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_5900 | The gene CAV3, SSUH2 (caveolin 3| ssu-2 homolog) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Rippling muscle disease 2 | GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCC... | GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCC... |
Task1_train_5901 | A variant affecting Chromosome 3, within the gene CAV3, SSUH2 (caveolin 3| ssu-2 homolog), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Distal myopathy, Tateyama type | GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCC... | GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCC... |
Task1_train_5902 | The gene CAV3, SSUH2 (caveolin 3| ssu-2 homolog), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Long QT syndrome | GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCC... | GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCC... |
Task1_train_5903 | This sequence variant lies in CAV3, SSUH2 (caveolin 3| ssu-2 homolog) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Long QT syndrome 9 | GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCC... | GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCC... |
Task1_train_5904 | The gene CAV3, SSUH2 (caveolin 3| ssu-2 homolog), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Rippling muscle disease 2 | GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCC... | GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCC... |
Task1_train_5905 | Given a variant located on Chromosome 3 and affecting CAV3, SSUH2 (caveolin 3| ssu-2 homolog), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Elevated circulating creatine kinase concentration | GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCC... | GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCC... |
Task1_train_5906 | Chromosome 3 houses a mutation in gene CAV3, SSUH2 (caveolin 3| ssu-2 homolog). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Distal myopathy, Tateyama type | GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCC... | GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCC... |
Task1_train_5907 | A variant has been detected on Chromosome 3 in CAV3, SSUH2 (caveolin 3| ssu-2 homolog). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hypertrophic cardiomyopathy 1 | GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCC... | GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCC... |
Task1_train_5908 | This sequence variant lies in CAV3 (caveolin 3) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Rippling muscle disease 2 | TATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGT... | TATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGT... |
Task1_train_5909 | Gene CAV3 (caveolin 3) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Long QT syndrome | TAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGT... | TAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGT... |
Task1_train_5910 | With a mutation on Chromosome 3 in gene CAV3 (caveolin 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Long QT syndrome | TTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAA... | TTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAA... |
Task1_train_5911 | Here is a genetic alteration in CAV3 (caveolin 3) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Long QT syndrome | TTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAA... | TTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAA... |
Task1_train_5912 | This mutation occurs in CAV3, OXTR (caveolin 3| oxytocin receptor) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Long QT syndrome | AAGAGATTAAGTCATCTCTGATGAAACCTGCAGCAGAGAAAGCTGGGGGCCAAGATTATACAAGGAAGGTCCTGGGAGGTCAGCTTTTCCATTTCTCCTGCAGCCCAGAGTCTCACCCTGTAAACTGTGCTGCCTGCTGACACACCACCCCGAGTGAGGCCTCATCCTCAGGGATCCCCAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGA... | AAGAGATTAAGTCATCTCTGATGAAACCTGCAGCAGAGAAAGCTGGGGGCCAAGATTATACAAGGAAGGTCCTGGGAGGTCAGCTTTTCCATTTCTCCTGCAGCCCAGAGTCTCACCCTGTAAACTGTGCTGCCTGCTGACACACCACCCCGAGTGAGGCCTCATCCTCAGGGATCCCCAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGA... |
Task1_train_5913 | Gene CAV3, OXTR (caveolin 3| oxytocin receptor), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cardiovascular phenotype | AAGAGATTAAGTCATCTCTGATGAAACCTGCAGCAGAGAAAGCTGGGGGCCAAGATTATACAAGGAAGGTCCTGGGAGGTCAGCTTTTCCATTTCTCCTGCAGCCCAGAGTCTCACCCTGTAAACTGTGCTGCCTGCTGACACACCACCCCGAGTGAGGCCTCATCCTCAGGGATCCCCAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGA... | AAGAGATTAAGTCATCTCTGATGAAACCTGCAGCAGAGAAAGCTGGGGGCCAAGATTATACAAGGAAGGTCCTGGGAGGTCAGCTTTTCCATTTCTCCTGCAGCCCAGAGTCTCACCCTGTAAACTGTGCTGCCTGCTGACACACCACCCCGAGTGAGGCCTCATCCTCAGGGATCCCCAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGA... |
Task1_train_5914 | Given a variant located on Chromosome 3 and affecting CAV3, OXTR (caveolin 3| oxytocin receptor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Myopathy with tubular aggregates | AAGAGATTAAGTCATCTCTGATGAAACCTGCAGCAGAGAAAGCTGGGGGCCAAGATTATACAAGGAAGGTCCTGGGAGGTCAGCTTTTCCATTTCTCCTGCAGCCCAGAGTCTCACCCTGTAAACTGTGCTGCCTGCTGACACACCACCCCGAGTGAGGCCTCATCCTCAGGGATCCCCAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGA... | AAGAGATTAAGTCATCTCTGATGAAACCTGCAGCAGAGAAAGCTGGGGGCCAAGATTATACAAGGAAGGTCCTGGGAGGTCAGCTTTTCCATTTCTCCTGCAGCCCAGAGTCTCACCCTGTAAACTGTGCTGCCTGCTGACACACCACCCCGAGTGAGGCCTCATCCTCAGGGATCCCCAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGA... |
