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_16000 | The gene KCNK4, KCNK4-CATSPERZ (potassium two pore domain channel subfamily K member 4| KCNK4-CATSPERZ readthrough (NMD candidate)) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Abnormal facial shape | TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTAC... | TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTAC... |
Task1_train_16001 | A change on Chromosome 11 affects gene KCNK4, KCNK4-CATSPERZ (potassium two pore domain channel subfamily K member 4| KCNK4-CATSPERZ readthrough (NMD candidate)). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Generalized hypertrichosis | TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTAC... | TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTAC... |
Task1_train_16002 | This alteration occurs within gene KCNK4, KCNK4-CATSPERZ (potassium two pore domain channel subfamily K member 4| KCNK4-CATSPERZ readthrough (NMD candidate)) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Intellectual disability | TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTAC... | TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTAC... |
Task1_train_16003 | Here is a genetic alteration in KCNK4, KCNK4-CATSPERZ (potassium two pore domain channel subfamily K member 4| KCNK4-CATSPERZ readthrough (NMD candidate)) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Gingival overgrowth | TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTAC... | TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTAC... |
Task1_train_16004 | Chromosome 11 houses a mutation in gene KCNK4, KCNK4-CATSPERZ (potassium two pore domain channel subfamily K member 4| KCNK4-CATSPERZ readthrough (NMD candidate)). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Seizure | TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTAC... | TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTAC... |
Task1_train_16005 | The variant affects gene SLC22A12 (solute carrier family 22 member 12), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Familial renal hypouricemia | TGGGTTGCCATCACTGCTGCACTGCACATATACGCATGCACACATGTACACACATGCACTTGTGCAAACACATGTGCACACATACACAGACATGTGCACACACCCACATATACATACACTTCTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGATAAGAGTCTTTCTCTGTCAACCAGGCTGGAGGGCAGTGGTGCAATCTCAGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGCTGTGCACCACGACCATGCTCAGCTAACTTTTGTATTTTTA... | TGGGTTGCCATCACTGCTGCACTGCACATATACGCATGCACACATGTACACACATGCACTTGTGCAAACACATGTGCACACATACACAGACATGTGCACACACCCACATATACATACACTTCTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGATAAGAGTCTTTCTCTGTCAACCAGGCTGGAGGGCAGTGGTGCAATCTCAGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGCTGTGCACCACGACCATGCTCAGCTAACTTTTGTATTTTTA... |
Task1_train_16006 | An alteration has been detected in SLC22A12 (solute carrier family 22 member 12) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Dalmatian hypouricemia | TGGGTTGCCATCACTGCTGCACTGCACATATACGCATGCACACATGTACACACATGCACTTGTGCAAACACATGTGCACACATACACAGACATGTGCACACACCCACATATACATACACTTCTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGATAAGAGTCTTTCTCTGTCAACCAGGCTGGAGGGCAGTGGTGCAATCTCAGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGCTGTGCACCACGACCATGCTCAGCTAACTTTTGTATTTTTA... | TGGGTTGCCATCACTGCTGCACTGCACATATACGCATGCACACATGTACACACATGCACTTGTGCAAACACATGTGCACACATACACAGACATGTGCACACACCCACATATACATACACTTCTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGATAAGAGTCTTTCTCTGTCAACCAGGCTGGAGGGCAGTGGTGCAATCTCAGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGCTGTGCACCACGACCATGCTCAGCTAACTTTTGTATTTTTA... |
Task1_train_16007 | A variant was discovered in gene SLC22A12 (solute carrier family 22 member 12), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Dalmatian hypouricemia | TCTGTTGATGCTGGGAAGCTCCACCGAGGACTCAGGACAGGGTAACAGCAAAGCGGGCACAGGACGCCAACCACAGCAGGTGAGTGGAGGCAGGAGCCACGGGTGGGGCCAGGCCACACAGCCTGGGAGGCGCAGGGGCTGGGCAGCTGCCAGTGACCCAAGCCCACACAGAGACTTGCACAGCTGCCCCAGCCCCAAATTAGGGGGATCCCCTGGCCCACCTTCTCTTGGCTCAGCCACTCTGGGAGGTGGGCACACAGGGGCACCGAAGGGAGCAGGCAGCCCTGGCATCCCACAGCCGCCAGGAGAAAAACTTAGGC... | TCTGTTGATGCTGGGAAGCTCCACCGAGGACTCAGGACAGGGTAACAGCAAAGCGGGCACAGGACGCCAACCACAGCAGGTGAGTGGAGGCAGGAGCCACGGGTGGGGCCAGGCCACACAGCCTGGGAGGCGCAGGGGCTGGGCAGCTGCCAGTGACCCAAGCCCACACAGAGACTTGCACAGCTGCCCCAGCCCCAAATTAGGGGGATCCCCTGGCCCACCTTCTCTTGGCTCAGCCACTCTGGGAGGTGGGCACACAGGGGCACCGAAGGGAGCAGGCAGCCCTGGCATCCCACAGCCGCCAGGAGAAAAACTTAGGC... |
Task1_train_16008 | Here is a genetic alteration in SLC22A12 (solute carrier family 22 member 12) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Dalmatian hypouricemia | CAGGAGCCACGGGTGGGGCCAGGCCACACAGCCTGGGAGGCGCAGGGGCTGGGCAGCTGCCAGTGACCCAAGCCCACACAGAGACTTGCACAGCTGCCCCAGCCCCAAATTAGGGGGATCCCCTGGCCCACCTTCTCTTGGCTCAGCCACTCTGGGAGGTGGGCACACAGGGGCACCGAAGGGAGCAGGCAGCCCTGGCATCCCACAGCCGCCAGGAGAAAAACTTAGGCCTCCCCAAGACCTGGCACAGAGCAGGCCGGCCCTGGCCCCCAAGCAGAGGAGGCTGCACCTCCCTCGCGTCTGTGCCTGCCTCAACGCGG... | CAGGAGCCACGGGTGGGGCCAGGCCACACAGCCTGGGAGGCGCAGGGGCTGGGCAGCTGCCAGTGACCCAAGCCCACACAGAGACTTGCACAGCTGCCCCAGCCCCAAATTAGGGGGATCCCCTGGCCCACCTTCTCTTGGCTCAGCCACTCTGGGAGGTGGGCACACAGGGGCACCGAAGGGAGCAGGCAGCCCTGGCATCCCACAGCCGCCAGGAGAAAAACTTAGGCCTCCCCAAGACCTGGCACAGAGCAGGCCGGCCCTGGCCCCCAAGCAGAGGAGGCTGCACCTCCCTCGCGTCTGTGCCTGCCTCAACGCGG... |
Task1_train_16009 | Given this context: Chromosome 11, gene SLC22A12 (solute carrier family 22 member 12) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Dalmatian hypouricemia | TTGTTTGGTCATTGGGACCACTGTAGAAAGGAGCACAGCAGAGGCCCAGTGGTGAGCAGGTGCCCGCACCCACACTAAGAAGAAGGCTGAGTCCACAAATCTCTCCCACCCAACAGCTTGGAGTGGAGTAACAATTTGCAGCCACTCCTCAGAGCAGGAGAAAATTACATCTCATACAGTGGCTCCACAAGGAGGCAATCGTGTCCGACAAGAGCCTTCTGGGATGGCAGCTTGACTCCCAACACCAAGAGGGTAGAGAGTGGAAGGTAAAGGTCAGTGATAAAAATTCCAAGGCACCCCTCCTGGTTCTCATGCTGATG... | TTGTTTGGTCATTGGGACCACTGTAGAAAGGAGCACAGCAGAGGCCCAGTGGTGAGCAGGTGCCCGCACCCACACTAAGAAGAAGGCTGAGTCCACAAATCTCTCCCACCCAACAGCTTGGAGTGGAGTAACAATTTGCAGCCACTCCTCAGAGCAGGAGAAAATTACATCTCATACAGTGGCTCCACAAGGAGGCAATCGTGTCCGACAAGAGCCTTCTGGGATGGCAGCTTGACTCCCAACACCAAGAGGGTAGAGAGTGGAAGGTAAAGGTCAGTGATAAAAATTCCAAGGCACCCCTCCTGGTTCTCATGCTGATG... |
Task1_train_16010 | The following genetic variant occurs in SLC22A12 (solute carrier family 22 member 12) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Dalmatian hypouricemia | CCCGGTGGGTGTAGGGCAGGTGGCCCCACCCTGGCTGCTCATAGGGGACAACACGTCTGGCTGAAGGACCTGCAGGAGCCAAGGCCTAGAGGCAGGCCCCGTGTAGAGTGGTGGGCATGGCAGGCGCTCAGCAGGCGGGGCGGGACGGTGTGGCATAAGCTCGGTTTGACACTGAGGGTAGTGGGAGACAGGTCAGTGTGAGGGGCTGGGTCCTGCCACAAGGAGGGGAGGTGCTGGGCTCATGAGGCCGAGATAGCAGAGACTCAGGTGCGAGGGGTCCTGGAGGTGTGGGAATCAGCTGACAGGGTGCGGCCAGAGGG... | CCCGGTGGGTGTAGGGCAGGTGGCCCCACCCTGGCTGCTCATAGGGGACAACACGTCTGGCTGAAGGACCTGCAGGAGCCAAGGCCTAGAGGCAGGCCCCGTGTAGAGTGGTGGGCATGGCAGGCGCTCAGCAGGCGGGGCGGGACGGTGTGGCATAAGCTCGGTTTGACACTGAGGGTAGTGGGAGACAGGTCAGTGTGAGGGGCTGGGTCCTGCCACAAGGAGGGGAGGTGCTGGGCTCATGAGGCCGAGATAGCAGAGACTCAGGTGCGAGGGGTCCTGGAGGTGTGGGAATCAGCTGACAGGGTGCGGCCAGAGGG... |
