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_24400 | A sequence alteration has been identified in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGG... | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGG... |
Task1_train_24401 | This mutation occurs in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; STAT3 gain of function | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGG... | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGG... |
Task1_train_24402 | This is a variant in STAT3 (signal transducer and activator of transcription 3), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGG... | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGG... |
Task1_train_24403 | A sequence alteration has been identified in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGG... | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGG... |
Task1_train_24404 | A genomic change on Chromosome 17 affects STAT3 (signal transducer and activator of transcription 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Inherited Immunodeficiency Diseases | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGG... | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGG... |
Task1_train_24405 | This variant affects the gene STAT3 (signal transducer and activator of transcription 3) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; STAT3 gain of function | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGG... | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGG... |
Task1_train_24406 | The gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGG... | TGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGG... |
Task1_train_24407 | A variant on Chromosome 17 in gene STAT3 (signal transducer and activator of transcription 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGC... | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGC... |
Task1_train_24408 | Here’s a variant in STAT3 (signal transducer and activator of transcription 3) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGC... | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGC... |
Task1_train_24409 | A sequence alteration has been identified in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGC... | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGC... |
Task1_train_24410 | A variant affecting Chromosome 17, within the gene STAT3 (signal transducer and activator of transcription 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGC... | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGC... |
Task1_train_24411 | Gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; STAT3 gain of function | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGC... | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGC... |
Task1_train_24412 | Located on Chromosome 17, this mutation impacts STAT3 (signal transducer and activator of transcription 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGC... | GCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGC... |
Task1_train_24413 | Consider a variant on Chromosome 17 in gene STAT3 (signal transducer and activator of transcription 3). Determine its clinical classification and disease relevance. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | AAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAG... | AAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAG... |
Task1_train_24414 | This variant affects the gene STAT3 (signal transducer and activator of transcription 3) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; STAT3 gain of function | AAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAG... | AAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAG... |
Task1_train_24415 | The variant affects gene STAT3 (signal transducer and activator of transcription 3), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | GCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGT... | GCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGT... |
Task1_train_24416 | A variant was discovered on Chromosome 17, affecting STAT3 (signal transducer and activator of transcription 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | AGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTC... | AGCTGTCTATAATTACAGGCTCACATCTATAATCTCAGCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTC... |
