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_3200 | Gene OTOF (otoferlin) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Auditory neuropathy, autosomal recessive, 1 | CCACTTCAAACCACTTGACGAGGGTGTTGAAGTTGGGGTTCTTCTTATAATTGTGGATCAGGGACGACTGCACCCCCTTCCCTGCACACTCGATGTCCACCCGTGGCCGGTCCACCTGGGCCAGGTTCACCCGCTTTAGGTCCCGTAGGCCCCAGAACAGCACCTGGGAGAGGTTGGAGGGTGGGTGCAGAGAAGAGAGCCCCTTAGTCAAGGGAGCCAGCCATGGGGGTGCTGGACCATCCAATAGGGAACCGGGCAGTGGGATGGGCAGTAGTTCACCCCAGATTTCAAAGGGTGGGAGCAGGGCCAGGAGAGCAGAG... | CCACTTCAAACCACTTGACGAGGGTGTTGAAGTTGGGGTTCTTCTTATAATTGTGGATCAGGGACGACTGCACCCCCTTCCCTGCACACTCGATGTCCACCCGTGGCCGGTCCACCTGGGCCAGGTTCACCCGCTTTAGGTCCCGTAGGCCCCAGAACAGCACCTGGGAGAGGTTGGAGGGTGGGTGCAGAGAAGAGAGCCCCTTAGTCAAGGGAGCCAGCCATGGGGGTGCTGGACCATCCAATAGGGAACCGGGCAGTGGGATGGGCAGTAGTTCACCCCAGATTTCAAAGGGTGGGAGCAGGGCCAGGAGAGCAGAG... |
Task1_train_3201 | Gene OTOF (otoferlin) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Bilateral sensorineural hearing impairment | GAAGGGCCACACAGAGCCCTCGCACCTCCACTCGGTACTTGCTGAGCACGGGCCGGATGCCCATGGGCACGGGCATGATGGGACCTCGGTCCACGTCCACCGGGCCATTGATGGGGGGCAGGTCAGCCTTCCCTGCTGGTCCAATCTGGGGAATGGGGGTCACAGGTCACACACTGGGGAGCCCAGGGACAGGGTCTCTTTCCCCATGAGTTGTTTGCCATGATCTGGGGAGACAGGGAAACCCCCTAAGGACCACGCCCCCAGCTTTGGTCAGGATGGGTAGGAGAGAGGCCCCTAGGCCCCAGCCCCCAGGCCCCAGC... | GAAGGGCCACACAGAGCCCTCGCACCTCCACTCGGTACTTGCTGAGCACGGGCCGGATGCCCATGGGCACGGGCATGATGGGACCTCGGTCCACGTCCACCGGGCCATTGATGGGGGGCAGGTCAGCCTTCCCTGCTGGTCCAATCTGGGGAATGGGGGTCACAGGTCACACACTGGGGAGCCCAGGGACAGGGTCTCTTTCCCCATGAGTTGTTTGCCATGATCTGGGGAGACAGGGAAACCCCCTAAGGACCACGCCCCCAGCTTTGGTCAGGATGGGTAGGAGAGAGGCCCCTAGGCCCCAGCCCCCAGGCCCCAGC... |
Task1_train_3202 | Given this variant in gene OTOF (otoferlin) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Nonsyndromic genetic hearing loss | AACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACACCTGTCTCCCTAGCCTTGCTTTTAAGATTTCTGGAAAAATCAGGGAACCCAACACTCCTGCCCCAGGATTCACTGGAGGCTGAGTGACTAGAGGTGGCTCCTGTCCTTGTCTGTGCCCTGGGACCTGGGGCTGAGAATGGGAACAGAGGTCCTGCTGGGGCCGTTCCTGCAGCCCCCTGGGCAGACCAGCTTTGTGTGTTCCAGGGAAGGCCCTCTGACAGCGCCGTCTCCCCCAGGACCCCACCCCT... | AACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACACCTGTCTCCCTAGCCTTGCTTTTAAGATTTCTGGAAAAATCAGGGAACCCAACACTCCTGCCCCAGGATTCACTGGAGGCTGAGTGACTAGAGGTGGCTCCTGTCCTTGTCTGTGCCCTGGGACCTGGGGCTGAGAATGGGAACAGAGGTCCTGCTGGGGCCGTTCCTGCAGCCCCCTGGGCAGACCAGCTTTGTGTGTTCCAGGGAAGGCCCTCTGACAGCGCCGTCTCCCCCAGGACCCCACCCCT... |
Task1_train_3203 | Mutation context: Chromosome 2, Gene OTOF (otoferlin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 9 | AACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACACCTGTCTCCCTAGCCTTGCTTTTAAGATTTCTGGAAAAATCAGGGAACCCAACACTCCTGCCCCAGGATTCACTGGAGGCTGAGTGACTAGAGGTGGCTCCTGTCCTTGTCTGTGCCCTGGGACCTGGGGCTGAGAATGGGAACAGAGGTCCTGCTGGGGCCGTTCCTGCAGCCCCCTGGGCAGACCAGCTTTGTGTGTTCCAGGGAAGGCCCTCTGACAGCGCCGTCTCCCCCAGGACCCCACCCCT... | AACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACACCTGTCTCCCTAGCCTTGCTTTTAAGATTTCTGGAAAAATCAGGGAACCCAACACTCCTGCCCCAGGATTCACTGGAGGCTGAGTGACTAGAGGTGGCTCCTGTCCTTGTCTGTGCCCTGGGACCTGGGGCTGAGAATGGGAACAGAGGTCCTGCTGGGGCCGTTCCTGCAGCCCCCTGGGCAGACCAGCTTTGTGTGTTCCAGGGAAGGCCCTCTGACAGCGCCGTCTCCCCCAGGACCCCACCCCT... |
Task1_train_3204 | Gene OTOF (otoferlin) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hearing loss, autosomal recessive | GGAAGAGGTCTGTAAAGACGACCTGCTCATTCCACAGGGGCTCATAGCTGCTCTTCTGCACTGAAGTCTTGCCCTGGTGGAAGGGGGAGCACAGGTGAGGGCGTGGCATGTGTGTGTGAGTGGGTGCATGTGTGTGTGTGTGAGTGGGCGCATGTGTGCGTGAGTGGGCACATGTGTGCATGTGTGAGTGGGTGTGCATGCGTGTGTGAGTGGATGCATGTGTGCGTGTGTGAGTGGGTGCATGTGTGAGTGGGTGCGCGTGCGTGTGTGAGTGGATGCATGTGTGTGTATGAGTGGGTGCATGTGTGCGTGAGTGGGTG... | GGAAGAGGTCTGTAAAGACGACCTGCTCATTCCACAGGGGCTCATAGCTGCTCTTCTGCACTGAAGTCTTGCCCTGGTGGAAGGGGGAGCACAGGTGAGGGCGTGGCATGTGTGTGTGAGTGGGTGCATGTGTGTGTGTGTGAGTGGGCGCATGTGTGCGTGAGTGGGCACATGTGTGCATGTGTGAGTGGGTGTGCATGCGTGTGTGAGTGGATGCATGTGTGCGTGTGTGAGTGGGTGCATGTGTGAGTGGGTGCGCGTGCGTGTGTGAGTGGATGCATGTGTGTGTATGAGTGGGTGCATGTGTGCGTGAGTGGGTG... |
Task1_train_3205 | Consider this mutation in KCNK3 (potassium two pore domain channel subfamily K member 3) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Pulmonary hypertension, primary, 4 | TCATATCATCTGATTTGCACACATGTGTTCTTCTTTGATCTCTCAAAACAAATGGTTCAAGACGCGGGTAGAGCTAATATTATTATCTATTCCACTTTACAAATTGAAAAAAAAAAAAGAGAGACTCAAGGAGTCATGGCAAAGAGCATGGGCTTAAGAGGCAGACAGACTGAAGCCTCTTCCCAGCTGAGTGAAATTTACTGATTCTCTACATTGCCTTTAGCCTCAGTTTCCCCATCTATAAAATAGGCATGACCACACCTACCTTTCAGGATTGTGGTGAGGACCAGAGATGATGAATCCCTGACACACAACAGATG... | TCATATCATCTGATTTGCACACATGTGTTCTTCTTTGATCTCTCAAAACAAATGGTTCAAGACGCGGGTAGAGCTAATATTATTATCTATTCCACTTTACAAATTGAAAAAAAAAAAAGAGAGACTCAAGGAGTCATGGCAAAGAGCATGGGCTTAAGAGGCAGACAGACTGAAGCCTCTTCCCAGCTGAGTGAAATTTACTGATTCTCTACATTGCCTTTAGCCTCAGTTTCCCCATCTATAAAATAGGCATGACCACACCTACCTTTCAGGATTGTGGTGAGGACCAGAGATGATGAATCCCTGACACACAACAGATG... |
Task1_train_3206 | A variant affecting Chromosome 2, within the gene KCNK3 (potassium two pore domain channel subfamily K member 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; KCNK3-related disorder | GGGCACAATCTGTTCTCACCCTACTGGAGCACAGACGTCCTAAGCACAGTGGCTCTACAGCTCAGCTGTCCAGGTCCCTAGCAAATGGTGACACAGTTACTGGCCCGACGCTGTGGAGGGGGTCAGGGGAGCTGGTTCTAAGGGCAGCCCCAAGCAGCTGTCCCCAGAGCTCCTTGAGCTTTAAGATCCAAATGGCCCTGGGTTGACAGAGGTGCCAGCTTTACTGGAACTGAGCTGCCCTCAAGCCTGGCTGCTCTCTTGGAAACATGACAGTAATCTGGCACTTCACTCATTATTAATCACAGTGAGCCATTATTGAG... | GGGCACAATCTGTTCTCACCCTACTGGAGCACAGACGTCCTAAGCACAGTGGCTCTACAGCTCAGCTGTCCAGGTCCCTAGCAAATGGTGACACAGTTACTGGCCCGACGCTGTGGAGGGGGTCAGGGGAGCTGGTTCTAAGGGCAGCCCCAAGCAGCTGTCCCCAGAGCTCCTTGAGCTTTAAGATCCAAATGGCCCTGGGTTGACAGAGGTGCCAGCTTTACTGGAACTGAGCTGCCCTCAAGCCTGGCTGCTCTCTTGGAAACATGACAGTAATCTGGCACTTCACTCATTATTAATCACAGTGAGCCATTATTGAG... |
Task1_train_3207 | Here is a genetic alteration in KCNK3 (potassium two pore domain channel subfamily K member 3) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Pulmonary hypertension, primary, 4 | GGGCACAATCTGTTCTCACCCTACTGGAGCACAGACGTCCTAAGCACAGTGGCTCTACAGCTCAGCTGTCCAGGTCCCTAGCAAATGGTGACACAGTTACTGGCCCGACGCTGTGGAGGGGGTCAGGGGAGCTGGTTCTAAGGGCAGCCCCAAGCAGCTGTCCCCAGAGCTCCTTGAGCTTTAAGATCCAAATGGCCCTGGGTTGACAGAGGTGCCAGCTTTACTGGAACTGAGCTGCCCTCAAGCCTGGCTGCTCTCTTGGAAACATGACAGTAATCTGGCACTTCACTCATTATTAATCACAGTGAGCCATTATTGAG... | GGGCACAATCTGTTCTCACCCTACTGGAGCACAGACGTCCTAAGCACAGTGGCTCTACAGCTCAGCTGTCCAGGTCCCTAGCAAATGGTGACACAGTTACTGGCCCGACGCTGTGGAGGGGGTCAGGGGAGCTGGTTCTAAGGGCAGCCCCAAGCAGCTGTCCCCAGAGCTCCTTGAGCTTTAAGATCCAAATGGCCCTGGGTTGACAGAGGTGCCAGCTTTACTGGAACTGAGCTGCCCTCAAGCCTGGCTGCTCTCTTGGAAACATGACAGTAATCTGGCACTTCACTCATTATTAATCACAGTGAGCCATTATTGAG... |
Task1_train_3208 | A change on Chromosome 2 affects gene KCNK3 (potassium two pore domain channel subfamily K member 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | GCTGTGGAGGGGGTCAGGGGAGCTGGTTCTAAGGGCAGCCCCAAGCAGCTGTCCCCAGAGCTCCTTGAGCTTTAAGATCCAAATGGCCCTGGGTTGACAGAGGTGCCAGCTTTACTGGAACTGAGCTGCCCTCAAGCCTGGCTGCTCTCTTGGAAACATGACAGTAATCTGGCACTTCACTCATTATTAATCACAGTGAGCCATTATTGAGCACTTGATAGGTACCAGGCTCTGGGCTAAGTGCATTACACACATGATCTTACTTATTCCTCCCCAAAGTCCTGTGAGGCAAGTGTATTATTAACCCCATTTTATAGATG... | GCTGTGGAGGGGGTCAGGGGAGCTGGTTCTAAGGGCAGCCCCAAGCAGCTGTCCCCAGAGCTCCTTGAGCTTTAAGATCCAAATGGCCCTGGGTTGACAGAGGTGCCAGCTTTACTGGAACTGAGCTGCCCTCAAGCCTGGCTGCTCTCTTGGAAACATGACAGTAATCTGGCACTTCACTCATTATTAATCACAGTGAGCCATTATTGAGCACTTGATAGGTACCAGGCTCTGGGCTAAGTGCATTACACACATGATCTTACTTATTCCTCCCCAAAGTCCTGTGAGGCAAGTGTATTATTAACCCCATTTTATAGATG... |
Task1_train_3209 | A mutation in KCNK3 (potassium two pore domain channel subfamily K member 3), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Pulmonary hypertension, primary, 4 | CACTCATTATTAATCACAGTGAGCCATTATTGAGCACTTGATAGGTACCAGGCTCTGGGCTAAGTGCATTACACACATGATCTTACTTATTCCTCCCCAAAGTCCTGTGAGGCAAGTGTATTATTAACCCCATTTTATAGATGTGGAAACTAAGGCTCAGAGAAATCATGCATACACACACACACACACACACACACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGTAAGTCCAGGACAGAGTCACACAGTATCCTGCCTTGCAATTTAGTTATCAAACATATTCTGGGCCTCCATAGGTATGGCTGGC... | CACTCATTATTAATCACAGTGAGCCATTATTGAGCACTTGATAGGTACCAGGCTCTGGGCTAAGTGCATTACACACATGATCTTACTTATTCCTCCCCAAAGTCCTGTGAGGCAAGTGTATTATTAACCCCATTTTATAGATGTGGAAACTAAGGCTCAGAGAAATCATGCATACACACACACACACACACACACACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGTAAGTCCAGGACAGAGTCACACAGTATCCTGCCTTGCAATTTAGTTATCAAACATATTCTGGGCCTCCATAGGTATGGCTGGC... |
Task1_train_3210 | Here’s a variant in KCNK3 (potassium two pore domain channel subfamily K member 3) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Pulmonary hypertension, primary, 4 | AGCACTTGATAGGTACCAGGCTCTGGGCTAAGTGCATTACACACATGATCTTACTTATTCCTCCCCAAAGTCCTGTGAGGCAAGTGTATTATTAACCCCATTTTATAGATGTGGAAACTAAGGCTCAGAGAAATCATGCATACACACACACACACACACACACACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGTAAGTCCAGGACAGAGTCACACAGTATCCTGCCTTGCAATTTAGTTATCAAACATATTCTGGGCCTCCATAGGTATGGCTGGCAATGTGGAGGTAGAAGCTAGAGAGGAAAGTGA... | AGCACTTGATAGGTACCAGGCTCTGGGCTAAGTGCATTACACACATGATCTTACTTATTCCTCCCCAAAGTCCTGTGAGGCAAGTGTATTATTAACCCCATTTTATAGATGTGGAAACTAAGGCTCAGAGAAATCATGCATACACACACACACACACACACACACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGTAAGTCCAGGACAGAGTCACACAGTATCCTGCCTTGCAATTTAGTTATCAAACATATTCTGGGCCTCCATAGGTATGGCTGGCAATGTGGAGGTAGAAGCTAGAGAGGAAAGTGA... |
