ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_9300 | A variant has been detected on Chromosome 5 in ADGRV1 (adhesion G protein-coupled receptor V1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Usher syndrome | ATATTTTACCATAAAAGCAAAGAAAAATTCTACTGCAGTTGGTATTCTTTTGTTTTTATTTTTTTGTTGTTGTTTAGAAGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCAGCCTCGGCCTCCCAAAGT... | ATATTTTACCATAAAAGCAAAGAAAAATTCTACTGCAGTTGGTATTCTTTTGTTTTTATTTTTTTGTTGTTGTTTAGAAGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCAGCCTCGGCCTCCCAAAGT... |
Task1_train_9301 | Given this context: Chromosome 5, gene ADGRV1 (adhesion G protein-coupled receptor V1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Idiopathic generalized epilepsy | TGCCACTGCTGGCTCAGGCAGCCTGCTTTTATTCTCTTATCTGGCCCCACCCACATCCTGCTGATTGGTCCGTTTTACAGAGAGCCGATTGGTCTGTTTTACAGAGCGCTGATTGGTCCATTTTGACAGGGTGCTGACTGGTGCATTTATAATCCCTGAGCTAGACACAAAAGTTCTCCATGTCCCCACTAGATTAGCTAGATACAGAGTGTCAATTGGTGTATTTACAAACCCTGAGCTAGACACAGAGTGCTGATTGGTGCACTTACAAACCTTGAGCTAGATACAGAGTGCTGATTCATGCCTTCACAATCCCTTAG... | TGCCACTGCTGGCTCAGGCAGCCTGCTTTTATTCTCTTATCTGGCCCCACCCACATCCTGCTGATTGGTCCGTTTTACAGAGAGCCGATTGGTCTGTTTTACAGAGCGCTGATTGGTCCATTTTGACAGGGTGCTGACTGGTGCATTTATAATCCCTGAGCTAGACACAAAAGTTCTCCATGTCCCCACTAGATTAGCTAGATACAGAGTGTCAATTGGTGTATTTACAAACCCTGAGCTAGACACAGAGTGCTGATTGGTGCACTTACAAACCTTGAGCTAGATACAGAGTGCTGATTCATGCCTTCACAATCCCTTAG... |
Task1_train_9302 | With a mutation on Chromosome 5 in gene ADGRV1 (adhesion G protein-coupled receptor V1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Usher syndrome type 2C | ACTGCACCACCGAGTTACGATGTCACATGGATGCACACAAGCATCTATCCAACATAAATAATTAGTACTTTTGTTTAGAAGATGGATTAATCAATGATTCTTGCTTTGTATGAATTTTCATTCTTTAACAGGCAGTATTGATTACCCCAGCAACAACACTTTACACAACCCCGCTTATTTGAGTCCACATCCCTATATTAATTATAGAAAGAAAAAAAAAGTTGGATCTAGTAATTTTTAAAAATGAATTAGAACAAAGTTACATAAGCAACAACTCAAAACATGCTTCATAATTACAGATATAAGCAGATGTACATAGA... | ACTGCACCACCGAGTTACGATGTCACATGGATGCACACAAGCATCTATCCAACATAAATAATTAGTACTTTTGTTTAGAAGATGGATTAATCAATGATTCTTGCTTTGTATGAATTTTCATTCTTTAACAGGCAGTATTGATTACCCCAGCAACAACACTTTACACAACCCCGCTTATTTGAGTCCACATCCCTATATTAATTATAGAAAGAAAAAAAAAGTTGGATCTAGTAATTTTTAAAAATGAATTAGAACAAAGTTACATAAGCAACAACTCAAAACATGCTTCATAATTACAGATATAAGCAGATGTACATAGA... |
Task1_train_9303 | A sequence alteration has been identified in NR2F1, NR2F1-AS1 (nuclear receptor subfamily 2 group F member 1| NR2F1 regulatory antisense RNA 1) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; not provided | GAGGGGGGAGGGGCTCTCCAACCAATGGCGTGCAGGAGGCTTGGCTAACCTTAGCCTCCCATTTTCTCTCCCCCCGATTCAGGGCTCTGACCAGTCAGTCGCCTTTGATTATCAGTTGCCAGCAGCCCTTCTCTTGGCTCCTTGACACGAGCTCCATATAAGGCAGCGATCTCCATAGAAACGTGTCAGTTTCAATAGTAGTGTCAAAGTTCACTATATACAGACATTCGCGCAGATCCCCCTTTCGGAAACATTGCTCTGCGAGTCCTCCCGTTTAAACGCATTCAATTTTTGGGTCTCTCTCTCTCTCTCTCTCTCTC... | GAGGGGGGAGGGGCTCTCCAACCAATGGCGTGCAGGAGGCTTGGCTAACCTTAGCCTCCCATTTTCTCTCCCCCCGATTCAGGGCTCTGACCAGTCAGTCGCCTTTGATTATCAGTTGCCAGCAGCCCTTCTCTTGGCTCCTTGACACGAGCTCCATATAAGGCAGCGATCTCCATAGAAACGTGTCAGTTTCAATAGTAGTGTCAAAGTTCACTATATACAGACATTCGCGCAGATCCCCCTTTCGGAAACATTGCTCTGCGAGTCCTCCCGTTTAAACGCATTCAATTTTTGGGTCTCTCTCTCTCTCTCTCTCTCTC... |
Task1_train_9304 | Gene NR2F1, NR2F1-AS1 (nuclear receptor subfamily 2 group F member 1| NR2F1 regulatory antisense RNA 1) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | GAGGGGGGAGGGGCTCTCCAACCAATGGCGTGCAGGAGGCTTGGCTAACCTTAGCCTCCCATTTTCTCTCCCCCCGATTCAGGGCTCTGACCAGTCAGTCGCCTTTGATTATCAGTTGCCAGCAGCCCTTCTCTTGGCTCCTTGACACGAGCTCCATATAAGGCAGCGATCTCCATAGAAACGTGTCAGTTTCAATAGTAGTGTCAAAGTTCACTATATACAGACATTCGCGCAGATCCCCCTTTCGGAAACATTGCTCTGCGAGTCCTCCCGTTTAAACGCATTCAATTTTTGGGTCTCTCTCTCTCTCTCTCTCTCTC... | GAGGGGGGAGGGGCTCTCCAACCAATGGCGTGCAGGAGGCTTGGCTAACCTTAGCCTCCCATTTTCTCTCCCCCCGATTCAGGGCTCTGACCAGTCAGTCGCCTTTGATTATCAGTTGCCAGCAGCCCTTCTCTTGGCTCCTTGACACGAGCTCCATATAAGGCAGCGATCTCCATAGAAACGTGTCAGTTTCAATAGTAGTGTCAAAGTTCACTATATACAGACATTCGCGCAGATCCCCCTTTCGGAAACATTGCTCTGCGAGTCCTCCCGTTTAAACGCATTCAATTTTTGGGTCTCTCTCTCTCTCTCTCTCTCTC... |
Task1_train_9305 | This variant affects the gene NR2F1, NR2F1-AS1 (nuclear receptor subfamily 2 group F member 1| NR2F1 regulatory antisense RNA 1) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Bosch-Boonstra-Schaaf optic atrophy syndrome | AGGGGGGAGGGGCTCTCCAACCAATGGCGTGCAGGAGGCTTGGCTAACCTTAGCCTCCCATTTTCTCTCCCCCCGATTCAGGGCTCTGACCAGTCAGTCGCCTTTGATTATCAGTTGCCAGCAGCCCTTCTCTTGGCTCCTTGACACGAGCTCCATATAAGGCAGCGATCTCCATAGAAACGTGTCAGTTTCAATAGTAGTGTCAAAGTTCACTATATACAGACATTCGCGCAGATCCCCCTTTCGGAAACATTGCTCTGCGAGTCCTCCCGTTTAAACGCATTCAATTTTTGGGTCTCTCTCTCTCTCTCTCTCTCTCT... | AGGGGGGAGGGGCTCTCCAACCAATGGCGTGCAGGAGGCTTGGCTAACCTTAGCCTCCCATTTTCTCTCCCCCCGATTCAGGGCTCTGACCAGTCAGTCGCCTTTGATTATCAGTTGCCAGCAGCCCTTCTCTTGGCTCCTTGACACGAGCTCCATATAAGGCAGCGATCTCCATAGAAACGTGTCAGTTTCAATAGTAGTGTCAAAGTTCACTATATACAGACATTCGCGCAGATCCCCCTTTCGGAAACATTGCTCTGCGAGTCCTCCCGTTTAAACGCATTCAATTTTTGGGTCTCTCTCTCTCTCTCTCTCTCTCT... |
Task1_train_9306 | Here’s a variant in NR2F1, NR2F1-AS1 (nuclear receptor subfamily 2 group F member 1| NR2F1 regulatory antisense RNA 1) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Inborn genetic diseases | AGGGGGGAGGGGCTCTCCAACCAATGGCGTGCAGGAGGCTTGGCTAACCTTAGCCTCCCATTTTCTCTCCCCCCGATTCAGGGCTCTGACCAGTCAGTCGCCTTTGATTATCAGTTGCCAGCAGCCCTTCTCTTGGCTCCTTGACACGAGCTCCATATAAGGCAGCGATCTCCATAGAAACGTGTCAGTTTCAATAGTAGTGTCAAAGTTCACTATATACAGACATTCGCGCAGATCCCCCTTTCGGAAACATTGCTCTGCGAGTCCTCCCGTTTAAACGCATTCAATTTTTGGGTCTCTCTCTCTCTCTCTCTCTCTCT... | AGGGGGGAGGGGCTCTCCAACCAATGGCGTGCAGGAGGCTTGGCTAACCTTAGCCTCCCATTTTCTCTCCCCCCGATTCAGGGCTCTGACCAGTCAGTCGCCTTTGATTATCAGTTGCCAGCAGCCCTTCTCTTGGCTCCTTGACACGAGCTCCATATAAGGCAGCGATCTCCATAGAAACGTGTCAGTTTCAATAGTAGTGTCAAAGTTCACTATATACAGACATTCGCGCAGATCCCCCTTTCGGAAACATTGCTCTGCGAGTCCTCCCGTTTAAACGCATTCAATTTTTGGGTCTCTCTCTCTCTCTCTCTCTCTCT... |
Task1_train_9307 | This is a variant in NR2F1, NR2F1-AS1 (nuclear receptor subfamily 2 group F member 1| NR2F1 regulatory antisense RNA 1), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | CGAGTCCTCCCGTTTAAACGCATTCAATTTTTGGGTCTCTCTCTCTCTCTCTCTCTCTCTTCTTCTCTTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCCTCTTTCTCCCCCCTCTCTCCCTCCTCTCCTCTCTCTCTCCTCTCTTCTCTGAACCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGG... | CGAGTCCTCCCGTTTAAACGCATTCAATTTTTGGGTCTCTCTCTCTCTCTCTCTCTCTCTTCTTCTCTTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCCTCTTTCTCCCCCCTCTCTCCCTCCTCTCCTCTCTCTCTCCTCTCTTCTCTGAACCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGG... |
Task1_train_9308 | Gene NR2F1, NR2F1-AS1 (nuclear receptor subfamily 2 group F member 1| NR2F1 regulatory antisense RNA 1), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Bosch-Boonstra-Schaaf optic atrophy syndrome | CATTCAATTTTTGGGTCTCTCTCTCTCTCTCTCTCTCTCTTCTTCTCTTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCCTCTTTCTCCCCCCTCTCTCCCTCCTCTCCTCTCTCTCTCCTCTCTTCTCTGAACCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCT... | CATTCAATTTTTGGGTCTCTCTCTCTCTCTCTCTCTCTCTTCTTCTCTTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCCTCTTTCTCCCCCCTCTCTCCCTCCTCTCCTCTCTCTCTCCTCTCTTCTCTGAACCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCT... |
Task1_train_9309 | A mutation in NR2F1, NR2F1-AS1 (nuclear receptor subfamily 2 group F member 1| NR2F1 regulatory antisense RNA 1), located on Chromosome 5, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Bosch-Boonstra-Schaaf optic atrophy syndrome | CAATTTTTGGGTCTCTCTCTCTCTCTCTCTCTCTCTTCTTCTCTTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCCTCTTTCTCCCCCCTCTCTCCCTCCTCTCCTCTCTCTCTCCTCTCTTCTCTGAACCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATC... | CAATTTTTGGGTCTCTCTCTCTCTCTCTCTCTCTCTTCTTCTCTTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCCTCTTTCTCCCCCCTCTCTCCCTCCTCTCCTCTCTCTCTCCTCTCTTCTCTGAACCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATC... |
Task1_train_9310 | A sequence alteration has been identified in NR2F1, NR2F1-AS1 (nuclear receptor subfamily 2 group F member 1| NR2F1 regulatory antisense RNA 1) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; not provided | TTTTGGGTCTCTCTCTCTCTCTCTCTCTCTCTTCTTCTCTTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCCTCTTTCTCCCCCCTCTCTCCCTCCTCTCCTCTCTCTCTCCTCTCTTCTCTGAACCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATCGTTA... | TTTTGGGTCTCTCTCTCTCTCTCTCTCTCTCTTCTTCTCTTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCCTCTTTCTCCCCCCTCTCTCCCTCCTCTCCTCTCTCTCTCCTCTCTTCTCTGAACCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATCGTTA... |
Task1_train_9311 | Chromosome 5 houses a mutation in gene NR2F1, NR2F1-AS1 (nuclear receptor subfamily 2 group F member 1| NR2F1 regulatory antisense RNA 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Bosch-Boonstra-Schaaf optic atrophy syndrome | TTGGGTCTCTCTCTCTCTCTCTCTCTCTCTTCTTCTCTTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCCTCTTTCTCCCCCCTCTCTCCCTCCTCTCCTCTCTCTCTCCTCTCTTCTCTGAACCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATCGTTATT... | TTGGGTCTCTCTCTCTCTCTCTCTCTCTCTTCTTCTCTTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCCTCTTTCTCCCCCCTCTCTCCCTCCTCTCCTCTCTCTCTCCTCTCTTCTCTGAACCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATCGTTATT... |
Task1_train_9312 | Assess the clinical impact of this variant on gene NR2F1, NR2F1-AS1 (nuclear receptor subfamily 2 group F member 1| NR2F1 regulatory antisense RNA 1), found on Chromosome 5. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Bosch-Boonstra-Schaaf optic atrophy syndrome | TCTCTCTCTCTCTCTTCTTCTCTTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCCTCTTTCTCCCCCCTCTCTCCCTCCTCTCCTCTCTCTCTCCTCTCTTCTCTGAACCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATCGTTATTTTATACATATATGAT... | TCTCTCTCTCTCTCTTCTTCTCTTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCCTCTTTCTCCCCCCTCTCTCCCTCCTCTCCTCTCTCTCTCCTCTCTTCTCTGAACCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATCGTTATTTTATACATATATGAT... |
