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 |
|---|---|---|---|---|
Task1_train_8400 | This alteration occurs within gene DOK7 (docking protein 7) located on Chromosome 4. Is it associated with a disease or is it a benign variant? | Pathogenic; Fetal akinesia deformation sequence 1 | CCAGGCCTTGCCCGGTTGACCGTGTCTTCGGGGTGAGTGACGCTCCGCAGACGCCGCATGGAATGCGGGGCCGGCTCCACTCCTTCCGTAATGTGGTTTTTTATAGTCGGGGGACTCATTGTCCCGTGGCCACTGCCAGCTGTCTGTAAGCTCAGGATTAGAGAGCCTGGCCTTTCGTGAGAGCTGGGGCTGTGCCGGCTGAGCCCTTCACAGGGAGGGGTGGACCACGGGGACAGGGAGCGACTGCCTGGCACTGAGTGAGCCAGCCAGCAGACAGCATGACGGCCTTCTCCTTGCCTGCCCCCAGGGCCTGGTGCAGG... | CCAGGCCTTGCCCGGTTGACCGTGTCTTCGGGGTGAGTGACGCTCCGCAGACGCCGCATGGAATGCGGGGCCGGCTCCACTCCTTCCGTAATGTGGTTTTTTATAGTCGGGGGACTCATTGTCCCGTGGCCACTGCCAGCTGTCTGTAAGCTCAGGATTAGAGAGCCTGGCCTTTCGTGAGAGCTGGGGCTGTGCCGGCTGAGCCCTTCACAGGGAGGGGTGGACCACGGGGACAGGGAGCGACTGCCTGGCACTGAGTGAGCCAGCCAGCAGACAGCATGACGGCCTTCTCCTTGCCTGCCCCCAGGGCCTGGTGCAGG... |
Task1_train_8401 | Given this variant in gene DOK7 (docking protein 7) on Chromosome 4, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Congenital myasthenic syndrome 10 | CCAGGCCTTGCCCGGTTGACCGTGTCTTCGGGGTGAGTGACGCTCCGCAGACGCCGCATGGAATGCGGGGCCGGCTCCACTCCTTCCGTAATGTGGTTTTTTATAGTCGGGGGACTCATTGTCCCGTGGCCACTGCCAGCTGTCTGTAAGCTCAGGATTAGAGAGCCTGGCCTTTCGTGAGAGCTGGGGCTGTGCCGGCTGAGCCCTTCACAGGGAGGGGTGGACCACGGGGACAGGGAGCGACTGCCTGGCACTGAGTGAGCCAGCCAGCAGACAGCATGACGGCCTTCTCCTTGCCTGCCCCCAGGGCCTGGTGCAGG... | CCAGGCCTTGCCCGGTTGACCGTGTCTTCGGGGTGAGTGACGCTCCGCAGACGCCGCATGGAATGCGGGGCCGGCTCCACTCCTTCCGTAATGTGGTTTTTTATAGTCGGGGGACTCATTGTCCCGTGGCCACTGCCAGCTGTCTGTAAGCTCAGGATTAGAGAGCCTGGCCTTTCGTGAGAGCTGGGGCTGTGCCGGCTGAGCCCTTCACAGGGAGGGGTGGACCACGGGGACAGGGAGCGACTGCCTGGCACTGAGTGAGCCAGCCAGCAGACAGCATGACGGCCTTCTCCTTGCCTGCCCCCAGGGCCTGGTGCAGG... |
Task1_train_8402 | A variant has been detected on Chromosome 4 in DOK7 (docking protein 7). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Congenital myasthenic syndrome 10 | TCCTTCTTCTTCCTGCTCATTCATTCCTTCCTTCCCCCCCATTCCTTCCTTTCTTTTCCCCCGGCTCATTCCTTCCTTCTCCCCACTCCTGCTCATTAATTCCTTCCCTCTCCCCCTGCTCGTTCATTCGTTTCTCCCTTCCCCCCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCATTCCTTCCCCCCTGCTCATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCC... | TCCTTCTTCTTCCTGCTCATTCATTCCTTCCTTCCCCCCCATTCCTTCCTTTCTTTTCCCCCGGCTCATTCCTTCCTTCTCCCCACTCCTGCTCATTAATTCCTTCCCTCTCCCCCTGCTCGTTCATTCGTTTCTCCCTTCCCCCCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCATTCCTTCCCCCCTGCTCATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCC... |
Task1_train_8403 | A variant affecting Chromosome 4, within the gene LOC129992137, MSX1 (ATAC-STARR-seq lymphoblastoid silent region 15219| msh homeobox 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Tooth agenesis, selective, 1 | TCCCGAACTTCCCCAGGCCTCAGCATATCTCGGCGGCCTGTGGACAGATGGGAGGCTACCAATCGCTCCGGCGTCCGCAGCCCGACCCCTGCCGCCAGACCCCGGACGTCTTCCGGATAATAAAGTTCCCGCTCTAATTCATTTTCCCTAATCTGGACGCCCCTAATCTACAGCTTTTATTGCGCCCAGTTAAAAGTCGAGGGAATTCGCTGTCCCTCCGCGCTCGGATAATTACCCCTAAATGGCCACGGCAGCCCCTTGTGTTTCCTGGAGATTAGAACCCCGCAGTCATCAATGGCAGGGCCGAGTGAGCCGCCAAT... | TCCCGAACTTCCCCAGGCCTCAGCATATCTCGGCGGCCTGTGGACAGATGGGAGGCTACCAATCGCTCCGGCGTCCGCAGCCCGACCCCTGCCGCCAGACCCCGGACGTCTTCCGGATAATAAAGTTCCCGCTCTAATTCATTTTCCCTAATCTGGACGCCCCTAATCTACAGCTTTTATTGCGCCCAGTTAAAAGTCGAGGGAATTCGCTGTCCCTCCGCGCTCGGATAATTACCCCTAAATGGCCACGGCAGCCCCTTGTGTTTCCTGGAGATTAGAACCCCGCAGTCATCAATGGCAGGGCCGAGTGAGCCGCCAAT... |
Task1_train_8404 | The gene MSX1 (msh homeobox 1), on Chromosome 4, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Orofacial cleft 5 | ATCTACAGCTTTTATTGCGCCCAGTTAAAAGTCGAGGGAATTCGCTGTCCCTCCGCGCTCGGATAATTACCCCTAAATGGCCACGGCAGCCCCTTGTGTTTCCTGGAGATTAGAACCCCGCAGTCATCAATGGCAGGGCCGAGTGAGCCGCCAATCACCTCCGCTCACTCCCTGAGAGCCGCTGGCCTGGGCCGCAGGAGGAGAGGCCATAAAGCGACAGGCGCAGAAAATGGCCAAGCCCCGACCCCGCTTCAGGCAGATCTTGCATCTCCCCTGACCCCAACTCATTTTTTCTGTCTTTATTATTATTATTATTATTA... | ATCTACAGCTTTTATTGCGCCCAGTTAAAAGTCGAGGGAATTCGCTGTCCCTCCGCGCTCGGATAATTACCCCTAAATGGCCACGGCAGCCCCTTGTGTTTCCTGGAGATTAGAACCCCGCAGTCATCAATGGCAGGGCCGAGTGAGCCGCCAATCACCTCCGCTCACTCCCTGAGAGCCGCTGGCCTGGGCCGCAGGAGGAGAGGCCATAAAGCGACAGGCGCAGAAAATGGCCAAGCCCCGACCCCGCTTCAGGCAGATCTTGCATCTCCCCTGACCCCAACTCATTTTTTCTGTCTTTATTATTATTATTATTATTA... |
Task1_train_8405 | With a mutation on Chromosome 4 in gene MSX1 (msh homeobox 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Tooth agenesis, selective, 1 | TTCCCTTTCAAGTACCTCTTTGCCTAGAGGTTCCGAAGCTCCTACAGAATTCTACCTCCCCATGCCCTTTGAGTTTGAGGCAGATAGTTGGTGCTTTGGGCGGATGGATGATTCAGGGGTGGGGACATTCAGGTTCCAGTGGAGGGGGCGGGGCACCAAGTCAATTAGGGGAAGGCGCCCCCGCTAATCCTATGGGAAGCTCCCAAACGTCTAGGACTGAGCCATTAAAGTGGACTCCAGGTGCCCAAGGCGGTTCGCTCCAAGGCCTCACGGCCCCCTGGCTGCTCTACTCAGAGAACACGCTCGGAGATATTTCAGGA... | TTCCCTTTCAAGTACCTCTTTGCCTAGAGGTTCCGAAGCTCCTACAGAATTCTACCTCCCCATGCCCTTTGAGTTTGAGGCAGATAGTTGGTGCTTTGGGCGGATGGATGATTCAGGGGTGGGGACATTCAGGTTCCAGTGGAGGGGGCGGGGCACCAAGTCAATTAGGGGAAGGCGCCCCCGCTAATCCTATGGGAAGCTCCCAAACGTCTAGGACTGAGCCATTAAAGTGGACTCCAGGTGCCCAAGGCGGTTCGCTCCAAGGCCTCACGGCCCCCTGGCTGCTCTACTCAGAGAACACGCTCGGAGATATTTCAGGA... |
Task1_train_8406 | Assess the clinical impact of this variant on gene EVC2 (EvC ciliary complex subunit 2), found on Chromosome 4. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Ellis-van Creveld syndrome | TACATTTATTTATTTATGTTGAGACAGAGTCTCACTCTGTTAACCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCGCATGTCTCAGTCTCCCGAGTAGCTGGAATCACAGACACGCACCACCATGCTCAGCTAATTTTTTTTGTATTTTTAGTAAAGACCGGTTTAGCCATGTTGGCCAGGCTGATCTTGAACTCCTGGCTTCAAGTGATCAGCCCACCTCAGCCTCCCAAAGTACTGAGATTACAGGCATGAGCCACTATGCCTGGCCACTAAATTTATTTTAA... | TACATTTATTTATTTATGTTGAGACAGAGTCTCACTCTGTTAACCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCGCATGTCTCAGTCTCCCGAGTAGCTGGAATCACAGACACGCACCACCATGCTCAGCTAATTTTTTTTGTATTTTTAGTAAAGACCGGTTTAGCCATGTTGGCCAGGCTGATCTTGAACTCCTGGCTTCAAGTGATCAGCCCACCTCAGCCTCCCAAAGTACTGAGATTACAGGCATGAGCCACTATGCCTGGCCACTAAATTTATTTTAA... |
