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_13400 | Consider a variant on Chromosome 9 in gene SETX (senataxin). Determine its clinical classification and disease relevance. | Pathogenic; not provided | AAAAATGGCTAAAATTTGAGGTACGAATTGATCAAAAGATTTAACATAAAGTACATTGATGAAGATACGTTCACTCAAGCTTTATAAAAGCCATTTATCTTGCCATGTACAGTGTTAACAACTCACTTCTCTTCTTTTGTAGTAGACTTGTCCCTTTGTACATTACACTTCCTTCCCCAACACTCCAATCTTGTTACCAGACTGTCTTTGCACTCCACTCTGCCTGTAACATACTTCCCACAGTTAACTCCTAGTCACTTGGGTCTCAGTGTAAATATCATCTGCTCATAGAGGTTATCTGATCTCTCCAGAAAGTGCCC... | AAAAATGGCTAAAATTTGAGGTACGAATTGATCAAAAGATTTAACATAAAGTACATTGATGAAGATACGTTCACTCAAGCTTTATAAAAGCCATTTATCTTGCCATGTACAGTGTTAACAACTCACTTCTCTTCTTTTGTAGTAGACTTGTCCCTTTGTACATTACACTTCCTTCCCCAACACTCCAATCTTGTTACCAGACTGTCTTTGCACTCCACTCTGCCTGTAACATACTTCCCACAGTTAACTCCTAGTCACTTGGGTCTCAGTGTAAATATCATCTGCTCATAGAGGTTATCTGATCTCTCCAGAAAGTGCCC... |
Task1_train_13401 | A mutation on Chromosome 9 affecting SETX (senataxin) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | ACAAATGAAACACATACTTACTGTTTCAAAAGTATTCAATACCATCAAAGGGAAAAAAACATTAAAATAATCTCCATAATTGTGAAATCTGACAGGCACAGGTCTTGAGATGGACTGACAAAGACTTGCAGGGGGCCCACACTGACCAAAGTTCAAAAACATTTCATATTTCCATTTTAAGACCTCTTTAACGAAGGTGTCAGAGACAGACTGTGATGACAAAAGAATGTTTACTGGAGAGGAAGATGGAAAATATTTGCTTTCACCAAATGGAACTTTGCAACCTTGCCTGTTGGAATTATTCGGAGACTGAGGATGAA... | ACAAATGAAACACATACTTACTGTTTCAAAAGTATTCAATACCATCAAAGGGAAAAAAACATTAAAATAATCTCCATAATTGTGAAATCTGACAGGCACAGGTCTTGAGATGGACTGACAAAGACTTGCAGGGGGCCCACACTGACCAAAGTTCAAAAACATTTCATATTTCCATTTTAAGACCTCTTTAACGAAGGTGTCAGAGACAGACTGTGATGACAAAAGAATGTTTACTGGAGAGGAAGATGGAAAATATTTGCTTTCACCAAATGGAACTTTGCAACCTTGCCTGTTGGAATTATTCGGAGACTGAGGATGAA... |
Task1_train_13402 | This variant lies on Chromosome 9 and affects the gene SETX (senataxin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Amyotrophic lateral sclerosis type 4 | ATGAAGGCCTCACAGGATCTTCAGCCATTGGTTTTTCAGATCGTTTTCTCTTAGGCTTTTTTACTTCAATTTCACAAAATTCTTCAACAGAAATACTCCGTGGTCTTGTGTGTTCTTCAATGCCCTCTGCTCCTTTTTTAACAACTTCAGATACATAATCTGTACAACCCTGACCATTTGTAGTATTGGCTATAGGAGCCAAACATTTTTTCTCACCATCTTGAACTGAATTATTATCGTCTGGATGATCTTGCCAAACTGAAAACACTTCAGATGAACTTTCAAACTCAAAACACTGAGAATCAGATTCCTCAAACTGA... | ATGAAGGCCTCACAGGATCTTCAGCCATTGGTTTTTCAGATCGTTTTCTCTTAGGCTTTTTTACTTCAATTTCACAAAATTCTTCAACAGAAATACTCCGTGGTCTTGTGTGTTCTTCAATGCCCTCTGCTCCTTTTTTAACAACTTCAGATACATAATCTGTACAACCCTGACCATTTGTAGTATTGGCTATAGGAGCCAAACATTTTTTCTCACCATCTTGAACTGAATTATTATCGTCTGGATGATCTTGCCAAACTGAAAACACTTCAGATGAACTTTCAAACTCAAAACACTGAGAATCAGATTCCTCAAACTGA... |
Task1_train_13403 | This variant lies on Chromosome 9 and affects the gene SETX (senataxin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | ATGAAGGCCTCACAGGATCTTCAGCCATTGGTTTTTCAGATCGTTTTCTCTTAGGCTTTTTTACTTCAATTTCACAAAATTCTTCAACAGAAATACTCCGTGGTCTTGTGTGTTCTTCAATGCCCTCTGCTCCTTTTTTAACAACTTCAGATACATAATCTGTACAACCCTGACCATTTGTAGTATTGGCTATAGGAGCCAAACATTTTTTCTCACCATCTTGAACTGAATTATTATCGTCTGGATGATCTTGCCAAACTGAAAACACTTCAGATGAACTTTCAAACTCAAAACACTGAGAATCAGATTCCTCAAACTGA... | ATGAAGGCCTCACAGGATCTTCAGCCATTGGTTTTTCAGATCGTTTTCTCTTAGGCTTTTTTACTTCAATTTCACAAAATTCTTCAACAGAAATACTCCGTGGTCTTGTGTGTTCTTCAATGCCCTCTGCTCCTTTTTTAACAACTTCAGATACATAATCTGTACAACCCTGACCATTTGTAGTATTGGCTATAGGAGCCAAACATTTTTTCTCACCATCTTGAACTGAATTATTATCGTCTGGATGATCTTGCCAAACTGAAAACACTTCAGATGAACTTTCAAACTCAAAACACTGAGAATCAGATTCCTCAAACTGA... |
Task1_train_13404 | With a mutation on Chromosome 9 in gene SETX (senataxin), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | GAAAAAGAGTCTCTGTCTTTTCTTCCTTTACTGGATTCTTTTCCTCCTTACTATTAACTGTTGAAACGTGCTGCTCTGGATGTTCCCTCTCAAGGCATATTTTGTCCTGTTTAGTGAGTTTCTCAAGACTCAGGATTCTTTCATCATCATCATCATCAGAATCTGAAATAATAATAACCTGTCCACGGGAGGTATCTCCAACATTATTTTGGTTAGCTGTGAAACATCTTTTATCTTCTTTTACTTTCCTTTGCAGCTGCGATGAGTTCTGAGGTGAATCGGATGGGAACGTAATAACACTGGCTTGAGCTAGTAAAGAT... | GAAAAAGAGTCTCTGTCTTTTCTTCCTTTACTGGATTCTTTTCCTCCTTACTATTAACTGTTGAAACGTGCTGCTCTGGATGTTCCCTCTCAAGGCATATTTTGTCCTGTTTAGTGAGTTTCTCAAGACTCAGGATTCTTTCATCATCATCATCATCAGAATCTGAAATAATAATAACCTGTCCACGGGAGGTATCTCCAACATTATTTTGGTTAGCTGTGAAACATCTTTTATCTTCTTTTACTTTCCTTTGCAGCTGCGATGAGTTCTGAGGTGAATCGGATGGGAACGTAATAACACTGGCTTGAGCTAGTAAAGAT... |
Task1_train_13405 | A sequence alteration has been identified in SETX (senataxin) on Chromosome 9. Is it disease-inducing or harmless? | Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | GAAAAAGAGTCTCTGTCTTTTCTTCCTTTACTGGATTCTTTTCCTCCTTACTATTAACTGTTGAAACGTGCTGCTCTGGATGTTCCCTCTCAAGGCATATTTTGTCCTGTTTAGTGAGTTTCTCAAGACTCAGGATTCTTTCATCATCATCATCATCAGAATCTGAAATAATAATAACCTGTCCACGGGAGGTATCTCCAACATTATTTTGGTTAGCTGTGAAACATCTTTTATCTTCTTTTACTTTCCTTTGCAGCTGCGATGAGTTCTGAGGTGAATCGGATGGGAACGTAATAACACTGGCTTGAGCTAGTAAAGAT... | GAAAAAGAGTCTCTGTCTTTTCTTCCTTTACTGGATTCTTTTCCTCCTTACTATTAACTGTTGAAACGTGCTGCTCTGGATGTTCCCTCTCAAGGCATATTTTGTCCTGTTTAGTGAGTTTCTCAAGACTCAGGATTCTTTCATCATCATCATCATCAGAATCTGAAATAATAATAACCTGTCCACGGGAGGTATCTCCAACATTATTTTGGTTAGCTGTGAAACATCTTTTATCTTCTTTTACTTTCCTTTGCAGCTGCGATGAGTTCTGAGGTGAATCGGATGGGAACGTAATAACACTGGCTTGAGCTAGTAAAGAT... |
Task1_train_13406 | The gene SETX (senataxin), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Amyotrophic lateral sclerosis type 4 | GAAAAAGAGTCTCTGTCTTTTCTTCCTTTACTGGATTCTTTTCCTCCTTACTATTAACTGTTGAAACGTGCTGCTCTGGATGTTCCCTCTCAAGGCATATTTTGTCCTGTTTAGTGAGTTTCTCAAGACTCAGGATTCTTTCATCATCATCATCATCAGAATCTGAAATAATAATAACCTGTCCACGGGAGGTATCTCCAACATTATTTTGGTTAGCTGTGAAACATCTTTTATCTTCTTTTACTTTCCTTTGCAGCTGCGATGAGTTCTGAGGTGAATCGGATGGGAACGTAATAACACTGGCTTGAGCTAGTAAAGAT... | GAAAAAGAGTCTCTGTCTTTTCTTCCTTTACTGGATTCTTTTCCTCCTTACTATTAACTGTTGAAACGTGCTGCTCTGGATGTTCCCTCTCAAGGCATATTTTGTCCTGTTTAGTGAGTTTCTCAAGACTCAGGATTCTTTCATCATCATCATCATCAGAATCTGAAATAATAATAACCTGTCCACGGGAGGTATCTCCAACATTATTTTGGTTAGCTGTGAAACATCTTTTATCTTCTTTTACTTTCCTTTGCAGCTGCGATGAGTTCTGAGGTGAATCGGATGGGAACGTAATAACACTGGCTTGAGCTAGTAAAGAT... |
Task1_train_13407 | This mutation is located in gene SETX (senataxin) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | TGGGAGGCCGAGGCAGGAGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCTACACCCATAGTGAGACTTTGTCTCTAGCAAAAATTTAAAAATTAGCTGGGTAAGATGGCACATGCCTGTGGCCCCAGTTACTAGGGAGTCAGAGGCAGGAGGATGACTTGAGCCTGGGAGGTTAAGGCTGCAGTGAGACCTGATTGAGCCACTCCAGGGTGGGTGATAGTGAGATCCTGTCTCAAAAGAAAAAAAAAAAAAAAGGTGTTTGTTTTTTTTTAAGATGGTTAAGGGAGCTAGCTTAACAGAAAGGACAGAATTATACATG... | TGGGAGGCCGAGGCAGGAGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCTACACCCATAGTGAGACTTTGTCTCTAGCAAAAATTTAAAAATTAGCTGGGTAAGATGGCACATGCCTGTGGCCCCAGTTACTAGGGAGTCAGAGGCAGGAGGATGACTTGAGCCTGGGAGGTTAAGGCTGCAGTGAGACCTGATTGAGCCACTCCAGGGTGGGTGATAGTGAGATCCTGTCTCAAAAGAAAAAAAAAAAAAAAGGTGTTTGTTTTTTTTTAAGATGGTTAAGGGAGCTAGCTTAACAGAAAGGACAGAATTATACATG... |
Task1_train_13408 | The gene TSC1 (TSC complex subunit 1) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | CTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTAC... | CTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTAC... |
Task1_train_13409 | A variant was discovered on Chromosome 9, affecting TSC1 (TSC complex subunit 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Tuberous sclerosis 1 | CCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGA... | CCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGA... |
Task1_train_13410 | This sequence change occurs on Chromosome 9, altering TSC1 (TSC complex subunit 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Tuberous sclerosis 1 | TCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCC... | TCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCC... |