Task1_train_9313 | Given this variant in gene NR2F1, NR2F1-AS1 (nuclear receptor subfamily 2 group F member 1| NR2F1 regulatory antisense RNA 1) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Bosch-Boonstra-Schaaf optic atrophy syndrome | CTCTCTCTCTCTTCTTCTCTTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCCTCTTTCTCCCCCCTCTCTCCCTCCTCTCCTCTCTCTCTCCTCTCTTCTCTGAACCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATCGTTATTTTATACATATATGATTTT... | CTCTCTCTCTCTTCTTCTCTTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCCTCTTTCTCCCCCCTCTCTCCCTCCTCTCCTCTCTCTCTCCTCTCTTCTCTGAACCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATCGTTATTTTATACATATATGATTTT... |
Task1_train_9314 | Here’s a variant in NR2F1, NR2F1-AS1 (nuclear receptor subfamily 2 group F member 1| NR2F1 regulatory antisense RNA 1) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Bosch-Boonstra-Schaaf optic atrophy syndrome | CTCTCTTCTCTGAACCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATCGTTATTTTATACATATATGATTTTTTTTGGAGGGAGGGTGTTGGTTGCCGGCTGAAGAGCACTTATTTAAAATACTAAAAAAAGAACATTTTTGGGCGATCTCCAGGGTTTTTTTAA... | CTCTCTTCTCTGAACCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATCGTTATTTTATACATATATGATTTTTTTTGGAGGGAGGGTGTTGGTTGCCGGCTGAAGAGCACTTATTTAAAATACTAAAAAAAGAACATTTTTGGGCGATCTCCAGGGTTTTTTTAA... |
Task1_train_9315 | A change on Chromosome 5 affects gene NR2F1, NR2F1-AS1 (nuclear receptor subfamily 2 group F member 1| NR2F1 regulatory antisense RNA 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Bosch-Boonstra-Schaaf optic atrophy syndrome | TGAACCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATCGTTATTTTATACATATATGATTTTTTTTGGAGGGAGGGTGTTGGTTGCCGGCTGAAGAGCACTTATTTAAAATACTAAAAAAAGAACATTTTTGGGCGATCTCCAGGGTTTTTTTAACTAGCTCTGT... | TGAACCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATCGTTATTTTATACATATATGATTTTTTTTGGAGGGAGGGTGTTGGTTGCCGGCTGAAGAGCACTTATTTAAAATACTAAAAAAAGAACATTTTTGGGCGATCTCCAGGGTTTTTTTAACTAGCTCTGT... |
Task1_train_9316 | A variant was discovered on Chromosome 5, affecting NR2F1, NR2F1-AS1 (nuclear receptor subfamily 2 group F member 1| NR2F1 regulatory antisense RNA 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | CCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATCGTTATTTTATACATATATGATTTTTTTTGGAGGGAGGGTGTTGGTTGCCGGCTGAAGAGCACTTATTTAAAATACTAAAAAAAGAACATTTTTGGGCGATCTCCAGGGTTTTTTTAACTAGCTCTGTGTGT... | CCTCTCTTCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATCGTTATTTTATACATATATGATTTTTTTTGGAGGGAGGGTGTTGGTTGCCGGCTGAAGAGCACTTATTTAAAATACTAAAAAAAGAACATTTTTGGGCGATCTCCAGGGTTTTTTTAACTAGCTCTGTGTGT... |
Task1_train_9317 | This is a variant in NR2F1, NR2F1-AS1 (nuclear receptor subfamily 2 group F member 1| NR2F1 regulatory antisense RNA 1), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATCGTTATTTTATACATATATGATTTTTTTTGGAGGGAGGGTGTTGGTTGCCGGCTGAAGAGCACTTATTTAAAATACTAAAAAAAGAACATTTTTGGGCGATCTCCAGGGTTTTTTTAACTAGCTCTGTGTGTTATAGCA... | TCTCTTTCTCTTTTCTTACATATTCTACTAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATCGTTATTTTATACATATATGATTTTTTTTGGAGGGAGGGTGTTGGTTGCCGGCTGAAGAGCACTTATTTAAAATACTAAAAAAAGAACATTTTTGGGCGATCTCCAGGGTTTTTTTAACTAGCTCTGTGTGTTATAGCA... |
Task1_train_9318 | A variant affecting Chromosome 5, within the gene NR2F1, NR2F1-AS1 (nuclear receptor subfamily 2 group F member 1| NR2F1 regulatory antisense RNA 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Bosch-Boonstra-Schaaf optic atrophy syndrome | TAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATCGTTATTTTATACATATATGATTTTTTTTGGAGGGAGGGTGTTGGTTGCCGGCTGAAGAGCACTTATTTAAAATACTAAAAAAAGAACATTTTTGGGCGATCTCCAGGGTTTTTTTAACTAGCTCTGTGTGTTATAGCAGAAGAAGCAGAAGAAGGAGCAAGAAAGA... | TAGTTGTTTTCCCCTTCTTCTTCTCCTTTCTCTCCTTTTTCTCCCTCCTCCTTGTCTCTTTTACTCCATTCCTGCAGAAGAGAGAGGGCTAAACTTAAAGAAAAAAAAAAGGAGGAGGAGGAGGAGGAGGCACCCCCTTCGTATTCTTCTTATCGTTATTTTATACATATATGATTTTTTTTGGAGGGAGGGTGTTGGTTGCCGGCTGAAGAGCACTTATTTAAAATACTAAAAAAAGAACATTTTTGGGCGATCTCCAGGGTTTTTTTAACTAGCTCTGTGTGTTATAGCAGAAGAAGCAGAAGAAGGAGCAAGAAAGA... |
Task1_train_9319 | Here is a variant affecting NR2F1 (nuclear receptor subfamily 2 group F member 1) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Neurodevelopmental delay | TTCCCTCTCTTCTTCACGGAGCTGGGGCCGCCTCCTCCAGAGCTGTGGCCTTGTTTTCACCCCTCTACTTTGAAAGGAAAGTTTGTGACTGAACCGTGCTTTCATAGTTGTGTCATTTTTTTTAAAGCATGATACTCGTTTTATTTCTTCATCAAACTCCACCCTCTGCTTAAATACTGCATACAAATTACAATTTACAACGGCATTTACCGATCCTTCTGATTTGGCCGTAATGCATAGACTGCAGCTAGCATGAGCTTCCACATCATTTAATCCCTGTGTTGTATGGGTTTGTTTTTTTTAAAAAAAAACACAACTTT... | TTCCCTCTCTTCTTCACGGAGCTGGGGCCGCCTCCTCCAGAGCTGTGGCCTTGTTTTCACCCCTCTACTTTGAAAGGAAAGTTTGTGACTGAACCGTGCTTTCATAGTTGTGTCATTTTTTTTAAAGCATGATACTCGTTTTATTTCTTCATCAAACTCCACCCTCTGCTTAAATACTGCATACAAATTACAATTTACAACGGCATTTACCGATCCTTCTGATTTGGCCGTAATGCATAGACTGCAGCTAGCATGAGCTTCCACATCATTTAATCCCTGTGTTGTATGGGTTTGTTTTTTTTAAAAAAAAACACAACTTT... |
Task1_train_9320 | This variant affects the gene KIAA0825 (KIAA0825) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Polydactyly, postaxial, type a10 | AAATATCAATTATACACTCTCAGTTTGGTTAAGTCTATCTCTAAAATACATATATAATGTGTATATATATAGGTATAGTATAAAGGGCAAATACAAATTAAAAATAAGAAGTTTAATTTTCCCTGTTGAAAATAAGGGAAAAGATTTCCCTCCTCTCCTTTTTCCTTAGAGCATTTACCTTAGAAAGCTTGTAATCATAGGCCAAGCATGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAATGTCGTGAAACCCTGTCTGTACCA... | AAATATCAATTATACACTCTCAGTTTGGTTAAGTCTATCTCTAAAATACATATATAATGTGTATATATATAGGTATAGTATAAAGGGCAAATACAAATTAAAAATAAGAAGTTTAATTTTCCCTGTTGAAAATAAGGGAAAAGATTTCCCTCCTCTCCTTTTTCCTTAGAGCATTTACCTTAGAAAGCTTGTAATCATAGGCCAAGCATGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAATGTCGTGAAACCCTGTCTGTACCA... |
Task1_train_9321 | Here’s a variant in ARSK (arylsulfatase family member K) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Mucopolysaccharidosis, type 10 | ATTCAAGTGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATCACAGGCACCTGCCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCTGACTGGCTTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGAGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCACTATGCACTTTTGTCTTCGCCTTTCTAGCTCATCATTGAGGAAATCAGTAGTTATTTGCTTAGCATTCAATGATTACTCTTGCTAGAAGTGGTAATTTATTTTGACATAAGACA... | ATTCAAGTGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATCACAGGCACCTGCCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCTGACTGGCTTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGAGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCACTATGCACTTTTGTCTTCGCCTTTCTAGCTCATCATTGAGGAAATCAGTAGTTATTTGCTTAGCATTCAATGATTACTCTTGCTAGAAGTGGTAATTTATTTTGACATAAGACA... |
Task1_train_9322 | This variant impacts the gene CAST, LOC101929710, PCSK1 (calpastatin| uncharacterized LOC101929710| proprotein convertase subtilisin/kexin type 1) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; Obesity due to prohormone convertase I deficiency | TCACACCAAAGTTGGTCTGAGCATTTAAGTATCTTTGTGAATATGATTGATTTTGTTGGCTGAATAGGTTAGATGGCTGGCTGCATGCAGACATGGGAACACCTGGATTTGTCCCACAGTCTGTCACATTGTTTATATAAGTGTTTTTCCCCCTCTTATAGTATGGCTGAAGCCTAATCTTTCTTTTTGAATATTATCTACGTAACCAAGTGGTCAGGGCTTGAAACACTCTACTTTTCCCTTACTTCTACTAAGAAGGGGTACAATTCTTTAGGGCCCTAATTAATGATGAAATCAACCTTAAAAGTGCTTCAAAATGT... | TCACACCAAAGTTGGTCTGAGCATTTAAGTATCTTTGTGAATATGATTGATTTTGTTGGCTGAATAGGTTAGATGGCTGGCTGCATGCAGACATGGGAACACCTGGATTTGTCCCACAGTCTGTCACATTGTTTATATAAGTGTTTTTCCCCCTCTTATAGTATGGCTGAAGCCTAATCTTTCTTTTTGAATATTATCTACGTAACCAAGTGGTCAGGGCTTGAAACACTCTACTTTTCCCTTACTTCTACTAAGAAGGGGTACAATTCTTTAGGGCCCTAATTAATGATGAAATCAACCTTAAAAGTGCTTCAAAATGT... |
Task1_train_9323 | This alteration in CAST, LOC101929710, PCSK1 (calpastatin| uncharacterized LOC101929710| proprotein convertase subtilisin/kexin type 1) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Obesity due to prohormone convertase I deficiency | GAAAACGATGGGTCTTTAAAATGGAAAGTGTGCTGGACTTAGTTCTGGGTTCAAATTCTCTAACTGCTACTTAATAGATTTGTCCTCGGGCAAGTCATTTGGCTCCCCATCTGTAAAATGCGATTTATATTTTCTGACTCATATGCGAGACTTACCCGAGATGTTCTCTGTGAAAGTAGTTTTACATAATTTTCTTGCAAGTAAGGAATTACCCTGGCTAACTTTAGGGTAATGAAGAGATTGCTGAGATGAAGGGAAGAAACTGAAAAGACTTCCTGTCTGCCTTAAGGACCACGGCGCTGCTGGTTGGGCCAAGGGAT... | GAAAACGATGGGTCTTTAAAATGGAAAGTGTGCTGGACTTAGTTCTGGGTTCAAATTCTCTAACTGCTACTTAATAGATTTGTCCTCGGGCAAGTCATTTGGCTCCCCATCTGTAAAATGCGATTTATATTTTCTGACTCATATGCGAGACTTACCCGAGATGTTCTCTGTGAAAGTAGTTTTACATAATTTTCTTGCAAGTAAGGAATTACCCTGGCTAACTTTAGGGTAATGAAGAGATTGCTGAGATGAAGGGAAGAAACTGAAAAGACTTCCTGTCTGCCTTAAGGACCACGGCGCTGCTGGTTGGGCCAAGGGAT... |
Task1_train_9324 | The gene LOC101929710, PCSK1, CAST (uncharacterized LOC101929710| proprotein convertase subtilisin/kexin type 1| calpastatin) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Obesity due to prohormone convertase I deficiency | ATGGGTCTTTAAAATGGAAAGTGTGCTGGACTTAGTTCTGGGTTCAAATTCTCTAACTGCTACTTAATAGATTTGTCCTCGGGCAAGTCATTTGGCTCCCCATCTGTAAAATGCGATTTATATTTTCTGACTCATATGCGAGACTTACCCGAGATGTTCTCTGTGAAAGTAGTTTTACATAATTTTCTTGCAAGTAAGGAATTACCCTGGCTAACTTTAGGGTAATGAAGAGATTGCTGAGATGAAGGGAAGAAACTGAAAAGACTTCCTGTCTGCCTTAAGGACCACGGCGCTGCTGGTTGGGCCAAGGGATTACTAAC... | ATGGGTCTTTAAAATGGAAAGTGTGCTGGACTTAGTTCTGGGTTCAAATTCTCTAACTGCTACTTAATAGATTTGTCCTCGGGCAAGTCATTTGGCTCCCCATCTGTAAAATGCGATTTATATTTTCTGACTCATATGCGAGACTTACCCGAGATGTTCTCTGTGAAAGTAGTTTTACATAATTTTCTTGCAAGTAAGGAATTACCCTGGCTAACTTTAGGGTAATGAAGAGATTGCTGAGATGAAGGGAAGAAACTGAAAAGACTTCCTGTCTGCCTTAAGGACCACGGCGCTGCTGGTTGGGCCAAGGGATTACTAAC... |
Task1_train_9325 | With a mutation on Chromosome 5 in gene CHD1 (chromodomain helicase DNA binding protein 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Pilarowski-Bjornsson syndrome | GCATGAGTTGAAAGGGAAGCTGGGGCTGGGCACAGTGGCTCATACCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGTGTGGATCGCTTGGGGCCAGGAGTTCAGGATCAGCCTGGCCAGCATGGCAAAACCCTGTCTCTACTAAAAATAAAAAAATCAGCAGGGCATTGTGGGGCACACCTGTAAACCCAGCTACTTGGGAGGCTGAGGCACCAGAATCATTTGAAACCAGAAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGGAGTACAAAGGGAGACTCCGTCTCAAAAAACAAACAAAC... | GCATGAGTTGAAAGGGAAGCTGGGGCTGGGCACAGTGGCTCATACCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGTGTGGATCGCTTGGGGCCAGGAGTTCAGGATCAGCCTGGCCAGCATGGCAAAACCCTGTCTCTACTAAAAATAAAAAAATCAGCAGGGCATTGTGGGGCACACCTGTAAACCCAGCTACTTGGGAGGCTGAGGCACCAGAATCATTTGAAACCAGAAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGGAGTACAAAGGGAGACTCCGTCTCAAAAAACAAACAAAC... |