Task1_train_8407 | The gene JAKMIP1 (janus kinase and microtubule interacting protein 1) is located on Chromosome 4, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Smith-Magenis Syndrome-like | GATGGCAGGGCTTAAGAAGATGCTCTGGGGTGAGACTGAAGGAAAGAGGGAGGGCTGGGCACTAATTCAATCAATTTCCATGAAGCCCTAACCTGACTAACCTAGGTTTGAAACAGTCTAGTAAGAAAACCTTATTTCCCTTATTAGCCAAAATTTAAAAAAATAAAATAAAAAAAAAACAAGCAAAAAAACAAATTTCATGATGGTTCCATTCCACAGATGACTTTCTACCAGCAAATTTACTTAAATGGCGTCCCCATAGAAAAAGTGGCCCCCAAAACTCAGATTTTATATGAACAAAAGTCATTTTGTAGGCCGGG... | GATGGCAGGGCTTAAGAAGATGCTCTGGGGTGAGACTGAAGGAAAGAGGGAGGGCTGGGCACTAATTCAATCAATTTCCATGAAGCCCTAACCTGACTAACCTAGGTTTGAAACAGTCTAGTAAGAAAACCTTATTTCCCTTATTAGCCAAAATTTAAAAAAATAAAATAAAAAAAAAACAAGCAAAAAAACAAATTTCATGATGGTTCCATTCCACAGATGACTTTCTACCAGCAAATTTACTTAAATGGCGTCCCCATAGAAAAAGTGGCCCCCAAAACTCAGATTTTATATGAACAAAAGTCATTTTGTAGGCCGGG... |
Task1_train_8408 | Assess the clinical impact of this variant on gene WFS1 (wolframin ER transmembrane glycoprotein), found on Chromosome 4. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Wolfram-like syndrome | ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTG... | ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTG... |
Task1_train_8409 | This is a variant in WFS1 (wolframin ER transmembrane glycoprotein), located on Chromosome 4. Is this mutation a likely cause of disease or not? | Pathogenic; Cataract 41 | ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTG... | ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTG... |
Task1_train_8410 | Gene WFS1 (wolframin ER transmembrane glycoprotein), found on Chromosome 4, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 6 | ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTG... | ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTG... |
Task1_train_8411 | A variant found in Chromosome 4 affects WFS1 (wolframin ER transmembrane glycoprotein). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Type 2 diabetes mellitus | ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTG... | ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTG... |
Task1_train_8412 | Here’s a variant in WFS1 (wolframin ER transmembrane glycoprotein) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Wolfram syndrome 1 | ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTG... | ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTG... |
Task1_train_8413 | Given this context: Chromosome 4, gene WFS1 (wolframin ER transmembrane glycoprotein) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | CCTGCCCCTCTCCTCTCATCTGTGGAAGACTCAGTCTTCTGGTTGTTTCCAGGTGTCCTGGTCCTCCAGAGCTGATAGCCAGGCTGTTGGCAGGTGAGGGCCACATTCTGGTGTTGTCACCTAGTTGCCATTCACCTGGGATCCCTCCTTGGCCTTCTGGTGGGCCTGGTGGAGAGAACCTGCCCCAGGGGATTTGTGGGGTCTGGTGCTTCCCCGAGGCCCGGAGCTGATGGGGGGCTCCAGCCTGGATGTGTCATGTAGCCCCTCAGTGGGCCCTGGACATGCAGCCAGGCTTCCCTACCCCCATGTGGGGCCGCCCC... | CCTGCCCCTCTCCTCTCATCTGTGGAAGACTCAGTCTTCTGGTTGTTTCCAGGTGTCCTGGTCCTCCAGAGCTGATAGCCAGGCTGTTGGCAGGTGAGGGCCACATTCTGGTGTTGTCACCTAGTTGCCATTCACCTGGGATCCCTCCTTGGCCTTCTGGTGGGCCTGGTGGAGAGAACCTGCCCCAGGGGATTTGTGGGGTCTGGTGCTTCCCCGAGGCCCGGAGCTGATGGGGGGCTCCAGCCTGGATGTGTCATGTAGCCCCTCAGTGGGCCCTGGACATGCAGCCAGGCTTCCCTACCCCCATGTGGGGCCGCCCC... |
Task1_train_8414 | A variant affecting Chromosome 4, within the gene WFS1 (wolframin ER transmembrane glycoprotein), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Optic atrophy | ACTCAGTCTTCTGGTTGTTTCCAGGTGTCCTGGTCCTCCAGAGCTGATAGCCAGGCTGTTGGCAGGTGAGGGCCACATTCTGGTGTTGTCACCTAGTTGCCATTCACCTGGGATCCCTCCTTGGCCTTCTGGTGGGCCTGGTGGAGAGAACCTGCCCCAGGGGATTTGTGGGGTCTGGTGCTTCCCCGAGGCCCGGAGCTGATGGGGGGCTCCAGCCTGGATGTGTCATGTAGCCCCTCAGTGGGCCCTGGACATGCAGCCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCC... | ACTCAGTCTTCTGGTTGTTTCCAGGTGTCCTGGTCCTCCAGAGCTGATAGCCAGGCTGTTGGCAGGTGAGGGCCACATTCTGGTGTTGTCACCTAGTTGCCATTCACCTGGGATCCCTCCTTGGCCTTCTGGTGGGCCTGGTGGAGAGAACCTGCCCCAGGGGATTTGTGGGGTCTGGTGCTTCCCCGAGGCCCGGAGCTGATGGGGGGCTCCAGCCTGGATGTGTCATGTAGCCCCTCAGTGGGCCCTGGACATGCAGCCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCC... |
Task1_train_8415 | Consider a variant on Chromosome 4 in gene WFS1 (wolframin ER transmembrane glycoprotein). Determine its clinical classification and disease relevance. | Pathogenic; not provided | TCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGT... | TCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGT... |
Task1_train_8416 | Located on Chromosome 4, this mutation impacts WFS1 (wolframin ER transmembrane glycoprotein). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Diabetes mellitus | CAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGA... | CAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGA... |
Task1_train_8417 | A variant was discovered on Chromosome 4, affecting WFS1 (wolframin ER transmembrane glycoprotein). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 6 | GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGT... | GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGT... |
Task1_train_8418 | A mutation in WFS1 (wolframin ER transmembrane glycoprotein), located on Chromosome 4, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Type 2 diabetes mellitus | GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGT... | GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGT... |
