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_15500 | Gene PAX6 (paired box 6), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | ATATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCC... | ATATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCC... |
Task1_train_15501 | Given this variant in gene PAX6 (paired box 6) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | ATATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCC... | ATATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCC... |
Task1_train_15502 | This alteration in PAX6 (paired box 6) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | TATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCA... | TATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCA... |
Task1_train_15503 | The variant affects gene PAX6 (paired box 6), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Aniridia 1 | TATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCA... | TATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCA... |
Task1_train_15504 | This gene mutation involves PAX6 (paired box 6) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Irido-corneo-trabecular dysgenesis | TATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCA... | TATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCA... |
Task1_train_15505 | A variant found in Chromosome 11 affects PAX6 (paired box 6). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Aniridia 1 | TGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACC... | TGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACC... |
Task1_train_15506 | This variant lies on Chromosome 11 and affects the gene PAX6 (paired box 6). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Aniridia 1 | TGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACC... | TGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACC... |
Task1_train_15507 | This variant lies on Chromosome 11 and affects the gene PAX6 (paired box 6). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Developmental cataract | GCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAG... | GCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAG... |
Task1_train_15508 | Here is a mutation in PAX6 (paired box 6) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Microphthalmia | GCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAG... | GCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAG... |
Task1_train_15509 | Here is a mutation in PAX6 (paired box 6) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Aniridia 1 | GTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATA... | GTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATA... |
Task1_train_15510 | The gene PAX6 (paired box 6) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Irido-corneo-trabecular dysgenesis | GTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATA... | GTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATA... |
Task1_train_15511 | A change on Chromosome 11 affects gene PAX6 (paired box 6). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Irido-corneo-trabecular dysgenesis | GTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATA... | GTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATA... |
Task1_train_15512 | Chromosome 11 houses a mutation in gene PAX6 (paired box 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Irido-corneo-trabecular dysgenesis | TTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATAC... | TTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATAC... |
Task1_train_15513 | A variant has been detected on Chromosome 11 in PAX6 (paired box 6). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Aniridia 1 | TTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATAC... | TTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATAC... |
Task1_train_15514 | An alteration has been detected in PAX6 (paired box 6) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Irido-corneo-trabecular dysgenesis | CCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATG... | CCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATG... |
Task1_train_15515 | This sequence change occurs on Chromosome 11, altering PAX6 (paired box 6). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Aniridia 1 | CCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATG... | CCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATG... |