Task1_train_24417 | The gene STAT3 (signal transducer and activator of transcription 3), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Inborn genetic diseases | GCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCG... | GCACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCG... |
Task1_train_24418 | A genetic alteration is present in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | CACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGT... | CACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGT... |
Task1_train_24419 | A sequence alteration has been identified in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; STAT3 gain of function | CACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGT... | CACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGT... |
Task1_train_24420 | Located on Chromosome 17, this mutation impacts STAT3 (signal transducer and activator of transcription 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | CACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGT... | CACTGTGGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGT... |
Task1_train_24421 | This alteration in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | GGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCG... | GGGAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCG... |
Task1_train_24422 | The gene STAT3 (signal transducer and activator of transcription 3), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | GAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCA... | GAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCA... |
Task1_train_24423 | Consider a variant on Chromosome 17 in gene STAT3 (signal transducer and activator of transcription 3). Determine its clinical classification and disease relevance. | Pathogenic; STAT3 gain of function | GAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCA... | GAGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCA... |
Task1_train_24424 | A variant was discovered in gene STAT3 (signal transducer and activator of transcription 3), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | AGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAA... | AGGCCAAGCTGGGAGGATCCCTTGAGCCCAGGAGTTCCATAACAGTCTGGGCAACAAAGTGAGAGCCCACATCTATAAAAAATTTAAAAATTAGCGGGGTGTGGTAGCATGTACCTGTAGTCGCAGTTACTCGGGAGGCTGAGGCAAGAGGATCACTTGTGCCCAGGAGTTCAAGGCTACAGTGATCTATGATCATGCCACTGCACTCTAGCCTAGATGACAGAGCGAGATCCTATCTCTCTTTCTCTTTTTTTTTTTTTGAGACAGTTTCTCTCGTTACCCAGGCTGGAGTGCAATGGCGCAATCTCCGTTCACCGCAA... |
Task1_train_24425 | This alteration in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | CCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGTGAGAGTTTTCTGCACGTACTCCATCGCTGACAAAAGCCCCGCCAGCTCACTCACGATGCTCTGGTTGGAAACC... | CCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGTGAGAGTTTTCTGCACGTACTCCATCGCTGACAAAAGCCCCGCCAGCTCACTCACGATGCTCTGGTTGGAAACC... |
Task1_train_24426 | This mutation occurs in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; STAT3 gain of function | CCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGTGAGAGTTTTCTGCACGTACTCCATCGCTGACAAAAGCCCCGCCAGCTCACTCACGATGCTCTGGTTGGAAACC... | CCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGTGAGAGTTTTCTGCACGTACTCCATCGCTGACAAAAGCCCCGCCAGCTCACTCACGATGCTCTGGTTGGAAACC... |
Task1_train_24427 | This variant affects gene STAT3 (signal transducer and activator of transcription 3) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | CCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGTGAGAGTTTTCTGCACGTACTCCATCGCTGACAAAAGCCCCGCCAGCTCACTCACGATGCTCTGGTTGGAAACC... | CCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGTGAGAGTTTTCTGCACGTACTCCATCGCTGACAAAAGCCCCGCCAGCTCACTCACGATGCTCTGGTTGGAAACC... |
Task1_train_24428 | Chromosome 17 houses a mutation in gene ATP6V0A1 (ATPase H+ transporting V0 subunit a1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Developmental and epileptic encephalopathy 104 | AGGAACTGTTTTAAGCAAAATGTTTCTTCTAAGATGTCTGATATTTTTAAATGGCTTTTTTTTTGGCTTCCCTGTTCCAAGGTTAGACAGAAAAAATGTAGCAAGTATTGGCCACTTTAGGTACAACACAGATTTCTCCTATATTTGGAGAGTTAATTATTAAATCAAGAGTGTGAGTATTCATTTTCAGTTGGAGCCCTATGGAAGAACTGCTTTGCTCTGGGCTCTCTCCATCTGTACGTTATCTGATATTTAGCTTTATATCACTGGGACATGGTTGCTGCACAAAGAGAAGACAGCTGGCCTGCCCTGGGAGCAGG... | AGGAACTGTTTTAAGCAAAATGTTTCTTCTAAGATGTCTGATATTTTTAAATGGCTTTTTTTTTGGCTTCCCTGTTCCAAGGTTAGACAGAAAAAATGTAGCAAGTATTGGCCACTTTAGGTACAACACAGATTTCTCCTATATTTGGAGAGTTAATTATTAAATCAAGAGTGTGAGTATTCATTTTCAGTTGGAGCCCTATGGAAGAACTGCTTTGCTCTGGGCTCTCTCCATCTGTACGTTATCTGATATTTAGCTTTATATCACTGGGACATGGTTGCTGCACAAAGAGAAGACAGCTGGCCTGCCCTGGGAGCAGG... |
