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_26000 | This variant affects the gene TTR (transthyretin) found on Chromosome 18. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Amyloidosis, hereditary systemic 1 | GCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCTAAGTGTCCTTGTCTTAGAATTTTAGGAAAAGGTATAATGTGTATTAACCCATTAACAAAAGGAAAGGAATTCAGA... | GCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCTAAGTGTCCTTGTCTTAGAATTTTAGGAAAAGGTATAATGTGTATTAACCCATTAACAAAAGGAAAGGAATTCAGA... |
Task1_train_26001 | The variant affects gene TTR (transthyretin), which is on Chromosome 18. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Cardiovascular phenotype | GCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCTAAGTGTCCTTGTCTTAGAATTTTAGGAAAAGGTATAATGTGTATTAACCCATTAACAAAAGGAAAGGAATTCAGA... | GCTAGGAAGTGACCAGGAACCTGAGCATCATTTAGGGGCAGACAGTAGAGAAAAGAAGGAATCAGAACTCCTCTCCTCTAGCTGTGGTTTGCAACCCTTTTGGGTCACAGAACACTTTATGTAGGTGATGAAAAGTAAACATTCTATGCCCAGAAAAAATGCACAGATACACACACATACAAAATCATATATGTGATTTTAGGAGTTTCACAGATTCCCTGGTGTCCCTGGGTAACACCAAAGCTAAGTGTCCTTGTCTTAGAATTTTAGGAAAAGGTATAATGTGTATTAACCCATTAACAAAAGGAAAGGAATTCAGA... |
Task1_train_26002 | A variant on Chromosome 18 in gene TTR (transthyretin) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Amyloidosis, hereditary systemic 1 | TTTGCCCAAGAGCTGGGTCTCAGCCTGATGGGAACCATATAAAAAGGTTCACTGACATACTGCCCACATGTTGTTCTCTTTCATTAGATCTTAGCTTCCTTGTCTGCTCTTCATTCTTGCAGTATTCATTCAACAAACATTAAAAAAAAAAAAAAGCATTCTATGTGTGGAACACTCTGCTAGATGCTGTGGATTTAGAAATGAAAATACATCCCGACCCTTGGAATGGAAGGGAAAGGACTGAAGTAAGACAGATTAAGCAGGACCGTCAGCCCAGCTTGAAGCCCAGATAAATACGGAGAACAAGAGAGAGCGAGTAG... | TTTGCCCAAGAGCTGGGTCTCAGCCTGATGGGAACCATATAAAAAGGTTCACTGACATACTGCCCACATGTTGTTCTCTTTCATTAGATCTTAGCTTCCTTGTCTGCTCTTCATTCTTGCAGTATTCATTCAACAAACATTAAAAAAAAAAAAAAGCATTCTATGTGTGGAACACTCTGCTAGATGCTGTGGATTTAGAAATGAAAATACATCCCGACCCTTGGAATGGAAGGGAAAGGACTGAAGTAAGACAGATTAAGCAGGACCGTCAGCCCAGCTTGAAGCCCAGATAAATACGGAGAACAAGAGAGAGCGAGTAG... |
Task1_train_26003 | A variant affecting Chromosome 18, within the gene TTR (transthyretin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Carpal tunnel syndrome 1 | ACTGACATACTGCCCACATGTTGTTCTCTTTCATTAGATCTTAGCTTCCTTGTCTGCTCTTCATTCTTGCAGTATTCATTCAACAAACATTAAAAAAAAAAAAAAGCATTCTATGTGTGGAACACTCTGCTAGATGCTGTGGATTTAGAAATGAAAATACATCCCGACCCTTGGAATGGAAGGGAAAGGACTGAAGTAAGACAGATTAAGCAGGACCGTCAGCCCAGCTTGAAGCCCAGATAAATACGGAGAACAAGAGAGAGCGAGTAGTGAGAGATGAGTCCCAATGCCTCACTTTGGTGACGGGTGCGTGGTGGGCT... | ACTGACATACTGCCCACATGTTGTTCTCTTTCATTAGATCTTAGCTTCCTTGTCTGCTCTTCATTCTTGCAGTATTCATTCAACAAACATTAAAAAAAAAAAAAAGCATTCTATGTGTGGAACACTCTGCTAGATGCTGTGGATTTAGAAATGAAAATACATCCCGACCCTTGGAATGGAAGGGAAAGGACTGAAGTAAGACAGATTAAGCAGGACCGTCAGCCCAGCTTGAAGCCCAGATAAATACGGAGAACAAGAGAGAGCGAGTAGTGAGAGATGAGTCCCAATGCCTCACTTTGGTGACGGGTGCGTGGTGGGCT... |
Task1_train_26004 | Given a variant located on Chromosome 18 and affecting RNF125 (ring finger protein 125), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Tenorio syndrome | CTTCTACGCACATTTTGCCCTCTCCATGTTGCACTCTCTGTGTTCTTCAGAGTCCCGCCAGATCTCCATTCCTTGAGGCCTGGCCTTAGTTTTCCAGTTCCCTATATCAAACAATTTCTTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGTAGTGCAGTGGCACCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCACTTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATAGGTGCACACCACCACACCCGGCTAATTTTTGTATCTTTAGTAGAGAGGGGGTTT... | CTTCTACGCACATTTTGCCCTCTCCATGTTGCACTCTCTGTGTTCTTCAGAGTCCCGCCAGATCTCCATTCCTTGAGGCCTGGCCTTAGTTTTCCAGTTCCCTATATCAAACAATTTCTTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGTAGTGCAGTGGCACCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCACTTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATAGGTGCACACCACCACACCCGGCTAATTTTTGTATCTTTAGTAGAGAGGGGGTTT... |
Task1_train_26005 | With a mutation on Chromosome 18 in gene RNF125 (ring finger protein 125), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Tenorio syndrome | AATAATAATATGGGGAACAGAGCAGAGGTTAGGGAGAGAGAAGGAAATAAAGGATAGCAACGCACTGACATTCCTTTGCAGTGACAGAATGGTCTGTATCTTTTTTTTTTTTTTAATCCATCAAGTCCTTTTTTTTTTCTTTTTGAGACAGGGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCCATTCTGCTGCCTCAGCCTCTGGAGTAGCCAGGACTACAGGTGTGCACCACCACGCCTGGCTAATTTTTTTGTCTTTTTAGTAGACATGGG... | AATAATAATATGGGGAACAGAGCAGAGGTTAGGGAGAGAGAAGGAAATAAAGGATAGCAACGCACTGACATTCCTTTGCAGTGACAGAATGGTCTGTATCTTTTTTTTTTTTTTAATCCATCAAGTCCTTTTTTTTTTCTTTTTGAGACAGGGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCCATTCTGCTGCCTCAGCCTCTGGAGTAGCCAGGACTACAGGTGTGCACCACCACGCCTGGCTAATTTTTTTGTCTTTTTAGTAGACATGGG... |
Task1_train_26006 | This gene mutation involves RNF125 (ring finger protein 125) on Chromosome 18. Is it associated with any clinical condition, or is it benign? | Pathogenic; RNF125-related disorder | AATAATAATATGGGGAACAGAGCAGAGGTTAGGGAGAGAGAAGGAAATAAAGGATAGCAACGCACTGACATTCCTTTGCAGTGACAGAATGGTCTGTATCTTTTTTTTTTTTTTAATCCATCAAGTCCTTTTTTTTTTCTTTTTGAGACAGGGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCCATTCTGCTGCCTCAGCCTCTGGAGTAGCCAGGACTACAGGTGTGCACCACCACGCCTGGCTAATTTTTTTGTCTTTTTAGTAGACATGGG... | AATAATAATATGGGGAACAGAGCAGAGGTTAGGGAGAGAGAAGGAAATAAAGGATAGCAACGCACTGACATTCCTTTGCAGTGACAGAATGGTCTGTATCTTTTTTTTTTTTTTAATCCATCAAGTCCTTTTTTTTTTCTTTTTGAGACAGGGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCCATTCTGCTGCCTCAGCCTCTGGAGTAGCCAGGACTACAGGTGTGCACCACCACGCCTGGCTAATTTTTTTGTCTTTTTAGTAGACATGGG... |
Task1_train_26007 | This variant impacts the gene DTNA (dystrobrevin alpha) on Chromosome 18. Is the change likely to result in a pathogenic outcome? | Pathogenic; Left ventricular noncompaction 1 | ATGTAGCTGCTTTGCAATATTTCAGAAATGAATTCTCAAATGGCAGGGGGAAAAGAGTATGTGACTCCAGGGGAAACTAGATCAAATAGGTTGAAGTTACAGGGAGGTAAATCAAAGCTCAAATATAAAAAAGAAATTTCTATCACATATTTTTGTTCAGAAATGGCACATGAAGCCTCTTAAGGGGCCCATTTACTGTTAAGTGGTCATTATGTTCTCAGTGCAGAAGTCAAGACTTTATATCTGTATTACCAGCCAGTAAAGTTGATATTGTTATCTCGCTTTATCCATGAGGAAATTGAGATGCCAAGGAAAAACTT... | ATGTAGCTGCTTTGCAATATTTCAGAAATGAATTCTCAAATGGCAGGGGGAAAAGAGTATGTGACTCCAGGGGAAACTAGATCAAATAGGTTGAAGTTACAGGGAGGTAAATCAAAGCTCAAATATAAAAAAGAAATTTCTATCACATATTTTTGTTCAGAAATGGCACATGAAGCCTCTTAAGGGGCCCATTTACTGTTAAGTGGTCATTATGTTCTCAGTGCAGAAGTCAAGACTTTATATCTGTATTACCAGCCAGTAAAGTTGATATTGTTATCTCGCTTTATCCATGAGGAAATTGAGATGCCAAGGAAAAACTT... |
Task1_train_26008 | Assess the clinical impact of this variant on gene MAPRE2 (microtubule associated protein RP/EB family member 2), found on Chromosome 18. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Skin creases, congenital symmetric circumferential, 2 | CTAGTCATGTTTAAAAATATTACTTCTATATCTGTAAATACCATTTTTCACTAAAAGGAATCAGGAGCGCTTGGAGAAATTACTGGTTTTAGGTCTGAGGCAAGAAATATACAAGTTGGCCTTGGAACATCTCGTCATATTGGAAAAGAAGAAGGTTATCAAAGACCACTAAGACTGTGTCAAAAGAACTTAGAGGCTAGCTTGAATAAGCTCTTGCAAGCTTTTATCAATAAAGGTATAATTTCAATGGATTGAAACATATCAAATATGTTTAAGTCCATGGATTCATAATTATACTTCAAAATATAAGAACAAAAACT... | CTAGTCATGTTTAAAAATATTACTTCTATATCTGTAAATACCATTTTTCACTAAAAGGAATCAGGAGCGCTTGGAGAAATTACTGGTTTTAGGTCTGAGGCAAGAAATATACAAGTTGGCCTTGGAACATCTCGTCATATTGGAAAAGAAGAAGGTTATCAAAGACCACTAAGACTGTGTCAAAAGAACTTAGAGGCTAGCTTGAATAAGCTCTTGCAAGCTTTTATCAATAAAGGTATAATTTCAATGGATTGAAACATATCAAATATGTTTAAGTCCATGGATTCATAATTATACTTCAAAATATAAGAACAAAAACT... |