Task1_train_8419 | Here’s a variant in WFS1 (wolframin ER transmembrane glycoprotein) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cataract 41 | GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGT... | GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGT... |
Task1_train_8420 | This mutation is located in gene WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Wolfram syndrome 1 | GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGT... | GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGT... |
Task1_train_8421 | Here’s a variant in WFS1 (wolframin ER transmembrane glycoprotein) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Wolfram-like syndrome | GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGT... | GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGT... |
Task1_train_8422 | This mutation is located in gene WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | TTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTG... | TTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTG... |
Task1_train_8423 | Gene WFS1 (wolframin ER transmembrane glycoprotein), found on Chromosome 4, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | GGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGT... | GGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGT... |
Task1_train_8424 | A mutation on Chromosome 4 affecting WFS1 (wolframin ER transmembrane glycoprotein) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 6 | TGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTG... | TGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTG... |
Task1_train_8425 | A variant was discovered in gene WFS1 (wolframin ER transmembrane glycoprotein), Chromosome 4. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | TGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGT... | TGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGT... |
Task1_train_8426 | Here is a mutation in WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Diabetes mellitus | GGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTG... | GGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTG... |
Task1_train_8427 | Gene WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 6 | GTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAG... | GTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAG... |
Task1_train_8428 | A variant on Chromosome 4 in gene WFS1 (wolframin ER transmembrane glycoprotein) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | TTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCA... | TTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCA... |
Task1_train_8429 | A mutation found in WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Optic atrophy | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... |
Task1_train_8430 | This genomic variant is located on Chromosome 4, within the WFS1 (wolframin ER transmembrane glycoprotein) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal dominant nonsyndromic hearing loss | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... |
Task1_train_8431 | An alteration has been detected in WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Is it pathogenic, and if so, what disease is involved? | Pathogenic; WFS1-spectrum disorder | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... |
Task1_train_8432 | A mutation found in WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Wolfram syndrome 1 | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... |
Task1_train_8433 | This gene mutation involves WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Is it associated with any clinical condition, or is it benign? | Pathogenic; Rare genetic deafness | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... |
Task1_train_8434 | Consider a variant on Chromosome 4 in gene WFS1 (wolframin ER transmembrane glycoprotein). Determine its clinical classification and disease relevance. | Pathogenic; Wolfram syndrome 1 | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... |
Task1_train_8435 | This sequence variant lies in WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 6 | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... |
Task1_train_8436 | The gene WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Wolfram-like syndrome | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... |
Task1_train_8437 | A variant found in Chromosome 4 affects WFS1 (wolframin ER transmembrane glycoprotein). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; WFS1-related disorder | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... |
Task1_train_8438 | A mutation found in WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Inborn genetic diseases | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... | TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCAC... |
Task1_train_8439 | The gene WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Rare genetic deafness | TTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGA... | TTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGA... |
Task1_train_8440 | This sequence variant lies in WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Type 2 diabetes mellitus | TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCAC... | TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCAC... |