Task1_train_3211 | A variant found in Chromosome 2 affects KCNK3 (potassium two pore domain channel subfamily K member 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Pulmonary hypertension, primary, 1 | GCACTTGATAGGTACCAGGCTCTGGGCTAAGTGCATTACACACATGATCTTACTTATTCCTCCCCAAAGTCCTGTGAGGCAAGTGTATTATTAACCCCATTTTATAGATGTGGAAACTAAGGCTCAGAGAAATCATGCATACACACACACACACACACACACACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGTAAGTCCAGGACAGAGTCACACAGTATCCTGCCTTGCAATTTAGTTATCAAACATATTCTGGGCCTCCATAGGTATGGCTGGCAATGTGGAGGTAGAAGCTAGAGAGGAAAGTGAC... | GCACTTGATAGGTACCAGGCTCTGGGCTAAGTGCATTACACACATGATCTTACTTATTCCTCCCCAAAGTCCTGTGAGGCAAGTGTATTATTAACCCCATTTTATAGATGTGGAAACTAAGGCTCAGAGAAATCATGCATACACACACACACACACACACACACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGTAAGTCCAGGACAGAGTCACACAGTATCCTGCCTTGCAATTTAGTTATCAAACATATTCTGGGCCTCCATAGGTATGGCTGGCAATGTGGAGGTAGAAGCTAGAGAGGAAAGTGAC... |
Task1_train_3212 | Gene KCNK3 (potassium two pore domain channel subfamily K member 3) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Pulmonary hypertension, primary, 4 | GCACTTGATAGGTACCAGGCTCTGGGCTAAGTGCATTACACACATGATCTTACTTATTCCTCCCCAAAGTCCTGTGAGGCAAGTGTATTATTAACCCCATTTTATAGATGTGGAAACTAAGGCTCAGAGAAATCATGCATACACACACACACACACACACACACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGTAAGTCCAGGACAGAGTCACACAGTATCCTGCCTTGCAATTTAGTTATCAAACATATTCTGGGCCTCCATAGGTATGGCTGGCAATGTGGAGGTAGAAGCTAGAGAGGAAAGTGAC... | GCACTTGATAGGTACCAGGCTCTGGGCTAAGTGCATTACACACATGATCTTACTTATTCCTCCCCAAAGTCCTGTGAGGCAAGTGTATTATTAACCCCATTTTATAGATGTGGAAACTAAGGCTCAGAGAAATCATGCATACACACACACACACACACACACACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGTAAGTCCAGGACAGAGTCACACAGTATCCTGCCTTGCAATTTAGTTATCAAACATATTCTGGGCCTCCATAGGTATGGCTGGCAATGTGGAGGTAGAAGCTAGAGAGGAAAGTGAC... |
Task1_train_3213 | A change on Chromosome 2 affects gene KCNK3 (potassium two pore domain channel subfamily K member 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Pulmonary hypertension, primary, 4 | TTATTCCTCCCCAAAGTCCTGTGAGGCAAGTGTATTATTAACCCCATTTTATAGATGTGGAAACTAAGGCTCAGAGAAATCATGCATACACACACACACACACACACACACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGTAAGTCCAGGACAGAGTCACACAGTATCCTGCCTTGCAATTTAGTTATCAAACATATTCTGGGCCTCCATAGGTATGGCTGGCAATGTGGAGGTAGAAGCTAGAGAGGAAAGTGACAAGACCCATCAGTGCCACCCCTTCCCCCCAAAGCTAGTGTTTAGCTCTATGTA... | TTATTCCTCCCCAAAGTCCTGTGAGGCAAGTGTATTATTAACCCCATTTTATAGATGTGGAAACTAAGGCTCAGAGAAATCATGCATACACACACACACACACACACACACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGTAAGTCCAGGACAGAGTCACACAGTATCCTGCCTTGCAATTTAGTTATCAAACATATTCTGGGCCTCCATAGGTATGGCTGGCAATGTGGAGGTAGAAGCTAGAGAGGAAAGTGACAAGACCCATCAGTGCCACCCCTTCCCCCCAAAGCTAGTGTTTAGCTCTATGTA... |
Task1_train_3214 | Consider a variant on Chromosome 2 in gene EMILIN1 (elastin microfibril interfacer 1). Determine its clinical classification and disease relevance. | Pathogenic; Neuronopathy, distal hereditary motor, autosomal dominant 10 | GTGAGTCCCAGGGCCGGGCAACGGGCCCTTGGTGGGAACTGGGCGAGGGCAGATGGTGGGTGGCTGACTCAGGGAGTCTGTATGAAGCAGGGAGCAAGGGCAGGACAGGGGCTAGGGTCACAGCCATTTTGAGGAGATACTGAGACAACAGTTTGGCTGGTGGGAGACTGAGGGCAAACCTGCCTCACGCGCCAGCCCCAGATGCCTTCTCTGGGATGGCTCAGGCTCAAGCAGAGGAGTTCAAGGTTCCAGCACAGGGCAAGGGAAGGAAGAGCAGGGATTTAACCCTTGGCCAAAAAGCTGACAGCTGTCAGCTAAGC... | GTGAGTCCCAGGGCCGGGCAACGGGCCCTTGGTGGGAACTGGGCGAGGGCAGATGGTGGGTGGCTGACTCAGGGAGTCTGTATGAAGCAGGGAGCAAGGGCAGGACAGGGGCTAGGGTCACAGCCATTTTGAGGAGATACTGAGACAACAGTTTGGCTGGTGGGAGACTGAGGGCAAACCTGCCTCACGCGCCAGCCCCAGATGCCTTCTCTGGGATGGCTCAGGCTCAAGCAGAGGAGTTCAAGGTTCCAGCACAGGGCAAGGGAAGGAAGAGCAGGGATTTAACCCTTGGCCAAAAAGCTGACAGCTGTCAGCTAAGC... |
Task1_train_3215 | This sequence change occurs on Chromosome 2, altering KHK (ketohexokinase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Essential fructosuria | ATTGGGTTCCCACATCAGCTTTGTCCTTAACTATTGATCAAGTCAGATCCCTCGAGATTCCTCCTTTTTTTTCATATCTTTTCGTAAAAATTTCTGTAAAGCTGTAAAGCTCAGCTTGAAAATCTTTTTTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGGAGACAAAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAAAGATTCTCCTGCCTCAGCCTCCCGAGTAGCAGGGATTACAGGCACCTGCCACCACACCCGGCTCATTTTTGT... | ATTGGGTTCCCACATCAGCTTTGTCCTTAACTATTGATCAAGTCAGATCCCTCGAGATTCCTCCTTTTTTTTCATATCTTTTCGTAAAAATTTCTGTAAAGCTGTAAAGCTCAGCTTGAAAATCTTTTTTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGGAGACAAAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAAAGATTCTCCTGCCTCAGCCTCCCGAGTAGCAGGGATTACAGGCACCTGCCACCACACCCGGCTCATTTTTGT... |
Task1_train_3216 | This genomic variant is located on Chromosome 2, within the KHK (ketohexokinase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Essential fructosuria | CCACATCAGCTTTGTCCTTAACTATTGATCAAGTCAGATCCCTCGAGATTCCTCCTTTTTTTTCATATCTTTTCGTAAAAATTTCTGTAAAGCTGTAAAGCTCAGCTTGAAAATCTTTTTTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGGAGACAAAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAAAGATTCTCCTGCCTCAGCCTCCCGAGTAGCAGGGATTACAGGCACCTGCCACCACACCCGGCTCATTTTTGTATTTTTAGT... | CCACATCAGCTTTGTCCTTAACTATTGATCAAGTCAGATCCCTCGAGATTCCTCCTTTTTTTTCATATCTTTTCGTAAAAATTTCTGTAAAGCTGTAAAGCTCAGCTTGAAAATCTTTTTTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGGAGACAAAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAAAGATTCTCCTGCCTCAGCCTCCCGAGTAGCAGGGATTACAGGCACCTGCCACCACACCCGGCTCATTTTTGTATTTTTAGT... |
Task1_train_3217 | A variant on Chromosome 2 in gene SLC5A6 (solute carrier family 5 member 6) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Neurodegeneration, infantile-onset, biotin-responsive | GACCCCAGCCCCCACCCACCTCCTACATCCCAGCAGAAAAGCCTGACAGCTACGGACACCCAAGAGCTCAGAGGGCAGGAGCCTTTCTCCCTAGAGTCCCTTAGGGCCCTCTGTTAACCCCTCGGTGCTCATCTGCACCGCAATCCCACACCCTTACCAGTGAGTAGACTGACAATCAGGCCCACCACAATCACTGTGGTGGAGTTGTGAGCACTGTACCATAAGTAAGACAAGGAATAGAACCGCTGCAGCCCTGTGGGCCTGGGAAGAGCAGAGGTGAGAACAATTAGCAATTCGTTGGCAGGGCATTCCTTGGGCAC... | GACCCCAGCCCCCACCCACCTCCTACATCCCAGCAGAAAAGCCTGACAGCTACGGACACCCAAGAGCTCAGAGGGCAGGAGCCTTTCTCCCTAGAGTCCCTTAGGGCCCTCTGTTAACCCCTCGGTGCTCATCTGCACCGCAATCCCACACCCTTACCAGTGAGTAGACTGACAATCAGGCCCACCACAATCACTGTGGTGGAGTTGTGAGCACTGTACCATAAGTAAGACAAGGAATAGAACCGCTGCAGCCCTGTGGGCCTGGGAAGAGCAGAGGTGAGAACAATTAGCAATTCGTTGGCAGGGCATTCCTTGGGCAC... |
Task1_train_3218 | Given a variant located on Chromosome 2 and affecting SLC5A6 (solute carrier family 5 member 6), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Neurodegeneration, infantile-onset, biotin-responsive | GTTACACCTCAGGCTTCCCAGTTTACCTTCTGCTTACTATAGCCAAGACCAGCCTCTAGGATGGGCTCAGCGCCCAGGCACTGCAGACCCCAGCCAGGAGTAGGGGTATACTTACTCAAACCCAGAGATGCGGCCGTGCTGGGAAGCCACGGCCCACACACGCCCCAAGCCGCCCACCTTGGCTGACCCCACAATGATAACTGCCAGCTGCCCGAGGAACATGACCAGTGTCTGGAACACATCTGTCCAGATGACGGCCTTCAGCCCACCCTGCAAGGAAAGCACAGCAAACCTGCCACAGAGGCCTTCTAAACCCAGCT... | GTTACACCTCAGGCTTCCCAGTTTACCTTCTGCTTACTATAGCCAAGACCAGCCTCTAGGATGGGCTCAGCGCCCAGGCACTGCAGACCCCAGCCAGGAGTAGGGGTATACTTACTCAAACCCAGAGATGCGGCCGTGCTGGGAAGCCACGGCCCACACACGCCCCAAGCCGCCCACCTTGGCTGACCCCACAATGATAACTGCCAGCTGCCCGAGGAACATGACCAGTGTCTGGAACACATCTGTCCAGATGACGGCCTTCAGCCCACCCTGCAAGGAAAGCACAGCAAACCTGCCACAGAGGCCTTCTAAACCCAGCT... |
Task1_train_3219 | The variant affects gene CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Developmental and epileptic encephalopathy, 50 | AAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCATTAAGATTTCTTAGTTGTGAAACACCATGAATCCCACCATCATGTGACTTGCCTTGAGAATCTCCCAGAGTCTTGACTATAAACCATAAGCATTATGGGCAGTGCCTTCTTCCCACCCCTTCCACCTCCACACCTTCATTCCTTCCATTCTGTTCTTCCAGGTGAAGTCATGGGCATTGGGCGTTCATTTGAGGAGGCCTTCCAGAAGGCCCTGCGCATGGTGGATGAGAACTGTGTGGGCTTTGATCACACAGTGAAACCAGTCAGCGATATGGTAAGT... | AAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCATTAAGATTTCTTAGTTGTGAAACACCATGAATCCCACCATCATGTGACTTGCCTTGAGAATCTCCCAGAGTCTTGACTATAAACCATAAGCATTATGGGCAGTGCCTTCTTCCCACCCCTTCCACCTCCACACCTTCATTCCTTCCATTCTGTTCTTCCAGGTGAAGTCATGGGCATTGGGCGTTCATTTGAGGAGGCCTTCCAGAAGGCCCTGCGCATGGTGGATGAGAACTGTGTGGGCTTTGATCACACAGTGAAACCAGTCAGCGATATGGTAAGT... |
Task1_train_3220 | Mutation context: Chromosome 2, Gene MPV17 (mitochondrial inner membrane protein MPV17). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | GTGCCGCCGGCCCTGGACACACAGGGGCAGCGCAGGGTGAGGTGCGCCTGGGACAGCTGCAGGCCGCCGCTCCCCTCCCCGCGCTCGCCCGGCGACCCCTCCGGCCGCCGCCCAATGCCCGCAGCCTGCCCTCCAGCCCCAGCCACTGCGCCAGTGCTGTTCCATCCCTTCCACCCAGCCTCCCTCCCCGGAGGAGCGTGGTGGCTGAGCTGAGCGGAGTCCTGGTGCAGGGGGAGGCTGGGCGGACGCTCTGAGCCACTCACAGGTTGTCGGCGAGCGTCTGTACGGTCCAAGATTGAGCTCCAGTCTCTGTCCCTCGG... | GTGCCGCCGGCCCTGGACACACAGGGGCAGCGCAGGGTGAGGTGCGCCTGGGACAGCTGCAGGCCGCCGCTCCCCTCCCCGCGCTCGCCCGGCGACCCCTCCGGCCGCCGCCCAATGCCCGCAGCCTGCCCTCCAGCCCCAGCCACTGCGCCAGTGCTGTTCCATCCCTTCCACCCAGCCTCCCTCCCCGGAGGAGCGTGGTGGCTGAGCTGAGCGGAGTCCTGGTGCAGGGGGAGGCTGGGCGGACGCTCTGAGCCACTCACAGGTTGTCGGCGAGCGTCTGTACGGTCCAAGATTGAGCTCCAGTCTCTGTCCCTCGG... |
Task1_train_3221 | The variant affects gene MPV17 (mitochondrial inner membrane protein MPV17), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Mitochondrial DNA depletion syndrome | GCATAGCTCTGTTAATCACAGAAAGGGCCCCTATCTGGGCCCCTTCTAAGTTCATTGATCTGTCTTGTACCAGCTGAGATTTCATCTTCCGAAATGTACGGACTATCATATAAAGTAGCATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGC... | GCATAGCTCTGTTAATCACAGAAAGGGCCCCTATCTGGGCCCCTTCTAAGTTCATTGATCTGTCTTGTACCAGCTGAGATTTCATCTTCCGAAATGTACGGACTATCATATAAAGTAGCATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGC... |
Task1_train_3222 | A variant was discovered in gene MPV17 (mitochondrial inner membrane protein MPV17), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | GCATAGCTCTGTTAATCACAGAAAGGGCCCCTATCTGGGCCCCTTCTAAGTTCATTGATCTGTCTTGTACCAGCTGAGATTTCATCTTCCGAAATGTACGGACTATCATATAAAGTAGCATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGC... | GCATAGCTCTGTTAATCACAGAAAGGGCCCCTATCTGGGCCCCTTCTAAGTTCATTGATCTGTCTTGTACCAGCTGAGATTTCATCTTCCGAAATGTACGGACTATCATATAAAGTAGCATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGC... |