Task1_train_13411 | This gene mutation involves TSC1 (TSC complex subunit 1) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Tuberous sclerosis 1 | GAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGG... | GAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGG... |
Task1_train_13412 | This alteration occurs within gene TSC1 (TSC complex subunit 1) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Hereditary cancer-predisposing syndrome | CCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCA... | CCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCA... |
Task1_train_13413 | A mutation in TSC1 (TSC complex subunit 1), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Tuberous sclerosis 1 | CCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCA... | CCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCA... |
Task1_train_13414 | Located on Chromosome 9, this mutation impacts TSC1 (TSC complex subunit 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Tuberous sclerosis 1 | GCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAA... | GCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAA... |
Task1_train_13415 | A variant affecting Chromosome 9, within the gene GFI1B (growth factor independent 1B transcriptional repressor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Platelet-type bleeding disorder 17 | CTCACTGGAGGCCCAGTCTAGGGCTGGAGTTGGGTTGCTCAGAAAAACAGACTGGTCCAAAGTCTTCCCCGGGGTCTCCTCCTGGCCTCTTCTTGCCGCCGCCTGCTCTGGGCAGAGCCCGGGAGTGTGAGCCGCCAGAAGCAGCGGCACGTGGCTGTCTCTCTGGGCCTCCTCCTCCTAGGAAGGGCGTGCCCTCCTTGCTCCCTCTGGGCTTCCCAGAAACCGTGGCTATTGATGCTGATGGTCCTATCTCCCCACAGTGCCCAGAGACCAGGCTCCAAGCAACAGCCCTGTCCTTAGCACTCTATTCCCAAACCAGT... | CTCACTGGAGGCCCAGTCTAGGGCTGGAGTTGGGTTGCTCAGAAAAACAGACTGGTCCAAAGTCTTCCCCGGGGTCTCCTCCTGGCCTCTTCTTGCCGCCGCCTGCTCTGGGCAGAGCCCGGGAGTGTGAGCCGCCAGAAGCAGCGGCACGTGGCTGTCTCTCTGGGCCTCCTCCTCCTAGGAAGGGCGTGCCCTCCTTGCTCCCTCTGGGCTTCCCAGAAACCGTGGCTATTGATGCTGATGGTCCTATCTCCCCACAGTGCCCAGAGACCAGGCTCCAAGCAACAGCCCTGTCCTTAGCACTCTATTCCCAAACCAGT... |
Task1_train_13416 | This variant affects the gene GFI1B (growth factor independent 1B transcriptional repressor) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Platelet-type bleeding disorder 17 | TCCTGGCAGTAAGTATCTGGGTTGACACCCTGAAACCCTCCACATGAGGTGATGAAGGTAGTGGTGTGTGGTAGAGGGTGGTGGGAAGGGGGTGCCCTGTGTTTATTTTATTTCATTTTATTTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAACTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTTGGTAGAGACAGAGTTTCACCACGTTGGTCCG... | TCCTGGCAGTAAGTATCTGGGTTGACACCCTGAAACCCTCCACATGAGGTGATGAAGGTAGTGGTGTGTGGTAGAGGGTGGTGGGAAGGGGGTGCCCTGTGTTTATTTTATTTCATTTTATTTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAACTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTTGGTAGAGACAGAGTTTCACCACGTTGGTCCG... |
Task1_train_13417 | This variant affects gene GFI1B (growth factor independent 1B transcriptional repressor) located on Chromosome 9. Evaluate its biological effect and specify any disease association. | Pathogenic; Inborn genetic diseases | TGCCCTGTGTTTATTTTATTTCATTTTATTTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAACTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTTGGTAGAGACAGAGTTTCACCACGTTGGTCCGCCTGGTCTTGAACTCCCGACCTCAAGTGACCCACTTGCCTCAGCCTCCCAAAGTGCTGGAATTGCAGGCATGAGCCACGCCACTGTGCCCAA... | TGCCCTGTGTTTATTTTATTTCATTTTATTTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAACTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTTGGTAGAGACAGAGTTTCACCACGTTGGTCCGCCTGGTCTTGAACTCCCGACCTCAAGTGACCCACTTGCCTCAGCCTCCCAAAGTGCTGGAATTGCAGGCATGAGCCACGCCACTGTGCCCAA... |
Task1_train_13418 | A genomic change on Chromosome 9 affects GFI1B (growth factor independent 1B transcriptional repressor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | GCAATCCAGTGCCCCTTACTCTGTGTACCCAGCCTTGGCCAGAGCTGGGCATGGAAGAGACCATGGGACCCCAGGCCTGTCCCTGTCACCGCAGCCCCCAGTGGCCTCACATGCTGCCCCTGCTCCCAGGTCTTCTCCACCCCTCACGGGCTCGAAGTGCATGTGCGACGCTCCCATAGTGGGACCCGGCCCTTCGCCTGTGACATCTGCGGCAAAACCTTCGGCCACGCTGTGAGCCTGGAGCAGCACACGCACGTCCACTCCCAGGTGGGCACCTGGCCCAGCGCAGGACTCCCAGCCCCACTCCTTCTCTGTGCTTC... | GCAATCCAGTGCCCCTTACTCTGTGTACCCAGCCTTGGCCAGAGCTGGGCATGGAAGAGACCATGGGACCCCAGGCCTGTCCCTGTCACCGCAGCCCCCAGTGGCCTCACATGCTGCCCCTGCTCCCAGGTCTTCTCCACCCCTCACGGGCTCGAAGTGCATGTGCGACGCTCCCATAGTGGGACCCGGCCCTTCGCCTGTGACATCTGCGGCAAAACCTTCGGCCACGCTGTGAGCCTGGAGCAGCACACGCACGTCCACTCCCAGGTGGGCACCTGGCCCAGCGCAGGACTCCCAGCCCCACTCCTTCTCTGTGCTTC... |
Task1_train_13419 | Consider this mutation in SURF1 (SURF1 cytochrome c oxidase assembly factor) on Chromosome 9. Is this a benign change or a disease-causing variant? | Pathogenic; Leigh syndrome | ACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAAC... | ACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAAC... |
Task1_train_13420 | Here is a mutation in SURF1 (SURF1 cytochrome c oxidase assembly factor) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | CGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACC... | CGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACC... |
Task1_train_13421 | This sequence change occurs on Chromosome 9, altering SURF1 (SURF1 cytochrome c oxidase assembly factor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Leigh syndrome | GTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAG... | GTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAG... |
Task1_train_13422 | This variant impacts the gene SURF1 (SURF1 cytochrome c oxidase assembly factor) on Chromosome 9. Is the change likely to result in a pathogenic outcome? | Pathogenic; Mitochondrial complex IV deficiency, nuclear type 1 | AACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCA... | AACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCA... |
Task1_train_13423 | An alteration has been detected in SURF1 (SURF1 cytochrome c oxidase assembly factor) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Charcot-Marie-Tooth disease type 4K | AACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCA... | AACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCA... |
Task1_train_13424 | This is a variant in SURF1 (SURF1 cytochrome c oxidase assembly factor), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; Leigh syndrome | AACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCA... | AACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCA... |
Task1_train_13425 | Consider this mutation in SURF1 (SURF1 cytochrome c oxidase assembly factor) on Chromosome 9. Is this a benign change or a disease-causing variant? | Pathogenic; Mitochondrial complex IV deficiency, nuclear type 1 | ATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGT... | ATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGT... |
Task1_train_13426 | A sequence alteration has been identified in SURF1 (SURF1 cytochrome c oxidase assembly factor) on Chromosome 9. Is it disease-inducing or harmless? | Pathogenic; Leigh syndrome | ATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAG... | ATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAG... |
Task1_train_13427 | A change on Chromosome 9 affects gene SURF1 (SURF1 cytochrome c oxidase assembly factor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | AGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTC... | AGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTC... |
Task1_train_13428 | The following genetic variant occurs in SURF1 (SURF1 cytochrome c oxidase assembly factor) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Inborn genetic diseases | CTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCT... | CTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCT... |