Task1_train_5915 | Gene OXTR, CAV3 (oxytocin receptor| caveolin 3) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Long QT syndrome 9 | CTGTAAACTGTGCTGCCTGCTGACACACCACCCCGAGTGAGGCCTCATCCTCAGGGATCCCCAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGAAAGAAATGCACCAAAACAATCATATCTTTAGTAATAGAGAAGTACAAACCCAAGACTCTTTTCTTTTTTCTATTCTGTTAATTCTCTGTGATATGGCCATTTTTTTTATAATGAAAG... | CTGTAAACTGTGCTGCCTGCTGACACACCACCCCGAGTGAGGCCTCATCCTCAGGGATCCCCAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGAAAGAAATGCACCAAAACAATCATATCTTTAGTAATAGAGAAGTACAAACCCAAGACTCTTTTCTTTTTTCTATTCTGTTAATTCTCTGTGATATGGCCATTTTTTTTATAATGAAAG... |
Task1_train_5916 | Here is a mutation in CAV3, OXTR (caveolin 3| oxytocin receptor) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Long QT syndrome | CAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGAAAGAAATGCACCAAAACAATCATATCTTTAGTAATAGAGAAGTACAAACCCAAGACTCTTTTCTTTTTTCTATTCTGTTAATTCTCTGTGATATGGCCATTTTTTTTATAATGAAAGTAATTTTAATATTGGTGATGCAATAGAGGAGAGGATCCCCTCCCCATAACCAAGGCGGGAA... | CAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGAAAGAAATGCACCAAAACAATCATATCTTTAGTAATAGAGAAGTACAAACCCAAGACTCTTTTCTTTTTTCTATTCTGTTAATTCTCTGTGATATGGCCATTTTTTTTATAATGAAAGTAATTTTAATATTGGTGATGCAATAGAGGAGAGGATCCCCTCCCCATAACCAAGGCGGGAA... |
Task1_train_5917 | This mutation occurs in OXTR, CAV3 (oxytocin receptor| caveolin 3) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Long QT syndrome 9 | GTCACTTCTTTCCCCAGAAAATATTGTACTGGAAAGAAATGCACCAAAACAATCATATCTTTAGTAATAGAGAAGTACAAACCCAAGACTCTTTTCTTTTTTCTATTCTGTTAATTCTCTGTGATATGGCCATTTTTTTTATAATGAAAGTAATTTTAATATTGGTGATGCAATAGAGGAGAGGATCCCCTCCCCATAACCAAGGCGGGAAAGGGACTAACTAACCAGGAAGATTGAAGTTGGAGCCTCAGCCCTGCAGGCCACCACACAGGCCCCTCCTGTTGATCTGATTAGTCTGTACCTGCATCCACCCCCTTTTA... | GTCACTTCTTTCCCCAGAAAATATTGTACTGGAAAGAAATGCACCAAAACAATCATATCTTTAGTAATAGAGAAGTACAAACCCAAGACTCTTTTCTTTTTTCTATTCTGTTAATTCTCTGTGATATGGCCATTTTTTTTATAATGAAAGTAATTTTAATATTGGTGATGCAATAGAGGAGAGGATCCCCTCCCCATAACCAAGGCGGGAAAGGGACTAACTAACCAGGAAGATTGAAGTTGGAGCCTCAGCCCTGCAGGCCACCACACAGGCCCCTCCTGTTGATCTGATTAGTCTGTACCTGCATCCACCCCCTTTTA... |
Task1_train_5918 | A variant found in Chromosome 3 affects SETD5 (SET domain containing 5). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | GTAGGAATTATGTAATATTTATAGAAAGTTAAGCATGTTCTTTCTCATCTTTATTTTAGAGATAGAGTCACTGAAGTCTTAATCATGTATTTTTTTTTTTTTTTTAATATTTTCTTGCCGTTTCTGGGGAGGCAATTTCACTAGATGTAGCATGTCTCTTAGAAAAATTGAGCTTTCATCACATTTTAAAATTTCTCATCATTGATCTAAATAACATGTACAGATAAAACCTGAAAATATTAGCATGTTTTCCTTAATTATGAAGTAATTTGAGTGTCTACTAAGGTGTTCTTGCTGTTGTTTAATGTTATTGCTCTGGT... | GTAGGAATTATGTAATATTTATAGAAAGTTAAGCATGTTCTTTCTCATCTTTATTTTAGAGATAGAGTCACTGAAGTCTTAATCATGTATTTTTTTTTTTTTTTTAATATTTTCTTGCCGTTTCTGGGGAGGCAATTTCACTAGATGTAGCATGTCTCTTAGAAAAATTGAGCTTTCATCACATTTTAAAATTTCTCATCATTGATCTAAATAACATGTACAGATAAAACCTGAAAATATTAGCATGTTTTCCTTAATTATGAAGTAATTTGAGTGTCTACTAAGGTGTTCTTGCTGTTGTTTAATGTTATTGCTCTGGT... |
Task1_train_5919 | This mutation is located in gene SETD5 (SET domain containing 5) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | TACTTTGCTCCTTCTCATTCCTGCTACCTCCATCATGTGAACCTCTTCTGTTCTCTTGACTTTGTATCATCTCATTGATTTGACCTGAAGGTTATAATTTGGGCTTTTTCCGTAATAAAGATTTTATTATAATTTTTTTATTTATTTTTCTCTATACACACAGTAGTTTTGTAGTGATTATTATCTAGTGATGGTTTGAAGAGGTTGTTTTTTTTTTTTTTTTTTTTTTTACTAACAATCTGGTTTCCGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGGCGAGGTGGGCGGATCACGAGGTCAGG... | TACTTTGCTCCTTCTCATTCCTGCTACCTCCATCATGTGAACCTCTTCTGTTCTCTTGACTTTGTATCATCTCATTGATTTGACCTGAAGGTTATAATTTGGGCTTTTTCCGTAATAAAGATTTTATTATAATTTTTTTATTTATTTTTCTCTATACACACAGTAGTTTTGTAGTGATTATTATCTAGTGATGGTTTGAAGAGGTTGTTTTTTTTTTTTTTTTTTTTTTTACTAACAATCTGGTTTCCGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGGCGAGGTGGGCGGATCACGAGGTCAGG... |
Task1_train_5920 | This sequence variant lies in BRPF1 (bromodomain and PHD finger containing 1) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | CCCGGCGGGCGCCCCCGGCGATGAGCCCGGACTCGAGGTGGCCGGTGAGTGCGGGCCTGGGACCAGGGCGGGAGTGGCCGGCAGGGAAGGGGTAGGCTACGTTCGTGGGACGCGCACTGAGCCGCGTGGCCCGGGAACCTCTCTGGCAACTCCAGTTGGGAGAACTGACAGTGCATTGCTTCCCAGCAGGCATCCTGGGGCAACAGTGTATCTTTCGGGGCTGCCCGGGCTAGTGGCAGGCGGGGAGCCTTGTTTCACTTGTTACACTTCCACAAAGGGGAAACGCCGCCGCATCCGGAGAGTGGGCTGCGGGCACTGCC... | CCCGGCGGGCGCCCCCGGCGATGAGCCCGGACTCGAGGTGGCCGGTGAGTGCGGGCCTGGGACCAGGGCGGGAGTGGCCGGCAGGGAAGGGGTAGGCTACGTTCGTGGGACGCGCACTGAGCCGCGTGGCCCGGGAACCTCTCTGGCAACTCCAGTTGGGAGAACTGACAGTGCATTGCTTCCCAGCAGGCATCCTGGGGCAACAGTGTATCTTTCGGGGCTGCCCGGGCTAGTGGCAGGCGGGGAGCCTTGTTTCACTTGTTACACTTCCACAAAGGGGAAACGCCGCCGCATCCGGAGAGTGGGCTGCGGGCACTGCC... |