Task1_train_3223 | Here is a genetic alteration in MPV17 (mitochondrial inner membrane protein MPV17) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; MPV17-related disorder | GCATAGCTCTGTTAATCACAGAAAGGGCCCCTATCTGGGCCCCTTCTAAGTTCATTGATCTGTCTTGTACCAGCTGAGATTTCATCTTCCGAAATGTACGGACTATCATATAAAGTAGCATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGC... | GCATAGCTCTGTTAATCACAGAAAGGGCCCCTATCTGGGCCCCTTCTAAGTTCATTGATCTGTCTTGTACCAGCTGAGATTTCATCTTCCGAAATGTACGGACTATCATATAAAGTAGCATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGC... |
Task1_train_3224 | Consider this mutation in MPV17 (mitochondrial inner membrane protein MPV17) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Charcot-Marie-Tooth disease, axonal, type 2EE | GCATAGCTCTGTTAATCACAGAAAGGGCCCCTATCTGGGCCCCTTCTAAGTTCATTGATCTGTCTTGTACCAGCTGAGATTTCATCTTCCGAAATGTACGGACTATCATATAAAGTAGCATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGC... | GCATAGCTCTGTTAATCACAGAAAGGGCCCCTATCTGGGCCCCTTCTAAGTTCATTGATCTGTCTTGTACCAGCTGAGATTTCATCTTCCGAAATGTACGGACTATCATATAAAGTAGCATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGC... |
Task1_train_3225 | A mutation on Chromosome 2 affecting MPV17 (mitochondrial inner membrane protein MPV17) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | GCATAGCTCTGTTAATCACAGAAAGGGCCCCTATCTGGGCCCCTTCTAAGTTCATTGATCTGTCTTGTACCAGCTGAGATTTCATCTTCCGAAATGTACGGACTATCATATAAAGTAGCATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGC... | GCATAGCTCTGTTAATCACAGAAAGGGCCCCTATCTGGGCCCCTTCTAAGTTCATTGATCTGTCTTGTACCAGCTGAGATTTCATCTTCCGAAATGTACGGACTATCATATAAAGTAGCATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGC... |
Task1_train_3226 | A mutation on Chromosome 2 affecting MPV17 (mitochondrial inner membrane protein MPV17) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Charcot-Marie-Tooth disease, axonal, type 2EE | GCATAGCTCTGTTAATCACAGAAAGGGCCCCTATCTGGGCCCCTTCTAAGTTCATTGATCTGTCTTGTACCAGCTGAGATTTCATCTTCCGAAATGTACGGACTATCATATAAAGTAGCATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGC... | GCATAGCTCTGTTAATCACAGAAAGGGCCCCTATCTGGGCCCCTTCTAAGTTCATTGATCTGTCTTGTACCAGCTGAGATTTCATCTTCCGAAATGTACGGACTATCATATAAAGTAGCATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGC... |
Task1_train_3227 | Consider a variant on Chromosome 2 in gene MPV17 (mitochondrial inner membrane protein MPV17). Determine its clinical classification and disease relevance. | Pathogenic; Mitochondrial disease | TCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTGGTGTGAAACTCCTGGACTCAAGCAAAC... | TCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTGGTGTGAAACTCCTGGACTCAAGCAAAC... |
Task1_train_3228 | This variant lies on Chromosome 2 and affects the gene MPV17 (mitochondrial inner membrane protein MPV17). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth disease, axonal, type 2EE | TCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTGGTGTGAAACTCCTGGACTCAAGCAAAC... | TCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTGGTGTGAAACTCCTGGACTCAAGCAAAC... |
Task1_train_3229 | This mutation is located in gene MPV17 (mitochondrial inner membrane protein MPV17) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Mitochondrial DNA depletion syndrome | TCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTGGTGTGAAACTCCTGGACTCAAGCAAAC... | TCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTGGTGTGAAACTCCTGGACTCAAGCAAAC... |
Task1_train_3230 | Here is a variant affecting MPV17 (mitochondrial inner membrane protein MPV17) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Charcot-Marie-Tooth disease, axonal, type 2EE | CCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTGGTGTGAAACTCCTGGACTCAAGCAAACC... | CCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTGGTGTGAAACTCCTGGACTCAAGCAAACC... |
Task1_train_3231 | Assess the clinical impact of this variant on gene MPV17 (mitochondrial inner membrane protein MPV17), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease, axonal, type 2EE | CCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTGGTGTGAAACTCCTGGACTCAAGCAAACC... | CCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTGGTGTGAAACTCCTGGACTCAAGCAAACC... |
Task1_train_3232 | A variant found in Chromosome 2 affects MPV17 (mitochondrial inner membrane protein MPV17). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | CCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTGGTGTGAAACTCCTGGACTCAAGCAAACC... | CCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTGGTGTGAAACTCCTGGACTCAAGCAAACC... |
Task1_train_3233 | Given this context: Chromosome 2, gene EIF2B4, GTF3C2-AS2 (eukaryotic translation initiation factor 2B subunit delta| GTF3C2 antisense RNA 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Leukoencephalopathy with vanishing white matter 4 | TATGTATACCTATGTAACAAACCTGCACATTGCGCACATGTACTGTAGAACTTAAAGTATAAAAAAAAAATTTGATAAAATGGTTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATTGCTTGAGGTCAAGAGTTCAAGACCAGCCTGACCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAAGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCGAGATAGT... | TATGTATACCTATGTAACAAACCTGCACATTGCGCACATGTACTGTAGAACTTAAAGTATAAAAAAAAAATTTGATAAAATGGTTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATTGCTTGAGGTCAAGAGTTCAAGACCAGCCTGACCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAAGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCGAGATAGT... |
Task1_train_3234 | A genomic change on Chromosome 2 affects EIF2B4, GTF3C2-AS2 (eukaryotic translation initiation factor 2B subunit delta| GTF3C2 antisense RNA 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Vanishing white matter disease | TATGTATACCTATGTAACAAACCTGCACATTGCGCACATGTACTGTAGAACTTAAAGTATAAAAAAAAAATTTGATAAAATGGTTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATTGCTTGAGGTCAAGAGTTCAAGACCAGCCTGACCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAAGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCGAGATAGT... | TATGTATACCTATGTAACAAACCTGCACATTGCGCACATGTACTGTAGAACTTAAAGTATAAAAAAAAAATTTGATAAAATGGTTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATTGCTTGAGGTCAAGAGTTCAAGACCAGCCTGACCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAAGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCGAGATAGT... |
Task1_train_3235 | Gene EIF2B4, GTF3C2-AS2 (eukaryotic translation initiation factor 2B subunit delta| GTF3C2 antisense RNA 2), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Leukoencephalopathy with vanishing white matter 4 | TGATAAAATGGTTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATTGCTTGAGGTCAAGAGTTCAAGACCAGCCTGACCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAAGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCGAGATAGTGCCATTGCACTCCAGCCTGGGAGACGAGTGACTCTTTCTCAAAAAAAAAAAAATTCAATAACACACATATAT... | TGATAAAATGGTTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATTGCTTGAGGTCAAGAGTTCAAGACCAGCCTGACCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAAGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCGAGATAGTGCCATTGCACTCCAGCCTGGGAGACGAGTGACTCTTTCTCAAAAAAAAAAAAATTCAATAACACACATATAT... |
Task1_train_3236 | Here is a variant affecting EIF2B4 (eukaryotic translation initiation factor 2B subunit delta) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Leukoencephalopathy with vanishing white matter 4 | TAAGTAGCTGGAACTACATGCGCATGCCACCATGCCCGGGTGTGTGTGTGTGTGTGTGTGTTCAAGCAGTCCTCTCACCTCAGCCTCCTAAGTAGCTGTGTGTGTGTGTGTGTGTGTGCGTGCGCGCGCGCACGCACTCAAGCAGTCCTCTCACCTCAGCCTAAGTAGCTGGAACTACATGCGCATGCCACCATGCCCGGGGTGGGGGTGGGGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTACAGGGTCTCATTATGTTGAGCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCT... | TAAGTAGCTGGAACTACATGCGCATGCCACCATGCCCGGGTGTGTGTGTGTGTGTGTGTGTTCAAGCAGTCCTCTCACCTCAGCCTCCTAAGTAGCTGTGTGTGTGTGTGTGTGTGTGCGTGCGCGCGCGCACGCACTCAAGCAGTCCTCTCACCTCAGCCTAAGTAGCTGGAACTACATGCGCATGCCACCATGCCCGGGGTGGGGGTGGGGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTACAGGGTCTCATTATGTTGAGCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCT... |
Task1_train_3237 | Assess the clinical impact of this variant on gene IFT172, KRTCAP3 (intraflagellar transport 172| keratinocyte associated protein 3), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Short-rib thoracic dysplasia 10 with or without polydactyly | CTGGCGTCTCGTCTCCTTACCCTGGGGCTACCCTTGCCCCGTCCTACTGCCCGCGGTTAACCCGCCGCGAGCCGCCTCTCCCCTCCCCGCCCGACTCAACCCTGCCCTCCCCCGTGCTTTGCAGACGCCGCCCGGGGGCCCAGGCGGCTGATGCGTGTGGGCCTCGCGCTGATCTTGGTGGGCCACGTGAACCTGCTGCTGGGGGCCGTGCTGCATGGCACCGTCCTGCGGCACGTGGCCAATCCCCGCGGCGCTGTCACGCCGGAGTACACCGTAGCCAATGTCATCTCTGTCGGCTCGGGGCTGCTGGTGAGCGCGGC... | CTGGCGTCTCGTCTCCTTACCCTGGGGCTACCCTTGCCCCGTCCTACTGCCCGCGGTTAACCCGCCGCGAGCCGCCTCTCCCCTCCCCGCCCGACTCAACCCTGCCCTCCCCCGTGCTTTGCAGACGCCGCCCGGGGGCCCAGGCGGCTGATGCGTGTGGGCCTCGCGCTGATCTTGGTGGGCCACGTGAACCTGCTGCTGGGGGCCGTGCTGCATGGCACCGTCCTGCGGCACGTGGCCAATCCCCGCGGCGCTGTCACGCCGGAGTACACCGTAGCCAATGTCATCTCTGTCGGCTCGGGGCTGCTGGTGAGCGCGGC... |
Task1_train_3238 | A mutation on Chromosome 2 affecting IFT172, KRTCAP3 (intraflagellar transport 172| keratinocyte associated protein 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Retinitis pigmentosa 71 | CTGGCGTCTCGTCTCCTTACCCTGGGGCTACCCTTGCCCCGTCCTACTGCCCGCGGTTAACCCGCCGCGAGCCGCCTCTCCCCTCCCCGCCCGACTCAACCCTGCCCTCCCCCGTGCTTTGCAGACGCCGCCCGGGGGCCCAGGCGGCTGATGCGTGTGGGCCTCGCGCTGATCTTGGTGGGCCACGTGAACCTGCTGCTGGGGGCCGTGCTGCATGGCACCGTCCTGCGGCACGTGGCCAATCCCCGCGGCGCTGTCACGCCGGAGTACACCGTAGCCAATGTCATCTCTGTCGGCTCGGGGCTGCTGGTGAGCGCGGC... | CTGGCGTCTCGTCTCCTTACCCTGGGGCTACCCTTGCCCCGTCCTACTGCCCGCGGTTAACCCGCCGCGAGCCGCCTCTCCCCTCCCCGCCCGACTCAACCCTGCCCTCCCCCGTGCTTTGCAGACGCCGCCCGGGGGCCCAGGCGGCTGATGCGTGTGGGCCTCGCGCTGATCTTGGTGGGCCACGTGAACCTGCTGCTGGGGGCCGTGCTGCATGGCACCGTCCTGCGGCACGTGGCCAATCCCCGCGGCGCTGTCACGCCGGAGTACACCGTAGCCAATGTCATCTCTGTCGGCTCGGGGCTGCTGGTGAGCGCGGC... |
