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_29100 | A variant on Chromosome X in gene CDKL5 (cyclin dependent kinase like 5) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Developmental and epileptic encephalopathy, 2 | GAGAAAAACTGCAAAAATAGTGCAAAGAATTTCCTACTTCCTATACCCTTGACCTAGATTTTCCAAGTGTGTTAATATTTTATCATATTTGCTTTATCATTCTTTCTGTCTTTTTTCTCTTCCCTCATACACACATATAATTTTTCTCAGTGGTTTAAGTTGTAAACATGATGCCCCTTTAAAAACTTTAGTGCTGTTTCTTAAAAATGAGAGCATTGTTTTATATAACCGAAGTACTAATATGAAAATTAGAAAACTACTGACAACAGTACTATAATCTGTGAACATTTGAATTGTATCAATTGTTCTTCATAGCGAAA... | GAGAAAAACTGCAAAAATAGTGCAAAGAATTTCCTACTTCCTATACCCTTGACCTAGATTTTCCAAGTGTGTTAATATTTTATCATATTTGCTTTATCATTCTTTCTGTCTTTTTTCTCTTCCCTCATACACACATATAATTTTTCTCAGTGGTTTAAGTTGTAAACATGATGCCCCTTTAAAAACTTTAGTGCTGTTTCTTAAAAATGAGAGCATTGTTTTATATAACCGAAGTACTAATATGAAAATTAGAAAACTACTGACAACAGTACTATAATCTGTGAACATTTGAATTGTATCAATTGTTCTTCATAGCGAAA... |
Task1_train_29101 | Given a variant located on Chromosome X and affecting CDKL5 (cyclin dependent kinase like 5), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Angelman syndrome-like | GAGAAAAACTGCAAAAATAGTGCAAAGAATTTCCTACTTCCTATACCCTTGACCTAGATTTTCCAAGTGTGTTAATATTTTATCATATTTGCTTTATCATTCTTTCTGTCTTTTTTCTCTTCCCTCATACACACATATAATTTTTCTCAGTGGTTTAAGTTGTAAACATGATGCCCCTTTAAAAACTTTAGTGCTGTTTCTTAAAAATGAGAGCATTGTTTTATATAACCGAAGTACTAATATGAAAATTAGAAAACTACTGACAACAGTACTATAATCTGTGAACATTTGAATTGTATCAATTGTTCTTCATAGCGAAA... | GAGAAAAACTGCAAAAATAGTGCAAAGAATTTCCTACTTCCTATACCCTTGACCTAGATTTTCCAAGTGTGTTAATATTTTATCATATTTGCTTTATCATTCTTTCTGTCTTTTTTCTCTTCCCTCATACACACATATAATTTTTCTCAGTGGTTTAAGTTGTAAACATGATGCCCCTTTAAAAACTTTAGTGCTGTTTCTTAAAAATGAGAGCATTGTTTTATATAACCGAAGTACTAATATGAAAATTAGAAAACTACTGACAACAGTACTATAATCTGTGAACATTTGAATTGTATCAATTGTTCTTCATAGCGAAA... |
Task1_train_29102 | A variant found in Chromosome X affects CDKL5 (cyclin dependent kinase like 5). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Developmental and epileptic encephalopathy, 2 | AAACTGCAAAAATAGTGCAAAGAATTTCCTACTTCCTATACCCTTGACCTAGATTTTCCAAGTGTGTTAATATTTTATCATATTTGCTTTATCATTCTTTCTGTCTTTTTTCTCTTCCCTCATACACACATATAATTTTTCTCAGTGGTTTAAGTTGTAAACATGATGCCCCTTTAAAAACTTTAGTGCTGTTTCTTAAAAATGAGAGCATTGTTTTATATAACCGAAGTACTAATATGAAAATTAGAAAACTACTGACAACAGTACTATAATCTGTGAACATTTGAATTGTATCAATTGTTCTTCATAGCGAAAAAAGA... | AAACTGCAAAAATAGTGCAAAGAATTTCCTACTTCCTATACCCTTGACCTAGATTTTCCAAGTGTGTTAATATTTTATCATATTTGCTTTATCATTCTTTCTGTCTTTTTTCTCTTCCCTCATACACACATATAATTTTTCTCAGTGGTTTAAGTTGTAAACATGATGCCCCTTTAAAAACTTTAGTGCTGTTTCTTAAAAATGAGAGCATTGTTTTATATAACCGAAGTACTAATATGAAAATTAGAAAACTACTGACAACAGTACTATAATCTGTGAACATTTGAATTGTATCAATTGTTCTTCATAGCGAAAAAAGA... |
Task1_train_29103 | With a mutation on Chromosome X in gene CDKL5 (cyclin dependent kinase like 5), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Angelman syndrome-like | AAACTGCAAAAATAGTGCAAAGAATTTCCTACTTCCTATACCCTTGACCTAGATTTTCCAAGTGTGTTAATATTTTATCATATTTGCTTTATCATTCTTTCTGTCTTTTTTCTCTTCCCTCATACACACATATAATTTTTCTCAGTGGTTTAAGTTGTAAACATGATGCCCCTTTAAAAACTTTAGTGCTGTTTCTTAAAAATGAGAGCATTGTTTTATATAACCGAAGTACTAATATGAAAATTAGAAAACTACTGACAACAGTACTATAATCTGTGAACATTTGAATTGTATCAATTGTTCTTCATAGCGAAAAAAGA... | AAACTGCAAAAATAGTGCAAAGAATTTCCTACTTCCTATACCCTTGACCTAGATTTTCCAAGTGTGTTAATATTTTATCATATTTGCTTTATCATTCTTTCTGTCTTTTTTCTCTTCCCTCATACACACATATAATTTTTCTCAGTGGTTTAAGTTGTAAACATGATGCCCCTTTAAAAACTTTAGTGCTGTTTCTTAAAAATGAGAGCATTGTTTTATATAACCGAAGTACTAATATGAAAATTAGAAAACTACTGACAACAGTACTATAATCTGTGAACATTTGAATTGTATCAATTGTTCTTCATAGCGAAAAAAGA... |
Task1_train_29104 | A variant on Chromosome X in gene CDKL5 (cyclin dependent kinase like 5) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; CDKL5 disorder | AAACTGCAAAAATAGTGCAAAGAATTTCCTACTTCCTATACCCTTGACCTAGATTTTCCAAGTGTGTTAATATTTTATCATATTTGCTTTATCATTCTTTCTGTCTTTTTTCTCTTCCCTCATACACACATATAATTTTTCTCAGTGGTTTAAGTTGTAAACATGATGCCCCTTTAAAAACTTTAGTGCTGTTTCTTAAAAATGAGAGCATTGTTTTATATAACCGAAGTACTAATATGAAAATTAGAAAACTACTGACAACAGTACTATAATCTGTGAACATTTGAATTGTATCAATTGTTCTTCATAGCGAAAAAAGA... | AAACTGCAAAAATAGTGCAAAGAATTTCCTACTTCCTATACCCTTGACCTAGATTTTCCAAGTGTGTTAATATTTTATCATATTTGCTTTATCATTCTTTCTGTCTTTTTTCTCTTCCCTCATACACACATATAATTTTTCTCAGTGGTTTAAGTTGTAAACATGATGCCCCTTTAAAAACTTTAGTGCTGTTTCTTAAAAATGAGAGCATTGTTTTATATAACCGAAGTACTAATATGAAAATTAGAAAACTACTGACAACAGTACTATAATCTGTGAACATTTGAATTGTATCAATTGTTCTTCATAGCGAAAAAAGA... |
Task1_train_29105 | This is a variant in CDKL5 (cyclin dependent kinase like 5), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; CDKL5 disorder | AACTGCAAAAATAGTGCAAAGAATTTCCTACTTCCTATACCCTTGACCTAGATTTTCCAAGTGTGTTAATATTTTATCATATTTGCTTTATCATTCTTTCTGTCTTTTTTCTCTTCCCTCATACACACATATAATTTTTCTCAGTGGTTTAAGTTGTAAACATGATGCCCCTTTAAAAACTTTAGTGCTGTTTCTTAAAAATGAGAGCATTGTTTTATATAACCGAAGTACTAATATGAAAATTAGAAAACTACTGACAACAGTACTATAATCTGTGAACATTTGAATTGTATCAATTGTTCTTCATAGCGAAAAAAGAA... | AACTGCAAAAATAGTGCAAAGAATTTCCTACTTCCTATACCCTTGACCTAGATTTTCCAAGTGTGTTAATATTTTATCATATTTGCTTTATCATTCTTTCTGTCTTTTTTCTCTTCCCTCATACACACATATAATTTTTCTCAGTGGTTTAAGTTGTAAACATGATGCCCCTTTAAAAACTTTAGTGCTGTTTCTTAAAAATGAGAGCATTGTTTTATATAACCGAAGTACTAATATGAAAATTAGAAAACTACTGACAACAGTACTATAATCTGTGAACATTTGAATTGTATCAATTGTTCTTCATAGCGAAAAAAGAA... |