Task1_train_5921 | This genomic variant is located on Chromosome 3, within the BRPF1 (bromodomain and PHD finger containing 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Intellectual developmental disorder with dysmorphic facies and ptosis | CACCACTTTACAGATGAACAAACAAGGCTCAGGGAGCTTAGCTCACTTGCCCTCTGTTAGACAGCACCCAGGCAGTGTGGCTCCAGAGCCTGTGTGTGCTGGCCCACTCTAGCAGCCAAAGTTCCATTTCCCACATAAGAGGAGAAACGAGCTAATGTTTTTCTAGGGCCTGCTGTGTGCCACTTGACTTAGCTCATTCATTTTTCAAAACAACTTTTTAATAAAAAGATAAATGTACATATTTGCACACGTCTGTATGTGGTCACACATGACTTAGTGGTTAGGTGGCATTTTACACCAAGGTGCTCACACTTCCTTCC... | CACCACTTTACAGATGAACAAACAAGGCTCAGGGAGCTTAGCTCACTTGCCCTCTGTTAGACAGCACCCAGGCAGTGTGGCTCCAGAGCCTGTGTGTGCTGGCCCACTCTAGCAGCCAAAGTTCCATTTCCCACATAAGAGGAGAAACGAGCTAATGTTTTTCTAGGGCCTGCTGTGTGCCACTTGACTTAGCTCATTCATTTTTCAAAACAACTTTTTAATAAAAAGATAAATGTACATATTTGCACACGTCTGTATGTGGTCACACATGACTTAGTGGTTAGGTGGCATTTTACACCAAGGTGCTCACACTTCCTTCC... |
Task1_train_5922 | A variant affecting Chromosome 3, within the gene BRPF1 (bromodomain and PHD finger containing 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Intellectual developmental disorder with dysmorphic facies and ptosis | TAGACAGCACCCAGGCAGTGTGGCTCCAGAGCCTGTGTGTGCTGGCCCACTCTAGCAGCCAAAGTTCCATTTCCCACATAAGAGGAGAAACGAGCTAATGTTTTTCTAGGGCCTGCTGTGTGCCACTTGACTTAGCTCATTCATTTTTCAAAACAACTTTTTAATAAAAAGATAAATGTACATATTTGCACACGTCTGTATGTGGTCACACATGACTTAGTGGTTAGGTGGCATTTTACACCAAGGTGCTCACACTTCCTTCCATGGGCCTGCTGGGGGTTGCTGGAGCCTGATGGGGTAGTAGGCACTGGGCAAGGTAG... | TAGACAGCACCCAGGCAGTGTGGCTCCAGAGCCTGTGTGTGCTGGCCCACTCTAGCAGCCAAAGTTCCATTTCCCACATAAGAGGAGAAACGAGCTAATGTTTTTCTAGGGCCTGCTGTGTGCCACTTGACTTAGCTCATTCATTTTTCAAAACAACTTTTTAATAAAAAGATAAATGTACATATTTGCACACGTCTGTATGTGGTCACACATGACTTAGTGGTTAGGTGGCATTTTACACCAAGGTGCTCACACTTCCTTCCATGGGCCTGCTGGGGGTTGCTGGAGCCTGATGGGGTAGTAGGCACTGGGCAAGGTAG... |
Task1_train_5923 | This is a variant in BRPF1 (bromodomain and PHD finger containing 1), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Intellectual developmental disorder with dysmorphic facies and ptosis | AGGAACTGTGACCAAGTTGGGGTACTGTGTCCAGTTCCCTGTGGGCTCTGGGAACTAGCGCCAGGGGGACGAAAACCAAAATTTGCAACTGTAGTTTCCAGTGTCAGAGGGCTTAGACTCTTTCCTCCTTTAAGCTAGCCCTCAAACCAGGATCAGCATGGAATGTTCAATGAAAAGATGTTGTTCCTATGTGTTTATGTATTCATTCAACAAACACATACCAAGCATTTATTCTGCCAGGCCTTGGGGACACACAGATTGAGGCACTACCAATAAATTACTGTGCTCCCTCTTTTGGCTTGACCTGAGTTTCCTGGGCT... | AGGAACTGTGACCAAGTTGGGGTACTGTGTCCAGTTCCCTGTGGGCTCTGGGAACTAGCGCCAGGGGGACGAAAACCAAAATTTGCAACTGTAGTTTCCAGTGTCAGAGGGCTTAGACTCTTTCCTCCTTTAAGCTAGCCCTCAAACCAGGATCAGCATGGAATGTTCAATGAAAAGATGTTGTTCCTATGTGTTTATGTATTCATTCAACAAACACATACCAAGCATTTATTCTGCCAGGCCTTGGGGACACACAGATTGAGGCACTACCAATAAATTACTGTGCTCCCTCTTTTGGCTTGACCTGAGTTTCCTGGGCT... |
Task1_train_5924 | Consider this mutation in BRPF1 (bromodomain and PHD finger containing 1) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Intellectual developmental disorder with dysmorphic facies and ptosis | AGAACCAGAAGCACCTGCCAGTGGAAGAACAGCTAAAGCTGCTTCTGGAGCGGCTGGACGAAGTGAATGCCAGCAAGCAGAGTGTGGGCCGCTCACGGCGTGCAAAGATGATCAAGAAAGAGATGACGGCACTGCGGCGGAAGCTTGCCCATCAGCGAGAGACGGGACGTGATGGCCCTGAGCGGCATGGCCCCTCGAGCCGGGGTAGTCTGACACCCCACCCGGCAGCCTGTGACAAGGATGGGCAGACAGATAGTGCGGCAGAGGAGAGCAGCAGCCAGGAGACAAGCAAAGGTCTGAATCCCATGGCAAGGTGGACC... | AGAACCAGAAGCACCTGCCAGTGGAAGAACAGCTAAAGCTGCTTCTGGAGCGGCTGGACGAAGTGAATGCCAGCAAGCAGAGTGTGGGCCGCTCACGGCGTGCAAAGATGATCAAGAAAGAGATGACGGCACTGCGGCGGAAGCTTGCCCATCAGCGAGAGACGGGACGTGATGGCCCTGAGCGGCATGGCCCCTCGAGCCGGGGTAGTCTGACACCCCACCCGGCAGCCTGTGACAAGGATGGGCAGACAGATAGTGCGGCAGAGGAGAGCAGCAGCCAGGAGACAAGCAAAGGTCTGAATCCCATGGCAAGGTGGACC... |
Task1_train_5925 | A genetic alteration is present in JAGN1 (jagunal homolog 1) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | TGCCCAGAATGGAATGCAGTGGCATAATCATGGCTCACTGTAACCTTGAACTCCTGGTCTCAAATGATTCTCCCACCTCATCCTCCCGAGTAGCCTGGACTACAGGCACGCACCACCATGCCAGTTAATATTATTTTATTTTTTATTTTTGTAGAGACGGGAGTCTCACTATGTTGCCCAGGCTGATCTCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGGCACTGTGCCCCCACCTAGACCTATCTTTTAAAAATGCAAAACTGTGTCATTTTCCTGGTTAAACCTTTTAGTGGTTCCCCAAACCCCCT... | TGCCCAGAATGGAATGCAGTGGCATAATCATGGCTCACTGTAACCTTGAACTCCTGGTCTCAAATGATTCTCCCACCTCATCCTCCCGAGTAGCCTGGACTACAGGCACGCACCACCATGCCAGTTAATATTATTTTATTTTTTATTTTTGTAGAGACGGGAGTCTCACTATGTTGCCCAGGCTGATCTCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGGCACTGTGCCCCCACCTAGACCTATCTTTTAAAAATGCAAAACTGTGTCATTTTCCTGGTTAAACCTTTTAGTGGTTCCCCAAACCCCCT... |
Task1_train_5926 | With a mutation on Chromosome 3 in gene JAGN1 (jagunal homolog 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Severe congenital neutropenia | TGCCCAGAATGGAATGCAGTGGCATAATCATGGCTCACTGTAACCTTGAACTCCTGGTCTCAAATGATTCTCCCACCTCATCCTCCCGAGTAGCCTGGACTACAGGCACGCACCACCATGCCAGTTAATATTATTTTATTTTTTATTTTTGTAGAGACGGGAGTCTCACTATGTTGCCCAGGCTGATCTCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGGCACTGTGCCCCCACCTAGACCTATCTTTTAAAAATGCAAAACTGTGTCATTTTCCTGGTTAAACCTTTTAGTGGTTCCCCAAACCCCCT... | TGCCCAGAATGGAATGCAGTGGCATAATCATGGCTCACTGTAACCTTGAACTCCTGGTCTCAAATGATTCTCCCACCTCATCCTCCCGAGTAGCCTGGACTACAGGCACGCACCACCATGCCAGTTAATATTATTTTATTTTTTATTTTTGTAGAGACGGGAGTCTCACTATGTTGCCCAGGCTGATCTCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGGCACTGTGCCCCCACCTAGACCTATCTTTTAAAAATGCAAAACTGTGTCATTTTCCTGGTTAAACCTTTTAGTGGTTCCCCAAACCCCCT... |