Task1_train_26009 | This is a variant in MAPRE2 (microtubule associated protein RP/EB family member 2), located on Chromosome 18. Is this mutation a likely cause of disease or not? | Pathogenic; Skin creases, congenital symmetric circumferential, 2 | CACACACTCCTTTCCAAAGAGGATTAGAATGGCATATACCAGAATATTTCGAGTGGTTCTCTGGATGATGACACTAGAGATGATTTTTCCTTCCTTCCCTCACTATATGGAAGAGGGTTTTTTTTTTTTTTCAAAAGCTGTTATTTCTTTTTAAATCTGAAACATGAGGAATTTGGTTGGTTGGTTTGTAAGAGTATATAGTATCTGGGTCTCCATAGATAAATTTTATGCTAAACTCTACAAAAGCGAAAATAACTTCTAAGACCAGGTAATGAGGCAGTTGTGTTTCAACAATCCCATCCATATAAAAATAATGTTAA... | CACACACTCCTTTCCAAAGAGGATTAGAATGGCATATACCAGAATATTTCGAGTGGTTCTCTGGATGATGACACTAGAGATGATTTTTCCTTCCTTCCCTCACTATATGGAAGAGGGTTTTTTTTTTTTTTCAAAAGCTGTTATTTCTTTTTAAATCTGAAACATGAGGAATTTGGTTGGTTGGTTTGTAAGAGTATATAGTATCTGGGTCTCCATAGATAAATTTTATGCTAAACTCTACAAAAGCGAAAATAACTTCTAAGACCAGGTAATGAGGCAGTTGTGTTTCAACAATCCCATCCATATAAAAATAATGTTAA... |
Task1_train_26010 | This variant affects the gene ELP2 (elongator acetyltransferase complex subunit 2) found on Chromosome 18. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Intellectual disability, autosomal recessive 58 | CTAGAAGGTAGGTGCTGTTATAACTGTTTTATTCTATAATTGAGACACAGAAAGGTTAAGTAGTATCTGGCTGCTCAATAAATGATGAATGGAGGGAAATTTCCCACAGTTACTGATTTAAAGGATACAACACATATTTGAATGCTTAAGCTCTTACATGATTGATTGGAAAATGGATCCTATTATTCTGTGATCCGATCTTGTATACTTAGCTTTTCACCTTGCCAGAGGGCTTTAGTCTTCTCTGTTATCAGACGTGAGTGCTTTACTTTGGTGGTAGTCTTTGAGTATTTTGATATGTGATATGAGCACTTCCATTG... | CTAGAAGGTAGGTGCTGTTATAACTGTTTTATTCTATAATTGAGACACAGAAAGGTTAAGTAGTATCTGGCTGCTCAATAAATGATGAATGGAGGGAAATTTCCCACAGTTACTGATTTAAAGGATACAACACATATTTGAATGCTTAAGCTCTTACATGATTGATTGGAAAATGGATCCTATTATTCTGTGATCCGATCTTGTATACTTAGCTTTTCACCTTGCCAGAGGGCTTTAGTCTTCTCTGTTATCAGACGTGAGTGCTTTACTTTGGTGGTAGTCTTTGAGTATTTTGATATGTGATATGAGCACTTCCATTG... |
Task1_train_26011 | A variant on Chromosome 18 in gene ELP2 (elongator acetyltransferase complex subunit 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Intellectual disability, autosomal recessive 58 | AGTTGTACACTTAGTTCTGTGTCCTAAGATACAGGGATCCTGTAGAGTAGCGAGCTGCTTGCTCTCGTTTGGGTTTTGCTCCCATACTAAGTGTTGGGATAGGTATGTAGGAATGCCTCTTACTGTTCTTTTCCATGTTAGTTTTTCTTTGTTTCTGAGATAAAGCATACTGTTTCTTGTGTCCCAGGTAGCCATTTTTGATGGTTTTAAATTCTTACTATTCATGTTTGTGTCTAGTTTCAGCTTCTGTGTTAAAGTCTAAGTTGTACAGAACACTCTTAGCAAATGAGCATGTGCCAGTTTTGATGGTTAGCATATAT... | AGTTGTACACTTAGTTCTGTGTCCTAAGATACAGGGATCCTGTAGAGTAGCGAGCTGCTTGCTCTCGTTTGGGTTTTGCTCCCATACTAAGTGTTGGGATAGGTATGTAGGAATGCCTCTTACTGTTCTTTTCCATGTTAGTTTTTCTTTGTTTCTGAGATAAAGCATACTGTTTCTTGTGTCCCAGGTAGCCATTTTTGATGGTTTTAAATTCTTACTATTCATGTTTGTGTCTAGTTTCAGCTTCTGTGTTAAAGTCTAAGTTGTACAGAACACTCTTAGCAAATGAGCATGTGCCAGTTTTGATGGTTAGCATATAT... |
Task1_train_26012 | Here is a genetic alteration in MOCOS (molybdenum cofactor sulfurase) on Chromosome 18. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Xanthinuria type II | CGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTACAGAATGAGGACAGTGTGATATTGGCATAAGTATACACATATAGACAAATGAAATATAATTTTAATTTAATAAACCCATATGTCTATGGTCAATTGATTTTCAACAGATACCAAGACTATTCAACGAGGGAAATAACTTCTTCAATAAGTGATATTGGGACAACTGGATATCAACATGCAAAAGAACGAACTTGG... | CGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTACAGAATGAGGACAGTGTGATATTGGCATAAGTATACACATATAGACAAATGAAATATAATTTTAATTTAATAAACCCATATGTCTATGGTCAATTGATTTTCAACAGATACCAAGACTATTCAACGAGGGAAATAACTTCTTCAATAAGTGATATTGGGACAACTGGATATCAACATGCAAAAGAACGAACTTGG... |
Task1_train_26013 | Consider a variant on Chromosome 18 in gene MOCOS (molybdenum cofactor sulfurase). Determine its clinical classification and disease relevance. | Pathogenic; Xanthinuria type II | CTCTGGGTATTCACTGAGTTCTTCTGGCACTGAGGGACCCTTCTCCTCAGGCATCCAGAGTCCTGGAAAAAGTGGGTCTGCAGTTTTTTGGGGTTCTTCGTGTGGAAAGATAGGAGGTGGGGAGAGGCTTGCTGTCACCCCAGTTCCTACCAGGAGGGGCCACGTTCCCCACCATCTGGTTTATAGCAGGGTGGACCCGCTGGGCAGCTGATCCAAGAGCAGAGCTAGGGTCCCCTGCTAGGTATTTCTCTGTGCTTTATTTGCAAATTTGAGGGACTCTATCATGCACATGTTAACCATGATAGCTTTTGGACATAAAA... | CTCTGGGTATTCACTGAGTTCTTCTGGCACTGAGGGACCCTTCTCCTCAGGCATCCAGAGTCCTGGAAAAAGTGGGTCTGCAGTTTTTTGGGGTTCTTCGTGTGGAAAGATAGGAGGTGGGGAGAGGCTTGCTGTCACCCCAGTTCCTACCAGGAGGGGCCACGTTCCCCACCATCTGGTTTATAGCAGGGTGGACCCGCTGGGCAGCTGATCCAAGAGCAGAGCTAGGGTCCCCTGCTAGGTATTTCTCTGTGCTTTATTTGCAAATTTGAGGGACTCTATCATGCACATGTTAACCATGATAGCTTTTGGACATAAAA... |
Task1_train_26014 | This alteration in SETBP1 (SET binding protein 1) on Chromosome 18 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Schinzel-Giedion syndrome | CCCAGAAACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCA... | CCCAGAAACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCA... |
Task1_train_26015 | This mutation is located in gene SETBP1 (SET binding protein 1) on Chromosome 18. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; SETBP1-related disorder | CCCAGAAACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCA... | CCCAGAAACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCA... |
Task1_train_26016 | Given this context: Chromosome 18, gene SETBP1 (SET binding protein 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Intellectual disability, autosomal dominant 29 | CCCAGAAACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCA... | CCCAGAAACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCA... |
Task1_train_26017 | Gene SETBP1 (SET binding protein 1), found on Chromosome 18, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Schinzel-Giedion syndrome | CCCAGAAACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCA... | CCCAGAAACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCA... |
Task1_train_26018 | This gene mutation involves SETBP1 (SET binding protein 1) on Chromosome 18. Is it associated with any clinical condition, or is it benign? | Pathogenic; Intellectual disability, autosomal dominant 29 | CCCAGAAACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCA... | CCCAGAAACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCA... |
Task1_train_26019 | Here is a genetic alteration in SETBP1 (SET binding protein 1) on Chromosome 18. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Schinzel-Giedion syndrome | CCAGAAACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCAT... | CCAGAAACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCAT... |
Task1_train_26020 | Gene SETBP1 (SET binding protein 1), found on Chromosome 18, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Schinzel-Giedion syndrome | AAACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCATCCCC... | AAACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCATCCCC... |
Task1_train_26021 | This variant lies on Chromosome 18 and affects the gene SETBP1 (SET binding protein 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; SETBP1-related disorder | AAACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCATCCCC... | AAACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCATCCCC... |