Task1_train_9326 | A variant was discovered on Chromosome 5, affecting CHD1 (chromodomain helicase DNA binding protein 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Pilarowski-Bjornsson syndrome | ACATAAGTGATTAATTCATTTAATAATGTAATGTTTATGGATGAAATATGATGTCTGGGGTTTGCTTCACAGTAACTAGGAAAGTCGTGTGTAGAGGTATAGACAAAACAAAACTAGCAGTAAATTTGTGAAACTTAAGAACATGAGTGTTTATTACATTCTTCTGTCTGTTCTCATGCATATTTGAAATTTTCCATTAAAAATGTAAAATAGGCTGGTATGGTGGCTCACGCCTGTAAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAAAC... | ACATAAGTGATTAATTCATTTAATAATGTAATGTTTATGGATGAAATATGATGTCTGGGGTTTGCTTCACAGTAACTAGGAAAGTCGTGTGTAGAGGTATAGACAAAACAAAACTAGCAGTAAATTTGTGAAACTTAAGAACATGAGTGTTTATTACATTCTTCTGTCTGTTCTCATGCATATTTGAAATTTTCCATTAAAAATGTAAAATAGGCTGGTATGGTGGCTCACGCCTGTAAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAAAC... |
Task1_train_9327 | A variant has been detected on Chromosome 5 in SLC25A46 (solute carrier family 25 member 46). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Neuropathy, hereditary motor and sensory, type 6B | GAGGAGTATATTATATTCTTTTGAGATAATTGTGGGTATTCTTTGCAATTGCACCAAAACTCACTGTGTCGCAGTTTCTTAAAGGTTATTTGCAATGTGAAATCAGAAATCATTTTAGTGAACTTTTTATACTTTGTTACATTAAAAAATCCATTTAACTATACTGCATCTTGAATAGATATTTTTACTTATGCCTGATTCCATGTAATTGTGCATAAGTTATTTGAAAAATATTGACCAATTGAGTTACATAGATCTTCCTGTTGTTAAAACATTTGATTATAAAATATCAAAAAATCATCTTCATTAAAAATACTACT... | GAGGAGTATATTATATTCTTTTGAGATAATTGTGGGTATTCTTTGCAATTGCACCAAAACTCACTGTGTCGCAGTTTCTTAAAGGTTATTTGCAATGTGAAATCAGAAATCATTTTAGTGAACTTTTTATACTTTGTTACATTAAAAAATCCATTTAACTATACTGCATCTTGAATAGATATTTTTACTTATGCCTGATTCCATGTAATTGTGCATAAGTTATTTGAAAAATATTGACCAATTGAGTTACATAGATCTTCCTGTTGTTAAAACATTTGATTATAAAATATCAAAAAATCATCTTCATTAAAAATACTACT... |
Task1_train_9328 | The variant affects gene SLC25A46 (solute carrier family 25 member 46), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Pontocerebellar hypoplasia, type 1E | ATATTCTTTTGAGATAATTGTGGGTATTCTTTGCAATTGCACCAAAACTCACTGTGTCGCAGTTTCTTAAAGGTTATTTGCAATGTGAAATCAGAAATCATTTTAGTGAACTTTTTATACTTTGTTACATTAAAAAATCCATTTAACTATACTGCATCTTGAATAGATATTTTTACTTATGCCTGATTCCATGTAATTGTGCATAAGTTATTTGAAAAATATTGACCAATTGAGTTACATAGATCTTCCTGTTGTTAAAACATTTGATTATAAAATATCAAAAAATCATCTTCATTAAAAATACTACTGATCTCACTAGA... | ATATTCTTTTGAGATAATTGTGGGTATTCTTTGCAATTGCACCAAAACTCACTGTGTCGCAGTTTCTTAAAGGTTATTTGCAATGTGAAATCAGAAATCATTTTAGTGAACTTTTTATACTTTGTTACATTAAAAAATCCATTTAACTATACTGCATCTTGAATAGATATTTTTACTTATGCCTGATTCCATGTAATTGTGCATAAGTTATTTGAAAAATATTGACCAATTGAGTTACATAGATCTTCCTGTTGTTAAAACATTTGATTATAAAATATCAAAAAATCATCTTCATTAAAAATACTACTGATCTCACTAGA... |
Task1_train_9329 | This alteration occurs within gene SLC25A46 (solute carrier family 25 member 46) located on Chromosome 5. Is it associated with a disease or is it a benign variant? | Pathogenic; Neuropathy, hereditary motor and sensory, type 6B | ATTTTGCTTATGTGTAATTTATGTTGACTTTGGAATTAACTTTTGTTTATACTGCAATTCCACCATATTTCTTTCATGGCTCTGTTATTTCTTGACAAAACATTAACAGAAAAAAATAATGAAATATCTTTTTTACAGGTTAATTACCATGCTCAGCATTACCATCTCACTCCATTTACAGTCATCAATATTATGTACAGTTTCAACAAAACTCAGGTGAGAATTTTGTCTGGATTCTATTAAAGGTTTATATAAGTGTCATTTGGGTTTAGTAATCATTAAAGCAAGAATAATTACTTTCAGTTTGGTCAATAAAACAT... | ATTTTGCTTATGTGTAATTTATGTTGACTTTGGAATTAACTTTTGTTTATACTGCAATTCCACCATATTTCTTTCATGGCTCTGTTATTTCTTGACAAAACATTAACAGAAAAAAATAATGAAATATCTTTTTTACAGGTTAATTACCATGCTCAGCATTACCATCTCACTCCATTTACAGTCATCAATATTATGTACAGTTTCAACAAAACTCAGGTGAGAATTTTGTCTGGATTCTATTAAAGGTTTATATAAGTGTCATTTGGGTTTAGTAATCATTAAAGCAAGAATAATTACTTTCAGTTTGGTCAATAAAACAT... |
Task1_train_9330 | Here is a mutation in SLC25A46 (solute carrier family 25 member 46) on Chromosome 5. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | AGCAAATGTTGAATTGTATTTAGAGGGAAAGCAGGTGCAAAAACTCTCAAGTGGGACTGTGTCATGTGTGTTGTATCACACATGCTTAAGAAGTAGAAAGGAAGCTGTTATGGTTGGTGCTAAGTAAGCAAGGGGGGAATACAGGAGATGAGGCCTGAGTGGTAAGAGGGGACCAGATTACATAGGACATTGTAAATCATTGTAATAATTGGGCTTTTGTTTGAGAAGGATGGAAAGTCTTTGATAGGTTTGAGCAGAGCGGTGGTGTGATCTGACTTACATCTTTATTAGGATCTCTTTGACTGTTGCATTAAAAATAA... | AGCAAATGTTGAATTGTATTTAGAGGGAAAGCAGGTGCAAAAACTCTCAAGTGGGACTGTGTCATGTGTGTTGTATCACACATGCTTAAGAAGTAGAAAGGAAGCTGTTATGGTTGGTGCTAAGTAAGCAAGGGGGGAATACAGGAGATGAGGCCTGAGTGGTAAGAGGGGACCAGATTACATAGGACATTGTAAATCATTGTAATAATTGGGCTTTTGTTTGAGAAGGATGGAAAGTCTTTGATAGGTTTGAGCAGAGCGGTGGTGTGATCTGACTTACATCTTTATTAGGATCTCTTTGACTGTTGCATTAAAAATAA... |
Task1_train_9331 | The gene SLC25A46 (solute carrier family 25 member 46) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Neuropathy, hereditary motor and sensory, type 6B | GTTGAATTGTATTTAGAGGGAAAGCAGGTGCAAAAACTCTCAAGTGGGACTGTGTCATGTGTGTTGTATCACACATGCTTAAGAAGTAGAAAGGAAGCTGTTATGGTTGGTGCTAAGTAAGCAAGGGGGGAATACAGGAGATGAGGCCTGAGTGGTAAGAGGGGACCAGATTACATAGGACATTGTAAATCATTGTAATAATTGGGCTTTTGTTTGAGAAGGATGGAAAGTCTTTGATAGGTTTGAGCAGAGCGGTGGTGTGATCTGACTTACATCTTTATTAGGATCTCTTTGACTGTTGCATTAAAAATAAACTGGAG... | GTTGAATTGTATTTAGAGGGAAAGCAGGTGCAAAAACTCTCAAGTGGGACTGTGTCATGTGTGTTGTATCACACATGCTTAAGAAGTAGAAAGGAAGCTGTTATGGTTGGTGCTAAGTAAGCAAGGGGGGAATACAGGAGATGAGGCCTGAGTGGTAAGAGGGGACCAGATTACATAGGACATTGTAAATCATTGTAATAATTGGGCTTTTGTTTGAGAAGGATGGAAAGTCTTTGATAGGTTTGAGCAGAGCGGTGGTGTGATCTGACTTACATCTTTATTAGGATCTCTTTGACTGTTGCATTAAAAATAAACTGGAG... |
Task1_train_9332 | Chromosome 5 houses a mutation in gene SLC25A46 (solute carrier family 25 member 46). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Neuropathy, hereditary motor and sensory, type 6B | TAGAGGGAAAGCAGGTGCAAAAACTCTCAAGTGGGACTGTGTCATGTGTGTTGTATCACACATGCTTAAGAAGTAGAAAGGAAGCTGTTATGGTTGGTGCTAAGTAAGCAAGGGGGGAATACAGGAGATGAGGCCTGAGTGGTAAGAGGGGACCAGATTACATAGGACATTGTAAATCATTGTAATAATTGGGCTTTTGTTTGAGAAGGATGGAAAGTCTTTGATAGGTTTGAGCAGAGCGGTGGTGTGATCTGACTTACATCTTTATTAGGATCTCTTTGACTGTTGCATTAAAAATAAACTGGAGTGGGAAGGATGTC... | TAGAGGGAAAGCAGGTGCAAAAACTCTCAAGTGGGACTGTGTCATGTGTGTTGTATCACACATGCTTAAGAAGTAGAAAGGAAGCTGTTATGGTTGGTGCTAAGTAAGCAAGGGGGGAATACAGGAGATGAGGCCTGAGTGGTAAGAGGGGACCAGATTACATAGGACATTGTAAATCATTGTAATAATTGGGCTTTTGTTTGAGAAGGATGGAAAGTCTTTGATAGGTTTGAGCAGAGCGGTGGTGTGATCTGACTTACATCTTTATTAGGATCTCTTTGACTGTTGCATTAAAAATAAACTGGAGTGGGAAGGATGTC... |
Task1_train_9333 | The variant affects gene SLC25A46 (solute carrier family 25 member 46), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Pontocerebellar hypoplasia, type 1E | TAGAGGGAAAGCAGGTGCAAAAACTCTCAAGTGGGACTGTGTCATGTGTGTTGTATCACACATGCTTAAGAAGTAGAAAGGAAGCTGTTATGGTTGGTGCTAAGTAAGCAAGGGGGGAATACAGGAGATGAGGCCTGAGTGGTAAGAGGGGACCAGATTACATAGGACATTGTAAATCATTGTAATAATTGGGCTTTTGTTTGAGAAGGATGGAAAGTCTTTGATAGGTTTGAGCAGAGCGGTGGTGTGATCTGACTTACATCTTTATTAGGATCTCTTTGACTGTTGCATTAAAAATAAACTGGAGTGGGAAGGATGTC... | TAGAGGGAAAGCAGGTGCAAAAACTCTCAAGTGGGACTGTGTCATGTGTGTTGTATCACACATGCTTAAGAAGTAGAAAGGAAGCTGTTATGGTTGGTGCTAAGTAAGCAAGGGGGGAATACAGGAGATGAGGCCTGAGTGGTAAGAGGGGACCAGATTACATAGGACATTGTAAATCATTGTAATAATTGGGCTTTTGTTTGAGAAGGATGGAAAGTCTTTGATAGGTTTGAGCAGAGCGGTGGTGTGATCTGACTTACATCTTTATTAGGATCTCTTTGACTGTTGCATTAAAAATAAACTGGAGTGGGAAGGATGTC... |
Task1_train_9334 | Given this variant in gene SLC25A46 (solute carrier family 25 member 46) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Neuropathy, hereditary motor and sensory, type 6B | TAGAGGGAAAGCAGGTGCAAAAACTCTCAAGTGGGACTGTGTCATGTGTGTTGTATCACACATGCTTAAGAAGTAGAAAGGAAGCTGTTATGGTTGGTGCTAAGTAAGCAAGGGGGGAATACAGGAGATGAGGCCTGAGTGGTAAGAGGGGACCAGATTACATAGGACATTGTAAATCATTGTAATAATTGGGCTTTTGTTTGAGAAGGATGGAAAGTCTTTGATAGGTTTGAGCAGAGCGGTGGTGTGATCTGACTTACATCTTTATTAGGATCTCTTTGACTGTTGCATTAAAAATAAACTGGAGTGGGAAGGATGTC... | TAGAGGGAAAGCAGGTGCAAAAACTCTCAAGTGGGACTGTGTCATGTGTGTTGTATCACACATGCTTAAGAAGTAGAAAGGAAGCTGTTATGGTTGGTGCTAAGTAAGCAAGGGGGGAATACAGGAGATGAGGCCTGAGTGGTAAGAGGGGACCAGATTACATAGGACATTGTAAATCATTGTAATAATTGGGCTTTTGTTTGAGAAGGATGGAAAGTCTTTGATAGGTTTGAGCAGAGCGGTGGTGTGATCTGACTTACATCTTTATTAGGATCTCTTTGACTGTTGCATTAAAAATAAACTGGAGTGGGAAGGATGTC... |
Task1_train_9335 | This variant affects gene SLC25A46 (solute carrier family 25 member 46) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; Pontocerebellar hypoplasia, type 1E | GGGAAAGCAGGTGCAAAAACTCTCAAGTGGGACTGTGTCATGTGTGTTGTATCACACATGCTTAAGAAGTAGAAAGGAAGCTGTTATGGTTGGTGCTAAGTAAGCAAGGGGGGAATACAGGAGATGAGGCCTGAGTGGTAAGAGGGGACCAGATTACATAGGACATTGTAAATCATTGTAATAATTGGGCTTTTGTTTGAGAAGGATGGAAAGTCTTTGATAGGTTTGAGCAGAGCGGTGGTGTGATCTGACTTACATCTTTATTAGGATCTCTTTGACTGTTGCATTAAAAATAAACTGGAGTGGGAAGGATGTCAGGG... | GGGAAAGCAGGTGCAAAAACTCTCAAGTGGGACTGTGTCATGTGTGTTGTATCACACATGCTTAAGAAGTAGAAAGGAAGCTGTTATGGTTGGTGCTAAGTAAGCAAGGGGGGAATACAGGAGATGAGGCCTGAGTGGTAAGAGGGGACCAGATTACATAGGACATTGTAAATCATTGTAATAATTGGGCTTTTGTTTGAGAAGGATGGAAAGTCTTTGATAGGTTTGAGCAGAGCGGTGGTGTGATCTGACTTACATCTTTATTAGGATCTCTTTGACTGTTGCATTAAAAATAAACTGGAGTGGGAAGGATGTCAGGG... |
Task1_train_9336 | This variant affects the gene CAMK4 (calcium/calmodulin dependent protein kinase IV) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | ATATTAAGTGAATAAGAGGGTTAGCTTTGATGTTCCTTCATTCAGCTAGATCCCTTGTTAGTTTATCACTGCTTAAAACTTCAGAACTGGAAGAATCCTTGAGCTCCATAAATGTATACTTACTAGCAAAACCCACATCTGTTGTGTCATCGGCAGAGACTAAGTGCTAAGGAGTTGGGGAATTGGATGTAAGGGGTACTGCAGGGTAATGGCAAGGCTTTGAGTGTGATTATAACCTTCAGAAAGTTTCCTAATAATTCAGTTAGGATTGTTATCAATATCTTCAAATGTAAAGATTAACAATGGTGTATATAAATTTT... | ATATTAAGTGAATAAGAGGGTTAGCTTTGATGTTCCTTCATTCAGCTAGATCCCTTGTTAGTTTATCACTGCTTAAAACTTCAGAACTGGAAGAATCCTTGAGCTCCATAAATGTATACTTACTAGCAAAACCCACATCTGTTGTGTCATCGGCAGAGACTAAGTGCTAAGGAGTTGGGGAATTGGATGTAAGGGGTACTGCAGGGTAATGGCAAGGCTTTGAGTGTGATTATAACCTTCAGAAAGTTTCCTAATAATTCAGTTAGGATTGTTATCAATATCTTCAAATGTAAAGATTAACAATGGTGTATATAAATTTT... |
Task1_train_9337 | Gene APC (APC regulator of WNT signaling pathway), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTACTTTTCTTATAGGGGAACGTTCC... | ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACTCATGGTTTTTGTTTGTTTGTTTTTTTAATTTTGTAGGGACAGAGTCTCGCTATGTTGTTCAGGCTGGTCTCAAACTCCTGGACTCAAGTGACCTTCCTGCCTTAGCCTCCCAAAGCGTTGAGGTTACAGGCATGAGCCACCATGAATGCTTACAATGTCACTGTCAAGATAAATCAGTGAAACCGTCTTTGCTCCAGTCACTCACTTTTTGACAGGTTTTCCTTTTAATGTATTTACAGATTACTTTTCTTATAGGGGAACGTTCC... |