Task1_train_24429 | A mutation on Chromosome 17 affecting ATP6V0A1 (ATPase H+ transporting V0 subunit a1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Neurodevelopmental disorder with epilepsy and brain atrophy | TTCCATCTAAAAAAATATTATTTATCAGTAATTTTAAAACAAAATTAACTGGGCATGGTGGCACATACTTGTAGTTCCAACTGTTTGGGAGGCTGAGGTGGGAGGATAACTTGAGTCCAGGGGTTGCAGGCTGCAGTGAGCTGTGATGAAACCACTGCACTCCAGCCTGGGTGGCAGAGAAAGACCCCATCTCTCTTTTAAAAAAAGTTATCAGTAGCTCAAATTTCATTAGCTACTTTGTGAAGATGTGTTGATTCTGCCATGAAAGATTTTCTCTGAGAGTCCTATCTGTCTGGCAGCTGGGGAGTAAGTCACCTTAT... | TTCCATCTAAAAAAATATTATTTATCAGTAATTTTAAAACAAAATTAACTGGGCATGGTGGCACATACTTGTAGTTCCAACTGTTTGGGAGGCTGAGGTGGGAGGATAACTTGAGTCCAGGGGTTGCAGGCTGCAGTGAGCTGTGATGAAACCACTGCACTCCAGCCTGGGTGGCAGAGAAAGACCCCATCTCTCTTTTAAAAAAAGTTATCAGTAGCTCAAATTTCATTAGCTACTTTGTGAAGATGTGTTGATTCTGCCATGAAAGATTTTCTCTGAGAGTCCTATCTGTCTGGCAGCTGGGGAGTAAGTCACCTTAT... |
Task1_train_24430 | The gene ATP6V0A1 (ATPase H+ transporting V0 subunit a1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neurodevelopmental disorder with epilepsy and brain atrophy | GGAAAATATATAAGATAAACAACCCAATTTCTTCAAAAGAAATTTTGTAATGAATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGGAGGCTAAGGCAGGAGAAC... | GGAAAATATATAAGATAAACAACCCAATTTCTTCAAAAGAAATTTTGTAATGAATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGGAGGCTAAGGCAGGAGAAC... |
Task1_train_24431 | A variant has been detected on Chromosome 17 in ATP6V0A1 (ATPase H+ transporting V0 subunit a1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Developmental and epileptic encephalopathy 104 | AATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGGAGGCTAAGGCAGGAGAACAGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGTAACTGCA... | AATGAAAAAGGAAAGATGGAAGGAGAACCTGTAGTTTAGAGACTCAAGAGATATATCTACAATCATAATGTATAAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATGACTTGCGGTCAGGAAATTCCAGACCAGCCAGGGCAACATAGTGAAACCCCATCTCTACCAGAAGTATAAAAATTGGCCGGGTGTGGTGGTGCACGCCTGTAGTCCTAAGGCAGGAGGCTAAGGCAGGAGAACAGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGTAACTGCA... |
Task1_train_24432 | This variant affects gene ATP6V0A1 (ATPase H+ transporting V0 subunit a1) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Developmental and epileptic encephalopathy 104 | CCTGGGAGCCATGGACTTCTTCCTCTCAATGCGGGCCCTGGGGCGGCAGCCAGCAGTGGTAGGAAAGAGCTCTTAACCACGGTGTTGGGATTTAGGGAACTCAGGGAACTAGGATTACCCTAGTTTTCAGGGTAAGTAAGGAAGCTTGAAGAGCCTGTTCCGGAAGAAAAGCCCAGAAATAGGCTAGGTGTCGACAGAGGTGAGGGAGAAGCAGACGTTCGCCCAGAGATGGCATGGTGGAGCCAGCCCCCTCCACGCTGGCTGCACCCCTGTGGCCTGGGCTGTTGTGGCTTTACCAGCCAAGCCACTTTCTCCCATCC... | CCTGGGAGCCATGGACTTCTTCCTCTCAATGCGGGCCCTGGGGCGGCAGCCAGCAGTGGTAGGAAAGAGCTCTTAACCACGGTGTTGGGATTTAGGGAACTCAGGGAACTAGGATTACCCTAGTTTTCAGGGTAAGTAAGGAAGCTTGAAGAGCCTGTTCCGGAAGAAAAGCCCAGAAATAGGCTAGGTGTCGACAGAGGTGAGGGAGAAGCAGACGTTCGCCCAGAGATGGCATGGTGGAGCCAGCCCCCTCCACGCTGGCTGCACCCCTGTGGCCTGGGCTGTTGTGGCTTTACCAGCCAAGCCACTTTCTCCCATCC... |
Task1_train_24433 | Assess the clinical impact of this variant on gene ATP6V0A1 (ATPase H+ transporting V0 subunit a1), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Neurodevelopmental disorder with epilepsy and brain atrophy | CCTGGGAGCCATGGACTTCTTCCTCTCAATGCGGGCCCTGGGGCGGCAGCCAGCAGTGGTAGGAAAGAGCTCTTAACCACGGTGTTGGGATTTAGGGAACTCAGGGAACTAGGATTACCCTAGTTTTCAGGGTAAGTAAGGAAGCTTGAAGAGCCTGTTCCGGAAGAAAAGCCCAGAAATAGGCTAGGTGTCGACAGAGGTGAGGGAGAAGCAGACGTTCGCCCAGAGATGGCATGGTGGAGCCAGCCCCCTCCACGCTGGCTGCACCCCTGTGGCCTGGGCTGTTGTGGCTTTACCAGCCAAGCCACTTTCTCCCATCC... | CCTGGGAGCCATGGACTTCTTCCTCTCAATGCGGGCCCTGGGGCGGCAGCCAGCAGTGGTAGGAAAGAGCTCTTAACCACGGTGTTGGGATTTAGGGAACTCAGGGAACTAGGATTACCCTAGTTTTCAGGGTAAGTAAGGAAGCTTGAAGAGCCTGTTCCGGAAGAAAAGCCCAGAAATAGGCTAGGTGTCGACAGAGGTGAGGGAGAAGCAGACGTTCGCCCAGAGATGGCATGGTGGAGCCAGCCCCCTCCACGCTGGCTGCACCCCTGTGGCCTGGGCTGTTGTGGCTTTACCAGCCAAGCCACTTTCTCCCATCC... |
Task1_train_24434 | With a mutation on Chromosome 17 in gene LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | AGTTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAG... | AGTTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAG... |
Task1_train_24435 | A mutation found in LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | AGTTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAG... | AGTTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAG... |