Task1_train_26022 | A variant was discovered on Chromosome 18, affecting SETBP1 (SET binding protein 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Schinzel-Giedion syndrome | AACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCATCCCCA... | AACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCATCCCCA... |
Task1_train_26023 | Chromosome 18 houses a mutation in gene SETBP1 (SET binding protein 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; SETBP1-related disorder | AACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCATCCCCA... | AACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCATCCCCA... |
Task1_train_26024 | A variant found in Chromosome 18 affects SETBP1 (SET binding protein 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Schinzel-Giedion syndrome | ACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCATCCCCAA... | ACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCATCCCCAA... |
Task1_train_26025 | Assess the clinical impact of this variant on gene SETBP1 (SET binding protein 1), found on Chromosome 18. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Schinzel-Giedion syndrome | TTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCATCCCCAAGCA... | TTCAACTCTCCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCATCCCCAAGCA... |
Task1_train_26026 | A variant affecting Chromosome 18, within the gene SETBP1 (SET binding protein 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Intellectual disability, autosomal dominant 29 | CCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCATCCCCAAGCAGCCACAGCT... | CCATTATGACACGGGCCTCCCACAGGACTTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATGGACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAGTCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTTGCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCTGCTCTTGGGAGGTGTGGCTCCATCCCCAAGCAGCCACAGCT... |
Task1_train_26027 | A variant affecting Chromosome 18, within the gene SLC14A1 (solute carrier family 14 member 1 (Kidd blood group)), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Jk-null variant, finnish type | CGAGGAGCTCAAGTCACCTTCTCCCTAGCTTCTTGCCAGAAAACTAAAGGGAGCACCTGGAAATAATTCAGAAGGAAAAAATCAAAGATTCATTAGAACTACCCATGAAAAATAACAGTATAAAATAGCATTAATCGATCTAGAACTGCACTAACACAGGAGCCTCTAGCCCCATGTGGCTATATAAATTTAGATGTAGATTAGTTAAAAATTGAGTTCCTCAACCTCTCTAGCCACATCTCAGGTGCTTGATAGCCACACGTGGCTAGGACCCACTGTATTAGACAGCACAGATACAGACTATTCCATCATCTCGGAAA... | CGAGGAGCTCAAGTCACCTTCTCCCTAGCTTCTTGCCAGAAAACTAAAGGGAGCACCTGGAAATAATTCAGAAGGAAAAAATCAAAGATTCATTAGAACTACCCATGAAAAATAACAGTATAAAATAGCATTAATCGATCTAGAACTGCACTAACACAGGAGCCTCTAGCCCCATGTGGCTATATAAATTTAGATGTAGATTAGTTAAAAATTGAGTTCCTCAACCTCTCTAGCCACATCTCAGGTGCTTGATAGCCACACGTGGCTAGGACCCACTGTATTAGACAGCACAGATACAGACTATTCCATCATCTCGGAAA... |
Task1_train_26028 | The following genetic variant occurs in ATP5F1A (ATP synthase F1 subunit alpha) on Chromosome 18. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A | GAAATAAAAGCAGGTCGTAAGTTCTGACCTGGAAAAAGTTTTAATGACTAGCCTAACTACAGATTTGAAAATAATTTTAACTTCATATCTTAAACATAACTTTAAAAAAAGATGCCAACAATTGCATTCATACCTGATAGTGCCCAACAAGGCTTGGTGCTGGCTGACGACATGAGACAAGAAAGCATTCTCAAACTTTGTAATCTTGCTGGGCTCCAGTTTATCAAGATATCCCCTTACACCCGCATAGATAACAGCCACTTGTTCTTCAATAGCCATGGGAGCTGAAAAGATACAAGAAGAATGCCAAGTGAGTTGCT... | GAAATAAAAGCAGGTCGTAAGTTCTGACCTGGAAAAAGTTTTAATGACTAGCCTAACTACAGATTTGAAAATAATTTTAACTTCATATCTTAAACATAACTTTAAAAAAAGATGCCAACAATTGCATTCATACCTGATAGTGCCCAACAAGGCTTGGTGCTGGCTGACGACATGAGACAAGAAAGCATTCTCAAACTTTGTAATCTTGCTGGGCTCCAGTTTATCAAGATATCCCCTTACACCCGCATAGATAACAGCCACTTGTTCTTCAATAGCCATGGGAGCTGAAAAGATACAAGAAGAATGCCAAGTGAGTTGCT... |
Task1_train_26029 | Here’s a variant in ATP5F1A (ATP synthase F1 subunit alpha) located on Chromosome 18. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A | GTAACTCACACCTGTAATCCCAGCACTTTAGGACTCTGAGGCGGGTGGACCACTTAAGGTCAGGGGTTCAAGATCAGCCTGGCCAAAATGGTAGAGGTTTTACCATTTCTACTAAAAATATACTCCAGCCTGGGTGACAGAAGGAGACTCTGTATTAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAGAAAGATAGTTTGAGGCCGGGCATGGTGGCTCACGCCTATAATGCCAGCACTTTGAGAGGTGGGAAGATGGCATAAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACAAAAT... | GTAACTCACACCTGTAATCCCAGCACTTTAGGACTCTGAGGCGGGTGGACCACTTAAGGTCAGGGGTTCAAGATCAGCCTGGCCAAAATGGTAGAGGTTTTACCATTTCTACTAAAAATATACTCCAGCCTGGGTGACAGAAGGAGACTCTGTATTAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAGAAAGATAGTTTGAGGCCGGGCATGGTGGCTCACGCCTATAATGCCAGCACTTTGAGAGGTGGGAAGATGGCATAAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACAAAAT... |
Task1_train_26030 | A mutation found in ATP5F1A (ATP synthase F1 subunit alpha) on Chromosome 18 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Combined oxidative phosphorylation deficiency 22 | CACTTTAGGACTCTGAGGCGGGTGGACCACTTAAGGTCAGGGGTTCAAGATCAGCCTGGCCAAAATGGTAGAGGTTTTACCATTTCTACTAAAAATATACTCCAGCCTGGGTGACAGAAGGAGACTCTGTATTAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAGAAAGATAGTTTGAGGCCGGGCATGGTGGCTCACGCCTATAATGCCAGCACTTTGAGAGGTGGGAAGATGGCATAAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACAAAATACAAAAAAATTAGCCAGGCATGG... | CACTTTAGGACTCTGAGGCGGGTGGACCACTTAAGGTCAGGGGTTCAAGATCAGCCTGGCCAAAATGGTAGAGGTTTTACCATTTCTACTAAAAATATACTCCAGCCTGGGTGACAGAAGGAGACTCTGTATTAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAGAAAGATAGTTTGAGGCCGGGCATGGTGGCTCACGCCTATAATGCCAGCACTTTGAGAGGTGGGAAGATGGCATAAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACAAAATACAAAAAAATTAGCCAGGCATGG... |
Task1_train_26031 | Consider a variant on Chromosome 18 in gene LOXHD1 (lipoxygenase homology PLAT domains 1). Determine its clinical classification and disease relevance. | Pathogenic; Inborn genetic diseases | ACTGGTAAGTTATCTGTGGTGTGTGTCTCCTCTCCAAGAACTGAGGGAGTTGCTAACTCCCAATGTACAGACCAAAGACAGCATTCTTGTCATTTGTTTGGAGTGTCAAGCTTCTAAAAGCTCTTTTGACCAATTATCCTACTTGAACCTAGCACTATTATGTGAAGGAGGGTAAGAAAAATAACCTCTCACCACGTATAGGCATTATATGCCCAAAAAGCTCCCTATGGTCAACAAAAATGCTGTTGGCAAAAGCAAGGTCTCATAGAAAGAAGGAATTTGAAGAAGAACATAAAAATGTATCATATATGCCACATAGT... | ACTGGTAAGTTATCTGTGGTGTGTGTCTCCTCTCCAAGAACTGAGGGAGTTGCTAACTCCCAATGTACAGACCAAAGACAGCATTCTTGTCATTTGTTTGGAGTGTCAAGCTTCTAAAAGCTCTTTTGACCAATTATCCTACTTGAACCTAGCACTATTATGTGAAGGAGGGTAAGAAAAATAACCTCTCACCACGTATAGGCATTATATGCCCAAAAAGCTCCCTATGGTCAACAAAAATGCTGTTGGCAAAAGCAAGGTCTCATAGAAAGAAGGAATTTGAAGAAGAACATAAAAATGTATCATATATGCCACATAGT... |
Task1_train_26032 | Gene SMAD2 (SMAD family member 2) on Chromosome 18 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | CCCTGGCTCCTCACTTGGCTTGCTTCTTTAATGTCAGGTGTTAGCTCATGCATCCTTTCCTTAGAGGCTTTCCTTGATGTCCTACCTGAAGCATCCCATCTGTTATTCTCCAGTACAGTACCCTGTTTATCTCCTTCATAGACAAGTAAGATAATTAAGGGTTAGTGTAACTGCTGTCTCAGCAAAGGCAGGAACTGTAGTTGTCTTGTTCACCTTTACCCAAAGACTAAGAAAAGTTCCTGGTACAAACAGGTGAACAATAAATATTTGTTGAATGAATAAAAAATTACTATACCAAATTTACATGAACACATACATAT... | CCCTGGCTCCTCACTTGGCTTGCTTCTTTAATGTCAGGTGTTAGCTCATGCATCCTTTCCTTAGAGGCTTTCCTTGATGTCCTACCTGAAGCATCCCATCTGTTATTCTCCAGTACAGTACCCTGTTTATCTCCTTCATAGACAAGTAAGATAATTAAGGGTTAGTGTAACTGCTGTCTCAGCAAAGGCAGGAACTGTAGTTGTCTTGTTCACCTTTACCCAAAGACTAAGAAAAGTTCCTGGTACAAACAGGTGAACAATAAATATTTGTTGAATGAATAAAAAATTACTATACCAAATTTACATGAACACATACATAT... |