Task1_train_9338 | Located on Chromosome 5, this mutation impacts APC (APC regulator of WNT signaling pathway). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Familial adenomatous polyposis 1 | TTATATGTATTATATACTATGTTAAGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACC... | TTATATGTATTATATACTATGTTAAGTTAGAGAAAACATGTTATTAAGAAAATCATAATGAAGTGGAAGGGAATTCTTGTATAAGTGGACCCATGCAGTTCACACCCATATTCAAGGGTCAACTGAGTAAAAAATGTTAAAAAGACAAGTGTCAAGTTCAGAAAATTATATGCAGCCCAACAACTGACAAAGCACTATCATTTTTAATATAGAAAAGGTCCTACAAATAAGAAAAATCACAGAAAAGGAAATACAAATGGTTTATAAACTTGAACAAAATGTTTAATCTCACTCATAGTAAGAGAAATCAAATTAAAACC... |
Task1_train_9339 | A variant was discovered in gene APC (APC regulator of WNT signaling pathway), Chromosome 5. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hereditary cancer-predisposing syndrome | TGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGTTAAATATTTCAGGCCCAGGGGCCCTTTCACATGCTGTTTCCTTTGCTTA... | TGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGTTAAATATTTCAGGCCCAGGGGCCCTTTCACATGCTGTTTCCTTTGCTTA... |
Task1_train_9340 | This sequence variant lies in APC (APC regulator of WNT signaling pathway) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Familial adenomatous polyposis 1 | TGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGTTAAATATTTCAGGCCCAGGGGCCCTTTCACATGCTGTTTCCTTTGCTTA... | TGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGTTAAATATTTCAGGCCCAGGGGCCCTTTCACATGCTGTTTCCTTTGCTTA... |
Task1_train_9341 | Chromosome 5 houses a mutation in gene APC (APC regulator of WNT signaling pathway). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Familial adenomatous polyposis 1 | TAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCC... | TAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCC... |
Task1_train_9342 | Located on Chromosome 5, this mutation impacts APC (APC regulator of WNT signaling pathway). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hereditary cancer-predisposing syndrome | TAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCC... | TAGCCTCCCGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCC... |
Task1_train_9343 | A mutation in APC (APC regulator of WNT signaling pathway), located on Chromosome 5, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hepatoblastoma | ATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAAC... | ATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAAC... |
Task1_train_9344 | This gene mutation involves MCC (MCC regulator of WNT signaling pathway) on Chromosome 5. Is it associated with any clinical condition, or is it benign? | Pathogenic; Carcinoma of colon | GGCTGTTATTAGCCAGGAGACACAGAAAGCCCAGGAGACAGCTTCTGATATGACCCAGCTGACAGCACTTTGAAGGACCTGGCTACATTTTCTGGGTGGCAGACTGTAATAAGTAGAAGCAGGACTCTCAAATGGGATGGCCGGGTGCAGTGGCTCATGCCTGTAATCAGAGCACACTGTGAGGCCAAGGCGGTTGGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGTGTGCCTGTAGTGCCAGCTAACTTGGGAG... | GGCTGTTATTAGCCAGGAGACACAGAAAGCCCAGGAGACAGCTTCTGATATGACCCAGCTGACAGCACTTTGAAGGACCTGGCTACATTTTCTGGGTGGCAGACTGTAATAAGTAGAAGCAGGACTCTCAAATGGGATGGCCGGGTGCAGTGGCTCATGCCTGTAATCAGAGCACACTGTGAGGCCAAGGCGGTTGGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGTGTGCCTGTAGTGCCAGCTAACTTGGGAG... |
Task1_train_9345 | The gene MCC (MCC regulator of WNT signaling pathway), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Carcinoma of colon | CTCGGAGCTGCTCTGATTTGGGCGGGAGGGTAAAAGTGATTTTTTAAGGAGAATTGGGTGACATTGGAGCTAAAGACCTCTGTACTTTGATGGGAAGATCCATTTGAGACTGAAATTAATTTAAGAACCATTCTTTGGTGAGGTTATCCTTGGAAACAATGACTCTGTGTTTTGAATTTATCTCAATCTGCAGAAAAACAGGATCCCAAATTAAATTTCTCTAAGAAAACAGTCTCAAAATCAAGGCTAACCTGTAAGTTCAAGTACTTCTAACAAATATTCAAAAGCTAAATAGATGGTGATAAAATTGTTCTCCCTCC... | CTCGGAGCTGCTCTGATTTGGGCGGGAGGGTAAAAGTGATTTTTTAAGGAGAATTGGGTGACATTGGAGCTAAAGACCTCTGTACTTTGATGGGAAGATCCATTTGAGACTGAAATTAATTTAAGAACCATTCTTTGGTGAGGTTATCCTTGGAAACAATGACTCTGTGTTTTGAATTTATCTCAATCTGCAGAAAAACAGGATCCCAAATTAAATTTCTCTAAGAAAACAGTCTCAAAATCAAGGCTAACCTGTAAGTTCAAGTACTTCTAACAAATATTCAAAAGCTAAATAGATGGTGATAAAATTGTTCTCCCTCC... |
Task1_train_9346 | A mutation found in KCNN2, LOC101927078 (potassium calcium-activated channel subfamily N member 2| uncharacterized LOC101927078) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | ACGCATAGCAGGCTCCCAGAGCAGTCCACAGAATCCTGCTTAGCTCATATTGTGGCTGAGCATAGCACTGATCACATAGCATCTTCCTAGGTATATATTAGGTAACAAAGATTCTCAGGGGAAATGCACTCAGCTGCCTTCCTGGAATGCTAGGAATACATATGACTTTCCTTTTGACAATGACAGCCTCTACACCAAGACCTTCTGGGGAGAGGGGACTTTACAGCTAGGTCATGGAGGTTGTTTAGGGGTGAGGAACGGTGGTGATTTCTGCACCTCTGCCACAGAAACTTGCAGGATGCTCCTAATCAGGCTGGCTG... | ACGCATAGCAGGCTCCCAGAGCAGTCCACAGAATCCTGCTTAGCTCATATTGTGGCTGAGCATAGCACTGATCACATAGCATCTTCCTAGGTATATATTAGGTAACAAAGATTCTCAGGGGAAATGCACTCAGCTGCCTTCCTGGAATGCTAGGAATACATATGACTTTCCTTTTGACAATGACAGCCTCTACACCAAGACCTTCTGGGGAGAGGGGACTTTACAGCTAGGTCATGGAGGTTGTTTAGGGGTGAGGAACGGTGGTGATTTCTGCACCTCTGCCACAGAAACTTGCAGGATGCTCCTAATCAGGCTGGCTG... |
Task1_train_9347 | Assess the clinical impact of this variant on gene KCNN2, LOC101927078 (potassium calcium-activated channel subfamily N member 2| uncharacterized LOC101927078), found on Chromosome 5. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Intellectual disability, moderate | TTATTTTGATAATCATATTGCTTGATTTTTAGACATTCATACTTTATCATATAAAATAGGTGAATTTGAATTTCCTGTCTTGCTTTGAAATACAGTGCTTCATAATGCATTATGGCTATGGAATAATCACAAATAAGAATATACAGTCATCCCTTAGTATCCATGGGGGTTCAGTTCCAGAACCCCACTTCCTGCCATGAATACCAAAATTCACGGATGCTCAAGTCCTTTATAAAATAGTGTATTACTTGCATGTAACCTAGGTACATCCTCCTGTGTACTTTAATCTCTAGATTACTTATAATACTTTTAATACAATA... | TTATTTTGATAATCATATTGCTTGATTTTTAGACATTCATACTTTATCATATAAAATAGGTGAATTTGAATTTCCTGTCTTGCTTTGAAATACAGTGCTTCATAATGCATTATGGCTATGGAATAATCACAAATAAGAATATACAGTCATCCCTTAGTATCCATGGGGGTTCAGTTCCAGAACCCCACTTCCTGCCATGAATACCAAAATTCACGGATGCTCAAGTCCTTTATAAAATAGTGTATTACTTGCATGTAACCTAGGTACATCCTCCTGTGTACTTTAATCTCTAGATTACTTATAATACTTTTAATACAATA... |
Task1_train_9348 | This gene mutation involves KCNN2, LOC101927078 (potassium calcium-activated channel subfamily N member 2| uncharacterized LOC101927078) on Chromosome 5. Is it associated with any clinical condition, or is it benign? | Pathogenic; Global developmental delay | TTATTTTGATAATCATATTGCTTGATTTTTAGACATTCATACTTTATCATATAAAATAGGTGAATTTGAATTTCCTGTCTTGCTTTGAAATACAGTGCTTCATAATGCATTATGGCTATGGAATAATCACAAATAAGAATATACAGTCATCCCTTAGTATCCATGGGGGTTCAGTTCCAGAACCCCACTTCCTGCCATGAATACCAAAATTCACGGATGCTCAAGTCCTTTATAAAATAGTGTATTACTTGCATGTAACCTAGGTACATCCTCCTGTGTACTTTAATCTCTAGATTACTTATAATACTTTTAATACAATA... | TTATTTTGATAATCATATTGCTTGATTTTTAGACATTCATACTTTATCATATAAAATAGGTGAATTTGAATTTCCTGTCTTGCTTTGAAATACAGTGCTTCATAATGCATTATGGCTATGGAATAATCACAAATAAGAATATACAGTCATCCCTTAGTATCCATGGGGGTTCAGTTCCAGAACCCCACTTCCTGCCATGAATACCAAAATTCACGGATGCTCAAGTCCTTTATAAAATAGTGTATTACTTGCATGTAACCTAGGTACATCCTCCTGTGTACTTTAATCTCTAGATTACTTATAATACTTTTAATACAATA... |
Task1_train_9349 | This sequence variant lies in KCNN2, LOC101927078 (potassium calcium-activated channel subfamily N member 2| uncharacterized LOC101927078) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autistic behavior | TTATTTTGATAATCATATTGCTTGATTTTTAGACATTCATACTTTATCATATAAAATAGGTGAATTTGAATTTCCTGTCTTGCTTTGAAATACAGTGCTTCATAATGCATTATGGCTATGGAATAATCACAAATAAGAATATACAGTCATCCCTTAGTATCCATGGGGGTTCAGTTCCAGAACCCCACTTCCTGCCATGAATACCAAAATTCACGGATGCTCAAGTCCTTTATAAAATAGTGTATTACTTGCATGTAACCTAGGTACATCCTCCTGTGTACTTTAATCTCTAGATTACTTATAATACTTTTAATACAATA... | TTATTTTGATAATCATATTGCTTGATTTTTAGACATTCATACTTTATCATATAAAATAGGTGAATTTGAATTTCCTGTCTTGCTTTGAAATACAGTGCTTCATAATGCATTATGGCTATGGAATAATCACAAATAAGAATATACAGTCATCCCTTAGTATCCATGGGGGTTCAGTTCCAGAACCCCACTTCCTGCCATGAATACCAAAATTCACGGATGCTCAAGTCCTTTATAAAATAGTGTATTACTTGCATGTAACCTAGGTACATCCTCCTGTGTACTTTAATCTCTAGATTACTTATAATACTTTTAATACAATA... |
Task1_train_9350 | This mutation occurs in KCNN2, LOC101927078 (potassium calcium-activated channel subfamily N member 2| uncharacterized LOC101927078) on Chromosome 5. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cerebellar ataxia | AATGCATCGGTCACCTTTTTAAAAGCGTATTGACTTTAGAAATAATTTGGCATTTGCTGTTTGTAGATGGGAATACAAATTGAAATCAAGTGCTATGTTCTACATTGAGGATTGCTATGTTCCATTGCTGTGTTTCTGACCCATTGGTTTTTACCTAGGGTTTTTAACTGGTTTTCCAGCTTCCTCACCAGGCAGGGATCTAGGCTTCTCCTCTATGCCTTCGACTGGTAAAATCAGAGAGAGAGCCTCCATCAGGGCCCCTTGCCAATCTTCCAGGTATCTACAGTTGCTTAGAGATCTGAGACTCTCTCTTTCCTCAC... | AATGCATCGGTCACCTTTTTAAAAGCGTATTGACTTTAGAAATAATTTGGCATTTGCTGTTTGTAGATGGGAATACAAATTGAAATCAAGTGCTATGTTCTACATTGAGGATTGCTATGTTCCATTGCTGTGTTTCTGACCCATTGGTTTTTACCTAGGGTTTTTAACTGGTTTTCCAGCTTCCTCACCAGGCAGGGATCTAGGCTTCTCCTCTATGCCTTCGACTGGTAAAATCAGAGAGAGAGCCTCCATCAGGGCCCCTTGCCAATCTTCCAGGTATCTACAGTTGCTTAGAGATCTGAGACTCTCTCTTTCCTCAC... |
Task1_train_9351 | Consider a variant on Chromosome 5 in gene KCNN2, LOC101927078 (potassium calcium-activated channel subfamily N member 2| uncharacterized LOC101927078). Determine its clinical classification and disease relevance. | Pathogenic; Global developmental delay | AATGCATCGGTCACCTTTTTAAAAGCGTATTGACTTTAGAAATAATTTGGCATTTGCTGTTTGTAGATGGGAATACAAATTGAAATCAAGTGCTATGTTCTACATTGAGGATTGCTATGTTCCATTGCTGTGTTTCTGACCCATTGGTTTTTACCTAGGGTTTTTAACTGGTTTTCCAGCTTCCTCACCAGGCAGGGATCTAGGCTTCTCCTCTATGCCTTCGACTGGTAAAATCAGAGAGAGAGCCTCCATCAGGGCCCCTTGCCAATCTTCCAGGTATCTACAGTTGCTTAGAGATCTGAGACTCTCTCTTTCCTCAC... | AATGCATCGGTCACCTTTTTAAAAGCGTATTGACTTTAGAAATAATTTGGCATTTGCTGTTTGTAGATGGGAATACAAATTGAAATCAAGTGCTATGTTCTACATTGAGGATTGCTATGTTCCATTGCTGTGTTTCTGACCCATTGGTTTTTACCTAGGGTTTTTAACTGGTTTTCCAGCTTCCTCACCAGGCAGGGATCTAGGCTTCTCCTCTATGCCTTCGACTGGTAAAATCAGAGAGAGAGCCTCCATCAGGGCCCCTTGCCAATCTTCCAGGTATCTACAGTTGCTTAGAGATCTGAGACTCTCTCTTTCCTCAC... |
Task1_train_9352 | The gene KCNN2, LOC101927078 (potassium calcium-activated channel subfamily N member 2| uncharacterized LOC101927078), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Dyskinesia | AATGCATCGGTCACCTTTTTAAAAGCGTATTGACTTTAGAAATAATTTGGCATTTGCTGTTTGTAGATGGGAATACAAATTGAAATCAAGTGCTATGTTCTACATTGAGGATTGCTATGTTCCATTGCTGTGTTTCTGACCCATTGGTTTTTACCTAGGGTTTTTAACTGGTTTTCCAGCTTCCTCACCAGGCAGGGATCTAGGCTTCTCCTCTATGCCTTCGACTGGTAAAATCAGAGAGAGAGCCTCCATCAGGGCCCCTTGCCAATCTTCCAGGTATCTACAGTTGCTTAGAGATCTGAGACTCTCTCTTTCCTCAC... | AATGCATCGGTCACCTTTTTAAAAGCGTATTGACTTTAGAAATAATTTGGCATTTGCTGTTTGTAGATGGGAATACAAATTGAAATCAAGTGCTATGTTCTACATTGAGGATTGCTATGTTCCATTGCTGTGTTTCTGACCCATTGGTTTTTACCTAGGGTTTTTAACTGGTTTTCCAGCTTCCTCACCAGGCAGGGATCTAGGCTTCTCCTCTATGCCTTCGACTGGTAAAATCAGAGAGAGAGCCTCCATCAGGGCCCCTTGCCAATCTTCCAGGTATCTACAGTTGCTTAGAGATCTGAGACTCTCTCTTTCCTCAC... |
