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_16100 | A variant affecting Chromosome 11, within the gene BANF1 (barrier to autointegration nuclear assembly factor 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Nestor-Guillermo progeria syndrome | GGCCGAGGTGGGCGGATCACGATGTCAGGAGATCGAGACCATCCTGGCTAATACGGTGAAACCCTCTCTCTACAAAAATACAAAAAATTAGCCGGGCGTGATGACGAGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTAACTCCTATAATCTTAAGTACTAGTGTAATATAAAACTATACGCATGCTCCAGAGAAGTCA... | GGCCGAGGTGGGCGGATCACGATGTCAGGAGATCGAGACCATCCTGGCTAATACGGTGAAACCCTCTCTCTACAAAAATACAAAAAATTAGCCGGGCGTGATGACGAGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTAACTCCTATAATCTTAAGTACTAGTGTAATATAAAACTATACGCATGCTCCAGAGAAGTCA... |
Task1_train_16101 | This sequence variant lies in SF3B2 (splicing factor 3b subunit 2) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Craniofacial microsomia 1 | AGACTCCAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAAAAATACAAATAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCGCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCGCAGATAGAGCCACTGCACTCCAGCCTGGGCAACTGAGACTCTGTCTCAAAAAAAAAAAAAAATAAATAAATAAATAAA... | AGACTCCAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAAAAATACAAATAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCGCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCGCAGATAGAGCCACTGCACTCCAGCCTGGGCAACTGAGACTCTGTCTCAAAAAAAAAAAAAAATAAATAAATAAATAAA... |
Task1_train_16102 | Here is a genetic alteration in PACS1 (phosphofurin acidic cluster sorting protein 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Intellectual disability | TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGG... | TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGG... |
Task1_train_16103 | The following genetic variant occurs in PACS1 (phosphofurin acidic cluster sorting protein 1) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; See cases | TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGG... | TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGG... |
Task1_train_16104 | A variant has been detected on Chromosome 11 in PACS1 (phosphofurin acidic cluster sorting protein 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Schuurs-Hoeijmakers syndrome | TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGG... | TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGG... |
Task1_train_16105 | A sequence alteration has been identified in PACS1 (phosphofurin acidic cluster sorting protein 1) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Neurodevelopmental disorder | TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGG... | TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGG... |
Task1_train_16106 | Given this variant in gene PACS1 (phosphofurin acidic cluster sorting protein 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Inborn genetic diseases | TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGG... | TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGG... |
Task1_train_16107 | Consider a variant on Chromosome 11 in gene PACS1 (phosphofurin acidic cluster sorting protein 1). Determine its clinical classification and disease relevance. | Pathogenic; PACS1-related syndrome | TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGG... | TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGG... |
Task1_train_16108 | Given a variant located on Chromosome 11 and affecting PACS1 (phosphofurin acidic cluster sorting protein 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Global developmental delay | TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGG... | TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGG... |
Task1_train_16109 | The gene PACS1 (phosphofurin acidic cluster sorting protein 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Schuurs-Hoeijmakers syndrome | GTTGACTATTCTAGATTTGTGCTTCTTACTTTATAGAAGTTATGCCCTCAGTAAACATTTTGAAAACATAAAGACCAGGCAGAGGCAGGGAAGTAGGCAGGTGTGCGGCCTGTATTGGTAGCAGAGTCCTCCCTGAGGGCTGGATCATTAGGGAGGTAGTGGGCCCAGGGAGGAGGCACGGGAGGTTAATTTAGAAAGGTGGCCCAGGCTGGGTCATGGTGGGCCTCAGAGGCCCCACTAAAGAATCAGACTTGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGTACTTTTGGGAGGCTGAGGCAGGCACATTGTTT... | GTTGACTATTCTAGATTTGTGCTTCTTACTTTATAGAAGTTATGCCCTCAGTAAACATTTTGAAAACATAAAGACCAGGCAGAGGCAGGGAAGTAGGCAGGTGTGCGGCCTGTATTGGTAGCAGAGTCCTCCCTGAGGGCTGGATCATTAGGGAGGTAGTGGGCCCAGGGAGGAGGCACGGGAGGTTAATTTAGAAAGGTGGCCCAGGCTGGGTCATGGTGGGCCTCAGAGGCCCCACTAAAGAATCAGACTTGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGTACTTTTGGGAGGCTGAGGCAGGCACATTGTTT... |
Task1_train_16110 | This genomic variant is located on Chromosome 11, within the TMEM151A (transmembrane protein 151A) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Episodic kinesigenic dyskinesia 3 | TCCCAGTGCCGCAGCGCAGCGGGGGATGCTGCCCCCACCCCCAGGGCCGCGGGGTCAGGTCCCCAGCCCGGCCCAGCCGCTCACGAGGTGTCCGGGCAGCGCCTGCAATGCAGCAGCAGTCGCAGAGCCTAGAGGGGAGGAGGGGAAGAGGAAGGGAGGCGCCTGGGTACCCCTTCTCCTTGTCCTCGAGGTGAGGATTGAGGGCCCATTCTGCTGGCTGGGACCCCCGACGGCCCCTCCTCAGCCCTAGCCAGGAAGGTCTGCAGGACCTGGGGCCCCGAGTGATGTGTGGGGTGATAGGGTGGTGAGTGGGGCTGTGC... | TCCCAGTGCCGCAGCGCAGCGGGGGATGCTGCCCCCACCCCCAGGGCCGCGGGGTCAGGTCCCCAGCCCGGCCCAGCCGCTCACGAGGTGTCCGGGCAGCGCCTGCAATGCAGCAGCAGTCGCAGAGCCTAGAGGGGAGGAGGGGAAGAGGAAGGGAGGCGCCTGGGTACCCCTTCTCCTTGTCCTCGAGGTGAGGATTGAGGGCCCATTCTGCTGGCTGGGACCCCCGACGGCCCCTCCTCAGCCCTAGCCAGGAAGGTCTGCAGGACCTGGGGCCCCGAGTGATGTGTGGGGTGATAGGGTGGTGAGTGGGGCTGTGC... |
Task1_train_16111 | Here is a genetic alteration in TMEM151A (transmembrane protein 151A) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Episodic kinesigenic dyskinesia 3 | GTGCAACGTGTATGTGCACGTGTGTGTCCTGTGGTGGATGGGTATGTGGTGTGTGCGTGTGTGTGTGTATGTGTGTGTACCATGCTACGGTTCTGGGAGTCTGTGCCCTGGGGACAGGCGAGGGTCTGGAGTTTCCTGGGTGACAGGCAGTGTGGCCCTCCACGGTGGGTGGGTCTGTGATGAGCATGTGTTGGAGGGGCGTGGACAAGTGTGTGTGCACCTGACAGGCCTTGCAGGTCAGCTGGCGCTGTGCTCCCATGCTGGGTGATGGGGACAGGCTGTATCTGGGCTGGGCTAGGGGGTGGTTCCTCTCCTCTTGG... | GTGCAACGTGTATGTGCACGTGTGTGTCCTGTGGTGGATGGGTATGTGGTGTGTGCGTGTGTGTGTGTATGTGTGTGTACCATGCTACGGTTCTGGGAGTCTGTGCCCTGGGGACAGGCGAGGGTCTGGAGTTTCCTGGGTGACAGGCAGTGTGGCCCTCCACGGTGGGTGGGTCTGTGATGAGCATGTGTTGGAGGGGCGTGGACAAGTGTGTGTGCACCTGACAGGCCTTGCAGGTCAGCTGGCGCTGTGCTCCCATGCTGGGTGATGGGGACAGGCTGTATCTGGGCTGGGCTAGGGGGTGGTTCCTCTCCTCTTGG... |
Task1_train_16112 | A variant was discovered in gene TMEM151A (transmembrane protein 151A), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Episodic kinesigenic dyskinesia 3 | GAGGCCTGGTAGGTCTGGGGTAGGAGAGGTGGCCCCTTAACCCCCCTTTTGTTGTTTCCACTTTTTTCCTCCCCTTTTTACCCTTCCCCTCGCCCCACTTTATCCCTACCTGCTTCTCTCTCCATGGCACCTGAGGGTGAGGTGGCTAGGCTGGCAGCCCTGCCAGGGAGGGTGTGGCAAGCCCTCTGAGCCAGGGAGTGGCCCCTGCTGCCCAGTAGCTGTGTCCCACCCCCTTGCTCAGCACAGATGGGGAGTGGAGGATGGCCCTCCATCTGCTCCCCACCCCAAGACTCGCACCTCCCCCGTTCTTGAGGCTCCCT... | GAGGCCTGGTAGGTCTGGGGTAGGAGAGGTGGCCCCTTAACCCCCCTTTTGTTGTTTCCACTTTTTTCCTCCCCTTTTTACCCTTCCCCTCGCCCCACTTTATCCCTACCTGCTTCTCTCTCCATGGCACCTGAGGGTGAGGTGGCTAGGCTGGCAGCCCTGCCAGGGAGGGTGTGGCAAGCCCTCTGAGCCAGGGAGTGGCCCCTGCTGCCCAGTAGCTGTGTCCCACCCCCTTGCTCAGCACAGATGGGGAGTGGAGGATGGCCCTCCATCTGCTCCCCACCCCAAGACTCGCACCTCCCCCGTTCTTGAGGCTCCCT... |
Task1_train_16113 | The gene BBS1 (Bardet-Biedl syndrome 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Bardet-Biedl syndrome | ACCCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAA... | ACCCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAA... |