Task1_train_16011 | This mutation occurs in SLC22A12 (solute carrier family 22 member 12) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Dalmatian hypouricemia | GGCAGGTGGCCCCACCCTGGCTGCTCATAGGGGACAACACGTCTGGCTGAAGGACCTGCAGGAGCCAAGGCCTAGAGGCAGGCCCCGTGTAGAGTGGTGGGCATGGCAGGCGCTCAGCAGGCGGGGCGGGACGGTGTGGCATAAGCTCGGTTTGACACTGAGGGTAGTGGGAGACAGGTCAGTGTGAGGGGCTGGGTCCTGCCACAAGGAGGGGAGGTGCTGGGCTCATGAGGCCGAGATAGCAGAGACTCAGGTGCGAGGGGTCCTGGAGGTGTGGGAATCAGCTGACAGGGTGCGGCCAGAGGGCGCTGGTGCTGTTG... | GGCAGGTGGCCCCACCCTGGCTGCTCATAGGGGACAACACGTCTGGCTGAAGGACCTGCAGGAGCCAAGGCCTAGAGGCAGGCCCCGTGTAGAGTGGTGGGCATGGCAGGCGCTCAGCAGGCGGGGCGGGACGGTGTGGCATAAGCTCGGTTTGACACTGAGGGTAGTGGGAGACAGGTCAGTGTGAGGGGCTGGGTCCTGCCACAAGGAGGGGAGGTGCTGGGCTCATGAGGCCGAGATAGCAGAGACTCAGGTGCGAGGGGTCCTGGAGGTGTGGGAATCAGCTGACAGGGTGCGGCCAGAGGGCGCTGGTGCTGTTG... |
Task1_train_16012 | Given this context: Chromosome 11, gene SLC22A12 (solute carrier family 22 member 12) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Dalmatian hypouricemia | CTGAGGGTAGTGGGAGACAGGTCAGTGTGAGGGGCTGGGTCCTGCCACAAGGAGGGGAGGTGCTGGGCTCATGAGGCCGAGATAGCAGAGACTCAGGTGCGAGGGGTCCTGGAGGTGTGGGAATCAGCTGACAGGGTGCGGCCAGAGGGCGCTGGTGCTGTTGGGGACCCTGGTCCCAGCCTGAGCCCCGGGGTGGCTGTGAAGCTGTTTGCAGGAGGAAGATGCAGCCATGGGGTGGACAGGAAGGCCATGTGGTATGGGAGGTGCCAGGACAGGGGTGGACCCCAGTCGCCTTGGAGATGGCCAAGGTCCTGGCAGTG... | CTGAGGGTAGTGGGAGACAGGTCAGTGTGAGGGGCTGGGTCCTGCCACAAGGAGGGGAGGTGCTGGGCTCATGAGGCCGAGATAGCAGAGACTCAGGTGCGAGGGGTCCTGGAGGTGTGGGAATCAGCTGACAGGGTGCGGCCAGAGGGCGCTGGTGCTGTTGGGGACCCTGGTCCCAGCCTGAGCCCCGGGGTGGCTGTGAAGCTGTTTGCAGGAGGAAGATGCAGCCATGGGGTGGACAGGAAGGCCATGTGGTATGGGAGGTGCCAGGACAGGGGTGGACCCCAGTCGCCTTGGAGATGGCCAAGGTCCTGGCAGTG... |
Task1_train_16013 | Located on Chromosome 11, this mutation impacts SLC22A12 (solute carrier family 22 member 12). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Dalmatian hypouricemia | TTTCAGCCATGCGGGAGGAGCTGAGCATGGGCCAGCCTCCTGCCAGCCTGGGCACCCTGCTCCGCATGCCCGGACTGCGCTTCCGGACCTGTATCTCCACGTTGTGCTGGTAGATGCCCTTCCCCCAACCCCACCTCCACAGGGGAACCTGGAATCGGGGCTCTCGCTGGCACACGGCCCCGGCCTCTGCTGGCTCCGCTTGGTCCCACTGGCCTGCAACACCGACACCTTCCCCTCTGTCAGTCACTCCCGACAGGAGACAACCCAGGCCGGGTGGGCTCACTGAGGGGGCCTTAATAAGGGGCAAGGCAGATAAAAGA... | TTTCAGCCATGCGGGAGGAGCTGAGCATGGGCCAGCCTCCTGCCAGCCTGGGCACCCTGCTCCGCATGCCCGGACTGCGCTTCCGGACCTGTATCTCCACGTTGTGCTGGTAGATGCCCTTCCCCCAACCCCACCTCCACAGGGGAACCTGGAATCGGGGCTCTCGCTGGCACACGGCCCCGGCCTCTGCTGGCTCCGCTTGGTCCCACTGGCCTGCAACACCGACACCTTCCCCTCTGTCAGTCACTCCCGACAGGAGACAACCCAGGCCGGGTGGGCTCACTGAGGGGGCCTTAATAAGGGGCAAGGCAGATAAAAGA... |
Task1_train_16014 | An alteration has been detected in RASGRP2 (RAS guanyl releasing protein 2) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Platelet-type bleeding disorder 18 | CAGTCACCCAGGCTGAAGTGCAGTGGTGTGATGACAGCTCACTGCAGTCTCAACCTCCTGGGCTCAAGGGTTCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGTGCCACCCATGCCCAAAAAAAATTTTTTTAGGCTAGGAGCAGTAGCTCATGCCTGTAATCCTAGCACTTTGGGGGGCCAAGGCAGGTAGATCACTTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTGCTAAAAATACAAAAATTAGCCAGGCACGGTGATGCATGCCTGTAATCCCAGCTACTCA... | CAGTCACCCAGGCTGAAGTGCAGTGGTGTGATGACAGCTCACTGCAGTCTCAACCTCCTGGGCTCAAGGGTTCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGTGCCACCCATGCCCAAAAAAAATTTTTTTAGGCTAGGAGCAGTAGCTCATGCCTGTAATCCTAGCACTTTGGGGGGCCAAGGCAGGTAGATCACTTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTGCTAAAAATACAAAAATTAGCCAGGCACGGTGATGCATGCCTGTAATCCCAGCTACTCA... |
Task1_train_16015 | This gene mutation involves RASGRP2 (RAS guanyl releasing protein 2) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Platelet-type bleeding disorder 18 | AAAACCAGCTGGGCGTGGTGGCTCACACTTGTAATCTCAGCACTTTGGGAGGCCATGGCAGATGGATCATGAGGTCAAGAGATGGAGACCATCTTGGCCAACATGGTGGAAACCTCATCTCTACTAAAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGGTGCAGTGATGCAGTGAGCCAAATTAGCGTCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAA... | AAAACCAGCTGGGCGTGGTGGCTCACACTTGTAATCTCAGCACTTTGGGAGGCCATGGCAGATGGATCATGAGGTCAAGAGATGGAGACCATCTTGGCCAACATGGTGGAAACCTCATCTCTACTAAAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGGTGCAGTGATGCAGTGAGCCAAATTAGCGTCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAA... |
Task1_train_16016 | The gene PYGM (glycogen phosphorylase, muscle associated), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Glycogen storage disease, type V | GACCTGCCGCAAGGAGCCCGCACCGGCCTGGCCGACCCCACCTCCGTGCGCTCCCGCCCGCCGGCCTCGCTGCGGCTGCGGCTCCCGCCCGCTCTCCACGCCGCGGCCCCGCTCCCCGCCGCCCCGCCCCCGCCCCCGCGCCAGGCTGCCCCCTCCCCCCTCCGCCCCTGCGCGGAGCTCCGCACCGCCGGCTGCGCCACCCCCACCGGGGGCTCCCTCTCGCCCCGCACGCGGCGGTCCCTGCGGCAGCTTAACCCCTCCCCTGCCGCGCCGCCCGGGAGGCCAGGGCCGCGGGCGGGGGGCTGCGCCACTAGCTGCCC... | GACCTGCCGCAAGGAGCCCGCACCGGCCTGGCCGACCCCACCTCCGTGCGCTCCCGCCCGCCGGCCTCGCTGCGGCTGCGGCTCCCGCCCGCTCTCCACGCCGCGGCCCCGCTCCCCGCCGCCCCGCCCCCGCCCCCGCGCCAGGCTGCCCCCTCCCCCCTCCGCCCCTGCGCGGAGCTCCGCACCGCCGGCTGCGCCACCCCCACCGGGGGCTCCCTCTCGCCCCGCACGCGGCGGTCCCTGCGGCAGCTTAACCCCTCCCCTGCCGCGCCGCCCGGGAGGCCAGGGCCGCGGGCGGGGGGCTGCGCCACTAGCTGCCC... |
Task1_train_16017 | Given this variant in gene PYGM (glycogen phosphorylase, muscle associated) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Glycogen storage disease, type V | AGGAGACACTTCTTTCAGTGTTTAATGCCAACTCTGGGAAGCTGTTGTGGGAGTGTAAACTGGGAGAAACTTTCTGGAAAGCAGTTTGGCAATCTGTATCAAGAGCCTTAAGAACTCATACTTTTTAACTCAGAAATATCACCCTTCTGATAATTATCTTAAGGAAATCATCAGATGTGGACGTAGACATTAAAAGGTTGCTCATCACAGTAATATTTAACAAACCGGAAATTAACCTTAGTGTCCAGCCACATGGAATTGATTAAATAAGTTGTGACATGCTCATAGGATGGAATGTTATACAAACATTTAAAATATTT... | AGGAGACACTTCTTTCAGTGTTTAATGCCAACTCTGGGAAGCTGTTGTGGGAGTGTAAACTGGGAGAAACTTTCTGGAAAGCAGTTTGGCAATCTGTATCAAGAGCCTTAAGAACTCATACTTTTTAACTCAGAAATATCACCCTTCTGATAATTATCTTAAGGAAATCATCAGATGTGGACGTAGACATTAAAAGGTTGCTCATCACAGTAATATTTAACAAACCGGAAATTAACCTTAGTGTCCAGCCACATGGAATTGATTAAATAAGTTGTGACATGCTCATAGGATGGAATGTTATACAAACATTTAAAATATTT... |
Task1_train_16018 | This sequence variant lies in PYGM (glycogen phosphorylase, muscle associated) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Glycogen storage disease | CAACTCTGGGAAGCTGTTGTGGGAGTGTAAACTGGGAGAAACTTTCTGGAAAGCAGTTTGGCAATCTGTATCAAGAGCCTTAAGAACTCATACTTTTTAACTCAGAAATATCACCCTTCTGATAATTATCTTAAGGAAATCATCAGATGTGGACGTAGACATTAAAAGGTTGCTCATCACAGTAATATTTAACAAACCGGAAATTAACCTTAGTGTCCAGCCACATGGAATTGATTAAATAAGTTGTGACATGCTCATAGGATGGAATGTTATACAAACATTTAAAATATTTTTGAAGACTAATAACATGGAAAATCTCT... | CAACTCTGGGAAGCTGTTGTGGGAGTGTAAACTGGGAGAAACTTTCTGGAAAGCAGTTTGGCAATCTGTATCAAGAGCCTTAAGAACTCATACTTTTTAACTCAGAAATATCACCCTTCTGATAATTATCTTAAGGAAATCATCAGATGTGGACGTAGACATTAAAAGGTTGCTCATCACAGTAATATTTAACAAACCGGAAATTAACCTTAGTGTCCAGCCACATGGAATTGATTAAATAAGTTGTGACATGCTCATAGGATGGAATGTTATACAAACATTTAAAATATTTTTGAAGACTAATAACATGGAAAATCTCT... |