Task1_train_13429 | The gene SURF1 (SURF1 cytochrome c oxidase assembly factor) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Leigh syndrome | CTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCT... | CTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCT... |
Task1_train_13430 | Given a variant located on Chromosome 9 and affecting SURF1 (SURF1 cytochrome c oxidase assembly factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Inborn genetic diseases | TGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCC... | TGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCC... |
Task1_train_13431 | This mutation is located in gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Upshaw-Schulman syndrome | CCCAGTCACCAAGGCCCCCTCTCACTCCGCTCCACTCCTCGGGCTGGCTCTCCTGAGGATGCACCAGCGTCACCCCCGGGCAAGATGCCCTCCCCTCTGTGTGGCCGGAATCCTTGCCTGTGGCTTTCTCCTGGGCTGCTGGGGACCCTCCCATTTCCAGCAGGTGGGCTCATTTGCAGGAGCGGGGGTATTCTGGGAGCCTCTGGGTGGGGTATTCTGAGCTACCTGGGGCGAGGGGAGTGCCAAATAGCTGACTACATCAGCTTTGGGGTTTGCGCTGGGCAGGGGAGTCTGTACTTGGGGCTTTGGGGGATGAAGTG... | CCCAGTCACCAAGGCCCCCTCTCACTCCGCTCCACTCCTCGGGCTGGCTCTCCTGAGGATGCACCAGCGTCACCCCCGGGCAAGATGCCCTCCCCTCTGTGTGGCCGGAATCCTTGCCTGTGGCTTTCTCCTGGGCTGCTGGGGACCCTCCCATTTCCAGCAGGTGGGCTCATTTGCAGGAGCGGGGGTATTCTGGGAGCCTCTGGGTGGGGTATTCTGAGCTACCTGGGGCGAGGGGAGTGCCAAATAGCTGACTACATCAGCTTTGGGGTTTGCGCTGGGCAGGGGAGTCTGTACTTGGGGCTTTGGGGGATGAAGTG... |
Task1_train_13432 | Gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Upshaw-Schulman syndrome | CTCTCACTCCGCTCCACTCCTCGGGCTGGCTCTCCTGAGGATGCACCAGCGTCACCCCCGGGCAAGATGCCCTCCCCTCTGTGTGGCCGGAATCCTTGCCTGTGGCTTTCTCCTGGGCTGCTGGGGACCCTCCCATTTCCAGCAGGTGGGCTCATTTGCAGGAGCGGGGGTATTCTGGGAGCCTCTGGGTGGGGTATTCTGAGCTACCTGGGGCGAGGGGAGTGCCAAATAGCTGACTACATCAGCTTTGGGGTTTGCGCTGGGCAGGGGAGTCTGTACTTGGGGCTTTGGGGGATGAAGTGTGCTCACTGAAGAGGGAG... | CTCTCACTCCGCTCCACTCCTCGGGCTGGCTCTCCTGAGGATGCACCAGCGTCACCCCCGGGCAAGATGCCCTCCCCTCTGTGTGGCCGGAATCCTTGCCTGTGGCTTTCTCCTGGGCTGCTGGGGACCCTCCCATTTCCAGCAGGTGGGCTCATTTGCAGGAGCGGGGGTATTCTGGGAGCCTCTGGGTGGGGTATTCTGAGCTACCTGGGGCGAGGGGAGTGCCAAATAGCTGACTACATCAGCTTTGGGGTTTGCGCTGGGCAGGGGAGTCTGTACTTGGGGCTTTGGGGGATGAAGTGTGCTCACTGAAGAGGGAG... |
Task1_train_13433 | This variant affects the gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Upshaw-Schulman syndrome | GTGACACGCAATGTCTTGACTTCGGAAGGCCATCCTTCCAAGACCTGCCAGCCCCTTTCCTGTTAGCTTTCCACTGCTTGCTCTCTAGAACCATCGCCCTCTGCTCTCCCTCTCCCCCTCCAGGCCGCCCTCCTTCCCCTGGCTTCCAGAGGCAGAGGCAGAGGCAGAGGCGGGCTGCAGGCGGCATCCTACACCTGGAGCTGCTGGTGGCCGTGGGCCCCGATGTCTTCCAGGCTCACCAGGAGGACACAGAGCGCTATGTGCTCACCAACCTCAACATCGTGAGTGCCCCACGCTGGACTGTGCAGGTCCCCACGGCC... | GTGACACGCAATGTCTTGACTTCGGAAGGCCATCCTTCCAAGACCTGCCAGCCCCTTTCCTGTTAGCTTTCCACTGCTTGCTCTCTAGAACCATCGCCCTCTGCTCTCCCTCTCCCCCTCCAGGCCGCCCTCCTTCCCCTGGCTTCCAGAGGCAGAGGCAGAGGCAGAGGCGGGCTGCAGGCGGCATCCTACACCTGGAGCTGCTGGTGGCCGTGGGCCCCGATGTCTTCCAGGCTCACCAGGAGGACACAGAGCGCTATGTGCTCACCAACCTCAACATCGTGAGTGCCCCACGCTGGACTGTGCAGGTCCCCACGGCC... |
Task1_train_13434 | Gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Upshaw-Schulman syndrome | TCTCTTCACATTTTGTATTTAATTTCAGTCTTTTCTTTACATACACACACATATTTCTTATTTGCAAAATTGGGATTTAGTTTGGATCCCTGAAAAAAAGGAAAATTGTGATTATGCTGTGCATTGCTTTGTTACCTGCTATTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGAAGTTTCGCTCTTGTTGCCCAGGCTGGAGGGCAATGACGTGATCTCAGCTCATTGCAACCTCCACCTCCTGGGTGCAAGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGC... | TCTCTTCACATTTTGTATTTAATTTCAGTCTTTTCTTTACATACACACACATATTTCTTATTTGCAAAATTGGGATTTAGTTTGGATCCCTGAAAAAAAGGAAAATTGTGATTATGCTGTGCATTGCTTTGTTACCTGCTATTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGAAGTTTCGCTCTTGTTGCCCAGGCTGGAGGGCAATGACGTGATCTCAGCTCATTGCAACCTCCACCTCCTGGGTGCAAGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGC... |
Task1_train_13435 | This is a variant in ADAMTS13, LOC130002910 (ADAM metallopeptidase with thrombospondin type 1 motif 13| ATAC-STARR-seq lymphoblastoid silent region 20458), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; Upshaw-Schulman syndrome | TTCTTATTTGCAAAATTGGGATTTAGTTTGGATCCCTGAAAAAAAGGAAAATTGTGATTATGCTGTGCATTGCTTTGTTACCTGCTATTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGAAGTTTCGCTCTTGTTGCCCAGGCTGGAGGGCAATGACGTGATCTCAGCTCATTGCAACCTCCACCTCCTGGGTGCAAGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCT... | TTCTTATTTGCAAAATTGGGATTTAGTTTGGATCCCTGAAAAAAAGGAAAATTGTGATTATGCTGTGCATTGCTTTGTTACCTGCTATTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGAAGTTTCGCTCTTGTTGCCCAGGCTGGAGGGCAATGACGTGATCTCAGCTCATTGCAACCTCCACCTCCTGGGTGCAAGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCT... |
Task1_train_13436 | A mutation in ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | CCCTTCCTCCACAAAAAAATTGAGAATTATGTTTTAATATTCTTATACAATGTATAAAGTTTTATGTGTTACTATAAATACAAGTCTTTTTTTTTCCTATTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTCTGCTCACTGCAGGCTCCGCCTGCCAGATTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCCTGGCCT... | CCCTTCCTCCACAAAAAAATTGAGAATTATGTTTTAATATTCTTATACAATGTATAAAGTTTTATGTGTTACTATAAATACAAGTCTTTTTTTTTCCTATTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTCTGCTCACTGCAGGCTCCGCCTGCCAGATTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCCTGGCCT... |
Task1_train_13437 | This mutation occurs in ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) on Chromosome 9. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Upshaw-Schulman syndrome | GATTCCCGGGCCTACGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCCAGCTAAGTTTTGTATTTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCGGGCTGGTCTCGAATTCTGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGATAAGCCACCACACCCAGCCTAGTTCATTTTTTTCTTCTGATTTTATTTTATTTATTTATTTATTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAAGCTCTGCCTTCAGG... | GATTCCCGGGCCTACGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCCAGCTAAGTTTTGTATTTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCGGGCTGGTCTCGAATTCTGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGATAAGCCACCACACCCAGCCTAGTTCATTTTTTTCTTCTGATTTTATTTTATTTATTTATTTATTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAAGCTCTGCCTTCAGG... |
Task1_train_13438 | An alteration has been detected in ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | GAAACTGCCAAACCGTTTTCCACAGTGCCTGAACTGTTTCACATTCCCACCAGCATTGCGCCAGGGTTCCAGTTTCCCCACATCCGCTGCAGCACTTGCTGTTTTCTGTTGTTGTTTTTTCTTTTCTCTTCTTTTTTTTTTTTTTTTTTTTAATAGAGATGGGGTTTTGTCATGTTGGCCAGGCTGGTCTTGAACTCCGACCCCAGGTGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACACGCGTGAGCCATGGCGCCCGGCCTGTTTTCTGTTTTTTGATTTTGGCCATCTCGGTGGTATGAAATGGTAGAA... | GAAACTGCCAAACCGTTTTCCACAGTGCCTGAACTGTTTCACATTCCCACCAGCATTGCGCCAGGGTTCCAGTTTCCCCACATCCGCTGCAGCACTTGCTGTTTTCTGTTGTTGTTTTTTCTTTTCTCTTCTTTTTTTTTTTTTTTTTTTTAATAGAGATGGGGTTTTGTCATGTTGGCCAGGCTGGTCTTGAACTCCGACCCCAGGTGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACACGCGTGAGCCATGGCGCCCGGCCTGTTTTCTGTTTTTTGATTTTGGCCATCTCGGTGGTATGAAATGGTAGAA... |
Task1_train_13439 | A mutation in ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Thrombotic thrombocytopenic purpura | CCAGGTGTGTGGTGGGGACAACAGCACGTGCAGCCCACGGAAGGGCTCTTTCACAGCTGGCAGAGCGAGAGGTAGGCGGCCTCCCTCGGGGCAGAGGCTGGGCTTCCCCCAGCCTCCAAGATGGCCACAGCCCAGAGCGTTGGTGCAGGGGCTGCTCAGGTCACAGGGCCTGCACACTCACTCAGCCCTGGATGCCTCCTGTGGTGTCAGCGTCTCCCTCTTCCACTTCGCCACCCTTCTGTGGCAGGCTCAGGTTTTGGCCTTGATGCTGCTGGGACTGTGGTGCCTCAGTAATGGTCACTCACTGTAGCCGTGCTGCA... | CCAGGTGTGTGGTGGGGACAACAGCACGTGCAGCCCACGGAAGGGCTCTTTCACAGCTGGCAGAGCGAGAGGTAGGCGGCCTCCCTCGGGGCAGAGGCTGGGCTTCCCCCAGCCTCCAAGATGGCCACAGCCCAGAGCGTTGGTGCAGGGGCTGCTCAGGTCACAGGGCCTGCACACTCACTCAGCCCTGGATGCCTCCTGTGGTGTCAGCGTCTCCCTCTTCCACTTCGCCACCCTTCTGTGGCAGGCTCAGGTTTTGGCCTTGATGCTGCTGGGACTGTGGTGCCTCAGTAATGGTCACTCACTGTAGCCGTGCTGCA... |
