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_7600 | Given a variant located on Chromosome 3 and affecting RHO (rhodopsin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Blindness | GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGG... | GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGG... |
Task1_train_7601 | Here’s a variant in RHO (rhodopsin) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cataract | GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGG... | GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGG... |
Task1_train_7602 | An alteration has been detected in RHO (rhodopsin) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Retinal detachment | GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGG... | GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGG... |
Task1_train_7603 | Gene RHO (rhodopsin), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Monocular strabismus | GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGG... | GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGG... |
Task1_train_7604 | A variant found in Chromosome 3 affects RHO (rhodopsin). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Optic disc drusen | GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGG... | GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGG... |
Task1_train_7605 | A sequence alteration has been identified in RHO (rhodopsin) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Abnormality of retinal pigmentation | GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGG... | GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGG... |
Task1_train_7606 | A variant has been detected on Chromosome 3 in RHO (rhodopsin). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Pigmentary retinal dystrophy | GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGG... | GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGG... |
Task1_train_7607 | A genomic change on Chromosome 3 affects RHO (rhodopsin). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | TTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTC... | TTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTC... |
Task1_train_7608 | A mutation found in RHO (rhodopsin) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | TTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTC... | TTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTC... |
Task1_train_7609 | Assess the clinical impact of this variant on gene RHO (rhodopsin), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | CCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGG... | CCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGG... |