Task1_train_16019 | Chromosome 11 houses a mutation in gene PYGM (glycogen phosphorylase, muscle associated). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Glycogen storage disease, type V | CAACTCTGGGAAGCTGTTGTGGGAGTGTAAACTGGGAGAAACTTTCTGGAAAGCAGTTTGGCAATCTGTATCAAGAGCCTTAAGAACTCATACTTTTTAACTCAGAAATATCACCCTTCTGATAATTATCTTAAGGAAATCATCAGATGTGGACGTAGACATTAAAAGGTTGCTCATCACAGTAATATTTAACAAACCGGAAATTAACCTTAGTGTCCAGCCACATGGAATTGATTAAATAAGTTGTGACATGCTCATAGGATGGAATGTTATACAAACATTTAAAATATTTTTGAAGACTAATAACATGGAAAATCTCT... | CAACTCTGGGAAGCTGTTGTGGGAGTGTAAACTGGGAGAAACTTTCTGGAAAGCAGTTTGGCAATCTGTATCAAGAGCCTTAAGAACTCATACTTTTTAACTCAGAAATATCACCCTTCTGATAATTATCTTAAGGAAATCATCAGATGTGGACGTAGACATTAAAAGGTTGCTCATCACAGTAATATTTAACAAACCGGAAATTAACCTTAGTGTCCAGCCACATGGAATTGATTAAATAAGTTGTGACATGCTCATAGGATGGAATGTTATACAAACATTTAAAATATTTTTGAAGACTAATAACATGGAAAATCTCT... |
Task1_train_16020 | A variant was discovered in gene PYGM (glycogen phosphorylase, muscle associated), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Glycogen storage disease, type V | TAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACTGCGCCTGGCCTCCTCATGGTTTAAGCATTGCCCTCTCCAGATTCTTCTTTCAAGTACAAGTATCCCAGGAAGAGACGACTGATACCTCTTCCTGAGACTGAACTAGTCAGAGCCTCCCTAGGGTCCCTGTTGGCAGCACCCACCTTTCTCGGCCAGTGAGACTCGGTAGTTCTCCAGGAAGATGACACGGAGGCGGTCACCCACTGCCGGGT... | TAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACTGCGCCTGGCCTCCTCATGGTTTAAGCATTGCCCTCTCCAGATTCTTCTTTCAAGTACAAGTATCCCAGGAAGAGACGACTGATACCTCTTCCTGAGACTGAACTAGTCAGAGCCTCCCTAGGGTCCCTGTTGGCAGCACCCACCTTTCTCGGCCAGTGAGACTCGGTAGTTCTCCAGGAAGATGACACGGAGGCGGTCACCCACTGCCGGGT... |
Task1_train_16021 | The variant affects gene PYGM (glycogen phosphorylase, muscle associated), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Glycogen storage disease, type V | GGGGGAGCACTGAGAGACAGGGTAGAGTGGCTGCCACTCACGGTTGTACAGGGTGATGACATGGAGGCAGTTGAGGAGCTGTCGTTTATATTCGTGAATCCGCTTCACCTGGATGTCGAAGAGTGAGTTGGGGTTGATGTGGACTTTGTATTCCCTCTCTAGGTAGGCAGCAAACTTCAACTTGTTTTCCTGGAGGCAGAGACGGGGAAGGGCTCACCAACAGGCCACAGCCTCAGGAAATCCTACAGTCCACACTCCAGTCAGCCCCAGGAGGATGGCTACCAGGAGGCTCACTGGCTACTTCTGTCCACTCCTGTACC... | GGGGGAGCACTGAGAGACAGGGTAGAGTGGCTGCCACTCACGGTTGTACAGGGTGATGACATGGAGGCAGTTGAGGAGCTGTCGTTTATATTCGTGAATCCGCTTCACCTGGATGTCGAAGAGTGAGTTGGGGTTGATGTGGACTTTGTATTCCCTCTCTAGGTAGGCAGCAAACTTCAACTTGTTTTCCTGGAGGCAGAGACGGGGAAGGGCTCACCAACAGGCCACAGCCTCAGGAAATCCTACAGTCCACACTCCAGTCAGCCCCAGGAGGATGGCTACCAGGAGGCTCACTGGCTACTTCTGTCCACTCCTGTACC... |
Task1_train_16022 | This sequence change occurs on Chromosome 11, altering PYGM (glycogen phosphorylase, muscle associated). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Glycogen storage disease, type V | GCCTGGGCAGACGGTGGTGAGGAAAATGGAAGGAGGCAGGTGATAAGCCCGGAACCCAGGAGGGGCTCTGTTGGCGACCACTCTGCAGCAATGGGGGCTGGGCTGGCCAGCCTGGCCTGAGCAAAAGCTAGAGGACACTGTGGACTCATGAGAGGGCTGGGGGAACCCAGGGCCAGGCTGAAGGGGTCACAGAGGTCAAGTCCATCCAAAGGTCTCATCTCTGGTTGACCACAGGGCTAATTCACGGTGACTAATTCTGCCCCGCCTTCCATAACTAGCAAACATCAATAATTGTCTGCTACCACGGTGCCAGGGGTACA... | GCCTGGGCAGACGGTGGTGAGGAAAATGGAAGGAGGCAGGTGATAAGCCCGGAACCCAGGAGGGGCTCTGTTGGCGACCACTCTGCAGCAATGGGGGCTGGGCTGGCCAGCCTGGCCTGAGCAAAAGCTAGAGGACACTGTGGACTCATGAGAGGGCTGGGGGAACCCAGGGCCAGGCTGAAGGGGTCACAGAGGTCAAGTCCATCCAAAGGTCTCATCTCTGGTTGACCACAGGGCTAATTCACGGTGACTAATTCTGCCCCGCCTTCCATAACTAGCAAACATCAATAATTGTCTGCTACCACGGTGCCAGGGGTACA... |
Task1_train_16023 | Gene PYGM (glycogen phosphorylase, muscle associated), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Glycogen storage disease, type V | TTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATATTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGTCACCACGCCCGGCCTAAACTGGGATTTGTACACCTGGTTTGGTTTTAAGGTTTTCAGTTTTTGGTCTTTTTGCTTTTTGAAACAGTCTCACTCTGTCACACAGGCTGGCTGGAGTGCAGTTGTACAATCATAGCTCACTGCAGCCTTTAAATCCTGGACTCAAGTGATCCTCCCACTGAAGCCTCAGAGTAGCTGGGACTA... | TTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATATTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGTCACCACGCCCGGCCTAAACTGGGATTTGTACACCTGGTTTGGTTTTAAGGTTTTCAGTTTTTGGTCTTTTTGCTTTTTGAAACAGTCTCACTCTGTCACACAGGCTGGCTGGAGTGCAGTTGTACAATCATAGCTCACTGCAGCCTTTAAATCCTGGACTCAAGTGATCCTCCCACTGAAGCCTCAGAGTAGCTGGGACTA... |
Task1_train_16024 | Given a variant located on Chromosome 11 and affecting PYGM (glycogen phosphorylase, muscle associated), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Glycogen storage disease, type V | ACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCCCCTGGTCTGCTGGGCTATCGAGTGGGACACGGACCACCTGTTTCAGGGGCACCAGCTGGCTTTGGGTCGGGGGGTGGGGAGCAGCAAGGATGCTTTCCACAGAGCTTGCGGGGCTGTTTCGGACC... | ACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCCCCTGGTCTGCTGGGCTATCGAGTGGGACACGGACCACCTGTTTCAGGGGCACCAGCTGGCTTTGGGTCGGGGGGTGGGGAGCAGCAAGGATGCTTTCCACAGAGCTTGCGGGGCTGTTTCGGACC... |
Task1_train_16025 | A variant was discovered in gene PYGM (glycogen phosphorylase, muscle associated), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Glycogen storage disease, type V | ACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCCCCTGGTCTGCTGGGCTATCGAGTGGGACACGGACCACCTGTTTCAGGGGCACCAGCTGGCTTTGGGTCGGGGGGTGGGGAGCAGCAAGGATGCTTTCCACAGAGCTTGCGGGGCTGTTTCGGACC... | ACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCCCCTGGTCTGCTGGGCTATCGAGTGGGACACGGACCACCTGTTTCAGGGGCACCAGCTGGCTTTGGGTCGGGGGGTGGGGAGCAGCAAGGATGCTTTCCACAGAGCTTGCGGGGCTGTTTCGGACC... |
Task1_train_16026 | A genomic change on Chromosome 11 affects MEN1 (menin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Adrenocortical adenoma | GATCCACAAGCGGTCATTCCTAGGGACAAAGAGCTGGGGTGGGCACAAAGCAGGTCACATGGGGGCTGCCTGGGGCCAGGAGGATAAGGCAGCCTCACCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCAC... | GATCCACAAGCGGTCATTCCTAGGGACAAAGAGCTGGGGTGGGCACAAAGCAGGTCACATGGGGGCTGCCTGGGGCCAGGAGGATAAGGCAGCCTCACCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCAC... |
Task1_train_16027 | The gene MEN1 (menin 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Multiple endocrine neoplasia, type 1 | GCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAA... | GCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAA... |
Task1_train_16028 | Mutation context: Chromosome 11, Gene MEN1 (menin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | GCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAA... | GCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAA... |