Task1_train_26033 | Here is a variant affecting SMAD2 (SMAD family member 2) on Chromosome 18. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | TTCTTTAATGTCAGGTGTTAGCTCATGCATCCTTTCCTTAGAGGCTTTCCTTGATGTCCTACCTGAAGCATCCCATCTGTTATTCTCCAGTACAGTACCCTGTTTATCTCCTTCATAGACAAGTAAGATAATTAAGGGTTAGTGTAACTGCTGTCTCAGCAAAGGCAGGAACTGTAGTTGTCTTGTTCACCTTTACCCAAAGACTAAGAAAAGTTCCTGGTACAAACAGGTGAACAATAAATATTTGTTGAATGAATAAAAAATTACTATACCAAATTTACATGAACACATACATATACACACAAATATAGGAAAATGGG... | TTCTTTAATGTCAGGTGTTAGCTCATGCATCCTTTCCTTAGAGGCTTTCCTTGATGTCCTACCTGAAGCATCCCATCTGTTATTCTCCAGTACAGTACCCTGTTTATCTCCTTCATAGACAAGTAAGATAATTAAGGGTTAGTGTAACTGCTGTCTCAGCAAAGGCAGGAACTGTAGTTGTCTTGTTCACCTTTACCCAAAGACTAAGAAAAGTTCCTGGTACAAACAGGTGAACAATAAATATTTGTTGAATGAATAAAAAATTACTATACCAAATTTACATGAACACATACATATACACACAAATATAGGAAAATGGG... |
Task1_train_26034 | This variant affects gene SMAD2 (SMAD family member 2) located on Chromosome 18. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | GGCTTAACAATGGTCCTGGCTGCCCTGTTCTCCCCTGTCCCACTTCCCTTTCTAGAATAATCCATAATCCAGGTCACCCAAGGGGAGTAGGTTTAAGAAGGCTGCCACTCGATTAAATACAAATTCTTCATACATCTAAATTTCCTGTTTACTACATTTCCTCATTTTTGTGCTAACAACCAAGATGACATTAAGGAAATTTAAAAAAAATAGTTTTAGAAACCTAAACATTAGGTCTATTTCCTCAGCTCCAGAATGATTACAGACAGTAAGTTCCTGGTAGCTACCCACATATCCACAGATAGATGGATATTTGCCAT... | GGCTTAACAATGGTCCTGGCTGCCCTGTTCTCCCCTGTCCCACTTCCCTTTCTAGAATAATCCATAATCCAGGTCACCCAAGGGGAGTAGGTTTAAGAAGGCTGCCACTCGATTAAATACAAATTCTTCATACATCTAAATTTCCTGTTTACTACATTTCCTCATTTTTGTGCTAACAACCAAGATGACATTAAGGAAATTTAAAAAAAATAGTTTTAGAAACCTAAACATTAGGTCTATTTCCTCAGCTCCAGAATGATTACAGACAGTAAGTTCCTGGTAGCTACCCACATATCCACAGATAGATGGATATTTGCCAT... |
Task1_train_26035 | The variant affects gene SMAD2 (SMAD family member 2), which is on Chromosome 18. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | GAATAATCCATAATCCAGGTCACCCAAGGGGAGTAGGTTTAAGAAGGCTGCCACTCGATTAAATACAAATTCTTCATACATCTAAATTTCCTGTTTACTACATTTCCTCATTTTTGTGCTAACAACCAAGATGACATTAAGGAAATTTAAAAAAAATAGTTTTAGAAACCTAAACATTAGGTCTATTTCCTCAGCTCCAGAATGATTACAGACAGTAAGTTCCTGGTAGCTACCCACATATCCACAGATAGATGGATATTTGCCATTTTGATTTGTAAATGTTACAGGAAACTACTTGATTTTCCAAAGTCAGATGTACC... | GAATAATCCATAATCCAGGTCACCCAAGGGGAGTAGGTTTAAGAAGGCTGCCACTCGATTAAATACAAATTCTTCATACATCTAAATTTCCTGTTTACTACATTTCCTCATTTTTGTGCTAACAACCAAGATGACATTAAGGAAATTTAAAAAAAATAGTTTTAGAAACCTAAACATTAGGTCTATTTCCTCAGCTCCAGAATGATTACAGACAGTAAGTTCCTGGTAGCTACCCACATATCCACAGATAGATGGATATTTGCCATTTTGATTTGTAAATGTTACAGGAAACTACTTGATTTTCCAAAGTCAGATGTACC... |
Task1_train_26036 | Given this variant in gene SMAD2 (SMAD family member 2) on Chromosome 18, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Loeys-Dietz syndrome 6 | TTGCCATTTTGATTTGTAAATGTTACAGGAAACTACTTGATTTTCCAAAGTCAGATGTACCTGACTCCCAATACTCATAAAAACATACTGCATATTACTGCTTCTGTAATTACAGATTTTACTTTATCTGTGAGTTAAAGAACAGCAGAGTCCACAGTGAATGAAGAAGGGCAGTATCTTTACCAAGTAAAACTGTTCTTAGCAGATCTATAGATACACATGGAATTCTCTCTGTAATTCACTCTTACTTCCACTAAATTCCTACCATATTTTGCATTATTCTAACCTTCTGAAGAACAAAAAAAAGTCTGACCTGAAAT... | TTGCCATTTTGATTTGTAAATGTTACAGGAAACTACTTGATTTTCCAAAGTCAGATGTACCTGACTCCCAATACTCATAAAAACATACTGCATATTACTGCTTCTGTAATTACAGATTTTACTTTATCTGTGAGTTAAAGAACAGCAGAGTCCACAGTGAATGAAGAAGGGCAGTATCTTTACCAAGTAAAACTGTTCTTAGCAGATCTATAGATACACATGGAATTCTCTCTGTAATTCACTCTTACTTCCACTAAATTCCTACCATATTTTGCATTATTCTAACCTTCTGAAGAACAAAAAAAAGTCTGACCTGAAAT... |
Task1_train_26037 | Consider a variant on Chromosome 18 in gene SMAD2 (SMAD family member 2). Determine its clinical classification and disease relevance. | Pathogenic; not provided | TGCACATACATTCTCTGTTAATCAAACACTAGGTGCTGCTGTTAAGGATTTTTTCAGATGTAATTAAGGCAGCAAATCAGTTAACCTTAATCAGGCAATCCTTTAAAAGGGACTAGACTGTCATAGGCTAAGTGATTCAAAGCATGAAAGGTATTCAACACAAGAGACATTCTCCATTGCTGACTTTGAAGATGGATGGCACCATGTGACAAGGAATTCAGGAGGCATCTAGGAGCTGAATTCTGCCACAACCATGTGGGTTTAGAAGAGGACCTCAAGCTCCAGATAAGAACACAAGCCAGCTGATACCTCAATTTTGG... | TGCACATACATTCTCTGTTAATCAAACACTAGGTGCTGCTGTTAAGGATTTTTTCAGATGTAATTAAGGCAGCAAATCAGTTAACCTTAATCAGGCAATCCTTTAAAAGGGACTAGACTGTCATAGGCTAAGTGATTCAAAGCATGAAAGGTATTCAACACAAGAGACATTCTCCATTGCTGACTTTGAAGATGGATGGCACCATGTGACAAGGAATTCAGGAGGCATCTAGGAGCTGAATTCTGCCACAACCATGTGGGTTTAGAAGAGGACCTCAAGCTCCAGATAAGAACACAAGCCAGCTGATACCTCAATTTTGG... |
Task1_train_26038 | Gene SMAD2 (SMAD family member 2), found on Chromosome 18, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Inborn genetic diseases | TTTTCAGATGTAATTAAGGCAGCAAATCAGTTAACCTTAATCAGGCAATCCTTTAAAAGGGACTAGACTGTCATAGGCTAAGTGATTCAAAGCATGAAAGGTATTCAACACAAGAGACATTCTCCATTGCTGACTTTGAAGATGGATGGCACCATGTGACAAGGAATTCAGGAGGCATCTAGGAGCTGAATTCTGCCACAACCATGTGGGTTTAGAAGAGGACCTCAAGCTCCAGATAAGAACACAAGCCAGCTGATACCTCAATTTTGGCCTTGTTAAACCCTGAAAAGACCGCCTAACCCATGTCTGGACTCCTGACC... | TTTTCAGATGTAATTAAGGCAGCAAATCAGTTAACCTTAATCAGGCAATCCTTTAAAAGGGACTAGACTGTCATAGGCTAAGTGATTCAAAGCATGAAAGGTATTCAACACAAGAGACATTCTCCATTGCTGACTTTGAAGATGGATGGCACCATGTGACAAGGAATTCAGGAGGCATCTAGGAGCTGAATTCTGCCACAACCATGTGGGTTTAGAAGAGGACCTCAAGCTCCAGATAAGAACACAAGCCAGCTGATACCTCAATTTTGGCCTTGTTAAACCCTGAAAAGACCGCCTAACCCATGTCTGGACTCCTGACC... |
Task1_train_26039 | This variant impacts the gene SMAD2 (SMAD family member 2) on Chromosome 18. Is the change likely to result in a pathogenic outcome? | Pathogenic; Congenital heart defects, multiple types, 8, with or without heterotaxy | GAGACATTCTCCATTGCTGACTTTGAAGATGGATGGCACCATGTGACAAGGAATTCAGGAGGCATCTAGGAGCTGAATTCTGCCACAACCATGTGGGTTTAGAAGAGGACCTCAAGCTCCAGATAAGAACACAAGCCAGCTGATACCTCAATTTTGGCCTTGTTAAACCCTGAAAAGACCGCCTAACCCATGTCTGGACTCCTGACCCACAGAAACCGTGAGGTAAAAAACTGATGTTTTAGGCCACTGAGTTTGTGGTAATTTGTTACACAGCAAAAGAAAACTAATCAAACAACTAACACTCCAGATTTAATACAGAA... | GAGACATTCTCCATTGCTGACTTTGAAGATGGATGGCACCATGTGACAAGGAATTCAGGAGGCATCTAGGAGCTGAATTCTGCCACAACCATGTGGGTTTAGAAGAGGACCTCAAGCTCCAGATAAGAACACAAGCCAGCTGATACCTCAATTTTGGCCTTGTTAAACCCTGAAAAGACCGCCTAACCCATGTCTGGACTCCTGACCCACAGAAACCGTGAGGTAAAAAACTGATGTTTTAGGCCACTGAGTTTGTGGTAATTTGTTACACAGCAAAAGAAAACTAATCAAACAACTAACACTCCAGATTTAATACAGAA... |
Task1_train_26040 | This variant lies on Chromosome 18 and affects the gene DYM (dymeclin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Smith-McCort dysplasia 1 | ACGGAGTTAACTCGTGATAGGTGTTCCTTAGGCAAAACTTTGTTTCATAATCTTATTAACACTGACACTTCTCAATTTTAAAGAGATCTTATTAACACCAATACTTCTTAATTAAAACTCAGAGTTAACAAGAAGGACATGTGGCCAGAGATGAAATAATCGAGAAGTTGCTAAGGATGCTCTCACACACATCCTAAATATCAGTGAAGCTACATGGAGTCCTGGTTCATAAAGATTTCCCTTAAAATGTCAAAGTTTGATTCTTAAAATAAACATCCTTGTGTGAAATGGTGTTTCTGCTTTATCTTGATTGCACTGAT... | ACGGAGTTAACTCGTGATAGGTGTTCCTTAGGCAAAACTTTGTTTCATAATCTTATTAACACTGACACTTCTCAATTTTAAAGAGATCTTATTAACACCAATACTTCTTAATTAAAACTCAGAGTTAACAAGAAGGACATGTGGCCAGAGATGAAATAATCGAGAAGTTGCTAAGGATGCTCTCACACACATCCTAAATATCAGTGAAGCTACATGGAGTCCTGGTTCATAAAGATTTCCCTTAAAATGTCAAAGTTTGATTCTTAAAATAAACATCCTTGTGTGAAATGGTGTTTCTGCTTTATCTTGATTGCACTGAT... |