Task1_train_9353 | Gene KCNN2, LOC101927078 (potassium calcium-activated channel subfamily N member 2| uncharacterized LOC101927078) on Chromosome 5 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Intellectual disability, mild | AATGCATCGGTCACCTTTTTAAAAGCGTATTGACTTTAGAAATAATTTGGCATTTGCTGTTTGTAGATGGGAATACAAATTGAAATCAAGTGCTATGTTCTACATTGAGGATTGCTATGTTCCATTGCTGTGTTTCTGACCCATTGGTTTTTACCTAGGGTTTTTAACTGGTTTTCCAGCTTCCTCACCAGGCAGGGATCTAGGCTTCTCCTCTATGCCTTCGACTGGTAAAATCAGAGAGAGAGCCTCCATCAGGGCCCCTTGCCAATCTTCCAGGTATCTACAGTTGCTTAGAGATCTGAGACTCTCTCTTTCCTCAC... | AATGCATCGGTCACCTTTTTAAAAGCGTATTGACTTTAGAAATAATTTGGCATTTGCTGTTTGTAGATGGGAATACAAATTGAAATCAAGTGCTATGTTCTACATTGAGGATTGCTATGTTCCATTGCTGTGTTTCTGACCCATTGGTTTTTACCTAGGGTTTTTAACTGGTTTTCCAGCTTCCTCACCAGGCAGGGATCTAGGCTTCTCCTCTATGCCTTCGACTGGTAAAATCAGAGAGAGAGCCTCCATCAGGGCCCCTTGCCAATCTTCCAGGTATCTACAGTTGCTTAGAGATCTGAGACTCTCTCTTTCCTCAC... |
Task1_train_9354 | Here’s a variant in TRIM36 (tripartite motif containing 36) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Anencephaly | AGGCACATTCATAGAGACAGAAATTAGAATCAAAGTTACCAGCCTCTGGGGAGAGGGGAAATAGGAGTAACTGTTTAATGGGTACAGGGTTTCAGTTTAGAATAATGAAAGTTAAGGAGGTAAAAGTGGTGATATTTAAACAATACTGTAAATGTACTTAATGCCAATGAGCTGTATACTTAAAAACTGTTAAGATAATACATTTTATCTTTATTACACCACAATTTAAAAAATGACCCCCAGGCATCATAGTGCACACCTTTAGTCCTAGCTACATGGGAGATAGGAGGATTACTTGAGTTCAGGAGTTTGAGGCCAGC... | AGGCACATTCATAGAGACAGAAATTAGAATCAAAGTTACCAGCCTCTGGGGAGAGGGGAAATAGGAGTAACTGTTTAATGGGTACAGGGTTTCAGTTTAGAATAATGAAAGTTAAGGAGGTAAAAGTGGTGATATTTAAACAATACTGTAAATGTACTTAATGCCAATGAGCTGTATACTTAAAAACTGTTAAGATAATACATTTTATCTTTATTACACCACAATTTAAAAAATGACCCCCAGGCATCATAGTGCACACCTTTAGTCCTAGCTACATGGGAGATAGGAGGATTACTTGAGTTCAGGAGTTTGAGGCCAGC... |
Task1_train_9355 | Located on Chromosome 5, this mutation impacts HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Perrault syndrome | ATGAGAACAACCTGTATTTAAATAGTTTTGCTGTTTCTTTATGTCTGTATTCAAAAATGAAGAGGAATGTTTTGAAAATGGCTGTGTTGTGTTTAGTAAGATGGGATAGGGTAGGAAGGAACTGGGCAGATGACTGAAGAGATGTGCTAGTAATTAGAATTTCATTTTCCACACACACACACACACATTTTGAAAGTCTAGAATAATTAATTGTTGTTTGCTTGTTTTTGCATTACAGTGAATGATTTGGGAGGGGACTTCAAAGGAGTTGGTAAAGGCTCCTTAGCTGCTGATAAGGTTGTTGAAGAAATAAGAAGGAG... | ATGAGAACAACCTGTATTTAAATAGTTTTGCTGTTTCTTTATGTCTGTATTCAAAAATGAAGAGGAATGTTTTGAAAATGGCTGTGTTGTGTTTAGTAAGATGGGATAGGGTAGGAAGGAACTGGGCAGATGACTGAAGAGATGTGCTAGTAATTAGAATTTCATTTTCCACACACACACACACACATTTTGAAAGTCTAGAATAATTAATTGTTGTTTGCTTGTTTTTGCATTACAGTGAATGATTTGGGAGGGGACTTCAAAGGAGTTGGTAAAGGCTCCTTAGCTGCTGATAAGGTTGTTGAAGAAATAAGAAGGAG... |
Task1_train_9356 | This variant affects gene HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; Bifunctional peroxisomal enzyme deficiency | ATGAGAACAACCTGTATTTAAATAGTTTTGCTGTTTCTTTATGTCTGTATTCAAAAATGAAGAGGAATGTTTTGAAAATGGCTGTGTTGTGTTTAGTAAGATGGGATAGGGTAGGAAGGAACTGGGCAGATGACTGAAGAGATGTGCTAGTAATTAGAATTTCATTTTCCACACACACACACACACATTTTGAAAGTCTAGAATAATTAATTGTTGTTTGCTTGTTTTTGCATTACAGTGAATGATTTGGGAGGGGACTTCAAAGGAGTTGGTAAAGGCTCCTTAGCTGCTGATAAGGTTGTTGAAGAAATAAGAAGGAG... | ATGAGAACAACCTGTATTTAAATAGTTTTGCTGTTTCTTTATGTCTGTATTCAAAAATGAAGAGGAATGTTTTGAAAATGGCTGTGTTGTGTTTAGTAAGATGGGATAGGGTAGGAAGGAACTGGGCAGATGACTGAAGAGATGTGCTAGTAATTAGAATTTCATTTTCCACACACACACACACACATTTTGAAAGTCTAGAATAATTAATTGTTGTTTGCTTGTTTTTGCATTACAGTGAATGATTTGGGAGGGGACTTCAAAGGAGTTGGTAAAGGCTCCTTAGCTGCTGATAAGGTTGTTGAAGAAATAAGAAGGAG... |
Task1_train_9357 | A genomic change on Chromosome 5 affects HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Bifunctional peroxisomal enzyme deficiency | ACTGGGCAGATGACTGAAGAGATGTGCTAGTAATTAGAATTTCATTTTCCACACACACACACACACATTTTGAAAGTCTAGAATAATTAATTGTTGTTTGCTTGTTTTTGCATTACAGTGAATGATTTGGGAGGGGACTTCAAAGGAGTTGGTAAAGGCTCCTTAGCTGCTGATAAGGTTGTTGAAGAAATAAGAAGGAGAGGTGGAAAAGCAGTGGCCAACTATGGTATGGTATTTGAGAGAACTATACTATTTATTTTCCTTCAACTAATGCTATTTGTCACATTAATAATCTTTGAGCAAATATCTCAGTATTCCAG... | ACTGGGCAGATGACTGAAGAGATGTGCTAGTAATTAGAATTTCATTTTCCACACACACACACACACATTTTGAAAGTCTAGAATAATTAATTGTTGTTTGCTTGTTTTTGCATTACAGTGAATGATTTGGGAGGGGACTTCAAAGGAGTTGGTAAAGGCTCCTTAGCTGCTGATAAGGTTGTTGAAGAAATAAGAAGGAGAGGTGGAAAAGCAGTGGCCAACTATGGTATGGTATTTGAGAGAACTATACTATTTATTTTCCTTCAACTAATGCTATTTGTCACATTAATAATCTTTGAGCAAATATCTCAGTATTCCAG... |
Task1_train_9358 | A mutation in HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4), located on Chromosome 5, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Perrault syndrome 1 | AACTTGACAATTAAAATCTAGAATTGTCTGTCTGAATGTTTCATAAGTGGTCTGTTCGTTAGATTGAAATTTGTGAAAACAGGCCTCTCACTAACTCATTTGCAAATGGTAACAATAGGGATCTAGTGAGTATTTTGTAAATATTTCTTAATGAGCTATGTGATTTATGATTATGCCTTAACTGATGTTAGTGTTGGGTGCCAGTTATATTTATAAAAATCTTGGATTTTATATTAGCAAAATTTTTATATGAAGTAGGCATAAAATAAGGGCGTAGCATTATATTTAGATGTGTATAGGCATTACATTAATTTTACAAA... | AACTTGACAATTAAAATCTAGAATTGTCTGTCTGAATGTTTCATAAGTGGTCTGTTCGTTAGATTGAAATTTGTGAAAACAGGCCTCTCACTAACTCATTTGCAAATGGTAACAATAGGGATCTAGTGAGTATTTTGTAAATATTTCTTAATGAGCTATGTGATTTATGATTATGCCTTAACTGATGTTAGTGTTGGGTGCCAGTTATATTTATAAAAATCTTGGATTTTATATTAGCAAAATTTTTATATGAAGTAGGCATAAAATAAGGGCGTAGCATTATATTTAGATGTGTATAGGCATTACATTAATTTTACAAA... |
Task1_train_9359 | This variant lies on Chromosome 5 and affects the gene HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not specified | TTGTTATTTGTATCATTCTCAGGGCAACCCTGCCTTCCCTGTAGCATGTAGCACTAGGGACTCTTTTCTATTTTTTTTTTTTTTTTTTCTGGTTGGAGGATACCTTCTTTATCTCAGTAATGCTTTAAAAGAATCTCATTTCTGGAAGCAGAAGTATTCCTCAGAGTACTTGGCTCACTGTAATGCTAGATATCCTGACATCTAGTATTGTGGAAGAAACACTGGGTTGAGTAAGTAAACCTTTCTATTTTTGATTTCATATAACTTTATATCTTAATAGCTATGGGACTTCTCTGATCTTTTATTTACTCTCTTAAGGT... | TTGTTATTTGTATCATTCTCAGGGCAACCCTGCCTTCCCTGTAGCATGTAGCACTAGGGACTCTTTTCTATTTTTTTTTTTTTTTTTTCTGGTTGGAGGATACCTTCTTTATCTCAGTAATGCTTTAAAAGAATCTCATTTCTGGAAGCAGAAGTATTCCTCAGAGTACTTGGCTCACTGTAATGCTAGATATCCTGACATCTAGTATTGTGGAAGAAACACTGGGTTGAGTAAGTAAACCTTTCTATTTTTGATTTCATATAACTTTATATCTTAATAGCTATGGGACTTCTCTGATCTTTTATTTACTCTCTTAAGGT... |
Task1_train_9360 | An alteration has been detected in HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4) on Chromosome 5. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Bifunctional peroxisomal enzyme deficiency | TGACATCAGATTCATTCTTTTCTATTACATGCATTTCTACTTCATTGTACTGTTTTACGTTTGTGCTCCGATAACATGAGCAGTGCAAAGTCATGGGGGCCAGTGGACTCTTACAGAGCTGTATTATTTTCATCTCCTGTTGCCTTGAATTCTAATACTGCTAGTAGAGGAGCTGACTTTTTTCTAATTAAAACAATTGTATTAGTGATTTCACATTAGATGGTATAATGTTTTCCCCCTCTTTTTGGTAGGTTGGAGCAGGATGGATTGGAAAATGTAAGTCTCTCTCAGTTTTTGGTTTGTATAGATTATTTCCTTAT... | TGACATCAGATTCATTCTTTTCTATTACATGCATTTCTACTTCATTGTACTGTTTTACGTTTGTGCTCCGATAACATGAGCAGTGCAAAGTCATGGGGGCCAGTGGACTCTTACAGAGCTGTATTATTTTCATCTCCTGTTGCCTTGAATTCTAATACTGCTAGTAGAGGAGCTGACTTTTTTCTAATTAAAACAATTGTATTAGTGATTTCACATTAGATGGTATAATGTTTTCCCCCTCTTTTTGGTAGGTTGGAGCAGGATGGATTGGAAAATGTAAGTCTCTCTCAGTTTTTGGTTTGTATAGATTATTTCCTTAT... |
Task1_train_9361 | A variant has been detected on Chromosome 5 in HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Bifunctional peroxisomal enzyme deficiency | TGACATCAGATTCATTCTTTTCTATTACATGCATTTCTACTTCATTGTACTGTTTTACGTTTGTGCTCCGATAACATGAGCAGTGCAAAGTCATGGGGGCCAGTGGACTCTTACAGAGCTGTATTATTTTCATCTCCTGTTGCCTTGAATTCTAATACTGCTAGTAGAGGAGCTGACTTTTTTCTAATTAAAACAATTGTATTAGTGATTTCACATTAGATGGTATAATGTTTTCCCCCTCTTTTTGGTAGGTTGGAGCAGGATGGATTGGAAAATGTAAGTCTCTCTCAGTTTTTGGTTTGTATAGATTATTTCCTTAT... | TGACATCAGATTCATTCTTTTCTATTACATGCATTTCTACTTCATTGTACTGTTTTACGTTTGTGCTCCGATAACATGAGCAGTGCAAAGTCATGGGGGCCAGTGGACTCTTACAGAGCTGTATTATTTTCATCTCCTGTTGCCTTGAATTCTAATACTGCTAGTAGAGGAGCTGACTTTTTTCTAATTAAAACAATTGTATTAGTGATTTCACATTAGATGGTATAATGTTTTCCCCCTCTTTTTGGTAGGTTGGAGCAGGATGGATTGGAAAATGTAAGTCTCTCTCAGTTTTTGGTTTGTATAGATTATTTCCTTAT... |
Task1_train_9362 | A change on Chromosome 5 affects gene HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Perrault syndrome | TGACATCAGATTCATTCTTTTCTATTACATGCATTTCTACTTCATTGTACTGTTTTACGTTTGTGCTCCGATAACATGAGCAGTGCAAAGTCATGGGGGCCAGTGGACTCTTACAGAGCTGTATTATTTTCATCTCCTGTTGCCTTGAATTCTAATACTGCTAGTAGAGGAGCTGACTTTTTTCTAATTAAAACAATTGTATTAGTGATTTCACATTAGATGGTATAATGTTTTCCCCCTCTTTTTGGTAGGTTGGAGCAGGATGGATTGGAAAATGTAAGTCTCTCTCAGTTTTTGGTTTGTATAGATTATTTCCTTAT... | TGACATCAGATTCATTCTTTTCTATTACATGCATTTCTACTTCATTGTACTGTTTTACGTTTGTGCTCCGATAACATGAGCAGTGCAAAGTCATGGGGGCCAGTGGACTCTTACAGAGCTGTATTATTTTCATCTCCTGTTGCCTTGAATTCTAATACTGCTAGTAGAGGAGCTGACTTTTTTCTAATTAAAACAATTGTATTAGTGATTTCACATTAGATGGTATAATGTTTTCCCCCTCTTTTTGGTAGGTTGGAGCAGGATGGATTGGAAAATGTAAGTCTCTCTCAGTTTTTGGTTTGTATAGATTATTTCCTTAT... |
Task1_train_9363 | A variant on Chromosome 5 in gene LOX, SRFBP1 (lysyl oxidase| serum response factor binding protein 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Congenital aneurysm of ascending aorta | TGGTGTCCTTCTGCTCTTATTTGCATTATTAAAAGAGGCAACTTTTTAAAGTGCTTTTAAAGAAACTTATTTTTCCTCCATTTGCTAACCGCAACCACTATTCTATTTTCAGCATAAAACAGAAGGAAGGAATGGTTTCACAGGTGAAAAAACAGAGATATCTTTTTTTACAGTTATTTACTAAGCCGGTTAAGGAATACAGAATGGGTGCATATGTTGTCAACCATTCAGACTTTTTCAGAGAGTAAATTTTTGTTCTTCATTGTGGACTGTAACAAGGACCCACACTGACCTGTGATCATGAATAGGGGCCACATGCA... | TGGTGTCCTTCTGCTCTTATTTGCATTATTAAAAGAGGCAACTTTTTAAAGTGCTTTTAAAGAAACTTATTTTTCCTCCATTTGCTAACCGCAACCACTATTCTATTTTCAGCATAAAACAGAAGGAAGGAATGGTTTCACAGGTGAAAAAACAGAGATATCTTTTTTTACAGTTATTTACTAAGCCGGTTAAGGAATACAGAATGGGTGCATATGTTGTCAACCATTCAGACTTTTTCAGAGAGTAAATTTTTGTTCTTCATTGTGGACTGTAACAAGGACCCACACTGACCTGTGATCATGAATAGGGGCCACATGCA... |