Task1_train_5927 | Chromosome 3 houses a mutation in gene JAGN1 (jagunal homolog 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Severe congenital neutropenia | GCCGTTTGGGGGGATATAGACAGTAAAAGGCAGCCTTTCCTAAGGACGCCTTGCCTAAAATGAATTTTATAAACACTCCCACGTAAGGGGTATTTCTACATTCAATTACTAGTTCGACAAATACTGAGCTTCCAAACATCATACACTGCTAGACACTAGGTTATAATAGTGAGCAAAAGCAGACGTGGTCTTTGTATACATGTTATACCTTCAATAAACAATTTTATTAAAGAAAAAAAAAACTGTTCCCTGCCTTCATGGAGCTTGAAGTCTAGAGATGACTGTTTTTTTTTTCCAACCTTTCCACATTTTCTACAATA... | GCCGTTTGGGGGGATATAGACAGTAAAAGGCAGCCTTTCCTAAGGACGCCTTGCCTAAAATGAATTTTATAAACACTCCCACGTAAGGGGTATTTCTACATTCAATTACTAGTTCGACAAATACTGAGCTTCCAAACATCATACACTGCTAGACACTAGGTTATAATAGTGAGCAAAAGCAGACGTGGTCTTTGTATACATGTTATACCTTCAATAAACAATTTTATTAAAGAAAAAAAAAACTGTTCCCTGCCTTCATGGAGCTTGAAGTCTAGAGATGACTGTTTTTTTTTTCCAACCTTTCCACATTTTCTACAATA... |
Task1_train_5928 | This sequence variant lies in FANCD2 (FA complementation group D2) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Fanconi anemia | GGGATAATCCCCACAGGTACCTTTCTGCGTCATTAAAATGCGGAAACGAGAAAGGCTTTTACCCTCACCCGCTTCCCGATGAACTAATCCAGGCAGTCGGCCTCATCTCACTTCTGTTGGGCTTTTCTGGAAGCCAGATGGTATCGCACGTGTTAAAGGCGGGTGCCTGGAAGCCGGACGTGCTGACAAGACTTAGTTTTTCCATCTGCAAGATGGCTGATAATGGTTATCCGTATTAACCGAAGCGGCGATAAATAAAAAGTTTAGCACAGGGCCCGGTACCTCGTAAATGTTAACCATTATTAGAAGTCATTATAATC... | GGGATAATCCCCACAGGTACCTTTCTGCGTCATTAAAATGCGGAAACGAGAAAGGCTTTTACCCTCACCCGCTTCCCGATGAACTAATCCAGGCAGTCGGCCTCATCTCACTTCTGTTGGGCTTTTCTGGAAGCCAGATGGTATCGCACGTGTTAAAGGCGGGTGCCTGGAAGCCGGACGTGCTGACAAGACTTAGTTTTTCCATCTGCAAGATGGCTGATAATGGTTATCCGTATTAACCGAAGCGGCGATAAATAAAAAGTTTAGCACAGGGCCCGGTACCTCGTAAATGTTAACCATTATTAGAAGTCATTATAATC... |
Task1_train_5929 | A genetic alteration is present in FANCD2, LOC107303338 (FA complementation group D2| 3p25 FANCD2 Alu-mediated recombination region) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Fanconi anemia complementation group D2 | CTCTCATGATTATTATTCCTGGGTTTAAGTTTTAATTTTTCCTTTACTATTTGCCATATTCTTGAAAATTTTTCTATTTTCAGAAACCAGGAAGCAACCACTTTCCAAAAAGACAAAGAAATCTCATATTGCTAATGAAGTTGAAGAAAATGACAGCATCTTTGTAAAGCTTCTTAAGATATCAGGAATTATTCTTAAAACGGGAGAGAGTCAGAATCAACTAGGTAATATTTTAATCTAATTTTATTCTCTGGGTTTAATGAAATAGTTCAGGACTGAATCATGGGTTTTCTAAATAGAGAGGCAATGAAGATTAGAAA... | CTCTCATGATTATTATTCCTGGGTTTAAGTTTTAATTTTTCCTTTACTATTTGCCATATTCTTGAAAATTTTTCTATTTTCAGAAACCAGGAAGCAACCACTTTCCAAAAAGACAAAGAAATCTCATATTGCTAATGAAGTTGAAGAAAATGACAGCATCTTTGTAAAGCTTCTTAAGATATCAGGAATTATTCTTAAAACGGGAGAGAGTCAGAATCAACTAGGTAATATTTTAATCTAATTTTATTCTCTGGGTTTAATGAAATAGTTCAGGACTGAATCATGGGTTTTCTAAATAGAGAGGCAATGAAGATTAGAAA... |
Task1_train_5930 | This variant affects gene FANCD2, LOC107303338 (FA complementation group D2| 3p25 FANCD2 Alu-mediated recombination region) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Fanconi anemia | CTCTCATGATTATTATTCCTGGGTTTAAGTTTTAATTTTTCCTTTACTATTTGCCATATTCTTGAAAATTTTTCTATTTTCAGAAACCAGGAAGCAACCACTTTCCAAAAAGACAAAGAAATCTCATATTGCTAATGAAGTTGAAGAAAATGACAGCATCTTTGTAAAGCTTCTTAAGATATCAGGAATTATTCTTAAAACGGGAGAGAGTCAGAATCAACTAGGTAATATTTTAATCTAATTTTATTCTCTGGGTTTAATGAAATAGTTCAGGACTGAATCATGGGTTTTCTAAATAGAGAGGCAATGAAGATTAGAAA... | CTCTCATGATTATTATTCCTGGGTTTAAGTTTTAATTTTTCCTTTACTATTTGCCATATTCTTGAAAATTTTTCTATTTTCAGAAACCAGGAAGCAACCACTTTCCAAAAAGACAAAGAAATCTCATATTGCTAATGAAGTTGAAGAAAATGACAGCATCTTTGTAAAGCTTCTTAAGATATCAGGAATTATTCTTAAAACGGGAGAGAGTCAGAATCAACTAGGTAATATTTTAATCTAATTTTATTCTCTGGGTTTAATGAAATAGTTCAGGACTGAATCATGGGTTTTCTAAATAGAGAGGCAATGAAGATTAGAAA... |
Task1_train_5931 | Here is a mutation in LOC107303338, FANCD2 (3p25 FANCD2 Alu-mediated recombination region| FA complementation group D2) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Fanconi anemia complementation group D2 | CATAGCACTTATATTAGGTTGGTGCAAAAGTAATTGCAGTTTTTGCAATAAGTAGTTCAGTATTTTGTTTAAAAAAGAAGATACACACATACACATATGTATATTAATAGTGTACCTTTCTGGAATGACAGGATTATAGTCATTTTTATGTTCTCCTTTTTAATTTTTTCAGAGTCCTGATACAGTAATAGTAAGTTTAAAGGTTTACTTATTTTGAGACGGAATCTCACTCTGTTGCCCAGGCTAGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCCC... | CATAGCACTTATATTAGGTTGGTGCAAAAGTAATTGCAGTTTTTGCAATAAGTAGTTCAGTATTTTGTTTAAAAAAGAAGATACACACATACACATATGTATATTAATAGTGTACCTTTCTGGAATGACAGGATTATAGTCATTTTTATGTTCTCCTTTTTAATTTTTTCAGAGTCCTGATACAGTAATAGTAAGTTTAAAGGTTTACTTATTTTGAGACGGAATCTCACTCTGTTGCCCAGGCTAGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCCC... |
Task1_train_5932 | This mutation is located in gene FANCD2, LOC107303338 (FA complementation group D2| 3p25 FANCD2 Alu-mediated recombination region) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Fanconi anemia complementation group D2 | AGTTGGCAAGTGATTGAATCTTTCTTTTAATAAATGTCAAGATGTTCAGAGTTACTTCTGTAGTAATATCACTTTCATGCATATTGCTCTGTATTCTTTTTTTTTTTTTTTGAGAATGGAATCTCGCTCTCTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGCAGCTGGGACTATAGGTGCATGCTGCCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGTCAGGATGGTCTCGATCT... | AGTTGGCAAGTGATTGAATCTTTCTTTTAATAAATGTCAAGATGTTCAGAGTTACTTCTGTAGTAATATCACTTTCATGCATATTGCTCTGTATTCTTTTTTTTTTTTTTTGAGAATGGAATCTCGCTCTCTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGCAGCTGGGACTATAGGTGCATGCTGCCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGTCAGGATGGTCTCGATCT... |
Task1_train_5933 | The gene FANCD2, LOC107303338 (FA complementation group D2| 3p25 FANCD2 Alu-mediated recombination region) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Fanconi anemia complementation group D2 | GCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGACTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAGAAGTTGTGTTCCCTATGTATGTGGAGTAATATCTCCCTATGTACGTGGAGTAATACACCTATGAAGTGTGGTCTAGAAATTTATTTCTCCTTCTCAGATTGGTGTCTCCGCTGTGCCTGGCTCCGTATTTCCGGTTACTGAGACTTTGTGTGGAGAGACAGCATAACGGAAACTTGGAGGAGATTGATGGTCTACTAGGTATGGGATGAAGTCATCAGATCCTTTCTTCTTTATACTCTTCC... | GCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGACTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAGAAGTTGTGTTCCCTATGTATGTGGAGTAATATCTCCCTATGTACGTGGAGTAATACACCTATGAAGTGTGGTCTAGAAATTTATTTCTCCTTCTCAGATTGGTGTCTCCGCTGTGCCTGGCTCCGTATTTCCGGTTACTGAGACTTTGTGTGGAGAGACAGCATAACGGAAACTTGGAGGAGATTGATGGTCTACTAGGTATGGGATGAAGTCATCAGATCCTTTCTTCTTTATACTCTTCC... |
Task1_train_5934 | This variant impacts the gene FANCD2, LOC107303338 (FA complementation group D2| 3p25 FANCD2 Alu-mediated recombination region) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Fanconi anemia | GCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGACTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAGAAGTTGTGTTCCCTATGTATGTGGAGTAATATCTCCCTATGTACGTGGAGTAATACACCTATGAAGTGTGGTCTAGAAATTTATTTCTCCTTCTCAGATTGGTGTCTCCGCTGTGCCTGGCTCCGTATTTCCGGTTACTGAGACTTTGTGTGGAGAGACAGCATAACGGAAACTTGGAGGAGATTGATGGTCTACTAGGTATGGGATGAAGTCATCAGATCCTTTCTTCTTTATACTCTTCC... | GCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGACTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAGAAGTTGTGTTCCCTATGTATGTGGAGTAATATCTCCCTATGTACGTGGAGTAATACACCTATGAAGTGTGGTCTAGAAATTTATTTCTCCTTCTCAGATTGGTGTCTCCGCTGTGCCTGGCTCCGTATTTCCGGTTACTGAGACTTTGTGTGGAGAGACAGCATAACGGAAACTTGGAGGAGATTGATGGTCTACTAGGTATGGGATGAAGTCATCAGATCCTTTCTTCTTTATACTCTTCC... |
Task1_train_5935 | The variant affects gene FANCD2, FANCD2OS (FA complementation group D2| FANCD2 opposite strand), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Fanconi anemia | CTGGCAAAAGGGCCAGTGGATCAGGAACGTGACAGCTTTTTGTAAGTTGCCTGTTAGACCGGGAACGTCTTAGTAAATCTAAACTAATAATCCTTTTGATCAATAATCATCCTCAAAAACCTGAAAAGCAAGAATGAGGTCAAGTTCCCATATGTAAGATTCCTTTGTCTTCTTTTCTAACAGCTTCCCTTGCCAGACAATTCCTCTGTCGGGTGTGGCCAAGTGGGGATAAAGAGAAGAGCAACATCTCTAATGACCAGCTCCATGCTCTGCTCTGGTGAGATGTTTGGTTTCTTCCAATGAGCCAAATAGCTTTTTTC... | CTGGCAAAAGGGCCAGTGGATCAGGAACGTGACAGCTTTTTGTAAGTTGCCTGTTAGACCGGGAACGTCTTAGTAAATCTAAACTAATAATCCTTTTGATCAATAATCATCCTCAAAAACCTGAAAAGCAAGAATGAGGTCAAGTTCCCATATGTAAGATTCCTTTGTCTTCTTTTCTAACAGCTTCCCTTGCCAGACAATTCCTCTGTCGGGTGTGGCCAAGTGGGGATAAAGAGAAGAGCAACATCTCTAATGACCAGCTCCATGCTCTGCTCTGGTGAGATGTTTGGTTTCTTCCAATGAGCCAAATAGCTTTTTTC... |
Task1_train_5936 | A variant has been detected on Chromosome 3 in VHL (von Hippel-Lindau tumor suppressor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Chuvash polycythemia | GACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGA... | GACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGA... |
Task1_train_5937 | Chromosome 3 houses a mutation in gene VHL (von Hippel-Lindau tumor suppressor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Von Hippel-Lindau syndrome | GACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGA... | GACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGA... |
Task1_train_5938 | This mutation is located in gene VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Von Hippel-Lindau syndrome | GACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGA... | GACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGA... |
Task1_train_5939 | Mutation context: Chromosome 3, Gene VHL (von Hippel-Lindau tumor suppressor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Von Hippel-Lindau syndrome | ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGAC... | ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGAC... |
Task1_train_5940 | Chromosome 3 houses a mutation in gene VHL (von Hippel-Lindau tumor suppressor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hereditary cancer-predisposing syndrome | ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGAC... | ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGAC... |
Task1_train_5941 | This alteration occurs within gene VHL (von Hippel-Lindau tumor suppressor) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Pancreatic cysts | ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGAC... | ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGAC... |
Task1_train_5942 | This variant affects the gene VHL (von Hippel-Lindau tumor suppressor) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Retinal capillary hemangioma | ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGAC... | ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGAC... |
Task1_train_5943 | The gene VHL (von Hippel-Lindau tumor suppressor) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Spinal hemangioblastoma | ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGAC... | ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGAC... |
Task1_train_5944 | A mutation found in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cerebellar hemangioblastoma | ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGAC... | ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGAC... |
Task1_train_5945 | A variant has been detected on Chromosome 3 in VHL (von Hippel-Lindau tumor suppressor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Chuvash polycythemia | ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGAC... | ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGAC... |