Task1_train_29106 | A variant has been detected on Chromosome X in CDKL5 (cyclin dependent kinase like 5). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | CTAGGATATACATATAAAGTATATAACAATCTGTCACCAGGAACGGTGACTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGTGGATCACAAGGTCAAGAGATCCAGACCATCTTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGTGGAGGTTGCAGTGAGTGAGCTTGTGCCACTGCACTCCAGCCTGATGAGAGAGCGAGACTGTCTCAAAACACACAC... | CTAGGATATACATATAAAGTATATAACAATCTGTCACCAGGAACGGTGACTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGTGGATCACAAGGTCAAGAGATCCAGACCATCTTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGTGGAGGTTGCAGTGAGTGAGCTTGTGCCACTGCACTCCAGCCTGATGAGAGAGCGAGACTGTCTCAAAACACACAC... |
Task1_train_29107 | The gene CDKL5 (cyclin dependent kinase like 5), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; CDKL5 disorder | GTATATAACAATCTGTCACCAGGAACGGTGACTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGTGGATCACAAGGTCAAGAGATCCAGACCATCTTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGTGGAGGTTGCAGTGAGTGAGCTTGTGCCACTGCACTCCAGCCTGATGAGAGAGCGAGACTGTCTCAAAACACACACACACACACACACACACAC... | GTATATAACAATCTGTCACCAGGAACGGTGACTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGTGGATCACAAGGTCAAGAGATCCAGACCATCTTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGTGGAGGTTGCAGTGAGTGAGCTTGTGCCACTGCACTCCAGCCTGATGAGAGAGCGAGACTGTCTCAAAACACACACACACACACACACACACAC... |
Task1_train_29108 | Given this context: Chromosome X, gene CDKL5 (cyclin dependent kinase like 5) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; CDKL5 disorder | CAACATACAATAAGATGTCCAATATTACTACTACCATTTGAGAAAAATTTACTGGAAGAAAATATACCAAAATATTAACAAGGGTTAATTTTGTAAATGTCTTCTCTATATCCTTTTTGTACCCTTTGTATTCTTTTTGTGTTTTCTGTAATGAGTTTATATTATTTTTATAAGCAGTTTGAATACATGTGAAATGTTAAATTCTTTCCAGTATCTTCTCTTAATTGCATGTGTTTTTCACTAAACACTGAATTGGTTTAATGTAGAAAACTTCATCTGTTCGATTTCATTCTTTAAGTAAATACATAAACCATATCGGG... | CAACATACAATAAGATGTCCAATATTACTACTACCATTTGAGAAAAATTTACTGGAAGAAAATATACCAAAATATTAACAAGGGTTAATTTTGTAAATGTCTTCTCTATATCCTTTTTGTACCCTTTGTATTCTTTTTGTGTTTTCTGTAATGAGTTTATATTATTTTTATAAGCAGTTTGAATACATGTGAAATGTTAAATTCTTTCCAGTATCTTCTCTTAATTGCATGTGTTTTTCACTAAACACTGAATTGGTTTAATGTAGAAAACTTCATCTGTTCGATTTCATTCTTTAAGTAAATACATAAACCATATCGGG... |
Task1_train_29109 | An alteration has been detected in CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Developmental and epileptic encephalopathy, 2 | ACAATAAGATGTCCAATATTACTACTACCATTTGAGAAAAATTTACTGGAAGAAAATATACCAAAATATTAACAAGGGTTAATTTTGTAAATGTCTTCTCTATATCCTTTTTGTACCCTTTGTATTCTTTTTGTGTTTTCTGTAATGAGTTTATATTATTTTTATAAGCAGTTTGAATACATGTGAAATGTTAAATTCTTTCCAGTATCTTCTCTTAATTGCATGTGTTTTTCACTAAACACTGAATTGGTTTAATGTAGAAAACTTCATCTGTTCGATTTCATTCTTTAAGTAAATACATAAACCATATCGGGGGAGGC... | ACAATAAGATGTCCAATATTACTACTACCATTTGAGAAAAATTTACTGGAAGAAAATATACCAAAATATTAACAAGGGTTAATTTTGTAAATGTCTTCTCTATATCCTTTTTGTACCCTTTGTATTCTTTTTGTGTTTTCTGTAATGAGTTTATATTATTTTTATAAGCAGTTTGAATACATGTGAAATGTTAAATTCTTTCCAGTATCTTCTCTTAATTGCATGTGTTTTTCACTAAACACTGAATTGGTTTAATGTAGAAAACTTCATCTGTTCGATTTCATTCTTTAAGTAAATACATAAACCATATCGGGGGAGGC... |
Task1_train_29110 | Given this context: Chromosome X, gene CDKL5 (cyclin dependent kinase like 5) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; CDKL5 disorder | ACAATAAGATGTCCAATATTACTACTACCATTTGAGAAAAATTTACTGGAAGAAAATATACCAAAATATTAACAAGGGTTAATTTTGTAAATGTCTTCTCTATATCCTTTTTGTACCCTTTGTATTCTTTTTGTGTTTTCTGTAATGAGTTTATATTATTTTTATAAGCAGTTTGAATACATGTGAAATGTTAAATTCTTTCCAGTATCTTCTCTTAATTGCATGTGTTTTTCACTAAACACTGAATTGGTTTAATGTAGAAAACTTCATCTGTTCGATTTCATTCTTTAAGTAAATACATAAACCATATCGGGGGAGGC... | ACAATAAGATGTCCAATATTACTACTACCATTTGAGAAAAATTTACTGGAAGAAAATATACCAAAATATTAACAAGGGTTAATTTTGTAAATGTCTTCTCTATATCCTTTTTGTACCCTTTGTATTCTTTTTGTGTTTTCTGTAATGAGTTTATATTATTTTTATAAGCAGTTTGAATACATGTGAAATGTTAAATTCTTTCCAGTATCTTCTCTTAATTGCATGTGTTTTTCACTAAACACTGAATTGGTTTAATGTAGAAAACTTCATCTGTTCGATTTCATTCTTTAAGTAAATACATAAACCATATCGGGGGAGGC... |
Task1_train_29111 | The variant affects gene CDKL5 (cyclin dependent kinase like 5), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Angelman syndrome-like | GGATATTAGAGAAGCATGTTCTCGATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCC... | GGATATTAGAGAAGCATGTTCTCGATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCC... |
Task1_train_29112 | A change on Chromosome X affects gene CDKL5 (cyclin dependent kinase like 5). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 2 | GGATATTAGAGAAGCATGTTCTCGATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCC... | GGATATTAGAGAAGCATGTTCTCGATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCC... |
Task1_train_29113 | This variant impacts the gene CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; CDKL5 disorder | GTTCTCGATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTTTCCTACTGCTGGTTC... | GTTCTCGATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTTTCCTACTGCTGGTTC... |
Task1_train_29114 | The variant affects gene CDKL5 (cyclin dependent kinase like 5), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; CDKL5 disorder | TCGATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTTTCCTACTGCTGGTTCTTGT... | TCGATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTTTCCTACTGCTGGTTCTTGT... |