Task1_train_24436 | Assess the clinical impact of this variant on gene LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | TTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCG... | TTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCG... |
Task1_train_24437 | This mutation is located in gene LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | TTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCG... | TTCGAGACCAGCCTGGACAACATGGTGAAATCCCATCCCTACAAAGGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCG... |
Task1_train_24438 | Given this context: Chromosome 17, gene LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | TGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGT... | TGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGT... |
Task1_train_24439 | A variant was discovered on Chromosome 17, affecting LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | TGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGT... | TGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGT... |
Task1_train_24440 | A mutation on Chromosome 17 affecting LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | AGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGA... | AGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGA... |
Task1_train_24441 | The gene LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | AGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGA... | AGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGA... |
Task1_train_24442 | A variant has been detected on Chromosome 17 in LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | TGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACA... | TGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACA... |
Task1_train_24443 | Gene LOC130060903, NAGLU (ATAC-STARR-seq lymphoblastoid silent region 8533| N-acetyl-alpha-glucosaminidase) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | TGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACA... | TGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACA... |
Task1_train_24444 | The gene NAGLU, LOC130060903 (N-acetyl-alpha-glucosaminidase| ATAC-STARR-seq lymphoblastoid silent region 8533) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | ATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTA... | ATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTA... |
Task1_train_24445 | This alteration occurs within gene NAGLU (N-acetyl-alpha-glucosaminidase) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Mucopolysaccharidosistype IIIB | ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAG... | ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAG... |
Task1_train_24446 | This variant lies on Chromosome 17 and affects the gene NAGLU (N-acetyl-alpha-glucosaminidase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAG... | ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAG... |
Task1_train_24447 | This sequence variant lies in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAG... | ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAG... |
Task1_train_24448 | Here is a variant affecting NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAG... | ATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTACAGGCGCTCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAG... |
Task1_train_24449 | Consider this mutation in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | GACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTA... | GACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTA... |
Task1_train_24450 | Located on Chromosome 17, this mutation impacts NAGLU (N-acetyl-alpha-glucosaminidase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | GACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTA... | GACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTA... |
Task1_train_24451 | Here’s a variant in NAGLU (N-acetyl-alpha-glucosaminidase) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | CCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTT... | CCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTT... |
Task1_train_24452 | This mutation is located in gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTT... | CCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTT... |
Task1_train_24453 | A variant affecting Chromosome 17, within the gene NAGLU (N-acetyl-alpha-glucosaminidase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTT... | CCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACCCAAATCGGGAGGCTGAGCGGGGAGCGCTGGCCGGAAGGCCCAGCTGCGCCGCCTCCAGCAGCTGTGTGGCCTTGAGCCAGCCACTCTGCCTTTCAGAGCCTCGGCTGGCCCACCTGAAAAACGGAAAGAAGACGCCTACCGTGCAGTGTTATTGTGAGGATTTGCACGATGATGGGCATAGAATTTGTGGTGCACAATTGGTGATGAGTGAATTTTCTTGCCTTCCTCCCCCACCTTCTCTT... |