Task1_train_8441 | A mutation on Chromosome 4 affecting WFS1 (wolframin ER transmembrane glycoprotein) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 6 | TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCAC... | TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCAC... |
Task1_train_8442 | The gene WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Wolfram syndrome 1 | TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCAC... | TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCAC... |
Task1_train_8443 | The gene WFS1 (wolframin ER transmembrane glycoprotein) is located on Chromosome 4, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cataract 41 | TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCAC... | TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCAC... |
Task1_train_8444 | This sequence change occurs on Chromosome 4, altering WFS1 (wolframin ER transmembrane glycoprotein). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Wolfram-like syndrome | TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCAC... | TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCAC... |
Task1_train_8445 | This variant impacts the gene WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Is the change likely to result in a pathogenic outcome? | Pathogenic; Optic atrophy | GTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCG... | GTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCG... |
Task1_train_8446 | Gene WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCC... | TGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCC... |
Task1_train_8447 | A mutation found in WFS1, WFS1 (wolframin ER transmembrane glycoprotein| wolframin ER transmembrane glycoprotein) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Wolfram syndrome 1 | TAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGT... | TAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGT... |
Task1_train_8448 | With a mutation on Chromosome 4 in gene WFS1 (wolframin ER transmembrane glycoprotein), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Rare genetic deafness | GTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCAT... | GTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCAT... |
Task1_train_8449 | Here is a variant affecting WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | GGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTG... | GGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTG... |
Task1_train_8450 | This mutation occurs in WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | TGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAG... | TGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAG... |
Task1_train_8451 | A variant was discovered on Chromosome 4, affecting WFS1 (wolframin ER transmembrane glycoprotein). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Wolfram-like syndrome | CTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCA... | CTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCA... |
Task1_train_8452 | Here’s a variant in HMX1 (H6 family homeobox 1) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Oculoauricular syndrome | GTGGACCTGCGGGCCCAGAGGCTGAAGGAGGCCCCCTGGGCTTGCTGGAACCCTGGCCTCACAGTAAGGAACCAACTGATGGGCCGGGGCGGGGGCTGGGGCTTGGAGGACATGATTCTGGGTCAGGAGCTGGATGGTAGAGACACACAGATGCACTGACCCCCAGGCCCACTGCACGCTCTCCTTGGCCGTCTGGCGCTACCTTGATTGCCCCAAGACCAGCGTATGGCCCGGCTGCTGCCCATCTCACCCGGGGAGCGTCTACACCCAAGTGAAGCAGGACAGGGAGATGGGTTTTCTTAGGGGCTCAATTCTGCCAT... | GTGGACCTGCGGGCCCAGAGGCTGAAGGAGGCCCCCTGGGCTTGCTGGAACCCTGGCCTCACAGTAAGGAACCAACTGATGGGCCGGGGCGGGGGCTGGGGCTTGGAGGACATGATTCTGGGTCAGGAGCTGGATGGTAGAGACACACAGATGCACTGACCCCCAGGCCCACTGCACGCTCTCCTTGGCCGTCTGGCGCTACCTTGATTGCCCCAAGACCAGCGTATGGCCCGGCTGCTGCCCATCTCACCCGGGGAGCGTCTACACCCAAGTGAAGCAGGACAGGGAGATGGGTTTTCTTAGGGGCTCAATTCTGCCAT... |
Task1_train_8453 | This alteration in SLC2A9 (solute carrier family 2 member 9) on Chromosome 4 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hypouricemia, renal, 2 | TTCCCTGCCAGCCTTTGCTCAGTTATTTTATTCCCTCTCTAACAAGTACTTGTGGAGCCTTACTATGTCTTCAGCACAGTTCTAGGTTATCAGGATAAGATTGTGAACCACACACCAGGTCCTTTCATGGAGCTTATTTTCTAGCCTGGAGGAGACACACATTAAAGACAGACTGCAGCACACAGGCCGCATGCAGCCCACTGCCTGCTTTTGTAAATAAAGTTTTACTGGGACACAACCATGCAGTCCATTCATTTACTCGTTATCTATGGCTGTGTCCACACTACCATGGCAGAGGTGAGTAGTTGTGATAGAGAATG... | TTCCCTGCCAGCCTTTGCTCAGTTATTTTATTCCCTCTCTAACAAGTACTTGTGGAGCCTTACTATGTCTTCAGCACAGTTCTAGGTTATCAGGATAAGATTGTGAACCACACACCAGGTCCTTTCATGGAGCTTATTTTCTAGCCTGGAGGAGACACACATTAAAGACAGACTGCAGCACACAGGCCGCATGCAGCCCACTGCCTGCTTTTGTAAATAAAGTTTTACTGGGACACAACCATGCAGTCCATTCATTTACTCGTTATCTATGGCTGTGTCCACACTACCATGGCAGAGGTGAGTAGTTGTGATAGAGAATG... |
Task1_train_8454 | The variant affects gene SLC2A9 (solute carrier family 2 member 9), which is on Chromosome 4. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hypouricemia, renal, 2 | GAGAGACTGTTTCTAACACACTCGCAATTAATTATAGAAATCGTCATGCATATGACAACCACAAATGTAAAATGTGAGTTGTTTCTGTTTTTGCAAAAGAAGAAACTAAAGTCATAGCCGTAATAACCCAGAATGGTCATAATAAAAGATCAGAAGCAGATGCCTCTGAGGTGACCTCGATTGGCTGAAATATAAAAAGTCACTTATAATATCACAGAAAAGTACACTTAAGAATGGTCAAAATGGTAAACTTTATGTGGATTTTACCACAATAAAAAATGTTCAAAACATTTAAAATTTGCTTTAAAAATGGAATACAG... | GAGAGACTGTTTCTAACACACTCGCAATTAATTATAGAAATCGTCATGCATATGACAACCACAAATGTAAAATGTGAGTTGTTTCTGTTTTTGCAAAAGAAGAAACTAAAGTCATAGCCGTAATAACCCAGAATGGTCATAATAAAAGATCAGAAGCAGATGCCTCTGAGGTGACCTCGATTGGCTGAAATATAAAAAGTCACTTATAATATCACAGAAAAGTACACTTAAGAATGGTCAAAATGGTAAACTTTATGTGGATTTTACCACAATAAAAAATGTTCAAAACATTTAAAATTTGCTTTAAAAATGGAATACAG... |