Task1_train_16029 | Consider a variant on Chromosome 11 in gene MEN1 (menin 1). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary cancer-predisposing syndrome | GCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAA... | GCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAA... |
Task1_train_16030 | This gene mutation involves MEN1 (menin 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Multiple endocrine neoplasia, type 1 | GCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAA... | GCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAA... |
Task1_train_16031 | A variant on Chromosome 11 in gene MEN1 (menin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary cancer-predisposing syndrome | CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCT... | CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCT... |
Task1_train_16032 | This genomic variant is located on Chromosome 11, within the MEN1 (menin 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Multiple endocrine neoplasia, type 1 | CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCT... | CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCT... |
Task1_train_16033 | This gene mutation involves MEN1 (menin 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCT... | CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCT... |
Task1_train_16034 | A variant affecting Chromosome 11, within the gene MEN1 (menin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Multiple endocrine neoplasia, type 1 | CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCT... | CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCT... |
Task1_train_16035 | The gene MEN1 (menin 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hereditary cancer-predisposing syndrome | CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCT... | CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCT... |
Task1_train_16036 | A change on Chromosome 11 affects gene MEN1 (menin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Multiple endocrine neoplasia, type 1 | AGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCC... | AGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCC... |
Task1_train_16037 | This variant affects gene MEN1 (menin 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Multiple endocrine neoplasia, type 1 | GGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTG... | GGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTG... |
Task1_train_16038 | An alteration has been detected in MEN1 (menin 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary cancer-predisposing syndrome | GGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATG... | GGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATG... |
Task1_train_16039 | This variant lies on Chromosome 11 and affects the gene MEN1 (menin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Multiple endocrine neoplasia, type 1 | GGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATG... | GGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATG... |
Task1_train_16040 | The gene MEN1 (menin 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Multiple endocrine neoplasia, type 1 | GAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTG... | GAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTG... |
Task1_train_16041 | A genomic change on Chromosome 11 affects MEN1 (menin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | TCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAA... | TCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAA... |
Task1_train_16042 | A variant was discovered in gene MEN1 (menin 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Multiple endocrine neoplasia, type 1 | TCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAA... | TCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAA... |
Task1_train_16043 | This variant affects gene MEN1 (menin 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Multiple endocrine neoplasia, type 1 | GGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGA... | GGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGA... |
Task1_train_16044 | Consider a variant on Chromosome 11 in gene MEN1 (menin 1). Determine its clinical classification and disease relevance. | Pathogenic; Multiple endocrine neoplasia, type 1 | CTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGAT... | CTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGAT... |
Task1_train_16045 | The gene MEN1 (menin 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Multiple endocrine neoplasia, type 1 | AGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGT... | AGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGT... |
Task1_train_16046 | This sequence variant lies in MEN1 (menin 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary cancer-predisposing syndrome | AGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGT... | AGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGT... |
Task1_train_16047 | This variant affects gene MEN1 (menin 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary cancer-predisposing syndrome | AGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGG... | AGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGG... |
Task1_train_16048 | This alteration in MEN1 (menin 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Multiple endocrine neoplasia, type 1 | AGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGG... | AGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGG... |
Task1_train_16049 | A variant has been detected on Chromosome 11 in MEN1 (menin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Multiple endocrine neoplasia, type 1 | CATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCT... | CATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCT... |
Task1_train_16050 | Given this variant in gene MEN1 (menin 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Multiple endocrine neoplasia, type 1 | TGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGC... | TGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGC... |
Task1_train_16051 | Mutation context: Chromosome 11, Gene MEN1 (menin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Multiple endocrine neoplasia, type 1 | AAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATC... | AAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATC... |
Task1_train_16052 | A genetic alteration is present in MEN1 (menin 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary cancer-predisposing syndrome | AAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATC... | AAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATC... |