Task1_train_7610 | A change on Chromosome 3 affects gene RHO (rhodopsin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | CCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGG... | CCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGG... |
Task1_train_7611 | This genomic variant is located on Chromosome 3, within the RHO (rhodopsin) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Retinal dystrophy | CCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGG... | CCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGG... |
Task1_train_7612 | Chromosome 3 houses a mutation in gene RHO (rhodopsin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | CCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGC... | CCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGC... |
Task1_train_7613 | This sequence change occurs on Chromosome 3, altering RHO (rhodopsin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | CCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGC... | CCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGC... |
Task1_train_7614 | A variant was discovered in gene LOC112872301, PLXND1 (H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:129277154-129278043| plexin D1), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Congenital heart defects, multiple types, 9 | TGAACGTCTACCACGAGTGACATCCGTCCATTAGGGGCAAGCACCCTGAGATGTGTGTCCTTGAGTAGGAAGCTCACCTACCCCGAGGGCAGGTGCCTCACCCTGGGGCACTCACCTGCGGCCGATACCTCTTGGCGTACTTATAAATCTCTGCCATGGCCACATTGGTGTTGAACTCATTCTGGTATTTCTATAAGGAGGCAGGATGGGGAGGAGGTTAGCCCAGCGGTCAAAGCTGAGCCTAGTCCCAGCAAAGCCAGCTGCTTGCACACAATCCCCAACTCCCCACGGCCCCCACAGAACAGTTCAGCGATGAGGCC... | TGAACGTCTACCACGAGTGACATCCGTCCATTAGGGGCAAGCACCCTGAGATGTGTGTCCTTGAGTAGGAAGCTCACCTACCCCGAGGGCAGGTGCCTCACCCTGGGGCACTCACCTGCGGCCGATACCTCTTGGCGTACTTATAAATCTCTGCCATGGCCACATTGGTGTTGAACTCATTCTGGTATTTCTATAAGGAGGCAGGATGGGGAGGAGGTTAGCCCAGCGGTCAAAGCTGAGCCTAGTCCCAGCAAAGCCAGCTGCTTGCACACAATCCCCAACTCCCCACGGCCCCCACAGAACAGTTCAGCGATGAGGCC... |
Task1_train_7615 | Gene PLXND1 (plexin D1), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Congenital heart defects, multiple types, 9 | ATCGTGCCCCGTGAGCCAAGGTCTTGGGCATCCCGGCCCAGGAAGGGCTGGAATATGGGGGTGTCAAGAGCCCCAGAGCCCCAGGACCCAGGACCTGATGCTGTGTGGCCTTGGACAGGCTCCTCTTCCCTACCCCACCCCAGTCTGTCACAGCCTGACCTGTCGCGCACCGCAAAGTCCTTCTGCTGCTCCAGCGCGTGGACAAAGACGATGAGGAAGTGCTTGTTGTTGAGTAGTGAGGAGAACAAGCTAATTCCCTCTTCCATGTTGGGCCGGCAGCTCTCAGGAATCTGTGGAAGCAACTGGTGATGGGGTGTCCA... | ATCGTGCCCCGTGAGCCAAGGTCTTGGGCATCCCGGCCCAGGAAGGGCTGGAATATGGGGGTGTCAAGAGCCCCAGAGCCCCAGGACCCAGGACCTGATGCTGTGTGGCCTTGGACAGGCTCCTCTTCCCTACCCCACCCCAGTCTGTCACAGCCTGACCTGTCGCGCACCGCAAAGTCCTTCTGCTGCTCCAGCGCGTGGACAAAGACGATGAGGAAGTGCTTGTTGTTGAGTAGTGAGGAGAACAAGCTAATTCCCTCTTCCATGTTGGGCCGGCAGCTCTCAGGAATCTGTGGAAGCAACTGGTGATGGGGTGTCCA... |