Task1_train_26041 | The gene DYM (dymeclin) on Chromosome 18 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Dyggve-Melchior-Clausen syndrome | AAGTACAAACCCAAAAAACAATCTAATAGAATGTATTAAGACCAGACATAAATTAAATAGTGAGTCAATGCAAAATATCCTGTACTAAATTCTGAAGATAAACAGACAACTTAATTTTGAGTAAGTTAAAAATGAGCCCAGGTCAATCAATGGCTAACCAATGAAGAGAATGTGAGATCAGCATTTAAAAGTGATACGGAGTTGTTATCACCACCAATGACTGCTAAACAAAACTGAATGGTCAAAACCACATGCCCAGACTGAGGCAGGAGGATCCCTTGAGCCCAGGAGTTTGAGCTTTCAGTGAGCTGTGGTTGCTC... | AAGTACAAACCCAAAAAACAATCTAATAGAATGTATTAAGACCAGACATAAATTAAATAGTGAGTCAATGCAAAATATCCTGTACTAAATTCTGAAGATAAACAGACAACTTAATTTTGAGTAAGTTAAAAATGAGCCCAGGTCAATCAATGGCTAACCAATGAAGAGAATGTGAGATCAGCATTTAAAAGTGATACGGAGTTGTTATCACCACCAATGACTGCTAAACAAAACTGAATGGTCAAAACCACATGCCCAGACTGAGGCAGGAGGATCCCTTGAGCCCAGGAGTTTGAGCTTTCAGTGAGCTGTGGTTGCTC... |
Task1_train_26042 | Located on Chromosome 18, this mutation impacts MYO5B (myosin VB). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | TGGAAATGAAAAATGAGCACATCTGAAGATGGCGCTAAACTTTTCAAGTTGCTACCAGGAGGGACAATCACATCCTCCCCTCTACACAGACCCCTTTCCCCACCACTCCAGCCTCAAGCCATTTCCCCTGACTTCCCTTACACTCCCTGTGAGACTGCCAAGCACCTTGTGCTGTGGTTACTTGTGTATACACTGTCTCCTCTCTGCCTGAGGTCAGTGCTTCACCAGCTGGCACACGGTAGGCAGGAATGCTTGCTAAGTAGGTGAATATACATCACCAACAGCCCCTGGAACCTGCTGCAGCTGGCTCTCCTTAGGGG... | TGGAAATGAAAAATGAGCACATCTGAAGATGGCGCTAAACTTTTCAAGTTGCTACCAGGAGGGACAATCACATCCTCCCCTCTACACAGACCCCTTTCCCCACCACTCCAGCCTCAAGCCATTTCCCCTGACTTCCCTTACACTCCCTGTGAGACTGCCAAGCACCTTGTGCTGTGGTTACTTGTGTATACACTGTCTCCTCTCTGCCTGAGGTCAGTGCTTCACCAGCTGGCACACGGTAGGCAGGAATGCTTGCTAAGTAGGTGAATATACATCACCAACAGCCCCTGGAACCTGCTGCAGCTGGCTCTCCTTAGGGG... |
Task1_train_26043 | Here is a mutation in MYO5B (myosin VB) on Chromosome 18. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cholestasis, progressive familial intrahepatic, 10 | TGAACTTTCTGGCCACCAGAATTGTGAGCCAAATAAACCTCTTTTCTTCATAAATCACCCAGCCTCAGATATTGTTATAGCAACATTTAATGGACTAAGACAACAGTATGCACACCCTTCCTACCTTGTGGGACTTCAGAAAGGATTTGGTGAGAGCAGAGATGTGAAAGCATTTAGAAAAAAGTTGGGAGTGCTTGACAGAGGTTCACGTTGGCAGTAATTCATCTGTTGCCACTTTAGTTCTGAATCTGCAGCCCTGAGGCCCTCAGAGTGGCTACTCACCTGGCGGTAGGTTCTCCGCACAAACATGGCCCGGGTGA... | TGAACTTTCTGGCCACCAGAATTGTGAGCCAAATAAACCTCTTTTCTTCATAAATCACCCAGCCTCAGATATTGTTATAGCAACATTTAATGGACTAAGACAACAGTATGCACACCCTTCCTACCTTGTGGGACTTCAGAAAGGATTTGGTGAGAGCAGAGATGTGAAAGCATTTAGAAAAAAGTTGGGAGTGCTTGACAGAGGTTCACGTTGGCAGTAATTCATCTGTTGCCACTTTAGTTCTGAATCTGCAGCCCTGAGGCCCTCAGAGTGGCTACTCACCTGGCGGTAGGTTCTCCGCACAAACATGGCCCGGGTGA... |
Task1_train_26044 | This variant affects the gene MYO5B (myosin VB) found on Chromosome 18. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | TTGCGACTGGCCAAATCAGCAGTGAGCTCAAACTAGACACAGAGAGCAAAAGACTAGCTTGCGACTGGCCAAATCAGCAGTGAGCTCAAACTAGAATCCCGGTATCATGACATGGTCAGTATTCCTCCCACCTTTTCTTTGTATTGGGAGGAAGATTTTGGTTCTGAAGATAAGGCAGTGTCTTAGAAAAGTGGGACCTCAGGACTAGAAAGTCCCCAGTGTCTTCTCTCCTTTGAGAGGGGAGACCCAGCAGAGTATCTGTCCCACAGCAGGGACACGCTCTGATGAGGGAAAGGCCCAAGGCCACAGCTGGTCTGGCC... | TTGCGACTGGCCAAATCAGCAGTGAGCTCAAACTAGACACAGAGAGCAAAAGACTAGCTTGCGACTGGCCAAATCAGCAGTGAGCTCAAACTAGAATCCCGGTATCATGACATGGTCAGTATTCCTCCCACCTTTTCTTTGTATTGGGAGGAAGATTTTGGTTCTGAAGATAAGGCAGTGTCTTAGAAAAGTGGGACCTCAGGACTAGAAAGTCCCCAGTGTCTTCTCTCCTTTGAGAGGGGAGACCCAGCAGAGTATCTGTCCCACAGCAGGGACACGCTCTGATGAGGGAAAGGCCCAAGGCCACAGCTGGTCTGGCC... |
Task1_train_26045 | The gene MYO5B (myosin VB) on Chromosome 18 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS | GGCCCTGGGTTTCCTCTGCAGGGCTAAAGCCAGTAACGGCATCTGCATCAGAGTCGGCTTTTAGAATGCCAGTGCACACGCTTCCCCTGACTCTACCACCCTCTCCCCGTGCTCCTTCTCTCCTTTCACAGTTACCTGTGGGTGTCTTCATCTGCCCACTCACAGCCCATTAGAAGGGGAGCAACCAGAGTGCAGACTCTGTCTTGCTCATCTTTGTGTGAAAATGGTGTGTTTAGGGCAGTGCCTTCCAAAGCAGGTGCTTAGTAAATATATGTTTGGGTGAATTGGTGCCTTCTTTCCTCTACCTGTAGAATGGACAC... | GGCCCTGGGTTTCCTCTGCAGGGCTAAAGCCAGTAACGGCATCTGCATCAGAGTCGGCTTTTAGAATGCCAGTGCACACGCTTCCCCTGACTCTACCACCCTCTCCCCGTGCTCCTTCTCTCCTTTCACAGTTACCTGTGGGTGTCTTCATCTGCCCACTCACAGCCCATTAGAAGGGGAGCAACCAGAGTGCAGACTCTGTCTTGCTCATCTTTGTGTGAAAATGGTGTGTTTAGGGCAGTGCCTTCCAAAGCAGGTGCTTAGTAAATATATGTTTGGGTGAATTGGTGCCTTCTTTCCTCTACCTGTAGAATGGACAC... |
Task1_train_26046 | Mutation context: Chromosome 18, Gene MYO5B (myosin VB). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Congenital microvillous atrophy | CTGACTTTATGTCCTGTCTCATGGGGTCACAGAACTCAACTGTTCACAGTGCAATGTATTATTCACTCTCACCCTGCAAAGTATCTGAGAGACAGGGAAGAAAGGACGTGTCTGAGGCTGCTTCCACAGCCCAACAGGATCCTTCCCAAGGAGCACCGCGTTGCCCAGCCACGGCAAACCCAGGGGGATTCCCTAACCTCCTCAGGCTCAGAGACATGGGTGCTTCCAGGCCCTACTATGTTTTAAAGTCAGGTTCATTGCAGAATAATTTCCATGCAGTAAAATGCACCCTTTCACTGAAGCATACAGTTCAGTGAGTT... | CTGACTTTATGTCCTGTCTCATGGGGTCACAGAACTCAACTGTTCACAGTGCAATGTATTATTCACTCTCACCCTGCAAAGTATCTGAGAGACAGGGAAGAAAGGACGTGTCTGAGGCTGCTTCCACAGCCCAACAGGATCCTTCCCAAGGAGCACCGCGTTGCCCAGCCACGGCAAACCCAGGGGGATTCCCTAACCTCCTCAGGCTCAGAGACATGGGTGCTTCCAGGCCCTACTATGTTTTAAAGTCAGGTTCATTGCAGAATAATTTCCATGCAGTAAAATGCACCCTTTCACTGAAGCATACAGTTCAGTGAGTT... |
Task1_train_26047 | The gene MYO5B (myosin VB), on Chromosome 18, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS | CAATGTATTATTCACTCTCACCCTGCAAAGTATCTGAGAGACAGGGAAGAAAGGACGTGTCTGAGGCTGCTTCCACAGCCCAACAGGATCCTTCCCAAGGAGCACCGCGTTGCCCAGCCACGGCAAACCCAGGGGGATTCCCTAACCTCCTCAGGCTCAGAGACATGGGTGCTTCCAGGCCCTACTATGTTTTAAAGTCAGGTTCATTGCAGAATAATTTCCATGCAGTAAAATGCACCCTTTCACTGAAGCATACAGTTCAGTGAGTTTTGACAAATGTAATAACACCTGTTGGCTTAAAATCCACCTGTTACTGATGC... | CAATGTATTATTCACTCTCACCCTGCAAAGTATCTGAGAGACAGGGAAGAAAGGACGTGTCTGAGGCTGCTTCCACAGCCCAACAGGATCCTTCCCAAGGAGCACCGCGTTGCCCAGCCACGGCAAACCCAGGGGGATTCCCTAACCTCCTCAGGCTCAGAGACATGGGTGCTTCCAGGCCCTACTATGTTTTAAAGTCAGGTTCATTGCAGAATAATTTCCATGCAGTAAAATGCACCCTTTCACTGAAGCATACAGTTCAGTGAGTTTTGACAAATGTAATAACACCTGTTGGCTTAAAATCCACCTGTTACTGATGC... |
Task1_train_26048 | Given this variant in gene MYO5B (myosin VB) on Chromosome 18, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | AAAGTATCTGAGAGACAGGGAAGAAAGGACGTGTCTGAGGCTGCTTCCACAGCCCAACAGGATCCTTCCCAAGGAGCACCGCGTTGCCCAGCCACGGCAAACCCAGGGGGATTCCCTAACCTCCTCAGGCTCAGAGACATGGGTGCTTCCAGGCCCTACTATGTTTTAAAGTCAGGTTCATTGCAGAATAATTTCCATGCAGTAAAATGCACCCTTTCACTGAAGCATACAGTTCAGTGAGTTTTGACAAATGTAATAACACCTGTTGGCTTAAAATCCACCTGTTACTGATGCTCTATCAGACTATGCTAAATCATCCT... | AAAGTATCTGAGAGACAGGGAAGAAAGGACGTGTCTGAGGCTGCTTCCACAGCCCAACAGGATCCTTCCCAAGGAGCACCGCGTTGCCCAGCCACGGCAAACCCAGGGGGATTCCCTAACCTCCTCAGGCTCAGAGACATGGGTGCTTCCAGGCCCTACTATGTTTTAAAGTCAGGTTCATTGCAGAATAATTTCCATGCAGTAAAATGCACCCTTTCACTGAAGCATACAGTTCAGTGAGTTTTGACAAATGTAATAACACCTGTTGGCTTAAAATCCACCTGTTACTGATGCTCTATCAGACTATGCTAAATCATCCT... |
Task1_train_26049 | A mutation in MYO5B (myosin VB), located on Chromosome 18, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS | AAAGCAGACTCTTTAAATTCAAGGCACTGTTAAGATGATATAGAAATACAACAGAACTGAGGCATGGTATTTTATGTAGCAGTAGTAAGGAAATCATAAAATTTTTACATGCTATTGACAAGTCTGCATGTTAATCTTCCTAAATCAAAACCTCAGTAAAATTATATCCTTCTACAAGTGGATTAAGGGAATTGGGTCAGCTTGGGTTTCCCCAGGTCTTACTTGGAAGGTAATACCGAAAGGTCAGTATTTTGGGATATCCAATTACCTGAAAATACTCAAAGTAGAGAGATCAACACATAATTAATGATTGACAATGA... | AAAGCAGACTCTTTAAATTCAAGGCACTGTTAAGATGATATAGAAATACAACAGAACTGAGGCATGGTATTTTATGTAGCAGTAGTAAGGAAATCATAAAATTTTTACATGCTATTGACAAGTCTGCATGTTAATCTTCCTAAATCAAAACCTCAGTAAAATTATATCCTTCTACAAGTGGATTAAGGGAATTGGGTCAGCTTGGGTTTCCCCAGGTCTTACTTGGAAGGTAATACCGAAAGGTCAGTATTTTGGGATATCCAATTACCTGAAAATACTCAAAGTAGAGAGATCAACACATAATTAATGATTGACAATGA... |