Task1_train_16053 | A variant was discovered on Chromosome 11, affecting MEN1 (menin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Multiple endocrine neoplasia, type 1 | AGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTG... | AGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTG... |
Task1_train_16054 | This variant impacts the gene MEN1 (menin 1) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hereditary cancer-predisposing syndrome | CAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGC... | CAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGC... |
Task1_train_16055 | A genetic alteration is present in MEN1 (menin 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Multiple endocrine neoplasia, type 1 | CAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGC... | CAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGC... |
Task1_train_16056 | This variant affects gene MEN1 (menin 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Multiple endocrine neoplasia, type 1 | AGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCT... | AGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCT... |
Task1_train_16057 | This gene mutation involves MEN1 (menin 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | AGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCT... | AGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCT... |
Task1_train_16058 | This variant impacts the gene MEN1 (menin 1) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Multiple endocrine neoplasia, type 1 | AGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCT... | AGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCT... |
Task1_train_16059 | This alteration occurs within gene MEN1 (menin 1) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Hereditary cancer-predisposing syndrome | CGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCC... | CGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCC... |
Task1_train_16060 | This gene mutation involves MEN1 (menin 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Multiple endocrine neoplasia, type 1 | CGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCC... | CGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCC... |
Task1_train_16061 | The gene MEN1 (menin 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Multiple endocrine neoplasia, type 1 | GGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCT... | GGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCT... |
Task1_train_16062 | This sequence variant lies in MEN1 (menin 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary cancer-predisposing syndrome | GGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCT... | GGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCT... |
Task1_train_16063 | Mutation context: Chromosome 11, Gene MEN1 (menin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Multiple endocrine neoplasia, type 1 | GGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCT... | GGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCT... |
Task1_train_16064 | This sequence variant lies in MEN1 (menin 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Multiple endocrine neoplasia, type 1 | TTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCC... | TTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCC... |
Task1_train_16065 | Here is a genetic alteration in MEN1 (menin 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hereditary cancer-predisposing syndrome | ACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATAT... | ACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATAT... |
Task1_train_16066 | Gene MEN1 (menin 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hereditary cancer-predisposing syndrome | ACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATAT... | ACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATAT... |
Task1_train_16067 | Gene MEN1 (menin 1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Multiple endocrine neoplasia, type 1 | ACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATAT... | ACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATAT... |
Task1_train_16068 | A mutation in MEN1 (menin 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Multiple endocrine neoplasia, type 1 | CCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATT... | CCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATT... |
Task1_train_16069 | This variant affects the gene MEN1 (menin 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | CCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATT... | CCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATT... |
Task1_train_16070 | A variant was discovered on Chromosome 11, affecting MEN1 (menin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Multiple endocrine neoplasia, type 1 | CCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATT... | CCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATT... |
Task1_train_16071 | This is a variant in MEN1 (menin 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary cancer-predisposing syndrome | CCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATT... | CCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATT... |
Task1_train_16072 | This sequence change occurs on Chromosome 11, altering ARL2, ARL2-SNX15, LOC130005983 (ARF like GTPase 2| ARL2-SNX15 readthrough (NMD candidate)| ATAC-STARR-seq lymphoblastoid silent region 3504). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 | TTGAAGTGAGCATGTCTGGCTAATTTTTGTATTTTTTATAGAGATGGGAGTCTCCCTAAGTTGGCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTCACCTCTGCCTTCCAAAGTGCTGGGATTAGACATGAGCCACTGCGCCTGGCCCACTTCACTGTTTTAAGGGCTTCATGAATTCACATGCACCTACCCCGGCTCAGGTAACCTGCCCTCACTGGAGGCACTTAGGTTTTTTCCAATTTCTTGCTGTTCCAAACCATGCCACAGTGAACTTCGTTGTTCCTGTGCAGTGCCAGAATGTCTGTGGTGCAG... | TTGAAGTGAGCATGTCTGGCTAATTTTTGTATTTTTTATAGAGATGGGAGTCTCCCTAAGTTGGCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTCACCTCTGCCTTCCAAAGTGCTGGGATTAGACATGAGCCACTGCGCCTGGCCCACTTCACTGTTTTAAGGGCTTCATGAATTCACATGCACCTACCCCGGCTCAGGTAACCTGCCCTCACTGGAGGCACTTAGGTTTTTTCCAATTTCTTGCTGTTCCAAACCATGCCACAGTGAACTTCGTTGTTCCTGTGCAGTGCCAGAATGTCTGTGGTGCAG... |