Task1_train_7616 | This sequence variant lies in PLXND1 (plexin D1) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Congenital heart defects, multiple types, 9 | GGGGGAAGGGCGGGGTGCCAGTCTCACCTGACAGGGCTGCGGCGGGGACTGATGGCCGTGATGACCGGGTTCTGCATGTACCAGAAGGTGAGGTTGCCGTGCACGCAGCCCCGACGCTCGAAGCGCACACACACAGGCACCGGAGCCGGCAGGGCCCCCTCAGGCATGGTGCAGGCGATGCTGGTATCTGTGCGCCTGGGGGGAGCAGCAGGTTATCAGCAGGGCCTGCCTTCTGCTGCTCACCCACCGCCAATGCCCCTGAGACCTGGGGCACAAGTCCACGCACTTGGCCTGGGGTTCAAGGCCTCCTTGACTGGTCC... | GGGGGAAGGGCGGGGTGCCAGTCTCACCTGACAGGGCTGCGGCGGGGACTGATGGCCGTGATGACCGGGTTCTGCATGTACCAGAAGGTGAGGTTGCCGTGCACGCAGCCCCGACGCTCGAAGCGCACACACACAGGCACCGGAGCCGGCAGGGCCCCCTCAGGCATGGTGCAGGCGATGCTGGTATCTGTGCGCCTGGGGGGAGCAGCAGGTTATCAGCAGGGCCTGCCTTCTGCTGCTCACCCACCGCCAATGCCCCTGAGACCTGGGGCACAAGTCCACGCACTTGGCCTGGGGTTCAAGGCCTCCTTGACTGGTCC... |
Task1_train_7617 | This variant impacts the gene PLXND1 (plexin D1) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Congenital heart defects, multiple types, 9 | GTGGGAAAGGCCCCAGTGTCATTCTGGGGCCTCATTCCTCAGGGTGAACTATGGGGATCAACAGACCCAGCTCCCAAAGCCAGTGTGAGGAGCAATCCCTTGCCATGAACTTCCTTTCAGGGAACCACACCAAGTCCCCTCCCGCACCCTTGTCATGTCAACACACATGCTGATTCCGTCAACCTGGCCCCCCTTGCTACTGCCCAACCCAGCCTCAGACACCTGGGCCCCATGCCTGCCTGTACTCCTCCTCATTCCCCACTGAGCCCCACGGCCCTCTCCTGCCCCCAAAACACCCCTGTTCACATCCCTCCATTCTC... | GTGGGAAAGGCCCCAGTGTCATTCTGGGGCCTCATTCCTCAGGGTGAACTATGGGGATCAACAGACCCAGCTCCCAAAGCCAGTGTGAGGAGCAATCCCTTGCCATGAACTTCCTTTCAGGGAACCACACCAAGTCCCCTCCCGCACCCTTGTCATGTCAACACACATGCTGATTCCGTCAACCTGGCCCCCCTTGCTACTGCCCAACCCAGCCTCAGACACCTGGGCCCCATGCCTGCCTGTACTCCTCCTCATTCCCCACTGAGCCCCACGGCCCTCTCCTGCCCCCAAAACACCCCTGTTCACATCCCTCCATTCTC... |
Task1_train_7618 | Chromosome 3 houses a mutation in gene ATP2C1 (ATPase secretory pathway Ca2+ transporting 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Familial benign pemphigus | TCTCAAACACCTTAATTTTGATGAGTGAGCAATCTGTTTTTAAGGACAAAAAAGAAACAGGTATTCTCTTCCAGTTAATCATTCTGCAGCAAGGACTCTATCATGTAGTAGTTTTCAGCAAGAATCTGGACCATCTCTTTTAGCTAAACGAATGCATGACCCTATTTCATTCATCTTTTATGATGCTTGTTTATCAGCATTGACTTCATACTGCTTTTAAGTGGAGAAATGCTGAAGGCTGGTATGAATATAAAAGTGATTAAAAGGAAATAGATTATGCAGAAGTAGAAAAATTCATTGGATTCATCATTGTAATTGGT... | TCTCAAACACCTTAATTTTGATGAGTGAGCAATCTGTTTTTAAGGACAAAAAAGAAACAGGTATTCTCTTCCAGTTAATCATTCTGCAGCAAGGACTCTATCATGTAGTAGTTTTCAGCAAGAATCTGGACCATCTCTTTTAGCTAAACGAATGCATGACCCTATTTCATTCATCTTTTATGATGCTTGTTTATCAGCATTGACTTCATACTGCTTTTAAGTGGAGAAATGCTGAAGGCTGGTATGAATATAAAAGTGATTAAAAGGAAATAGATTATGCAGAAGTAGAAAAATTCATTGGATTCATCATTGTAATTGGT... |