Task1_train_26050 | A variant has been detected on Chromosome 18 in MYO5B (myosin VB). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Congenital microvillous atrophy | CAAGAACCCATGACGGAGGGCTTTGAGCAGAGCCCCCAGCTGTGCACCCGCTGGAGCAGTAGCCCACCCCAGAGGATAGGCATGCACCTGTTGACTTACTTAGTGCAAGCTCTTTAAATTCTGGAAGACCGGCAGCAGCACAGAGCTGGTAAAAGATGTGGTAATTCCTCTCATCATCTGCCTGGAGGAGGAAGAAGTGAAGCAGTTTTAGGGCAGTGACCTCTAACATCGTTCCCTCTGCCACTGTAATCCCAGGGTGCTCCAGGTGGTGGAGGCTGAGCCCCCCACTCTTCCCAGTGTTTTCCTCCACACCTCTGCCA... | CAAGAACCCATGACGGAGGGCTTTGAGCAGAGCCCCCAGCTGTGCACCCGCTGGAGCAGTAGCCCACCCCAGAGGATAGGCATGCACCTGTTGACTTACTTAGTGCAAGCTCTTTAAATTCTGGAAGACCGGCAGCAGCACAGAGCTGGTAAAAGATGTGGTAATTCCTCTCATCATCTGCCTGGAGGAGGAAGAAGTGAAGCAGTTTTAGGGCAGTGACCTCTAACATCGTTCCCTCTGCCACTGTAATCCCAGGGTGCTCCAGGTGGTGGAGGCTGAGCCCCCCACTCTTCCCAGTGTTTTCCTCCACACCTCTGCCA... |
Task1_train_26051 | Gene MYO5B (myosin VB) on Chromosome 18 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cholestasis, progressive familial intrahepatic, 10 | ACCTTAAAACCTTAAAGAAAATCCTTAAGGAAGCAATCCCAGTTCAGCTTTAACATCCAAACTCTCTACTGACAAATTCATTACCCTAGGGCAAGACAGTATCACACCCATCACCCCAGACTCCCACACGTCCTCTTCCCCATAATGGGTGCAAAGGTCTCAAGCAAGTGAAATAACCCAATTGTAGGATAACCATGGACTCAGCTTCAGGCACGGCAGAGAAGAACAGAGGAATCTTGTCAAGAGGGTCTACAGGGTGGATAAAGCTAGAAGACTCCACAGGGTGGAAAGCTAGAAGACTCTCAAGCCTACAGGAGTCC... | ACCTTAAAACCTTAAAGAAAATCCTTAAGGAAGCAATCCCAGTTCAGCTTTAACATCCAAACTCTCTACTGACAAATTCATTACCCTAGGGCAAGACAGTATCACACCCATCACCCCAGACTCCCACACGTCCTCTTCCCCATAATGGGTGCAAAGGTCTCAAGCAAGTGAAATAACCCAATTGTAGGATAACCATGGACTCAGCTTCAGGCACGGCAGAGAAGAACAGAGGAATCTTGTCAAGAGGGTCTACAGGGTGGATAAAGCTAGAAGACTCCACAGGGTGGAAAGCTAGAAGACTCTCAAGCCTACAGGAGTCC... |
Task1_train_26052 | Consider this mutation in MYO5B (myosin VB) on Chromosome 18. Is this a benign change or a disease-causing variant? | Pathogenic; Congenital microvillous atrophy | CAATCCCAGTTCAGCTTTAACATCCAAACTCTCTACTGACAAATTCATTACCCTAGGGCAAGACAGTATCACACCCATCACCCCAGACTCCCACACGTCCTCTTCCCCATAATGGGTGCAAAGGTCTCAAGCAAGTGAAATAACCCAATTGTAGGATAACCATGGACTCAGCTTCAGGCACGGCAGAGAAGAACAGAGGAATCTTGTCAAGAGGGTCTACAGGGTGGATAAAGCTAGAAGACTCCACAGGGTGGAAAGCTAGAAGACTCTCAAGCCTACAGGAGTCCACAAGCAGCTTTGATGAAGAATGGAAACTTCTG... | CAATCCCAGTTCAGCTTTAACATCCAAACTCTCTACTGACAAATTCATTACCCTAGGGCAAGACAGTATCACACCCATCACCCCAGACTCCCACACGTCCTCTTCCCCATAATGGGTGCAAAGGTCTCAAGCAAGTGAAATAACCCAATTGTAGGATAACCATGGACTCAGCTTCAGGCACGGCAGAGAAGAACAGAGGAATCTTGTCAAGAGGGTCTACAGGGTGGATAAAGCTAGAAGACTCCACAGGGTGGAAAGCTAGAAGACTCTCAAGCCTACAGGAGTCCACAAGCAGCTTTGATGAAGAATGGAAACTTCTG... |
Task1_train_26053 | This alteration in MYO5B (myosin VB) on Chromosome 18 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cholestasis, progressive familial intrahepatic, 10 | AAATTGTGAATTTGATCTTTCAGACAAACAGAGATATGCCTTTTTCTTTCCCATAAGGTCACATTCTGGATGTCAGAAGACCCACTGACTGAGGTACAAAAACCAGAAGCCTTTCCAGTCACTTGGGAAGGAGAAGGCAATGAAAGGGCGACTGCTAAGATGGGAAGTCTCCGACATTGTGTTCCCTTCTGGTGTCTGAAAAGAGACACTGGGAACGCGAAGTGTAATAAACCAGATTATTCCACATAAAGGGGAAAGGGCCAGGGGGTAAAAAAGACACTCAAGTCCTCTTGAAAGAAGTTTGCCTGAAAAGACCAAAA... | AAATTGTGAATTTGATCTTTCAGACAAACAGAGATATGCCTTTTTCTTTCCCATAAGGTCACATTCTGGATGTCAGAAGACCCACTGACTGAGGTACAAAAACCAGAAGCCTTTCCAGTCACTTGGGAAGGAGAAGGCAATGAAAGGGCGACTGCTAAGATGGGAAGTCTCCGACATTGTGTTCCCTTCTGGTGTCTGAAAAGAGACACTGGGAACGCGAAGTGTAATAAACCAGATTATTCCACATAAAGGGGAAAGGGCCAGGGGGTAAAAAAGACACTCAAGTCCTCTTGAAAGAAGTTTGCCTGAAAAGACCAAAA... |
Task1_train_26054 | A variant found in Chromosome 18 affects SMAD4 (SMAD family member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | CCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGT... | CCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGT... |
Task1_train_26055 | Consider this mutation in SMAD4 (SMAD family member 4) on Chromosome 18. Is this a benign change or a disease-causing variant? | Pathogenic; Juvenile polyposis syndrome | CCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGT... | CCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGT... |
Task1_train_26056 | Mutation context: Chromosome 18, Gene SMAD4 (SMAD family member 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | CCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGT... | CCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGT... |
Task1_train_26057 | This is a variant in SMAD4 (SMAD family member 4), located on Chromosome 18. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary cancer-predisposing syndrome | CCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGT... | CCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGT... |
Task1_train_26058 | Located on Chromosome 18, this mutation impacts SMAD4 (SMAD family member 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGT... | CCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGT... |
Task1_train_26059 | Gene SMAD4 (SMAD family member 4) on Chromosome 18 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Juvenile polyposis syndrome | CCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGT... | CCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGT... |
Task1_train_26060 | A mutation found in SMAD4 (SMAD family member 4) on Chromosome 18 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Neoplasm | CCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGT... | CCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGT... |
Task1_train_26061 | A variant affecting Chromosome 18, within the gene SMAD4 (SMAD family member 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Carcinoma of pancreas | CTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTA... | CTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTA... |
Task1_train_26062 | This gene mutation involves SMAD4 (SMAD family member 4) on Chromosome 18. Is it associated with any clinical condition, or is it benign? | Pathogenic; Myhre syndrome | CTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTA... | CTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTA... |
Task1_train_26063 | A mutation on Chromosome 18 affecting SMAD4 (SMAD family member 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Generalized juvenile polyposis/juvenile polyposis coli | CTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTA... | CTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTA... |
Task1_train_26064 | Gene SMAD4 (SMAD family member 4) on Chromosome 18 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | CTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTA... | CTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTA... |
Task1_train_26065 | This gene mutation involves SMAD4 (SMAD family member 4) on Chromosome 18. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | CTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTA... | CTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTA... |