Task1_train_8455 | Gene WDR1 (WD repeat domain 1) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Lazy leukocyte syndrome | GTCTTTTTTGATTTTGGGACTGGTGGTTTTTCCCTCTTCAACAGATTTTAAAAATACATAGTCAAATATATCACTTCTATTCTCTACCATTTTTGTCATTCTTAGAAACACTAGCGTTTGTGTGGCTAAATTCAGTATTTTCTTGCCCTCTTACGGTTTTTGCTGCAAAGACAAGGTAAGCAAGACTATTTTTGTCACCCAGTTTTATCATCACCATTTACTGAATGGTTCACCATTCCCATTGATGTGAAAAGTACCTTCTTCCTAACCCAAAATACACATAGGAACAAAGTCATTTGTGGACTTTTAATTATTAAGAG... | GTCTTTTTTGATTTTGGGACTGGTGGTTTTTCCCTCTTCAACAGATTTTAAAAATACATAGTCAAATATATCACTTCTATTCTCTACCATTTTTGTCATTCTTAGAAACACTAGCGTTTGTGTGGCTAAATTCAGTATTTTCTTGCCCTCTTACGGTTTTTGCTGCAAAGACAAGGTAAGCAAGACTATTTTTGTCACCCAGTTTTATCATCACCATTTACTGAATGGTTCACCATTCCCATTGATGTGAAAAGTACCTTCTTCCTAACCCAAAATACACATAGGAACAAAGTCATTTGTGGACTTTTAATTATTAAGAG... |
Task1_train_8456 | The gene WDR1 (WD repeat domain 1) on Chromosome 4 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Lazy leukocyte syndrome | AAGAAAGGTACTAACAACAGTAAACAAAAACAGCGACAGCCCCTAGGCACGTGCCAGCGCTCTGCTGTGAGTGTTCCAGCCCCACAAGGCAGGGATCGGGTTCCCCGTTTCAGAGAAGAAAATGGGGTACGGTGCTTATGCTGCACGCCCAAGGCTCCAGTTCCCACAGGCTGAGCCGGGACTCGCCCAGAATCCAAGCCTCGGCACCCGCACTGGGCCTTTGCCTCTGGTACATGCAGCAGAGGCTCTGCAGCGGGGGCCTTCCTTCCATCTCCCTTCCTTGTCAATTCTTCCGGTTCTAACTTACTCAACTGCTCCCA... | AAGAAAGGTACTAACAACAGTAAACAAAAACAGCGACAGCCCCTAGGCACGTGCCAGCGCTCTGCTGTGAGTGTTCCAGCCCCACAAGGCAGGGATCGGGTTCCCCGTTTCAGAGAAGAAAATGGGGTACGGTGCTTATGCTGCACGCCCAAGGCTCCAGTTCCCACAGGCTGAGCCGGGACTCGCCCAGAATCCAAGCCTCGGCACCCGCACTGGGCCTTTGCCTCTGGTACATGCAGCAGAGGCTCTGCAGCGGGGGCCTTCCTTCCATCTCCCTTCCTTGTCAATTCTTCCGGTTCTAACTTACTCAACTGCTCCCA... |
Task1_train_8457 | The following genetic variant occurs in WDR1 (WD repeat domain 1) on Chromosome 4. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Lazy leukocyte syndrome | GGGGCGTCAGCAGCCAGCGCTTTTTAGAGCTCCCAGGTGGTTCTAACACGCAGCCTGGGCTGATACCTGCTGCTCCATCCCACTGCAGCCCAGATCAGCACCGAACATCAGCATCTGCGTGACTCACACAGGTGTGGCATTTGAGAGTTGGGACATGGGGGTTTTGACAACTGGCCCTTGGGGTTTTGGTGGAAGGGTGGGATGCTGGTTGCTTTTTTGGGACATAAGTTTAGCCACGGTGGCAGGCCGGGTGCACTGGCCCCAGACAGTTGGCAGCAGTGGTATTAGGAAGAGCACTCTCAGGGCAGCCCTGCCAACAG... | GGGGCGTCAGCAGCCAGCGCTTTTTAGAGCTCCCAGGTGGTTCTAACACGCAGCCTGGGCTGATACCTGCTGCTCCATCCCACTGCAGCCCAGATCAGCACCGAACATCAGCATCTGCGTGACTCACACAGGTGTGGCATTTGAGAGTTGGGACATGGGGGTTTTGACAACTGGCCCTTGGGGTTTTGGTGGAAGGGTGGGATGCTGGTTGCTTTTTTGGGACATAAGTTTAGCCACGGTGGCAGGCCGGGTGCACTGGCCCCAGACAGTTGGCAGCAGTGGTATTAGGAAGAGCACTCTCAGGGCAGCCCTGCCAACAG... |
Task1_train_8458 | Assess the clinical impact of this variant on gene WDR1 (WD repeat domain 1), found on Chromosome 4. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Lazy leukocyte syndrome | TTTTAGAGCTCCCAGGTGGTTCTAACACGCAGCCTGGGCTGATACCTGCTGCTCCATCCCACTGCAGCCCAGATCAGCACCGAACATCAGCATCTGCGTGACTCACACAGGTGTGGCATTTGAGAGTTGGGACATGGGGGTTTTGACAACTGGCCCTTGGGGTTTTGGTGGAAGGGTGGGATGCTGGTTGCTTTTTTGGGACATAAGTTTAGCCACGGTGGCAGGCCGGGTGCACTGGCCCCAGACAGTTGGCAGCAGTGGTATTAGGAAGAGCACTCTCAGGGCAGCCCTGCCAACAGAAACGGGACGGCAGACCTGAG... | TTTTAGAGCTCCCAGGTGGTTCTAACACGCAGCCTGGGCTGATACCTGCTGCTCCATCCCACTGCAGCCCAGATCAGCACCGAACATCAGCATCTGCGTGACTCACACAGGTGTGGCATTTGAGAGTTGGGACATGGGGGTTTTGACAACTGGCCCTTGGGGTTTTGGTGGAAGGGTGGGATGCTGGTTGCTTTTTTGGGACATAAGTTTAGCCACGGTGGCAGGCCGGGTGCACTGGCCCCAGACAGTTGGCAGCAGTGGTATTAGGAAGAGCACTCTCAGGGCAGCCCTGCCAACAGAAACGGGACGGCAGACCTGAG... |
Task1_train_8459 | A variant found in Chromosome 4 affects WDR1 (WD repeat domain 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Lazy leukocyte syndrome | CCTGTTTCCGGGAGGGCCCAGAGGCATGACTCACCCGAGGGGGGCACAGCCACCTAGCTCTGTGCCAGGCCACAGCCCTTTCTATTTCTCCCAGGTCCTCAGGCAGGGCCCATGGTTGTGGGTTCCACAAAAGACTTCAAGACACATGGTGGTACCCACCCTGGAGCTGGGCTAGCTGGGCAGACATTTGTACCCAACACTCCTGGGCCAGGGCAGTGGGGTGAAGTCCTTTCTGAAGTTAGAAAGGACAACTAAAGAGAAAGAATGTTCTGGACAAGTCCCCAAGCAAGCACACAGGGGCACAGCAGCCTGGTGAAGAA... | CCTGTTTCCGGGAGGGCCCAGAGGCATGACTCACCCGAGGGGGGCACAGCCACCTAGCTCTGTGCCAGGCCACAGCCCTTTCTATTTCTCCCAGGTCCTCAGGCAGGGCCCATGGTTGTGGGTTCCACAAAAGACTTCAAGACACATGGTGGTACCCACCCTGGAGCTGGGCTAGCTGGGCAGACATTTGTACCCAACACTCCTGGGCCAGGGCAGTGGGGTGAAGTCCTTTCTGAAGTTAGAAAGGACAACTAAAGAGAAAGAATGTTCTGGACAAGTCCCCAAGCAAGCACACAGGGGCACAGCAGCCTGGTGAAGAA... |
Task1_train_8460 | A mutation in WDR1 (WD repeat domain 1), located on Chromosome 4, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Intellectual developmental disorder 61 | GCACAGCCACCTAGCTCTGTGCCAGGCCACAGCCCTTTCTATTTCTCCCAGGTCCTCAGGCAGGGCCCATGGTTGTGGGTTCCACAAAAGACTTCAAGACACATGGTGGTACCCACCCTGGAGCTGGGCTAGCTGGGCAGACATTTGTACCCAACACTCCTGGGCCAGGGCAGTGGGGTGAAGTCCTTTCTGAAGTTAGAAAGGACAACTAAAGAGAAAGAATGTTCTGGACAAGTCCCCAAGCAAGCACACAGGGGCACAGCAGCCTGGTGAAGAAGACAGGCTCCAGCCCACCCCTGGAACAAACTGGTGCCCCTGAC... | GCACAGCCACCTAGCTCTGTGCCAGGCCACAGCCCTTTCTATTTCTCCCAGGTCCTCAGGCAGGGCCCATGGTTGTGGGTTCCACAAAAGACTTCAAGACACATGGTGGTACCCACCCTGGAGCTGGGCTAGCTGGGCAGACATTTGTACCCAACACTCCTGGGCCAGGGCAGTGGGGTGAAGTCCTTTCTGAAGTTAGAAAGGACAACTAAAGAGAAAGAATGTTCTGGACAAGTCCCCAAGCAAGCACACAGGGGCACAGCAGCCTGGTGAAGAAGACAGGCTCCAGCCCACCCCTGGAACAAACTGGTGCCCCTGAC... |
Task1_train_8461 | The gene WDR1 (WD repeat domain 1) is located on Chromosome 4, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Lazy leukocyte syndrome | CTGGCTGCTGGGCTCCTCCCCTCACTCCTACAAAGCTGGGGCAGGAAAATGGGCATCACAGATGCTCCAGACCTGCCAGGTGGCTCTCCTACTTCAAATTCATAGTCAAAACCCTCAGATGCTGCTGGCCCCGGCACACCCCCGTCTTGCAGAAGGGAGAAGTGAGGAGGCTTGGCAAGGCCTGGGTGCCTAAGGCGGGGCGCATGCACGGCATGGGCCTCTGAGATGCTGCCAGCTACACCCAAAGCCTGCCGCATTTCTGGCACATTTCTTCCACAAAGTATCTTTCAGTCTTCTAACCGTTTGTCACTTTGCAGGCG... | CTGGCTGCTGGGCTCCTCCCCTCACTCCTACAAAGCTGGGGCAGGAAAATGGGCATCACAGATGCTCCAGACCTGCCAGGTGGCTCTCCTACTTCAAATTCATAGTCAAAACCCTCAGATGCTGCTGGCCCCGGCACACCCCCGTCTTGCAGAAGGGAGAAGTGAGGAGGCTTGGCAAGGCCTGGGTGCCTAAGGCGGGGCGCATGCACGGCATGGGCCTCTGAGATGCTGCCAGCTACACCCAAAGCCTGCCGCATTTCTGGCACATTTCTTCCACAAAGTATCTTTCAGTCTTCTAACCGTTTGTCACTTTGCAGGCG... |