Task1_train_15516 | A variant found in Chromosome 11 affects PAX6 (paired box 6). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Irido-corneo-trabecular dysgenesis | CCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATG... | CCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATG... |
Task1_train_15517 | Assess the clinical impact of this variant on gene PAX6 (paired box 6), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Irido-corneo-trabecular dysgenesis | CCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTG... | CCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTG... |
Task1_train_15518 | Gene PAX6 (paired box 6), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Aniridia 1 | CCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTG... | CCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTG... |
Task1_train_15519 | The following genetic variant occurs in PAX6 (paired box 6) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Irido-corneo-trabecular dysgenesis | TGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCC... | TGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCC... |
Task1_train_15520 | Gene PAX6 (paired box 6), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Aniridia 1 | CGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCA... | CGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCA... |
Task1_train_15521 | A variant was discovered in gene PAX6 (paired box 6), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Aniridia 1 | CGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCA... | CGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCA... |
Task1_train_15522 | This alteration in PAX6 (paired box 6) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Irido-corneo-trabecular dysgenesis | CGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCA... | CGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCA... |
Task1_train_15523 | Here’s a variant in PAX6 (paired box 6) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Aniridia 1 | CTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGC... | CTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGC... |
Task1_train_15524 | Gene PAX6 (paired box 6) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Irido-corneo-trabecular dysgenesis | CTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGC... | CTCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGC... |
Task1_train_15525 | Given this variant in gene PAX6 (paired box 6) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Aniridia 1 | TCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCA... | TCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCA... |
Task1_train_15526 | Here’s a variant in PAX6 (paired box 6) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Aniridia 1 | TCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCA... | TCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCA... |
Task1_train_15527 | Assess the clinical impact of this variant on gene PAX6 (paired box 6), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Irido-corneo-trabecular dysgenesis | TCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCA... | TCAGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCA... |
Task1_train_15528 | The gene PAX6 (paired box 6) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Irido-corneo-trabecular dysgenesis | AGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACA... | AGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACA... |
Task1_train_15529 | The following genetic variant occurs in PAX6 (paired box 6) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Aniridia 1 | AGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACA... | AGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACA... |
Task1_train_15530 | An alteration has been detected in PAX6 (paired box 6) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Irido-corneo-trabecular dysgenesis | AGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACA... | AGACGAGATTGAACTGCACTTGTTTCCCCTTCGAGGGGAGCCGCGTTTTCAGGGTAGCCGAAGGCTTGGGGCTGAGGGGGGGCCCTCACCAAGGCGCGGGTGGGGGCCGGAGCCTCAACTCGATGAGAAGTGACAGGCGTTTGGGGGATCTGGGCTCCGGCCGGGACCAGCGCAAGCAGGGACTTTGCGGGGACACCGCTTCTCCAACAGAGCAAGGCCTGGCCCACGTTTCCGGTTTCTCCTAACTTCCTTTTATTGCCTTCCTTTGCTTCGCAAGTTCCATCTACCCCTCCAGCTACAGAGCCCCACCTCTAGGCACA... |