Task1_train_29115 | This alteration in CDKL5 (cyclin dependent kinase like 5) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; CDKL5 disorder | TCGATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTTTCCTACTGCTGGTTCTTGT... | TCGATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTTTCCTACTGCTGGTTCTTGT... |
Task1_train_29116 | This alteration in CDKL5 (cyclin dependent kinase like 5) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 2 | GATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTTTCCTACTGCTGGTTCTTGTCT... | GATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTTTCCTACTGCTGGTTCTTGTCT... |
Task1_train_29117 | A variant found in Chromosome X affects CDKL5 (cyclin dependent kinase like 5). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Angelman syndrome-like | GATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTTTCCTACTGCTGGTTCTTGTCT... | GATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTTTCCTACTGCTGGTTCTTGTCT... |
Task1_train_29118 | The variant affects gene CDKL5 (cyclin dependent kinase like 5), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Developmental and epileptic encephalopathy, 2 | GAATTTGTTAATTGAAAAAGAGAATTCAAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTC... | GAATTTGTTAATTGAAAAAGAGAATTCAAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTC... |
Task1_train_29119 | With a mutation on Chromosome X in gene CDKL5 (cyclin dependent kinase like 5), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | TTTGTTAATTGAAAAAGAGAATTCAAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTCACA... | TTTGTTAATTGAAAAAGAGAATTCAAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTCACA... |
Task1_train_29120 | The following genetic variant occurs in CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; CDKL5 disorder | TTGAAAAAGAGAATTCAAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTCACATTTGATTA... | TTGAAAAAGAGAATTCAAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTCACATTTGATTA... |
Task1_train_29121 | This variant affects gene CDKL5 (cyclin dependent kinase like 5) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Developmental and epileptic encephalopathy, 2 | TTGAAAAAGAGAATTCAAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTCACATTTGATTA... | TTGAAAAAGAGAATTCAAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTCACATTTGATTA... |
Task1_train_29122 | The gene CDKL5 (cyclin dependent kinase like 5) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Developmental and epileptic encephalopathy, 2 | AAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTCACATTTGATTAGATGGCAATAAGTTTA... | AAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTCACATTTGATTAGATGGCAATAAGTTTA... |
Task1_train_29123 | Gene CDKL5 (cyclin dependent kinase like 5) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Angelman syndrome-like | AAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTCACATTTGATTAGATGGCAATAAGTTTA... | AAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTCACATTTGATTAGATGGCAATAAGTTTA... |
Task1_train_29124 | Here is a variant affecting CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; CDKL5 disorder | AAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTCACATTTGATTAGATGGCAATAAGTTTA... | AAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTCACATTTGATTAGATGGCAATAAGTTTA... |
Task1_train_29125 | The following genetic variant occurs in CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; CDKL5-related disorder | AAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTCACATTTGATTAGATGGCAATAAGTTTA... | AAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTCACATTTGATTAGATGGCAATAAGTTTA... |
Task1_train_29126 | This genomic variant is located on Chromosome X, within the CDKL5 (cyclin dependent kinase like 5) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Developmental and epileptic encephalopathy, 2 | ATGCTCGAATTGCTGGAAGAAATGCCAAATGGAGTTCCACCTGAGAAAGTAAAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTA... | ATGCTCGAATTGCTGGAAGAAATGCCAAATGGAGTTCCACCTGAGAAAGTAAAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTA... |
Task1_train_29127 | This variant affects gene CDKL5 (cyclin dependent kinase like 5) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Angelman syndrome-like | ATGCTCGAATTGCTGGAAGAAATGCCAAATGGAGTTCCACCTGAGAAAGTAAAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTA... | ATGCTCGAATTGCTGGAAGAAATGCCAAATGGAGTTCCACCTGAGAAAGTAAAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTA... |
Task1_train_29128 | A change on Chromosome X affects gene CDKL5 (cyclin dependent kinase like 5). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | TGCTCGAATTGCTGGAAGAAATGCCAAATGGAGTTCCACCTGAGAAAGTAAAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTAT... | TGCTCGAATTGCTGGAAGAAATGCCAAATGGAGTTCCACCTGAGAAAGTAAAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTAT... |
Task1_train_29129 | Gene CDKL5 (cyclin dependent kinase like 5), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | AATTGCTGGAAGAAATGCCAAATGGAGTTCCACCTGAGAAAGTAAAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTATTTGGAT... | AATTGCTGGAAGAAATGCCAAATGGAGTTCCACCTGAGAAAGTAAAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTATTTGGAT... |