Task1_train_16114 | This variant affects the gene BBS1 (Bardet-Biedl syndrome 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Bardet-Biedl syndrome 1 | ACCCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAA... | ACCCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAA... |
Task1_train_16115 | This sequence variant lies in BBS1 (Bardet-Biedl syndrome 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Bardet-Biedl syndrome | CCCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAAT... | CCCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAAT... |
Task1_train_16116 | This alteration in BBS1 (Bardet-Biedl syndrome 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Bardet-Biedl syndrome 1 | CCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAATT... | CCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAATT... |
Task1_train_16117 | Consider a variant on Chromosome 11 in gene BBS1 (Bardet-Biedl syndrome 1). Determine its clinical classification and disease relevance. | Pathogenic; Bardet-Biedl syndrome | CCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAATT... | CCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAATT... |
Task1_train_16118 | This mutation occurs in ZDHHC24, BBS1 (zDHHC palmitoyltransferase 24| Bardet-Biedl syndrome 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Bardet-Biedl syndrome | ACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACAGTCATCACCACCATGACCACCTTGAAGA... | ACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACAGTCATCACCACCATGACCACCTTGAAGA... |
Task1_train_16119 | This sequence variant lies in BBS1, ZDHHC24 (Bardet-Biedl syndrome 1| zDHHC palmitoyltransferase 24) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Bardet-Biedl syndrome | AGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCATCTGGGTGAGGGCAGAGTCAGGGCCAGAGGGGCAGAGGCCAGGATGCGCAGGA... | AGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCATCTGGGTGAGGGCAGAGTCAGGGCCAGAGGGGCAGAGGCCAGGATGCGCAGGA... |
Task1_train_16120 | The gene CTSF (cathepsin F) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Neuronal ceroid lipofuscinosis 13 | GGATGGAGGCCCAGTGAGGGGGAGGACTTGCCCAGGGTCATTCAGTGAACTGGATGTGGAGCTAGAGCCAGTGGCCAGGCACTGGCCGCCCACTGACAGTGGCCTGTCCCCTGACCGCCAGCACATCCGCGTGGGCTGGGAGCAGCTGCTCACCTCCATTGCCCGCACCATCAATGAAGTGGAGAACCAGGTACTGACCCGAGACGCCAAGGGACTGAGCCAGGAGCAGCTCAACGAGTTCCGAGCATCCTTCAACCACTTTGACAGGGTCAGCAGGGGCCTGGCCCTGTGGGGTAAGACACTTGGGGGCTGGTGGAGGC... | GGATGGAGGCCCAGTGAGGGGGAGGACTTGCCCAGGGTCATTCAGTGAACTGGATGTGGAGCTAGAGCCAGTGGCCAGGCACTGGCCGCCCACTGACAGTGGCCTGTCCCCTGACCGCCAGCACATCCGCGTGGGCTGGGAGCAGCTGCTCACCTCCATTGCCCGCACCATCAATGAAGTGGAGAACCAGGTACTGACCCGAGACGCCAAGGGACTGAGCCAGGAGCAGCTCAACGAGTTCCGAGCATCCTTCAACCACTTTGACAGGGTCAGCAGGGGCCTGGCCCTGTGGGGTAAGACACTTGGGGGCTGGTGGAGGC... |
Task1_train_16121 | Here’s a variant in CTSF (cathepsin F) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Neuronal ceroid lipofuscinosis 13 | TGCTCACCTCCATTGCCCGCACCATCAATGAAGTGGAGAACCAGGTACTGACCCGAGACGCCAAGGGACTGAGCCAGGAGCAGCTCAACGAGTTCCGAGCATCCTTCAACCACTTTGACAGGGTCAGCAGGGGCCTGGCCCTGTGGGGTAAGACACTTGGGGGCTGGTGGAGGCTGGAGACCAAGCCTGATAACCACTCACCCCCTACAGAAGCAGAATGGGATGATGGAGCCTGATGACTTCCGAGCTTGCCTCATCTCCATGGGCTATGACCTGGTGAGAGCTCCCCAGCTCCTTCCCAGGAGTCCCAAAGTACCCCC... | TGCTCACCTCCATTGCCCGCACCATCAATGAAGTGGAGAACCAGGTACTGACCCGAGACGCCAAGGGACTGAGCCAGGAGCAGCTCAACGAGTTCCGAGCATCCTTCAACCACTTTGACAGGGTCAGCAGGGGCCTGGCCCTGTGGGGTAAGACACTTGGGGGCTGGTGGAGGCTGGAGACCAAGCCTGATAACCACTCACCCCCTACAGAAGCAGAATGGGATGATGGAGCCTGATGACTTCCGAGCTTGCCTCATCTCCATGGGCTATGACCTGGTGAGAGCTCCCCAGCTCCTTCCCAGGAGTCCCAAAGTACCCCC... |
Task1_train_16122 | A variant on Chromosome 11 in gene CTSF (cathepsin F) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Neuronal ceroid lipofuscinosis 13 | GGGAGCAAATCTGCTTCCTGCTGTGGGTAGGATGCAGATTTCAGCCTACCATAAAGGACTTCCTACAGCCAGGGCTAAGGTCTCTGGAGGAAGGGAACTCCCTTGTTACTGGGGCTCTGCTAGCTGAGGTTGGACAGTCCCCAGGAGGGGACACTGGGAGCCCTCCTGGCTTTAGTGCTCATGGGCATAGTGCCTGGCCTCTATCCCTGCAGGGGGAAGTGGAGTTTGCTCGCATCATGACCATGGTGGACCCCAACGCAGCTGGGGTGGTGACCTTCCAGGCCTTCATAGACTTCATGACCCGAGAGACAGCCGAGACT... | GGGAGCAAATCTGCTTCCTGCTGTGGGTAGGATGCAGATTTCAGCCTACCATAAAGGACTTCCTACAGCCAGGGCTAAGGTCTCTGGAGGAAGGGAACTCCCTTGTTACTGGGGCTCTGCTAGCTGAGGTTGGACAGTCCCCAGGAGGGGACACTGGGAGCCCTCCTGGCTTTAGTGCTCATGGGCATAGTGCCTGGCCTCTATCCCTGCAGGGGGAAGTGGAGTTTGCTCGCATCATGACCATGGTGGACCCCAACGCAGCTGGGGTGGTGACCTTCCAGGCCTTCATAGACTTCATGACCCGAGAGACAGCCGAGACT... |
Task1_train_16123 | With a mutation on Chromosome 11 in gene CTSF (cathepsin F), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Neuronal ceroid lipofuscinosis 13 | GCCCCAGCCCAGTGCCCTCTGCTCACCCTGAGGTACCCAGTGCCTTTCCCTCTGCCAGCTGTACCTCCCGGGGAGGGGCCTGGACACATGTCAGGCTGGGGCAGCAGCCACTCTGATCAGCACCAGGTCCCGAGCTGGGGGCCCCTCTTCAGTCCACCACCGCCGAGCTGGCCATGGTGTTCACGCCACAGGCCCCGGACCCACGATGCAAGTAGTAGTAACCCTGGGGGAGAGGGGGAGCTGGTGAGGGCACCAGGGTAGGATGGCGGCTGGAGGGCCAGGGGCCAAGCCAGCAAGACTCACCTTCTCACCCCAGTCAG... | GCCCCAGCCCAGTGCCCTCTGCTCACCCTGAGGTACCCAGTGCCTTTCCCTCTGCCAGCTGTACCTCCCGGGGAGGGGCCTGGACACATGTCAGGCTGGGGCAGCAGCCACTCTGATCAGCACCAGGTCCCGAGCTGGGGGCCCCTCTTCAGTCCACCACCGCCGAGCTGGCCATGGTGTTCACGCCACAGGCCCCGGACCCACGATGCAAGTAGTAGTAACCCTGGGGGAGAGGGGGAGCTGGTGAGGGCACCAGGGTAGGATGGCGGCTGGAGGGCCAGGGGCCAAGCCAGCAAGACTCACCTTCTCACCCCAGTCAG... |
Task1_train_16124 | This sequence change occurs on Chromosome 11, altering CTSF (cathepsin F). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; CTSF-related disorder | AAGCGAGGGGCCCACCTACCAGCCTCAGGGAGAAGCCCTGGGGCAGGGAGGAAGCACGCACCCACCCGCCTATTGCAGGTTATTAGGCCATCAATATTTACCCTCCCACAGCTCAGCTTCCCTGCCATAGAGAGGACAGATGATGCCCAGCTGGTCATGGCCCAGGCAGTGGGTAAGGACAGGGTTCCTAGGCATTCCCCCTATTTCCCCTCTAGAGGACCTGAGATGCTGTGATCCCACCCCTGCCTGTGGCCTGGCTGGATGCAGGACAGGCAGCGGAACTCACGGTTGCCGTAGCCCACAAGCAACACCGCATGGTC... | AAGCGAGGGGCCCACCTACCAGCCTCAGGGAGAAGCCCTGGGGCAGGGAGGAAGCACGCACCCACCCGCCTATTGCAGGTTATTAGGCCATCAATATTTACCCTCCCACAGCTCAGCTTCCCTGCCATAGAGAGGACAGATGATGCCCAGCTGGTCATGGCCCAGGCAGTGGGTAAGGACAGGGTTCCTAGGCATTCCCCCTATTTCCCCTCTAGAGGACCTGAGATGCTGTGATCCCACCCCTGCCTGTGGCCTGGCTGGATGCAGGACAGGCAGCGGAACTCACGGTTGCCGTAGCCCACAAGCAACACCGCATGGTC... |
Task1_train_16125 | A variant on Chromosome 11 in gene SPTBN2 (spectrin beta, non-erythrocytic 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal recessive spinocerebellar ataxia 14 | GCAACCTCTAACGGTCTCGCTGTCATGCTGCCTGCCCACAGGCCTTCTTCAGAGTAGCCAAAGTGACTTTTTTACAAACATAAGGTACAATCAAATCTCTCCCCCTCTCAAAACCTTCTAATCACTTTATTTATTTATTTATTTTGAGATGGAGTCTCGCTCCTGTAGTGCAGGCTGGAGTGCAGTAGCACAATCTCAGTTCACTGCAACCTCCACCTCCCAGGTCCAAGCAATTCTCCTTCCTCAGCCTCCTGACTAGCTGGGATTACAGGCGTGTGCCACCACACTCAGCTAATTTTTGTATTTTTAGCAGAGATGGG... | GCAACCTCTAACGGTCTCGCTGTCATGCTGCCTGCCCACAGGCCTTCTTCAGAGTAGCCAAAGTGACTTTTTTACAAACATAAGGTACAATCAAATCTCTCCCCCTCTCAAAACCTTCTAATCACTTTATTTATTTATTTATTTTGAGATGGAGTCTCGCTCCTGTAGTGCAGGCTGGAGTGCAGTAGCACAATCTCAGTTCACTGCAACCTCCACCTCCCAGGTCCAAGCAATTCTCCTTCCTCAGCCTCCTGACTAGCTGGGATTACAGGCGTGTGCCACCACACTCAGCTAATTTTTGTATTTTTAGCAGAGATGGG... |