Task1_train_9364 | The gene LOX, SRFBP1 (lysyl oxidase| serum response factor binding protein 1), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Acute aortic dissection | TGGTGTCCTTCTGCTCTTATTTGCATTATTAAAAGAGGCAACTTTTTAAAGTGCTTTTAAAGAAACTTATTTTTCCTCCATTTGCTAACCGCAACCACTATTCTATTTTCAGCATAAAACAGAAGGAAGGAATGGTTTCACAGGTGAAAAAACAGAGATATCTTTTTTTACAGTTATTTACTAAGCCGGTTAAGGAATACAGAATGGGTGCATATGTTGTCAACCATTCAGACTTTTTCAGAGAGTAAATTTTTGTTCTTCATTGTGGACTGTAACAAGGACCCACACTGACCTGTGATCATGAATAGGGGCCACATGCA... | TGGTGTCCTTCTGCTCTTATTTGCATTATTAAAAGAGGCAACTTTTTAAAGTGCTTTTAAAGAAACTTATTTTTCCTCCATTTGCTAACCGCAACCACTATTCTATTTTCAGCATAAAACAGAAGGAAGGAATGGTTTCACAGGTGAAAAAACAGAGATATCTTTTTTTACAGTTATTTACTAAGCCGGTTAAGGAATACAGAATGGGTGCATATGTTGTCAACCATTCAGACTTTTTCAGAGAGTAAATTTTTGTTCTTCATTGTGGACTGTAACAAGGACCCACACTGACCTGTGATCATGAATAGGGGCCACATGCA... |
Task1_train_9365 | A change on Chromosome 5 affects gene LOX, SRFBP1 (lysyl oxidase| serum response factor binding protein 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Aortic aneurysm, familial thoracic 10 | TGGTGTCCTTCTGCTCTTATTTGCATTATTAAAAGAGGCAACTTTTTAAAGTGCTTTTAAAGAAACTTATTTTTCCTCCATTTGCTAACCGCAACCACTATTCTATTTTCAGCATAAAACAGAAGGAAGGAATGGTTTCACAGGTGAAAAAACAGAGATATCTTTTTTTACAGTTATTTACTAAGCCGGTTAAGGAATACAGAATGGGTGCATATGTTGTCAACCATTCAGACTTTTTCAGAGAGTAAATTTTTGTTCTTCATTGTGGACTGTAACAAGGACCCACACTGACCTGTGATCATGAATAGGGGCCACATGCA... | TGGTGTCCTTCTGCTCTTATTTGCATTATTAAAAGAGGCAACTTTTTAAAGTGCTTTTAAAGAAACTTATTTTTCCTCCATTTGCTAACCGCAACCACTATTCTATTTTCAGCATAAAACAGAAGGAAGGAATGGTTTCACAGGTGAAAAAACAGAGATATCTTTTTTTACAGTTATTTACTAAGCCGGTTAAGGAATACAGAATGGGTGCATATGTTGTCAACCATTCAGACTTTTTCAGAGAGTAAATTTTTGTTCTTCATTGTGGACTGTAACAAGGACCCACACTGACCTGTGATCATGAATAGGGGCCACATGCA... |
Task1_train_9366 | A variant found in Chromosome 5 affects SRFBP1, LOX (serum response factor binding protein 1| lysyl oxidase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Congenital aneurysm of ascending aorta | AACTTTTTAAAGTGCTTTTAAAGAAACTTATTTTTCCTCCATTTGCTAACCGCAACCACTATTCTATTTTCAGCATAAAACAGAAGGAAGGAATGGTTTCACAGGTGAAAAAACAGAGATATCTTTTTTTACAGTTATTTACTAAGCCGGTTAAGGAATACAGAATGGGTGCATATGTTGTCAACCATTCAGACTTTTTCAGAGAGTAAATTTTTGTTCTTCATTGTGGACTGTAACAAGGACCCACACTGACCTGTGATCATGAATAGGGGCCACATGCATAACTGGAAATACTTCAAAAGTAATTTGGATCATCAAGC... | AACTTTTTAAAGTGCTTTTAAAGAAACTTATTTTTCCTCCATTTGCTAACCGCAACCACTATTCTATTTTCAGCATAAAACAGAAGGAAGGAATGGTTTCACAGGTGAAAAAACAGAGATATCTTTTTTTACAGTTATTTACTAAGCCGGTTAAGGAATACAGAATGGGTGCATATGTTGTCAACCATTCAGACTTTTTCAGAGAGTAAATTTTTGTTCTTCATTGTGGACTGTAACAAGGACCCACACTGACCTGTGATCATGAATAGGGGCCACATGCATAACTGGAAATACTTCAAAAGTAATTTGGATCATCAAGC... |
Task1_train_9367 | A genetic alteration is present in SRFBP1, LOX (serum response factor binding protein 1| lysyl oxidase) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Acute aortic dissection | AACTTTTTAAAGTGCTTTTAAAGAAACTTATTTTTCCTCCATTTGCTAACCGCAACCACTATTCTATTTTCAGCATAAAACAGAAGGAAGGAATGGTTTCACAGGTGAAAAAACAGAGATATCTTTTTTTACAGTTATTTACTAAGCCGGTTAAGGAATACAGAATGGGTGCATATGTTGTCAACCATTCAGACTTTTTCAGAGAGTAAATTTTTGTTCTTCATTGTGGACTGTAACAAGGACCCACACTGACCTGTGATCATGAATAGGGGCCACATGCATAACTGGAAATACTTCAAAAGTAATTTGGATCATCAAGC... | AACTTTTTAAAGTGCTTTTAAAGAAACTTATTTTTCCTCCATTTGCTAACCGCAACCACTATTCTATTTTCAGCATAAAACAGAAGGAAGGAATGGTTTCACAGGTGAAAAAACAGAGATATCTTTTTTTACAGTTATTTACTAAGCCGGTTAAGGAATACAGAATGGGTGCATATGTTGTCAACCATTCAGACTTTTTCAGAGAGTAAATTTTTGTTCTTCATTGTGGACTGTAACAAGGACCCACACTGACCTGTGATCATGAATAGGGGCCACATGCATAACTGGAAATACTTCAAAAGTAATTTGGATCATCAAGC... |
Task1_train_9368 | A variant was discovered in gene SRFBP1, LOX (serum response factor binding protein 1| lysyl oxidase), Chromosome 5. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Aortic aneurysm, familial thoracic 10 | AACTTTTTAAAGTGCTTTTAAAGAAACTTATTTTTCCTCCATTTGCTAACCGCAACCACTATTCTATTTTCAGCATAAAACAGAAGGAAGGAATGGTTTCACAGGTGAAAAAACAGAGATATCTTTTTTTACAGTTATTTACTAAGCCGGTTAAGGAATACAGAATGGGTGCATATGTTGTCAACCATTCAGACTTTTTCAGAGAGTAAATTTTTGTTCTTCATTGTGGACTGTAACAAGGACCCACACTGACCTGTGATCATGAATAGGGGCCACATGCATAACTGGAAATACTTCAAAAGTAATTTGGATCATCAAGC... | AACTTTTTAAAGTGCTTTTAAAGAAACTTATTTTTCCTCCATTTGCTAACCGCAACCACTATTCTATTTTCAGCATAAAACAGAAGGAAGGAATGGTTTCACAGGTGAAAAAACAGAGATATCTTTTTTTACAGTTATTTACTAAGCCGGTTAAGGAATACAGAATGGGTGCATATGTTGTCAACCATTCAGACTTTTTCAGAGAGTAAATTTTTGTTCTTCATTGTGGACTGTAACAAGGACCCACACTGACCTGTGATCATGAATAGGGGCCACATGCATAACTGGAAATACTTCAAAAGTAATTTGGATCATCAAGC... |
Task1_train_9369 | A variant was discovered in gene LOX, SRFBP1 (lysyl oxidase| serum response factor binding protein 1), Chromosome 5. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | ACTATTCTATTTTCAGCATAAAACAGAAGGAAGGAATGGTTTCACAGGTGAAAAAACAGAGATATCTTTTTTTACAGTTATTTACTAAGCCGGTTAAGGAATACAGAATGGGTGCATATGTTGTCAACCATTCAGACTTTTTCAGAGAGTAAATTTTTGTTCTTCATTGTGGACTGTAACAAGGACCCACACTGACCTGTGATCATGAATAGGGGCCACATGCATAACTGGAAATACTTCAAAAGTAATTTGGATCATCAAGCCATCATTTGCCTTTTCCCAATTATTTTACATCTTAACAACATGGACCTCAAATTGAA... | ACTATTCTATTTTCAGCATAAAACAGAAGGAAGGAATGGTTTCACAGGTGAAAAAACAGAGATATCTTTTTTTACAGTTATTTACTAAGCCGGTTAAGGAATACAGAATGGGTGCATATGTTGTCAACCATTCAGACTTTTTCAGAGAGTAAATTTTTGTTCTTCATTGTGGACTGTAACAAGGACCCACACTGACCTGTGATCATGAATAGGGGCCACATGCATAACTGGAAATACTTCAAAAGTAATTTGGATCATCAAGCCATCATTTGCCTTTTCCCAATTATTTTACATCTTAACAACATGGACCTCAAATTGAA... |
Task1_train_9370 | This variant affects gene PRDM6 (PR/SET domain 6) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; Patent ductus arteriosus 3 | CTTTGTGCAAGGGAGGCCCAGCGGCATGGACACTTCTCTGCTTTCCGAAACAAGTTGTTGCTTTTCACTTCAGAGGTCTGGGGACATTTCTGAGAAGCTTGCAGCCCTCATTCTTCCAGCTCTCTTGGGAGGAGTAGAGGAGTAGCTGCTGACTGAGGCAAAGGTTTGGCTGGCTAGAGCCCCCTCCAGTGAGACAGGAGGCTTACATAGTCAGCCCTCCTTTGCTGTGAAGCAAATGGCAAATCGAGGGCTCCCTTACCATGCTGGGTTGCGATTAGCTGTTCCTGACACAAACGTTTCATACAGACTCACAAGTTTCT... | CTTTGTGCAAGGGAGGCCCAGCGGCATGGACACTTCTCTGCTTTCCGAAACAAGTTGTTGCTTTTCACTTCAGAGGTCTGGGGACATTTCTGAGAAGCTTGCAGCCCTCATTCTTCCAGCTCTCTTGGGAGGAGTAGAGGAGTAGCTGCTGACTGAGGCAAAGGTTTGGCTGGCTAGAGCCCCCTCCAGTGAGACAGGAGGCTTACATAGTCAGCCCTCCTTTGCTGTGAAGCAAATGGCAAATCGAGGGCTCCCTTACCATGCTGGGTTGCGATTAGCTGTTCCTGACACAAACGTTTCATACAGACTCACAAGTTTCT... |
Task1_train_9371 | This variant lies on Chromosome 5 and affects the gene PRDM6 (PR/SET domain 6). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Patent ductus arteriosus 3 | TGAGGATGCCTGCATCTTCGTGCCATGTAGCATTCTCAGAGATGATCTGTGGCACAGCATGAGGAGTGCTCCCAGGTCATGTGTTTCCTGCCACGCGGCCTTGAACTGGTGGCCAGTGGCCATAGTCTGCATTATTTTGTTACTTGCTATCACAGTCTTTTTGCCAATATCCTTTTCAAAATTTTTGGTCTCTAATTTCATTCTCTTGACCACCTGGTAACTTTAATCTCTCAGCCTTGAAATGATCCATAGATATAGTAGTTAAAATAAAAAAAGAAGAATTTTTAAGCCTATTAGGTTCTAATCACTTCTGGACCTAT... | TGAGGATGCCTGCATCTTCGTGCCATGTAGCATTCTCAGAGATGATCTGTGGCACAGCATGAGGAGTGCTCCCAGGTCATGTGTTTCCTGCCACGCGGCCTTGAACTGGTGGCCAGTGGCCATAGTCTGCATTATTTTGTTACTTGCTATCACAGTCTTTTTGCCAATATCCTTTTCAAAATTTTTGGTCTCTAATTTCATTCTCTTGACCACCTGGTAACTTTAATCTCTCAGCCTTGAAATGATCCATAGATATAGTAGTTAAAATAAAAAAAGAAGAATTTTTAAGCCTATTAGGTTCTAATCACTTCTGGACCTAT... |
Task1_train_9372 | This variant impacts the gene PRDM6 (PR/SET domain 6) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; Patent ductus arteriosus 3 | TTGTGATAGCCATTAAAAATAGATAACCAGAGGCTAATAAATGTTAATGGTCCCTTCACTATTAGAAAAATCAATTGTCAGTGAATATAGCATATATTAATATATTATTTTGTTTATAATCTTCAATAACAGTTTAGAAAATTCAACCCTGAGAGAATTATTTTTTCAGGAACCCTTTCAAGTTTAATGTTTGCCACAAAGAACAGATTCGGCAGGAGGACATTTTCATCTACATATAATTTTAATGGTTTTCAAAGGATTATTTTATGATTATAATAAAATGCATGTGTAATTTGGCAAGATTGATAAACTCCTTACCA... | TTGTGATAGCCATTAAAAATAGATAACCAGAGGCTAATAAATGTTAATGGTCCCTTCACTATTAGAAAAATCAATTGTCAGTGAATATAGCATATATTAATATATTATTTTGTTTATAATCTTCAATAACAGTTTAGAAAATTCAACCCTGAGAGAATTATTTTTTCAGGAACCCTTTCAAGTTTAATGTTTGCCACAAAGAACAGATTCGGCAGGAGGACATTTTCATCTACATATAATTTTAATGGTTTTCAAAGGATTATTTTATGATTATAATAAAATGCATGTGTAATTTGGCAAGATTGATAAACTCCTTACCA... |
Task1_train_9373 | Here is a mutation in CEP120 (centrosomal protein 120) on Chromosome 5. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Short-rib thoracic dysplasia 13 with or without polydactyly | AAACTAGACTTTCTCCATGAAAAACCACAGAAATTTTAAAGGTAAATCTGATTTTACCCTAAAATATTTGATATTTTCCTGTTACTAGGAAACTTATTCACCCACCCATGCCTGCACCCACTCACTGATTTATCTACTGTGGTCATACTCATTAACTCCTAGGCAAAATCAGTGTAAAAACATTCGATGCCACTTACAAATGGAATGGGTATTGCTAAAAGGACTACAAAACAGTGTTAATATTTCAGACTCCCCTAGTTGTAAGACAAAAAATAGTATGTAAACACTTGAGAAAAAAAGACAGTCATTTGAAATAGGAA... | AAACTAGACTTTCTCCATGAAAAACCACAGAAATTTTAAAGGTAAATCTGATTTTACCCTAAAATATTTGATATTTTCCTGTTACTAGGAAACTTATTCACCCACCCATGCCTGCACCCACTCACTGATTTATCTACTGTGGTCATACTCATTAACTCCTAGGCAAAATCAGTGTAAAAACATTCGATGCCACTTACAAATGGAATGGGTATTGCTAAAAGGACTACAAAACAGTGTTAATATTTCAGACTCCCCTAGTTGTAAGACAAAAAATAGTATGTAAACACTTGAGAAAAAAAGACAGTCATTTGAAATAGGAA... |
Task1_train_9374 | A mutation on Chromosome 5 affecting CEP120 (centrosomal protein 120) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Joubert syndrome 31 | CCAGATAATGCAGCAAACATGAAGATCCTGTGGTTGAAGTGAGCATGGCATGCCTGAGAACTTGAGGGCAGACAAGCACGGGCAGAGAGTACACAGCACAGGCACAAGAGTGGGAGATGAAGTCAGAGAGACAGGCTCTGATCTATGCAGAGGCCTGCAGGACAAGGCAATGATTCTGATCTTTTTCCTATGAGCAACAAGACAATGCTGAAAGGTTTTAAAGAGGAGAGTATCAAGATTCCCAATTTCAAAAATATCATTCTGGCTACAACATGAGGAGCAGATTAGAGGGGCCCATCACTGAAACAAAGAACATTTAC... | CCAGATAATGCAGCAAACATGAAGATCCTGTGGTTGAAGTGAGCATGGCATGCCTGAGAACTTGAGGGCAGACAAGCACGGGCAGAGAGTACACAGCACAGGCACAAGAGTGGGAGATGAAGTCAGAGAGACAGGCTCTGATCTATGCAGAGGCCTGCAGGACAAGGCAATGATTCTGATCTTTTTCCTATGAGCAACAAGACAATGCTGAAAGGTTTTAAAGAGGAGAGTATCAAGATTCCCAATTTCAAAAATATCATTCTGGCTACAACATGAGGAGCAGATTAGAGGGGCCCATCACTGAAACAAAGAACATTTAC... |
Task1_train_9375 | This genomic variant is located on Chromosome 5, within the CEP120 (centrosomal protein 120) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Short-rib thoracic dysplasia 13 with or without polydactyly | CCTGAGGTCAGGAGTTTGAGACCAACCTGGCAAATATGGTGAAACCCCATCTCTACTAAAACTATAAAAACTGGCCAGGTGTGATGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGGTGAGGCAGGAGAATCACTTGAACCGGGAAGGCAGAGGTTGTAGTGAGCTGAGATTGCACCATTGCACTCCAGCCTGGGTGACAAGAGCGAGGCTCCACCTCAAAAAAATAAAAATAAAAAATAAAATGCTTTGCAAATATGGTAACAACACAGTAAAAATACAGTACATTCCTAATTATCTGACATATAGACAAGAGTGTT... | CCTGAGGTCAGGAGTTTGAGACCAACCTGGCAAATATGGTGAAACCCCATCTCTACTAAAACTATAAAAACTGGCCAGGTGTGATGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGGTGAGGCAGGAGAATCACTTGAACCGGGAAGGCAGAGGTTGTAGTGAGCTGAGATTGCACCATTGCACTCCAGCCTGGGTGACAAGAGCGAGGCTCCACCTCAAAAAAATAAAAATAAAAAATAAAATGCTTTGCAAATATGGTAACAACACAGTAAAAATACAGTACATTCCTAATTATCTGACATATAGACAAGAGTGTT... |