Task1_train_29130 | A mutation on Chromosome X affecting CDKL5 (cyclin dependent kinase like 5) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | CACCTGAGAAAGTAAAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTATTTGGATATTGTGGTGAGATCTTTACATTTGTATAAC... | CACCTGAGAAAGTAAAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTATTTGGATATTGTGGTGAGATCTTTACATTTGTATAAC... |
Task1_train_29131 | A mutation on Chromosome X affecting CDKL5 (cyclin dependent kinase like 5) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; CDKL5 disorder | AAGTAAAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTATTTGGATATTGTGGTGAGATCTTTACATTTGTATAACTATTATAGA... | AAGTAAAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTATTTGGATATTGTGGTGAGATCTTTACATTTGTATAACTATTATAGA... |
Task1_train_29132 | A mutation in CDKL5 (cyclin dependent kinase like 5), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Angelman syndrome-like | AAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTATTTGGATATTGTGGTGAGATCTTTACATTTGTATAACTATTATAGATCCAC... | AAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTATTTGGATATTGTGGTGAGATCTTTACATTTGTATAACTATTATAGATCCAC... |
Task1_train_29133 | This alteration in CDKL5 (cyclin dependent kinase like 5) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 2 | AAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTATTTGGATATTGTGGTGAGATCTTTACATTTGTATAACTATTATAGATCCAC... | AAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTATTTGGATATTGTGGTGAGATCTTTACATTTGTATAACTATTATAGATCCAC... |
Task1_train_29134 | This mutation is located in gene CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; CDKL5 disorder | TCACAAAAATTTTTTTTGAATGTTGATAGTTGTTCCAGGTTTAATCATGAACACTAAAATATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATT... | TCACAAAAATTTTTTTTGAATGTTGATAGTTGTTCCAGGTTTAATCATGAACACTAAAATATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATT... |
Task1_train_29135 | A genetic alteration is present in CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Developmental and epileptic encephalopathy, 2 | CATGAACACTAAAATATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTT... | CATGAACACTAAAATATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTT... |
Task1_train_29136 | This gene mutation involves CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Inborn genetic diseases | CATGAACACTAAAATATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTT... | CATGAACACTAAAATATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTT... |
Task1_train_29137 | This variant affects the gene CDKL5 (cyclin dependent kinase like 5) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; CDKL5 disorder | CATGAACACTAAAATATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTT... | CATGAACACTAAAATATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTT... |
Task1_train_29138 | This mutation is located in gene CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Developmental and epileptic encephalopathy, 2 | TAAAATATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATA... | TAAAATATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATA... |
Task1_train_29139 | A variant found in Chromosome X affects CDKL5 (cyclin dependent kinase like 5). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; CDKL5 disorder | AAATATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGT... | AAATATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGT... |
Task1_train_29140 | This sequence variant lies in CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; CDKL5 disorder | AATATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTT... | AATATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTT... |
Task1_train_29141 | A variant was discovered in gene CDKL5 (cyclin dependent kinase like 5), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; CDKL5 disorder | TATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTT... | TATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTT... |
Task1_train_29142 | The gene CDKL5 (cyclin dependent kinase like 5), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Angelman syndrome-like | TATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTT... | TATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTT... |
Task1_train_29143 | Gene CDKL5 (cyclin dependent kinase like 5), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Developmental and epileptic encephalopathy, 2 | TATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTT... | TATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTT... |
Task1_train_29144 | Consider this mutation in CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Angelman syndrome-like | CCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCT... | CCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCT... |
Task1_train_29145 | A mutation found in CDKL5 (cyclin dependent kinase like 5) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Developmental and epileptic encephalopathy, 2 | CCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCT... | CCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCT... |