Task1_train_16126 | Gene SPTBN2 (spectrin beta, non-erythrocytic 2) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | AAGCCGAATTGGCTTCCAGCGCACAACTGAGGCTGACCATAACTTGAAATCTGTGGGTTCTTTTAAATAGGCCAGATTTTATCCTAAAGGTAAGACTATGAGACCAGAAGCCTCTTGCCTATTTCTGGAAATACATGGGCAGGCAGGAGCCACTGAAGTCATCTCGGAAAGTTACAGAATGCTTAGCTTTATTTCCAGGTTCTGAATTACAGCCATGCTACCCAGAGGCTCTCCAAGGAGCACTGCATGAAGCCTATGTCTGTTGCTAGCTCGCTGACACTTGTCATTCTGCAGTAAAAAGGCCCAGGTGATAGGGCTAC... | AAGCCGAATTGGCTTCCAGCGCACAACTGAGGCTGACCATAACTTGAAATCTGTGGGTTCTTTTAAATAGGCCAGATTTTATCCTAAAGGTAAGACTATGAGACCAGAAGCCTCTTGCCTATTTCTGGAAATACATGGGCAGGCAGGAGCCACTGAAGTCATCTCGGAAAGTTACAGAATGCTTAGCTTTATTTCCAGGTTCTGAATTACAGCCATGCTACCCAGAGGCTCTCCAAGGAGCACTGCATGAAGCCTATGTCTGTTGCTAGCTCGCTGACACTTGTCATTCTGCAGTAAAAAGGCCCAGGTGATAGGGCTAC... |
Task1_train_16127 | Here is a variant affecting PC (pyruvate carboxylase) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Pyruvate carboxylase deficiency | TTTAATCTTCCTGTGACTTGATTTCTGTGTCCATAAGAGGATGAAGGTTAATTCCCTGTGTTAATAGGTGTTAAATACTTAGAACAGGCCCCACCCCTCAAGCAAGTTCAGTACTACTAGTCCTGTTTGGGGAGTATACACAGTAGGCACCCAATAGTGACTTAAAACAGGGCCACGATGGTCATTCTCACTACCCTCTGAGGAGAACGACACAACTGACCTGCCCACCCATGGGGAGCTTGAAAGGCAGCCCCCCACTGCTGAGTGGTGCAGGCTGGGGGCTGCACAGGATCCAGCATGGAGGGCAGGGGAAAGCCAGC... | TTTAATCTTCCTGTGACTTGATTTCTGTGTCCATAAGAGGATGAAGGTTAATTCCCTGTGTTAATAGGTGTTAAATACTTAGAACAGGCCCCACCCCTCAAGCAAGTTCAGTACTACTAGTCCTGTTTGGGGAGTATACACAGTAGGCACCCAATAGTGACTTAAAACAGGGCCACGATGGTCATTCTCACTACCCTCTGAGGAGAACGACACAACTGACCTGCCCACCCATGGGGAGCTTGAAAGGCAGCCCCCCACTGCTGAGTGGTGCAGGCTGGGGGCTGCACAGGATCCAGCATGGAGGGCAGGGGAAAGCCAGC... |
Task1_train_16128 | The gene PC (pyruvate carboxylase) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Congenital lactic acidosis | CGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTC... | CGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTC... |
Task1_train_16129 | This sequence change occurs on Chromosome 11, altering PC (pyruvate carboxylase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Pyruvate carboxylase deficiency | GATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAG... | GATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAG... |
Task1_train_16130 | This variant affects the gene PC (pyruvate carboxylase) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Pyruvate carboxylase deficiency | CCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGC... | CCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGC... |
Task1_train_16131 | A variant has been detected on Chromosome 11 in PC (pyruvate carboxylase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Pyruvate carboxylase deficiency | CATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGC... | CATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGC... |
Task1_train_16132 | A genomic change on Chromosome 11 affects PC (pyruvate carboxylase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Pyruvate carboxylase deficiency | CAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGG... | CAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGG... |
Task1_train_16133 | The following genetic variant occurs in PC (pyruvate carboxylase) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Pyruvate carboxylase deficiency | TCTTGGTGCACATTTGGGGAGGACTTGGCACCCCCAGACACCAGAGACACTTATCCTGCTGCTGGCCCCGTGGTCACGGTCTCTAGTGCCCCTTTCTCCACCTGGGGGGCGGGGGACGGTCTAAAGAGGAAGATCTTTCCGGGCCCTCCAGGGTGCAGAAGCCCACCTCTAGCTGCACCCCTAGCAGGCGCAAGGTTCTAGGGCCCAGGGACCAGCTTGGCACGTGGGGAGCTGCTGAGGGTGAGGAGGGAGCAGAGGAACCGGGCACAACCCCAGGAGCCAGCCAGGACCACAGAGCAACGGGCAGGGGCAGGCGAGGG... | TCTTGGTGCACATTTGGGGAGGACTTGGCACCCCCAGACACCAGAGACACTTATCCTGCTGCTGGCCCCGTGGTCACGGTCTCTAGTGCCCCTTTCTCCACCTGGGGGGCGGGGGACGGTCTAAAGAGGAAGATCTTTCCGGGCCCTCCAGGGTGCAGAAGCCCACCTCTAGCTGCACCCCTAGCAGGCGCAAGGTTCTAGGGCCCAGGGACCAGCTTGGCACGTGGGGAGCTGCTGAGGGTGAGGAGGGAGCAGAGGAACCGGGCACAACCCCAGGAGCCAGCCAGGACCACAGAGCAACGGGCAGGGGCAGGCGAGGG... |
Task1_train_16134 | The variant affects gene PC (pyruvate carboxylase), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | AATGCCTTCAACAAATATTAAATAATTTGAAAAGTAGAATAAAAATTCTATATAAAACATCTCTATTGCATCAAACTATGTCTCTAGTAAAACAGGTAAACCGGGAAAGGAGCAAACCAAAGACAGCCGGAGATGCCTGGGTTCCAGCGCCAGCTGTGTGACCCCGAGCAACTCTCCAAATGTCTCTGAGCCTTGCTTTACTCCTCTGACAGATGGGAGCACCTGGGCCTGAGCAATCGGCAGCGTCCTGACAGAGAGGAGGGCTGTCAGTCATTTTTATTTGCTCCTTTGTGCTGATTTTTATAATAACCACGTAATGC... | AATGCCTTCAACAAATATTAAATAATTTGAAAAGTAGAATAAAAATTCTATATAAAACATCTCTATTGCATCAAACTATGTCTCTAGTAAAACAGGTAAACCGGGAAAGGAGCAAACCAAAGACAGCCGGAGATGCCTGGGTTCCAGCGCCAGCTGTGTGACCCCGAGCAACTCTCCAAATGTCTCTGAGCCTTGCTTTACTCCTCTGACAGATGGGAGCACCTGGGCCTGAGCAATCGGCAGCGTCCTGACAGAGAGGAGGGCTGTCAGTCATTTTTATTTGCTCCTTTGTGCTGATTTTTATAATAACCACGTAATGC... |
Task1_train_16135 | Here’s a variant in PC (pyruvate carboxylase) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Pyruvate carboxylase deficiency | GACCCAGGCCTCTCCCAGCCGCTGCTTCTGCTTGGAGGTGTTTTCAGAAAGTCCCCTTCTAGTCTACTGCGCAGTCACCTCTGGCCACCACCACCCAAAGAAATTCATTTGAGAGGTACCAACAGATAATGACTCTAACTCAAATTTCAGCCCTAATTCCAGTTTCACTTTTGGTCTCACCAAAACGATAAACCAGACTGAATCACCTCCCTTAAACCTGTTCTGGAATGTGAAATAGTATAAGCCAGTAAATAAGACCTGACTTAAACGCGACCCTGGTCGATGCCTCGCATTAGCTGTGGCTGAGGCCTTGCTGCAGA... | GACCCAGGCCTCTCCCAGCCGCTGCTTCTGCTTGGAGGTGTTTTCAGAAAGTCCCCTTCTAGTCTACTGCGCAGTCACCTCTGGCCACCACCACCCAAAGAAATTCATTTGAGAGGTACCAACAGATAATGACTCTAACTCAAATTTCAGCCCTAATTCCAGTTTCACTTTTGGTCTCACCAAAACGATAAACCAGACTGAATCACCTCCCTTAAACCTGTTCTGGAATGTGAAATAGTATAAGCCAGTAAATAAGACCTGACTTAAACGCGACCCTGGTCGATGCCTCGCATTAGCTGTGGCTGAGGCCTTGCTGCAGA... |
Task1_train_16136 | Here is a mutation in GRK2 (G protein-coupled receptor kinase 2) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Jeune thoracic dystrophy | AGAAGTTTCATGTGACCCACCCTGCGGACCTGGCCCGGAGGGCAGGCTTGGGGCAGGTCTCGGGAAGCAGGCTCCAGCCCCACATGGCTCTGATTTGGCCTTCCCGAGAACAGGAGCTCAGCTCTGGACAGGGGGTATCCTGGCCTGATGGGATCAGGCATTGGGGGTCAGCCTGGGGGAGTCGGTGTGTCAAGAAGCACAAAGTTTGGGTCCCAGGCCTGTGCCTTTTGTCCTTGGGCAAGTTGCTTCACCTCTCTGAGCCTGATGGTGTCCTCATCTGGGAGATGGGACTCATGAGTCCGACTGTGCAGGCCTGTCAG... | AGAAGTTTCATGTGACCCACCCTGCGGACCTGGCCCGGAGGGCAGGCTTGGGGCAGGTCTCGGGAAGCAGGCTCCAGCCCCACATGGCTCTGATTTGGCCTTCCCGAGAACAGGAGCTCAGCTCTGGACAGGGGGTATCCTGGCCTGATGGGATCAGGCATTGGGGGTCAGCCTGGGGGAGTCGGTGTGTCAAGAAGCACAAAGTTTGGGTCCCAGGCCTGTGCCTTTTGTCCTTGGGCAAGTTGCTTCACCTCTCTGAGCCTGATGGTGTCCTCATCTGGGAGATGGGACTCATGAGTCCGACTGTGCAGGCCTGTCAG... |
Task1_train_16137 | Here is a mutation in CLCF1, LOC100130987 (cardiotrophin like cytokine factor 1| uncharacterized LOC100130987) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cold-induced sweating syndrome 2 | GAAGCACAGATGAATAGCTTTGCTCATCATAAGGAGGCTGGGCCAGAGGGCAGAAATAGAAATTCAAGGTGGGAAGACAGACCTGTGAGACCATTAATGCAATCCAGGAAGGTGAGGCTGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAGCCAGGCATGGTGGTGCACCCCTGTAATCCCAGCTACTCGAGAGGCTGAAGCATGAGAATCATTTG... | GAAGCACAGATGAATAGCTTTGCTCATCATAAGGAGGCTGGGCCAGAGGGCAGAAATAGAAATTCAAGGTGGGAAGACAGACCTGTGAGACCATTAATGCAATCCAGGAAGGTGAGGCTGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAGCCAGGCATGGTGGTGCACCCCTGTAATCCCAGCTACTCGAGAGGCTGAAGCATGAGAATCATTTG... |
Task1_train_16138 | A variant found in Chromosome 11 affects LOC100130987, CLCF1 (uncharacterized LOC100130987| cardiotrophin like cytokine factor 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Cold-induced sweating syndrome 2 | CAGTGGCCCTGGGCAGAGTCTCTGCCCCCAGGCGGGGAGGGTTGAAGTCTGGCTCGTTGAAAGGGGGGCCCAGGTAGTTCAGCTGTGAAAAGGAGAGGGTGATGGGGAAGGAGGAGGGCAGAGCCGCTGGCTCACCACCAAGGAGATACCTGCTCCCAAAGTTTCTATTTTTTGTGTCCCCTGACACTGGCCCTGTCTCCATGCTAGGCTTCTTTGTTCATGGCCTCCCTGAGTTTTTCCAATAAGGATATCATTTGTATGCAGGTGACAGTTGAAGCAGTGGCGGTGGTGAGCTCTCCAATGGAGAGGCGTAGAAAAAG... | CAGTGGCCCTGGGCAGAGTCTCTGCCCCCAGGCGGGGAGGGTTGAAGTCTGGCTCGTTGAAAGGGGGGCCCAGGTAGTTCAGCTGTGAAAAGGAGAGGGTGATGGGGAAGGAGGAGGGCAGAGCCGCTGGCTCACCACCAAGGAGATACCTGCTCCCAAAGTTTCTATTTTTTGTGTCCCCTGACACTGGCCCTGTCTCCATGCTAGGCTTCTTTGTTCATGGCCTCCCTGAGTTTTTCCAATAAGGATATCATTTGTATGCAGGTGACAGTTGAAGCAGTGGCGGTGGTGAGCTCTCCAATGGAGAGGCGTAGAAAAAG... |