Task1_train_13440 | Chromosome 9 houses a mutation in gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Upshaw-Schulman syndrome | CGAGGACCGGCTGCCCCGCCTGGAGGAGATCCGCATCTGGGGACCCCTCCAGGAAGATGCTGACATCCAGGTCAGCAGGAGAGCCTGGGGGAGGCCAGTGGGGGCTTCTTCTTGGGGGCTATGGCTGCTTGCTCGTTTGTCTATCCATCCATTCCCTGATTCGTTCATTTATTCATTCAGCGGTCACTTACAGGGGACCCACTATGTGTTGGGCCCTGTGCTAGGCAAAATGTAGCTAGCTCCTCCAGGGGCTTAGGGTCCCACAAATATCCAAATGTGCCTGTGCCCAGAGCCCGTGGGAGAAGGCCCTGCAGTTCTGG... | CGAGGACCGGCTGCCCCGCCTGGAGGAGATCCGCATCTGGGGACCCCTCCAGGAAGATGCTGACATCCAGGTCAGCAGGAGAGCCTGGGGGAGGCCAGTGGGGGCTTCTTCTTGGGGGCTATGGCTGCTTGCTCGTTTGTCTATCCATCCATTCCCTGATTCGTTCATTTATTCATTCAGCGGTCACTTACAGGGGACCCACTATGTGTTGGGCCCTGTGCTAGGCAAAATGTAGCTAGCTCCTCCAGGGGCTTAGGGTCCCACAAATATCCAAATGTGCCTGTGCCCAGAGCCCGTGGGAGAAGGCCCTGCAGTTCTGG... |
Task1_train_13441 | Given this variant in gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Thrombotic thrombocytopenic purpura | CCTGTGCTAGGCAAAATGTAGCTAGCTCCTCCAGGGGCTTAGGGTCCCACAAATATCCAAATGTGCCTGTGCCCAGAGCCCGTGGGAGAAGGCCCTGCAGTTCTGGGATCAGGTAAGGTTGGAGGGCCCAATGCAGGGGTCCAGGGCTCCCTGGGAAAGAGTGATGGAGCTGAGGTGTCAGATGAGCAGATGTTGCTGGGCCAAGCAGGGAAGGAAGCGTATGGCTGAGGGAACAGTGTCAGTGTGGGAGGGATGAAGGAAGGTCCTACTGTGTGGGTTTGTGGGGAGATGAAGGCATGGACGCAGGTGCAGTGGCATCT... | CCTGTGCTAGGCAAAATGTAGCTAGCTCCTCCAGGGGCTTAGGGTCCCACAAATATCCAAATGTGCCTGTGCCCAGAGCCCGTGGGAGAAGGCCCTGCAGTTCTGGGATCAGGTAAGGTTGGAGGGCCCAATGCAGGGGTCCAGGGCTCCCTGGGAAAGAGTGATGGAGCTGAGGTGTCAGATGAGCAGATGTTGCTGGGCCAAGCAGGGAAGGAAGCGTATGGCTGAGGGAACAGTGTCAGTGTGGGAGGGATGAAGGAAGGTCCTACTGTGTGGGTTTGTGGGGAGATGAAGGCATGGACGCAGGTGCAGTGGCATCT... |
Task1_train_13442 | Here is a genetic alteration in ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Upshaw-Schulman syndrome | CAGTTCTTTTGGGTGTATATCTAGAAGTGTGGTAGCTGGGTAAGATGAGAATTCTATGTTTAATTTTTGTGGAACTGCTGGACTGTTTTCCCCAGTGGCTGCACCATTTTACATTTCCACTAATGGTGCATAAGAGTTCCAATGTCCTCCCATCCTTGCCAACACTTTTTATTTCTATGGTTTTTTTTGTTTTTGTTTTTGTTTTTGAGACAGAGTCTCATTCTGTTGCCGAGGCTGGAGTGCAGTGGCATGATCTTGGCTCATTGTAACCTTCGCCTCCGGGGCTCAAGTGATTCTCGTGCTTCAGCCTCCCGAGTAGC... | CAGTTCTTTTGGGTGTATATCTAGAAGTGTGGTAGCTGGGTAAGATGAGAATTCTATGTTTAATTTTTGTGGAACTGCTGGACTGTTTTCCCCAGTGGCTGCACCATTTTACATTTCCACTAATGGTGCATAAGAGTTCCAATGTCCTCCCATCCTTGCCAACACTTTTTATTTCTATGGTTTTTTTTGTTTTTGTTTTTGTTTTTGAGACAGAGTCTCATTCTGTTGCCGAGGCTGGAGTGCAGTGGCATGATCTTGGCTCATTGTAACCTTCGCCTCCGGGGCTCAAGTGATTCTCGTGCTTCAGCCTCCCGAGTAGC... |
Task1_train_13443 | This is a variant in ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; Thrombotic thrombocytopenic purpura | TTCTCTTGCCCATACAAAATTGTTTTAAATGTTGTAGCTTTATAACCATTTAACATCTGTGTCACTAGTGTGTCCTGATTTCTTTGCCTATGCTAAAGTCCCTTGGCTGTGTGTCCCATTTATTTTTCCACATCACATTTAGAGATGATCTGGGATTTTATGGGAATTGCAGGGTTTTTCACACTGCACGCTGCCTGCATGGTGCTTAAACTTCACCTCCCACACCTAGCACAGCCTACCAGGTAGCCCTGTTCTCTACAGACCACCTCTTGGGCCACTGAGCCTCCCCTCACTTTTTTTTAGAGATGGGGTCTCACTAT... | TTCTCTTGCCCATACAAAATTGTTTTAAATGTTGTAGCTTTATAACCATTTAACATCTGTGTCACTAGTGTGTCCTGATTTCTTTGCCTATGCTAAAGTCCCTTGGCTGTGTGTCCCATTTATTTTTCCACATCACATTTAGAGATGATCTGGGATTTTATGGGAATTGCAGGGTTTTTCACACTGCACGCTGCCTGCATGGTGCTTAAACTTCACCTCCCACACCTAGCACAGCCTACCAGGTAGCCCTGTTCTCTACAGACCACCTCTTGGGCCACTGAGCCTCCCCTCACTTTTTTTTAGAGATGGGGTCTCACTAT... |
Task1_train_13444 | Gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Upshaw-Schulman syndrome | TTCTCTTGCCCATACAAAATTGTTTTAAATGTTGTAGCTTTATAACCATTTAACATCTGTGTCACTAGTGTGTCCTGATTTCTTTGCCTATGCTAAAGTCCCTTGGCTGTGTGTCCCATTTATTTTTCCACATCACATTTAGAGATGATCTGGGATTTTATGGGAATTGCAGGGTTTTTCACACTGCACGCTGCCTGCATGGTGCTTAAACTTCACCTCCCACACCTAGCACAGCCTACCAGGTAGCCCTGTTCTCTACAGACCACCTCTTGGGCCACTGAGCCTCCCCTCACTTTTTTTTAGAGATGGGGTCTCACTAT... | TTCTCTTGCCCATACAAAATTGTTTTAAATGTTGTAGCTTTATAACCATTTAACATCTGTGTCACTAGTGTGTCCTGATTTCTTTGCCTATGCTAAAGTCCCTTGGCTGTGTGTCCCATTTATTTTTCCACATCACATTTAGAGATGATCTGGGATTTTATGGGAATTGCAGGGTTTTTCACACTGCACGCTGCCTGCATGGTGCTTAAACTTCACCTCCCACACCTAGCACAGCCTACCAGGTAGCCCTGTTCTCTACAGACCACCTCTTGGGCCACTGAGCCTCCCCTCACTTTTTTTTAGAGATGGGGTCTCACTAT... |
Task1_train_13445 | A mutation in ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Upshaw-Schulman syndrome | TGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCCTGGGTGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGATGAGTGAGACTCCATCTCAAAAACAAAAACAAACAAACAAAAATTACAAAAATTAGCCAGGCATGATGGCACATGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGTGAGAGGATGGCTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCCGTGATCACACCACTGCCCTCCAGCCTGGGTGACAGGGCGAGACCGTGTCTCAAAGAAAACCAT... | TGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCCTGGGTGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGATGAGTGAGACTCCATCTCAAAAACAAAAACAAACAAACAAAAATTACAAAAATTAGCCAGGCATGATGGCACATGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGTGAGAGGATGGCTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCCGTGATCACACCACTGCCCTCCAGCCTGGGTGACAGGGCGAGACCGTGTCTCAAAGAAAACCAT... |
Task1_train_13446 | Assess the clinical impact of this variant on gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13), found on Chromosome 9. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Upshaw-Schulman syndrome | AGGGGCTCGCTTCCTGTTGCTGTTACTTGGGTCCATAGGCAACCCCTGGGGTGCTGACAGGTGTTCTGTGATAAAGGCGACTAGAGGGGGATGTGCAATTAGGGAAACAGGGGCCTCTTCCCCCTAGGGCCTTTTGGTAGCTCTCCTGTGGCCGTGAGCCCTGGCCCCAGACAGGAGGGGCTCAGTGGCTGCACTTTCCATCTTGCCTGGCCACGGAAGCTGTCTAGGCAACTGTCCGAGTACACGTGGGTGGAGAGGGGCCTGCGTGGGGCAGTACTGTCTCTGGGGAGACCTAGCCTCTCTCTGGGGTCTTCTCTTCC... | AGGGGCTCGCTTCCTGTTGCTGTTACTTGGGTCCATAGGCAACCCCTGGGGTGCTGACAGGTGTTCTGTGATAAAGGCGACTAGAGGGGGATGTGCAATTAGGGAAACAGGGGCCTCTTCCCCCTAGGGCCTTTTGGTAGCTCTCCTGTGGCCGTGAGCCCTGGCCCCAGACAGGAGGGGCTCAGTGGCTGCACTTTCCATCTTGCCTGGCCACGGAAGCTGTCTAGGCAACTGTCCGAGTACACGTGGGTGGAGAGGGGCCTGCGTGGGGCAGTACTGTCTCTGGGGAGACCTAGCCTCTCTCTGGGGTCTTCTCTTCC... |
Task1_train_13447 | This genomic variant is located on Chromosome 9, within the ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Upshaw-Schulman syndrome | CCTGTTGCTGTTACTTGGGTCCATAGGCAACCCCTGGGGTGCTGACAGGTGTTCTGTGATAAAGGCGACTAGAGGGGGATGTGCAATTAGGGAAACAGGGGCCTCTTCCCCCTAGGGCCTTTTGGTAGCTCTCCTGTGGCCGTGAGCCCTGGCCCCAGACAGGAGGGGCTCAGTGGCTGCACTTTCCATCTTGCCTGGCCACGGAAGCTGTCTAGGCAACTGTCCGAGTACACGTGGGTGGAGAGGGGCCTGCGTGGGGCAGTACTGTCTCTGGGGAGACCTAGCCTCTCTCTGGGGTCTTCTCTTCCTGCAGGTGGAAA... | CCTGTTGCTGTTACTTGGGTCCATAGGCAACCCCTGGGGTGCTGACAGGTGTTCTGTGATAAAGGCGACTAGAGGGGGATGTGCAATTAGGGAAACAGGGGCCTCTTCCCCCTAGGGCCTTTTGGTAGCTCTCCTGTGGCCGTGAGCCCTGGCCCCAGACAGGAGGGGCTCAGTGGCTGCACTTTCCATCTTGCCTGGCCACGGAAGCTGTCTAGGCAACTGTCCGAGTACACGTGGGTGGAGAGGGGCCTGCGTGGGGCAGTACTGTCTCTGGGGAGACCTAGCCTCTCTCTGGGGTCTTCTCTTCCTGCAGGTGGAAA... |
Task1_train_13448 | Here’s a variant in MYMK (myomaker, myoblast fusion factor) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Congenital nonprogressive myopathy with Moebius and Robin sequences | CAGGTGGACTGGAAGCGTACAGAGGCAGTGCCATGCCTGTCCCTCAACCCCAGGTCAGGGCTTAGAAGTTGGGTGTCTTCAGCCCTATGATGGGGACACGTAGGACATGTTCCAGTTCCCCTGCTGGGTGGATGGGCTTGGAGCCCTGGATGCTGGAGCCTTGGCTTGCTCATACCCTGAGAGCTGGGGAGAGGGCGCCAGCCTTGGGCTGCTCTGCATTCAAAGACTCCGGGGCCAGGAAAGGGCTGAGCTTGGCTGTCCTCTATGCCTGCCCTTCAAGGCCAGGAGGGACGCCAGGTGAGGAAGGGGCAGGCCAGGGC... | CAGGTGGACTGGAAGCGTACAGAGGCAGTGCCATGCCTGTCCCTCAACCCCAGGTCAGGGCTTAGAAGTTGGGTGTCTTCAGCCCTATGATGGGGACACGTAGGACATGTTCCAGTTCCCCTGCTGGGTGGATGGGCTTGGAGCCCTGGATGCTGGAGCCTTGGCTTGCTCATACCCTGAGAGCTGGGGAGAGGGCGCCAGCCTTGGGCTGCTCTGCATTCAAAGACTCCGGGGCCAGGAAAGGGCTGAGCTTGGCTGTCCTCTATGCCTGCCCTTCAAGGCCAGGAGGGACGCCAGGTGAGGAAGGGGCAGGCCAGGGC... |