Task1_train_15531 | Located on Chromosome 11, this mutation impacts WT1 (WT1 transcription factor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Nephrotic syndrome, type 4 | GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTA... | GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTA... |
Task1_train_15532 | This variant impacts the gene WT1 (WT1 transcription factor) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Drash syndrome | GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTA... | GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTA... |
Task1_train_15533 | This gene mutation involves WT1 (WT1 transcription factor) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Frasier syndrome | GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTA... | GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTA... |
Task1_train_15534 | A change on Chromosome 11 affects gene WT1 (WT1 transcription factor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Wilms tumor 1 | GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTA... | GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTA... |
Task1_train_15535 | The gene WT1 (WT1 transcription factor) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; 11p partial monosomy syndrome | GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTA... | GTAAAACAGTCTCCATAGCTAGGCTTCCATCTGTTTGAGACGCATTTTAAATGAAGAAATAAAACCCGGAATGCATGCAAGCCCCAAGATAATGGAGCTGAGAGGGGCTGCACCAAATTAATCTCCTTATTTACAATTCAAAAACCATACACCAGAACAGAAAGAGAGTTTATAGTTTATAGATAATATAGATCTTTGCTTTCACACTCAGTTGCCCTGGAAAGGCTGAGCAGTTTTCAATCTGCTGAGCTGATTTATAGCAAGTACAGCTGTAAATTCAATTGTACTAGGTGTTCAGCCTATGCCCTCCCAGTGATGTA... |
Task1_train_15536 | Here is a genetic alteration in WT1 (WT1 transcription factor) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Nephrotic syndrome, type 4 | CACACAACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCC... | CACACAACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCC... |
Task1_train_15537 | This is a variant in WT1 (WT1 transcription factor), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; WT1-related disorder | AACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGA... | AACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGA... |
Task1_train_15538 | Here is a variant affecting WT1 (WT1 transcription factor) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Kidney disorder | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... |
Task1_train_15539 | This variant impacts the gene WT1 (WT1 transcription factor) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Drash syndrome | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... |
Task1_train_15540 | This genomic variant is located on Chromosome 11, within the WT1 (WT1 transcription factor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Frasier syndrome | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... |
Task1_train_15541 | Assess the clinical impact of this variant on gene WT1 (WT1 transcription factor), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Wilms tumor 1 | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... |
Task1_train_15542 | This sequence change occurs on Chromosome 11, altering WT1 (WT1 transcription factor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; 11p partial monosomy syndrome | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... |
Task1_train_15543 | A genetic alteration is present in WT1 (WT1 transcription factor) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Drash syndrome | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... |
Task1_train_15544 | A variant on Chromosome 11 in gene WT1 (WT1 transcription factor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Mesothelioma, malignant | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... |
Task1_train_15545 | Consider this mutation in WT1 (WT1 transcription factor) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Drash syndrome | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... |
Task1_train_15546 | Here is a variant affecting WT1 (WT1 transcription factor) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Meacham syndrome | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... |