Task1_train_16139 | A variant was discovered in gene CABP4 (calcium binding protein 4), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | GGGTGACTGCATGCGGACCCTGGGCTACATGCCCACCGAGATGGAGCTCCTGGAGGTCTCGCAGCACATCAAGATGCGCAGTCAGTCAGGGAGCCCGCCCGCCCGGGCAGCCTGCGTAGTTCAGGGGGTCACGAGGGGCTGGCAGGAGGTGGCCCTTGGGAGTCCATCGGGGTGCTAGTGGGAGTGAGGGAGGGTGGCGGTTTCCAGGCAGGGGCACCGGGTTCAAGCTCCTGCCTCTCTGTGTGGGAAGGCAGGCCAGCAAGGCGGCCCGGAGACCCAGGAGAGCCCCTTGGGGCTCAGGTTGAGGACCCTGGCTCGGG... | GGGTGACTGCATGCGGACCCTGGGCTACATGCCCACCGAGATGGAGCTCCTGGAGGTCTCGCAGCACATCAAGATGCGCAGTCAGTCAGGGAGCCCGCCCGCCCGGGCAGCCTGCGTAGTTCAGGGGGTCACGAGGGGCTGGCAGGAGGTGGCCCTTGGGAGTCCATCGGGGTGCTAGTGGGAGTGAGGGAGGGTGGCGGTTTCCAGGCAGGGGCACCGGGTTCAAGCTCCTGCCTCTCTGTGTGGGAAGGCAGGCCAGCAAGGCGGCCCGGAGACCCAGGAGAGCCCCTTGGGGCTCAGGTTGAGGACCCTGGCTCGGG... |
Task1_train_16140 | This variant lies on Chromosome 11 and affects the gene CABP2 (calcium binding protein 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 93 | TGCGGCCGTCCCCATTGGTGTCGAACTGTGGCGGCGTTGGTTGTGGCGTCTGGTCACTGACAGTCATTCACACGCGCAGCCCCTCACTCACGGCAGACACGCAGCCCTGCCCGCCCTCAGCCCCAGTGGCCGCACCTCCCGGAAGGCGTCCCGTAGCTCCCGGACACCGATCATGTCTGCCGTCTCTGCCAGCAGCTTGGGGCCCATCAGCTCCACGAAGTCTTCAAAGTCCACCTTTCCGCCACCTGGGGGTCCCGTCCATTACAGACCCAGGGCATCAGAGACCCCTGCCCCTCCCTGGCCCTCCCTCCTCTGCCCTC... | TGCGGCCGTCCCCATTGGTGTCGAACTGTGGCGGCGTTGGTTGTGGCGTCTGGTCACTGACAGTCATTCACACGCGCAGCCCCTCACTCACGGCAGACACGCAGCCCTGCCCGCCCTCAGCCCCAGTGGCCGCACCTCCCGGAAGGCGTCCCGTAGCTCCCGGACACCGATCATGTCTGCCGTCTCTGCCAGCAGCTTGGGGCCCATCAGCTCCACGAAGTCTTCAAAGTCCACCTTTCCGCCACCTGGGGGTCCCGTCCATTACAGACCCAGGGCATCAGAGACCCCTGCCCCTCCCTGGCCCTCCCTCCTCTGCCCTC... |
Task1_train_16141 | Here’s a variant in NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 4 | ATGAAGACCGGATTTTCACCAACCTGTACGGCCGCCATGACTGGAGGTGAGACAGTGCCCTTAGTGTGTTGGGTCCCGGAGCAAGGTGTCCCCTTCATTGCCTTCCCTATTCTGTCCAGGCTGAAAGGTTCCCTGAGTCGAGGTGACTGGTACAAGACAAAGGAGATCCTGCTGAAGGGGCCCGACTGGATCCTGGGCGAGATCAAGACATCGGGTTTGAGGGGCCGTGGAGGCGCTGGCTTCCCCACTGGCCTCAAGTGGAGCTTCATGAATAAGCCCTCAGATGGCAGGTGTGTGTGTGGGGGCGGGGCAGATGTGGC... | ATGAAGACCGGATTTTCACCAACCTGTACGGCCGCCATGACTGGAGGTGAGACAGTGCCCTTAGTGTGTTGGGTCCCGGAGCAAGGTGTCCCCTTCATTGCCTTCCCTATTCTGTCCAGGCTGAAAGGTTCCCTGAGTCGAGGTGACTGGTACAAGACAAAGGAGATCCTGCTGAAGGGGCCCGACTGGATCCTGGGCGAGATCAAGACATCGGGTTTGAGGGGCCGTGGAGGCGCTGGCTTCCCCACTGGCCTCAAGTGGAGCTTCATGAATAAGCCCTCAGATGGCAGGTGTGTGTGTGGGGGCGGGGCAGATGTGGC... |
Task1_train_16142 | The gene NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | ACCGGATTTTCACCAACCTGTACGGCCGCCATGACTGGAGGTGAGACAGTGCCCTTAGTGTGTTGGGTCCCGGAGCAAGGTGTCCCCTTCATTGCCTTCCCTATTCTGTCCAGGCTGAAAGGTTCCCTGAGTCGAGGTGACTGGTACAAGACAAAGGAGATCCTGCTGAAGGGGCCCGACTGGATCCTGGGCGAGATCAAGACATCGGGTTTGAGGGGCCGTGGAGGCGCTGGCTTCCCCACTGGCCTCAAGTGGAGCTTCATGAATAAGCCCTCAGATGGCAGGTGTGTGTGTGGGGGCGGGGCAGATGTGGCTGTGGG... | ACCGGATTTTCACCAACCTGTACGGCCGCCATGACTGGAGGTGAGACAGTGCCCTTAGTGTGTTGGGTCCCGGAGCAAGGTGTCCCCTTCATTGCCTTCCCTATTCTGTCCAGGCTGAAAGGTTCCCTGAGTCGAGGTGACTGGTACAAGACAAAGGAGATCCTGCTGAAGGGGCCCGACTGGATCCTGGGCGAGATCAAGACATCGGGTTTGAGGGGCCGTGGAGGCGCTGGCTTCCCCACTGGCCTCAAGTGGAGCTTCATGAATAAGCCCTCAGATGGCAGGTGTGTGTGTGGGGGCGGGGCAGATGTGGCTGTGGG... |
Task1_train_16143 | This variant impacts the gene NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Leigh syndrome | GGCCGCCATGACTGGAGGTGAGACAGTGCCCTTAGTGTGTTGGGTCCCGGAGCAAGGTGTCCCCTTCATTGCCTTCCCTATTCTGTCCAGGCTGAAAGGTTCCCTGAGTCGAGGTGACTGGTACAAGACAAAGGAGATCCTGCTGAAGGGGCCCGACTGGATCCTGGGCGAGATCAAGACATCGGGTTTGAGGGGCCGTGGAGGCGCTGGCTTCCCCACTGGCCTCAAGTGGAGCTTCATGAATAAGCCCTCAGATGGCAGGTGTGTGTGTGGGGGCGGGGCAGATGTGGCTGTGGGAGAGACCTTGGGGGTGGCTGGGG... | GGCCGCCATGACTGGAGGTGAGACAGTGCCCTTAGTGTGTTGGGTCCCGGAGCAAGGTGTCCCCTTCATTGCCTTCCCTATTCTGTCCAGGCTGAAAGGTTCCCTGAGTCGAGGTGACTGGTACAAGACAAAGGAGATCCTGCTGAAGGGGCCCGACTGGATCCTGGGCGAGATCAAGACATCGGGTTTGAGGGGCCGTGGAGGCGCTGGCTTCCCCACTGGCCTCAAGTGGAGCTTCATGAATAAGCCCTCAGATGGCAGGTGTGTGTGTGGGGGCGGGGCAGATGTGGCTGTGGGAGAGACCTTGGGGGTGGCTGGGG... |
Task1_train_16144 | A change on Chromosome 11 affects gene NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 4 | TTTCCCAGCCTTTGTGAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGCAAATGATAAATGTCACCTGCTTTACCTCCTTTTGATGGTAGAGCTTGAGGAATGCTCTTTGTCACCAAGAGTAGAATCTGGCTCTCAGGGGCAGACACAAGGAGAGATGTTTGGATGAGCTGAATGAAGACCTTTCTTGTGGTCATAGCCACCCAAAGACAGAATAGGCAGTGAGCTCCCTGTCATTGGTGGTGAGCAAG... | TTTCCCAGCCTTTGTGAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGCAAATGATAAATGTCACCTGCTTTACCTCCTTTTGATGGTAGAGCTTGAGGAATGCTCTTTGTCACCAAGAGTAGAATCTGGCTCTCAGGGGCAGACACAAGGAGAGATGTTTGGATGAGCTGAATGAAGACCTTTCTTGTGGTCATAGCCACCCAAAGACAGAATAGGCAGTGAGCTCCCTGTCATTGGTGGTGAGCAAG... |
Task1_train_16145 | Given this variant in gene NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Leigh syndrome | TTTCCCAGCCTTTGTGAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGCAAATGATAAATGTCACCTGCTTTACCTCCTTTTGATGGTAGAGCTTGAGGAATGCTCTTTGTCACCAAGAGTAGAATCTGGCTCTCAGGGGCAGACACAAGGAGAGATGTTTGGATGAGCTGAATGAAGACCTTTCTTGTGGTCATAGCCACCCAAAGACAGAATAGGCAGTGAGCTCCCTGTCATTGGTGGTGAGCAAG... | TTTCCCAGCCTTTGTGAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGCAAATGATAAATGTCACCTGCTTTACCTCCTTTTGATGGTAGAGCTTGAGGAATGCTCTTTGTCACCAAGAGTAGAATCTGGCTCTCAGGGGCAGACACAAGGAGAGATGTTTGGATGAGCTGAATGAAGACCTTTCTTGTGGTCATAGCCACCCAAAGACAGAATAGGCAGTGAGCTCCCTGTCATTGGTGGTGAGCAAG... |
Task1_train_16146 | Here is a variant affecting LOC126861242, NDUFV1 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:67379204-67380403| NADH:ubiquinone oxidoreductase core subunit V1) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | CTAAGTGGAACTATGTGTTTAGCAAGAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAG... | CTAAGTGGAACTATGTGTTTAGCAAGAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAG... |
Task1_train_16147 | Consider a variant on Chromosome 11 in gene LOC126861242, NDUFV1 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:67379204-67380403| NADH:ubiquinone oxidoreductase core subunit V1). Determine its clinical classification and disease relevance. | Pathogenic; not provided | GAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTA... | GAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTA... |
Task1_train_16148 | A mutation found in NDUFS8 (NADH:ubiquinone oxidoreductase core subunit S8) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 2 | CACTGGGAAGGTGGGGAAGGTGCTGGGTTGGGTCCCTGGAACTGCAGTCAGTGATCCAAAGGAGTGGGCCTGTTAGGGGGTTCACAGGTCGTGGGATGAGCTCTTATGAGCGCCGGCTAAGTGCCGGGCTCTGGGGTGCCCTTGGCATGTACGGGCTCCCCTAATTCCCAAGACCAACCGCCCCCAACCCACTTCATAGGTGAGAAGACGGAGGTCAGGTCACATCATCTGCCCAAGGTCACGCGGCAGGCTGGGGGACAGTTCCAGGAGGGCCTTGAAGCTGGGGAAAGGAATGTGGTACCGAGGACTGTTCAGGCCTT... | CACTGGGAAGGTGGGGAAGGTGCTGGGTTGGGTCCCTGGAACTGCAGTCAGTGATCCAAAGGAGTGGGCCTGTTAGGGGGTTCACAGGTCGTGGGATGAGCTCTTATGAGCGCCGGCTAAGTGCCGGGCTCTGGGGTGCCCTTGGCATGTACGGGCTCCCCTAATTCCCAAGACCAACCGCCCCCAACCCACTTCATAGGTGAGAAGACGGAGGTCAGGTCACATCATCTGCCCAAGGTCACGCGGCAGGCTGGGGGACAGTTCCAGGAGGGCCTTGAAGCTGGGGAAAGGAATGTGGTACCGAGGACTGTTCAGGCCTT... |