Task1_train_13449 | This sequence change occurs on Chromosome 9, altering MYMK (myomaker, myoblast fusion factor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Congenital nonprogressive myopathy with Moebius and Robin sequences | TTTCCACGCTGGGGACGGCGTGCAGGGCTAAAAGCCAGCATGCGGGTGCTGAGGGCCAGAAGCGGAGCTCACACCTCCCACACCAACCACTCTAGAGGGGCAGCCCCCGCTCTGGGCCCTGAACAAGCGGCTGGGGTGGGAGGGATGACGCTTGGCTGAGTCTTGTTTTAAGGGTTAGGACGTATATAAAGTGTCTGGGGTGCAGTGAGGTTGATACATTGAGGCACTTCTTATTGGTTATAATGAAAACTGCTTGATTCAGGGACCCAGCGGGAGGGGTGGGGCCAGAGTGGGCTGGGCCAGGGATCCAGCTGGCCCCG... | TTTCCACGCTGGGGACGGCGTGCAGGGCTAAAAGCCAGCATGCGGGTGCTGAGGGCCAGAAGCGGAGCTCACACCTCCCACACCAACCACTCTAGAGGGGCAGCCCCCGCTCTGGGCCCTGAACAAGCGGCTGGGGTGGGAGGGATGACGCTTGGCTGAGTCTTGTTTTAAGGGTTAGGACGTATATAAAGTGTCTGGGGTGCAGTGAGGTTGATACATTGAGGCACTTCTTATTGGTTATAATGAAAACTGCTTGATTCAGGGACCCAGCGGGAGGGGTGGGGCCAGAGTGGGCTGGGCCAGGGATCCAGCTGGCCCCG... |
Task1_train_13450 | This alteration in MYMK (myomaker, myoblast fusion factor) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Congenital nonprogressive myopathy with Moebius and Robin sequences | CCCTAGCCCAGGCTGGAGTCCCAGAGGAGCGAATGCAGTGGCATTTGGGTGAGTCAGGAGCTCTGGAGAGCTTGATGGTCACAGTGACACAAGTGACTCTGTCTCTCTGGGATTTGGTTTCTTCATCTGCCAAATGGGAATCAAGATCCTAGGCTTGTGGGGAAGGTGAAAAGGCTGAATCAGACACTGTGCACAGAGCGCCTAGCCGAGTCCTCTGCCCTGGGTACTGGCGCTCGAGGTGGACTCAGAAGCTCCAGGGCATCTGGTTCCACAAAGGACCCAGCCTGTCCCAGGCCACTGTCACCCCTGGGAGTGGCACA... | CCCTAGCCCAGGCTGGAGTCCCAGAGGAGCGAATGCAGTGGCATTTGGGTGAGTCAGGAGCTCTGGAGAGCTTGATGGTCACAGTGACACAAGTGACTCTGTCTCTCTGGGATTTGGTTTCTTCATCTGCCAAATGGGAATCAAGATCCTAGGCTTGTGGGGAAGGTGAAAAGGCTGAATCAGACACTGTGCACAGAGCGCCTAGCCGAGTCCTCTGCCCTGGGTACTGGCGCTCGAGGTGGACTCAGAAGCTCCAGGGCATCTGGTTCCACAAAGGACCCAGCCTGTCCCAGGCCACTGTCACCCCTGGGAGTGGCACA... |
Task1_train_13451 | An alteration has been detected in ADAMTSL2 (ADAMTS like 2) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | AAAATCTGCAGGTGCCGGGCCTGCAAGGAAACTCTTCAAGTTGGATGGAGGCTGCTGAGGAGGGAGGGGCAGAGCCCGAGTTGGCCTCTGGCCTGGCAGGGGTGAGGGGTGACCTCCATGCCTTCTTCCCCTGGAATTGGCCAGGCGTGGGGGTCGAGTCCCTGAGTTTGCTAGTGTGCTACCTTGCTGTGTGGCTTTGAGCAGGTTGGCTCCCCTCTCTGGGCTCCAGGTTATGAGTGCAGGCTGCGTGGTTTCTGAAATCCCTTCTCTAACTCGCTGGCAAGTGACCCTCAGCACCTGAGCAAGGCCTGGACAGAGGT... | AAAATCTGCAGGTGCCGGGCCTGCAAGGAAACTCTTCAAGTTGGATGGAGGCTGCTGAGGAGGGAGGGGCAGAGCCCGAGTTGGCCTCTGGCCTGGCAGGGGTGAGGGGTGACCTCCATGCCTTCTTCCCCTGGAATTGGCCAGGCGTGGGGGTCGAGTCCCTGAGTTTGCTAGTGTGCTACCTTGCTGTGTGGCTTTGAGCAGGTTGGCTCCCCTCTCTGGGCTCCAGGTTATGAGTGCAGGCTGCGTGGTTTCTGAAATCCCTTCTCTAACTCGCTGGCAAGTGACCCTCAGCACCTGAGCAAGGCCTGGACAGAGGT... |
Task1_train_13452 | A variant was discovered in gene ADAMTSL2 (ADAMTS like 2), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Geleophysic dysplasia 1 | GGGGGGCCCTGGGCTAGTACGGAGCCATCCACTGTCCAGACCACTGTCCCTGTGCTCACATGTGCTCAGCAATGCTGGGACGGGCGGACTCACTCTGCTCCTGGAACTTCAAGTGCAGCCTCAAGGTTTGGGGTCTCTGGTCGCAGCTCCACTTTACTCACAACATTCGTGCACCTGGTGCTCACAGAGACCCAGCAGTTGCCAGGCTTCCCCGTCCCATGAAACAGTACCCCCCACGCCATAAAACAGTTCCCTGGGTTGCTCTCGGAGCCCTTCTGCTCCAGCCCCCATCAGCTTCCTTGGGTAGCCGAGGCTGAAGA... | GGGGGGCCCTGGGCTAGTACGGAGCCATCCACTGTCCAGACCACTGTCCCTGTGCTCACATGTGCTCAGCAATGCTGGGACGGGCGGACTCACTCTGCTCCTGGAACTTCAAGTGCAGCCTCAAGGTTTGGGGTCTCTGGTCGCAGCTCCACTTTACTCACAACATTCGTGCACCTGGTGCTCACAGAGACCCAGCAGTTGCCAGGCTTCCCCGTCCCATGAAACAGTACCCCCCACGCCATAAAACAGTTCCCTGGGTTGCTCTCGGAGCCCTTCTGCTCCAGCCCCCATCAGCTTCCTTGGGTAGCCGAGGCTGAAGA... |
Task1_train_13453 | The gene ADAMTSL2 (ADAMTS like 2), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Geleophysic dysplasia 1 | ATGTGCTCAGCAATGCTGGGACGGGCGGACTCACTCTGCTCCTGGAACTTCAAGTGCAGCCTCAAGGTTTGGGGTCTCTGGTCGCAGCTCCACTTTACTCACAACATTCGTGCACCTGGTGCTCACAGAGACCCAGCAGTTGCCAGGCTTCCCCGTCCCATGAAACAGTACCCCCCACGCCATAAAACAGTTCCCTGGGTTGCTCTCGGAGCCCTTCTGCTCCAGCCCCCATCAGCTTCCTTGGGTAGCCGAGGCTGAAGAGGAGGTTCTGACTCTGACCAGGCAGCTCTCAGTGGGGCCCTGGGCAGTTGGAACCTGAA... | ATGTGCTCAGCAATGCTGGGACGGGCGGACTCACTCTGCTCCTGGAACTTCAAGTGCAGCCTCAAGGTTTGGGGTCTCTGGTCGCAGCTCCACTTTACTCACAACATTCGTGCACCTGGTGCTCACAGAGACCCAGCAGTTGCCAGGCTTCCCCGTCCCATGAAACAGTACCCCCCACGCCATAAAACAGTTCCCTGGGTTGCTCTCGGAGCCCTTCTGCTCCAGCCCCCATCAGCTTCCTTGGGTAGCCGAGGCTGAAGAGGAGGTTCTGACTCTGACCAGGCAGCTCTCAGTGGGGCCCTGGGCAGTTGGAACCTGAA... |
Task1_train_13454 | Mutation context: Chromosome 9, Gene ADAMTSL2 (ADAMTS like 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Abnormal facial shape | ATGTGCTCAGCAATGCTGGGACGGGCGGACTCACTCTGCTCCTGGAACTTCAAGTGCAGCCTCAAGGTTTGGGGTCTCTGGTCGCAGCTCCACTTTACTCACAACATTCGTGCACCTGGTGCTCACAGAGACCCAGCAGTTGCCAGGCTTCCCCGTCCCATGAAACAGTACCCCCCACGCCATAAAACAGTTCCCTGGGTTGCTCTCGGAGCCCTTCTGCTCCAGCCCCCATCAGCTTCCTTGGGTAGCCGAGGCTGAAGAGGAGGTTCTGACTCTGACCAGGCAGCTCTCAGTGGGGCCCTGGGCAGTTGGAACCTGAA... | ATGTGCTCAGCAATGCTGGGACGGGCGGACTCACTCTGCTCCTGGAACTTCAAGTGCAGCCTCAAGGTTTGGGGTCTCTGGTCGCAGCTCCACTTTACTCACAACATTCGTGCACCTGGTGCTCACAGAGACCCAGCAGTTGCCAGGCTTCCCCGTCCCATGAAACAGTACCCCCCACGCCATAAAACAGTTCCCTGGGTTGCTCTCGGAGCCCTTCTGCTCCAGCCCCCATCAGCTTCCTTGGGTAGCCGAGGCTGAAGAGGAGGTTCTGACTCTGACCAGGCAGCTCTCAGTGGGGCCCTGGGCAGTTGGAACCTGAA... |
Task1_train_13455 | This alteration occurs within gene ADAMTSL2 (ADAMTS like 2) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Geleophysic dysplasia 1 | GGCCCTGGGCAGTTGGAACCTGAACACCTTTCCAAGGACTGCAGGGCGTGAGGCTGGGGCACGCCGAGCTGGGATCTGGGCCTCCCAGGCTGGCTCGTGTGGCTTGCCTGGGCAGGGAAGGCAGAGCAGCTGGGGGTCTCTGTGTCTGTGTGTCTCAGGGGGTGTGTGCGCACGTGCAGGGAGTGAGGGGCTGGAGGGAGGCAGGTGGCCACCGCTTCTGTGTTGGCGTCACCTGGTCAGCTGCCCTCCTAGGGCAGTGCAGCCAGGGTTGGGGGAGGGGCATTTATGAGCTCCAGCATGAGAGGGACCCAGGTTTGAGC... | GGCCCTGGGCAGTTGGAACCTGAACACCTTTCCAAGGACTGCAGGGCGTGAGGCTGGGGCACGCCGAGCTGGGATCTGGGCCTCCCAGGCTGGCTCGTGTGGCTTGCCTGGGCAGGGAAGGCAGAGCAGCTGGGGGTCTCTGTGTCTGTGTGTCTCAGGGGGTGTGTGCGCACGTGCAGGGAGTGAGGGGCTGGAGGGAGGCAGGTGGCCACCGCTTCTGTGTTGGCGTCACCTGGTCAGCTGCCCTCCTAGGGCAGTGCAGCCAGGGTTGGGGGAGGGGCATTTATGAGCTCCAGCATGAGAGGGACCCAGGTTTGAGC... |
Task1_train_13456 | This is a variant in ADAMTSL2 (ADAMTS like 2), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; Geleophysic dysplasia 1 | TGTTCGCGCACCTGCGGAGAGGGCTACCAGTTCCGCGTCGTGCGCTGCTGGAAGATGCTCTCGCCCGGCTTCGACAGCTCCGTGTACAGCGACCTGTGCGAGGCAGCCGAGGCCGTGCGGCCCGAGGAACGCAAGACCTGCCGGAACCCCGCCTGCGGGCCCCAGTGGGAGATGTCGGAGTGGTCCGAGGTGAGTGCCTGCGGGAGCAAGCCGGGGGTCGGGAAGAGCTGGGGAGCTGGGCTTGGGAGATGGAGGTGGCTACACCTGTGTCACACCCCCCCTGCCCCCTCCCCCTGCCGCCCCAGTGCACTGCCAAGTGT... | TGTTCGCGCACCTGCGGAGAGGGCTACCAGTTCCGCGTCGTGCGCTGCTGGAAGATGCTCTCGCCCGGCTTCGACAGCTCCGTGTACAGCGACCTGTGCGAGGCAGCCGAGGCCGTGCGGCCCGAGGAACGCAAGACCTGCCGGAACCCCGCCTGCGGGCCCCAGTGGGAGATGTCGGAGTGGTCCGAGGTGAGTGCCTGCGGGAGCAAGCCGGGGGTCGGGAAGAGCTGGGGAGCTGGGCTTGGGAGATGGAGGTGGCTACACCTGTGTCACACCCCCCCTGCCCCCTCCCCCTGCCGCCCCAGTGCACTGCCAAGTGT... |
Task1_train_13457 | Here is a mutation in COL5A1 (collagen type V alpha 1 chain) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | GGTAGGGGCGGGGGCACTCCAAGGACCAAGCACAGCTGGGGCTGGCGCGGAGTCTGGGGTTTGATGGAATTTCTCACTCATTGAAGTCCACAGGGAAAGTAAAGGGCCAGTGGCTGCAGGTTAACCAACGCACAGACACGCACACAGGCACACACACAAACACACACATGCACACAACTCACACACATTTTTGCCTGATCACATATGCCTTATACAAGTTGTAAAACAAAATAAAATCAACAAGGAAACAGGTCAGAACTAACATTTGCTTTACTGAATGTATCTCAAGCACCTCCCCACGTCTGTGTGTGAAGAGCTTC... | GGTAGGGGCGGGGGCACTCCAAGGACCAAGCACAGCTGGGGCTGGCGCGGAGTCTGGGGTTTGATGGAATTTCTCACTCATTGAAGTCCACAGGGAAAGTAAAGGGCCAGTGGCTGCAGGTTAACCAACGCACAGACACGCACACAGGCACACACACAAACACACACATGCACACAACTCACACACATTTTTGCCTGATCACATATGCCTTATACAAGTTGTAAAACAAAATAAAATCAACAAGGAAACAGGTCAGAACTAACATTTGCTTTACTGAATGTATCTCAAGCACCTCCCCACGTCTGTGTGTGAAGAGCTTC... |