Task1_train_15547 | A mutation found in WT1 (WT1 transcription factor) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Frasier syndrome | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... |
Task1_train_15548 | An alteration has been detected in WT1 (WT1 transcription factor) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Wilms tumor 1 | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... |
Task1_train_15549 | Gene WT1 (WT1 transcription factor), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Nephrotic syndrome, type 4 | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... |
Task1_train_15550 | With a mutation on Chromosome 11 in gene WT1 (WT1 transcription factor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Wilms tumor 1 | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... |
Task1_train_15551 | A variant on Chromosome 11 in gene WT1 (WT1 transcription factor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Nephrotic syndrome, type 4 | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... | ACCTCATGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAG... |
Task1_train_15552 | Gene WT1 (WT1 transcription factor), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Frasier syndrome | TGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGG... | TGTACTCCTTACAACTGCCCGTAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGG... |
Task1_train_15553 | The following genetic variant occurs in WT1 (WT1 transcription factor) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Wilms tumor 1 | TAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAG... | TAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAG... |
Task1_train_15554 | Here’s a variant in WT1 (WT1 transcription factor) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; 11p partial monosomy syndrome | TAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAG... | TAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAG... |
Task1_train_15555 | This alteration occurs within gene WT1 (WT1 transcription factor) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Drash syndrome | TAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAG... | TAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAG... |
Task1_train_15556 | An alteration has been detected in WT1 (WT1 transcription factor) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Frasier syndrome | TAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAG... | TAGGGGAAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAG... |
Task1_train_15557 | Gene WT1 (WT1 transcription factor) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Nephrotic syndrome, type 4 | AAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAAT... | AAGCGTTATTATCCCCACTCTACAGATGAGGTAGGACATCTATTGAGGGCAGATCCAGGCAGAACTCAAATCTCCAGGTCTGTCGAATTCCAGAGCCCGTGCTCTTCCCTGTATCACACCTCCCAGGCCTAGCCATGATGGAAAAGCAGCTGCAGCTCCATCTTAAGGAAGAATGCACAGAAGCTAAACCCTGTGCCACCTGACGGATCTTCTCAGATACTGCTGGTCCCACTTGGCCTTCTCTGAGAACTACTGGTTTGGACAAGCACTGAGAAATGTCCCAGGAGGGCTGGTGTCCCAGGGTCAGACTGGAGGCCAAT... |
Task1_train_15558 | A variant found in Chromosome 11 affects WT1 (WT1 transcription factor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Wilms tumor 1 | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... |
Task1_train_15559 | A variant found in Chromosome 11 affects WT1 (WT1 transcription factor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; 11p partial monosomy syndrome | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... |
Task1_train_15560 | A variant found in Chromosome 11 affects WT1 (WT1 transcription factor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Frasier syndrome | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... |
Task1_train_15561 | This variant lies on Chromosome 11 and affects the gene WT1 (WT1 transcription factor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Drash syndrome | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... |
Task1_train_15562 | The gene WT1 (WT1 transcription factor) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Drash syndrome | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... |
Task1_train_15563 | This variant affects the gene WT1 (WT1 transcription factor) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Wilms tumor 1 | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... |