Task1_train_8462 | A mutation found in WDR1 (WD repeat domain 1) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Lazy leukocyte syndrome | GACTCAGTGCCTGATCTACATCCAGCCCAGGGAGGGCTATATTAGTAGCATCTCGTGCTGACCTGGCATTGCAGAAACTTAAAAATAATTGAGAAGGGAAACAGGGTAACCCCTGAGAAGAAAATGGCAAACCACGGGGAAGGGGTAAGAATACAGAGCTCAGAAACAGGCAGAATGGGTTTCACAAGCTGGGAAATGCTTTCTGCAAAGGGGTGCCTGTCCCTGAATGACCACTCCATTAGAAGCAGCTCCAGTTACTGGCCTGCCTCACCTTGCTAAGTCTGACTCCTCTTTAGAGTAACGGACCCATGTGGGGTGGA... | GACTCAGTGCCTGATCTACATCCAGCCCAGGGAGGGCTATATTAGTAGCATCTCGTGCTGACCTGGCATTGCAGAAACTTAAAAATAATTGAGAAGGGAAACAGGGTAACCCCTGAGAAGAAAATGGCAAACCACGGGGAAGGGGTAAGAATACAGAGCTCAGAAACAGGCAGAATGGGTTTCACAAGCTGGGAAATGCTTTCTGCAAAGGGGTGCCTGTCCCTGAATGACCACTCCATTAGAAGCAGCTCCAGTTACTGGCCTGCCTCACCTTGCTAAGTCTGACTCCTCTTTAGAGTAACGGACCCATGTGGGGTGGA... |
Task1_train_8463 | A mutation on Chromosome 4 affecting CC2D2A (coiled-coil and C2 domain containing 2A) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Joubert syndrome 9 | ACAGCCATATTTCAGCCAAAGATAGCTGCAAATTGTAATTTTTCTTTAGCTGTAATTATAAAATTGAAAAAAAAAAGGTTAGTTTTCAGGACAAGTGTAAGACTGTGTGATCTTTGAGAGCAGGGACCCTATTGCCATTGTATATTTGGTCCCTACAAGAGCACCTGCCACTTAGTATCTGCTCAGTTAATATTGGTTAACAAATTCAAATATGCTACCCCACAAAAATAATGGCTGTCTCCCAGAAATTCCAGTGTTTGTGCTTTCGAATTCCATCTCCTAGGCTGAGCCTCCCACAGAAGCAGTACAGAAATCCTTGC... | ACAGCCATATTTCAGCCAAAGATAGCTGCAAATTGTAATTTTTCTTTAGCTGTAATTATAAAATTGAAAAAAAAAAGGTTAGTTTTCAGGACAAGTGTAAGACTGTGTGATCTTTGAGAGCAGGGACCCTATTGCCATTGTATATTTGGTCCCTACAAGAGCACCTGCCACTTAGTATCTGCTCAGTTAATATTGGTTAACAAATTCAAATATGCTACCCCACAAAAATAATGGCTGTCTCCCAGAAATTCCAGTGTTTGTGCTTTCGAATTCCATCTCCTAGGCTGAGCCTCCCACAGAAGCAGTACAGAAATCCTTGC... |
Task1_train_8464 | This variant impacts the gene CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4. Is the change likely to result in a pathogenic outcome? | Pathogenic; Meckel-Gruber syndrome | ACAGCCATATTTCAGCCAAAGATAGCTGCAAATTGTAATTTTTCTTTAGCTGTAATTATAAAATTGAAAAAAAAAAGGTTAGTTTTCAGGACAAGTGTAAGACTGTGTGATCTTTGAGAGCAGGGACCCTATTGCCATTGTATATTTGGTCCCTACAAGAGCACCTGCCACTTAGTATCTGCTCAGTTAATATTGGTTAACAAATTCAAATATGCTACCCCACAAAAATAATGGCTGTCTCCCAGAAATTCCAGTGTTTGTGCTTTCGAATTCCATCTCCTAGGCTGAGCCTCCCACAGAAGCAGTACAGAAATCCTTGC... | ACAGCCATATTTCAGCCAAAGATAGCTGCAAATTGTAATTTTTCTTTAGCTGTAATTATAAAATTGAAAAAAAAAAGGTTAGTTTTCAGGACAAGTGTAAGACTGTGTGATCTTTGAGAGCAGGGACCCTATTGCCATTGTATATTTGGTCCCTACAAGAGCACCTGCCACTTAGTATCTGCTCAGTTAATATTGGTTAACAAATTCAAATATGCTACCCCACAAAAATAATGGCTGTCTCCCAGAAATTCCAGTGTTTGTGCTTTCGAATTCCATCTCCTAGGCTGAGCCTCCCACAGAAGCAGTACAGAAATCCTTGC... |
Task1_train_8465 | This variant affects gene CC2D2A (coiled-coil and C2 domain containing 2A) located on Chromosome 4. Evaluate its biological effect and specify any disease association. | Pathogenic; Familial aplasia of the vermis | ACAGCCATATTTCAGCCAAAGATAGCTGCAAATTGTAATTTTTCTTTAGCTGTAATTATAAAATTGAAAAAAAAAAGGTTAGTTTTCAGGACAAGTGTAAGACTGTGTGATCTTTGAGAGCAGGGACCCTATTGCCATTGTATATTTGGTCCCTACAAGAGCACCTGCCACTTAGTATCTGCTCAGTTAATATTGGTTAACAAATTCAAATATGCTACCCCACAAAAATAATGGCTGTCTCCCAGAAATTCCAGTGTTTGTGCTTTCGAATTCCATCTCCTAGGCTGAGCCTCCCACAGAAGCAGTACAGAAATCCTTGC... | ACAGCCATATTTCAGCCAAAGATAGCTGCAAATTGTAATTTTTCTTTAGCTGTAATTATAAAATTGAAAAAAAAAAGGTTAGTTTTCAGGACAAGTGTAAGACTGTGTGATCTTTGAGAGCAGGGACCCTATTGCCATTGTATATTTGGTCCCTACAAGAGCACCTGCCACTTAGTATCTGCTCAGTTAATATTGGTTAACAAATTCAAATATGCTACCCCACAAAAATAATGGCTGTCTCCCAGAAATTCCAGTGTTTGTGCTTTCGAATTCCATCTCCTAGGCTGAGCCTCCCACAGAAGCAGTACAGAAATCCTTGC... |
Task1_train_8466 | This variant affects gene CC2D2A (coiled-coil and C2 domain containing 2A) located on Chromosome 4. Evaluate its biological effect and specify any disease association. | Pathogenic; COACH syndrome 2 | CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTA... | CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTA... |
Task1_train_8467 | The gene CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Meckel syndrome, type 6 | CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTA... | CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTA... |
Task1_train_8468 | Consider a variant on Chromosome 4 in gene CC2D2A (coiled-coil and C2 domain containing 2A). Determine its clinical classification and disease relevance. | Pathogenic; Joubert syndrome 9 | CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTA... | CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTA... |
Task1_train_8469 | The variant affects gene CC2D2A (coiled-coil and C2 domain containing 2A), which is on Chromosome 4. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Retinitis pigmentosa 93 | CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTA... | CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTA... |
Task1_train_8470 | Gene CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not specified | CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTA... | CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTA... |
Task1_train_8471 | Gene CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Meckel-Gruber syndrome | CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTA... | CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTA... |
Task1_train_8472 | This mutation is located in gene CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Familial aplasia of the vermis | CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTA... | CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTA... |