Task1_train_16073 | This alteration occurs within gene VPS51 (VPS51 subunit of GARP complex) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | GAGCAGTTGAGGCACAGTGGTGGCAGCTGGCTAAGCACCTGCGGCCTGCTTCGGATCTGGACTAATTCTGAGGGCCGGCTCTCCTGGGCACCAGGGTTAGGGGGTTACGGGGAGTATGTGAGTAACGCCTGCTTTGGGAACATAAACCCCCTCCCCCGCCCCCATGTGCGCTGTGACCCACGCCCTCGCAGTCCTTTCTCTGGAATCATCCATGCGCCCCTGGAGCAAGCTGGGGCGTCTGTGAAGGGGTGGGTGAGAAGGAGCTGAGGTTGCGCCCGCCCTGCAGTCACCTGCTCTCCCCTTTTCCCCGCCCCTGCCCT... | GAGCAGTTGAGGCACAGTGGTGGCAGCTGGCTAAGCACCTGCGGCCTGCTTCGGATCTGGACTAATTCTGAGGGCCGGCTCTCCTGGGCACCAGGGTTAGGGGGTTACGGGGAGTATGTGAGTAACGCCTGCTTTGGGAACATAAACCCCCTCCCCCGCCCCCATGTGCGCTGTGACCCACGCCCTCGCAGTCCTTTCTCTGGAATCATCCATGCGCCCCTGGAGCAAGCTGGGGCGTCTGTGAAGGGGTGGGTGAGAAGGAGCTGAGGTTGCGCCCGCCCTGCAGTCACCTGCTCTCCCCTTTTCCCCGCCCCTGCCCT... |
Task1_train_16074 | The gene CAPN1 (calpain 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal recessive spastic paraplegia type 76 | GACTCTCCAGCCTTGGAGGCCCCAGCCCTGCCCGAAGGACTCTTGGGTGTTCCCTCCTTCTGCCTGGTTAGAGAGCCCCTTACCCTACTCTGTCCTTGCCCGCCTTGCGCGGGTGGAGGTGGCCCTCGGAACCCAGGGTGCGGAACCCACAGTGCGGATCCACTTTGGCCCAGCGCCACACCCACCTGCTCCAGTCTGCAGGGGCGCAGTCTCGCCCCCTTCCCTCGCTCCTCCAATCCGCTCCTCCCTGGCCTCCGATTGGCCAGTTCAGTACCCGCCACCCACACTCTCCGCAACCTGGGCTCCTAGGGCCGCCTCCA... | GACTCTCCAGCCTTGGAGGCCCCAGCCCTGCCCGAAGGACTCTTGGGTGTTCCCTCCTTCTGCCTGGTTAGAGAGCCCCTTACCCTACTCTGTCCTTGCCCGCCTTGCGCGGGTGGAGGTGGCCCTCGGAACCCAGGGTGCGGAACCCACAGTGCGGATCCACTTTGGCCCAGCGCCACACCCACCTGCTCCAGTCTGCAGGGGCGCAGTCTCGCCCCCTTCCCTCGCTCCTCCAATCCGCTCCTCCCTGGCCTCCGATTGGCCAGTTCAGTACCCGCCACCCACACTCTCCGCAACCTGGGCTCCTAGGGCCGCCTCCA... |
Task1_train_16075 | This alteration occurs within gene CAPN1 (calpain 1) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal recessive spastic paraplegia type 76 | GTCGTGGATGACCTGCTGCCCATCAAGGACGGGAAGCTAGTGTTCGTGCACTCTGCCGAAGGCAACGAGTTCTGGAGCGCCCTGCTTGAGAAGGCCTATGCCAAGTGAGTAGCGGCTGAGGGGGCAACTCCAGCTTCCAGCTCCCCCTAGGGGTGGGGGCTCATGACTGTCTTCTCAGAGGGTCCTGCTTGATGCCAGAGTGCTGACCTGGAGCTGCCCACAGGGTAAATGGCAGCTACGAGGCCCTGTCAGGGGGCAGCACCTCAGAGGGCTTTGAGGACTTCACAGGCGGGGTTACCGAGTGGTACGAGTTGCGCAAG... | GTCGTGGATGACCTGCTGCCCATCAAGGACGGGAAGCTAGTGTTCGTGCACTCTGCCGAAGGCAACGAGTTCTGGAGCGCCCTGCTTGAGAAGGCCTATGCCAAGTGAGTAGCGGCTGAGGGGGCAACTCCAGCTTCCAGCTCCCCCTAGGGGTGGGGGCTCATGACTGTCTTCTCAGAGGGTCCTGCTTGATGCCAGAGTGCTGACCTGGAGCTGCCCACAGGGTAAATGGCAGCTACGAGGCCCTGTCAGGGGGCAGCACCTCAGAGGGCTTTGAGGACTTCACAGGCGGGGTTACCGAGTGGTACGAGTTGCGCAAG... |
Task1_train_16076 | Here is a mutation in CAPN1 (calpain 1) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal recessive spastic paraplegia type 76 | AGTTGTGCAACCATCACCACATCAATTTTAGAACATTTCATTATCCCAAAAACAAATGAGGTACTCCTTAGCCATGACTCCCCAGCCCTCCCAGCAGCCCTGGCAACCACAAATCTACTTCTTATCTCTATGGATTTGCCTACTGGGATATTTCATGTGAACAGGATCATATAATACATGGTCCTTTGTGGCTGGCCTTTTTCATTTAGCATAATGTTTGCAAGGTTCCTCCATGTTGTAGCATGGATCAGAATGTTGTTCCTCTTTGTTGCCAAATAATATCCCATTGTTTGGCTCCATATTTTGTATATTCACTCTTC... | AGTTGTGCAACCATCACCACATCAATTTTAGAACATTTCATTATCCCAAAAACAAATGAGGTACTCCTTAGCCATGACTCCCCAGCCCTCCCAGCAGCCCTGGCAACCACAAATCTACTTCTTATCTCTATGGATTTGCCTACTGGGATATTTCATGTGAACAGGATCATATAATACATGGTCCTTTGTGGCTGGCCTTTTTCATTTAGCATAATGTTTGCAAGGTTCCTCCATGTTGTAGCATGGATCAGAATGTTGTTCCTCTTTGTTGCCAAATAATATCCCATTGTTTGGCTCCATATTTTGTATATTCACTCTTC... |
Task1_train_16077 | The gene CAPN1 (calpain 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | CGTGCACAGGGACGTGCTGAGGAGGCTTGGGGGCCAATTGGCTCTGCCCCGCCCTGCCTCTGATCCCCGCCTCCTCACCTGCCCGCAGCCACCTTCTGGGTGAACCCTCAGTTCAAGATCCGGCTGGATGAGACGGATGACCCGGACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCCGCTTCGGCCGCGACATGGAGACTATTGGCTTCGCGGTCTACGAGGTCAGGAGGGTGGATCACCGGTGGATCTCACTGAGCAGGCAGAGGACCTGGCGCCC... | CGTGCACAGGGACGTGCTGAGGAGGCTTGGGGGCCAATTGGCTCTGCCCCGCCCTGCCTCTGATCCCCGCCTCCTCACCTGCCCGCAGCCACCTTCTGGGTGAACCCTCAGTTCAAGATCCGGCTGGATGAGACGGATGACCCGGACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCCGCTTCGGCCGCGACATGGAGACTATTGGCTTCGCGGTCTACGAGGTCAGGAGGGTGGATCACCGGTGGATCTCACTGAGCAGGCAGAGGACCTGGCGCCC... |
Task1_train_16078 | Here is a variant affecting DPF2 (double PHD fingers 2) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Coffin-Siris syndrome 1 | GTCTAACTCCTCAGGCCCAGCTACCAAAATAAGGGTGTCTCTTTGCTCTTCTTGGCAGGGTAAGGGTGTGGGCAGTGCCCGTAAGAAGCTGGATGCTTCCATCCTGGAGGACCGGGATAAGCCCTATGCCTGTGACAGTGAGTGCCTCACAAGTGGGTGGGTAGACCTTGCCTTGGACCCAGCTCCTGCTCTGGATATGAGAGGAGGGAGGGTTGTGTTTTTGCCCAGAGTATTAAAACAAACCTGGGCTCTTGTCCTGCCTGCTGACTGCTTCCGTCTGAGACCCCTGGGAGGCCTGGGTCCCTGCTATATGACGGGTG... | GTCTAACTCCTCAGGCCCAGCTACCAAAATAAGGGTGTCTCTTTGCTCTTCTTGGCAGGGTAAGGGTGTGGGCAGTGCCCGTAAGAAGCTGGATGCTTCCATCCTGGAGGACCGGGATAAGCCCTATGCCTGTGACAGTGAGTGCCTCACAAGTGGGTGGGTAGACCTTGCCTTGGACCCAGCTCCTGCTCTGGATATGAGAGGAGGGAGGGTTGTGTTTTTGCCCAGAGTATTAAAACAAACCTGGGCTCTTGTCCTGCCTGCTGACTGCTTCCGTCTGAGACCCCTGGGAGGCCTGGGTCCCTGCTATATGACGGGTG... |
Task1_train_16079 | Here is a variant affecting DPF2 (double PHD fingers 2) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Coffin-Siris syndrome 7 | ATCCTCTGGGGTAGGGTTGCTTGTGGGGGCCACAGCAGGCAGGGTTGGCCTCTCAACAGATGGCCTGCAGGTCTCCTGGCCTCAGTTAAGCCAGGGCCCCAGGGGTCTGACACTGAGTTTTTCAACGTCTGTTCTCTTTTTCTTTCTGTCTGCCTTGCCCCACTTCTGTCCCTCCACCCTGGGAGCACCATCGCCGCTGGGGTTTCTCTCTCGTTTGCTCTGCTTTCCTGCTGCTGCTGCTCCTGTCTCAAGTGTATCAAGGCCTTCTTCTCATGACTTTTCTTTCTGTCTTTCAGATAGTTTCAAACAAAAGCATACCT... | ATCCTCTGGGGTAGGGTTGCTTGTGGGGGCCACAGCAGGCAGGGTTGGCCTCTCAACAGATGGCCTGCAGGTCTCCTGGCCTCAGTTAAGCCAGGGCCCCAGGGGTCTGACACTGAGTTTTTCAACGTCTGTTCTCTTTTTCTTTCTGTCTGCCTTGCCCCACTTCTGTCCCTCCACCCTGGGAGCACCATCGCCGCTGGGGTTTCTCTCTCGTTTGCTCTGCTTTCCTGCTGCTGCTGCTCCTGTCTCAAGTGTATCAAGGCCTTCTTCTCATGACTTTTCTTTCTGTCTTTCAGATAGTTTCAAACAAAAGCATACCT... |
Task1_train_16080 | The variant affects gene DPF2 (double PHD fingers 2), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Coffin-Siris syndrome 7 | AGGAAAGGAGCAGCCAGCGCCAAGGCCTTATGTTGGACAAGCCAGATGACAGGGCATGGGAGAGTATGGTGGGCAATGAGATGAGAGAGGCAAGCACTGCCAGATCTCTGGGGCCTCGGGTTTTATTCTAGGTACAACAGGACACTGTTGAAGGGTTTTACTCGGGAAGTGACATGGTTATTTATGTATTTATTTATTTACTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCA... | AGGAAAGGAGCAGCCAGCGCCAAGGCCTTATGTTGGACAAGCCAGATGACAGGGCATGGGAGAGTATGGTGGGCAATGAGATGAGAGAGGCAAGCACTGCCAGATCTCTGGGGCCTCGGGTTTTATTCTAGGTACAACAGGACACTGTTGAAGGGTTTTACTCGGGAAGTGACATGGTTATTTATGTATTTATTTATTTACTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCA... |
Task1_train_16081 | A sequence alteration has been identified in DPF2 (double PHD fingers 2) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; not provided | AGCAGCCAGCGCCAAGGCCTTATGTTGGACAAGCCAGATGACAGGGCATGGGAGAGTATGGTGGGCAATGAGATGAGAGAGGCAAGCACTGCCAGATCTCTGGGGCCTCGGGTTTTATTCTAGGTACAACAGGACACTGTTGAAGGGTTTTACTCGGGAAGTGACATGGTTATTTATGTATTTATTTATTTACTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTG... | AGCAGCCAGCGCCAAGGCCTTATGTTGGACAAGCCAGATGACAGGGCATGGGAGAGTATGGTGGGCAATGAGATGAGAGAGGCAAGCACTGCCAGATCTCTGGGGCCTCGGGTTTTATTCTAGGTACAACAGGACACTGTTGAAGGGTTTTACTCGGGAAGTGACATGGTTATTTATGTATTTATTTATTTACTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTG... |