Task1_train_15564 | A variant on Chromosome 11 in gene WT1 (WT1 transcription factor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; 11p partial monosomy syndrome | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... |
Task1_train_15565 | A sequence alteration has been identified in WT1 (WT1 transcription factor) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Frasier syndrome | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... |
Task1_train_15566 | This is a variant in WT1 (WT1 transcription factor), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Drash syndrome | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... |
Task1_train_15567 | This alteration in WT1 (WT1 transcription factor) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Frasier syndrome | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... | ACTCTCCAACCCCACCTCCAGCAGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACAT... |
Task1_train_15568 | Here’s a variant in WT1 (WT1 transcription factor) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Nephrotic syndrome, type 4 | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... |
Task1_train_15569 | Located on Chromosome 11, this mutation impacts WT1 (WT1 transcription factor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; 11p partial monosomy syndrome | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... |
Task1_train_15570 | This variant impacts the gene WT1 (WT1 transcription factor) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Mesothelioma, malignant | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... |
Task1_train_15571 | The gene WT1 (WT1 transcription factor) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Frasier syndrome | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... |
Task1_train_15572 | Chromosome 11 houses a mutation in gene WT1 (WT1 transcription factor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Wilms tumor 1 | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... |
Task1_train_15573 | A variant affecting Chromosome 11, within the gene WT1 (WT1 transcription factor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Meacham syndrome | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... |
Task1_train_15574 | The variant affects gene WT1 (WT1 transcription factor), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Drash syndrome | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... |
Task1_train_15575 | Assess the clinical impact of this variant on gene WT1 (WT1 transcription factor), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Aniridia 1 | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... |
Task1_train_15576 | A sequence alteration has been identified in WT1 (WT1 transcription factor) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; 11p partial monosomy syndrome | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... |
Task1_train_15577 | The gene WT1 (WT1 transcription factor) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Frasier syndrome | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... |
Task1_train_15578 | Here is a mutation in WT1 (WT1 transcription factor) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Wilms tumor 1 | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... |
Task1_train_15579 | Given a variant located on Chromosome 11 and affecting WT1 (WT1 transcription factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Drash syndrome | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... |
Task1_train_15580 | Consider this mutation in WT1 (WT1 transcription factor) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Wilms tumor 1 | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... |
Task1_train_15581 | A variant was discovered in gene WT1 (WT1 transcription factor), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Nephrotic syndrome, type 4 | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... |
Task1_train_15582 | Assess the clinical impact of this variant on gene WT1 (WT1 transcription factor), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Frasier syndrome | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... |
Task1_train_15583 | Gene WT1 (WT1 transcription factor), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Wilms tumor 1 | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... |