Task1_train_29146 | The gene CDKL5 (cyclin dependent kinase like 5) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Intellectual disability | CCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCT... | CCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCT... |
Task1_train_29147 | Gene CDKL5 (cyclin dependent kinase like 5), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Atypical Rett syndrome | CCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCT... | CCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCT... |
Task1_train_29148 | This mutation occurs in CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 2 | CCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCT... | CCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCT... |
Task1_train_29149 | This variant affects the gene CDKL5 (cyclin dependent kinase like 5) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Angelman syndrome-like | CCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCT... | CCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCT... |
Task1_train_29150 | Chromosome X houses a mutation in gene CDKL5 (cyclin dependent kinase like 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Inborn genetic diseases | CCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCT... | CCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCT... |
Task1_train_29151 | Here is a genetic alteration in CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; CDKL5 disorder | CCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCT... | CCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCT... |
Task1_train_29152 | A mutation found in CDKL5 (cyclin dependent kinase like 5) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Developmental and epileptic encephalopathy, 2 | CCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCT... | CCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCT... |
Task1_train_29153 | Here is a genetic alteration in CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; CDKL5 disorder | CTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTA... | CTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTA... |
Task1_train_29154 | A sequence alteration has been identified in CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Angelman syndrome-like | CTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTA... | CTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTA... |
Task1_train_29155 | This gene mutation involves CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 2 | CTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTA... | CTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTA... |
Task1_train_29156 | A variant has been detected on Chromosome X in CDKL5 (cyclin dependent kinase like 5). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; CDKL5 disorder | CTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTA... | CTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTA... |
Task1_train_29157 | This is a variant in CDKL5 (cyclin dependent kinase like 5), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Developmental and epileptic encephalopathy, 2 | CTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTA... | CTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTA... |
Task1_train_29158 | A variant was discovered on Chromosome X, affecting CDKL5 (cyclin dependent kinase like 5). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Angelman syndrome-like | CTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTA... | CTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTA... |
Task1_train_29159 | This genomic variant is located on Chromosome X, within the CDKL5 (cyclin dependent kinase like 5) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; CDKL5 disorder | AAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTAACCTGT... | AAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTAACCTGT... |
Task1_train_29160 | This variant affects the gene CDKL5 (cyclin dependent kinase like 5) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | TACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTAACCTGTATG... | TACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTAACCTGTATG... |
Task1_train_29161 | A variant has been detected on Chromosome X in CDKL5 (cyclin dependent kinase like 5). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; CDKL5 disorder | ACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTAACCTGTATGCTG... | ACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTAACCTGTATGCTG... |
Task1_train_29162 | A change on Chromosome X affects gene CDKL5 (cyclin dependent kinase like 5). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | TGAAGAGCATGATGACGACATGTTTAAGTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCC... | TGAAGAGCATGATGACGACATGTTTAAGTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCC... |
Task1_train_29163 | The variant affects gene CDKL5 (cyclin dependent kinase like 5), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Developmental and epileptic encephalopathy, 2 | GAAGAGCATGATGACGACATGTTTAAGTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCG... | GAAGAGCATGATGACGACATGTTTAAGTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCG... |