Task1_train_3239 | Here is a mutation in IFT172, KRTCAP3 (intraflagellar transport 172| keratinocyte associated protein 3) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Retinitis pigmentosa | CTGGCGTCTCGTCTCCTTACCCTGGGGCTACCCTTGCCCCGTCCTACTGCCCGCGGTTAACCCGCCGCGAGCCGCCTCTCCCCTCCCCGCCCGACTCAACCCTGCCCTCCCCCGTGCTTTGCAGACGCCGCCCGGGGGCCCAGGCGGCTGATGCGTGTGGGCCTCGCGCTGATCTTGGTGGGCCACGTGAACCTGCTGCTGGGGGCCGTGCTGCATGGCACCGTCCTGCGGCACGTGGCCAATCCCCGCGGCGCTGTCACGCCGGAGTACACCGTAGCCAATGTCATCTCTGTCGGCTCGGGGCTGCTGGTGAGCGCGGC... | CTGGCGTCTCGTCTCCTTACCCTGGGGCTACCCTTGCCCCGTCCTACTGCCCGCGGTTAACCCGCCGCGAGCCGCCTCTCCCCTCCCCGCCCGACTCAACCCTGCCCTCCCCCGTGCTTTGCAGACGCCGCCCGGGGGCCCAGGCGGCTGATGCGTGTGGGCCTCGCGCTGATCTTGGTGGGCCACGTGAACCTGCTGCTGGGGGCCGTGCTGCATGGCACCGTCCTGCGGCACGTGGCCAATCCCCGCGGCGCTGTCACGCCGGAGTACACCGTAGCCAATGTCATCTCTGTCGGCTCGGGGCTGCTGGTGAGCGCGGC... |
Task1_train_3240 | The variant affects gene IFT172, KRTCAP3 (intraflagellar transport 172| keratinocyte associated protein 3), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Short-rib thoracic dysplasia 10 with or without polydactyly | CTGGCGTCTCGTCTCCTTACCCTGGGGCTACCCTTGCCCCGTCCTACTGCCCGCGGTTAACCCGCCGCGAGCCGCCTCTCCCCTCCCCGCCCGACTCAACCCTGCCCTCCCCCGTGCTTTGCAGACGCCGCCCGGGGGCCCAGGCGGCTGATGCGTGTGGGCCTCGCGCTGATCTTGGTGGGCCACGTGAACCTGCTGCTGGGGGCCGTGCTGCATGGCACCGTCCTGCGGCACGTGGCCAATCCCCGCGGCGCTGTCACGCCGGAGTACACCGTAGCCAATGTCATCTCTGTCGGCTCGGGGCTGCTGGTGAGCGCGGC... | CTGGCGTCTCGTCTCCTTACCCTGGGGCTACCCTTGCCCCGTCCTACTGCCCGCGGTTAACCCGCCGCGAGCCGCCTCTCCCCTCCCCGCCCGACTCAACCCTGCCCTCCCCCGTGCTTTGCAGACGCCGCCCGGGGGCCCAGGCGGCTGATGCGTGTGGGCCTCGCGCTGATCTTGGTGGGCCACGTGAACCTGCTGCTGGGGGCCGTGCTGCATGGCACCGTCCTGCGGCACGTGGCCAATCCCCGCGGCGCTGTCACGCCGGAGTACACCGTAGCCAATGTCATCTCTGTCGGCTCGGGGCTGCTGGTGAGCGCGGC... |
Task1_train_3241 | This alteration occurs within gene IFT172, KRTCAP3 (intraflagellar transport 172| keratinocyte associated protein 3) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Retinitis pigmentosa 71 | CTGGCGTCTCGTCTCCTTACCCTGGGGCTACCCTTGCCCCGTCCTACTGCCCGCGGTTAACCCGCCGCGAGCCGCCTCTCCCCTCCCCGCCCGACTCAACCCTGCCCTCCCCCGTGCTTTGCAGACGCCGCCCGGGGGCCCAGGCGGCTGATGCGTGTGGGCCTCGCGCTGATCTTGGTGGGCCACGTGAACCTGCTGCTGGGGGCCGTGCTGCATGGCACCGTCCTGCGGCACGTGGCCAATCCCCGCGGCGCTGTCACGCCGGAGTACACCGTAGCCAATGTCATCTCTGTCGGCTCGGGGCTGCTGGTGAGCGCGGC... | CTGGCGTCTCGTCTCCTTACCCTGGGGCTACCCTTGCCCCGTCCTACTGCCCGCGGTTAACCCGCCGCGAGCCGCCTCTCCCCTCCCCGCCCGACTCAACCCTGCCCTCCCCCGTGCTTTGCAGACGCCGCCCGGGGGCCCAGGCGGCTGATGCGTGTGGGCCTCGCGCTGATCTTGGTGGGCCACGTGAACCTGCTGCTGGGGGCCGTGCTGCATGGCACCGTCCTGCGGCACGTGGCCAATCCCCGCGGCGCTGTCACGCCGGAGTACACCGTAGCCAATGTCATCTCTGTCGGCTCGGGGCTGCTGGTGAGCGCGGC... |
Task1_train_3242 | A mutation on Chromosome 2 affecting IFT172, KRTCAP3 (intraflagellar transport 172| keratinocyte associated protein 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Bardet-Biedl syndrome 20 | CTGGCGTCTCGTCTCCTTACCCTGGGGCTACCCTTGCCCCGTCCTACTGCCCGCGGTTAACCCGCCGCGAGCCGCCTCTCCCCTCCCCGCCCGACTCAACCCTGCCCTCCCCCGTGCTTTGCAGACGCCGCCCGGGGGCCCAGGCGGCTGATGCGTGTGGGCCTCGCGCTGATCTTGGTGGGCCACGTGAACCTGCTGCTGGGGGCCGTGCTGCATGGCACCGTCCTGCGGCACGTGGCCAATCCCCGCGGCGCTGTCACGCCGGAGTACACCGTAGCCAATGTCATCTCTGTCGGCTCGGGGCTGCTGGTGAGCGCGGC... | CTGGCGTCTCGTCTCCTTACCCTGGGGCTACCCTTGCCCCGTCCTACTGCCCGCGGTTAACCCGCCGCGAGCCGCCTCTCCCCTCCCCGCCCGACTCAACCCTGCCCTCCCCCGTGCTTTGCAGACGCCGCCCGGGGGCCCAGGCGGCTGATGCGTGTGGGCCTCGCGCTGATCTTGGTGGGCCACGTGAACCTGCTGCTGGGGGCCGTGCTGCATGGCACCGTCCTGCGGCACGTGGCCAATCCCCGCGGCGCTGTCACGCCGGAGTACACCGTAGCCAATGTCATCTCTGTCGGCTCGGGGCTGCTGGTGAGCGCGGC... |
Task1_train_3243 | The gene IFT172, KRTCAP3 (intraflagellar transport 172| keratinocyte associated protein 3) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Short-rib thoracic dysplasia 10 with or without polydactyly | CTGGCGTCTCGTCTCCTTACCCTGGGGCTACCCTTGCCCCGTCCTACTGCCCGCGGTTAACCCGCCGCGAGCCGCCTCTCCCCTCCCCGCCCGACTCAACCCTGCCCTCCCCCGTGCTTTGCAGACGCCGCCCGGGGGCCCAGGCGGCTGATGCGTGTGGGCCTCGCGCTGATCTTGGTGGGCCACGTGAACCTGCTGCTGGGGGCCGTGCTGCATGGCACCGTCCTGCGGCACGTGGCCAATCCCCGCGGCGCTGTCACGCCGGAGTACACCGTAGCCAATGTCATCTCTGTCGGCTCGGGGCTGCTGGTGAGCGCGGC... | CTGGCGTCTCGTCTCCTTACCCTGGGGCTACCCTTGCCCCGTCCTACTGCCCGCGGTTAACCCGCCGCGAGCCGCCTCTCCCCTCCCCGCCCGACTCAACCCTGCCCTCCCCCGTGCTTTGCAGACGCCGCCCGGGGGCCCAGGCGGCTGATGCGTGTGGGCCTCGCGCTGATCTTGGTGGGCCACGTGAACCTGCTGCTGGGGGCCGTGCTGCATGGCACCGTCCTGCGGCACGTGGCCAATCCCCGCGGCGCTGTCACGCCGGAGTACACCGTAGCCAATGTCATCTCTGTCGGCTCGGGGCTGCTGGTGAGCGCGGC... |
Task1_train_3244 | Given this context: Chromosome 2, gene IFT172, KRTCAP3 (intraflagellar transport 172| keratinocyte associated protein 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Retinitis pigmentosa 71 | ACAAAACAAAAAAAAGATGCTGACCTATCATTCAGGGCGAGGGTGTCTAACTCTATCTTCTTCTGCAGCTAGAGGAAATGACAGAGCTTGAATCTCCTAAATGTAAAAGGCAGGAAAATGAGCAGCTACTGGATCAAAATCAAGAAATCCGGGCATCACAGAGAAGTTGGGTTTAGGACAGGTAATGGGCCTTGAAGGTGGTGGCCCGGGTAAGAGCGGGGACAAGGAAGTGCTCTTAGAACTGGGTCTAGGTCTTGCCATGCTGCTTTCCCCTCTGACCTGGGTTGGTTCTCCCCTCTGTCCAGCAGGTGCTGTTCCGA... | ACAAAACAAAAAAAAGATGCTGACCTATCATTCAGGGCGAGGGTGTCTAACTCTATCTTCTTCTGCAGCTAGAGGAAATGACAGAGCTTGAATCTCCTAAATGTAAAAGGCAGGAAAATGAGCAGCTACTGGATCAAAATCAAGAAATCCGGGCATCACAGAGAAGTTGGGTTTAGGACAGGTAATGGGCCTTGAAGGTGGTGGCCCGGGTAAGAGCGGGGACAAGGAAGTGCTCTTAGAACTGGGTCTAGGTCTTGCCATGCTGCTTTCCCCTCTGACCTGGGTTGGTTCTCCCCTCTGTCCAGCAGGTGCTGTTCCGA... |
Task1_train_3245 | This gene mutation involves IFT172, KRTCAP3 (intraflagellar transport 172| keratinocyte associated protein 3) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Short-rib thoracic dysplasia 10 with or without polydactyly | AATTGTAATAAAGTAACTTCTCTTTTCTTCTACTTGATTATGATTCCTTTTGGGGAAAAGGCACTGTGTGGTGTTGGGAATGACTTTGATCAAAGAATACAGTGGTCTCAATTATTTATAAAACTTTAATGAGGGAGAGGCCCTAACTCTTCCTCAGCTCTACCAACTACTGAAAGGAAAAGCTGGTGCTGGGGAGCCCTCCACACCACTGACTGATGAATTTCAGCACGTCCTGGCACACTGGGCTGTGGGAGGTCTGTGAGCAAATGGAAGAACATGAGAGGAACTTGTTAATGCTGGAAATACAAAATCAGCTCCAT... | AATTGTAATAAAGTAACTTCTCTTTTCTTCTACTTGATTATGATTCCTTTTGGGGAAAAGGCACTGTGTGGTGTTGGGAATGACTTTGATCAAAGAATACAGTGGTCTCAATTATTTATAAAACTTTAATGAGGGAGAGGCCCTAACTCTTCCTCAGCTCTACCAACTACTGAAAGGAAAAGCTGGTGCTGGGGAGCCCTCCACACCACTGACTGATGAATTTCAGCACGTCCTGGCACACTGGGCTGTGGGAGGTCTGTGAGCAAATGGAAGAACATGAGAGGAACTTGTTAATGCTGGAAATACAAAATCAGCTCCAT... |
Task1_train_3246 | Gene IFT172, KRTCAP3 (intraflagellar transport 172| keratinocyte associated protein 3), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Retinitis pigmentosa 71 | AATTGTAATAAAGTAACTTCTCTTTTCTTCTACTTGATTATGATTCCTTTTGGGGAAAAGGCACTGTGTGGTGTTGGGAATGACTTTGATCAAAGAATACAGTGGTCTCAATTATTTATAAAACTTTAATGAGGGAGAGGCCCTAACTCTTCCTCAGCTCTACCAACTACTGAAAGGAAAAGCTGGTGCTGGGGAGCCCTCCACACCACTGACTGATGAATTTCAGCACGTCCTGGCACACTGGGCTGTGGGAGGTCTGTGAGCAAATGGAAGAACATGAGAGGAACTTGTTAATGCTGGAAATACAAAATCAGCTCCAT... | AATTGTAATAAAGTAACTTCTCTTTTCTTCTACTTGATTATGATTCCTTTTGGGGAAAAGGCACTGTGTGGTGTTGGGAATGACTTTGATCAAAGAATACAGTGGTCTCAATTATTTATAAAACTTTAATGAGGGAGAGGCCCTAACTCTTCCTCAGCTCTACCAACTACTGAAAGGAAAAGCTGGTGCTGGGGAGCCCTCCACACCACTGACTGATGAATTTCAGCACGTCCTGGCACACTGGGCTGTGGGAGGTCTGTGAGCAAATGGAAGAACATGAGAGGAACTTGTTAATGCTGGAAATACAAAATCAGCTCCAT... |
Task1_train_3247 | This alteration in IFT172 (intraflagellar transport 172) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | AGGAGGGGGTTTGCTAAGCCCTCATCCTGTATACCAGCTTTTAGCCACGAATCCTCCTTGGATTGGGGGATGCAGTCACAGCCTTTTCTTTCTATTTTGCTTCTACTTTCACTGAAAAAACAGTGAGGGCTGAGGTCCTTCCAAAGATGGCAGCACAAAGATATTCTCCCTCCTCAAGGCACTCACACTGGTGAGGCCTTCCGGTTTTCCAACCCTGTGCCCTTACCGGTACATGCTGCTTAGCTGGGAGTGGCACCTCAAAGGGAATGTCTGTATCCTGAAAATCAGAGTGGTCAAGGCCATCTAGAGTCCCTTCCTCG... | AGGAGGGGGTTTGCTAAGCCCTCATCCTGTATACCAGCTTTTAGCCACGAATCCTCCTTGGATTGGGGGATGCAGTCACAGCCTTTTCTTTCTATTTTGCTTCTACTTTCACTGAAAAAACAGTGAGGGCTGAGGTCCTTCCAAAGATGGCAGCACAAAGATATTCTCCCTCCTCAAGGCACTCACACTGGTGAGGCCTTCCGGTTTTCCAACCCTGTGCCCTTACCGGTACATGCTGCTTAGCTGGGAGTGGCACCTCAAAGGGAATGTCTGTATCCTGAAAATCAGAGTGGTCAAGGCCATCTAGAGTCCCTTCCTCG... |
Task1_train_3248 | This alteration in IFT172 (intraflagellar transport 172) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Short-rib thoracic dysplasia 10 with or without polydactyly | GAGAACAATTTGGAAATAGTGAAGTTGAAGACACAGCTCCTCTATGATTTAGCAGTTCCATTCTAGGCATGGAACTAACTGAATCACTGTAATAGTGAAAAATCAGCAACTTAAATGCCCATCAATAAGAGGGAGGATATAAAATGATTCAATGTAAATATAACAAAATGTCAGGATTTGACAGAACTGGGTATGGATAAACAAGTGATAATATCTTCTTTTAAAAAATTGGTTTAAAGTGGAAAGCTTCATAAATTTGTGTGTCATCCTTGCACGGGGCCATGCTAATCTTCTCTTTATCATTCCAATTTTAATATATG... | GAGAACAATTTGGAAATAGTGAAGTTGAAGACACAGCTCCTCTATGATTTAGCAGTTCCATTCTAGGCATGGAACTAACTGAATCACTGTAATAGTGAAAAATCAGCAACTTAAATGCCCATCAATAAGAGGGAGGATATAAAATGATTCAATGTAAATATAACAAAATGTCAGGATTTGACAGAACTGGGTATGGATAAACAAGTGATAATATCTTCTTTTAAAAAATTGGTTTAAAGTGGAAAGCTTCATAAATTTGTGTGTCATCCTTGCACGGGGCCATGCTAATCTTCTCTTTATCATTCCAATTTTAATATATG... |
Task1_train_3249 | A variant has been detected on Chromosome 2 in IFT172 (intraflagellar transport 172). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Retinitis pigmentosa 71 | CTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGATGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCACAACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCCAGCCAAAACTTTTCTTATAATAAGCTGCAAGA... | CTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGATGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCACAACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCCAGCCAAAACTTTTCTTATAATAAGCTGCAAGA... |