Task1_train_8473 | This gene mutation involves CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4. Is it associated with any clinical condition, or is it benign? | Pathogenic; Neurodevelopmental disorder | AGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGT... | AGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGT... |
Task1_train_8474 | A mutation on Chromosome 4 affecting CC2D2A (coiled-coil and C2 domain containing 2A) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Joubert syndrome 9 | AGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGT... | AGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGT... |
Task1_train_8475 | Gene CC2D2A (coiled-coil and C2 domain containing 2A), found on Chromosome 4, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Familial aplasia of the vermis | CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTG... | CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTG... |
Task1_train_8476 | An alteration has been detected in CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Meckel-Gruber syndrome | CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTG... | CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTG... |
Task1_train_8477 | A variant on Chromosome 4 in gene CC2D2A (coiled-coil and C2 domain containing 2A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; COACH syndrome 2 | CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTG... | CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTG... |
Task1_train_8478 | A genomic change on Chromosome 4 affects CC2D2A (coiled-coil and C2 domain containing 2A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Retinitis pigmentosa 93 | CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTG... | CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTG... |
Task1_train_8479 | Given a variant located on Chromosome 4 and affecting CC2D2A (coiled-coil and C2 domain containing 2A), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Joubert syndrome 9 | CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTG... | CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTG... |
Task1_train_8480 | A mutation in CC2D2A (coiled-coil and C2 domain containing 2A), located on Chromosome 4, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Meckel syndrome, type 6 | CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTG... | CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTG... |
Task1_train_8481 | This mutation is located in gene CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Joubert syndrome 9 | CACATAAATCCATGCAAAACCTCTCTCTCTATTCCAGGCCCACAGTCCAGTCATTGAATGTTTTCAAAGTCATGAAAATTACACTTAGAATAGATGATGATTTTTCATATTGTTTTTTTTTTCTTTTCCTTCCTTTTTTTCTGCTTTACTTTCTGCATTAAGTTCTGAAGGCTCAGGGTATGTTCTTTCTTCTTTTAATTTCAGTTCCTTCTTGGCTTTAAGATGTTTCTGTATTTGATGGTCCTGGCTGACATGGTGCTCCCATGCTGACTGCTATGGAGACATCAAAGTCTCAGGGAGGACTTACCTCCAGGGGAGGG... | CACATAAATCCATGCAAAACCTCTCTCTCTATTCCAGGCCCACAGTCCAGTCATTGAATGTTTTCAAAGTCATGAAAATTACACTTAGAATAGATGATGATTTTTCATATTGTTTTTTTTTTCTTTTCCTTCCTTTTTTTCTGCTTTACTTTCTGCATTAAGTTCTGAAGGCTCAGGGTATGTTCTTTCTTCTTTTAATTTCAGTTCCTTCTTGGCTTTAAGATGTTTCTGTATTTGATGGTCCTGGCTGACATGGTGCTCCCATGCTGACTGCTATGGAGACATCAAAGTCTCAGGGAGGACTTACCTCCAGGGGAGGG... |
Task1_train_8482 | This gene mutation involves CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4. Is it associated with any clinical condition, or is it benign? | Pathogenic; Meckel-Gruber syndrome | CACATAAATCCATGCAAAACCTCTCTCTCTATTCCAGGCCCACAGTCCAGTCATTGAATGTTTTCAAAGTCATGAAAATTACACTTAGAATAGATGATGATTTTTCATATTGTTTTTTTTTTCTTTTCCTTCCTTTTTTTCTGCTTTACTTTCTGCATTAAGTTCTGAAGGCTCAGGGTATGTTCTTTCTTCTTTTAATTTCAGTTCCTTCTTGGCTTTAAGATGTTTCTGTATTTGATGGTCCTGGCTGACATGGTGCTCCCATGCTGACTGCTATGGAGACATCAAAGTCTCAGGGAGGACTTACCTCCAGGGGAGGG... | CACATAAATCCATGCAAAACCTCTCTCTCTATTCCAGGCCCACAGTCCAGTCATTGAATGTTTTCAAAGTCATGAAAATTACACTTAGAATAGATGATGATTTTTCATATTGTTTTTTTTTTCTTTTCCTTCCTTTTTTTCTGCTTTACTTTCTGCATTAAGTTCTGAAGGCTCAGGGTATGTTCTTTCTTCTTTTAATTTCAGTTCCTTCTTGGCTTTAAGATGTTTCTGTATTTGATGGTCCTGGCTGACATGGTGCTCCCATGCTGACTGCTATGGAGACATCAAAGTCTCAGGGAGGACTTACCTCCAGGGGAGGG... |
Task1_train_8483 | A genomic change on Chromosome 4 affects CC2D2A (coiled-coil and C2 domain containing 2A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Familial aplasia of the vermis | CACATAAATCCATGCAAAACCTCTCTCTCTATTCCAGGCCCACAGTCCAGTCATTGAATGTTTTCAAAGTCATGAAAATTACACTTAGAATAGATGATGATTTTTCATATTGTTTTTTTTTTCTTTTCCTTCCTTTTTTTCTGCTTTACTTTCTGCATTAAGTTCTGAAGGCTCAGGGTATGTTCTTTCTTCTTTTAATTTCAGTTCCTTCTTGGCTTTAAGATGTTTCTGTATTTGATGGTCCTGGCTGACATGGTGCTCCCATGCTGACTGCTATGGAGACATCAAAGTCTCAGGGAGGACTTACCTCCAGGGGAGGG... | CACATAAATCCATGCAAAACCTCTCTCTCTATTCCAGGCCCACAGTCCAGTCATTGAATGTTTTCAAAGTCATGAAAATTACACTTAGAATAGATGATGATTTTTCATATTGTTTTTTTTTTCTTTTCCTTCCTTTTTTTCTGCTTTACTTTCTGCATTAAGTTCTGAAGGCTCAGGGTATGTTCTTTCTTCTTTTAATTTCAGTTCCTTCTTGGCTTTAAGATGTTTCTGTATTTGATGGTCCTGGCTGACATGGTGCTCCCATGCTGACTGCTATGGAGACATCAAAGTCTCAGGGAGGACTTACCTCCAGGGGAGGG... |
Task1_train_8484 | A mutation found in CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Meckel-Gruber syndrome | AGGCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTAT... | AGGCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTAT... |
Task1_train_8485 | This alteration occurs within gene CC2D2A (coiled-coil and C2 domain containing 2A) located on Chromosome 4. Is it associated with a disease or is it a benign variant? | Pathogenic; Familial aplasia of the vermis | AGGCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTAT... | AGGCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTAT... |