Task1_train_24454 | With a mutation on Chromosome 17 in gene NAGLU (N-acetyl-alpha-glucosaminidase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | AGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCT... | AGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCT... |
Task1_train_24455 | This variant lies on Chromosome 17 and affects the gene NAGLU (N-acetyl-alpha-glucosaminidase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | AGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCT... | AGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCT... |
Task1_train_24456 | Chromosome 17 houses a mutation in gene NAGLU (N-acetyl-alpha-glucosaminidase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | AGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCT... | AGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCT... |
Task1_train_24457 | A sequence alteration has been identified in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | GCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATC... | GCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATC... |
Task1_train_24458 | The gene NAGLU (N-acetyl-alpha-glucosaminidase) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | GCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATC... | GCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATC... |
Task1_train_24459 | This variant impacts the gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | GCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGT... | GCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGT... |
Task1_train_24460 | A genomic change on Chromosome 17 affects NAGLU (N-acetyl-alpha-glucosaminidase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | GCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGT... | GCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGT... |
Task1_train_24461 | This variant affects gene NAGLU (N-acetyl-alpha-glucosaminidase) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | GCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGT... | GCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGGCAGCAGGGGTGCTCCAGTGTCCCTTGTCCCTCCTGTTCCTCTGTGCTTCCCAGCCATCCTCTCACATGTGGT... |
Task1_train_24462 | Here is a genetic alteration in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | ACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTG... | ACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTG... |
Task1_train_24463 | Here is a genetic alteration in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | ACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTG... | ACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTG... |
Task1_train_24464 | This gene mutation involves NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | CCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGC... | CCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGC... |
Task1_train_24465 | Gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGC... | CCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGC... |
Task1_train_24466 | This variant affects the gene NAGLU (N-acetyl-alpha-glucosaminidase) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not specified | CCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGC... | CCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGC... |
Task1_train_24467 | The gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | ACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGG... | ACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGG... |
Task1_train_24468 | A sequence alteration has been identified in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | ACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGG... | ACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGG... |
Task1_train_24469 | This variant lies on Chromosome 17 and affects the gene NAGLU (N-acetyl-alpha-glucosaminidase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | GCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTG... | GCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTG... |