Task1_train_29164 | Mutation context: Chromosome X, Gene CDKL5 (cyclin dependent kinase like 5). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Angelman syndrome-like | GAAGAGCATGATGACGACATGTTTAAGTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCG... | GAAGAGCATGATGACGACATGTTTAAGTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCG... |
Task1_train_29165 | A variant was discovered in gene CDKL5 (cyclin dependent kinase like 5), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Developmental and epileptic encephalopathy, 2 | GCATGATGACGACATGTTTAAGTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTAC... | GCATGATGACGACATGTTTAAGTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTAC... |
Task1_train_29166 | Here is a genetic alteration in CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Angelman syndrome-like | GCATGATGACGACATGTTTAAGTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTAC... | GCATGATGACGACATGTTTAAGTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTAC... |
Task1_train_29167 | A mutation found in CDKL5 (cyclin dependent kinase like 5) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Angelman syndrome-like | GACATGTTTAAGTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACT... | GACATGTTTAAGTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACT... |
Task1_train_29168 | This variant affects gene CDKL5 (cyclin dependent kinase like 5) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Developmental and epileptic encephalopathy, 2 | GACATGTTTAAGTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACT... | GACATGTTTAAGTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACT... |
Task1_train_29169 | Here is a mutation in CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; CDKL5 disorder | GACATGTTTAAGTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACT... | GACATGTTTAAGTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACT... |
Task1_train_29170 | A genetic alteration is present in CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Developmental and epileptic encephalopathy, 2 | GTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACTCATTGGGATGC... | GTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACTCATTGGGATGC... |
Task1_train_29171 | This genomic variant is located on Chromosome X, within the CDKL5 (cyclin dependent kinase like 5) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Angelman syndrome-like | GTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACTCATTGGGATGC... | GTTACTCACTGAGGGTTTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACTCATTGGGATGC... |
Task1_train_29172 | Given this variant in gene CDKL5 (cyclin dependent kinase like 5) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 2 | TTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACTCATTGGGATGCATAGTCCATTTTCTTT... | TTATTTTGATATTAACTACTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACTCATTGGGATGCATAGTCCATTTTCTTT... |
Task1_train_29173 | A variant found in Chromosome X affects CDKL5 (cyclin dependent kinase like 5). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Angelman syndrome-like | CTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACTCATTGGGATGCATAGTCCATTTTCTTTTGGGAGAATTGAATTTAC... | CTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACTCATTGGGATGCATAGTCCATTTTCTTTTGGGAGAATTGAATTTAC... |
Task1_train_29174 | The gene CDKL5 (cyclin dependent kinase like 5) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Developmental and epileptic encephalopathy, 2 | CTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACTCATTGGGATGCATAGTCCATTTTCTTTTGGGAGAATTGAATTTAC... | CTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACTCATTGGGATGCATAGTCCATTTTCTTTTGGGAGAATTGAATTTAC... |
Task1_train_29175 | This variant affects gene CDKL5 (cyclin dependent kinase like 5) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; CDKL5 disorder | CTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACTCATTGGGATGCATAGTCCATTTTCTTTTGGGAGAATTGAATTTAC... | CTTATTTTCCAGTGTCTACCAACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACTCATTGGGATGCATAGTCCATTTTCTTTTGGGAGAATTGAATTTAC... |
Task1_train_29176 | Here is a variant affecting CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Developmental and epileptic encephalopathy, 2 | ACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACTCATTGGGATGCATAGTCCATTTTCTTTTGGGAGAATTGAATTTACTGGACACTTTACCAATGGAGA... | ACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACTCATTGGGATGCATAGTCCATTTTCTTTTGGGAGAATTGAATTTACTGGACACTTTACCAATGGAGA... |
Task1_train_29177 | Here is a genetic alteration in CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Angelman syndrome-like | ACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACTCATTGGGATGCATAGTCCATTTTCTTTTGGGAGAATTGAATTTACTGGACACTTTACCAATGGAGA... | ACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACTCATTGGGATGCATAGTCCATTTTCTTTTGGGAGAATTGAATTTACTGGACACTTTACCAATGGAGA... |