Task1_train_13458 | A variant found in Chromosome 9 affects COL5A1 (collagen type V alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | GTAGGGGCGGGGGCACTCCAAGGACCAAGCACAGCTGGGGCTGGCGCGGAGTCTGGGGTTTGATGGAATTTCTCACTCATTGAAGTCCACAGGGAAAGTAAAGGGCCAGTGGCTGCAGGTTAACCAACGCACAGACACGCACACAGGCACACACACAAACACACACATGCACACAACTCACACACATTTTTGCCTGATCACATATGCCTTATACAAGTTGTAAAACAAAATAAAATCAACAAGGAAACAGGTCAGAACTAACATTTGCTTTACTGAATGTATCTCAAGCACCTCCCCACGTCTGTGTGTGAAGAGCTTCT... | GTAGGGGCGGGGGCACTCCAAGGACCAAGCACAGCTGGGGCTGGCGCGGAGTCTGGGGTTTGATGGAATTTCTCACTCATTGAAGTCCACAGGGAAAGTAAAGGGCCAGTGGCTGCAGGTTAACCAACGCACAGACACGCACACAGGCACACACACAAACACACACATGCACACAACTCACACACATTTTTGCCTGATCACATATGCCTTATACAAGTTGTAAAACAAAATAAAATCAACAAGGAAACAGGTCAGAACTAACATTTGCTTTACTGAATGTATCTCAAGCACCTCCCCACGTCTGTGTGTGAAGAGCTTCT... |
Task1_train_13459 | A variant found in Chromosome 9 affects COL5A1 (collagen type V alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TCACTCATTGAAGTCCACAGGGAAAGTAAAGGGCCAGTGGCTGCAGGTTAACCAACGCACAGACACGCACACAGGCACACACACAAACACACACATGCACACAACTCACACACATTTTTGCCTGATCACATATGCCTTATACAAGTTGTAAAACAAAATAAAATCAACAAGGAAACAGGTCAGAACTAACATTTGCTTTACTGAATGTATCTCAAGCACCTCCCCACGTCTGTGTGTGAAGAGCTTCTCATTCTTTTCCTGCGAAATATTTGATATCTATGCAAGCGCATGTGGCAGATATGGAGACTAAAAGCCTCATC... | TCACTCATTGAAGTCCACAGGGAAAGTAAAGGGCCAGTGGCTGCAGGTTAACCAACGCACAGACACGCACACAGGCACACACACAAACACACACATGCACACAACTCACACACATTTTTGCCTGATCACATATGCCTTATACAAGTTGTAAAACAAAATAAAATCAACAAGGAAACAGGTCAGAACTAACATTTGCTTTACTGAATGTATCTCAAGCACCTCCCCACGTCTGTGTGTGAAGAGCTTCTCATTCTTTTCCTGCGAAATATTTGATATCTATGCAAGCGCATGTGGCAGATATGGAGACTAAAAGCCTCATC... |
Task1_train_13460 | Here is a mutation in COL5A1 (collagen type V alpha 1 chain) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | AGTGGCTGCAGGTTAACCAACGCACAGACACGCACACAGGCACACACACAAACACACACATGCACACAACTCACACACATTTTTGCCTGATCACATATGCCTTATACAAGTTGTAAAACAAAATAAAATCAACAAGGAAACAGGTCAGAACTAACATTTGCTTTACTGAATGTATCTCAAGCACCTCCCCACGTCTGTGTGTGAAGAGCTTCTCATTCTTTTCCTGCGAAATATTTGATATCTATGCAAGCGCATGTGGCAGATATGGAGACTAAAAGCCTCATCACCAAGTTAGCAACAGCGACCTATCACCCAGCTCC... | AGTGGCTGCAGGTTAACCAACGCACAGACACGCACACAGGCACACACACAAACACACACATGCACACAACTCACACACATTTTTGCCTGATCACATATGCCTTATACAAGTTGTAAAACAAAATAAAATCAACAAGGAAACAGGTCAGAACTAACATTTGCTTTACTGAATGTATCTCAAGCACCTCCCCACGTCTGTGTGTGAAGAGCTTCTCATTCTTTTCCTGCGAAATATTTGATATCTATGCAAGCGCATGTGGCAGATATGGAGACTAAAAGCCTCATCACCAAGTTAGCAACAGCGACCTATCACCCAGCTCC... |
Task1_train_13461 | A variant found in Chromosome 9 affects COL5A1 (collagen type V alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | CGTTCATCGCGGTGCTCACCGCTGCCATAACCACATGCACTGTCTCCCTAGGGCGAGCCTGGCGAAGCAGGTGAGCCTGGCCTTCCGGGAGAAGGCGGCCCCCCGGTGAGTGAGCGGGCGCTGCGGGAGGGGTGGGATATGGCCGAGCGGGTGTGTGGACGGGGTGCTGGGTTGGAGGCTCTGGCTCTGCCTTAGCTTTTCCATCCACGAAATGGGAGTTGTAACCCCTCTTGTGCCCATTTCATGGAATGACCGTGAACAAGGTGTGTGATGTGGGAGTCAGCATGTACACGCAGACCTAGCAATAGCTACCTGTGCCC... | CGTTCATCGCGGTGCTCACCGCTGCCATAACCACATGCACTGTCTCCCTAGGGCGAGCCTGGCGAAGCAGGTGAGCCTGGCCTTCCGGGAGAAGGCGGCCCCCCGGTGAGTGAGCGGGCGCTGCGGGAGGGGTGGGATATGGCCGAGCGGGTGTGTGGACGGGGTGCTGGGTTGGAGGCTCTGGCTCTGCCTTAGCTTTTCCATCCACGAAATGGGAGTTGTAACCCCTCTTGTGCCCATTTCATGGAATGACCGTGAACAAGGTGTGTGATGTGGGAGTCAGCATGTACACGCAGACCTAGCAATAGCTACCTGTGCCC... |
Task1_train_13462 | This gene mutation involves COL5A1, LOC101448202 (collagen type V alpha 1 chain| uncharacterized LOC101448202) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | GGGAGCCCAAGGCTGAGTAGTTATGTCCCCCGGAGCCCTGCGACCTCATGCCTGGTCTTTGAGTCGGCCAGACCTGAGCCGCCTACCTCTGAAGTGGACCGTGTCCGATGGTGACCGTGTCTGCTGCGGGGCCCGTGCAGAAGATGGGACGCCGTCACCCATGCAGTTGGCTTGGGGCCTGGCCCAGAGCACACGGGAGGCTATTCTGTCAGTGAGGTGATGGCGGCCCGGCCTGGCACTGTCTGCCTCCCTCCTGGAGGCGCCTGTTGTTAAGGAGACGGGAGGTTGTGCGGTTCCATCCCTGCTCGGGCAGTGGCGCT... | GGGAGCCCAAGGCTGAGTAGTTATGTCCCCCGGAGCCCTGCGACCTCATGCCTGGTCTTTGAGTCGGCCAGACCTGAGCCGCCTACCTCTGAAGTGGACCGTGTCCGATGGTGACCGTGTCTGCTGCGGGGCCCGTGCAGAAGATGGGACGCCGTCACCCATGCAGTTGGCTTGGGGCCTGGCCCAGAGCACACGGGAGGCTATTCTGTCAGTGAGGTGATGGCGGCCCGGCCTGGCACTGTCTGCCTCCCTCCTGGAGGCGCCTGTTGTTAAGGAGACGGGAGGTTGTGCGGTTCCATCCCTGCTCGGGCAGTGGCGCT... |
Task1_train_13463 | The following genetic variant occurs in COL5A1, LOC101448202 (collagen type V alpha 1 chain| uncharacterized LOC101448202) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | AAGGCTGAGTAGTTATGTCCCCCGGAGCCCTGCGACCTCATGCCTGGTCTTTGAGTCGGCCAGACCTGAGCCGCCTACCTCTGAAGTGGACCGTGTCCGATGGTGACCGTGTCTGCTGCGGGGCCCGTGCAGAAGATGGGACGCCGTCACCCATGCAGTTGGCTTGGGGCCTGGCCCAGAGCACACGGGAGGCTATTCTGTCAGTGAGGTGATGGCGGCCCGGCCTGGCACTGTCTGCCTCCCTCCTGGAGGCGCCTGTTGTTAAGGAGACGGGAGGTTGTGCGGTTCCATCCCTGCTCGGGCAGTGGCGCTGTGACACC... | AAGGCTGAGTAGTTATGTCCCCCGGAGCCCTGCGACCTCATGCCTGGTCTTTGAGTCGGCCAGACCTGAGCCGCCTACCTCTGAAGTGGACCGTGTCCGATGGTGACCGTGTCTGCTGCGGGGCCCGTGCAGAAGATGGGACGCCGTCACCCATGCAGTTGGCTTGGGGCCTGGCCCAGAGCACACGGGAGGCTATTCTGTCAGTGAGGTGATGGCGGCCCGGCCTGGCACTGTCTGCCTCCCTCCTGGAGGCGCCTGTTGTTAAGGAGACGGGAGGTTGTGCGGTTCCATCCCTGCTCGGGCAGTGGCGCTGTGACACC... |
Task1_train_13464 | This is a variant in COL5A1, LOC101448202 (collagen type V alpha 1 chain| uncharacterized LOC101448202), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | AAGGCTGAGTAGTTATGTCCCCCGGAGCCCTGCGACCTCATGCCTGGTCTTTGAGTCGGCCAGACCTGAGCCGCCTACCTCTGAAGTGGACCGTGTCCGATGGTGACCGTGTCTGCTGCGGGGCCCGTGCAGAAGATGGGACGCCGTCACCCATGCAGTTGGCTTGGGGCCTGGCCCAGAGCACACGGGAGGCTATTCTGTCAGTGAGGTGATGGCGGCCCGGCCTGGCACTGTCTGCCTCCCTCCTGGAGGCGCCTGTTGTTAAGGAGACGGGAGGTTGTGCGGTTCCATCCCTGCTCGGGCAGTGGCGCTGTGACACC... | AAGGCTGAGTAGTTATGTCCCCCGGAGCCCTGCGACCTCATGCCTGGTCTTTGAGTCGGCCAGACCTGAGCCGCCTACCTCTGAAGTGGACCGTGTCCGATGGTGACCGTGTCTGCTGCGGGGCCCGTGCAGAAGATGGGACGCCGTCACCCATGCAGTTGGCTTGGGGCCTGGCCCAGAGCACACGGGAGGCTATTCTGTCAGTGAGGTGATGGCGGCCCGGCCTGGCACTGTCTGCCTCCCTCCTGGAGGCGCCTGTTGTTAAGGAGACGGGAGGTTGTGCGGTTCCATCCCTGCTCGGGCAGTGGCGCTGTGACACC... |
Task1_train_13465 | A variant affecting Chromosome 9, within the gene COL5A1, LOC101448202 (collagen type V alpha 1 chain| uncharacterized LOC101448202), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | TAGGCTGGCCGGGGGCAGGTAGGACCACCCTGTGTCTCCACGAGGGGTGAGCACCAGCCAGGCCCCGACCCTCCTCCCACTCTAGCCGGGCAAATACAAGCATAGACTCTTGAGGGGGATGCGGGTGGGAGAGGGGCGAGGGGCGAGACCAGGCTGGGCAGGACATGGAGCACGGTGGGGCTGGAGCTGAGACCCGGCTTGCTGACGTTCTGCCCTCCTCTCTCTGCAGGGTCCGCCTGGTCCAAAAGGTGCTAAGGGCTCCTCGGTAAGTAACATGCTGCCCAGCCAGGCCAATGCCTGGAAGGTAGGGGAGGGCGACG... | TAGGCTGGCCGGGGGCAGGTAGGACCACCCTGTGTCTCCACGAGGGGTGAGCACCAGCCAGGCCCCGACCCTCCTCCCACTCTAGCCGGGCAAATACAAGCATAGACTCTTGAGGGGGATGCGGGTGGGAGAGGGGCGAGGGGCGAGACCAGGCTGGGCAGGACATGGAGCACGGTGGGGCTGGAGCTGAGACCCGGCTTGCTGACGTTCTGCCCTCCTCTCTCTGCAGGGTCCGCCTGGTCCAAAAGGTGCTAAGGGCTCCTCGGTAAGTAACATGCTGCCCAGCCAGGCCAATGCCTGGAAGGTAGGGGAGGGCGACG... |
Task1_train_13466 | A mutation on Chromosome 9 affecting COL5A1, LOC101448202 (collagen type V alpha 1 chain| uncharacterized LOC101448202) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | ACGTGCATCCTGTATATGTGCATGCATGTGTAATGTGTGTGTACATGGTTTGTATGTGCATGTGTGTGTGCATGATGTGTGTATGGGTATGCATGCATATATGTGGGGCACATATGTGTGTGCATGTGTAGTGTGTGTATATTGTATACGTGCATGCATGGCCGTGTGTGTGTGCATATGTATATGTGTACATGCATGTCTGGGATATATGTGCATGTGTGTGTGTGTGTTGGGATGGGGGAGCACTAGACAAGGCCCTGGAGGTGAAAGGTGAAGCCCAGTTTGAACCAGGGCATGGCGAGTGCACTATTGGACACCCC... | ACGTGCATCCTGTATATGTGCATGCATGTGTAATGTGTGTGTACATGGTTTGTATGTGCATGTGTGTGTGCATGATGTGTGTATGGGTATGCATGCATATATGTGGGGCACATATGTGTGTGCATGTGTAGTGTGTGTATATTGTATACGTGCATGCATGGCCGTGTGTGTGTGCATATGTATATGTGTACATGCATGTCTGGGATATATGTGCATGTGTGTGTGTGTGTTGGGATGGGGGAGCACTAGACAAGGCCCTGGAGGTGAAAGGTGAAGCCCAGTTTGAACCAGGGCATGGCGAGTGCACTATTGGACACCCC... |