Task1_train_7619 | A variant on Chromosome 3 in gene ATP2C1 (ATPase secretory pathway Ca2+ transporting 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Familial benign pemphigus | TTCGAAGAGCTTCTAGAGAGCTTTAAGCAAAGGGGAGATCATATAAAAGGGCTTAGGAACTAAAGTATGGTAGTCTGCCACTTAGCCCAGCGGGATACATTCCAAGACTGCTAGTGGATGCCTGAAACCATGAATAATATTGAACCTTATATATACCGTGTTTTTTTCGATCCGGTAACATAGATGGCTACTAAGTGATTAATGGGCAGGGAGCATATACGGTGTGGATATGCTGGACAAAGGGATGATGTCCTTGGCAGGACAGAGTGGGATTTCATCACCATACTCAGAATGTTGTATAATTGGAAACTTATGAATTA... | TTCGAAGAGCTTCTAGAGAGCTTTAAGCAAAGGGGAGATCATATAAAAGGGCTTAGGAACTAAAGTATGGTAGTCTGCCACTTAGCCCAGCGGGATACATTCCAAGACTGCTAGTGGATGCCTGAAACCATGAATAATATTGAACCTTATATATACCGTGTTTTTTTCGATCCGGTAACATAGATGGCTACTAAGTGATTAATGGGCAGGGAGCATATACGGTGTGGATATGCTGGACAAAGGGATGATGTCCTTGGCAGGACAGAGTGGGATTTCATCACCATACTCAGAATGTTGTATAATTGGAAACTTATGAATTA... |
Task1_train_7620 | Assess the clinical impact of this variant on gene ATP2C1 (ATPase secretory pathway Ca2+ transporting 1), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Familial benign pemphigus | CCAAGGATGATGACAGGGAAATAAGTAGAAATAATAATATGATGGCGTTATTTACATACTCTTAGAGAACCAACGTTACAAATAAGAAATGTCTGTTCATGTTATGGAAGGAGTAAAAGAATCCAAACTATTGTTGGTATTAATGGTTTTACAACCACTTTCCAAATTAGCTTTACCTTCCAGGAGTTTTCATGTACAAAGTTGTTACAGGCTGTGTATAATTAACTAATACAGCCTTCTCTTCAGAGTGTTTAATTTTTCTGGAGATCTTGGAAATGGAAAGATGAAGATCCGTTAGAAGCCACCTTCAAAGGTGTTTG... | CCAAGGATGATGACAGGGAAATAAGTAGAAATAATAATATGATGGCGTTATTTACATACTCTTAGAGAACCAACGTTACAAATAAGAAATGTCTGTTCATGTTATGGAAGGAGTAAAAGAATCCAAACTATTGTTGGTATTAATGGTTTTACAACCACTTTCCAAATTAGCTTTACCTTCCAGGAGTTTTCATGTACAAAGTTGTTACAGGCTGTGTATAATTAACTAATACAGCCTTCTCTTCAGAGTGTTTAATTTTTCTGGAGATCTTGGAAATGGAAAGATGAAGATCCGTTAGAAGCCACCTTCAAAGGTGTTTG... |
Task1_train_7621 | Gene NPHP3-ACAD11, UBA5 (NPHP3-ACAD11 readthrough (NMD candidate)| ubiquitin like modifier activating enzyme 5), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Developmental and epileptic encephalopathy, 44 | TTTGCCAAAGCAGGACTAGATGTTCAAAGGGTAACTTGTCCAAATTCCACAGCAATTGAAATAGTTGAAATTTGAACTTTGATCTGTTTCAGTTTGTTACAACACAAGGCTTCTAGCCTAGAAATCTCAGCTATTCTTTATTCCACCTTTCCCTTCATCTTCCAATATCTATTGGGACATGGGACCTTTAAATTCTACACCCTAAAATGTTCCCTGATCCATCTCATTTATTATTATTTTCATTTTCACCAAAATCAGTAGTCAAAGAATATAAATGCTAGTGATAAAATACCACTAGCACACTATGTTGTTGCAATTTT... | TTTGCCAAAGCAGGACTAGATGTTCAAAGGGTAACTTGTCCAAATTCCACAGCAATTGAAATAGTTGAAATTTGAACTTTGATCTGTTTCAGTTTGTTACAACACAAGGCTTCTAGCCTAGAAATCTCAGCTATTCTTTATTCCACCTTTCCCTTCATCTTCCAATATCTATTGGGACATGGGACCTTTAAATTCTACACCCTAAAATGTTCCCTGATCCATCTCATTTATTATTATTTTCATTTTCACCAAAATCAGTAGTCAAAGAATATAAATGCTAGTGATAAAATACCACTAGCACACTATGTTGTTGCAATTTT... |