Task1_train_16082 | Here is a variant affecting DPF2 (double PHD fingers 2) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Coffin-Siris syndrome 7 | ATGTTGGACAAGCCAGATGACAGGGCATGGGAGAGTATGGTGGGCAATGAGATGAGAGAGGCAAGCACTGCCAGATCTCTGGGGCCTCGGGTTTTATTCTAGGTACAACAGGACACTGTTGAAGGGTTTTACTCGGGAAGTGACATGGTTATTTATGTATTTATTTATTTACTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACACGTGCCACC... | ATGTTGGACAAGCCAGATGACAGGGCATGGGAGAGTATGGTGGGCAATGAGATGAGAGAGGCAAGCACTGCCAGATCTCTGGGGCCTCGGGTTTTATTCTAGGTACAACAGGACACTGTTGAAGGGTTTTACTCGGGAAGTGACATGGTTATTTATGTATTTATTTATTTACTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACACGTGCCACC... |
Task1_train_16083 | The gene SCYL1 (SCY1 like pseudokinase 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; CALFAN syndrome | AATGAGGGGCTGAACCGTGATTGAAACCCAGCACCGTCTCACTGTGGCATCTCTGCCCTTGAGTTATCTCCCAAAGGCATCCCAACCAGACTTTTCATAACCAGTCCCAGAATCTCACCAGTGCTCCATAGCTGTGGTTGAGGCACTGTCCCCAAGCCTGGGTCCTGAGACCCTACCAGCAGAAGAACCACTGCCTGTCCAGCCCCTCCTACACAGCTCAGGGGCTGGATCCCCACCAGTGTGATGTGCTGATTGAGCTAACACCACTCCATGGCTGTCTACACAGGCACTGAGAGATGCAATCCGTTGGCTTGAGAGCC... | AATGAGGGGCTGAACCGTGATTGAAACCCAGCACCGTCTCACTGTGGCATCTCTGCCCTTGAGTTATCTCCCAAAGGCATCCCAACCAGACTTTTCATAACCAGTCCCAGAATCTCACCAGTGCTCCATAGCTGTGGTTGAGGCACTGTCCCCAAGCCTGGGTCCTGAGACCCTACCAGCAGAAGAACCACTGCCTGTCCAGCCCCTCCTACACAGCTCAGGGGCTGGATCCCCACCAGTGTGATGTGCTGATTGAGCTAACACCACTCCATGGCTGTCTACACAGGCACTGAGAGATGCAATCCGTTGGCTTGAGAGCC... |
Task1_train_16084 | The gene SCYL1 (SCY1 like pseudokinase 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | AATGAGGGGCTGAACCGTGATTGAAACCCAGCACCGTCTCACTGTGGCATCTCTGCCCTTGAGTTATCTCCCAAAGGCATCCCAACCAGACTTTTCATAACCAGTCCCAGAATCTCACCAGTGCTCCATAGCTGTGGTTGAGGCACTGTCCCCAAGCCTGGGTCCTGAGACCCTACCAGCAGAAGAACCACTGCCTGTCCAGCCCCTCCTACACAGCTCAGGGGCTGGATCCCCACCAGTGTGATGTGCTGATTGAGCTAACACCACTCCATGGCTGTCTACACAGGCACTGAGAGATGCAATCCGTTGGCTTGAGAGCC... | AATGAGGGGCTGAACCGTGATTGAAACCCAGCACCGTCTCACTGTGGCATCTCTGCCCTTGAGTTATCTCCCAAAGGCATCCCAACCAGACTTTTCATAACCAGTCCCAGAATCTCACCAGTGCTCCATAGCTGTGGTTGAGGCACTGTCCCCAAGCCTGGGTCCTGAGACCCTACCAGCAGAAGAACCACTGCCTGTCCAGCCCCTCCTACACAGCTCAGGGGCTGGATCCCCACCAGTGTGATGTGCTGATTGAGCTAACACCACTCCATGGCTGTCTACACAGGCACTGAGAGATGCAATCCGTTGGCTTGAGAGCC... |
Task1_train_16085 | This sequence change occurs on Chromosome 11, altering SCYL1 (SCY1 like pseudokinase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; CALFAN syndrome | TGGGCCCGGTTGCTCACACCTGTAATCCCAGACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGGCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAACAATCTAGCCGGGCATGGTGGTGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTCGGAGATGGAGCTTGCAGTGAGCCGATATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAATAAAATAAAATAAAAATTAAAAAAATTAGCCAG... | TGGGCCCGGTTGCTCACACCTGTAATCCCAGACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGGCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAACAATCTAGCCGGGCATGGTGGTGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTCGGAGATGGAGCTTGCAGTGAGCCGATATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAATAAAATAAAATAAAAATTAAAAAAATTAGCCAG... |
Task1_train_16086 | Here is a mutation in SCYL1 (SCY1 like pseudokinase 1) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | TGGGCCCGGTTGCTCACACCTGTAATCCCAGACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGGCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAACAATCTAGCCGGGCATGGTGGTGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTCGGAGATGGAGCTTGCAGTGAGCCGATATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAATAAAATAAAATAAAAATTAAAAAAATTAGCCAG... | TGGGCCCGGTTGCTCACACCTGTAATCCCAGACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGGCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAACAATCTAGCCGGGCATGGTGGTGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTCGGAGATGGAGCTTGCAGTGAGCCGATATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAATAAAATAAAATAAAAATTAAAAAAATTAGCCAG... |
Task1_train_16087 | A variant was discovered on Chromosome 11, affecting LTBP3 (latent transforming growth factor beta binding protein 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Geleophysic dysplasia 3 | CCATTCCCAGTGAGCAGCACTACCCCCTCACTCACCCAAACTGGAAACGGGGAGGGGTCGTTATCACCCTCGCTTTCACTTGACATCCAGTTAAAAAACCCAGGAGGTCTAATATTTCTCCAATATCATCGTCTCATGGCCATCCTGAGCCCACCACTCATCCTGTCCACCACTGTCTCCGCCCTAAGTCTCTGCAACAGACCTCCCTCCACAATCAGCAGCAGGGAACGTTCTAAAACAAATGGCAAATCTTGTCACTCTTACACTTAAAATGCTGCAGGTGCCCTCTAACACCTTCTGGGTGAAGCACAACCTCCCAG... | CCATTCCCAGTGAGCAGCACTACCCCCTCACTCACCCAAACTGGAAACGGGGAGGGGTCGTTATCACCCTCGCTTTCACTTGACATCCAGTTAAAAAACCCAGGAGGTCTAATATTTCTCCAATATCATCGTCTCATGGCCATCCTGAGCCCACCACTCATCCTGTCCACCACTGTCTCCGCCCTAAGTCTCTGCAACAGACCTCCCTCCACAATCAGCAGCAGGGAACGTTCTAAAACAAATGGCAAATCTTGTCACTCTTACACTTAAAATGCTGCAGGTGCCCTCTAACACCTTCTGGGTGAAGCACAACCTCCCAG... |
Task1_train_16088 | With a mutation on Chromosome 11 in gene KAT5 (lysine acetyltransferase 5), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | TCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCAGCCGTTTTGTCCCATTATTTTAGATGCCAAGAACCTGTACACCCTCCACCGGTGACACCTTCACAGTTTTGAGGAGTATTCATGGGGTATTTTGTAAAATGTTTCTCAATTGGGATTTGTCTGATG... | TCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCAGCCGTTTTGTCCCATTATTTTAGATGCCAAGAACCTGTACACCCTCCACCGGTGACACCTTCACAGTTTTGAGGAGTATTCATGGGGTATTTTGTAAAATGTTTCTCAATTGGGATTTGTCTGATG... |
Task1_train_16089 | The gene KAT5 (lysine acetyltransferase 5), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | CATCTCCTTCTTTGAGATTGATGGACGTAAGAACAAGGTTAGTGCTTGAGAGGCAGTGAGGCGCTGGGGTGAATCAAATGACAGCTTCTTCTTGCTCAGGTAAACACTGACCAGTCAAGCCAGCAGATCAGTCCAGCCCATTTTTATTGAGTTCCTGCTGTCTGGCAGGTGCTGGTAGCCAGGAATGAGACAGTCTCTGTTCTCTGACAGCTTAGTCCATGGGAGAGACAGTCATACCAATGACCTCTAGCTCCCAGTGTCCTAAGTGTCATGAAACAGAGGGTAGGTTAGCAGGACCCAAAGGAGGTGGTCAGCAGAGC... | CATCTCCTTCTTTGAGATTGATGGACGTAAGAACAAGGTTAGTGCTTGAGAGGCAGTGAGGCGCTGGGGTGAATCAAATGACAGCTTCTTCTTGCTCAGGTAAACACTGACCAGTCAAGCCAGCAGATCAGTCCAGCCCATTTTTATTGAGTTCCTGCTGTCTGGCAGGTGCTGGTAGCCAGGAATGAGACAGTCTCTGTTCTCTGACAGCTTAGTCCATGGGAGAGACAGTCATACCAATGACCTCTAGCTCCCAGTGTCCTAAGTGTCATGAAACAGAGGGTAGGTTAGCAGGACCCAAAGGAGGTGGTCAGCAGAGC... |
Task1_train_16090 | A sequence alteration has been identified in KAT5, RNASEH2C (lysine acetyltransferase 5| ribonuclease H2 subunit C) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | TGGCCAGGCTCAAGGCGGGATACCCAGAGTGGTGACAAGCCTTTTCTCTTGCAGAGTTATTCCCAGAACCTGTGTCTTTTGGCCAAGTGTTTCCTTGACCATAAGACACTGTACTATGACACAGACCCTTTCCTCTTCTACGTCATGACAGAGTATGACTGTAAGGGCTTCCACATCGTGGGCTACTTCTCCAAGGTCAGTGCCTGCCCAAGCTGTCCCTGTGCCCTGTCCTGAGCCAGATCCCTTCCCTGACACTCACCTGTCCCCCTTCTCCAGGAGAAAGAATCAACGGAAGACTACAATGTGGCCTGCATCCTAAC... | TGGCCAGGCTCAAGGCGGGATACCCAGAGTGGTGACAAGCCTTTTCTCTTGCAGAGTTATTCCCAGAACCTGTGTCTTTTGGCCAAGTGTTTCCTTGACCATAAGACACTGTACTATGACACAGACCCTTTCCTCTTCTACGTCATGACAGAGTATGACTGTAAGGGCTTCCACATCGTGGGCTACTTCTCCAAGGTCAGTGCCTGCCCAAGCTGTCCCTGTGCCCTGTCCTGAGCCAGATCCCTTCCCTGACACTCACCTGTCCCCCTTCTCCAGGAGAAAGAATCAACGGAAGACTACAATGTGGCCTGCATCCTAAC... |