Task1_train_13467 | Here is a genetic alteration in LOC101928525, MRPS2 (uncharacterized LOC101928525| mitochondrial ribosomal protein S2) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Combined oxidative phosphorylation deficiency 36 | GGGAGGTGCCAGAAAGACCTGAGCAACCCGCTGGGCCCCTCTCTTTTTCTCCTCTGTCTTCCAAGTAAGACCAAGGGACGGGGTTGACCAGGTTCGACCAGGCTTACCCAGGAGCAAGGTCGGGATCAGAACCTGGCTCCAGCCCTCTGTTTCCTGAAAAGGTCCCTGTGCTTCCAGGTCTTTCCTGGGGCTGCTGGGCTCCCGGCTCCCCACCTCGGTGTCACAGAAGGCACTTGGGAGCAGGGGTGGGCGGGAACTGCGCTCTGCCTGTCTCTGCTGCCACCGGTGGGAGACGCAGCGTCGCTCCTCCTCCCTGCCGT... | GGGAGGTGCCAGAAAGACCTGAGCAACCCGCTGGGCCCCTCTCTTTTTCTCCTCTGTCTTCCAAGTAAGACCAAGGGACGGGGTTGACCAGGTTCGACCAGGCTTACCCAGGAGCAAGGTCGGGATCAGAACCTGGCTCCAGCCCTCTGTTTCCTGAAAAGGTCCCTGTGCTTCCAGGTCTTTCCTGGGGCTGCTGGGCTCCCGGCTCCCCACCTCGGTGTCACAGAAGGCACTTGGGAGCAGGGGTGGGCGGGAACTGCGCTCTGCCTGTCTCTGCTGCCACCGGTGGGAGACGCAGCGTCGCTCCTCCTCCCTGCCGT... |
Task1_train_13468 | A genetic alteration is present in LOC101928525, MRPS2 (uncharacterized LOC101928525| mitochondrial ribosomal protein S2) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Combined oxidative phosphorylation deficiency 36 | AAAGACCTGAGCAACCCGCTGGGCCCCTCTCTTTTTCTCCTCTGTCTTCCAAGTAAGACCAAGGGACGGGGTTGACCAGGTTCGACCAGGCTTACCCAGGAGCAAGGTCGGGATCAGAACCTGGCTCCAGCCCTCTGTTTCCTGAAAAGGTCCCTGTGCTTCCAGGTCTTTCCTGGGGCTGCTGGGCTCCCGGCTCCCCACCTCGGTGTCACAGAAGGCACTTGGGAGCAGGGGTGGGCGGGAACTGCGCTCTGCCTGTCTCTGCTGCCACCGGTGGGAGACGCAGCGTCGCTCCTCCTCCCTGCCGTAGATTTCAACGA... | AAAGACCTGAGCAACCCGCTGGGCCCCTCTCTTTTTCTCCTCTGTCTTCCAAGTAAGACCAAGGGACGGGGTTGACCAGGTTCGACCAGGCTTACCCAGGAGCAAGGTCGGGATCAGAACCTGGCTCCAGCCCTCTGTTTCCTGAAAAGGTCCCTGTGCTTCCAGGTCTTTCCTGGGGCTGCTGGGCTCCCGGCTCCCCACCTCGGTGTCACAGAAGGCACTTGGGAGCAGGGGTGGGCGGGAACTGCGCTCTGCCTGTCTCTGCTGCCACCGGTGGGAGACGCAGCGTCGCTCCTCCTCCCTGCCGTAGATTTCAACGA... |
Task1_train_13469 | A variant found in Chromosome 9 affects KCNT1 (potassium sodium-activated channel subfamily T member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | TCCCATGTCTCCATCTGAGACCAGAGAGGGTCTTTCACACCCACCCCTATCATGTTCCAGAGGGGTCAGTAGATGCCTGTGCTGAGAGGGGTTCCGTGGGGGAAAACCAGGTCCACTGAGCCTCCATCTCCGTTCCCTCCCCACCAGGGCAGCGGGATAGCCGCTCTCTGGTGTCTTCCTGAGCGTCCTGCCTCACCCACTGCACCCTCCATCCCACCCTGGGCCTAGAGTGGGCGGCCCAGGAGGACCATGGTTTCAAGACTCCATCTGCCCTCGGCCCTGGCGGGGGTCAGCCAAAGGCCTTGGTGGCTAAGACTGTC... | TCCCATGTCTCCATCTGAGACCAGAGAGGGTCTTTCACACCCACCCCTATCATGTTCCAGAGGGGTCAGTAGATGCCTGTGCTGAGAGGGGTTCCGTGGGGGAAAACCAGGTCCACTGAGCCTCCATCTCCGTTCCCTCCCCACCAGGGCAGCGGGATAGCCGCTCTCTGGTGTCTTCCTGAGCGTCCTGCCTCACCCACTGCACCCTCCATCCCACCCTGGGCCTAGAGTGGGCGGCCCAGGAGGACCATGGTTTCAAGACTCCATCTGCCCTCGGCCCTGGCGGGGGTCAGCCAAAGGCCTTGGTGGCTAAGACTGTC... |
Task1_train_13470 | Gene KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | CATGTCTCCATCTGAGACCAGAGAGGGTCTTTCACACCCACCCCTATCATGTTCCAGAGGGGTCAGTAGATGCCTGTGCTGAGAGGGGTTCCGTGGGGGAAAACCAGGTCCACTGAGCCTCCATCTCCGTTCCCTCCCCACCAGGGCAGCGGGATAGCCGCTCTCTGGTGTCTTCCTGAGCGTCCTGCCTCACCCACTGCACCCTCCATCCCACCCTGGGCCTAGAGTGGGCGGCCCAGGAGGACCATGGTTTCAAGACTCCATCTGCCCTCGGCCCTGGCGGGGGTCAGCCAAAGGCCTTGGTGGCTAAGACTGTCCTG... | CATGTCTCCATCTGAGACCAGAGAGGGTCTTTCACACCCACCCCTATCATGTTCCAGAGGGGTCAGTAGATGCCTGTGCTGAGAGGGGTTCCGTGGGGGAAAACCAGGTCCACTGAGCCTCCATCTCCGTTCCCTCCCCACCAGGGCAGCGGGATAGCCGCTCTCTGGTGTCTTCCTGAGCGTCCTGCCTCACCCACTGCACCCTCCATCCCACCCTGGGCCTAGAGTGGGCGGCCCAGGAGGACCATGGTTTCAAGACTCCATCTGCCCTCGGCCCTGGCGGGGGTCAGCCAAAGGCCTTGGTGGCTAAGACTGTCCTG... |
Task1_train_13471 | This variant impacts the gene KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Is the change likely to result in a pathogenic outcome? | Pathogenic; Developmental and epileptic encephalopathy, 14 | GAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCT... | GAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCT... |
Task1_train_13472 | The gene KCNT1 (potassium sodium-activated channel subfamily T member 1), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5 | GAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCT... | GAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCT... |
Task1_train_13473 | A mutation found in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Developmental and epileptic encephalopathy, 14 | GAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCT... | GAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCT... |
Task1_train_13474 | This genomic variant is located on Chromosome 9, within the KCNT1 (potassium sodium-activated channel subfamily T member 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5 | GAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCT... | GAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCT... |
Task1_train_13475 | This is a variant in KCNT1 (potassium sodium-activated channel subfamily T member 1), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; Developmental and epileptic encephalopathy, 14 | CACTGCCTGACTGCCTTGTCTCCTTTCTCCCGTGTGGGGCAGGCAGAGCAGGCCCTGAGTGGGACAAGCTCTGAGCGAGGCAGGGAGGAAGGCGGGGGCAGGGCCTGGGGGCTGGCGCACCCTCCCTCCCATCAGCCCTGCCGGACCTGGTGCTCAAACCTGACCCAGGTGGGCCTGTGCTGTCCCTGGCAGGGCTGGGGGTGATTGGGACAGTGATGCCGCTGACCCCACCGTCTAAGCCGCTCCCTGCCTCCTCCGAATGACTGGAAAGACTGAGCCTCTCACTGGCGATGGTAAGGGTGGGCTGCAGTGCCCTTGCC... | CACTGCCTGACTGCCTTGTCTCCTTTCTCCCGTGTGGGGCAGGCAGAGCAGGCCCTGAGTGGGACAAGCTCTGAGCGAGGCAGGGAGGAAGGCGGGGGCAGGGCCTGGGGGCTGGCGCACCCTCCCTCCCATCAGCCCTGCCGGACCTGGTGCTCAAACCTGACCCAGGTGGGCCTGTGCTGTCCCTGGCAGGGCTGGGGGTGATTGGGACAGTGATGCCGCTGACCCCACCGTCTAAGCCGCTCCCTGCCTCCTCCGAATGACTGGAAAGACTGAGCCTCTCACTGGCGATGGTAAGGGTGGGCTGCAGTGCCCTTGCC... |
Task1_train_13476 | The gene KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5 | CACTGCCTGACTGCCTTGTCTCCTTTCTCCCGTGTGGGGCAGGCAGAGCAGGCCCTGAGTGGGACAAGCTCTGAGCGAGGCAGGGAGGAAGGCGGGGGCAGGGCCTGGGGGCTGGCGCACCCTCCCTCCCATCAGCCCTGCCGGACCTGGTGCTCAAACCTGACCCAGGTGGGCCTGTGCTGTCCCTGGCAGGGCTGGGGGTGATTGGGACAGTGATGCCGCTGACCCCACCGTCTAAGCCGCTCCCTGCCTCCTCCGAATGACTGGAAAGACTGAGCCTCTCACTGGCGATGGTAAGGGTGGGCTGCAGTGCCCTTGCC... | CACTGCCTGACTGCCTTGTCTCCTTTCTCCCGTGTGGGGCAGGCAGAGCAGGCCCTGAGTGGGACAAGCTCTGAGCGAGGCAGGGAGGAAGGCGGGGGCAGGGCCTGGGGGCTGGCGCACCCTCCCTCCCATCAGCCCTGCCGGACCTGGTGCTCAAACCTGACCCAGGTGGGCCTGTGCTGTCCCTGGCAGGGCTGGGGGTGATTGGGACAGTGATGCCGCTGACCCCACCGTCTAAGCCGCTCCCTGCCTCCTCCGAATGACTGGAAAGACTGAGCCTCTCACTGGCGATGGTAAGGGTGGGCTGCAGTGCCCTTGCC... |
Task1_train_13477 | Given a variant located on Chromosome 9 and affecting KCNT1 (potassium sodium-activated channel subfamily T member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Developmental and epileptic encephalopathy, 14 | CAGGGCCTGGGGGCTGGCGCACCCTCCCTCCCATCAGCCCTGCCGGACCTGGTGCTCAAACCTGACCCAGGTGGGCCTGTGCTGTCCCTGGCAGGGCTGGGGGTGATTGGGACAGTGATGCCGCTGACCCCACCGTCTAAGCCGCTCCCTGCCTCCTCCGAATGACTGGAAAGACTGAGCCTCTCACTGGCGATGGTAAGGGTGGGCTGCAGTGCCCTTGCCCTTGGTCTCCACTGGGCTGAATGCACCAGTAAAAGCCCTTGAAGCAGAGTGATGACCCCGAGGCCCTCGCTCACGAGCGTCCTTCTGGAACACAGCAG... | CAGGGCCTGGGGGCTGGCGCACCCTCCCTCCCATCAGCCCTGCCGGACCTGGTGCTCAAACCTGACCCAGGTGGGCCTGTGCTGTCCCTGGCAGGGCTGGGGGTGATTGGGACAGTGATGCCGCTGACCCCACCGTCTAAGCCGCTCCCTGCCTCCTCCGAATGACTGGAAAGACTGAGCCTCTCACTGGCGATGGTAAGGGTGGGCTGCAGTGCCCTTGCCCTTGGTCTCCACTGGGCTGAATGCACCAGTAAAAGCCCTTGAAGCAGAGTGATGACCCCGAGGCCCTCGCTCACGAGCGTCCTTCTGGAACACAGCAG... |