Task1_train_16149 | With a mutation on Chromosome 11 in gene NDUFS8 (NADH:ubiquinone oxidoreductase core subunit S8), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 2 | TCCCAAGACCAACCGCCCCCAACCCACTTCATAGGTGAGAAGACGGAGGTCAGGTCACATCATCTGCCCAAGGTCACGCGGCAGGCTGGGGGACAGTTCCAGGAGGGCCTTGAAGCTGGGGAAAGGAATGTGGTACCGAGGACTGTTCAGGCCTTGAAGAGTTTCCAGCAGGGCAGGGCTGGGTTCCGATCCTCGGCCCACCTCCTTATCGTGTGACTTCCGACAAGTCACTTTTTTATCTTTTTTTTGAGACAAGGTCTCACTCTGTCGCCCAGGTTGGAGGGCAGTGGTGCAGTCTGGGCTCACTGCAACTTCTGCCT... | TCCCAAGACCAACCGCCCCCAACCCACTTCATAGGTGAGAAGACGGAGGTCAGGTCACATCATCTGCCCAAGGTCACGCGGCAGGCTGGGGGACAGTTCCAGGAGGGCCTTGAAGCTGGGGAAAGGAATGTGGTACCGAGGACTGTTCAGGCCTTGAAGAGTTTCCAGCAGGGCAGGGCTGGGTTCCGATCCTCGGCCCACCTCCTTATCGTGTGACTTCCGACAAGTCACTTTTTTATCTTTTTTTTGAGACAAGGTCTCACTCTGTCGCCCAGGTTGGAGGGCAGTGGTGCAGTCTGGGCTCACTGCAACTTCTGCCT... |
Task1_train_16150 | This mutation occurs in NDUFS8 (NADH:ubiquinone oxidoreductase core subunit S8) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 2 | TTGGGCTGTGCCCCCACTTGCTGTGTAGCTTTGGGGAGCCCCTCAACCTCTCGGAACCTTGTTTTTCTCATCCATCAAATGGAGAGAAGTAGATTTAAGGCACAGGATTGCACCCAACAGTGTAGGCATTCTTGGCGATGTTGCAGGTTCGGCTCCAGACCATCGGGGTAAACTGAGTCACACAGCTGTTTTGGTTTTCCAGTGCATTTAAAAGTTAGATTTAGACCGGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGAGAAGCCGAGGTGGGCGGATCACTTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAA... | TTGGGCTGTGCCCCCACTTGCTGTGTAGCTTTGGGGAGCCCCTCAACCTCTCGGAACCTTGTTTTTCTCATCCATCAAATGGAGAGAAGTAGATTTAAGGCACAGGATTGCACCCAACAGTGTAGGCATTCTTGGCGATGTTGCAGGTTCGGCTCCAGACCATCGGGGTAAACTGAGTCACACAGCTGTTTTGGTTTTCCAGTGCATTTAAAAGTTAGATTTAGACCGGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGAGAAGCCGAGGTGGGCGGATCACTTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAA... |
Task1_train_16151 | A variant affecting Chromosome 11, within the gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive osteopetrosis 1 | GCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTC... | GCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTC... |
Task1_train_16152 | Consider this mutation in KMT5B (lysine methyltransferase 5B) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Intellectual disability, autosomal dominant 51 | TCACCAGTGAGAAAACAGAGGCTCATGAAAGAGAACTAATCTGCTCAAGGAAAATGACTATACCTGCAGTTCTAAACCAGGGAAAGAGCTGTTTCGGTGTTGGTTTGGAATCCTCAGTATGTGGTTAGGTGTTTTCAGGACCGCCTCCAAAAACTTCATTATATATATTTACTCTATTCATTCATTTACCAAATATTTATCAAGGACTTACTATGCACCAGGGTACTGTTCTGTATTCTGGGGATATAGCGGAAAATGAAACAGATACAAGCCCCTGCCTTCATGGAGCTCATATTCTAATGGGAAAATAACCAGAAACC... | TCACCAGTGAGAAAACAGAGGCTCATGAAAGAGAACTAATCTGCTCAAGGAAAATGACTATACCTGCAGTTCTAAACCAGGGAAAGAGCTGTTTCGGTGTTGGTTTGGAATCCTCAGTATGTGGTTAGGTGTTTTCAGGACCGCCTCCAAAAACTTCATTATATATATTTACTCTATTCATTCATTTACCAAATATTTATCAAGGACTTACTATGCACCAGGGTACTGTTCTGTATTCTGGGGATATAGCGGAAAATGAAACAGATACAAGCCCCTGCCTTCATGGAGCTCATATTCTAATGGGAAAATAACCAGAAACC... |
Task1_train_16153 | This genomic variant is located on Chromosome 11, within the KMT5B (lysine methyltransferase 5B) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Intellectual disability, autosomal dominant 51 | CATGATAGGAAAGAAGATACAGTAGTATATTCTCTTTCATCTGTAACTTTTATCCCTTTTAGCTGGGCTCAACTCTGACTTAATTTTGAGATAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTATAGCCTCTGTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCACCCGAGTAGCTAGGACTACAGGTGTGTGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCT... | CATGATAGGAAAGAAGATACAGTAGTATATTCTCTTTCATCTGTAACTTTTATCCCTTTTAGCTGGGCTCAACTCTGACTTAATTTTGAGATAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTATAGCCTCTGTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCACCCGAGTAGCTAGGACTACAGGTGTGTGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCT... |
Task1_train_16154 | A genomic change on Chromosome 11 affects LRP5 (LDL receptor related protein 5). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Osteogenesis imperfecta | TAGGGATATATTAAGCCTGTTTTGATGTGTTTATTGGCCATTTATATGTCATCTTTGGAGAAATGTCTGTTCAAGTTGTTTGCCCATTTTTGAGTTGGCTTAGTTGTTTTCTCATTGTTGAGTTTTAGGAGTTCTCTGTATTTCATGGATATTAATCTCTTAGTAGATCTATGATTTGGAAATATTTTCTCTCATTCTGTGGGTTGCCTTTTTACTCTCTCGATAGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGT... | TAGGGATATATTAAGCCTGTTTTGATGTGTTTATTGGCCATTTATATGTCATCTTTGGAGAAATGTCTGTTCAAGTTGTTTGCCCATTTTTGAGTTGGCTTAGTTGTTTTCTCATTGTTGAGTTTTAGGAGTTCTCTGTATTTCATGGATATTAATCTCTTAGTAGATCTATGATTTGGAAATATTTTCTCTCATTCTGTGGGTTGCCTTTTTACTCTCTCGATAGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGT... |
Task1_train_16155 | Here is a genetic alteration in LRP5 (LDL receptor related protein 5) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Osteogenesis imperfecta | AGGGATATATTAAGCCTGTTTTGATGTGTTTATTGGCCATTTATATGTCATCTTTGGAGAAATGTCTGTTCAAGTTGTTTGCCCATTTTTGAGTTGGCTTAGTTGTTTTCTCATTGTTGAGTTTTAGGAGTTCTCTGTATTTCATGGATATTAATCTCTTAGTAGATCTATGATTTGGAAATATTTTCTCTCATTCTGTGGGTTGCCTTTTTACTCTCTCGATAGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGTC... | AGGGATATATTAAGCCTGTTTTGATGTGTTTATTGGCCATTTATATGTCATCTTTGGAGAAATGTCTGTTCAAGTTGTTTGCCCATTTTTGAGTTGGCTTAGTTGTTTTCTCATTGTTGAGTTTTAGGAGTTCTCTGTATTTCATGGATATTAATCTCTTAGTAGATCTATGATTTGGAAATATTTTCTCTCATTCTGTGGGTTGCCTTTTTACTCTCTCGATAGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGTC... |
Task1_train_16156 | The gene LRP5 (LDL receptor related protein 5) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Exudative vitreoretinopathy 4, autosomal dominant | AGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGTCCCTCGTTGCCACAAAGAACTGTAGACCTAAGATGATGACAGCACGGGTGGGGCGGCGGAGGCGCCGCTGTCATTTTCCTGGCCTCAGGTCCTCTGTGTGTCCTCCCATCCTGTGGAGCATGTCTCCTGGGAATGGGAGGGGCCAGGATTTGAGCCAGTGCTTGTCTTGGCAGGGAGGCCTGTGCTCGGAACCATCTACCCCACTGCGCTGGGGTCTCCTGGGC... | AGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGTCCCTCGTTGCCACAAAGAACTGTAGACCTAAGATGATGACAGCACGGGTGGGGCGGCGGAGGCGCCGCTGTCATTTTCCTGGCCTCAGGTCCTCTGTGTGTCCTCCCATCCTGTGGAGCATGTCTCCTGGGAATGGGAGGGGCCAGGATTTGAGCCAGTGCTTGTCTTGGCAGGGAGGCCTGTGCTCGGAACCATCTACCCCACTGCGCTGGGGTCTCCTGGGC... |
Task1_train_16157 | This mutation occurs in LRP5 (LDL receptor related protein 5) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Osteoporosis with pseudoglioma | AGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGTCCCTCGTTGCCACAAAGAACTGTAGACCTAAGATGATGACAGCACGGGTGGGGCGGCGGAGGCGCCGCTGTCATTTTCCTGGCCTCAGGTCCTCTGTGTGTCCTCCCATCCTGTGGAGCATGTCTCCTGGGAATGGGAGGGGCCAGGATTTGAGCCAGTGCTTGTCTTGGCAGGGAGGCCTGTGCTCGGAACCATCTACCCCACTGCGCTGGGGTCTCCTGGGC... | AGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGTCCCTCGTTGCCACAAAGAACTGTAGACCTAAGATGATGACAGCACGGGTGGGGCGGCGGAGGCGCCGCTGTCATTTTCCTGGCCTCAGGTCCTCTGTGTGTCCTCCCATCCTGTGGAGCATGTCTCCTGGGAATGGGAGGGGCCAGGATTTGAGCCAGTGCTTGTCTTGGCAGGGAGGCCTGTGCTCGGAACCATCTACCCCACTGCGCTGGGGTCTCCTGGGC... |
Task1_train_16158 | Here is a genetic alteration in LRP5 (LDL receptor related protein 5) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Inborn genetic diseases | ACACTGGGCACTGGTGGGGGTGGGACCTGCCATCCCAGACCTGGTGTCTGCTCACTTTGTCTTGGTTCATTGGCCAGAGATCACGTAAGGGCGCCCTGAGGATGTGCTTGTTTCTCATGGATGGGTGATGCTTGTCTCTTGGGAACATGGAGAAGCAAAGCCACGTCGCCCACAGACCTACCCAGGAACAGCTGCAGCTGCAGGTTCAGGGTCCATCCCAGCCATGGGTTTTATTCTTTTTTTTTTGAGACGGAGTGTTGCTGTCTCCCAGGCTGAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCC... | ACACTGGGCACTGGTGGGGGTGGGACCTGCCATCCCAGACCTGGTGTCTGCTCACTTTGTCTTGGTTCATTGGCCAGAGATCACGTAAGGGCGCCCTGAGGATGTGCTTGTTTCTCATGGATGGGTGATGCTTGTCTCTTGGGAACATGGAGAAGCAAAGCCACGTCGCCCACAGACCTACCCAGGAACAGCTGCAGCTGCAGGTTCAGGGTCCATCCCAGCCATGGGTTTTATTCTTTTTTTTTTGAGACGGAGTGTTGCTGTCTCCCAGGCTGAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCC... |