Task1_train_5946 | Consider a variant on Chromosome 3 in gene VHL (von Hippel-Lindau tumor suppressor). Determine its clinical classification and disease relevance. | Pathogenic; Von Hippel-Lindau syndrome | ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGAC... | ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGAC... |
Task1_train_5947 | This sequence variant lies in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Von Hippel-Lindau syndrome | CTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGAC... | CTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGAC... |
Task1_train_5948 | This alteration occurs within gene VHL (von Hippel-Lindau tumor suppressor) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Chuvash polycythemia | TGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACT... | TGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACT... |
Task1_train_5949 | A variant was discovered in gene VHL (von Hippel-Lindau tumor suppressor), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Von Hippel-Lindau syndrome | TGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACT... | TGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACT... |
Task1_train_5950 | Given this context: Chromosome 3, gene VHL (von Hippel-Lindau tumor suppressor) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Von Hippel-Lindau syndrome | TGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACT... | TGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACT... |
Task1_train_5951 | A genomic change on Chromosome 3 affects VHL (von Hippel-Lindau tumor suppressor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Von Hippel-Lindau syndrome | CTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTA... | CTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTA... |
Task1_train_5952 | This gene mutation involves VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Chuvash polycythemia | TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAA... | TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAA... |
Task1_train_5953 | Here is a genetic alteration in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Von Hippel-Lindau syndrome | TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAA... | TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAA... |
Task1_train_5954 | This sequence change occurs on Chromosome 3, altering VHL (von Hippel-Lindau tumor suppressor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Chuvash polycythemia | TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAA... | TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAA... |
Task1_train_5955 | An alteration has been detected in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Von Hippel-Lindau syndrome | TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAA... | TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAA... |
Task1_train_5956 | The gene VHL (von Hippel-Lindau tumor suppressor), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Von Hippel-Lindau syndrome | TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAA... | TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAA... |
Task1_train_5957 | This alteration occurs within gene VHL (von Hippel-Lindau tumor suppressor) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Von Hippel-Lindau syndrome | GATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAA... | GATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAA... |
Task1_train_5958 | A variant affecting Chromosome 3, within the gene VHL (von Hippel-Lindau tumor suppressor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hereditary cancer-predisposing syndrome | TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTAT... | TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTAT... |
Task1_train_5959 | This alteration in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Von Hippel-Lindau syndrome | TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTAT... | TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTAT... |
Task1_train_5960 | Here is a genetic alteration in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Chuvash polycythemia | TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTAT... | TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTAT... |
Task1_train_5961 | This sequence variant lies in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Von Hippel-Lindau syndrome | TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTAT... | TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTAT... |
Task1_train_5962 | Given this variant in gene VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Von Hippel-Lindau syndrome | TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTAT... | TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTAT... |
Task1_train_5963 | Chromosome 3 houses a mutation in gene VHL (von Hippel-Lindau tumor suppressor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hereditary cancer-predisposing syndrome | TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTAT... | TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTAT... |