Task1_train_26066 | A change on Chromosome 18 affects gene SMAD4 (SMAD family member 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTA... | CTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTA... |
Task1_train_26067 | This variant impacts the gene SMAD4 (SMAD family member 4) on Chromosome 18. Is the change likely to result in a pathogenic outcome? | Pathogenic; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | CTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTA... | CTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTA... |
Task1_train_26068 | Given this context: Chromosome 18, gene SMAD4 (SMAD family member 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Juvenile polyposis syndrome | CTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTA... | CTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTA... |
Task1_train_26069 | A variant on Chromosome 18 in gene SMAD4 (SMAD family member 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Neoplasm | CTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTA... | CTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTA... |
Task1_train_26070 | This variant affects gene SMAD4 (SMAD family member 4) located on Chromosome 18. Evaluate its biological effect and specify any disease association. | Pathogenic; Carcinoma of pancreas | GACAAAAAGTTGGCCAGGCGACCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGT... | GACAAAAAGTTGGCCAGGCGACCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGT... |
Task1_train_26071 | An alteration has been detected in SMAD4 (SMAD family member 4) on Chromosome 18. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Juvenile polyposis syndrome | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... |
Task1_train_26072 | Gene SMAD4 (SMAD family member 4) on Chromosome 18 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; SMAD4-related disorder | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... |
Task1_train_26073 | Chromosome 18 houses a mutation in gene SMAD4 (SMAD family member 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Neurodevelopmental delay | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... |
Task1_train_26074 | This genomic variant is located on Chromosome 18, within the SMAD4 (SMAD family member 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Myhre syndrome | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... |
Task1_train_26075 | This genomic variant is located on Chromosome 18, within the SMAD4 (SMAD family member 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Carcinoma of pancreas | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... |
Task1_train_26076 | A genetic alteration is present in SMAD4 (SMAD family member 4) on Chromosome 18. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Generalized juvenile polyposis/juvenile polyposis coli | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... |
Task1_train_26077 | A variant has been detected on Chromosome 18 in SMAD4 (SMAD family member 4). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... |
Task1_train_26078 | A genomic change on Chromosome 18 affects SMAD4 (SMAD family member 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Myhre syndrome | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... |
Task1_train_26079 | With a mutation on Chromosome 18 in gene SMAD4 (SMAD family member 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... |
Task1_train_26080 | This alteration in SMAD4 (SMAD family member 4) on Chromosome 18 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... |
Task1_train_26081 | Gene SMAD4 (SMAD family member 4) on Chromosome 18 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... |
Task1_train_26082 | This is a variant in SMAD4 (SMAD family member 4), located on Chromosome 18. Is this mutation a likely cause of disease or not? | Pathogenic; Intellectual disability | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... |
Task1_train_26083 | With a mutation on Chromosome 18 in gene SMAD4 (SMAD family member 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Generalized juvenile polyposis/juvenile polyposis coli | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... |
Task1_train_26084 | A variant has been detected on Chromosome 18 in SMAD4 (SMAD family member 4). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... |
Task1_train_26085 | Given a variant located on Chromosome 18 and affecting SMAD4 (SMAD family member 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Myhre syndrome | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... |
Task1_train_26086 | The gene SMAD4 (SMAD family member 4), on Chromosome 18, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Generalized juvenile polyposis/juvenile polyposis coli | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... | CCAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGG... |
Task1_train_26087 | A mutation found in SMAD4 (SMAD family member 4) on Chromosome 18 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Juvenile polyposis syndrome | CAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGGT... | CAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGGT... |
Task1_train_26088 | This mutation is located in gene SMAD4 (SMAD family member 4) on Chromosome 18. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; SMAD4-related disorder | CAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGGT... | CAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGGT... |
Task1_train_26089 | Here is a variant affecting SMAD4 (SMAD family member 4) on Chromosome 18. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Myhre syndrome | CAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGGT... | CAAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGGT... |
Task1_train_26090 | Chromosome 18 houses a mutation in gene SMAD4 (SMAD family member 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Juvenile polyposis syndrome | AAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGGTT... | AAAGCTATCAACTCCAGCCTAAGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGGTT... |
Task1_train_26091 | A variant was discovered on Chromosome 18, affecting DCC (DCC netrin 1 receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Esophageal carcinoma, somatic | AGGCATCCCCATGGATCCAGATTTCAGAGCCTTAGTTTAAGAATCAGATGAGTAATTTTAGAATATATATGTGAGGGATAAATTAATATTTGCATCAATATTAAGGTTTTTGCATGGTATAGCATTAATCTTTCTTACAAAGAACAATCTTAATATTGCATCTCTAGGATTGCAGGTCTATTTCTGTGGATGTAGCTATAATGAGTGATATCCTTCAGCAGCTTGTACCTAACCCACATATAATTTTGGTCTAATTTTATATTTCATAGATTCAGTTATTTTGTGGTCCAAAACTCTAATCCCTAAAAGAGACGTAAAAT... | AGGCATCCCCATGGATCCAGATTTCAGAGCCTTAGTTTAAGAATCAGATGAGTAATTTTAGAATATATATGTGAGGGATAAATTAATATTTGCATCAATATTAAGGTTTTTGCATGGTATAGCATTAATCTTTCTTACAAAGAACAATCTTAATATTGCATCTCTAGGATTGCAGGTCTATTTCTGTGGATGTAGCTATAATGAGTGATATCCTTCAGCAGCTTGTACCTAACCCACATATAATTTTGGTCTAATTTTATATTTCATAGATTCAGTTATTTTGTGGTCCAAAACTCTAATCCCTAAAAGAGACGTAAAAT... |