Task1_train_16091 | This variant lies on Chromosome 11 and affects the gene RNASEH2C (ribonuclease H2 subunit C). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Aicardi-Goutieres syndrome 3 | TGGCTCCCAGGAATGGTCTCCCCGACTTAGGAAGCACCTTGGTGCACCTTTTCTCCTTGCATCCTCACAACCACCCAGTCAGGCCACTCAAGTCTTACAGCAGGTGACACTCCCAAGGTCCCAGCTAGGAGGACTTTGAGAATTCAAGCATTCTCAGGTCTGGATTAGAGACAGGAATCTGTCTCCACTTCCTTACATGGCTAGACACAGAGCCCGGGATGGCAAAGGAAAATTGGAGGCCCCTTCTTCCCATGAGCCATTTTCTCTGCATCCCCTGCCCATAAGCCTTCACTGGCCTCTGATCACCCTCATGGTTGACT... | TGGCTCCCAGGAATGGTCTCCCCGACTTAGGAAGCACCTTGGTGCACCTTTTCTCCTTGCATCCTCACAACCACCCAGTCAGGCCACTCAAGTCTTACAGCAGGTGACACTCCCAAGGTCCCAGCTAGGAGGACTTTGAGAATTCAAGCATTCTCAGGTCTGGATTAGAGACAGGAATCTGTCTCCACTTCCTTACATGGCTAGACACAGAGCCCGGGATGGCAAAGGAAAATTGGAGGCCCCTTCTTCCCATGAGCCATTTTCTCTGCATCCCCTGCCCATAAGCCTTCACTGGCCTCTGATCACCCTCATGGTTGACT... |
Task1_train_16092 | A variant was discovered on Chromosome 11, affecting EFEMP2, MUS81 (EGF containing fibulin extracellular matrix protein 2| MUS81 structure-specific endonuclease subunit). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cutis laxa, autosomal recessive, type 1B | TCAGGGCCACACCCTACGCAGCCGCCCCTGGGGAACCCCTGGGAACCCTGAATCAGGGGCCATGACCTCTCCAAACCCTCTCTGCTCACTCCTCACCTTCAGTGACTTCAACGCAGGAGCCATCAAGAATAAGGTACTGTCTCTGCCTAGCTTCTCAGACATGGCCTGGCCCAGACCCCCACTGATCCAGCCCTTTCCCGAACCCAGGCCCAGTCGGTGCGAGAAGTGTTTGCCCGGCAGCTGATGCAGGTGCGCGGAGTGAGTGGGGAGAAGGCAGCAGCCCTGGTGGATCGATACAGCACCCCTGCCAGGTAGGCCCT... | TCAGGGCCACACCCTACGCAGCCGCCCCTGGGGAACCCCTGGGAACCCTGAATCAGGGGCCATGACCTCTCCAAACCCTCTCTGCTCACTCCTCACCTTCAGTGACTTCAACGCAGGAGCCATCAAGAATAAGGTACTGTCTCTGCCTAGCTTCTCAGACATGGCCTGGCCCAGACCCCCACTGATCCAGCCCTTTCCCGAACCCAGGCCCAGTCGGTGCGAGAAGTGTTTGCCCGGCAGCTGATGCAGGTGCGCGGAGTGAGTGGGGAGAAGGCAGCAGCCCTGGTGGATCGATACAGCACCCCTGCCAGGTAGGCCCT... |
Task1_train_16093 | A variant has been detected on Chromosome 11 in EFEMP2 (EGF containing fibulin extracellular matrix protein 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Cutis laxa, autosomal recessive, type 1B | CAGTTTGAGGCAGAGTTAGGAATGGAACCCAGGGCCTCCTGGCGCTGTCCAGAGTGGAGTTTCTTAGGACCCCTGCAAGCCAGCCAAGTCCAAATCTCTGGGCCGGGGCCTGGAGTCCGCCCTCCTCGTTACCTCCTCTCCTCTCGGGGTGACTGAAGCTCGTGGTGCAGAGCTCCCAGCTCCTGTCAATGGGGGCCCCTGGGCCTGAACATATAGAGACCCCCATTTAGGTGAACTTGGCCTGCCCCCCCAAGTGCCACCCTGCCCCAGCCTGAGGCTTCCTGCAGTGTGACCCGCCCACCTCAGCCACCAGGACTTTC... | CAGTTTGAGGCAGAGTTAGGAATGGAACCCAGGGCCTCCTGGCGCTGTCCAGAGTGGAGTTTCTTAGGACCCCTGCAAGCCAGCCAAGTCCAAATCTCTGGGCCGGGGCCTGGAGTCCGCCCTCCTCGTTACCTCCTCTCCTCTCGGGGTGACTGAAGCTCGTGGTGCAGAGCTCCCAGCTCCTGTCAATGGGGGCCCCTGGGCCTGAACATATAGAGACCCCCATTTAGGTGAACTTGGCCTGCCCCCCCAAGTGCCACCCTGCCCCAGCCTGAGGCTTCCTGCAGTGTGACCCGCCCACCTCAGCCACCAGGACTTTC... |
Task1_train_16094 | A mutation in EFEMP2 (EGF containing fibulin extracellular matrix protein 2), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cutis laxa, autosomal recessive, type 1B | TTACCCTAATGTAAAAGTCCCCCTGCGAGTTTCCAGCACGGATCTGAAAGGCATTGTAGGCACCGGGGTAGACGGAGGTCGCCTGGATCTGGAACACGTCAGCGGGCACGCTCCGCTCCGAGGTGATGGTCATGTAGCGGTGCACAATGGATGAAGGCTGCTCTCGACATAGAGGGTTGGAGGCCGGGCAGAGACAGCGGCTAGAGACCCCGAGGTGGGGGACACAAATGAGCTCCTTGCCCGTCCCCCCAATTTCTCCTACCCTACAAAGGGAGGGAATCCCAAAAGGACCCTTCTACCCCTGTGACTGGTTTTCATGA... | TTACCCTAATGTAAAAGTCCCCCTGCGAGTTTCCAGCACGGATCTGAAAGGCATTGTAGGCACCGGGGTAGACGGAGGTCGCCTGGATCTGGAACACGTCAGCGGGCACGCTCCGCTCCGAGGTGATGGTCATGTAGCGGTGCACAATGGATGAAGGCTGCTCTCGACATAGAGGGTTGGAGGCCGGGCAGAGACAGCGGCTAGAGACCCCGAGGTGGGGGACACAAATGAGCTCCTTGCCCGTCCCCCCAATTTCTCCTACCCTACAAAGGGAGGGAATCCCAAAAGGACCCTTCTACCCCTGTGACTGGTTTTCATGA... |
Task1_train_16095 | This alteration occurs within gene EFEMP2 (EGF containing fibulin extracellular matrix protein 2) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Familial aortopathy | GGGCAACCTGTACCTTGGCAGAGGCGTGTGGCCAGCAGCTGGTAACCCTGTGGGCAGTGGCAGGAGAAACGGCCTGGCTCGTTGATGCAGCGGTACTGACAGAGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGC... | GGGCAACCTGTACCTTGGCAGAGGCGTGTGGCCAGCAGCTGGTAACCCTGTGGGCAGTGGCAGGAGAAACGGCCTGGCTCGTTGATGCAGCGGTACTGACAGAGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGC... |
Task1_train_16096 | The following genetic variant occurs in EFEMP2 (EGF containing fibulin extracellular matrix protein 2) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cutis laxa, autosomal recessive, type 1B | GGGCAACCTGTACCTTGGCAGAGGCGTGTGGCCAGCAGCTGGTAACCCTGTGGGCAGTGGCAGGAGAAACGGCCTGGCTCGTTGATGCAGCGGTACTGACAGAGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGC... | GGGCAACCTGTACCTTGGCAGAGGCGTGTGGCCAGCAGCTGGTAACCCTGTGGGCAGTGGCAGGAGAAACGGCCTGGCTCGTTGATGCAGCGGTACTGACAGAGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGC... |
Task1_train_16097 | This variant impacts the gene EFEMP2 (EGF containing fibulin extracellular matrix protein 2) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cutis laxa, autosomal recessive, type 1B | AGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTC... | AGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTC... |
Task1_train_16098 | A variant affecting Chromosome 11, within the gene EFEMP2 (EGF containing fibulin extracellular matrix protein 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Cutis laxa, autosomal recessive, type 1B | GTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTCAT... | GTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTCAT... |
Task1_train_16099 | A variant on Chromosome 11 in gene EFEMP2 (EGF containing fibulin extracellular matrix protein 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Cutis laxa, autosomal recessive, type 1B | CGTGGAGGGAGATATGAATGTCCTCATTTTGTAGAGGAAGGAGAAAATCATACCTCCTAGGATTCTTGAGAGGAAGGAGGCCAAGTGTGTCAGGGAATACACTACGAGGGCAGGTTCTCATTAAGTGGCAGTTCATTCACTTTAAAGCACTGCAGCTTGAGACTTGCTGGAGCCCATCTATCACACTCTCACCTAATCCTCAAGACAACCCATTTTATAGAAGAAGAAACAGGCTCAGAGAGGAGTGACTTGTCCTAGTGCAAAATTCAAATGCAGGTAAATGCAGGTGAGCCTGATATGTGGGACAGGTGGCACCCACA... | CGTGGAGGGAGATATGAATGTCCTCATTTTGTAGAGGAAGGAGAAAATCATACCTCCTAGGATTCTTGAGAGGAAGGAGGCCAAGTGTGTCAGGGAATACACTACGAGGGCAGGTTCTCATTAAGTGGCAGTTCATTCACTTTAAAGCACTGCAGCTTGAGACTTGCTGGAGCCCATCTATCACACTCTCACCTAATCCTCAAGACAACCCATTTTATAGAAGAAGAAACAGGCTCAGAGAGGAGTGACTTGTCCTAGTGCAAAATTCAAATGCAGGTAAATGCAGGTGAGCCTGATATGTGGGACAGGTGGCACCCACA... |
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