Task1_train_5964 | A variant was discovered in gene VHL (von Hippel-Lindau tumor suppressor), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Chuvash polycythemia | TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTAT... | TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTAT... |
Task1_train_5965 | Here is a variant affecting VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Von Hippel-Lindau syndrome | TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTAT... | TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTAT... |
Task1_train_5966 | This variant lies on Chromosome 3 and affects the gene VHL (von Hippel-Lindau tumor suppressor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Von Hippel-Lindau syndrome | TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAAC... | TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAAC... |
Task1_train_5967 | Consider this mutation in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Chuvash polycythemia | TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAAC... | TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAAC... |
Task1_train_5968 | This mutation occurs in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Von Hippel-Lindau syndrome | TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAAC... | TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAAC... |
Task1_train_5969 | The gene VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAAC... | TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAAC... |
Task1_train_5970 | Gene VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Von Hippel-Lindau syndrome | TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAAC... | TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAAC... |
Task1_train_5971 | The following genetic variant occurs in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Von Hippel-Lindau syndrome | TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATA... | TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATA... |
Task1_train_5972 | The variant affects gene VHL (von Hippel-Lindau tumor suppressor), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Chuvash polycythemia | TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATA... | TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATA... |
Task1_train_5973 | A variant was discovered on Chromosome 3, affecting VHL (von Hippel-Lindau tumor suppressor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Chuvash polycythemia | TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATA... | TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATA... |
Task1_train_5974 | A variant on Chromosome 3 in gene VHL (von Hippel-Lindau tumor suppressor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Von Hippel-Lindau syndrome | TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATA... | TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATA... |
Task1_train_5975 | A genomic change on Chromosome 3 affects VHL (von Hippel-Lindau tumor suppressor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATA... | TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATA... |
Task1_train_5976 | Consider a variant on Chromosome 3 in gene VHL (von Hippel-Lindau tumor suppressor). Determine its clinical classification and disease relevance. | Pathogenic; Von Hippel-Lindau syndrome | TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATA... | TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATA... |
Task1_train_5977 | This mutation occurs in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Chuvash polycythemia | TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATA... | TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATA... |
Task1_train_5978 | Gene VHL (von Hippel-Lindau tumor suppressor), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Von Hippel-Lindau syndrome | TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATA... | TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATA... |
Task1_train_5979 | Chromosome 3 houses a mutation in gene VHL (von Hippel-Lindau tumor suppressor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Von Hippel-Lindau syndrome | TGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATAT... | TGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATAT... |
Task1_train_5980 | This variant impacts the gene VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Von Hippel-Lindau syndrome | GAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATA... | GAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATA... |
Task1_train_5981 | Chromosome 3 houses a mutation in gene VHL (von Hippel-Lindau tumor suppressor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Chuvash polycythemia | GAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATA... | GAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATA... |