Task1_train_3250 | Gene PPP1CB (protein phosphatase 1 catalytic subunit beta) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; RASopathy | TGTTTTGAATTTCAGGGATAGTCTTATAAACTAGCATATTTGCTAAAGCACATTTGAATGTTGTCTGTGTCTCCTGTTTATTGCCTCCTTTTTACTTTTATATTAATATATTAATGGAATATATAGCTTTTGCATGTGGAGGCCTTTTTTTTTTTAAAGCCTCTTATTGACCTGACAAAGGAATCAGCAATTTTTAGCAAGAAATATGTGGAATTTTATTTTACTTTGGAGATGGGGTCTCACTCTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGTAGCCTCTGCCTTCTGGGGTCAAGTGAACGTTCC... | TGTTTTGAATTTCAGGGATAGTCTTATAAACTAGCATATTTGCTAAAGCACATTTGAATGTTGTCTGTGTCTCCTGTTTATTGCCTCCTTTTTACTTTTATATTAATATATTAATGGAATATATAGCTTTTGCATGTGGAGGCCTTTTTTTTTTTAAAGCCTCTTATTGACCTGACAAAGGAATCAGCAATTTTTAGCAAGAAATATGTGGAATTTTATTTTACTTTGGAGATGGGGTCTCACTCTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGTAGCCTCTGCCTTCTGGGGTCAAGTGAACGTTCC... |
Task1_train_3251 | This variant impacts the gene PPP1CB (protein phosphatase 1 catalytic subunit beta) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; RASopathy | GTCTTATAAACTAGCATATTTGCTAAAGCACATTTGAATGTTGTCTGTGTCTCCTGTTTATTGCCTCCTTTTTACTTTTATATTAATATATTAATGGAATATATAGCTTTTGCATGTGGAGGCCTTTTTTTTTTTAAAGCCTCTTATTGACCTGACAAAGGAATCAGCAATTTTTAGCAAGAAATATGTGGAATTTTATTTTACTTTGGAGATGGGGTCTCACTCTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGTAGCCTCTGCCTTCTGGGGTCAAGTGAACGTTCCACCTCAACCTCTGCCTTGAG... | GTCTTATAAACTAGCATATTTGCTAAAGCACATTTGAATGTTGTCTGTGTCTCCTGTTTATTGCCTCCTTTTTACTTTTATATTAATATATTAATGGAATATATAGCTTTTGCATGTGGAGGCCTTTTTTTTTTTAAAGCCTCTTATTGACCTGACAAAGGAATCAGCAATTTTTAGCAAGAAATATGTGGAATTTTATTTTACTTTGGAGATGGGGTCTCACTCTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGTAGCCTCTGCCTTCTGGGGTCAAGTGAACGTTCCACCTCAACCTCTGCCTTGAG... |
Task1_train_3252 | Consider this mutation in PPP1CB (protein phosphatase 1 catalytic subunit beta) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; RASopathy | TATTCGGAAAATACCTATAATAATCAAGAGGCTGTGGGAAAACAAAGCAGTGCTTGTATGAAAACTCAAGTGATTAAAACTGTTTTAAACATGGCTAAACCTCTTTTAAAAATTAGAAATTTATTTATAAATGAAAACGTAATGCTTCTTTAAATACAGTTTCACATATAAGGAGTGTAACTAGAGTTGTTTGAGAAAGTCTCCTTTGCCTCAAGTTTTAACAGAAAGACACCCCTGCTATTTATTAGTAAAAATGAGAGGATATCTTCCTGCCTATATTGAAATCTTTCATCAGAATCCAAATAAAATTGAGTTTCATA... | TATTCGGAAAATACCTATAATAATCAAGAGGCTGTGGGAAAACAAAGCAGTGCTTGTATGAAAACTCAAGTGATTAAAACTGTTTTAAACATGGCTAAACCTCTTTTAAAAATTAGAAATTTATTTATAAATGAAAACGTAATGCTTCTTTAAATACAGTTTCACATATAAGGAGTGTAACTAGAGTTGTTTGAGAAAGTCTCCTTTGCCTCAAGTTTTAACAGAAAGACACCCCTGCTATTTATTAGTAAAAATGAGAGGATATCTTCCTGCCTATATTGAAATCTTTCATCAGAATCCAAATAAAATTGAGTTTCATA... |
Task1_train_3253 | This mutation occurs in PPP1CB (protein phosphatase 1 catalytic subunit beta) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; RASopathy | TATTCGGAAAATACCTATAATAATCAAGAGGCTGTGGGAAAACAAAGCAGTGCTTGTATGAAAACTCAAGTGATTAAAACTGTTTTAAACATGGCTAAACCTCTTTTAAAAATTAGAAATTTATTTATAAATGAAAACGTAATGCTTCTTTAAATACAGTTTCACATATAAGGAGTGTAACTAGAGTTGTTTGAGAAAGTCTCCTTTGCCTCAAGTTTTAACAGAAAGACACCCCTGCTATTTATTAGTAAAAATGAGAGGATATCTTCCTGCCTATATTGAAATCTTTCATCAGAATCCAAATAAAATTGAGTTTCATA... | TATTCGGAAAATACCTATAATAATCAAGAGGCTGTGGGAAAACAAAGCAGTGCTTGTATGAAAACTCAAGTGATTAAAACTGTTTTAAACATGGCTAAACCTCTTTTAAAAATTAGAAATTTATTTATAAATGAAAACGTAATGCTTCTTTAAATACAGTTTCACATATAAGGAGTGTAACTAGAGTTGTTTGAGAAAGTCTCCTTTGCCTCAAGTTTTAACAGAAAGACACCCCTGCTATTTATTAGTAAAAATGAGAGGATATCTTCCTGCCTATATTGAAATCTTTCATCAGAATCCAAATAAAATTGAGTTTCATA... |
Task1_train_3254 | The gene PPP1CB (protein phosphatase 1 catalytic subunit beta) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; RASopathy | AATAATTGTCTCTAAAATTCTAGAAATATTCCCTTTAAAAAAGAAAATTTGAAAGAATGAACAAGTAAGCAAACTAAAAAACCAAGAACTAAAAACATGGAGTCCATGACCAGCCTGGGCAACACAGTGAAACACGAAACCCTGTCTCTACAAAAAAATACAAAAAACTGGCTGGGCACCGTGGCTCACGCCTGAAGTCCCAGCATTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGAAAAACATGGAGAAACCCCATCTCTACTAAAAATATAAAATTAGCTGGGCACGGTGGCA... | AATAATTGTCTCTAAAATTCTAGAAATATTCCCTTTAAAAAAGAAAATTTGAAAGAATGAACAAGTAAGCAAACTAAAAAACCAAGAACTAAAAACATGGAGTCCATGACCAGCCTGGGCAACACAGTGAAACACGAAACCCTGTCTCTACAAAAAAATACAAAAAACTGGCTGGGCACCGTGGCTCACGCCTGAAGTCCCAGCATTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGAAAAACATGGAGAAACCCCATCTCTACTAAAAATATAAAATTAGCTGGGCACGGTGGCA... |
Task1_train_3255 | An alteration has been detected in ALK (ALK receptor tyrosine kinase) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Neuroblastoma, susceptibility to, 3 | GTAATCTAGACAGCTGTGTGGATGCTGCCTCCCATGACACACCCAGACAAAAGAACACAGGGCTAGGTGTGGAGTTGGCTTACAAGGTAGATGAGTTAATTTATTAGTTTTCATCAGTAATGTCATTAATGCAACTCACTGCTAAAAACCAATAAATTAACTCATCTGCCTGTTAGGCCAATTGCATGTCTAGCCTGGTGTTCTCCTGTGTGAGTGTGTTACAGGAAGCAGCTTCCTGCCAGCTGTCGACATTAATTAATTACCTCAATAAATAAGTACTGAATATTTAGTATGTATCAGGTACTCTGCCATGTGCTGAG... | GTAATCTAGACAGCTGTGTGGATGCTGCCTCCCATGACACACCCAGACAAAAGAACACAGGGCTAGGTGTGGAGTTGGCTTACAAGGTAGATGAGTTAATTTATTAGTTTTCATCAGTAATGTCATTAATGCAACTCACTGCTAAAAACCAATAAATTAACTCATCTGCCTGTTAGGCCAATTGCATGTCTAGCCTGGTGTTCTCCTGTGTGAGTGTGTTACAGGAAGCAGCTTCCTGCCAGCTGTCGACATTAATTAATTACCTCAATAAATAAGTACTGAATATTTAGTATGTATCAGGTACTCTGCCATGTGCTGAG... |
Task1_train_3256 | An alteration has been detected in ALK (ALK receptor tyrosine kinase) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary cancer-predisposing syndrome | ACAGCTGTGTGGATGCTGCCTCCCATGACACACCCAGACAAAAGAACACAGGGCTAGGTGTGGAGTTGGCTTACAAGGTAGATGAGTTAATTTATTAGTTTTCATCAGTAATGTCATTAATGCAACTCACTGCTAAAAACCAATAAATTAACTCATCTGCCTGTTAGGCCAATTGCATGTCTAGCCTGGTGTTCTCCTGTGTGAGTGTGTTACAGGAAGCAGCTTCCTGCCAGCTGTCGACATTAATTAATTACCTCAATAAATAAGTACTGAATATTTAGTATGTATCAGGTACTCTGCCATGTGCTGAGGACATAAAT... | ACAGCTGTGTGGATGCTGCCTCCCATGACACACCCAGACAAAAGAACACAGGGCTAGGTGTGGAGTTGGCTTACAAGGTAGATGAGTTAATTTATTAGTTTTCATCAGTAATGTCATTAATGCAACTCACTGCTAAAAACCAATAAATTAACTCATCTGCCTGTTAGGCCAATTGCATGTCTAGCCTGGTGTTCTCCTGTGTGAGTGTGTTACAGGAAGCAGCTTCCTGCCAGCTGTCGACATTAATTAATTACCTCAATAAATAAGTACTGAATATTTAGTATGTATCAGGTACTCTGCCATGTGCTGAGGACATAAAT... |
Task1_train_3257 | This is a variant in ALK (ALK receptor tyrosine kinase), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Neuroblastoma, susceptibility to, 3 | ACAGCTGTGTGGATGCTGCCTCCCATGACACACCCAGACAAAAGAACACAGGGCTAGGTGTGGAGTTGGCTTACAAGGTAGATGAGTTAATTTATTAGTTTTCATCAGTAATGTCATTAATGCAACTCACTGCTAAAAACCAATAAATTAACTCATCTGCCTGTTAGGCCAATTGCATGTCTAGCCTGGTGTTCTCCTGTGTGAGTGTGTTACAGGAAGCAGCTTCCTGCCAGCTGTCGACATTAATTAATTACCTCAATAAATAAGTACTGAATATTTAGTATGTATCAGGTACTCTGCCATGTGCTGAGGACATAAAT... | ACAGCTGTGTGGATGCTGCCTCCCATGACACACCCAGACAAAAGAACACAGGGCTAGGTGTGGAGTTGGCTTACAAGGTAGATGAGTTAATTTATTAGTTTTCATCAGTAATGTCATTAATGCAACTCACTGCTAAAAACCAATAAATTAACTCATCTGCCTGTTAGGCCAATTGCATGTCTAGCCTGGTGTTCTCCTGTGTGAGTGTGTTACAGGAAGCAGCTTCCTGCCAGCTGTCGACATTAATTAATTACCTCAATAAATAAGTACTGAATATTTAGTATGTATCAGGTACTCTGCCATGTGCTGAGGACATAAAT... |
Task1_train_3258 | This variant affects the gene ALK (ALK receptor tyrosine kinase) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Neuroblastoma, susceptibility to, 3 | GTCTTGAGGGAATGTAATCCTGTTAACATCATAGCAACAGAGCATTGGGTATCATCAAAATGTCTTGTGGCTGTAGGAAAGGAGATGTCAAAAGGTCAGAGGACAAATGGAAATGATCCCTCAGCCAGAGAATCTGTATGCTATGGTGACCAACGTGGGCAGAGATAAAAAACAAAAGACAAGTAGAAAAGATCCCAGTGCTAAGTGAAGGAAGACATCTGGCCACCAGGTGACGCGGGTTGCTCTCATAGGAGTCTAGACTTAAAGCACATGGACAAAGATGGAAAGATGACTCTAACCAAGGACGACTTCAAAAGGAG... | GTCTTGAGGGAATGTAATCCTGTTAACATCATAGCAACAGAGCATTGGGTATCATCAAAATGTCTTGTGGCTGTAGGAAAGGAGATGTCAAAAGGTCAGAGGACAAATGGAAATGATCCCTCAGCCAGAGAATCTGTATGCTATGGTGACCAACGTGGGCAGAGATAAAAAACAAAAGACAAGTAGAAAAGATCCCAGTGCTAAGTGAAGGAAGACATCTGGCCACCAGGTGACGCGGGTTGCTCTCATAGGAGTCTAGACTTAAAGCACATGGACAAAGATGGAAAGATGACTCTAACCAAGGACGACTTCAAAAGGAG... |
Task1_train_3259 | The gene ALK (ALK receptor tyrosine kinase), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Neuroblastoma, susceptibility to, 3 | TCTTGAGGGAATGTAATCCTGTTAACATCATAGCAACAGAGCATTGGGTATCATCAAAATGTCTTGTGGCTGTAGGAAAGGAGATGTCAAAAGGTCAGAGGACAAATGGAAATGATCCCTCAGCCAGAGAATCTGTATGCTATGGTGACCAACGTGGGCAGAGATAAAAAACAAAAGACAAGTAGAAAAGATCCCAGTGCTAAGTGAAGGAAGACATCTGGCCACCAGGTGACGCGGGTTGCTCTCATAGGAGTCTAGACTTAAAGCACATGGACAAAGATGGAAAGATGACTCTAACCAAGGACGACTTCAAAAGGAGC... | TCTTGAGGGAATGTAATCCTGTTAACATCATAGCAACAGAGCATTGGGTATCATCAAAATGTCTTGTGGCTGTAGGAAAGGAGATGTCAAAAGGTCAGAGGACAAATGGAAATGATCCCTCAGCCAGAGAATCTGTATGCTATGGTGACCAACGTGGGCAGAGATAAAAAACAAAAGACAAGTAGAAAAGATCCCAGTGCTAAGTGAAGGAAGACATCTGGCCACCAGGTGACGCGGGTTGCTCTCATAGGAGTCTAGACTTAAAGCACATGGACAAAGATGGAAAGATGACTCTAACCAAGGACGACTTCAAAAGGAGC... |
Task1_train_3260 | Given this variant in gene ALK (ALK receptor tyrosine kinase) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Neuroblastoma, susceptibility to, 3 | CTTGAGGGAATGTAATCCTGTTAACATCATAGCAACAGAGCATTGGGTATCATCAAAATGTCTTGTGGCTGTAGGAAAGGAGATGTCAAAAGGTCAGAGGACAAATGGAAATGATCCCTCAGCCAGAGAATCTGTATGCTATGGTGACCAACGTGGGCAGAGATAAAAAACAAAAGACAAGTAGAAAAGATCCCAGTGCTAAGTGAAGGAAGACATCTGGCCACCAGGTGACGCGGGTTGCTCTCATAGGAGTCTAGACTTAAAGCACATGGACAAAGATGGAAAGATGACTCTAACCAAGGACGACTTCAAAAGGAGCA... | CTTGAGGGAATGTAATCCTGTTAACATCATAGCAACAGAGCATTGGGTATCATCAAAATGTCTTGTGGCTGTAGGAAAGGAGATGTCAAAAGGTCAGAGGACAAATGGAAATGATCCCTCAGCCAGAGAATCTGTATGCTATGGTGACCAACGTGGGCAGAGATAAAAAACAAAAGACAAGTAGAAAAGATCCCAGTGCTAAGTGAAGGAAGACATCTGGCCACCAGGTGACGCGGGTTGCTCTCATAGGAGTCTAGACTTAAAGCACATGGACAAAGATGGAAAGATGACTCTAACCAAGGACGACTTCAAAAGGAGCA... |