Task1_train_15584 | This sequence change occurs on Chromosome 11, altering WT1 (WT1 transcription factor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Drash syndrome | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... |
Task1_train_15585 | This gene mutation involves WT1 (WT1 transcription factor) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Nephrotic syndrome, type 4 | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... | AGTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTT... |
Task1_train_15586 | Located on Chromosome 11, this mutation impacts WT1 (WT1 transcription factor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Nephrotic syndrome, type 4 | GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTT... | GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTT... |
Task1_train_15587 | The gene WT1 (WT1 transcription factor), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Frasier syndrome | GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTT... | GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTT... |
Task1_train_15588 | Located on Chromosome 11, this mutation impacts WT1 (WT1 transcription factor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Wilms tumor 1 | GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTT... | GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTT... |
Task1_train_15589 | Gene WT1 (WT1 transcription factor) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; 11p partial monosomy syndrome | GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTT... | GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTT... |
Task1_train_15590 | A mutation on Chromosome 11 affecting WT1 (WT1 transcription factor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Drash syndrome | GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTT... | GTGCTGTTAAGGGCTGGCTCCTAATGGACTAATCCCAACCCTGTCTCTTGTCATCTTCATTCCTCTCAGTCTCTCAGTGGTGTTCAGCTTTGCTGACTTTGATTCTCTACTTGACTCTCCATGCTCCCTGGACTGCAGAGTAAATATCTGCCCCTTCTCCAATAAAGAAGCAAGTGGGACAAGGTGGGCTGGAAGCAGACAGAACTGGATTTGCTCCTTACTAGCTTTGTGACTTTAGATAAGCCATTGAATTATTATTGCCTCAGTCTCCTCATCTGTAAGATGGGAATAAAACATGCCTACCTCATTTTTTTTTGTTT... |
Task1_train_15591 | The variant affects gene WT1 (WT1 transcription factor), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Drash syndrome | ATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATA... | ATTGAGTCTGATTTCCTTCCCCTGCCTTTGAGCTTCTGCTCATCTATCACTTTCTCTGCCCAAACTACCAGCCTCCACTGGCTAACCCAAGCTGTTCTTCCTCTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATA... |
Task1_train_15592 | A genetic alteration is present in WT1 (WT1 transcription factor) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Mesothelioma | CATTTCCCTTAATTCATCCTAGAAGCAGTGCACATGGGAACAGGAGTTGTTAATCTCAGTAAGGGTCCCGGTGAAGGATTCTGATTGTATTCGTCAGGGGAGAGGCTTGATGTCTCCCTAAACCGTCGTCAGATTTCCGTATTTCTGTAACCCTTGCCTTTATTGCTCTCCATTGAAAGGCTTGGGAGTAGGGAGCACACTGTTCTTTCTTCGTGACACTTCTGGAAACATTAATCAGAACATCTCAGAGCTACTTGCCCCACGTATCATGTGGGGTCTGGCCCAGATACAACTTATATCTAGAGTACTGACCATTCTGG... | CATTTCCCTTAATTCATCCTAGAAGCAGTGCACATGGGAACAGGAGTTGTTAATCTCAGTAAGGGTCCCGGTGAAGGATTCTGATTGTATTCGTCAGGGGAGAGGCTTGATGTCTCCCTAAACCGTCGTCAGATTTCCGTATTTCTGTAACCCTTGCCTTTATTGCTCTCCATTGAAAGGCTTGGGAGTAGGGAGCACACTGTTCTTTCTTCGTGACACTTCTGGAAACATTAATCAGAACATCTCAGAGCTACTTGCCCCACGTATCATGTGGGGTCTGGCCCAGATACAACTTATATCTAGAGTACTGACCATTCTGG... |
Task1_train_15593 | This gene mutation involves LOC107982234, WT1 (WT1/WT1-AS bi-directional promoter region| WT1 transcription factor) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Nephrotic syndrome, type 4 | CGCTTCTGCATCTATGGAGTATAACTTCAAGCCGGACCCAATCTCCAGGTTGCCCATCTCAGCTGTCCTCTTATAGACGGGGACACTGAGACCTAGAAACTCCCCAAAAGTAACACCAGCCTGCTAAACAAAGGTGGCGCGATCTGATCAAAGAACACAAGCCTCAGCGACCAGTAAGTTGTCCCAACGCCCCTTGAGTACAAAACACTAATTTCACTAACTAAAAGCATAGAGTGGAGGCAACCCTTGGGTCTGCTTGCGGTTCCTCCACAGGACAGTGATCCCAGATTCTCCCGAAGAAAAGGGCGGTTTCGATTTCT... | CGCTTCTGCATCTATGGAGTATAACTTCAAGCCGGACCCAATCTCCAGGTTGCCCATCTCAGCTGTCCTCTTATAGACGGGGACACTGAGACCTAGAAACTCCCCAAAAGTAACACCAGCCTGCTAAACAAAGGTGGCGCGATCTGATCAAAGAACACAAGCCTCAGCGACCAGTAAGTTGTCCCAACGCCCCTTGAGTACAAAACACTAATTTCACTAACTAAAAGCATAGAGTGGAGGCAACCCTTGGGTCTGCTTGCGGTTCCTCCACAGGACAGTGATCCCAGATTCTCCCGAAGAAAAGGGCGGTTTCGATTTCT... |