Task1_train_7622 | The gene NPHP3-ACAD11, UBA5 (NPHP3-ACAD11 readthrough (NMD candidate)| ubiquitin like modifier activating enzyme 5) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | ATAGCAACTTGGATAGACTATGTAAGATAAACACATCCCCCTAAATTATCATTAGTATCCTTAGATGAGAGAAGATATGGTACAAATGATACAGGAACAAGGTGCAAAGTATTTAGATGATCAGGAATTCTTGCAAATGGAGATGGTAATAGAAATGAAAATCTTAATAGAAGTGTTGGAAAATAAAGTTGAAAGAAATCATCCAGAGAATAGAGCAGAAAACTAAAATAGTAGATAACTGGAGAAAGAAGATAAAGGACAAATCCAGATGGTTCAACTTCCAAATAATAGGAGTTCCAGATAGTCCAGGAAAAACAAAC... | ATAGCAACTTGGATAGACTATGTAAGATAAACACATCCCCCTAAATTATCATTAGTATCCTTAGATGAGAGAAGATATGGTACAAATGATACAGGAACAAGGTGCAAAGTATTTAGATGATCAGGAATTCTTGCAAATGGAGATGGTAATAGAAATGAAAATCTTAATAGAAGTGTTGGAAAATAAAGTTGAAAGAAATCATCCAGAGAATAGAGCAGAAAACTAAAATAGTAGATAACTGGAGAAAGAAGATAAAGGACAAATCCAGATGGTTCAACTTCCAAATAATAGGAGTTCCAGATAGTCCAGGAAAAACAAAC... |
Task1_train_7623 | A mutation on Chromosome 3 affecting NPHP3-ACAD11, UBA5 (NPHP3-ACAD11 readthrough (NMD candidate)| ubiquitin like modifier activating enzyme 5) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Developmental and epileptic encephalopathy, 44 | GAGGTAAATGGAATAGCAATCAAGTACCATATTCAGTGAAATCTTACTTTATGTATTTGATATGAGTTAATATAAATGAATCTTAATTTTTCTCTATAAAATGCAGTTTTCACTTGTACAAAGAATTCTCTTACCTGTTGGACATGGGTTGGCAAACTTTTTATGTATAGGTTAGATAATAAATATTTTAGTCTTTGAGGGCCAGATATTCTGTTGGAACTGTTAGTTGCAGTTTGATAGCAGCTGTAGGCAAAACAAACATGAATGAGCATGTCTGTGCTCCAAGAAAATTCTATTTTTGGACTCTGAAATTTGAATTT... | GAGGTAAATGGAATAGCAATCAAGTACCATATTCAGTGAAATCTTACTTTATGTATTTGATATGAGTTAATATAAATGAATCTTAATTTTTCTCTATAAAATGCAGTTTTCACTTGTACAAAGAATTCTCTTACCTGTTGGACATGGGTTGGCAAACTTTTTATGTATAGGTTAGATAATAAATATTTTAGTCTTTGAGGGCCAGATATTCTGTTGGAACTGTTAGTTGCAGTTTGATAGCAGCTGTAGGCAAAACAAACATGAATGAGCATGTCTGTGCTCCAAGAAAATTCTATTTTTGGACTCTGAAATTTGAATTT... |
Task1_train_7624 | A mutation in NPHP3-ACAD11, UBA5 (NPHP3-ACAD11 readthrough (NMD candidate)| ubiquitin like modifier activating enzyme 5), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Developmental and epileptic encephalopathy, 44 | CAGTGGGTGCGATGATAGCTCGCTGTAGCCTTGAACTCCTGGACTCAAGTAATCCTCCCACCACAGCCTCTTGAAATGCTAGGATTACAGGCTTATAATCATTCCCTTTTTCCTTCTTAGGAACATTAATCCTGATGTTCTTTTTGAAGTACACAACTATAATATAACCACAGTGGAAAACTTTCAACATTTCATGGATAGAATAAGGTAAAATTTTAATTTATGAATATTTTGTATAATGTCCAGCTCAAGTATTAGAAAATTATTAGAAAAATCTATGGATTAATCCAATGAATGGAAGATTGATATATATTTTTCCA... | CAGTGGGTGCGATGATAGCTCGCTGTAGCCTTGAACTCCTGGACTCAAGTAATCCTCCCACCACAGCCTCTTGAAATGCTAGGATTACAGGCTTATAATCATTCCCTTTTTCCTTCTTAGGAACATTAATCCTGATGTTCTTTTTGAAGTACACAACTATAATATAACCACAGTGGAAAACTTTCAACATTTCATGGATAGAATAAGGTAAAATTTTAATTTATGAATATTTTGTATAATGTCCAGCTCAAGTATTAGAAAATTATTAGAAAAATCTATGGATTAATCCAATGAATGGAAGATTGATATATATTTTTCCA... |