Task1_train_3261 | Given this variant in gene ALK (ALK receptor tyrosine kinase) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Neuroblastoma, susceptibility to, 3 | AAGGTCCAGTGGGAGAACCAGGGCTGTGCCTCTTCCCAAAGTGTGATGCCACGTGTCCCCCACTGACAGCAGTGCTGCTGAGAATCTCAGGGCATGAGGGCCAAAGGCTCTGCCTTCCTAGGTGGTGGTGGGAAAGCCAGTGAATCTGATGCCTGTACCATGGCAGAGATGCCTGGATGCCTGGCAGTGTTGGCTCTAAGGACACAACCTCATCTTGATAGTTTACAGCTTCCCAGAGGGGACCACTGGATAAGCAGTAAGTTGGAGAGGGCACTGAATCAAGAGTCACAAGGCCTGAGTTCTAGTCCCAGCTCTTCCAC... | AAGGTCCAGTGGGAGAACCAGGGCTGTGCCTCTTCCCAAAGTGTGATGCCACGTGTCCCCCACTGACAGCAGTGCTGCTGAGAATCTCAGGGCATGAGGGCCAAAGGCTCTGCCTTCCTAGGTGGTGGTGGGAAAGCCAGTGAATCTGATGCCTGTACCATGGCAGAGATGCCTGGATGCCTGGCAGTGTTGGCTCTAAGGACACAACCTCATCTTGATAGTTTACAGCTTCCCAGAGGGGACCACTGGATAAGCAGTAAGTTGGAGAGGGCACTGAATCAAGAGTCACAAGGCCTGAGTTCTAGTCCCAGCTCTTCCAC... |
Task1_train_3262 | This variant lies on Chromosome 2 and affects the gene ALK (ALK receptor tyrosine kinase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; ALK-related disorder | GTCCCCCACTGACAGCAGTGCTGCTGAGAATCTCAGGGCATGAGGGCCAAAGGCTCTGCCTTCCTAGGTGGTGGTGGGAAAGCCAGTGAATCTGATGCCTGTACCATGGCAGAGATGCCTGGATGCCTGGCAGTGTTGGCTCTAAGGACACAACCTCATCTTGATAGTTTACAGCTTCCCAGAGGGGACCACTGGATAAGCAGTAAGTTGGAGAGGGCACTGAATCAAGAGTCACAAGGCCTGAGTTCTAGTCCCAGCTCTTCCACTTCCTGTGTGGCCATGGCAAGTCCCGTAATCTCTCTGGGCCACCGTTTTCTCAT... | GTCCCCCACTGACAGCAGTGCTGCTGAGAATCTCAGGGCATGAGGGCCAAAGGCTCTGCCTTCCTAGGTGGTGGTGGGAAAGCCAGTGAATCTGATGCCTGTACCATGGCAGAGATGCCTGGATGCCTGGCAGTGTTGGCTCTAAGGACACAACCTCATCTTGATAGTTTACAGCTTCCCAGAGGGGACCACTGGATAAGCAGTAAGTTGGAGAGGGCACTGAATCAAGAGTCACAAGGCCTGAGTTCTAGTCCCAGCTCTTCCACTTCCTGTGTGGCCATGGCAAGTCCCGTAATCTCTCTGGGCCACCGTTTTCTCAT... |
Task1_train_3263 | A variant was discovered on Chromosome 2, affecting ALK (ALK receptor tyrosine kinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Neuroblastoma, susceptibility to, 3 | TCCCCCACTGACAGCAGTGCTGCTGAGAATCTCAGGGCATGAGGGCCAAAGGCTCTGCCTTCCTAGGTGGTGGTGGGAAAGCCAGTGAATCTGATGCCTGTACCATGGCAGAGATGCCTGGATGCCTGGCAGTGTTGGCTCTAAGGACACAACCTCATCTTGATAGTTTACAGCTTCCCAGAGGGGACCACTGGATAAGCAGTAAGTTGGAGAGGGCACTGAATCAAGAGTCACAAGGCCTGAGTTCTAGTCCCAGCTCTTCCACTTCCTGTGTGGCCATGGCAAGTCCCGTAATCTCTCTGGGCCACCGTTTTCTCATC... | TCCCCCACTGACAGCAGTGCTGCTGAGAATCTCAGGGCATGAGGGCCAAAGGCTCTGCCTTCCTAGGTGGTGGTGGGAAAGCCAGTGAATCTGATGCCTGTACCATGGCAGAGATGCCTGGATGCCTGGCAGTGTTGGCTCTAAGGACACAACCTCATCTTGATAGTTTACAGCTTCCCAGAGGGGACCACTGGATAAGCAGTAAGTTGGAGAGGGCACTGAATCAAGAGTCACAAGGCCTGAGTTCTAGTCCCAGCTCTTCCACTTCCTGTGTGGCCATGGCAAGTCCCGTAATCTCTCTGGGCCACCGTTTTCTCATC... |
Task1_train_3264 | A variant on Chromosome 2 in gene ALK (ALK receptor tyrosine kinase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Neuroblastoma, susceptibility to, 3 | TCCCCCACTGACAGCAGTGCTGCTGAGAATCTCAGGGCATGAGGGCCAAAGGCTCTGCCTTCCTAGGTGGTGGTGGGAAAGCCAGTGAATCTGATGCCTGTACCATGGCAGAGATGCCTGGATGCCTGGCAGTGTTGGCTCTAAGGACACAACCTCATCTTGATAGTTTACAGCTTCCCAGAGGGGACCACTGGATAAGCAGTAAGTTGGAGAGGGCACTGAATCAAGAGTCACAAGGCCTGAGTTCTAGTCCCAGCTCTTCCACTTCCTGTGTGGCCATGGCAAGTCCCGTAATCTCTCTGGGCCACCGTTTTCTCATC... | TCCCCCACTGACAGCAGTGCTGCTGAGAATCTCAGGGCATGAGGGCCAAAGGCTCTGCCTTCCTAGGTGGTGGTGGGAAAGCCAGTGAATCTGATGCCTGTACCATGGCAGAGATGCCTGGATGCCTGGCAGTGTTGGCTCTAAGGACACAACCTCATCTTGATAGTTTACAGCTTCCCAGAGGGGACCACTGGATAAGCAGTAAGTTGGAGAGGGCACTGAATCAAGAGTCACAAGGCCTGAGTTCTAGTCCCAGCTCTTCCACTTCCTGTGTGGCCATGGCAAGTCCCGTAATCTCTCTGGGCCACCGTTTTCTCATC... |
Task1_train_3265 | A sequence alteration has been identified in ALK (ALK receptor tyrosine kinase) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Neuroblastoma | ATGTAAGACGTGCCTCCTTCCCCTTCACCTTCTGCAATGATTGTAAGTTTCCTGAGGCCTCCCCAACCATGCTTCCTGTACAGCCTGCAGAACTATGAGCCACTTAAATCTCTTTTCTTTGTAAATTACTCAGAGTCAGGTAGTTCTTATATAAATGCAAGAATGGACTAATACAAATGCATTGCAGGAGCCTTGCACAAGCTCCTTGGGGCTGGGGCTCAGCCATCATCTACCTCTATCTTCTGTCCATTCTCTTCCAGCCAGTCAGTCACCCCCCTGTCCAAGCCTAAAGTTGACACCCTGGGTTCCATCGAGGAACT... | ATGTAAGACGTGCCTCCTTCCCCTTCACCTTCTGCAATGATTGTAAGTTTCCTGAGGCCTCCCCAACCATGCTTCCTGTACAGCCTGCAGAACTATGAGCCACTTAAATCTCTTTTCTTTGTAAATTACTCAGAGTCAGGTAGTTCTTATATAAATGCAAGAATGGACTAATACAAATGCATTGCAGGAGCCTTGCACAAGCTCCTTGGGGCTGGGGCTCAGCCATCATCTACCTCTATCTTCTGTCCATTCTCTTCCAGCCAGTCAGTCACCCCCCTGTCCAAGCCTAAAGTTGACACCCTGGGTTCCATCGAGGAACT... |
Task1_train_3266 | Given this variant in gene XDH (xanthine dehydrogenase) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary xanthinuria type 1 | ACATCTTCCTATCCTGGCAAAGGTTCCTGCAGAGGTTTCTGCTCTGATATGCCGTGTCTGCCTGTCTGTCTCTCCAATTTTTTGGACAATGAGTTGTCCTGTGACCTCATTCCTCTGATGGATCTAAAAACAACTGTTGATTCTTCAGTTTGTTCAGCCTTTTTCTTCTTGTTTAGATGAAATAAAGACTCCTAAGCTGCTTACATGCCAGACCAGAAACTGGAAGTCTTGCTTGTACCTGTTTAATGGTTCCTCCATTTCTTTCCTTGTCACCAGATAGCTGTGGTCACTTCTCGCCGTGAGCAGTGTGCCCACCTCTA... | ACATCTTCCTATCCTGGCAAAGGTTCCTGCAGAGGTTTCTGCTCTGATATGCCGTGTCTGCCTGTCTGTCTCTCCAATTTTTTGGACAATGAGTTGTCCTGTGACCTCATTCCTCTGATGGATCTAAAAACAACTGTTGATTCTTCAGTTTGTTCAGCCTTTTTCTTCTTGTTTAGATGAAATAAAGACTCCTAAGCTGCTTACATGCCAGACCAGAAACTGGAAGTCTTGCTTGTACCTGTTTAATGGTTCCTCCATTTCTTTCCTTGTCACCAGATAGCTGTGGTCACTTCTCGCCGTGAGCAGTGTGCCCACCTCTA... |
Task1_train_3267 | A variant on Chromosome 2 in gene SRD5A2 (steroid 5 alpha-reductase 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | AAATAAAGGACTTAAGCAAGGTAGTTTTCAATGTCATGGAGAGAACTGGAAGTCTTTTATGTCACAGAGCTCAAGCTACACCTGAAGATTTACTTCACCAAGTGTGTTCATTCCCCCTGTGTATTCCTCAGCACCAGGAGTGGCATCTAACCTCATGACGTTTTCCTGCACCTTTATTGTACTTCCTTGTAGTTCTGAATTGTGGCTGAGAGGCTGTATAAGTCATACTTCTTTATTTCCAGCACACAGCCCCTAATTTCATGAAGAGAGAAGAGAAGAAAGGAAACGACACTACAGACAGGGTGAATGGGAATGAGGGA... | AAATAAAGGACTTAAGCAAGGTAGTTTTCAATGTCATGGAGAGAACTGGAAGTCTTTTATGTCACAGAGCTCAAGCTACACCTGAAGATTTACTTCACCAAGTGTGTTCATTCCCCCTGTGTATTCCTCAGCACCAGGAGTGGCATCTAACCTCATGACGTTTTCCTGCACCTTTATTGTACTTCCTTGTAGTTCTGAATTGTGGCTGAGAGGCTGTATAAGTCATACTTCTTTATTTCCAGCACACAGCCCCTAATTTCATGAAGAGAGAAGAGAAGAAAGGAAACGACACTACAGACAGGGTGAATGGGAATGAGGGA... |
Task1_train_3268 | A variant on Chromosome 2 in gene SRD5A2 (steroid 5 alpha-reductase 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; See cases | GTCATGGAGAGAACTGGAAGTCTTTTATGTCACAGAGCTCAAGCTACACCTGAAGATTTACTTCACCAAGTGTGTTCATTCCCCCTGTGTATTCCTCAGCACCAGGAGTGGCATCTAACCTCATGACGTTTTCCTGCACCTTTATTGTACTTCCTTGTAGTTCTGAATTGTGGCTGAGAGGCTGTATAAGTCATACTTCTTTATTTCCAGCACACAGCCCCTAATTTCATGAAGAGAGAAGAGAAGAAAGGAAACGACACTACAGACAGGGTGAATGGGAATGAGGGACAGGCGGGACAGGGAAGCACACCCCAATACCT... | GTCATGGAGAGAACTGGAAGTCTTTTATGTCACAGAGCTCAAGCTACACCTGAAGATTTACTTCACCAAGTGTGTTCATTCCCCCTGTGTATTCCTCAGCACCAGGAGTGGCATCTAACCTCATGACGTTTTCCTGCACCTTTATTGTACTTCCTTGTAGTTCTGAATTGTGGCTGAGAGGCTGTATAAGTCATACTTCTTTATTTCCAGCACACAGCCCCTAATTTCATGAAGAGAGAAGAGAAGAAAGGAAACGACACTACAGACAGGGTGAATGGGAATGAGGGACAGGCGGGACAGGGAAGCACACCCCAATACCT... |
Task1_train_3269 | This variant impacts the gene SRD5A2 (steroid 5 alpha-reductase 2) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | GTCATGGAGAGAACTGGAAGTCTTTTATGTCACAGAGCTCAAGCTACACCTGAAGATTTACTTCACCAAGTGTGTTCATTCCCCCTGTGTATTCCTCAGCACCAGGAGTGGCATCTAACCTCATGACGTTTTCCTGCACCTTTATTGTACTTCCTTGTAGTTCTGAATTGTGGCTGAGAGGCTGTATAAGTCATACTTCTTTATTTCCAGCACACAGCCCCTAATTTCATGAAGAGAGAAGAGAAGAAAGGAAACGACACTACAGACAGGGTGAATGGGAATGAGGGACAGGCGGGACAGGGAAGCACACCCCAATACCT... | GTCATGGAGAGAACTGGAAGTCTTTTATGTCACAGAGCTCAAGCTACACCTGAAGATTTACTTCACCAAGTGTGTTCATTCCCCCTGTGTATTCCTCAGCACCAGGAGTGGCATCTAACCTCATGACGTTTTCCTGCACCTTTATTGTACTTCCTTGTAGTTCTGAATTGTGGCTGAGAGGCTGTATAAGTCATACTTCTTTATTTCCAGCACACAGCCCCTAATTTCATGAAGAGAGAAGAGAAGAAAGGAAACGACACTACAGACAGGGTGAATGGGAATGAGGGACAGGCGGGACAGGGAAGCACACCCCAATACCT... |
Task1_train_3270 | The gene SRD5A2 (steroid 5 alpha-reductase 2) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | GGCGGTCCTCAAGGCATAATCAAGATGACACACTGTATTAAAGTACCTTAGTTTGAATTAGGGGGCAAATAATAAGTTACAAAAGGTGGCTGGTTTTCGGTACTGTGATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCC... | GGCGGTCCTCAAGGCATAATCAAGATGACACACTGTATTAAAGTACCTTAGTTTGAATTAGGGGGCAAATAATAAGTTACAAAAGGTGGCTGGTTTTCGGTACTGTGATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCC... |
Task1_train_3271 | The gene SRD5A2 (steroid 5 alpha-reductase 2) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | CAAGGCATAATCAAGATGACACACTGTATTAAAGTACCTTAGTTTGAATTAGGGGGCAAATAATAAGTTACAAAAGGTGGCTGGTTTTCGGTACTGTGATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCCCCTAACCAA... | CAAGGCATAATCAAGATGACACACTGTATTAAAGTACCTTAGTTTGAATTAGGGGGCAAATAATAAGTTACAAAAGGTGGCTGGTTTTCGGTACTGTGATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCCCCTAACCAA... |
Task1_train_3272 | The variant affects gene SRD5A2 (steroid 5 alpha-reductase 2), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | AAGGCATAATCAAGATGACACACTGTATTAAAGTACCTTAGTTTGAATTAGGGGGCAAATAATAAGTTACAAAAGGTGGCTGGTTTTCGGTACTGTGATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCCCCTAACCAAG... | AAGGCATAATCAAGATGACACACTGTATTAAAGTACCTTAGTTTGAATTAGGGGGCAAATAATAAGTTACAAAAGGTGGCTGGTTTTCGGTACTGTGATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCCCCTAACCAAG... |
Task1_train_3273 | Consider a variant on Chromosome 2 in gene SRD5A2 (steroid 5 alpha-reductase 2). Determine its clinical classification and disease relevance. | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | TTAGGGGGCAAATAATAAGTTACAAAAGGTGGCTGGTTTTCGGTACTGTGATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCCCCTAACCAAGCACAGTAGAGTCCCTCCTTCCCAGGGACCCTCCAAGTGCTGAGTGAT... | TTAGGGGGCAAATAATAAGTTACAAAAGGTGGCTGGTTTTCGGTACTGTGATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCCCCTAACCAAGCACAGTAGAGTCCCTCCTTCCCAGGGACCCTCCAAGTGCTGAGTGAT... |
Task1_train_3274 | Assess the clinical impact of this variant on gene SRD5A2 (steroid 5 alpha-reductase 2), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | TAAGTTACAAAAGGTGGCTGGTTTTCGGTACTGTGATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCCCCTAACCAAGCACAGTAGAGTCCCTCCTTCCCAGGGACCCTCCAAGTGCTGAGTGATGCCTTCTCTTCTCCC... | TAAGTTACAAAAGGTGGCTGGTTTTCGGTACTGTGATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCCCCTAACCAAGCACAGTAGAGTCCCTCCTTCCCAGGGACCCTCCAAGTGCTGAGTGATGCCTTCTCTTCTCCC... |