Task1_train_8486 | With a mutation on Chromosome 4 in gene CC2D2A (coiled-coil and C2 domain containing 2A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Familial aplasia of the vermis | CTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGGTACCTGTTGCATTAAATGTTCCAATTACCTTTGTCTGAAACCTTAGCTGTGAAAGGTGATAGT... | CTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGGTACCTGTTGCATTAAATGTTCCAATTACCTTTGTCTGAAACCTTAGCTGTGAAAGGTGATAGT... |
Task1_train_8487 | A variant found in Chromosome 4 affects CC2D2A (coiled-coil and C2 domain containing 2A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Meckel-Gruber syndrome | CTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGGTACCTGTTGCATTAAATGTTCCAATTACCTTTGTCTGAAACCTTAGCTGTGAAAGGTGATAGT... | CTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGGTACCTGTTGCATTAAATGTTCCAATTACCTTTGTCTGAAACCTTAGCTGTGAAAGGTGATAGT... |
Task1_train_8488 | The gene CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Joubert syndrome 9 | AATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTG... | AATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTG... |
Task1_train_8489 | Chromosome 4 houses a mutation in gene CC2D2A (coiled-coil and C2 domain containing 2A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not specified | AATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTG... | AATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTG... |
Task1_train_8490 | A sequence alteration has been identified in CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4. Is it disease-inducing or harmless? | Pathogenic; Joubert syndrome 9 | CCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCC... | CCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCC... |
Task1_train_8491 | A mutation on Chromosome 4 affecting CC2D2A (coiled-coil and C2 domain containing 2A) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Meckel-Gruber syndrome | CCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCC... | CCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCC... |
Task1_train_8492 | Given this variant in gene CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Familial aplasia of the vermis | CCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCC... | CCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCC... |
Task1_train_8493 | This variant affects the gene CC2D2A (coiled-coil and C2 domain containing 2A) found on Chromosome 4. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Joubert syndrome 9 | AATAATTTTAAAATAGCTAACAATTATTGAGCACTTACTACATACCAGGCATTTTTCTAAGAGGTACAGATTAATTAACTCACTGAATCAACTCAACCTTGAGGTAGATACTATTTATTATCCCACTGTTAAACAGAAGGAAACCGAGGCATACAGAAGTTACATTAATCATCCAAGGTCACACAAATAGTAAATGTTGGAGCCAAAATTAAAACACAAGTGGTCTGGTTCCAGAACCAACATGCTACGCTGCCTCACCAACACAAGGGCTATCTCAGAGAATGCGCATTGCTGTGGATGCAGAGATGAATGGACACTCA... | AATAATTTTAAAATAGCTAACAATTATTGAGCACTTACTACATACCAGGCATTTTTCTAAGAGGTACAGATTAATTAACTCACTGAATCAACTCAACCTTGAGGTAGATACTATTTATTATCCCACTGTTAAACAGAAGGAAACCGAGGCATACAGAAGTTACATTAATCATCCAAGGTCACACAAATAGTAAATGTTGGAGCCAAAATTAAAACACAAGTGGTCTGGTTCCAGAACCAACATGCTACGCTGCCTCACCAACACAAGGGCTATCTCAGAGAATGCGCATTGCTGTGGATGCAGAGATGAATGGACACTCA... |
Task1_train_8494 | This variant impacts the gene CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4. Is the change likely to result in a pathogenic outcome? | Pathogenic; Joubert syndrome 9 | GCATCTGTTATAGCTCTTAGGATACACATACTTTCTATTTATAGGACTATTTCCCATCTCAACTCATATACAACCCTTAAGGACAGGACTGCATGTTAATTTTGAATCCCCAGGGAGTAGCCCATTATTAGACATTAACTATGCCTGGATAATCACAACTCCATCAACAAAAATATAGTTATACAATCATCTGAATCCCCACTACATACTACATACATTTTTTAACAAGGGAAAAGTGAGTCACCAAAAAATGGAATTTATGTTTTGTGAACAGGATTGAAAAAATACTAAAAGAAAAAATCATGGACTGGAGGCCACGC... | GCATCTGTTATAGCTCTTAGGATACACATACTTTCTATTTATAGGACTATTTCCCATCTCAACTCATATACAACCCTTAAGGACAGGACTGCATGTTAATTTTGAATCCCCAGGGAGTAGCCCATTATTAGACATTAACTATGCCTGGATAATCACAACTCCATCAACAAAAATATAGTTATACAATCATCTGAATCCCCACTACATACTACATACATTTTTTAACAAGGGAAAAGTGAGTCACCAAAAAATGGAATTTATGTTTTGTGAACAGGATTGAAAAAATACTAAAAGAAAAAATCATGGACTGGAGGCCACGC... |
Task1_train_8495 | Consider this mutation in PROM1 (prominin 1) on Chromosome 4. Is this a benign change or a disease-causing variant? | Pathogenic; Retinal dystrophy | TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGT... | TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGT... |
Task1_train_8496 | A genomic change on Chromosome 4 affects PROM1 (prominin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Retinal macular dystrophy type 2 | TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGT... | TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGT... |
Task1_train_8497 | This genomic variant is located on Chromosome 4, within the PROM1 (prominin 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cone-rod dystrophy 12 | TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGT... | TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGT... |
Task1_train_8498 | Gene PROM1 (prominin 1) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Retinal macular dystrophy type 2 | TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGT... | TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGT... |
Task1_train_8499 | The gene PROM1 (prominin 1) is located on Chromosome 4, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cone-rod dystrophy 12 | TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGT... | TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGT... |
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