Task1_train_16159 | Chromosome 11 houses a mutation in gene LRP5 (LDL receptor related protein 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal dominant osteopetrosis 1 | TGGTGGGGGTGGGACCTGCCATCCCAGACCTGGTGTCTGCTCACTTTGTCTTGGTTCATTGGCCAGAGATCACGTAAGGGCGCCCTGAGGATGTGCTTGTTTCTCATGGATGGGTGATGCTTGTCTCTTGGGAACATGGAGAAGCAAAGCCACGTCGCCCACAGACCTACCCAGGAACAGCTGCAGCTGCAGGTTCAGGGTCCATCCCAGCCATGGGTTTTATTCTTTTTTTTTTGAGACGGAGTGTTGCTGTCTCCCAGGCTGAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC... | TGGTGGGGGTGGGACCTGCCATCCCAGACCTGGTGTCTGCTCACTTTGTCTTGGTTCATTGGCCAGAGATCACGTAAGGGCGCCCTGAGGATGTGCTTGTTTCTCATGGATGGGTGATGCTTGTCTCTTGGGAACATGGAGAAGCAAAGCCACGTCGCCCACAGACCTACCCAGGAACAGCTGCAGCTGCAGGTTCAGGGTCCATCCCAGCCATGGGTTTTATTCTTTTTTTTTTGAGACGGAGTGTTGCTGTCTCCCAGGCTGAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC... |
Task1_train_16160 | Consider a variant on Chromosome 11 in gene LRP5 (LDL receptor related protein 5). Determine its clinical classification and disease relevance. | Pathogenic; not provided | GGGAACATGGAGAAGCAAAGCCACGTCGCCCACAGACCTACCCAGGAACAGCTGCAGCTGCAGGTTCAGGGTCCATCCCAGCCATGGGTTTTATTCTTTTTTTTTTGAGACGGAGTGTTGCTGTCTCCCAGGCTGAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGACTACAGGTGTCCGCCACCATGCCCGGCTAATTTTTTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC... | GGGAACATGGAGAAGCAAAGCCACGTCGCCCACAGACCTACCCAGGAACAGCTGCAGCTGCAGGTTCAGGGTCCATCCCAGCCATGGGTTTTATTCTTTTTTTTTTGAGACGGAGTGTTGCTGTCTCCCAGGCTGAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGACTACAGGTGTCCGCCACCATGCCCGGCTAATTTTTTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC... |
Task1_train_16161 | This variant lies on Chromosome 11 and affects the gene LRP5 (LDL receptor related protein 5). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Worth disease | GGAACATGGAGAAGCAAAGCCACGTCGCCCACAGACCTACCCAGGAACAGCTGCAGCTGCAGGTTCAGGGTCCATCCCAGCCATGGGTTTTATTCTTTTTTTTTTGAGACGGAGTGTTGCTGTCTCCCAGGCTGAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGACTACAGGTGTCCGCCACCATGCCCGGCTAATTTTTTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT... | GGAACATGGAGAAGCAAAGCCACGTCGCCCACAGACCTACCCAGGAACAGCTGCAGCTGCAGGTTCAGGGTCCATCCCAGCCATGGGTTTTATTCTTTTTTTTTTGAGACGGAGTGTTGCTGTCTCCCAGGCTGAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGACTACAGGTGTCCGCCACCATGCCCGGCTAATTTTTTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT... |
Task1_train_16162 | This mutation occurs in LRP5 (LDL receptor related protein 5) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Osteoporosis with pseudoglioma | GCTTAGGAGATTGAGGCTGCAGTGAGCCATGATCACACCACCGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAGAAAACAAACAAAAAAGACAACATTGTGGAAAACAGTTTGTTGATTCCTTGAGACGTAAACATTGATTTACGTATGACCCAGCAATTCCGCTCCTAGCTGTATACTCTTAAGAATCGAAAACAGGTCTTCACACAAAATGTGAATGGACAGTAATGTCCGTAGCAGCACTGTGCACAACAGCCGAGGGTGGAAATGACACAAAGGTCCCCCAGTGGGTGAATGGATGCACAGATTGGGTT... | GCTTAGGAGATTGAGGCTGCAGTGAGCCATGATCACACCACCGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAGAAAACAAACAAAAAAGACAACATTGTGGAAAACAGTTTGTTGATTCCTTGAGACGTAAACATTGATTTACGTATGACCCAGCAATTCCGCTCCTAGCTGTATACTCTTAAGAATCGAAAACAGGTCTTCACACAAAATGTGAATGGACAGTAATGTCCGTAGCAGCACTGTGCACAACAGCCGAGGGTGGAAATGACACAAAGGTCCCCCAGTGGGTGAATGGATGCACAGATTGGGTT... |
Task1_train_16163 | Gene LRP5 (LDL receptor related protein 5) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Autosomal dominant osteopetrosis 1 | CATGATCACACCACCGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAGAAAACAAACAAAAAAGACAACATTGTGGAAAACAGTTTGTTGATTCCTTGAGACGTAAACATTGATTTACGTATGACCCAGCAATTCCGCTCCTAGCTGTATACTCTTAAGAATCGAAAACAGGTCTTCACACAAAATGTGAATGGACAGTAATGTCCGTAGCAGCACTGTGCACAACAGCCGAGGGTGGAAATGACACAAAGGTCCCCCAGTGGGTGAATGGATGCACAGATTGGGTTCTGTCTGCACACTGGAATATGGTTCAC... | CATGATCACACCACCGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAGAAAACAAACAAAAAAGACAACATTGTGGAAAACAGTTTGTTGATTCCTTGAGACGTAAACATTGATTTACGTATGACCCAGCAATTCCGCTCCTAGCTGTATACTCTTAAGAATCGAAAACAGGTCTTCACACAAAATGTGAATGGACAGTAATGTCCGTAGCAGCACTGTGCACAACAGCCGAGGGTGGAAATGACACAAAGGTCCCCCAGTGGGTGAATGGATGCACAGATTGGGTTCTGTCTGCACACTGGAATATGGTTCAC... |
Task1_train_16164 | Here is a mutation in LRP5 (LDL receptor related protein 5) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | TTGTGACCTGGGCCCCTGTGCAGGGGCATGGCCACAGGATGCTGGGAGGGGTCTCTGACCCTGACCTTCTTGGCTCTGTGCATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGG... | TTGTGACCTGGGCCCCTGTGCAGGGGCATGGCCACAGGATGCTGGGAGGGGTCTCTGACCCTGACCTTCTTGGCTCTGTGCATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGG... |
Task1_train_16165 | A mutation on Chromosome 11 affecting LRP5 (LDL receptor related protein 5) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | CTGACCCTGACCTTCTTGGCTCTGTGCATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATC... | CTGACCCTGACCTTCTTGGCTCTGTGCATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATC... |
Task1_train_16166 | Gene LRP5 (LDL receptor related protein 5) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Bone mineral density quantitative trait locus 1 | CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGA... | CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGA... |
Task1_train_16167 | A mutation in LRP5 (LDL receptor related protein 5), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Exudative vitreoretinopathy 4 | CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGA... | CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGA... |
Task1_train_16168 | This sequence variant lies in LRP5 (LDL receptor related protein 5) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Worth disease | CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGA... | CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGA... |
Task1_train_16169 | Consider this mutation in LRP5 (LDL receptor related protein 5) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal dominant osteopetrosis 1 | CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGA... | CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGA... |
Task1_train_16170 | This variant affects the gene LRP5 (LDL receptor related protein 5) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Polycystic liver disease 4 with or without kidney cysts | CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGA... | CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGA... |
Task1_train_16171 | Gene LRP5 (LDL receptor related protein 5) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Osteoporosis with pseudoglioma | CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGA... | CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGA... |
Task1_train_16172 | A variant was discovered in gene LRP5 (LDL receptor related protein 5), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Worth disease | CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTT... | CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTT... |