Task1_train_9376 | This variant lies on Chromosome 5 and affects the gene CEP120 (centrosomal protein 120). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Joubert syndrome 31 | TTTGAGACCAACCTGGCAAATATGGTGAAACCCCATCTCTACTAAAACTATAAAAACTGGCCAGGTGTGATGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGGTGAGGCAGGAGAATCACTTGAACCGGGAAGGCAGAGGTTGTAGTGAGCTGAGATTGCACCATTGCACTCCAGCCTGGGTGACAAGAGCGAGGCTCCACCTCAAAAAAATAAAAATAAAAAATAAAATGCTTTGCAAATATGGTAACAACACAGTAAAAATACAGTACATTCCTAATTATCTGACATATAGACAAGAGTGTTCTGATGTGGTTAAT... | TTTGAGACCAACCTGGCAAATATGGTGAAACCCCATCTCTACTAAAACTATAAAAACTGGCCAGGTGTGATGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGGTGAGGCAGGAGAATCACTTGAACCGGGAAGGCAGAGGTTGTAGTGAGCTGAGATTGCACCATTGCACTCCAGCCTGGGTGACAAGAGCGAGGCTCCACCTCAAAAAAATAAAAATAAAAAATAAAATGCTTTGCAAATATGGTAACAACACAGTAAAAATACAGTACATTCCTAATTATCTGACATATAGACAAGAGTGTTCTGATGTGGTTAAT... |
Task1_train_9377 | This sequence variant lies in ALDH7A1 (aldehyde dehydrogenase 7 family member A1) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Pyridoxine-dependent epilepsy | ATTTTGGCCTCAGAGTCCTCCAGCAGGTGGCAGACTCCAGCACAGGAACAAAATCTGTCTACCCCAGAAATCTCTTCCAAGTTGACACAGCCTTCATAAGCAAGAGCCATAACTGTGATGAATGCCTGTTGTCATTTTAAGCACTGCAAGTTATTCCACATGAATACTGAACTGTGGTCCAAGCATACAGGGGAATGCATCCCCCTTTCAATCACACGACATCCAACACATGCCATAGGTGGGTAATGTCAAGCAATATTCACCCCCCGCCCCTGAATCCTTCACTTGGTCAGGAGACACCCTGTATCTACTGCAAAGAC... | ATTTTGGCCTCAGAGTCCTCCAGCAGGTGGCAGACTCCAGCACAGGAACAAAATCTGTCTACCCCAGAAATCTCTTCCAAGTTGACACAGCCTTCATAAGCAAGAGCCATAACTGTGATGAATGCCTGTTGTCATTTTAAGCACTGCAAGTTATTCCACATGAATACTGAACTGTGGTCCAAGCATACAGGGGAATGCATCCCCCTTTCAATCACACGACATCCAACACATGCCATAGGTGGGTAATGTCAAGCAATATTCACCCCCCGCCCCTGAATCCTTCACTTGGTCAGGAGACACCCTGTATCTACTGCAAAGAC... |
Task1_train_9378 | Given this context: Chromosome 5, gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Pyridoxine-dependent epilepsy | CTCCAGCACAGGAACAAAATCTGTCTACCCCAGAAATCTCTTCCAAGTTGACACAGCCTTCATAAGCAAGAGCCATAACTGTGATGAATGCCTGTTGTCATTTTAAGCACTGCAAGTTATTCCACATGAATACTGAACTGTGGTCCAAGCATACAGGGGAATGCATCCCCCTTTCAATCACACGACATCCAACACATGCCATAGGTGGGTAATGTCAAGCAATATTCACCCCCCGCCCCTGAATCCTTCACTTGGTCAGGAGACACCCTGTATCTACTGCAAAGACTTCTGTTTTCTCCTCGGTTCTGTATTTTCCCAAA... | CTCCAGCACAGGAACAAAATCTGTCTACCCCAGAAATCTCTTCCAAGTTGACACAGCCTTCATAAGCAAGAGCCATAACTGTGATGAATGCCTGTTGTCATTTTAAGCACTGCAAGTTATTCCACATGAATACTGAACTGTGGTCCAAGCATACAGGGGAATGCATCCCCCTTTCAATCACACGACATCCAACACATGCCATAGGTGGGTAATGTCAAGCAATATTCACCCCCCGCCCCTGAATCCTTCACTTGGTCAGGAGACACCCTGTATCTACTGCAAAGACTTCTGTTTTCTCCTCGGTTCTGTATTTTCCCAAA... |
Task1_train_9379 | A sequence alteration has been identified in ALDH7A1 (aldehyde dehydrogenase 7 family member A1) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Pyridoxine-dependent epilepsy | TAAAAAAATACAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCACGAGGTTGAGGCGGGAGAATTGCTTGAACTGGGGAGGTGGATGTTGCAGCGAGCCAATATTGCACCACTGCACTCCAGCATAGGCAACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAGAATCTCAATGTAGCCTCTGGGAAAGGAGGAGGAGAAGAAAAGTATGAGCAAAACTACTTTTTCCATTATAAGACTTTTTTAAAACTTTTATTTATTTAGAGACAGGGTCACACTCACTCTGTCACCCAGGCTGAAGTGCAG... | TAAAAAAATACAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCACGAGGTTGAGGCGGGAGAATTGCTTGAACTGGGGAGGTGGATGTTGCAGCGAGCCAATATTGCACCACTGCACTCCAGCATAGGCAACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAGAATCTCAATGTAGCCTCTGGGAAAGGAGGAGGAGAAGAAAAGTATGAGCAAAACTACTTTTTCCATTATAAGACTTTTTTAAAACTTTTATTTATTTAGAGACAGGGTCACACTCACTCTGTCACCCAGGCTGAAGTGCAG... |
Task1_train_9380 | This variant lies on Chromosome 5 and affects the gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pyridoxine-dependent epilepsy | GCTACTCACGAGGTTGAGGCGGGAGAATTGCTTGAACTGGGGAGGTGGATGTTGCAGCGAGCCAATATTGCACCACTGCACTCCAGCATAGGCAACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAGAATCTCAATGTAGCCTCTGGGAAAGGAGGAGGAGAAGAAAAGTATGAGCAAAACTACTTTTTCCATTATAAGACTTTTTTAAAACTTTTATTTATTTAGAGACAGGGTCACACTCACTCTGTCACCCAGGCTGAAGTGCAGTGGTGGGATCATGGCTTACTACAGCCTCAAACTCTTGGCTTAAGCGAGCCT... | GCTACTCACGAGGTTGAGGCGGGAGAATTGCTTGAACTGGGGAGGTGGATGTTGCAGCGAGCCAATATTGCACCACTGCACTCCAGCATAGGCAACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAGAATCTCAATGTAGCCTCTGGGAAAGGAGGAGGAGAAGAAAAGTATGAGCAAAACTACTTTTTCCATTATAAGACTTTTTTAAAACTTTTATTTATTTAGAGACAGGGTCACACTCACTCTGTCACCCAGGCTGAAGTGCAGTGGTGGGATCATGGCTTACTACAGCCTCAAACTCTTGGCTTAAGCGAGCCT... |
Task1_train_9381 | This variant affects the gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Pyridoxine-dependent epilepsy | CCCAGGCTGAAGTGCAGTGGTGGGATCATGGCTTACTACAGCCTCAAACTCTTGGCTTAAGCGAGCCTTGCACCTCAGACTCACGAGTAGCTGGGAATACAAGTGTGTGACACCACAACTGGCTAGTTTTTTTTAATTTTTGTAGAGACAGGGTCCTACCATGTTGCCCAGGTTCATCTCAAACTCCTGGGCTTAAGCAATTACAGGCATGAGCCACCATGCCCAGCCCAAAACTTTTTTTTTTTTTTTGCGGGGGAAGACAGGGTCTCACTCTGTCCCCAGACTTGAGTGCACTGGCACAATCTTGGCTCACTGCAACC... | CCCAGGCTGAAGTGCAGTGGTGGGATCATGGCTTACTACAGCCTCAAACTCTTGGCTTAAGCGAGCCTTGCACCTCAGACTCACGAGTAGCTGGGAATACAAGTGTGTGACACCACAACTGGCTAGTTTTTTTTAATTTTTGTAGAGACAGGGTCCTACCATGTTGCCCAGGTTCATCTCAAACTCCTGGGCTTAAGCAATTACAGGCATGAGCCACCATGCCCAGCCCAAAACTTTTTTTTTTTTTTTGCGGGGGAAGACAGGGTCTCACTCTGTCCCCAGACTTGAGTGCACTGGCACAATCTTGGCTCACTGCAACC... |
Task1_train_9382 | This gene mutation involves ALDH7A1 (aldehyde dehydrogenase 7 family member A1) on Chromosome 5. Is it associated with any clinical condition, or is it benign? | Pathogenic; Pyridoxine-dependent epilepsy | AAAAAGGGAGGCATGGTGAGAGCAATGAACAGGAAATTAAAAACAAACAAAAATAAATAAAAAATCTAAACCAAAGCTCAAAGGCTTTCAATACTGAAAAACTGATTTTAGACTACAGCAGTTTTTTTAAGTCCACTCACCACATAAATCAGACTTATATAAATTTTCAAAATAGACAAAGTTGTACCCAAGCCAGCGAAAGATTCTGCCCAGATCTTTGGTAAAGATGCTACTTGAAAGTCCCTGTTTTACTTCATTATTCCATGCAAAGACCTCTTCTTCATTCTAAAAGGAGAGACATTGGAAGCTGTAAGATGTTA... | AAAAAGGGAGGCATGGTGAGAGCAATGAACAGGAAATTAAAAACAAACAAAAATAAATAAAAAATCTAAACCAAAGCTCAAAGGCTTTCAATACTGAAAAACTGATTTTAGACTACAGCAGTTTTTTTAAGTCCACTCACCACATAAATCAGACTTATATAAATTTTCAAAATAGACAAAGTTGTACCCAAGCCAGCGAAAGATTCTGCCCAGATCTTTGGTAAAGATGCTACTTGAAAGTCCCTGTTTTACTTCATTATTCCATGCAAAGACCTCTTCTTCATTCTAAAAGGAGAGACATTGGAAGCTGTAAGATGTTA... |
Task1_train_9383 | Here is a variant affecting ALDH7A1 (aldehyde dehydrogenase 7 family member A1) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Pyridoxine-dependent epilepsy | CTAAACCAAAGCTCAAAGGCTTTCAATACTGAAAAACTGATTTTAGACTACAGCAGTTTTTTTAAGTCCACTCACCACATAAATCAGACTTATATAAATTTTCAAAATAGACAAAGTTGTACCCAAGCCAGCGAAAGATTCTGCCCAGATCTTTGGTAAAGATGCTACTTGAAAGTCCCTGTTTTACTTCATTATTCCATGCAAAGACCTCTTCTTCATTCTAAAAGGAGAGACATTGGAAGCTGTAAGATGTTATAGTGTTCAAGTCAAAGTTCACTGACATTAAACTCATTTCCTGAAGTGTACCAGTATAATTTCAG... | CTAAACCAAAGCTCAAAGGCTTTCAATACTGAAAAACTGATTTTAGACTACAGCAGTTTTTTTAAGTCCACTCACCACATAAATCAGACTTATATAAATTTTCAAAATAGACAAAGTTGTACCCAAGCCAGCGAAAGATTCTGCCCAGATCTTTGGTAAAGATGCTACTTGAAAGTCCCTGTTTTACTTCATTATTCCATGCAAAGACCTCTTCTTCATTCTAAAAGGAGAGACATTGGAAGCTGTAAGATGTTATAGTGTTCAAGTCAAAGTTCACTGACATTAAACTCATTTCCTGAAGTGTACCAGTATAATTTCAG... |
Task1_train_9384 | A sequence alteration has been identified in ALDH7A1 (aldehyde dehydrogenase 7 family member A1) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Pyridoxine-dependent epilepsy | TCATTTATAGGTGAATTATTTCTCCAAAATAACTTCCAATCATGAAAGAAAATTCTCTCTTCCTGATATTGGTTCTAACTTAGTTGGTCAGAGAAAAATGGAAATAAGGAGTCAGGCAGGGATAGAGAGCCATGCCATGTGACACAACCAAGTTATGTTGAACAAACACTGCTGCAAGCGGTTATTTTCACTCAGCCTGTAGTGCAATGGCTTGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCCATCCTCCCACCTCAGCCTCCCAAGTAACTGGGACTACAGGCATGCACCACCATGCCCAGCTAAATT... | TCATTTATAGGTGAATTATTTCTCCAAAATAACTTCCAATCATGAAAGAAAATTCTCTCTTCCTGATATTGGTTCTAACTTAGTTGGTCAGAGAAAAATGGAAATAAGGAGTCAGGCAGGGATAGAGAGCCATGCCATGTGACACAACCAAGTTATGTTGAACAAACACTGCTGCAAGCGGTTATTTTCACTCAGCCTGTAGTGCAATGGCTTGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCCATCCTCCCACCTCAGCCTCCCAAGTAACTGGGACTACAGGCATGCACCACCATGCCCAGCTAAATT... |
Task1_train_9385 | Given this context: Chromosome 5, gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Pyridoxine-dependent epilepsy | TTTATAGGTGAATTATTTCTCCAAAATAACTTCCAATCATGAAAGAAAATTCTCTCTTCCTGATATTGGTTCTAACTTAGTTGGTCAGAGAAAAATGGAAATAAGGAGTCAGGCAGGGATAGAGAGCCATGCCATGTGACACAACCAAGTTATGTTGAACAAACACTGCTGCAAGCGGTTATTTTCACTCAGCCTGTAGTGCAATGGCTTGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCCATCCTCCCACCTCAGCCTCCCAAGTAACTGGGACTACAGGCATGCACCACCATGCCCAGCTAAATTTTT... | TTTATAGGTGAATTATTTCTCCAAAATAACTTCCAATCATGAAAGAAAATTCTCTCTTCCTGATATTGGTTCTAACTTAGTTGGTCAGAGAAAAATGGAAATAAGGAGTCAGGCAGGGATAGAGAGCCATGCCATGTGACACAACCAAGTTATGTTGAACAAACACTGCTGCAAGCGGTTATTTTCACTCAGCCTGTAGTGCAATGGCTTGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCCATCCTCCCACCTCAGCCTCCCAAGTAACTGGGACTACAGGCATGCACCACCATGCCCAGCTAAATTTTT... |
Task1_train_9386 | This variant affects gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; Pyridoxine-dependent epilepsy | TGGTCAGAGAAAAATGGAAATAAGGAGTCAGGCAGGGATAGAGAGCCATGCCATGTGACACAACCAAGTTATGTTGAACAAACACTGCTGCAAGCGGTTATTTTCACTCAGCCTGTAGTGCAATGGCTTGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCCATCCTCCCACCTCAGCCTCCCAAGTAACTGGGACTACAGGCATGCACCACCATGCCCAGCTAAATTTTTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCACCTGCC... | TGGTCAGAGAAAAATGGAAATAAGGAGTCAGGCAGGGATAGAGAGCCATGCCATGTGACACAACCAAGTTATGTTGAACAAACACTGCTGCAAGCGGTTATTTTCACTCAGCCTGTAGTGCAATGGCTTGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCCATCCTCCCACCTCAGCCTCCCAAGTAACTGGGACTACAGGCATGCACCACCATGCCCAGCTAAATTTTTTTTGTATTTTTAGTAGAGACCAGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCACCTGCC... |
Task1_train_9387 | Gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Pyridoxine-dependent epilepsy | CTGGCTAACATGGGAAACCCCATCTCTACCAAAAAATATAAAAATTAGCTGGGTGTGGTGACATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCCGTGAGCCAAGATTGCGCCACTGCACTCCATCCTGGGCACAGAGTAAGACTCTGTCTCAAAAACAGACAAACAAACAAAAACATGTGTTTCCTTGTTTTATAATAATATATATAAATAAAGACAGGAGAAGAAGGATGTCAAATGGGGTGGCTTTTCCAATATGCCCAGAGCCCTGCTTGTGTCTC... | CTGGCTAACATGGGAAACCCCATCTCTACCAAAAAATATAAAAATTAGCTGGGTGTGGTGACATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCCGTGAGCCAAGATTGCGCCACTGCACTCCATCCTGGGCACAGAGTAAGACTCTGTCTCAAAAACAGACAAACAAACAAAAACATGTGTTTCCTTGTTTTATAATAATATATATAAATAAAGACAGGAGAAGAAGGATGTCAAATGGGGTGGCTTTTCCAATATGCCCAGAGCCCTGCTTGTGTCTC... |