Task1_train_29178 | This variant impacts the gene CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; CDKL5 disorder | ACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACTCATTGGGATGCATAGTCCATTTTCTTTTGGGAGAATTGAATTTACTGGACACTTTACCAATGGAGA... | ACCGTCTAGTAGTAATTCTTGATTCATTGCTGACCTAAAGCCTGTAAGAATCATTGACATTAGTTTTTGAAAGCTTTACTATTTTTTTTAAATCAAAAGCTTGCTTTATCCTGAAAAACAAAGATGCTTAGTCACTTTATTATCTCTTCCATTGTGTAGGCAGAGTTTAGAGTTTTTATGCTAATTTTTAATCTTAGAATTAGGATTGATTTTCTTTGTGTTTGTCTATATTTCTTCCGTGTACCTTTTGGACTCATTGGGATGCATAGTCCATTTTCTTTTGGGAGAATTGAATTTACTGGACACTTTACCAATGGAGA... |
Task1_train_29179 | This is a variant in CDKL5 (cyclin dependent kinase like 5), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Angelman syndrome-like | AGCATTAATTTTCTTATCAATGAAATTTCACTCCTAGAAAAAATAAGGGGGTATCTGGTAGCATAAGATAGACCTCATACACAAAATATTAACATGTACTGGTATAGGGTCTTTTATCACAGCATGGTAGGTGTCTTTCTATTTGGGCTGATATTTAATGCTCCAGTAACATCGAAGGGAGCCTCTGTACTTCCCTTAGGAGAGGCACCTAGGTTTAGAAAGAGTGTGGGTTTGGATCACAAGACTGGGTGCAAATACTAGTTCTACTGCTGTTTAATTATGTAACTTGCCTTGAACCAGTTATTTGAACTTTCTGATTG... | AGCATTAATTTTCTTATCAATGAAATTTCACTCCTAGAAAAAATAAGGGGGTATCTGGTAGCATAAGATAGACCTCATACACAAAATATTAACATGTACTGGTATAGGGTCTTTTATCACAGCATGGTAGGTGTCTTTCTATTTGGGCTGATATTTAATGCTCCAGTAACATCGAAGGGAGCCTCTGTACTTCCCTTAGGAGAGGCACCTAGGTTTAGAAAGAGTGTGGGTTTGGATCACAAGACTGGGTGCAAATACTAGTTCTACTGCTGTTTAATTATGTAACTTGCCTTGAACCAGTTATTTGAACTTTCTGATTG... |
Task1_train_29180 | This genomic variant is located on Chromosome X, within the CDKL5 (cyclin dependent kinase like 5) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Developmental and epileptic encephalopathy, 2 | AGCATTAATTTTCTTATCAATGAAATTTCACTCCTAGAAAAAATAAGGGGGTATCTGGTAGCATAAGATAGACCTCATACACAAAATATTAACATGTACTGGTATAGGGTCTTTTATCACAGCATGGTAGGTGTCTTTCTATTTGGGCTGATATTTAATGCTCCAGTAACATCGAAGGGAGCCTCTGTACTTCCCTTAGGAGAGGCACCTAGGTTTAGAAAGAGTGTGGGTTTGGATCACAAGACTGGGTGCAAATACTAGTTCTACTGCTGTTTAATTATGTAACTTGCCTTGAACCAGTTATTTGAACTTTCTGATTG... | AGCATTAATTTTCTTATCAATGAAATTTCACTCCTAGAAAAAATAAGGGGGTATCTGGTAGCATAAGATAGACCTCATACACAAAATATTAACATGTACTGGTATAGGGTCTTTTATCACAGCATGGTAGGTGTCTTTCTATTTGGGCTGATATTTAATGCTCCAGTAACATCGAAGGGAGCCTCTGTACTTCCCTTAGGAGAGGCACCTAGGTTTAGAAAGAGTGTGGGTTTGGATCACAAGACTGGGTGCAAATACTAGTTCTACTGCTGTTTAATTATGTAACTTGCCTTGAACCAGTTATTTGAACTTTCTGATTG... |
Task1_train_29181 | A genomic change on Chromosome X affects CDKL5 (cyclin dependent kinase like 5). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; CDKL5 disorder | AGCATTAATTTTCTTATCAATGAAATTTCACTCCTAGAAAAAATAAGGGGGTATCTGGTAGCATAAGATAGACCTCATACACAAAATATTAACATGTACTGGTATAGGGTCTTTTATCACAGCATGGTAGGTGTCTTTCTATTTGGGCTGATATTTAATGCTCCAGTAACATCGAAGGGAGCCTCTGTACTTCCCTTAGGAGAGGCACCTAGGTTTAGAAAGAGTGTGGGTTTGGATCACAAGACTGGGTGCAAATACTAGTTCTACTGCTGTTTAATTATGTAACTTGCCTTGAACCAGTTATTTGAACTTTCTGATTG... | AGCATTAATTTTCTTATCAATGAAATTTCACTCCTAGAAAAAATAAGGGGGTATCTGGTAGCATAAGATAGACCTCATACACAAAATATTAACATGTACTGGTATAGGGTCTTTTATCACAGCATGGTAGGTGTCTTTCTATTTGGGCTGATATTTAATGCTCCAGTAACATCGAAGGGAGCCTCTGTACTTCCCTTAGGAGAGGCACCTAGGTTTAGAAAGAGTGTGGGTTTGGATCACAAGACTGGGTGCAAATACTAGTTCTACTGCTGTTTAATTATGTAACTTGCCTTGAACCAGTTATTTGAACTTTCTGATTG... |
Task1_train_29182 | Assess the clinical impact of this variant on gene CDKL5 (cyclin dependent kinase like 5), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 2 | AGGCTTTCAGAAATATCACAATAAAGAGGCATTTCTGTCTTACCCAATATTTTCCAAATTTAATTAAATACTGAATACTGTTTTTTATAAAACTCTAAAGCTCTAGTGTTCTTCTGAATACAGATTGAGAAATGCTACTGGCAAAAAAGAACCCTTAAAGCCTTTTGTTTAATTAGTCATAAATTATCACTTAAATCAGGTAGGTTTTGTCAATACACTTTTTCACACAGTCAGTCCTCATGGATTGGGACCTCAATAATTTGGTAACTTCTAAAATGTGAATAGAATAAAGTAGGAACATGGAATTAAATACAATTTCA... | AGGCTTTCAGAAATATCACAATAAAGAGGCATTTCTGTCTTACCCAATATTTTCCAAATTTAATTAAATACTGAATACTGTTTTTTATAAAACTCTAAAGCTCTAGTGTTCTTCTGAATACAGATTGAGAAATGCTACTGGCAAAAAAGAACCCTTAAAGCCTTTTGTTTAATTAGTCATAAATTATCACTTAAATCAGGTAGGTTTTGTCAATACACTTTTTCACACAGTCAGTCCTCATGGATTGGGACCTCAATAATTTGGTAACTTCTAAAATGTGAATAGAATAAAGTAGGAACATGGAATTAAATACAATTTCA... |
Task1_train_29183 | Here is a genetic alteration in CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Angelman syndrome-like | AGGCTTTCAGAAATATCACAATAAAGAGGCATTTCTGTCTTACCCAATATTTTCCAAATTTAATTAAATACTGAATACTGTTTTTTATAAAACTCTAAAGCTCTAGTGTTCTTCTGAATACAGATTGAGAAATGCTACTGGCAAAAAAGAACCCTTAAAGCCTTTTGTTTAATTAGTCATAAATTATCACTTAAATCAGGTAGGTTTTGTCAATACACTTTTTCACACAGTCAGTCCTCATGGATTGGGACCTCAATAATTTGGTAACTTCTAAAATGTGAATAGAATAAAGTAGGAACATGGAATTAAATACAATTTCA... | AGGCTTTCAGAAATATCACAATAAAGAGGCATTTCTGTCTTACCCAATATTTTCCAAATTTAATTAAATACTGAATACTGTTTTTTATAAAACTCTAAAGCTCTAGTGTTCTTCTGAATACAGATTGAGAAATGCTACTGGCAAAAAAGAACCCTTAAAGCCTTTTGTTTAATTAGTCATAAATTATCACTTAAATCAGGTAGGTTTTGTCAATACACTTTTTCACACAGTCAGTCCTCATGGATTGGGACCTCAATAATTTGGTAACTTCTAAAATGTGAATAGAATAAAGTAGGAACATGGAATTAAATACAATTTCA... |
Task1_train_29184 | A genetic alteration is present in CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; CDKL5 disorder | TCTGTCTTACCCAATATTTTCCAAATTTAATTAAATACTGAATACTGTTTTTTATAAAACTCTAAAGCTCTAGTGTTCTTCTGAATACAGATTGAGAAATGCTACTGGCAAAAAAGAACCCTTAAAGCCTTTTGTTTAATTAGTCATAAATTATCACTTAAATCAGGTAGGTTTTGTCAATACACTTTTTCACACAGTCAGTCCTCATGGATTGGGACCTCAATAATTTGGTAACTTCTAAAATGTGAATAGAATAAAGTAGGAACATGGAATTAAATACAATTTCATGTTTTCTGCCTTTCATCTTTCTTTAGTTAAAA... | TCTGTCTTACCCAATATTTTCCAAATTTAATTAAATACTGAATACTGTTTTTTATAAAACTCTAAAGCTCTAGTGTTCTTCTGAATACAGATTGAGAAATGCTACTGGCAAAAAAGAACCCTTAAAGCCTTTTGTTTAATTAGTCATAAATTATCACTTAAATCAGGTAGGTTTTGTCAATACACTTTTTCACACAGTCAGTCCTCATGGATTGGGACCTCAATAATTTGGTAACTTCTAAAATGTGAATAGAATAAAGTAGGAACATGGAATTAAATACAATTTCATGTTTTCTGCCTTTCATCTTTCTTTAGTTAAAA... |