Task1_train_16173 | Gene LRP5 (LDL receptor related protein 5) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Bone mineral density quantitative trait locus 1 | CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTT... | CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTT... |
Task1_train_16174 | Here is a genetic alteration in LRP5 (LDL receptor related protein 5) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal dominant osteopetrosis 1 | CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTT... | CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTT... |
Task1_train_16175 | This gene mutation involves LRP5 (LDL receptor related protein 5) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Osteoporosis with pseudoglioma | CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTT... | CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTT... |
Task1_train_16176 | Located on Chromosome 11, this mutation impacts LRP5 (LDL receptor related protein 5). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Exudative vitreoretinopathy 4 | CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTT... | CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTT... |
Task1_train_16177 | Consider this mutation in LRP5 (LDL receptor related protein 5) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Polycystic liver disease 4 with or without kidney cysts | CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTT... | CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTT... |
Task1_train_16178 | Gene LRP5 (LDL receptor related protein 5) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCG... | TTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCG... |
Task1_train_16179 | This gene mutation involves LRP5 (LDL receptor related protein 5) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | GGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGT... | GGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGT... |
Task1_train_16180 | This gene mutation involves LRP5 (LDL receptor related protein 5) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TGCTGTTTTGTTGTTTCTTCTGTGACGTTAGCCACTGGGCTAATCTGAGCCCCTCAGTTACAGGTGGAGAAACTGAGACCCATGGGGGTGCAAGGACTTGCCGAGGACCCAGAGCCCCTTGGGGGCAGAGCTGAGGCGGGGCCTGGCTTTGGGTCCCAGAGCTTCCAGTCCCCTTCCCGCTCTCCTAACAGCTTTTTTTTTTGAGACAAGATCTCACCCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAATCTTCGCTAGCTGCGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGG... | TGCTGTTTTGTTGTTTCTTCTGTGACGTTAGCCACTGGGCTAATCTGAGCCCCTCAGTTACAGGTGGAGAAACTGAGACCCATGGGGGTGCAAGGACTTGCCGAGGACCCAGAGCCCCTTGGGGGCAGAGCTGAGGCGGGGCCTGGCTTTGGGTCCCAGAGCTTCCAGTCCCCTTCCCGCTCTCCTAACAGCTTTTTTTTTTGAGACAAGATCTCACCCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAATCTTCGCTAGCTGCGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGG... |
Task1_train_16181 | This genomic variant is located on Chromosome 11, within the LRP5 (LDL receptor related protein 5) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Retinal dystrophy | CAGTTACAGGTGGAGAAACTGAGACCCATGGGGGTGCAAGGACTTGCCGAGGACCCAGAGCCCCTTGGGGGCAGAGCTGAGGCGGGGCCTGGCTTTGGGTCCCAGAGCTTCCAGTCCCCTTCCCGCTCTCCTAACAGCTTTTTTTTTTGAGACAAGATCTCACCCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAATCTTCGCTAGCTGCGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTGTGCCGCCATGCCCAGCTCGTTTTTTTTTGTACTTTTAGTAGA... | CAGTTACAGGTGGAGAAACTGAGACCCATGGGGGTGCAAGGACTTGCCGAGGACCCAGAGCCCCTTGGGGGCAGAGCTGAGGCGGGGCCTGGCTTTGGGTCCCAGAGCTTCCAGTCCCCTTCCCGCTCTCCTAACAGCTTTTTTTTTTGAGACAAGATCTCACCCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAATCTTCGCTAGCTGCGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTGTGCCGCCATGCCCAGCTCGTTTTTTTTTGTACTTTTAGTAGA... |
Task1_train_16182 | This mutation occurs in LRP5 (LDL receptor related protein 5) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Inborn genetic diseases | CAGTTACAGGTGGAGAAACTGAGACCCATGGGGGTGCAAGGACTTGCCGAGGACCCAGAGCCCCTTGGGGGCAGAGCTGAGGCGGGGCCTGGCTTTGGGTCCCAGAGCTTCCAGTCCCCTTCCCGCTCTCCTAACAGCTTTTTTTTTTGAGACAAGATCTCACCCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAATCTTCGCTAGCTGCGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTGTGCCGCCATGCCCAGCTCGTTTTTTTTTGTACTTTTAGTAGA... | CAGTTACAGGTGGAGAAACTGAGACCCATGGGGGTGCAAGGACTTGCCGAGGACCCAGAGCCCCTTGGGGGCAGAGCTGAGGCGGGGCCTGGCTTTGGGTCCCAGAGCTTCCAGTCCCCTTCCCGCTCTCCTAACAGCTTTTTTTTTTGAGACAAGATCTCACCCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAATCTTCGCTAGCTGCGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTGTGCCGCCATGCCCAGCTCGTTTTTTTTTGTACTTTTAGTAGA... |
Task1_train_16183 | Assess the clinical impact of this variant on gene LRP5 (LDL receptor related protein 5), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Retinal dystrophy | GAGGGAGCAGGTTGGGGCAGAAAGCACAGCCCCGTGGAAGCCTGGAGCTGAGGCAGTGTGGGCGACCCCTGGAGCAGTGAGTGCTTCCTTCATGGCCTTCATCGCACCCTGCAGTCCTCATGTAGGGGATGCAATCCATGAATTTAGTTTTCCCAGCCTCCTTTAAAAACGCGTTCATGCTGGGGCCGGGGCAGTGCAGTGGCTCACATCTGAAATCCCACCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT... | GAGGGAGCAGGTTGGGGCAGAAAGCACAGCCCCGTGGAAGCCTGGAGCTGAGGCAGTGTGGGCGACCCCTGGAGCAGTGAGTGCTTCCTTCATGGCCTTCATCGCACCCTGCAGTCCTCATGTAGGGGATGCAATCCATGAATTTAGTTTTCCCAGCCTCCTTTAAAAACGCGTTCATGCTGGGGCCGGGGCAGTGCAGTGGCTCACATCTGAAATCCCACCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT... |
Task1_train_16184 | A variant was discovered on Chromosome 11, affecting LRP5 (LDL receptor related protein 5). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | CTACAATGTTTGCTCATTTATTATTCTATGATTTGTTTTCTGCTTTTTGTTGTTGTTGTTGTTGTTGAGATAGGGTTTCCCTCTGTCACTCAGGCTGGAGTGCAGTGGTGTAATCTCAGCTCACTGCAGCCTCGACCTCCTGGGCTCTAGTGATCCTCTCATCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACACACCACCACTCCTGGCTGATTTTTTTTTTTTTTTTTTTTTTTTTGGGGAGACAGGGTTTCCGCATGTTGCCCAGGCTGGTTTCAAACTCCTAGGCTCAAACACCCACCTCAGCCTCCCAAAGTG... | CTACAATGTTTGCTCATTTATTATTCTATGATTTGTTTTCTGCTTTTTGTTGTTGTTGTTGTTGTTGAGATAGGGTTTCCCTCTGTCACTCAGGCTGGAGTGCAGTGGTGTAATCTCAGCTCACTGCAGCCTCGACCTCCTGGGCTCTAGTGATCCTCTCATCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACACACCACCACTCCTGGCTGATTTTTTTTTTTTTTTTTTTTTTTTTGGGGAGACAGGGTTTCCGCATGTTGCCCAGGCTGGTTTCAAACTCCTAGGCTCAAACACCCACCTCAGCCTCCCAAAGTG... |
Task1_train_16185 | A mutation on Chromosome 11 affecting LRP5 (LDL receptor related protein 5) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | CTCCCAGCCTCGCCGCACATACCCTGTGGCCTGCAAGTTCCCCAACCTGGCAGGAGCTGTGGCCACACCCACGACTGCCCAGCAGCCTCACCCTCTGCTGTGGGAGTTGTCCCCGTCCACCCCTGGGTGCCTTTGCTGCAGTTATGTCGGGAGAGGCTCTGGTGACAGCTGTTTCCTGTGCACCTGCTGGGCACTAGGTCCCAGCTAATCCCTGTGCCAGGACTCTAATTTCACCCTAACACACATGGTGGTTTTCATTGCTGGGGAAGCTGAGGCCTGAGCACATGACTTGCCTTAGGTCACATAGCTGGTGAGTTCAG... | CTCCCAGCCTCGCCGCACATACCCTGTGGCCTGCAAGTTCCCCAACCTGGCAGGAGCTGTGGCCACACCCACGACTGCCCAGCAGCCTCACCCTCTGCTGTGGGAGTTGTCCCCGTCCACCCCTGGGTGCCTTTGCTGCAGTTATGTCGGGAGAGGCTCTGGTGACAGCTGTTTCCTGTGCACCTGCTGGGCACTAGGTCCCAGCTAATCCCTGTGCCAGGACTCTAATTTCACCCTAACACACATGGTGGTTTTCATTGCTGGGGAAGCTGAGGCCTGAGCACATGACTTGCCTTAGGTCACATAGCTGGTGAGTTCAG... |
Task1_train_16186 | A change on Chromosome 11 affects gene LRP5 (LDL receptor related protein 5). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | AGTCCTTCCAGCTCATTGACCATTGGAGAATTTTATGGAGGCTGTAGACTAGGGGCTGGTAAACTAAGGGCCCAGGGGCCAAATCCAGCCTGCCACCTACTTTTGTAAATAAAGTTTTCTTGGTGCACAGCCATGCCCATTCATTCATTTGCACAATGTCTGTGGCTGCTTTCATGCCAAAAGCAAGAGAACTGAGTGGTTATGCTGGAGACCTACGGCCTTCAAAGCCCCAGACCTCACGTCTGGCCCTTGACAGACAGAGCTTCCCCAGCCCTGCTGCGCATCCTGGCCCAGCATGTGCTGTGTGTGTGATTTCAGCT... | AGTCCTTCCAGCTCATTGACCATTGGAGAATTTTATGGAGGCTGTAGACTAGGGGCTGGTAAACTAAGGGCCCAGGGGCCAAATCCAGCCTGCCACCTACTTTTGTAAATAAAGTTTTCTTGGTGCACAGCCATGCCCATTCATTCATTTGCACAATGTCTGTGGCTGCTTTCATGCCAAAAGCAAGAGAACTGAGTGGTTATGCTGGAGACCTACGGCCTTCAAAGCCCCAGACCTCACGTCTGGCCCTTGACAGACAGAGCTTCCCCAGCCCTGCTGCGCATCCTGGCCCAGCATGTGCTGTGTGTGTGATTTCAGCT... |