Task1_train_3275 | A mutation on Chromosome 2 affecting SRD5A2 (steroid 5 alpha-reductase 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | GTGGCTGGTTTTCGGTACTGTGATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCCCCTAACCAAGCACAGTAGAGTCCCTCCTTCCCAGGGACCCTCCAAGTGCTGAGTGATGCCTTCTCTTCTCCCATTCCCGCTCTGC... | GTGGCTGGTTTTCGGTACTGTGATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCCCCTAACCAAGCACAGTAGAGTCCCTCCTTCCCAGGGACCCTCCAAGTGCTGAGTGATGCCTTCTCTTCTCCCATTCCCGCTCTGC... |
Task1_train_3276 | This alteration occurs within gene SRD5A2 (steroid 5 alpha-reductase 2) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | ACTGTGATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCCCCTAACCAAGCACAGTAGAGTCCCTCCTTCCCAGGGACCCTCCAAGTGCTGAGTGATGCCTTCTCTTCTCCCATTCCCGCTCTGCCTCTGGTGGGCAGCAG... | ACTGTGATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCCCCTAACCAAGCACAGTAGAGTCCCTCCTTCCCAGGGACCCTCCAAGTGCTGAGTGATGCCTTCTCTTCTCCCATTCCCGCTCTGCCTCTGGTGGGCAGCAG... |
Task1_train_3277 | The variant affects gene SRD5A2 (steroid 5 alpha-reductase 2), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | TGTGATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCCCCTAACCAAGCACAGTAGAGTCCCTCCTTCCCAGGGACCCTCCAAGTGCTGAGTGATGCCTTCTCTTCTCCCATTCCCGCTCTGCCTCTGGTGGGCAGCAGAC... | TGTGATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCCCCTAACCAAGCACAGTAGAGTCCCTCCTTCCCAGGGACCCTCCAAGTGCTGAGTGATGCCTTCTCTTCTCCCATTCCCGCTCTGCCTCTGGTGGGCAGCAGAC... |
Task1_train_3278 | Mutation context: Chromosome 2, Gene SRD5A2 (steroid 5 alpha-reductase 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | GATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCCCCTAACCAAGCACAGTAGAGTCCCTCCTTCCCAGGGACCCTCCAAGTGCTGAGTGATGCCTTCTCTTCTCCCATTCCCGCTCTGCCTCTGGTGGGCAGCAGACCCA... | GATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCCCCTAACCAAGCACAGTAGAGTCCCTCCTTCCCAGGGACCCTCCAAGTGCTGAGTGATGCCTTCTCTTCTCCCATTCCCGCTCTGCCTCTGGTGGGCAGCAGACCCA... |
Task1_train_3279 | This sequence variant lies in SRD5A2 (steroid 5 alpha-reductase 2) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | CTCGCAGCCCAAGGAAACAAAGTGAGAAAAATGCAAATGCAAGTGCTGGGAGGGACCAAGTGGCCAGGGCATAGCCGATCCATTCAATGATCTCACCGAGGAAATTGGCTCCAGAAACATACGTAAACAAGCCACCTGCGTGCAGAAGAATCGGAAGGTCAATCATTGCAACTGAATCATTTTGACATTAAACCCATCTGTGTTGTTCCAAAATACACAAAGGCAGCAAGAACAAATGTGGGGCTGGAGGCTCCCTCCATAGTCATAGGAGTTTGGTGGAATCCTCTTGGGGAGAAGGGGAAACAAAGCAACAACAGCCT... | CTCGCAGCCCAAGGAAACAAAGTGAGAAAAATGCAAATGCAAGTGCTGGGAGGGACCAAGTGGCCAGGGCATAGCCGATCCATTCAATGATCTCACCGAGGAAATTGGCTCCAGAAACATACGTAAACAAGCCACCTGCGTGCAGAAGAATCGGAAGGTCAATCATTGCAACTGAATCATTTTGACATTAAACCCATCTGTGTTGTTCCAAAATACACAAAGGCAGCAAGAACAAATGTGGGGCTGGAGGCTCCCTCCATAGTCATAGGAGTTTGGTGGAATCCTCTTGGGGAGAAGGGGAAACAAAGCAACAACAGCCT... |
Task1_train_3280 | A variant affecting Chromosome 2, within the gene SRD5A2 (steroid 5 alpha-reductase 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | AGCCCAAGGAAACAAAGTGAGAAAAATGCAAATGCAAGTGCTGGGAGGGACCAAGTGGCCAGGGCATAGCCGATCCATTCAATGATCTCACCGAGGAAATTGGCTCCAGAAACATACGTAAACAAGCCACCTGCGTGCAGAAGAATCGGAAGGTCAATCATTGCAACTGAATCATTTTGACATTAAACCCATCTGTGTTGTTCCAAAATACACAAAGGCAGCAAGAACAAATGTGGGGCTGGAGGCTCCCTCCATAGTCATAGGAGTTTGGTGGAATCCTCTTGGGGAGAAGGGGAAACAAAGCAACAACAGCCTGTTGC... | AGCCCAAGGAAACAAAGTGAGAAAAATGCAAATGCAAGTGCTGGGAGGGACCAAGTGGCCAGGGCATAGCCGATCCATTCAATGATCTCACCGAGGAAATTGGCTCCAGAAACATACGTAAACAAGCCACCTGCGTGCAGAAGAATCGGAAGGTCAATCATTGCAACTGAATCATTTTGACATTAAACCCATCTGTGTTGTTCCAAAATACACAAAGGCAGCAAGAACAAATGTGGGGCTGGAGGCTCCCTCCATAGTCATAGGAGTTTGGTGGAATCCTCTTGGGGAGAAGGGGAAACAAAGCAACAACAGCCTGTTGC... |
Task1_train_3281 | Chromosome 2 houses a mutation in gene SRD5A2 (steroid 5 alpha-reductase 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | AAATGCAAGTGCTGGGAGGGACCAAGTGGCCAGGGCATAGCCGATCCATTCAATGATCTCACCGAGGAAATTGGCTCCAGAAACATACGTAAACAAGCCACCTGCGTGCAGAAGAATCGGAAGGTCAATCATTGCAACTGAATCATTTTGACATTAAACCCATCTGTGTTGTTCCAAAATACACAAAGGCAGCAAGAACAAATGTGGGGCTGGAGGCTCCCTCCATAGTCATAGGAGTTTGGTGGAATCCTCTTGGGGAGAAGGGGAAACAAAGCAACAACAGCCTGTTGCCTGGAGAACATTCTGGAGTTGCGAAGAGT... | AAATGCAAGTGCTGGGAGGGACCAAGTGGCCAGGGCATAGCCGATCCATTCAATGATCTCACCGAGGAAATTGGCTCCAGAAACATACGTAAACAAGCCACCTGCGTGCAGAAGAATCGGAAGGTCAATCATTGCAACTGAATCATTTTGACATTAAACCCATCTGTGTTGTTCCAAAATACACAAAGGCAGCAAGAACAAATGTGGGGCTGGAGGCTCCCTCCATAGTCATAGGAGTTTGGTGGAATCCTCTTGGGGAGAAGGGGAAACAAAGCAACAACAGCCTGTTGCCTGGAGAACATTCTGGAGTTGCGAAGAGT... |
Task1_train_3282 | A variant affecting Chromosome 2, within the gene SRD5A2 (steroid 5 alpha-reductase 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | GCCAGGGCATAGCCGATCCATTCAATGATCTCACCGAGGAAATTGGCTCCAGAAACATACGTAAACAAGCCACCTGCGTGCAGAAGAATCGGAAGGTCAATCATTGCAACTGAATCATTTTGACATTAAACCCATCTGTGTTGTTCCAAAATACACAAAGGCAGCAAGAACAAATGTGGGGCTGGAGGCTCCCTCCATAGTCATAGGAGTTTGGTGGAATCCTCTTGGGGAGAAGGGGAAACAAAGCAACAACAGCCTGTTGCCTGGAGAACATTCTGGAGTTGCGAAGAGTGGCCTCAACTGCTTAACGGGCTCTATCC... | GCCAGGGCATAGCCGATCCATTCAATGATCTCACCGAGGAAATTGGCTCCAGAAACATACGTAAACAAGCCACCTGCGTGCAGAAGAATCGGAAGGTCAATCATTGCAACTGAATCATTTTGACATTAAACCCATCTGTGTTGTTCCAAAATACACAAAGGCAGCAAGAACAAATGTGGGGCTGGAGGCTCCCTCCATAGTCATAGGAGTTTGGTGGAATCCTCTTGGGGAGAAGGGGAAACAAAGCAACAACAGCCTGTTGCCTGGAGAACATTCTGGAGTTGCGAAGAGTGGCCTCAACTGCTTAACGGGCTCTATCC... |
Task1_train_3283 | Located on Chromosome 2, this mutation impacts SRD5A2 (steroid 5 alpha-reductase 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | TGAGTCCTGGTCCTGAATGGGGAGCACTGGGTGTGCTGTTTCCTAGACTTGGGCTGAAAGTACACAGTGGCACCACTGATGGAGACAGATTAGAAAAGAGAGGAGAGCAGGAGGTAGCACCATTGTCCAGTATTTAAATAGATAAACAAACAAATGCATGGATCATAATAGTAAGCCTTTAGCTCATTCACAAACAGTCAAATCGAGGTTTCATATCTCAACAGCTGATTCCAGCCCCTTTTCTTTTGCCATCCCCCACTACAGAGGTTGCACTGAGAAAGGGGGTCACATGAGCTAGTTCCACCAATAAGATGTAAAGT... | TGAGTCCTGGTCCTGAATGGGGAGCACTGGGTGTGCTGTTTCCTAGACTTGGGCTGAAAGTACACAGTGGCACCACTGATGGAGACAGATTAGAAAAGAGAGGAGAGCAGGAGGTAGCACCATTGTCCAGTATTTAAATAGATAAACAAACAAATGCATGGATCATAATAGTAAGCCTTTAGCTCATTCACAAACAGTCAAATCGAGGTTTCATATCTCAACAGCTGATTCCAGCCCCTTTTCTTTTGCCATCCCCCACTACAGAGGTTGCACTGAGAAAGGGGGTCACATGAGCTAGTTCCACCAATAAGATGTAAAGT... |
Task1_train_3284 | This is a variant in SRD5A2 (steroid 5 alpha-reductase 2), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; not specified | GGCTTCAAAGAAAGAATTCAAAAAAGAGGAAAGACAAACATCAGATCCCGATGCCTCAGGAACAAGTAGCTCAAGAGTTGTACTTCCAGTGGGCAATTTTCCCTCAGGCAGAATGAATCTCCAAGTCCTTTACTAATATTTTAAAATTTCCTCTGAAGAAGGACAATATGTAGATATTTGTTTTATGCATAATTACTCCTTTGGGTTTTTTTTTAAATGCACCGGTCATAATGTATTGTGCAAAGTGCCTTTTGATTTCAAAAACAAGCCTAAAGATTACATTAATATGATTGTCACAAAACACTAATCATTAAGATGAA... | GGCTTCAAAGAAAGAATTCAAAAAAGAGGAAAGACAAACATCAGATCCCGATGCCTCAGGAACAAGTAGCTCAAGAGTTGTACTTCCAGTGGGCAATTTTCCCTCAGGCAGAATGAATCTCCAAGTCCTTTACTAATATTTTAAAATTTCCTCTGAAGAAGGACAATATGTAGATATTTGTTTTATGCATAATTACTCCTTTGGGTTTTTTTTTAAATGCACCGGTCATAATGTATTGTGCAAAGTGCCTTTTGATTTCAAAAACAAGCCTAAAGATTACATTAATATGATTGTCACAAAACACTAATCATTAAGATGAA... |
Task1_train_3285 | Located on Chromosome 2, this mutation impacts SRD5A2 (steroid 5 alpha-reductase 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | TAGCTCAAGAGTTGTACTTCCAGTGGGCAATTTTCCCTCAGGCAGAATGAATCTCCAAGTCCTTTACTAATATTTTAAAATTTCCTCTGAAGAAGGACAATATGTAGATATTTGTTTTATGCATAATTACTCCTTTGGGTTTTTTTTTAAATGCACCGGTCATAATGTATTGTGCAAAGTGCCTTTTGATTTCAAAAACAAGCCTAAAGATTACATTAATATGATTGTCACAAAACACTAATCATTAAGATGAAATGACCTCATAAAAATATTGCTTATGTTGCCAACATACAGTAGTTAATTTGAAGATAAAAATAATT... | TAGCTCAAGAGTTGTACTTCCAGTGGGCAATTTTCCCTCAGGCAGAATGAATCTCCAAGTCCTTTACTAATATTTTAAAATTTCCTCTGAAGAAGGACAATATGTAGATATTTGTTTTATGCATAATTACTCCTTTGGGTTTTTTTTTAAATGCACCGGTCATAATGTATTGTGCAAAGTGCCTTTTGATTTCAAAAACAAGCCTAAAGATTACATTAATATGATTGTCACAAAACACTAATCATTAAGATGAAATGACCTCATAAAAATATTGCTTATGTTGCCAACATACAGTAGTTAATTTGAAGATAAAAATAATT... |
Task1_train_3286 | This sequence variant lies in SRD5A2 (steroid 5 alpha-reductase 2) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | CTCAGGCAGAATGAATCTCCAAGTCCTTTACTAATATTTTAAAATTTCCTCTGAAGAAGGACAATATGTAGATATTTGTTTTATGCATAATTACTCCTTTGGGTTTTTTTTTAAATGCACCGGTCATAATGTATTGTGCAAAGTGCCTTTTGATTTCAAAAACAAGCCTAAAGATTACATTAATATGATTGTCACAAAACACTAATCATTAAGATGAAATGACCTCATAAAAATATTGCTTATGTTGCCAACATACAGTAGTTAATTTGAAGATAAAAATAATTGTTGACAAAAATCACATTTCTGTCAAATGTCTGTTC... | CTCAGGCAGAATGAATCTCCAAGTCCTTTACTAATATTTTAAAATTTCCTCTGAAGAAGGACAATATGTAGATATTTGTTTTATGCATAATTACTCCTTTGGGTTTTTTTTTAAATGCACCGGTCATAATGTATTGTGCAAAGTGCCTTTTGATTTCAAAAACAAGCCTAAAGATTACATTAATATGATTGTCACAAAACACTAATCATTAAGATGAAATGACCTCATAAAAATATTGCTTATGTTGCCAACATACAGTAGTTAATTTGAAGATAAAAATAATTGTTGACAAAAATCACATTTCTGTCAAATGTCTGTTC... |
Task1_train_3287 | A variant found in Chromosome 2 affects SRD5A2 (steroid 5 alpha-reductase 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | AGATATTTGTTTTATGCATAATTACTCCTTTGGGTTTTTTTTTAAATGCACCGGTCATAATGTATTGTGCAAAGTGCCTTTTGATTTCAAAAACAAGCCTAAAGATTACATTAATATGATTGTCACAAAACACTAATCATTAAGATGAAATGACCTCATAAAAATATTGCTTATGTTGCCAACATACAGTAGTTAATTTGAAGATAAAAATAATTGTTGACAAAAATCACATTTCTGTCAAATGTCTGTTCAAAAATCAGTGAAATAAAAAACTAATCTCTTATCTCCTGTATCCAACATCCTTCTTTCTGTGCAAATTA... | AGATATTTGTTTTATGCATAATTACTCCTTTGGGTTTTTTTTTAAATGCACCGGTCATAATGTATTGTGCAAAGTGCCTTTTGATTTCAAAAACAAGCCTAAAGATTACATTAATATGATTGTCACAAAACACTAATCATTAAGATGAAATGACCTCATAAAAATATTGCTTATGTTGCCAACATACAGTAGTTAATTTGAAGATAAAAATAATTGTTGACAAAAATCACATTTCTGTCAAATGTCTGTTCAAAAATCAGTGAAATAAAAAACTAATCTCTTATCTCCTGTATCCAACATCCTTCTTTCTGTGCAAATTA... |