Task1_train_24470 | A variant has been detected on Chromosome 17 in NAGLU (N-acetyl-alpha-glucosaminidase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | GCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTG... | GCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTG... |
Task1_train_24471 | Here is a variant affecting NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | GCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCA... | GCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCA... |
Task1_train_24472 | Here is a genetic alteration in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | GCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCA... | GCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCA... |
Task1_train_24473 | This variant impacts the gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | GCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCA... | GCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCA... |
Task1_train_24474 | This variant impacts the gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Sanfilippo syndrome | CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCAT... | CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCAT... |
Task1_train_24475 | Assess the clinical impact of this variant on gene NAGLU (N-acetyl-alpha-glucosaminidase), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCAT... | CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCAT... |
Task1_train_24476 | Given this variant in gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCAT... | CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCAT... |
Task1_train_24477 | Mutation context: Chromosome 17, Gene NAGLU (N-acetyl-alpha-glucosaminidase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCAT... | CATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCAGGAAGGGAACAGATCAGCTCAGCCTTTCTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCAT... |
Task1_train_24478 | A sequence alteration has been identified in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTG... | CTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTG... |
Task1_train_24479 | Located on Chromosome 17, this mutation impacts NAGLU (N-acetyl-alpha-glucosaminidase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | CTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTG... | CTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTG... |
Task1_train_24480 | A genetic alteration is present in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTG... | CTTGAGCAGTACTGCTCCAAGTGTGACCCAAAACCAGCAGCAGCAGCAGCAGCAGCCCGAGCTGTGAGATGGCAAATTCTCAGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTG... |
Task1_train_24481 | A change on Chromosome 17 affects gene NAGLU (N-acetyl-alpha-glucosaminidase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Mucopolysaccharidosis, MPS-III-B | AGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACA... | AGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACA... |
Task1_train_24482 | This mutation is located in gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | AGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACA... | AGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACA... |
Task1_train_24483 | Here is a genetic alteration in NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | AGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACA... | AGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACA... |
Task1_train_24484 | This is a variant in NAGLU (N-acetyl-alpha-glucosaminidase), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACT... | CATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACT... |
Task1_train_24485 | A mutation in NAGLU (N-acetyl-alpha-glucosaminidase), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | CATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACT... | CATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACT... |
Task1_train_24486 | This variant affects gene NAGLU (N-acetyl-alpha-glucosaminidase) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | CACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAG... | CACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAG... |
Task1_train_24487 | The gene NAGLU (N-acetyl-alpha-glucosaminidase), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAG... | CACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAG... |
Task1_train_24488 | Gene NAGLU (N-acetyl-alpha-glucosaminidase) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2V | CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCC... | CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCC... |