Task1_train_16187 | This variant impacts the gene LRP5 (LDL receptor related protein 5) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Retinal dystrophy | TCATTGACCATTGGAGAATTTTATGGAGGCTGTAGACTAGGGGCTGGTAAACTAAGGGCCCAGGGGCCAAATCCAGCCTGCCACCTACTTTTGTAAATAAAGTTTTCTTGGTGCACAGCCATGCCCATTCATTCATTTGCACAATGTCTGTGGCTGCTTTCATGCCAAAAGCAAGAGAACTGAGTGGTTATGCTGGAGACCTACGGCCTTCAAAGCCCCAGACCTCACGTCTGGCCCTTGACAGACAGAGCTTCCCCAGCCCTGCTGCGCATCCTGGCCCAGCATGTGCTGTGTGTGTGATTTCAGCTTGCAGGAGCCGT... | TCATTGACCATTGGAGAATTTTATGGAGGCTGTAGACTAGGGGCTGGTAAACTAAGGGCCCAGGGGCCAAATCCAGCCTGCCACCTACTTTTGTAAATAAAGTTTTCTTGGTGCACAGCCATGCCCATTCATTCATTTGCACAATGTCTGTGGCTGCTTTCATGCCAAAAGCAAGAGAACTGAGTGGTTATGCTGGAGACCTACGGCCTTCAAAGCCCCAGACCTCACGTCTGGCCCTTGACAGACAGAGCTTCCCCAGCCCTGCTGCGCATCCTGGCCCAGCATGTGCTGTGTGTGTGATTTCAGCTTGCAGGAGCCGT... |
Task1_train_16188 | A sequence alteration has been identified in LRP5 (LDL receptor related protein 5) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Polycystic liver disease 4 with or without kidney cysts | TGAGCTGCTCTTCAAGTTGCTCCTATGGGGGTTACTTTTAAGCTGGGAAATGGCTGTGGCGTCGAGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAG... | TGAGCTGCTCTTCAAGTTGCTCCTATGGGGGTTACTTTTAAGCTGGGAAATGGCTGTGGCGTCGAGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAG... |
Task1_train_16189 | An alteration has been detected in LRP5 (LDL receptor related protein 5) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Exudative vitreoretinopathy 4 | AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAG... | AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAG... |
Task1_train_16190 | A variant has been detected on Chromosome 11 in LRP5 (LDL receptor related protein 5). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Polycystic liver disease 4 with or without kidney cysts | AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAG... | AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAG... |
Task1_train_16191 | A mutation in LRP5 (LDL receptor related protein 5), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Bone mineral density quantitative trait locus 1 | AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAG... | AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAG... |
Task1_train_16192 | This variant impacts the gene LRP5 (LDL receptor related protein 5) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Worth disease | AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAG... | AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAG... |
Task1_train_16193 | This alteration in LRP5 (LDL receptor related protein 5) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal dominant osteopetrosis 1 | AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAG... | AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAG... |
Task1_train_16194 | Given a variant located on Chromosome 11 and affecting LRP5 (LDL receptor related protein 5), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Osteoporosis with pseudoglioma | AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAG... | AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAG... |
Task1_train_16195 | Given a variant located on Chromosome 11 and affecting GAL (galanin and GMAP prepropeptide), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Familial temporal lobe epilepsy 8 | GGCCTTGTTCCTGTGGGATGTCTTTGCCTTGGGCACAAGGACAGCCTCTTGCTGCTGCTCTGCCCACCGCCCACCCCTTGGCGGCCTCTGGGAGTCTGGGCTGCTCTCCCTCTGGACCTAACCAGTTGCCCAATGGCTGGACCTGCTTAAAGCTCCCTCTTACAACTGGACCAGGCAGCCAGGGGAGGCACTGAGAGGCCGAGCTTCTGAGCTGGTGCCTGTGGATGCTCGACGGTCCCGCAGCTCCCACAATGGGATGGCCAAGCAGACCCTGAGATCCACAGCCCCCCTTTAGTGAAACAGGAGGGAGGTCGCTGGGC... | GGCCTTGTTCCTGTGGGATGTCTTTGCCTTGGGCACAAGGACAGCCTCTTGCTGCTGCTCTGCCCACCGCCCACCCCTTGGCGGCCTCTGGGAGTCTGGGCTGCTCTCCCTCTGGACCTAACCAGTTGCCCAATGGCTGGACCTGCTTAAAGCTCCCTCTTACAACTGGACCAGGCAGCCAGGGGAGGCACTGAGAGGCCGAGCTTCTGAGCTGGTGCCTGTGGATGCTCGACGGTCCCGCAGCTCCCACAATGGGATGGCCAAGCAGACCCTGAGATCCACAGCCCCCCTTTAGTGAAACAGGAGGGAGGTCGCTGGGC... |
Task1_train_16196 | This mutation is located in gene CPT1A (carnitine palmitoyltransferase 1A) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Carnitine palmitoyl transferase 1A deficiency | AGGAGGCTGAAGCTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGTGGCAGAGTGAGACCCTGTCTAAAACAAACAAACAAACAAACAACAAAAGAAAACCGCAGTGAACAAATAAACCCCAACTTCCTCTGTTAACAGCGACAGTGGCATGGGTTGCCAGGCTATGTACGACAAGGAAAGCAGAATATAAATAAGGGCAATGTGCCATGCTAGGGAGGAGGTCCCTTGTTCCATCCACAGAGGAAGCCGGGGGTCCCCTGCTCTGTATGCAGATTTCTTAGTGTGTACCCATTATTTTTAGTTCATCTTCC... | AGGAGGCTGAAGCTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGTGGCAGAGTGAGACCCTGTCTAAAACAAACAAACAAACAAACAACAAAAGAAAACCGCAGTGAACAAATAAACCCCAACTTCCTCTGTTAACAGCGACAGTGGCATGGGTTGCCAGGCTATGTACGACAAGGAAAGCAGAATATAAATAAGGGCAATGTGCCATGCTAGGGAGGAGGTCCCTTGTTCCATCCACAGAGGAAGCCGGGGGTCCCCTGCTCTGTATGCAGATTTCTTAGTGTGTACCCATTATTTTTAGTTCATCTTCC... |
Task1_train_16197 | Consider this mutation in CPT1A (carnitine palmitoyltransferase 1A) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Inborn genetic diseases | TGAACCGGGGAGGCAGAGGTGGCAGTGAGCTGAAATCGCACCACTGCACACCAGCCTGGGTGACAGAACAAGACGCCATCTCAAAAAAAAAAGTCAAAATTCAAAACATTCACAGAAGTTTAAAGAAAAAAGAAGGTCATACATTATGATGTCTTCACAAGTTTACTACTAATTTCTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCC... | TGAACCGGGGAGGCAGAGGTGGCAGTGAGCTGAAATCGCACCACTGCACACCAGCCTGGGTGACAGAACAAGACGCCATCTCAAAAAAAAAAGTCAAAATTCAAAACATTCACAGAAGTTTAAAGAAAAAAGAAGGTCATACATTATGATGTCTTCACAAGTTTACTACTAATTTCTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCC... |
Task1_train_16198 | Here’s a variant in CPT1A (carnitine palmitoyltransferase 1A) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Carnitine palmitoyl transferase 1A deficiency | TGAACCGGGGAGGCAGAGGTGGCAGTGAGCTGAAATCGCACCACTGCACACCAGCCTGGGTGACAGAACAAGACGCCATCTCAAAAAAAAAAGTCAAAATTCAAAACATTCACAGAAGTTTAAAGAAAAAAGAAGGTCATACATTATGATGTCTTCACAAGTTTACTACTAATTTCTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCC... | TGAACCGGGGAGGCAGAGGTGGCAGTGAGCTGAAATCGCACCACTGCACACCAGCCTGGGTGACAGAACAAGACGCCATCTCAAAAAAAAAAGTCAAAATTCAAAACATTCACAGAAGTTTAAAGAAAAAAGAAGGTCATACATTATGATGTCTTCACAAGTTTACTACTAATTTCTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCC... |
Task1_train_16199 | This sequence change occurs on Chromosome 11, altering CPT1A (carnitine palmitoyltransferase 1A). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Carnitine palmitoyl transferase 1A deficiency | CCATCTCAAAAAAAAAAGTCAAAATTCAAAACATTCACAGAAGTTTAAAGAAAAAAGAAGGTCATACATTATGATGTCTTCACAAGTTTACTACTAATTTCTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCAGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGTT... | CCATCTCAAAAAAAAAAGTCAAAATTCAAAACATTCACAGAAGTTTAAAGAAAAAAGAAGGTCATACATTATGATGTCTTCACAAGTTTACTACTAATTTCTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCAGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGTT... |
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