Task1_train_7625 | This variant lies on Chromosome 3 and affects the gene NPHP3-ACAD11, UBA5 (NPHP3-ACAD11 readthrough (NMD candidate)| ubiquitin like modifier activating enzyme 5). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Developmental and epileptic encephalopathy, 44 | GCTCGCTGTAGCCTTGAACTCCTGGACTCAAGTAATCCTCCCACCACAGCCTCTTGAAATGCTAGGATTACAGGCTTATAATCATTCCCTTTTTCCTTCTTAGGAACATTAATCCTGATGTTCTTTTTGAAGTACACAACTATAATATAACCACAGTGGAAAACTTTCAACATTTCATGGATAGAATAAGGTAAAATTTTAATTTATGAATATTTTGTATAATGTCCAGCTCAAGTATTAGAAAATTATTAGAAAAATCTATGGATTAATCCAATGAATGGAAGATTGATATATATTTTTCCATTTTTTTAGTACAGCAA... | GCTCGCTGTAGCCTTGAACTCCTGGACTCAAGTAATCCTCCCACCACAGCCTCTTGAAATGCTAGGATTACAGGCTTATAATCATTCCCTTTTTCCTTCTTAGGAACATTAATCCTGATGTTCTTTTTGAAGTACACAACTATAATATAACCACAGTGGAAAACTTTCAACATTTCATGGATAGAATAAGGTAAAATTTTAATTTATGAATATTTTGTATAATGTCCAGCTCAAGTATTAGAAAATTATTAGAAAAATCTATGGATTAATCCAATGAATGGAAGATTGATATATATTTTTCCATTTTTTTAGTACAGCAA... |
Task1_train_7626 | This genomic variant is located on Chromosome 3, within the NPHP3-ACAD11, UBA5 (NPHP3-ACAD11 readthrough (NMD candidate)| ubiquitin like modifier activating enzyme 5) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Spinocerebellar ataxia, autosomal recessive 24 | TTGTATATATCTTTGAATACTAGATTGATCACTCTTCTTTTTGTTTTTTTGGAGACAAGGTCTCACTGTGTTGCCCAAGCTGAAGTTCAGTGGCTCAGTCATGGCTCACTGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTTCCAAGTAGTTGGAAGTACGAGTGTATGCCACAATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAAGGTTTCACCATGTTGCTCAGGCTGTTCTTGAACTCCTGAGCTCAAGTAATCTGCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC... | TTGTATATATCTTTGAATACTAGATTGATCACTCTTCTTTTTGTTTTTTTGGAGACAAGGTCTCACTGTGTTGCCCAAGCTGAAGTTCAGTGGCTCAGTCATGGCTCACTGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTTCCAAGTAGTTGGAAGTACGAGTGTATGCCACAATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAAGGTTTCACCATGTTGCTCAGGCTGTTCTTGAACTCCTGAGCTCAAGTAATCTGCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC... |
Task1_train_7627 | A variant was discovered on Chromosome 3, affecting NPHP3-ACAD11, UBA5 (NPHP3-ACAD11 readthrough (NMD candidate)| ubiquitin like modifier activating enzyme 5). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Developmental and epileptic encephalopathy, 44 | CTGTAATCCCAACAATTTGGGAGGCCAAGGCAGGCGGATTGCTTGAGCCCAGGAATTTGAGACCAGCTTGGGCAACATGGCAAAGCCCCATCTTTACAAAAAAAAAATACAAAAATTAGCCAAGCGTGGTGGTGCTTGCCTGTAGTCGCAGCTACTTGGGAGGCTGAGATGGGATTGCTTGAGCCTGGGAGGGCGAGGCTACAGTGAGCCATGATCACGCCACCTTACTCCAGCCTGGGCAACAGAGTAAAAAGTATCAGATTTGACTGGGAAGAGGGCAGGAGGGAGCTGGAGGCACATGGGATGCTGAAAATGTTCTG... | CTGTAATCCCAACAATTTGGGAGGCCAAGGCAGGCGGATTGCTTGAGCCCAGGAATTTGAGACCAGCTTGGGCAACATGGCAAAGCCCCATCTTTACAAAAAAAAAATACAAAAATTAGCCAAGCGTGGTGGTGCTTGCCTGTAGTCGCAGCTACTTGGGAGGCTGAGATGGGATTGCTTGAGCCTGGGAGGGCGAGGCTACAGTGAGCCATGATCACGCCACCTTACTCCAGCCTGGGCAACAGAGTAAAAAGTATCAGATTTGACTGGGAAGAGGGCAGGAGGGAGCTGGAGGCACATGGGATGCTGAAAATGTTCTG... |