Task1_train_15594 | A mutation found in CD59 (CD59 molecule (CD59 blood group)) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | TTTTTGCAGAAAGCAACCCCAAAGTTTAAGGCCATTTATATGACCCTTGTTGATTTGGACAGCTTAACAGCCCCATCTCCCCATTTAGTGGCACTCAGATTTTGCTTTAGAGGACTACCTTCTTCCCAGTGTAGTCTGGCCAAAAAGTGGGTACATGACACAAGATAGCAGTAAGCCAATCTCATCCTAGAATCTCAATCCTGAGAGAGGCTTCCAAAACTGTCGACTCCTGGCTTTCTGGAGTGTGGCTGAATTCCCCACCCCCCCGCCCCCAAAAAAGTTCCCAGAAATTCATTTTCTGCTTAAATTCATCAAAATTG... | TTTTTGCAGAAAGCAACCCCAAAGTTTAAGGCCATTTATATGACCCTTGTTGATTTGGACAGCTTAACAGCCCCATCTCCCCATTTAGTGGCACTCAGATTTTGCTTTAGAGGACTACCTTCTTCCCAGTGTAGTCTGGCCAAAAAGTGGGTACATGACACAAGATAGCAGTAAGCCAATCTCATCCTAGAATCTCAATCCTGAGAGAGGCTTCCAAAACTGTCGACTCCTGGCTTTCTGGAGTGTGGCTGAATTCCCCACCCCCCCGCCCCCAAAAAAGTTCCCAGAAATTCATTTTCTGCTTAAATTCATCAAAATTG... |
Task1_train_15595 | A genomic change on Chromosome 11 affects SLC1A2 (solute carrier family 1 member 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Inborn genetic diseases | AAAGTTGAAGACATCCCATTTTTAATTCTGAGATTATTCCTTTCCACTTTTTATTTTTTTTGGTCTTAACATCTCCTTTGTTTTATGAAGCGATGCTGCTGGTACATGCTAGTTTTTAACTTGTTTATTTATTTATGTTTTAATGTCCTCACTTGGAAGACTAAAAAGCTAGTAGTTCTGTGCCACACTCAAAATGTCTTTTGAATATATTACTGGTAACTGACATGGAGAGTCTGAGAATAACGATTTTGCCCAGTCCTCTCATTTCTCTGAGGTGAAGCATGAAGATCCACATTCCCAGCCTCATGCAGGGATTAGGG... | AAAGTTGAAGACATCCCATTTTTAATTCTGAGATTATTCCTTTCCACTTTTTATTTTTTTTGGTCTTAACATCTCCTTTGTTTTATGAAGCGATGCTGCTGGTACATGCTAGTTTTTAACTTGTTTATTTATTTATGTTTTAATGTCCTCACTTGGAAGACTAAAAAGCTAGTAGTTCTGTGCCACACTCAAAATGTCTTTTGAATATATTACTGGTAACTGACATGGAGAGTCTGAGAATAACGATTTTGCCCAGTCCTCTCATTTCTCTGAGGTGAAGCATGAAGATCCACATTCCCAGCCTCATGCAGGGATTAGGG... |
Task1_train_15596 | A change on Chromosome 11 affects gene SLC1A2 (solute carrier family 1 member 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 41 | ACATCCCATTTTTAATTCTGAGATTATTCCTTTCCACTTTTTATTTTTTTTGGTCTTAACATCTCCTTTGTTTTATGAAGCGATGCTGCTGGTACATGCTAGTTTTTAACTTGTTTATTTATTTATGTTTTAATGTCCTCACTTGGAAGACTAAAAAGCTAGTAGTTCTGTGCCACACTCAAAATGTCTTTTGAATATATTACTGGTAACTGACATGGAGAGTCTGAGAATAACGATTTTGCCCAGTCCTCTCATTTCTCTGAGGTGAAGCATGAAGATCCACATTCCCAGCCTCATGCAGGGATTAGGGAACACCCCGT... | ACATCCCATTTTTAATTCTGAGATTATTCCTTTCCACTTTTTATTTTTTTTGGTCTTAACATCTCCTTTGTTTTATGAAGCGATGCTGCTGGTACATGCTAGTTTTTAACTTGTTTATTTATTTATGTTTTAATGTCCTCACTTGGAAGACTAAAAAGCTAGTAGTTCTGTGCCACACTCAAAATGTCTTTTGAATATATTACTGGTAACTGACATGGAGAGTCTGAGAATAACGATTTTGCCCAGTCCTCTCATTTCTCTGAGGTGAAGCATGAAGATCCACATTCCCAGCCTCATGCAGGGATTAGGGAACACCCCGT... |
Task1_train_15597 | This variant affects gene SLC1A2 (solute carrier family 1 member 2) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | ACATCCCATTTTTAATTCTGAGATTATTCCTTTCCACTTTTTATTTTTTTTGGTCTTAACATCTCCTTTGTTTTATGAAGCGATGCTGCTGGTACATGCTAGTTTTTAACTTGTTTATTTATTTATGTTTTAATGTCCTCACTTGGAAGACTAAAAAGCTAGTAGTTCTGTGCCACACTCAAAATGTCTTTTGAATATATTACTGGTAACTGACATGGAGAGTCTGAGAATAACGATTTTGCCCAGTCCTCTCATTTCTCTGAGGTGAAGCATGAAGATCCACATTCCCAGCCTCATGCAGGGATTAGGGAACACCCCGT... | ACATCCCATTTTTAATTCTGAGATTATTCCTTTCCACTTTTTATTTTTTTTGGTCTTAACATCTCCTTTGTTTTATGAAGCGATGCTGCTGGTACATGCTAGTTTTTAACTTGTTTATTTATTTATGTTTTAATGTCCTCACTTGGAAGACTAAAAAGCTAGTAGTTCTGTGCCACACTCAAAATGTCTTTTGAATATATTACTGGTAACTGACATGGAGAGTCTGAGAATAACGATTTTGCCCAGTCCTCTCATTTCTCTGAGGTGAAGCATGAAGATCCACATTCCCAGCCTCATGCAGGGATTAGGGAACACCCCGT... |
Task1_train_15598 | A variant has been detected on Chromosome 11 in TRIM44 (tripartite motif containing 44). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Aniridia 3 | CAATGTAAAACAGACACCATTCCATCCCCTTTCATCCTTCTTAATACACCTCAGCCTCTCCCTTGACTAGATAAAAACGTAATTTTCCCTCTCCCAAATACAGTGCAAAACAAAAACTCTTCTGTGAATGGAGAGACATGGATATGGGGTAGAGGTGGAGACTTGCCTACATTACCAGCAGCCAGCCGAAAATGCCCTGTGTGTGTAAAATATGTTCCTTCAAAGGGGCATTGTGAGCACTAAATATAATTTGTGCCAAAAATAATAATGAAAGCTTAGTGAATACTCTACAGTGCAGGCATCGTTACATTTAATCCACA... | CAATGTAAAACAGACACCATTCCATCCCCTTTCATCCTTCTTAATACACCTCAGCCTCTCCCTTGACTAGATAAAAACGTAATTTTCCCTCTCCCAAATACAGTGCAAAACAAAAACTCTTCTGTGAATGGAGAGACATGGATATGGGGTAGAGGTGGAGACTTGCCTACATTACCAGCAGCCAGCCGAAAATGCCCTGTGTGTGTAAAATATGTTCCTTCAAAGGGGCATTGTGAGCACTAAATATAATTTGTGCCAAAAATAATAATGAAAGCTTAGTGAATACTCTACAGTGCAGGCATCGTTACATTTAATCCACA... |
Task1_train_15599 | The gene RAG1 (recombination activating 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency | TTTGAGATAGGTGGATGGGATGATGGATTGAAAATACAGCTGCTCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTG... | TTTGAGATAGGTGGATGGGATGATGGATTGAAAATACAGCTGCTCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTG... |
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