Task1_train_29185 | Here is a genetic alteration in CDKL5 (cyclin dependent kinase like 5) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; CDKL5 disorder | TGGTCATAAACGAATTATAAACAGTTACTGTGGGCTAAGCACAGATCTGTTACAGACTGTGAAGGCCAGTTCAGGAGGTACAGTGCCCAGCTGCAAGAAAGTACAAGTTTAAAAGCACAAAGATACCAGAAGGCTGGAAAAGTAACTTAAGCTGTGAGTGAATCCTAGGAATCACTCCCATGCAAAGTATCGGGCCACCTTGAAAAGCACAGAGACTCTTACTGAGTTTATATTAGATGTTAATAATTTGTTTTCTTAAAATAATTTTTGTAGAGGCCTTTGTAAACAGTACAGGTGGTAAAAGTCAAATGAGACATTTT... | TGGTCATAAACGAATTATAAACAGTTACTGTGGGCTAAGCACAGATCTGTTACAGACTGTGAAGGCCAGTTCAGGAGGTACAGTGCCCAGCTGCAAGAAAGTACAAGTTTAAAAGCACAAAGATACCAGAAGGCTGGAAAAGTAACTTAAGCTGTGAGTGAATCCTAGGAATCACTCCCATGCAAAGTATCGGGCCACCTTGAAAAGCACAGAGACTCTTACTGAGTTTATATTAGATGTTAATAATTTGTTTTCTTAAAATAATTTTTGTAGAGGCCTTTGTAAACAGTACAGGTGGTAAAAGTCAAATGAGACATTTT... |
Task1_train_29186 | Here is a variant affecting CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | AGAGACAGTCGATTCGTGGTTGCAGAGGGCTTGGGGTGGCCGATGGGTTGGGGAGTGTTGGCTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTG... | AGAGACAGTCGATTCGTGGTTGCAGAGGGCTTGGGGTGGCCGATGGGTTGGGGAGTGTTGGCTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTG... |
Task1_train_29187 | This variant impacts the gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Juvenile retinoschisis | GAGACAGTCGATTCGTGGTTGCAGAGGGCTTGGGGTGGCCGATGGGTTGGGGAGTGTTGGCTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGA... | GAGACAGTCGATTCGTGGTTGCAGAGGGCTTGGGGTGGCCGATGGGTTGGGGAGTGTTGGCTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGA... |
Task1_train_29188 | A variant on Chromosome X in gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Retinal dystrophy | GCAGAGGGCTTGGGGTGGCCGATGGGTTGGGGAGTGTTGGCTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGAT... | GCAGAGGGCTTGGGGTGGCCGATGGGTTGGGGAGTGTTGGCTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGAT... |
Task1_train_29189 | Gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | GAGGGCTTGGGGTGGCCGATGGGTTGGGGAGTGTTGGCTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACT... | GAGGGCTTGGGGTGGCCGATGGGTTGGGGAGTGTTGGCTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACT... |
Task1_train_29190 | A change on Chromosome X affects gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Juvenile retinoschisis | TGGGGTGGCCGATGGGTTGGGGAGTGTTGGCTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTT... | TGGGGTGGCCGATGGGTTGGGGAGTGTTGGCTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTT... |
Task1_train_29191 | Gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Retinal dystrophy | TGGGGTGGCCGATGGGTTGGGGAGTGTTGGCTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTT... | TGGGGTGGCCGATGGGTTGGGGAGTGTTGGCTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTT... |
Task1_train_29192 | An alteration has been detected in CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Retinoschisis | TGGCCGATGGGTTGGGGAGTGTTGGCTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCT... | TGGCCGATGGGTTGGGGAGTGTTGGCTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCT... |
Task1_train_29193 | A variant was discovered on Chromosome X, affecting CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Retinal dystrophy | ATGGGTTGGGGAGTGTTGGCTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGT... | ATGGGTTGGGGAGTGTTGGCTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGT... |
Task1_train_29194 | A genomic change on Chromosome X affects CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | GGGGAGTGTTGGCTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTC... | GGGGAGTGTTGGCTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTC... |
Task1_train_29195 | Here’s a variant in CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | CTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTT... | CTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTT... |
Task1_train_29196 | This variant lies on Chromosome X and affects the gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | CTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTT... | CTGATGGGTGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTT... |
Task1_train_29197 | The following genetic variant occurs in CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Retinal dystrophy | TGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACC... | TGCAGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACC... |
Task1_train_29198 | This alteration occurs within gene CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Retinal dystrophy | AGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTT... | AGGATTTCTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTT... |
Task1_train_29199 | A variant was discovered on Chromosome X, affecting CDKL5, RS1 (cyclin dependent kinase like 5| retinoschisin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Retinal dystrophy | CTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATA... | CTCTTTGGGGTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATA... |
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