Task1_train_13478 | A variant has been detected on Chromosome 9 in KCNT1 (potassium sodium-activated channel subfamily T member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5 | CAGGGCCTGGGGGCTGGCGCACCCTCCCTCCCATCAGCCCTGCCGGACCTGGTGCTCAAACCTGACCCAGGTGGGCCTGTGCTGTCCCTGGCAGGGCTGGGGGTGATTGGGACAGTGATGCCGCTGACCCCACCGTCTAAGCCGCTCCCTGCCTCCTCCGAATGACTGGAAAGACTGAGCCTCTCACTGGCGATGGTAAGGGTGGGCTGCAGTGCCCTTGCCCTTGGTCTCCACTGGGCTGAATGCACCAGTAAAAGCCCTTGAAGCAGAGTGATGACCCCGAGGCCCTCGCTCACGAGCGTCCTTCTGGAACACAGCAG... | CAGGGCCTGGGGGCTGGCGCACCCTCCCTCCCATCAGCCCTGCCGGACCTGGTGCTCAAACCTGACCCAGGTGGGCCTGTGCTGTCCCTGGCAGGGCTGGGGGTGATTGGGACAGTGATGCCGCTGACCCCACCGTCTAAGCCGCTCCCTGCCTCCTCCGAATGACTGGAAAGACTGAGCCTCTCACTGGCGATGGTAAGGGTGGGCTGCAGTGCCCTTGCCCTTGGTCTCCACTGGGCTGAATGCACCAGTAAAAGCCCTTGAAGCAGAGTGATGACCCCGAGGCCCTCGCTCACGAGCGTCCTTCTGGAACACAGCAG... |
Task1_train_13479 | Gene KCNT1 (potassium sodium-activated channel subfamily T member 1), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5 | TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTC... | TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTC... |
Task1_train_13480 | Consider this mutation in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Is this a benign change or a disease-causing variant? | Pathogenic; Developmental and epileptic encephalopathy, 14 | TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTC... | TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTC... |
Task1_train_13481 | This variant affects gene KCNT1 (potassium sodium-activated channel subfamily T member 1) located on Chromosome 9. Evaluate its biological effect and specify any disease association. | Pathogenic; See cases | TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTC... | TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTC... |
Task1_train_13482 | A variant has been detected on Chromosome 9 in KCNT1 (potassium sodium-activated channel subfamily T member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5 | TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTC... | TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTC... |
Task1_train_13483 | A change on Chromosome 9 affects gene KCNT1 (potassium sodium-activated channel subfamily T member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 14 | TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTC... | TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTC... |
Task1_train_13484 | A variant was discovered on Chromosome 9, affecting KCNT1 (potassium sodium-activated channel subfamily T member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Developmental and epileptic encephalopathy, 14 | CCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGT... | CCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGT... |
Task1_train_13485 | Gene KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 14 | CCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGT... | CCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGT... |
Task1_train_13486 | This variant affects gene KCNT1 (potassium sodium-activated channel subfamily T member 1) located on Chromosome 9. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5 | CCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGT... | CCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGT... |
Task1_train_13487 | A variant affecting Chromosome 9, within the gene KCNT1 (potassium sodium-activated channel subfamily T member 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | TCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGG... | TCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGG... |
Task1_train_13488 | A genetic alteration is present in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Developmental and epileptic encephalopathy, 14 | CCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACAACAAGAGCATCCTGCTGAACCCGGGGCCCCGGCACATCCTGGCCGCCTCTGACACCTGCTTCTACATCAACATCACCAAGGAGGAGAACTCGGCC... | CCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACAACAAGAGCATCCTGCTGAACCCGGGGCCCCGGCACATCCTGGCCGCCTCTGACACCTGCTTCTACATCAACATCACCAAGGAGGAGAACTCGGCC... |
Task1_train_13489 | This variant impacts the gene KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Is the change likely to result in a pathogenic outcome? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5 | CCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACAACAAGAGCATCCTGCTGAACCCGGGGCCCCGGCACATCCTGGCCGCCTCTGACACCTGCTTCTACATCAACATCACCAAGGAGGAGAACTCGGCC... | CCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACAACAAGAGCATCCTGCTGAACCCGGGGCCCCGGCACATCCTGGCCGCCTCTGACACCTGCTTCTACATCAACATCACCAAGGAGGAGAACTCGGCC... |
Task1_train_13490 | This is a variant in KCNT1 (potassium sodium-activated channel subfamily T member 1), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; Developmental and epileptic encephalopathy, 14 | CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTA... | CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTA... |
Task1_train_13491 | An alteration has been detected in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Developmental and epileptic encephalopathy, 14 | CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTA... | CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTA... |
Task1_train_13492 | A mutation on Chromosome 9 affecting KCNT1 (potassium sodium-activated channel subfamily T member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5 | CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTA... | CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTA... |
Task1_train_13493 | This mutation occurs in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5 | CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTA... | CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTA... |
Task1_train_13494 | A genomic change on Chromosome 9 affects KCNT1 (potassium sodium-activated channel subfamily T member 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 14 | CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTA... | CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTA... |
Task1_train_13495 | A variant found in Chromosome 9 affects KCNT1 (potassium sodium-activated channel subfamily T member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5 | TTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTAT... | TTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTAT... |
Task1_train_13496 | An alteration has been detected in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | TTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTAT... | TTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTAT... |
Task1_train_13497 | This alteration occurs within gene KCNT1 (potassium sodium-activated channel subfamily T member 1) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Developmental and epileptic encephalopathy, 14 | GGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCC... | GGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCC... |
Task1_train_13498 | This genomic variant is located on Chromosome 9, within the KCNT1 (potassium sodium-activated channel subfamily T member 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5 | GGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCC... | GGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCC... |
Task1_train_13499 | Gene KCNT1 (potassium sodium-activated channel subfamily T member 1), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Developmental and epileptic encephalopathy, 14 | ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAA... | ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAA... |
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