Task1_train_24489 | This is a variant in NAGLU (N-acetyl-alpha-glucosaminidase), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Mucopolysaccharidosis, MPS-III-B | CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCC... | CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCC... |
Task1_train_24490 | A sequence alteration has been identified in COASY (Coenzyme A synthase) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Neurodegeneration with brain iron accumulation | AGCTGCAGGTAGCAGTGCCACAGACAGGAGGAGGAAACTCAAGCATGGCATGGGTCTTGGAATTTTCCATCTGCCTCTGATGCCCTCTGGCACTGCTCGTTCTCTGGAGTGGTTTCCTGGTGGCTTATTCTCTGGACACATGCCAGCCCTTGGAGTGACTATTGTGCTTGCCTGTTTCTTCACCTTCATGCTCCCCTCACCATCACCATAGGCCTTACCAGTTGAACCCTTTCTGCCACCCCCTCTGGGGATACTGTACTTAGGGACACTTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGT... | AGCTGCAGGTAGCAGTGCCACAGACAGGAGGAGGAAACTCAAGCATGGCATGGGTCTTGGAATTTTCCATCTGCCTCTGATGCCCTCTGGCACTGCTCGTTCTCTGGAGTGGTTTCCTGGTGGCTTATTCTCTGGACACATGCCAGCCCTTGGAGTGACTATTGTGCTTGCCTGTTTCTTCACCTTCATGCTCCCCTCACCATCACCATAGGCCTTACCAGTTGAACCCTTTCTGCCACCCCCTCTGGGGATACTGTACTTAGGGACACTTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGT... |
Task1_train_24491 | This variant affects the gene COASY (Coenzyme A synthase) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Neurodegeneration with brain iron accumulation 6 | AGCTGCAGGTAGCAGTGCCACAGACAGGAGGAGGAAACTCAAGCATGGCATGGGTCTTGGAATTTTCCATCTGCCTCTGATGCCCTCTGGCACTGCTCGTTCTCTGGAGTGGTTTCCTGGTGGCTTATTCTCTGGACACATGCCAGCCCTTGGAGTGACTATTGTGCTTGCCTGTTTCTTCACCTTCATGCTCCCCTCACCATCACCATAGGCCTTACCAGTTGAACCCTTTCTGCCACCCCCTCTGGGGATACTGTACTTAGGGACACTTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGT... | AGCTGCAGGTAGCAGTGCCACAGACAGGAGGAGGAAACTCAAGCATGGCATGGGTCTTGGAATTTTCCATCTGCCTCTGATGCCCTCTGGCACTGCTCGTTCTCTGGAGTGGTTTCCTGGTGGCTTATTCTCTGGACACATGCCAGCCCTTGGAGTGACTATTGTGCTTGCCTGTTTCTTCACCTTCATGCTCCCCTCACCATCACCATAGGCCTTACCAGTTGAACCCTTTCTGCCACCCCCTCTGGGGATACTGTACTTAGGGACACTTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGT... |
Task1_train_24492 | A variant affecting Chromosome 17, within the gene COASY (Coenzyme A synthase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Neurodegeneration with brain iron accumulation 6 | TTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGTTCTTCTGGGCTCCTTCCCCAGGCAAGTTGCTCCCTGAGCTGCTCCAACCTTATACAGAACGTGTGGAACATCTGAGTGAATTCCTGGTGGACATCAAGCCCTCCTTGACTTTTGATGTCATCCCCCTGCTGGACCCCTATGGGCCCGCTGGCTCTGACCCCTCCCTGGAGTTCCTGGTGGTCAGCGAGGAGACCTATCGTGGGGGGATGGCCATCAACCGCTTCCGCCTTGAGAATGTAACCCCTGAGGGAGACTGGCAGAGGGAGTGG... | TTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGTTCTTCTGGGCTCCTTCCCCAGGCAAGTTGCTCCCTGAGCTGCTCCAACCTTATACAGAACGTGTGGAACATCTGAGTGAATTCCTGGTGGACATCAAGCCCTCCTTGACTTTTGATGTCATCCCCCTGCTGGACCCCTATGGGCCCGCTGGCTCTGACCCCTCCCTGGAGTTCCTGGTGGTCAGCGAGGAGACCTATCGTGGGGGGATGGCCATCAACCGCTTCCGCCTTGAGAATGTAACCCCTGAGGGAGACTGGCAGAGGGAGTGG... |
Task1_train_24493 | This gene mutation involves TUBG1 (tubulin gamma 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Complex cortical dysplasia with other brain malformations 4 | TAATCTCCGTCATCATTTCCTAACTGTTCTTTAAAAGCTTGTAATTTTCTTTCAATTTTCAGCTTTGGGGGCTCACACTGACGCTTAGACTTCATAAACTTCCTTCCTAGATATATAACATGCTAATTCATGCGAATCGCTCAAGCTTGTTTTATAATCACACCTATGGATACCTTTGCAAGACTTCACGCCTCTACTCCAACAATAAACTACTAAAACCTCTGGAAACAATCTAGAACTTGCACTTGAGCAGACAAGAGAAAGGAAGTGATGGCTTTAAAGGGACGCAGCTTTGTCGGGCTCAAAAGAGGAGCCCTCGC... | TAATCTCCGTCATCATTTCCTAACTGTTCTTTAAAAGCTTGTAATTTTCTTTCAATTTTCAGCTTTGGGGGCTCACACTGACGCTTAGACTTCATAAACTTCCTTCCTAGATATATAACATGCTAATTCATGCGAATCGCTCAAGCTTGTTTTATAATCACACCTATGGATACCTTTGCAAGACTTCACGCCTCTACTCCAACAATAAACTACTAAAACCTCTGGAAACAATCTAGAACTTGCACTTGAGCAGACAAGAGAAAGGAAGTGATGGCTTTAAAGGGACGCAGCTTTGTCGGGCTCAAAAGAGGAGCCCTCGC... |
Task1_train_24494 | Given this context: Chromosome 17, gene TUBG1 (tubulin gamma 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Complex cortical dysplasia with other brain malformations 4 | ATGAGATGGGTCTAGTTTGACATCCTGCCACTAGATACCTGTACACTGACTGCCCCTTCCCCATGCAGGGCTTTGTGCTGTGTCACTCCATTGCTGGGGGGACAGGCTCTGGACTGGGTTCCTACCTCTTAGAACGGCTGAATGACAGGTAAGTTTGTGTTTGGGGATTAGGAAAGGTCTCCAACTTGGCTTCCTAAATGACTAGGGGACCCAGCAGATATAACTCCATATTTGCTGGAACAGGAAAGAGTTCTTATATTCCCTCCTATAGAGAGGAAAATGAAGTTACAATGACTGAGAACCCCATCACACTCCCAGTA... | ATGAGATGGGTCTAGTTTGACATCCTGCCACTAGATACCTGTACACTGACTGCCCCTTCCCCATGCAGGGCTTTGTGCTGTGTCACTCCATTGCTGGGGGGACAGGCTCTGGACTGGGTTCCTACCTCTTAGAACGGCTGAATGACAGGTAAGTTTGTGTTTGGGGATTAGGAAAGGTCTCCAACTTGGCTTCCTAAATGACTAGGGGACCCAGCAGATATAACTCCATATTTGCTGGAACAGGAAAGAGTTCTTATATTCCCTCCTATAGAGAGGAAAATGAAGTTACAATGACTGAGAACCCCATCACACTCCCAGTA... |