Task1_train_9388 | The gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Pyridoxine-dependent epilepsy | CTGGCTAACATGGGAAACCCCATCTCTACCAAAAAATATAAAAATTAGCTGGGTGTGGTGACATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCCGTGAGCCAAGATTGCGCCACTGCACTCCATCCTGGGCACAGAGTAAGACTCTGTCTCAAAAACAGACAAACAAACAAAAACATGTGTTTCCTTGTTTTATAATAATATATATAAATAAAGACAGGAGAAGAAGGATGTCAAATGGGGTGGCTTTTCCAATATGCCCAGAGCCCTGCTTGTGTCTC... | CTGGCTAACATGGGAAACCCCATCTCTACCAAAAAATATAAAAATTAGCTGGGTGTGGTGACATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCCGTGAGCCAAGATTGCGCCACTGCACTCCATCCTGGGCACAGAGTAAGACTCTGTCTCAAAAACAGACAAACAAACAAAAACATGTGTTTCCTTGTTTTATAATAATATATATAAATAAAGACAGGAGAAGAAGGATGTCAAATGGGGTGGCTTTTCCAATATGCCCAGAGCCCTGCTTGTGTCTC... |
Task1_train_9389 | This mutation is located in gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Pyridoxine-dependent epilepsy | CAGATTATTTGAGAATGTCAGCTGTGTAAAAATAAAGATTTATTTTCATTTATGCAAAACACCTGAAAAAACAAATATGAAAAGTGTGAGAGGCCGGGTGCGGTGGCTCACACCTGTAATTTCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAATCCCATCTCTAATAAAAATACAAAAATTAGCCAGGCACGGTGATGGGTGCCTGTAGTGCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGAGGTGGAGGTTACGGTGAGC... | CAGATTATTTGAGAATGTCAGCTGTGTAAAAATAAAGATTTATTTTCATTTATGCAAAACACCTGAAAAAACAAATATGAAAAGTGTGAGAGGCCGGGTGCGGTGGCTCACACCTGTAATTTCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAATCCCATCTCTAATAAAAATACAAAAATTAGCCAGGCACGGTGATGGGTGCCTGTAGTGCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGAGGTGGAGGTTACGGTGAGC... |
Task1_train_9390 | Chromosome 5 houses a mutation in gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Pyridoxine-dependent epilepsy | GAATGTCAGCTGTGTAAAAATAAAGATTTATTTTCATTTATGCAAAACACCTGAAAAAACAAATATGAAAAGTGTGAGAGGCCGGGTGCGGTGGCTCACACCTGTAATTTCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAATCCCATCTCTAATAAAAATACAAAAATTAGCCAGGCACGGTGATGGGTGCCTGTAGTGCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGAGGTGGAGGTTACGGTGAGCTGAGATCACACC... | GAATGTCAGCTGTGTAAAAATAAAGATTTATTTTCATTTATGCAAAACACCTGAAAAAACAAATATGAAAAGTGTGAGAGGCCGGGTGCGGTGGCTCACACCTGTAATTTCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAATCCCATCTCTAATAAAAATACAAAAATTAGCCAGGCACGGTGATGGGTGCCTGTAGTGCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGAGGTGGAGGTTACGGTGAGCTGAGATCACACC... |
Task1_train_9391 | A genetic alteration is present in ALDH7A1 (aldehyde dehydrogenase 7 family member A1) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Pyridoxine-dependent epilepsy | GGAAAAAGGCAAAGTCCCTGAATGATTAACAACATCTGCCATGAGCACAGAAAGAGAACTGGACCACATATTTGCCAGCCACATCTAGAGAGCATGTTGTTCTAGCAGTATTGCTGACACCTCTCTAACAGCAGAACTCATTAAAAAGTAGTGTTTTAAGAGCAAGACAATCGGGCCTATGCAGATATACTCACCAGTCGCCTCGCAGTGGTACACCTCTGGCCAGCTGTTCCCACAGCAGCGAAGAGAGCTGATGGAACAACTAAGCTGAGGTCTGCATCTTCAAAGGCTTAGGAAAGCACAAACACTTCCATCAGCGA... | GGAAAAAGGCAAAGTCCCTGAATGATTAACAACATCTGCCATGAGCACAGAAAGAGAACTGGACCACATATTTGCCAGCCACATCTAGAGAGCATGTTGTTCTAGCAGTATTGCTGACACCTCTCTAACAGCAGAACTCATTAAAAAGTAGTGTTTTAAGAGCAAGACAATCGGGCCTATGCAGATATACTCACCAGTCGCCTCGCAGTGGTACACCTCTGGCCAGCTGTTCCCACAGCAGCGAAGAGAGCTGATGGAACAACTAAGCTGAGGTCTGCATCTTCAAAGGCTTAGGAAAGCACAAACACTTCCATCAGCGA... |
Task1_train_9392 | A sequence alteration has been identified in ALDH7A1 (aldehyde dehydrogenase 7 family member A1) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Pyridoxine-dependent epilepsy | ATCTATTCTCAAAACCACTAACTTGTTGAATAGTGAGAAAATATAGATCCTAAATTGCAAAATTTTCCTTTCCACTGAAGATGCTTTTATTTTCCAAGTGACAAAATAATGTCTGCAAGAGTTCAATCAATATGTCAATATCTGGCATGTTTCCAAAGAGTTAAATTAAATGACATGGCACTGAAAGCACTCTGTATATAAAAATAATATTACAAGCAAAGGAGAAAGAGGTTATCCAAATTCCATGCTATGTGACTCTGACATCAGATTAAAAAGTCAGGGCCTATCAATAACCCTTTCAATATTATTCCATACCCAGG... | ATCTATTCTCAAAACCACTAACTTGTTGAATAGTGAGAAAATATAGATCCTAAATTGCAAAATTTTCCTTTCCACTGAAGATGCTTTTATTTTCCAAGTGACAAAATAATGTCTGCAAGAGTTCAATCAATATGTCAATATCTGGCATGTTTCCAAAGAGTTAAATTAAATGACATGGCACTGAAAGCACTCTGTATATAAAAATAATATTACAAGCAAAGGAGAAAGAGGTTATCCAAATTCCATGCTATGTGACTCTGACATCAGATTAAAAAGTCAGGGCCTATCAATAACCCTTTCAATATTATTCCATACCCAGG... |
Task1_train_9393 | Assess the clinical impact of this variant on gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1), found on Chromosome 5. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Pyridoxine-dependent epilepsy | CAAAACCACTAACTTGTTGAATAGTGAGAAAATATAGATCCTAAATTGCAAAATTTTCCTTTCCACTGAAGATGCTTTTATTTTCCAAGTGACAAAATAATGTCTGCAAGAGTTCAATCAATATGTCAATATCTGGCATGTTTCCAAAGAGTTAAATTAAATGACATGGCACTGAAAGCACTCTGTATATAAAAATAATATTACAAGCAAAGGAGAAAGAGGTTATCCAAATTCCATGCTATGTGACTCTGACATCAGATTAAAAAGTCAGGGCCTATCAATAACCCTTTCAATATTATTCCATACCCAGGAAAAAGAAA... | CAAAACCACTAACTTGTTGAATAGTGAGAAAATATAGATCCTAAATTGCAAAATTTTCCTTTCCACTGAAGATGCTTTTATTTTCCAAGTGACAAAATAATGTCTGCAAGAGTTCAATCAATATGTCAATATCTGGCATGTTTCCAAAGAGTTAAATTAAATGACATGGCACTGAAAGCACTCTGTATATAAAAATAATATTACAAGCAAAGGAGAAAGAGGTTATCCAAATTCCATGCTATGTGACTCTGACATCAGATTAAAAAGTCAGGGCCTATCAATAACCCTTTCAATATTATTCCATACCCAGGAAAAAGAAA... |
Task1_train_9394 | Given this context: Chromosome 5, gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Pyridoxine-dependent epilepsy | ACTAACTTGTTGAATAGTGAGAAAATATAGATCCTAAATTGCAAAATTTTCCTTTCCACTGAAGATGCTTTTATTTTCCAAGTGACAAAATAATGTCTGCAAGAGTTCAATCAATATGTCAATATCTGGCATGTTTCCAAAGAGTTAAATTAAATGACATGGCACTGAAAGCACTCTGTATATAAAAATAATATTACAAGCAAAGGAGAAAGAGGTTATCCAAATTCCATGCTATGTGACTCTGACATCAGATTAAAAAGTCAGGGCCTATCAATAACCCTTTCAATATTATTCCATACCCAGGAAAAAGAAAGCCACAT... | ACTAACTTGTTGAATAGTGAGAAAATATAGATCCTAAATTGCAAAATTTTCCTTTCCACTGAAGATGCTTTTATTTTCCAAGTGACAAAATAATGTCTGCAAGAGTTCAATCAATATGTCAATATCTGGCATGTTTCCAAAGAGTTAAATTAAATGACATGGCACTGAAAGCACTCTGTATATAAAAATAATATTACAAGCAAAGGAGAAAGAGGTTATCCAAATTCCATGCTATGTGACTCTGACATCAGATTAAAAAGTCAGGGCCTATCAATAACCCTTTCAATATTATTCCATACCCAGGAAAAAGAAAGCCACAT... |
Task1_train_9395 | Chromosome 5 houses a mutation in gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Pyridoxine-dependent epilepsy | CTTGTTGAATAGTGAGAAAATATAGATCCTAAATTGCAAAATTTTCCTTTCCACTGAAGATGCTTTTATTTTCCAAGTGACAAAATAATGTCTGCAAGAGTTCAATCAATATGTCAATATCTGGCATGTTTCCAAAGAGTTAAATTAAATGACATGGCACTGAAAGCACTCTGTATATAAAAATAATATTACAAGCAAAGGAGAAAGAGGTTATCCAAATTCCATGCTATGTGACTCTGACATCAGATTAAAAAGTCAGGGCCTATCAATAACCCTTTCAATATTATTCCATACCCAGGAAAAAGAAAGCCACATGTACT... | CTTGTTGAATAGTGAGAAAATATAGATCCTAAATTGCAAAATTTTCCTTTCCACTGAAGATGCTTTTATTTTCCAAGTGACAAAATAATGTCTGCAAGAGTTCAATCAATATGTCAATATCTGGCATGTTTCCAAAGAGTTAAATTAAATGACATGGCACTGAAAGCACTCTGTATATAAAAATAATATTACAAGCAAAGGAGAAAGAGGTTATCCAAATTCCATGCTATGTGACTCTGACATCAGATTAAAAAGTCAGGGCCTATCAATAACCCTTTCAATATTATTCCATACCCAGGAAAAAGAAAGCCACATGTACT... |
Task1_train_9396 | A genomic change on Chromosome 5 affects ALDH7A1 (aldehyde dehydrogenase 7 family member A1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Pyridoxine-dependent epilepsy | TGAAGATGCTTTTATTTTCCAAGTGACAAAATAATGTCTGCAAGAGTTCAATCAATATGTCAATATCTGGCATGTTTCCAAAGAGTTAAATTAAATGACATGGCACTGAAAGCACTCTGTATATAAAAATAATATTACAAGCAAAGGAGAAAGAGGTTATCCAAATTCCATGCTATGTGACTCTGACATCAGATTAAAAAGTCAGGGCCTATCAATAACCCTTTCAATATTATTCCATACCCAGGAAAAAGAAAGCCACATGTACTTACTTTGTGACAGCCACACTAATGAGGGAAGTGGTTGGAGCTCCTTTCCTTAAG... | TGAAGATGCTTTTATTTTCCAAGTGACAAAATAATGTCTGCAAGAGTTCAATCAATATGTCAATATCTGGCATGTTTCCAAAGAGTTAAATTAAATGACATGGCACTGAAAGCACTCTGTATATAAAAATAATATTACAAGCAAAGGAGAAAGAGGTTATCCAAATTCCATGCTATGTGACTCTGACATCAGATTAAAAAGTCAGGGCCTATCAATAACCCTTTCAATATTATTCCATACCCAGGAAAAAGAAAGCCACATGTACTTACTTTGTGACAGCCACACTAATGAGGGAAGTGGTTGGAGCTCCTTTCCTTAAG... |
Task1_train_9397 | Mutation context: Chromosome 5, Gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Pyridoxine-dependent epilepsy | TACACTCTTAACCTCATTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGCAGTGCAATGGCACGATCTCGGCTCACCGCCACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTCACTAATTTTGTATTTTTAGTGGAAATGGGGTTTCTCCATGTTGGCCAGGATGGTCTCTAACTCCCGACCTCAGGTGATCTGCCCACCTTGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCATCTTGTCCAGCTTTTTTTT... | TACACTCTTAACCTCATTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGCAGTGCAATGGCACGATCTCGGCTCACCGCCACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTCACTAATTTTGTATTTTTAGTGGAAATGGGGTTTCTCCATGTTGGCCAGGATGGTCTCTAACTCCCGACCTCAGGTGATCTGCCCACCTTGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCATCTTGTCCAGCTTTTTTTT... |
Task1_train_9398 | A mutation in ALDH7A1 (aldehyde dehydrogenase 7 family member A1), located on Chromosome 5, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Pyridoxine-dependent epilepsy | TCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAATGTATAGTTTGCTACATATTTGGCTGTACGTGCTCTAAAAAGATACACAAGGGCCTAGGAAGGTGGCTCATGCCTATAATCCCAGCTACTCGGGAGGCTGAAGGGGAGGATCACTTGAGGAGAGAAGTTTGAGACCAGCCTGAACAACACAGCAAGATCCTACAAAATATAAAAAAGACACACAAGAAATTGAAAGCATTCACTACTTCCATGGGGTACTATGGCTTAGTCATGGGGGTAGGAGGGAAACTTTTAATCCTTCAACCTTTTATTG... | TCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAATGTATAGTTTGCTACATATTTGGCTGTACGTGCTCTAAAAAGATACACAAGGGCCTAGGAAGGTGGCTCATGCCTATAATCCCAGCTACTCGGGAGGCTGAAGGGGAGGATCACTTGAGGAGAGAAGTTTGAGACCAGCCTGAACAACACAGCAAGATCCTACAAAATATAAAAAAGACACACAAGAAATTGAAAGCATTCACTACTTCCATGGGGTACTATGGCTTAGTCATGGGGGTAGGAGGGAAACTTTTAATCCTTCAACCTTTTATTG... |
Task1_train_9399 | A sequence alteration has been identified in LMNB1 (lamin B1) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Microcephaly 26, primary, autosomal dominant | CATTAATTACAGAAGCGTTCCTAATAGGTGGTAAGGTGGTCATCTAGGGTATAGCTAAGGGCCAGACTCGAGTCAATTAGAATCCTGGGACCTGTCAAACGCAGTCCTGCGGAGCAGCCTTCAGACAGTGAATCTATAAAATGGATGGTTTCTTTCTTTCTTTTTTGAGACGGGGTCTCCCTGTCACCCAGGCTGGAGTGTAATGGTGCCATCTCGGCTCACTGCAACTTCCCCTTTCCGGGTTCAAGGGATTCTCCCACCTCAGCCTTCCAAGTAGCTGAGATTACAGGCACCCGCCATCATGCCCGGCTAATTTTTGT... | CATTAATTACAGAAGCGTTCCTAATAGGTGGTAAGGTGGTCATCTAGGGTATAGCTAAGGGCCAGACTCGAGTCAATTAGAATCCTGGGACCTGTCAAACGCAGTCCTGCGGAGCAGCCTTCAGACAGTGAATCTATAAAATGGATGGTTTCTTTCTTTCTTTTTTGAGACGGGGTCTCCCTGTCACCCAGGCTGGAGTGTAATGGTGCCATCTCGGCTCACTGCAACTTCCCCTTTCCGGGTTCAAGGGATTCTCCCACCTCAGCCTTCCAAGTAGCTGAGATTACAGGCACCCGCCATCATGCCCGGCTAATTTTTGT... |
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