Task1_train_7628 | This mutation occurs in NPHP3, NPHP3-ACAD11 (nephrocystin 3| NPHP3-ACAD11 readthrough (NMD candidate)) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Nephronophthisis 3 | TATTTGAGGGGAAGGCTTTCTTCACATTTGAACATAACACAAAATGTTAACTAAATTTATTTTATTCCTTTTTCCAACCCTTTAAAGAACTGAGGTAGCTTTAAATTCCGTCTTTCAAAATCTAACCTTCAAATGAATTTAGAGTTCCACTTTTTAAAGTCTAAATTGTACTTCTCAGTAATATGATATTTTAACACATAAATAAGAAAATGTTAAGTAGTTCTCTTCTAAAAAACTAGAAGATTTTAAAATCTAAAGCTCTTAAACATGTGGGGTGTATGCATTTATGATGCTCTTTTCCTCTTACGTTCAAAACACAA... | TATTTGAGGGGAAGGCTTTCTTCACATTTGAACATAACACAAAATGTTAACTAAATTTATTTTATTCCTTTTTCCAACCCTTTAAAGAACTGAGGTAGCTTTAAATTCCGTCTTTCAAAATCTAACCTTCAAATGAATTTAGAGTTCCACTTTTTAAAGTCTAAATTGTACTTCTCAGTAATATGATATTTTAACACATAAATAAGAAAATGTTAAGTAGTTCTCTTCTAAAAAACTAGAAGATTTTAAAATCTAAAGCTCTTAAACATGTGGGGTGTATGCATTTATGATGCTCTTTTCCTCTTACGTTCAAAACACAA... |
Task1_train_7629 | This mutation occurs in NPHP3, NPHP3-ACAD11 (nephrocystin 3| NPHP3-ACAD11 readthrough (NMD candidate)) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; NPHP3-related Meckel-like syndrome | TATTTGAGGGGAAGGCTTTCTTCACATTTGAACATAACACAAAATGTTAACTAAATTTATTTTATTCCTTTTTCCAACCCTTTAAAGAACTGAGGTAGCTTTAAATTCCGTCTTTCAAAATCTAACCTTCAAATGAATTTAGAGTTCCACTTTTTAAAGTCTAAATTGTACTTCTCAGTAATATGATATTTTAACACATAAATAAGAAAATGTTAAGTAGTTCTCTTCTAAAAAACTAGAAGATTTTAAAATCTAAAGCTCTTAAACATGTGGGGTGTATGCATTTATGATGCTCTTTTCCTCTTACGTTCAAAACACAA... | TATTTGAGGGGAAGGCTTTCTTCACATTTGAACATAACACAAAATGTTAACTAAATTTATTTTATTCCTTTTTCCAACCCTTTAAAGAACTGAGGTAGCTTTAAATTCCGTCTTTCAAAATCTAACCTTCAAATGAATTTAGAGTTCCACTTTTTAAAGTCTAAATTGTACTTCTCAGTAATATGATATTTTAACACATAAATAAGAAAATGTTAAGTAGTTCTCTTCTAAAAAACTAGAAGATTTTAAAATCTAAAGCTCTTAAACATGTGGGGTGTATGCATTTATGATGCTCTTTTCCTCTTACGTTCAAAACACAA... |
Task1_train_7630 | A variant was discovered in gene NPHP3, NPHP3-ACAD11 (nephrocystin 3| NPHP3-ACAD11 readthrough (NMD candidate)), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Renal-hepatic-pancreatic dysplasia 1 | TATTTGAGGGGAAGGCTTTCTTCACATTTGAACATAACACAAAATGTTAACTAAATTTATTTTATTCCTTTTTCCAACCCTTTAAAGAACTGAGGTAGCTTTAAATTCCGTCTTTCAAAATCTAACCTTCAAATGAATTTAGAGTTCCACTTTTTAAAGTCTAAATTGTACTTCTCAGTAATATGATATTTTAACACATAAATAAGAAAATGTTAAGTAGTTCTCTTCTAAAAAACTAGAAGATTTTAAAATCTAAAGCTCTTAAACATGTGGGGTGTATGCATTTATGATGCTCTTTTCCTCTTACGTTCAAAACACAA... | TATTTGAGGGGAAGGCTTTCTTCACATTTGAACATAACACAAAATGTTAACTAAATTTATTTTATTCCTTTTTCCAACCCTTTAAAGAACTGAGGTAGCTTTAAATTCCGTCTTTCAAAATCTAACCTTCAAATGAATTTAGAGTTCCACTTTTTAAAGTCTAAATTGTACTTCTCAGTAATATGATATTTTAACACATAAATAAGAAAATGTTAAGTAGTTCTCTTCTAAAAAACTAGAAGATTTTAAAATCTAAAGCTCTTAAACATGTGGGGTGTATGCATTTATGATGCTCTTTTCCTCTTACGTTCAAAACACAA... |