Task1_train_3288 | A variant has been detected on Chromosome 2 in SRD5A2 (steroid 5 alpha-reductase 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | AGATATTTGTTTTATGCATAATTACTCCTTTGGGTTTTTTTTTAAATGCACCGGTCATAATGTATTGTGCAAAGTGCCTTTTGATTTCAAAAACAAGCCTAAAGATTACATTAATATGATTGTCACAAAACACTAATCATTAAGATGAAATGACCTCATAAAAATATTGCTTATGTTGCCAACATACAGTAGTTAATTTGAAGATAAAAATAATTGTTGACAAAAATCACATTTCTGTCAAATGTCTGTTCAAAAATCAGTGAAATAAAAAACTAATCTCTTATCTCCTGTATCCAACATCCTTCTTTCTGTGCAAATTA... | AGATATTTGTTTTATGCATAATTACTCCTTTGGGTTTTTTTTTAAATGCACCGGTCATAATGTATTGTGCAAAGTGCCTTTTGATTTCAAAAACAAGCCTAAAGATTACATTAATATGATTGTCACAAAACACTAATCATTAAGATGAAATGACCTCATAAAAATATTGCTTATGTTGCCAACATACAGTAGTTAATTTGAAGATAAAAATAATTGTTGACAAAAATCACATTTCTGTCAAATGTCTGTTCAAAAATCAGTGAAATAAAAAACTAATCTCTTATCTCCTGTATCCAACATCCTTCTTTCTGTGCAAATTA... |
Task1_train_3289 | Here is a mutation in SRD5A2 (steroid 5 alpha-reductase 2) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | TTAAATGCACCGGTCATAATGTATTGTGCAAAGTGCCTTTTGATTTCAAAAACAAGCCTAAAGATTACATTAATATGATTGTCACAAAACACTAATCATTAAGATGAAATGACCTCATAAAAATATTGCTTATGTTGCCAACATACAGTAGTTAATTTGAAGATAAAAATAATTGTTGACAAAAATCACATTTCTGTCAAATGTCTGTTCAAAAATCAGTGAAATAAAAAACTAATCTCTTATCTCCTGTATCCAACATCCTTCTTTCTGTGCAAATTAAACCATCTAAATCTGAGTAAAATAAAATCTGTGTAAAATAA... | TTAAATGCACCGGTCATAATGTATTGTGCAAAGTGCCTTTTGATTTCAAAAACAAGCCTAAAGATTACATTAATATGATTGTCACAAAACACTAATCATTAAGATGAAATGACCTCATAAAAATATTGCTTATGTTGCCAACATACAGTAGTTAATTTGAAGATAAAAATAATTGTTGACAAAAATCACATTTCTGTCAAATGTCTGTTCAAAAATCAGTGAAATAAAAAACTAATCTCTTATCTCCTGTATCCAACATCCTTCTTTCTGTGCAAATTAAACCATCTAAATCTGAGTAAAATAAAATCTGTGTAAAATAA... |
Task1_train_3290 | Consider this mutation in SRD5A2 (steroid 5 alpha-reductase 2) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | CTAAAGATTACATTAATATGATTGTCACAAAACACTAATCATTAAGATGAAATGACCTCATAAAAATATTGCTTATGTTGCCAACATACAGTAGTTAATTTGAAGATAAAAATAATTGTTGACAAAAATCACATTTCTGTCAAATGTCTGTTCAAAAATCAGTGAAATAAAAAACTAATCTCTTATCTCCTGTATCCAACATCCTTCTTTCTGTGCAAATTAAACCATCTAAATCTGAGTAAAATAAAATCTGTGTAAAATAAAGAATCTTGTTCACAGCAGGCTTTTAGTAAATATTTGTTGAAAGGATACAGTTTAGT... | CTAAAGATTACATTAATATGATTGTCACAAAACACTAATCATTAAGATGAAATGACCTCATAAAAATATTGCTTATGTTGCCAACATACAGTAGTTAATTTGAAGATAAAAATAATTGTTGACAAAAATCACATTTCTGTCAAATGTCTGTTCAAAAATCAGTGAAATAAAAAACTAATCTCTTATCTCCTGTATCCAACATCCTTCTTTCTGTGCAAATTAAACCATCTAAATCTGAGTAAAATAAAATCTGTGTAAAATAAAGAATCTTGTTCACAGCAGGCTTTTAGTAAATATTTGTTGAAAGGATACAGTTTAGT... |
Task1_train_3291 | This sequence change occurs on Chromosome 2, altering SPAST (spastin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary spastic paraplegia 4 | TTTAGTTTTCTTAAACCGTATTAAGAGATTTGATTACAAAAGTAAAATTGAGGCTTTTGTCTTTTTTTTTGGCCACTCTAATTTGCTGACTGACTTAACATTTGTCTTCACAGTAAACATTGTAAATAAACACTGATGTTTGTTGCGTAGTATGTAAAAATATTATTTAGGAGTGGTGAGATTTAAACATTTACAAACCTGTAATATATATAGTACAGCAACACTGGACAAATAACCTTTTCAACTTAATCAGAGGTGTTCTATAAATGTTCATTTGCATATATACAGCCCATATAATACTTAGCATATGTAAAAGCACA... | TTTAGTTTTCTTAAACCGTATTAAGAGATTTGATTACAAAAGTAAAATTGAGGCTTTTGTCTTTTTTTTTGGCCACTCTAATTTGCTGACTGACTTAACATTTGTCTTCACAGTAAACATTGTAAATAAACACTGATGTTTGTTGCGTAGTATGTAAAAATATTATTTAGGAGTGGTGAGATTTAAACATTTACAAACCTGTAATATATATAGTACAGCAACACTGGACAAATAACCTTTTCAACTTAATCAGAGGTGTTCTATAAATGTTCATTTGCATATATACAGCCCATATAATACTTAGCATATGTAAAAGCACA... |
Task1_train_3292 | The gene SPAST (spastin) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hereditary spastic paraplegia 4 | TGTATTTTTAGCAGAGACGAGGTTTCACCATGTTGGCCAGCCTGGTCTTGAACTACTGACATCAGGTGATCCGTCCACCTCGATCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGCCCGGCGCTTCATAACCTTTTTATATTGTCTTTCTGTTCCCCAAAATGAAGTAGTTTCTTCTTAAAAATACTGTTTTTTGTTTTTTTGTTTTTTTTTTTATTTGAGATGGAATCTCTCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTTCAACCTCTGACTCCGTGGTTCAAGCAATTCTCCTGC... | TGTATTTTTAGCAGAGACGAGGTTTCACCATGTTGGCCAGCCTGGTCTTGAACTACTGACATCAGGTGATCCGTCCACCTCGATCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGCCCGGCGCTTCATAACCTTTTTATATTGTCTTTCTGTTCCCCAAAATGAAGTAGTTTCTTCTTAAAAATACTGTTTTTTGTTTTTTTGTTTTTTTTTTTATTTGAGATGGAATCTCTCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTTCAACCTCTGACTCCGTGGTTCAAGCAATTCTCCTGC... |
Task1_train_3293 | Consider this mutation in SPAST (spastin) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Hereditary spastic paraplegia 4 | CATGTTGGCCAGCCTGGTCTTGAACTACTGACATCAGGTGATCCGTCCACCTCGATCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGCCCGGCGCTTCATAACCTTTTTATATTGTCTTTCTGTTCCCCAAAATGAAGTAGTTTCTTCTTAAAAATACTGTTTTTTGTTTTTTTGTTTTTTTTTTTATTTGAGATGGAATCTCTCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTTCAACCTCTGACTCCGTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACA... | CATGTTGGCCAGCCTGGTCTTGAACTACTGACATCAGGTGATCCGTCCACCTCGATCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGCCCGGCGCTTCATAACCTTTTTATATTGTCTTTCTGTTCCCCAAAATGAAGTAGTTTCTTCTTAAAAATACTGTTTTTTGTTTTTTTGTTTTTTTTTTTATTTGAGATGGAATCTCTCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTTCAACCTCTGACTCCGTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACA... |
Task1_train_3294 | This is a variant in SPAST (spastin), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary spastic paraplegia 4 | TGTTTTTAATAAGAAAATTAGAATAGGGACAGGCACAATGGCTCACTCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGCCTAGGCAACATAGTGAGTGAGACCCTGTTTCTATAAAAAAAATTTTTAATTAGTCCGGTCTGGTGGTGCACAACTGATGTCCCAGCTACTTGGGAGTTTGAGGTGGGAGGATGGATCACTTGAGCCCAGGAAGATTAAGGCCACAATGAGCTGTGATCATGCCACTGCACTCCAGCCCAGGCCACAGGTTTCAAAAAAAGAGAAA... | TGTTTTTAATAAGAAAATTAGAATAGGGACAGGCACAATGGCTCACTCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGCCTAGGCAACATAGTGAGTGAGACCCTGTTTCTATAAAAAAAATTTTTAATTAGTCCGGTCTGGTGGTGCACAACTGATGTCCCAGCTACTTGGGAGTTTGAGGTGGGAGGATGGATCACTTGAGCCCAGGAAGATTAAGGCCACAATGAGCTGTGATCATGCCACTGCACTCCAGCCCAGGCCACAGGTTTCAAAAAAAGAGAAA... |
Task1_train_3295 | This variant lies on Chromosome 2 and affects the gene SPAST (spastin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hereditary spastic paraplegia 4 | ATTAGAATAGGGACAGGCACAATGGCTCACTCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGCCTAGGCAACATAGTGAGTGAGACCCTGTTTCTATAAAAAAAATTTTTAATTAGTCCGGTCTGGTGGTGCACAACTGATGTCCCAGCTACTTGGGAGTTTGAGGTGGGAGGATGGATCACTTGAGCCCAGGAAGATTAAGGCCACAATGAGCTGTGATCATGCCACTGCACTCCAGCCCAGGCCACAGGTTTCAAAAAAAGAGAAAATTAGAATTATACGTT... | ATTAGAATAGGGACAGGCACAATGGCTCACTCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGCCTAGGCAACATAGTGAGTGAGACCCTGTTTCTATAAAAAAAATTTTTAATTAGTCCGGTCTGGTGGTGCACAACTGATGTCCCAGCTACTTGGGAGTTTGAGGTGGGAGGATGGATCACTTGAGCCCAGGAAGATTAAGGCCACAATGAGCTGTGATCATGCCACTGCACTCCAGCCCAGGCCACAGGTTTCAAAAAAAGAGAAAATTAGAATTATACGTT... |
Task1_train_3296 | Assess the clinical impact of this variant on gene SPAST (spastin), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 4 | AATGGCTCACTCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGCCTAGGCAACATAGTGAGTGAGACCCTGTTTCTATAAAAAAAATTTTTAATTAGTCCGGTCTGGTGGTGCACAACTGATGTCCCAGCTACTTGGGAGTTTGAGGTGGGAGGATGGATCACTTGAGCCCAGGAAGATTAAGGCCACAATGAGCTGTGATCATGCCACTGCACTCCAGCCCAGGCCACAGGTTTCAAAAAAAGAGAAAATTAGAATTATACGTTAGGGGGAAAAAACCTAATAA... | AATGGCTCACTCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGCCTAGGCAACATAGTGAGTGAGACCCTGTTTCTATAAAAAAAATTTTTAATTAGTCCGGTCTGGTGGTGCACAACTGATGTCCCAGCTACTTGGGAGTTTGAGGTGGGAGGATGGATCACTTGAGCCCAGGAAGATTAAGGCCACAATGAGCTGTGATCATGCCACTGCACTCCAGCCCAGGCCACAGGTTTCAAAAAAAGAGAAAATTAGAATTATACGTTAGGGGGAAAAAACCTAATAA... |
Task1_train_3297 | A mutation on Chromosome 2 affecting SPAST (spastin) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary spastic paraplegia 4 | GTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGCCTAGGCAACATAGTGAGTGAGACCCTGTTTCTATAAAAAAAATTTTTAATTAGTCCGGTCTGGTGGTGCACAACTGATGTCCCAGCTACTTGGGAGTTTGAGGTGGGAGGATGGATCACTTGAGCCCAGGAAGATTAAGGCCACAATGAGCTGTGATCATGCCACTGCACTCCAGCCCAGGCCACAGGTTTCAAAAAAAGAGAAAATTAGAATTATACGTTAGGGGGAAAAAACCTAATAACCATATTCCTATCT... | GTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGCCTAGGCAACATAGTGAGTGAGACCCTGTTTCTATAAAAAAAATTTTTAATTAGTCCGGTCTGGTGGTGCACAACTGATGTCCCAGCTACTTGGGAGTTTGAGGTGGGAGGATGGATCACTTGAGCCCAGGAAGATTAAGGCCACAATGAGCTGTGATCATGCCACTGCACTCCAGCCCAGGCCACAGGTTTCAAAAAAAGAGAAAATTAGAATTATACGTTAGGGGGAAAAAACCTAATAACCATATTCCTATCT... |
Task1_train_3298 | This variant impacts the gene SPAST (spastin) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | TAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGCCTAGGCAACATAGTGAGTGAGACCCTGTTTCTATAAAAAAAATTTTTAATTAGTCCGGTCTGGTGGTGCACAACTGATGTCCCAGCTACTTGGGAGTTTGAGGTGGGAGGATGGATCACTTGAGCCCAGGAAGATTAAGGCCACAATGAGCTGTGATCATGCCACTGCACTCCAGCCCAGGCCACAGGTTTCAAAAAAAGAGAAAATTAGAATTATACGTTAGGGGGAAAAAACCTAATAACCATATTCCTATCTA... | TAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGCCTAGGCAACATAGTGAGTGAGACCCTGTTTCTATAAAAAAAATTTTTAATTAGTCCGGTCTGGTGGTGCACAACTGATGTCCCAGCTACTTGGGAGTTTGAGGTGGGAGGATGGATCACTTGAGCCCAGGAAGATTAAGGCCACAATGAGCTGTGATCATGCCACTGCACTCCAGCCCAGGCCACAGGTTTCAAAAAAAGAGAAAATTAGAATTATACGTTAGGGGGAAAAAACCTAATAACCATATTCCTATCTA... |
Task1_train_3299 | This sequence change occurs on Chromosome 2, altering SPAST (spastin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary spastic paraplegia 4 | TCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGCCTAGGCAACATAGTGAGTGAGACCCTGTTTCTATAAAAAAAATTTTTAATTAGTCCGGTCTGGTGGTGCACAACTGATGTCCCAGCTACTTGGGAGTTTGAGGTGGGAGGATGGATCACTTGAGCCCAGGAAGATTAAGGCCACAATGAGCTGTGATCATGCCACTGCACTCCAGCCCAGGCCACAGGTTTCAAAAAAAGAGAAAATTAGAATTATACGTTAGGGGGAAAAAACCTAATAACCATATTCCTATCTACCT... | TCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGCCTAGGCAACATAGTGAGTGAGACCCTGTTTCTATAAAAAAAATTTTTAATTAGTCCGGTCTGGTGGTGCACAACTGATGTCCCAGCTACTTGGGAGTTTGAGGTGGGAGGATGGATCACTTGAGCCCAGGAAGATTAAGGCCACAATGAGCTGTGATCATGCCACTGCACTCCAGCCCAGGCCACAGGTTTCAAAAAAAGAGAAAATTAGAATTATACGTTAGGGGGAAAAAACCTAATAACCATATTCCTATCTACCT... |
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