Task1_train_24495 | A variant on Chromosome 17 in gene TUBG1 (tubulin gamma 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Complex cortical dysplasia with other brain malformations 4 | TGGGTTCCTACCTCTTAGAACGGCTGAATGACAGGTAAGTTTGTGTTTGGGGATTAGGAAAGGTCTCCAACTTGGCTTCCTAAATGACTAGGGGACCCAGCAGATATAACTCCATATTTGCTGGAACAGGAAAGAGTTCTTATATTCCCTCCTATAGAGAGGAAAATGAAGTTACAATGACTGAGAACCCCATCACACTCCCAGTAGTGGGAACTGGAGCCTAGAACCTGAGCCCTGGATGAAAGTCGAGGGAGTGTGGCCAGGTCTCAATTTGGAAGCCCAGAGTCTAAGATGTCTCTGCCCTTCCCCCTGTAGGGCTA... | TGGGTTCCTACCTCTTAGAACGGCTGAATGACAGGTAAGTTTGTGTTTGGGGATTAGGAAAGGTCTCCAACTTGGCTTCCTAAATGACTAGGGGACCCAGCAGATATAACTCCATATTTGCTGGAACAGGAAAGAGTTCTTATATTCCCTCCTATAGAGAGGAAAATGAAGTTACAATGACTGAGAACCCCATCACACTCCCAGTAGTGGGAACTGGAGCCTAGAACCTGAGCCCTGGATGAAAGTCGAGGGAGTGTGGCCAGGTCTCAATTTGGAAGCCCAGAGTCTAAGATGTCTCTGCCCTTCCCCCTGTAGGGCTA... |
Task1_train_24496 | A genetic alteration is present in TUBG1 (tubulin gamma 1) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Complex cortical dysplasia with other brain malformations 4 | CTTCCAAAAGTCAAGGCTCCCTTCTCTACTGATTTGACCCCACCCCAGTTTCGCCATCAAGATTTATCTGCTTCTGGACAGTTGTTAGGGAGCGCCATGTTCACCAGGCCTTCGGTCTGTTGCCCTGATCCTTTCCCCAACCCCCACCAGGTATCCTAAGAAGCTGGTGCAGACATACTCAGTGTTTCCCAACCAGGACGAGATGAGCGATGTGGTGGTCCAGCCTTACAATTCACTCCTCACACTCAAGAGGCTGACGCAGAATGCAGACTGTGTGGTGAGTCCTGGATTCTACCTCTCCCAACTCTCAACACCCCATA... | CTTCCAAAAGTCAAGGCTCCCTTCTCTACTGATTTGACCCCACCCCAGTTTCGCCATCAAGATTTATCTGCTTCTGGACAGTTGTTAGGGAGCGCCATGTTCACCAGGCCTTCGGTCTGTTGCCCTGATCCTTTCCCCAACCCCCACCAGGTATCCTAAGAAGCTGGTGCAGACATACTCAGTGTTTCCCAACCAGGACGAGATGAGCGATGTGGTGGTCCAGCCTTACAATTCACTCCTCACACTCAAGAGGCTGACGCAGAATGCAGACTGTGTGGTGAGTCCTGGATTCTACCTCTCCCAACTCTCAACACCCCATA... |
Task1_train_24497 | This variant affects gene CNTNAP1 (contactin associated protein 1) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Neuropathy, congenital hypomyelinating, 3 | TTTGTGGCTGGGGCTGGGTTTTGTGGCAGGGATCCAAGCAGGAGCTGGTGCCCCTGACTGATGCTAAGGCTGGACATGGAGCTGGTGATGGTGCTAGCACTGGCTGAGGTTGGGTGCAAGGCCTGTATTTGGGGATGGTGCAGGTTTTGGGGGCCGAGTTGGATTGAGGCTAGGGTTGGAGCTGGATTGGTGTCTTGGGTTGACTTAGGTTGTGGAAGATGCTGAGGTTTAGGATTGAGTTTGGGAAAGTACTAAACCAGGGCAGGTATTGGGCTAGCTAGGGAGGGTCTGGCCTTGGGCCTATAGGTGTAGCCTAGGGG... | TTTGTGGCTGGGGCTGGGTTTTGTGGCAGGGATCCAAGCAGGAGCTGGTGCCCCTGACTGATGCTAAGGCTGGACATGGAGCTGGTGATGGTGCTAGCACTGGCTGAGGTTGGGTGCAAGGCCTGTATTTGGGGATGGTGCAGGTTTTGGGGGCCGAGTTGGATTGAGGCTAGGGTTGGAGCTGGATTGGTGTCTTGGGTTGACTTAGGTTGTGGAAGATGCTGAGGTTTAGGATTGAGTTTGGGAAAGTACTAAACCAGGGCAGGTATTGGGCTAGCTAGGGAGGGTCTGGCCTTGGGCCTATAGGTGTAGCCTAGGGG... |
Task1_train_24498 | Gene CNTNAP1 (contactin associated protein 1) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Neuropathy, congenital hypomyelinating, 3 | TCTCAAAAAATAAAATAAAAAAAAGAAGCAGAGGGCAGGACGTGGTTACTACTCTCCTCCACCCCCGCAGACCTTCTTTGGTAACGTGAACGAGTCGGCGGTGGTGCGCCATGACCTGCACTTCCACTTCACTGCGCGCTACATCCGCATCGTGCCCCTGGCCTGGAACCCACGCGGCAAGATCGGCCTGAGGCTCGGCCTCTATGGCTGCCCATACAGTAAGTGTGCAGAGAGCGCGGAGGGGGCCTGGGAGACAGCCTCCCCAGTTCCCGGCCCACCTACGGTCCTTTGCGCAGAGGCCGACATACTCTATTTCGACG... | TCTCAAAAAATAAAATAAAAAAAAGAAGCAGAGGGCAGGACGTGGTTACTACTCTCCTCCACCCCCGCAGACCTTCTTTGGTAACGTGAACGAGTCGGCGGTGGTGCGCCATGACCTGCACTTCCACTTCACTGCGCGCTACATCCGCATCGTGCCCCTGGCCTGGAACCCACGCGGCAAGATCGGCCTGAGGCTCGGCCTCTATGGCTGCCCATACAGTAAGTGTGCAGAGAGCGCGGAGGGGGCCTGGGAGACAGCCTCCCCAGTTCCCGGCCCACCTACGGTCCTTTGCGCAGAGGCCGACATACTCTATTTCGACG... |
Task1_train_24499 | Assess the clinical impact of this variant on gene CNTNAP1 (contactin associated protein 1), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | ATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCACCACCCCGGCCTCCCAAAGTGCTGGGATTACAGGCCCGAGCCGCCGCACCTGGCCAGCCCTCTAACTCTCTAACTGCCTTTGTCTCAACCTATTATCTGCCAGCTTTGTATAAGGAATCCTGTGAGGCTTATCGGCTCAGTGGGAAAACTTCTGGAAACTTCACCATTGATCCTGATGGCAGTGGCCCCCTGAAGCCATTTGTAGTGTACTGTGATATCCGAGGTAAGTGTCTCTGTTGGGTGGTGAGGGGGTGAGGGGAGAA... | ATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCACCACCCCGGCCTCCCAAAGTGCTGGGATTACAGGCCCGAGCCGCCGCACCTGGCCAGCCCTCTAACTCTCTAACTGCCTTTGTCTCAACCTATTATCTGCCAGCTTTGTATAAGGAATCCTGTGAGGCTTATCGGCTCAGTGGGAAAACTTCTGGAAACTTCACCATTGATCCTGATGGCAGTGGCCCCCTGAAGCCATTTGTAGTGTACTGTGATATCCGAGGTAAGTGTCTCTGTTGGGTGGTGAGGGGGTGAGGGGAGAA... |
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