Task1_train_26092 | A variant has been detected on Chromosome 18 in DCC (DCC netrin 1 receptor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Corpus callosum, agenesis of | CCTTAGACTAAGGGGTGATTGCCCTCCTAGTCAATGGCGTTTGCCAAACTGCTTTTTTCATTCTAAGACATTTATATCTAACTCCCTTCCATCATCAGGATGTGTCCTACCATTTTTTAATGTTTTCAGAAGAACTTACTCTGAGAAGCCTAGTCTCCTTCTCCTTACATTTTGCTCCTACCCAATGGTTAGCATAGACACCTGAAAAGAAGCAAATTAACTGTTCAGGTAAACTAAAAGTAAAAAGGTCTTTAGGGAGACACATGAAACTGAAAAATTCTATTTGGTGATACATGCACACACATATGTTAAAAATAGAA... | CCTTAGACTAAGGGGTGATTGCCCTCCTAGTCAATGGCGTTTGCCAAACTGCTTTTTTCATTCTAAGACATTTATATCTAACTCCCTTCCATCATCAGGATGTGTCCTACCATTTTTTAATGTTTTCAGAAGAACTTACTCTGAGAAGCCTAGTCTCCTTCTCCTTACATTTTGCTCCTACCCAATGGTTAGCATAGACACCTGAAAAGAAGCAAATTAACTGTTCAGGTAAACTAAAAGTAAAAAGGTCTTTAGGGAGACACATGAAACTGAAAAATTCTATTTGGTGATACATGCACACACATATGTTAAAAATAGAA... |
Task1_train_26093 | This variant impacts the gene DCC (DCC netrin 1 receptor) on Chromosome 18. Is the change likely to result in a pathogenic outcome? | Pathogenic; Mirror movements 1 | AATGTTACCTATTTTGAAAACTTTAATAAGAACATGCTTCTATCTATCACTTAAGCTAGAAGTGGGAATGCTGCATATGGATAAAAGTGGAGGGGGCTGTGCCAGTTTTTGGTACTACATTAAGGAGAAAAATGTAATATTACCTCTAGTCATCAGATTTCCTTGCATAATTTGGCATATGTTACCTTCAGAGATTTTCTAAATCACTGGACACAGACATTTCTGGAACATAAATAATGAACAGAATCACTTTAATAAAATTCAAATCACTGATATTTTTGAGTACTTATTAATTGCCAAGAACTGTGTTAAGCACTTAT... | AATGTTACCTATTTTGAAAACTTTAATAAGAACATGCTTCTATCTATCACTTAAGCTAGAAGTGGGAATGCTGCATATGGATAAAAGTGGAGGGGGCTGTGCCAGTTTTTGGTACTACATTAAGGAGAAAAATGTAATATTACCTCTAGTCATCAGATTTCCTTGCATAATTTGGCATATGTTACCTTCAGAGATTTTCTAAATCACTGGACACAGACATTTCTGGAACATAAATAATGAACAGAATCACTTTAATAAAATTCAAATCACTGATATTTTTGAGTACTTATTAATTGCCAAGAACTGTGTTAAGCACTTAT... |
Task1_train_26094 | This sequence change occurs on Chromosome 18, altering DCC (DCC netrin 1 receptor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not specified | ATGCTTCTATCTATCACTTAAGCTAGAAGTGGGAATGCTGCATATGGATAAAAGTGGAGGGGGCTGTGCCAGTTTTTGGTACTACATTAAGGAGAAAAATGTAATATTACCTCTAGTCATCAGATTTCCTTGCATAATTTGGCATATGTTACCTTCAGAGATTTTCTAAATCACTGGACACAGACATTTCTGGAACATAAATAATGAACAGAATCACTTTAATAAAATTCAAATCACTGATATTTTTGAGTACTTATTAATTGCCAAGAACTGTGTTAAGCACTTATTGAAGTTTGGATGGGCACATTCTTTCTTACATA... | ATGCTTCTATCTATCACTTAAGCTAGAAGTGGGAATGCTGCATATGGATAAAAGTGGAGGGGGCTGTGCCAGTTTTTGGTACTACATTAAGGAGAAAAATGTAATATTACCTCTAGTCATCAGATTTCCTTGCATAATTTGGCATATGTTACCTTCAGAGATTTTCTAAATCACTGGACACAGACATTTCTGGAACATAAATAATGAACAGAATCACTTTAATAAAATTCAAATCACTGATATTTTTGAGTACTTATTAATTGCCAAGAACTGTGTTAAGCACTTATTGAAGTTTGGATGGGCACATTCTTTCTTACATA... |
Task1_train_26095 | The gene DCC (DCC netrin 1 receptor) on Chromosome 18 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Mirror movements 1 | AAACATTTAGCCATTACAAAATAAAATATCTTTCCTTTAACTTAGTCTTAGTTTATTAAATTTTTATTCACCAGTTAGCTATTAAATCAGTATCTCTTCTGGTCATCGTATATGCCTAAAGCTCATTTACTAGTAGTTCTGGGGATCAGGGAACAATATTCCTGAGTACTTGCAAGTGGATAAGTTTGTACCCTTTATGTTTAAAGTTAATTTTTGTTGACTATAAAACTTTGAATTACATTTTCTTATGTTGAGTATCTAAAGTTACTCTAATTTCTTCTGCCGTAAAATGTTATATAAAGCCTGATAATCTAATTTTT... | AAACATTTAGCCATTACAAAATAAAATATCTTTCCTTTAACTTAGTCTTAGTTTATTAAATTTTTATTCACCAGTTAGCTATTAAATCAGTATCTCTTCTGGTCATCGTATATGCCTAAAGCTCATTTACTAGTAGTTCTGGGGATCAGGGAACAATATTCCTGAGTACTTGCAAGTGGATAAGTTTGTACCCTTTATGTTTAAAGTTAATTTTTGTTGACTATAAAACTTTGAATTACATTTTCTTATGTTGAGTATCTAAAGTTACTCTAATTTCTTCTGCCGTAAAATGTTATATAAAGCCTGATAATCTAATTTTT... |
Task1_train_26096 | Assess the clinical impact of this variant on gene DCC (DCC netrin 1 receptor), found on Chromosome 18. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Corpus callosum, agenesis of | AAACATTTAGCCATTACAAAATAAAATATCTTTCCTTTAACTTAGTCTTAGTTTATTAAATTTTTATTCACCAGTTAGCTATTAAATCAGTATCTCTTCTGGTCATCGTATATGCCTAAAGCTCATTTACTAGTAGTTCTGGGGATCAGGGAACAATATTCCTGAGTACTTGCAAGTGGATAAGTTTGTACCCTTTATGTTTAAAGTTAATTTTTGTTGACTATAAAACTTTGAATTACATTTTCTTATGTTGAGTATCTAAAGTTACTCTAATTTCTTCTGCCGTAAAATGTTATATAAAGCCTGATAATCTAATTTTT... | AAACATTTAGCCATTACAAAATAAAATATCTTTCCTTTAACTTAGTCTTAGTTTATTAAATTTTTATTCACCAGTTAGCTATTAAATCAGTATCTCTTCTGGTCATCGTATATGCCTAAAGCTCATTTACTAGTAGTTCTGGGGATCAGGGAACAATATTCCTGAGTACTTGCAAGTGGATAAGTTTGTACCCTTTATGTTTAAAGTTAATTTTTGTTGACTATAAAACTTTGAATTACATTTTCTTATGTTGAGTATCTAAAGTTACTCTAATTTCTTCTGCCGTAAAATGTTATATAAAGCCTGATAATCTAATTTTT... |
Task1_train_26097 | A variant affecting Chromosome 18, within the gene DCC (DCC netrin 1 receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Mirror movements 1 | TTAACTTAGTCTTAGTTTATTAAATTTTTATTCACCAGTTAGCTATTAAATCAGTATCTCTTCTGGTCATCGTATATGCCTAAAGCTCATTTACTAGTAGTTCTGGGGATCAGGGAACAATATTCCTGAGTACTTGCAAGTGGATAAGTTTGTACCCTTTATGTTTAAAGTTAATTTTTGTTGACTATAAAACTTTGAATTACATTTTCTTATGTTGAGTATCTAAAGTTACTCTAATTTCTTCTGCCGTAAAATGTTATATAAAGCCTGATAATCTAATTTTTTTTTCTAAGTCATATATTATTTTTGTCTGGATGCCT... | TTAACTTAGTCTTAGTTTATTAAATTTTTATTCACCAGTTAGCTATTAAATCAGTATCTCTTCTGGTCATCGTATATGCCTAAAGCTCATTTACTAGTAGTTCTGGGGATCAGGGAACAATATTCCTGAGTACTTGCAAGTGGATAAGTTTGTACCCTTTATGTTTAAAGTTAATTTTTGTTGACTATAAAACTTTGAATTACATTTTCTTATGTTGAGTATCTAAAGTTACTCTAATTTCTTCTGCCGTAAAATGTTATATAAAGCCTGATAATCTAATTTTTTTTTCTAAGTCATATATTATTTTTGTCTGGATGCCT... |
Task1_train_26098 | This alteration occurs within gene DCC (DCC netrin 1 receptor) located on Chromosome 18. Is it associated with a disease or is it a benign variant? | Pathogenic; Corpus callosum, agenesis of | TTAACTTAGTCTTAGTTTATTAAATTTTTATTCACCAGTTAGCTATTAAATCAGTATCTCTTCTGGTCATCGTATATGCCTAAAGCTCATTTACTAGTAGTTCTGGGGATCAGGGAACAATATTCCTGAGTACTTGCAAGTGGATAAGTTTGTACCCTTTATGTTTAAAGTTAATTTTTGTTGACTATAAAACTTTGAATTACATTTTCTTATGTTGAGTATCTAAAGTTACTCTAATTTCTTCTGCCGTAAAATGTTATATAAAGCCTGATAATCTAATTTTTTTTTCTAAGTCATATATTATTTTTGTCTGGATGCCT... | TTAACTTAGTCTTAGTTTATTAAATTTTTATTCACCAGTTAGCTATTAAATCAGTATCTCTTCTGGTCATCGTATATGCCTAAAGCTCATTTACTAGTAGTTCTGGGGATCAGGGAACAATATTCCTGAGTACTTGCAAGTGGATAAGTTTGTACCCTTTATGTTTAAAGTTAATTTTTGTTGACTATAAAACTTTGAATTACATTTTCTTATGTTGAGTATCTAAAGTTACTCTAATTTCTTCTGCCGTAAAATGTTATATAAAGCCTGATAATCTAATTTTTTTTTCTAAGTCATATATTATTTTTGTCTGGATGCCT... |
Task1_train_26099 | This genomic variant is located on Chromosome 18, within the DCC (DCC netrin 1 receptor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Corpus callosum, agenesis of | ATTTCTTGAAGAAGAATCACCCTATTTCAAAACGTTATGTATGGCACCTGTGAAAAAACTATACAGTTAATGTATGTTTACCAATAAAACTGGATTAAGAAAACAGTAAAATAGGTCAAAAGAGGAGTTTGTAAATTAGAAAACGTCCCATATGTGTATCACGTTCTTCTTGTAAAGCCAGCTAAAACTAGAAACAAGTAAAACAAAGTAGCACCTGCTTTAATTTGGCAAAAATGTCTTCCACTGCTACACAAACCGATGAATGATTGGAATCCTTGTGGAGACTGCAACGTCTTCTCTTTCCCCTTCATCGTTTTATA... | ATTTCTTGAAGAAGAATCACCCTATTTCAAAACGTTATGTATGGCACCTGTGAAAAAACTATACAGTTAATGTATGTTTACCAATAAAACTGGATTAAGAAAACAGTAAAATAGGTCAAAAGAGGAGTTTGTAAATTAGAAAACGTCCCATATGTGTATCACGTTCTTCTTGTAAAGCCAGCTAAAACTAGAAACAAGTAAAACAAAGTAGCACCTGCTTTAATTTGGCAAAAATGTCTTCCACTGCTACACAAACCGATGAATGATTGGAATCCTTGTGGAGACTGCAACGTCTTCTCTTTCCCCTTCATCGTTTTATA... |
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