Task1_train_5982 | This sequence change occurs on Chromosome 3, altering VHL (von Hippel-Lindau tumor suppressor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary cancer-predisposing syndrome | GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAAC... | GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAAC... |
Task1_train_5983 | Mutation context: Chromosome 3, Gene VHL (von Hippel-Lindau tumor suppressor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Chuvash polycythemia | GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAAC... | GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAAC... |
Task1_train_5984 | The following genetic variant occurs in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Von Hippel-Lindau syndrome | GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAAC... | GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAAC... |
Task1_train_5985 | This alteration occurs within gene VHL (von Hippel-Lindau tumor suppressor) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Chuvash polycythemia | GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAAC... | GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAAC... |
Task1_train_5986 | This variant lies on Chromosome 3 and affects the gene VHL (von Hippel-Lindau tumor suppressor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Von Hippel-Lindau syndrome | GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAAC... | GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAAC... |
Task1_train_5987 | The gene VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Von Hippel-Lindau syndrome | AGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACC... | AGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACC... |
Task1_train_5988 | A genomic change on Chromosome 3 affects VHL (von Hippel-Lindau tumor suppressor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Von Hippel-Lindau syndrome | AGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACC... | AGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACC... |
Task1_train_5989 | This variant lies on Chromosome 3 and affects the gene VHL (von Hippel-Lindau tumor suppressor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Chuvash polycythemia | AGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACC... | AGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACC... |
Task1_train_5990 | Given this context: Chromosome 3, gene VHL (von Hippel-Lindau tumor suppressor) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Chuvash polycythemia | GCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAG... | GCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAG... |
Task1_train_5991 | This variant affects the gene VHL (von Hippel-Lindau tumor suppressor) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Von Hippel-Lindau syndrome | GCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAG... | GCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAG... |
Task1_train_5992 | This mutation occurs in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | GCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAG... | GCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAG... |
Task1_train_5993 | This genomic variant is located on Chromosome 3, within the VHL (von Hippel-Lindau tumor suppressor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Von Hippel-Lindau syndrome | GCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAG... | GCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAG... |
Task1_train_5994 | A mutation in VHL (von Hippel-Lindau tumor suppressor), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Von Hippel-Lindau syndrome | CTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGC... | CTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGC... |
Task1_train_5995 | Here is a genetic alteration in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Chuvash polycythemia | CTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGC... | CTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGC... |
Task1_train_5996 | This alteration in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Von Hippel-Lindau syndrome | ACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCA... | ACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCA... |
Task1_train_5997 | This alteration occurs within gene VHL (von Hippel-Lindau tumor suppressor) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Hereditary cancer-predisposing syndrome | AAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACA... | AAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACA... |
Task1_train_5998 | Here’s a variant in VHL (von Hippel-Lindau tumor suppressor) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Chuvash polycythemia | AAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACA... | AAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACA... |
Task1_train_5999 | A genomic change on Chromosome 3 affects VHL (von Hippel-Lindau tumor suppressor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Von Hippel-Lindau syndrome | AAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACA... | AAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACA... |
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