Task1_train_7631 | A genomic change on Chromosome 3 affects NPHP3-ACAD11, NPHP3 (NPHP3-ACAD11 readthrough (NMD candidate)| nephrocystin 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Nephronophthisis 3 | AGAGGCTTTTCTAGATTCATCTTTTGGGAAGGATGGGGTAGTCATCAGGGTAGGCGAAGGAAAAATCTGAAACAAAGGCTCCAACAGCCCTTGTTTGTGGTGTGGAGCCCATCCCCACTGCCATACCTCTTGACAGGCATGAAAGAAACAAATAATAAAATAATAAGCAACTGGAATAAGAAAAGTTTAAGTAAAATAAAGCCAAAGTAGAGACTAAAATTATTAAATTTAAGAAATTAAAATCCTCATTTCTTTAATAAGAATAAAATTTTTAAAAATGTACAATATAAAATTTTACTAAAAGGGGATAAACTGAAATC... | AGAGGCTTTTCTAGATTCATCTTTTGGGAAGGATGGGGTAGTCATCAGGGTAGGCGAAGGAAAAATCTGAAACAAAGGCTCCAACAGCCCTTGTTTGTGGTGTGGAGCCCATCCCCACTGCCATACCTCTTGACAGGCATGAAAGAAACAAATAATAAAATAATAAGCAACTGGAATAAGAAAAGTTTAAGTAAAATAAAGCCAAAGTAGAGACTAAAATTATTAAATTTAAGAAATTAAAATCCTCATTTCTTTAATAAGAATAAAATTTTTAAAAATGTACAATATAAAATTTTACTAAAAGGGGATAAACTGAAATC... |
Task1_train_7632 | The gene NPHP3, NPHP3-ACAD11, NPHP3-AS1 (nephrocystin 3| NPHP3-ACAD11 readthrough (NMD candidate)| NPHP3 antisense RNA 1), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Nephronophthisis 3 | TAAGTTTTTTCATGCCTCGATATGTGAGAAAGGAACCAGTATGTTTCACAGGGAATCAGGATTGGTGACATGAGTGACTGTGACACTTGCCAACCCTTATTGCACTCCGCCCTGTTTGGTTTGGCCTTTTCTACCCCCACCTCACAGTTGTTTCCAACGTGCGGTGTCTGTTGGGCAGTGGCTTGGATACATTGAATCAGATATTTGAAATGCACTAGTCCATTTTATACATGCAAGTGCATTAAGGTTGCCCAGTAGGAAAACTGATAAGACAACAGATAAACTGCTACACGGACTTCTTCCCAGACAACGACAATAAT... | TAAGTTTTTTCATGCCTCGATATGTGAGAAAGGAACCAGTATGTTTCACAGGGAATCAGGATTGGTGACATGAGTGACTGTGACACTTGCCAACCCTTATTGCACTCCGCCCTGTTTGGTTTGGCCTTTTCTACCCCCACCTCACAGTTGTTTCCAACGTGCGGTGTCTGTTGGGCAGTGGCTTGGATACATTGAATCAGATATTTGAAATGCACTAGTCCATTTTATACATGCAAGTGCATTAAGGTTGCCCAGTAGGAAAACTGATAAGACAACAGATAAACTGCTACACGGACTTCTTCCCAGACAACGACAATAAT... |
Task1_train_7633 | This gene mutation involves NPHP3, NPHP3-ACAD11, NPHP3-AS1 (nephrocystin 3| NPHP3-ACAD11 readthrough (NMD candidate)| NPHP3 antisense RNA 1) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; NPHP3-related Meckel-like syndrome | TAAGTTTTTTCATGCCTCGATATGTGAGAAAGGAACCAGTATGTTTCACAGGGAATCAGGATTGGTGACATGAGTGACTGTGACACTTGCCAACCCTTATTGCACTCCGCCCTGTTTGGTTTGGCCTTTTCTACCCCCACCTCACAGTTGTTTCCAACGTGCGGTGTCTGTTGGGCAGTGGCTTGGATACATTGAATCAGATATTTGAAATGCACTAGTCCATTTTATACATGCAAGTGCATTAAGGTTGCCCAGTAGGAAAACTGATAAGACAACAGATAAACTGCTACACGGACTTCTTCCCAGACAACGACAATAAT... | TAAGTTTTTTCATGCCTCGATATGTGAGAAAGGAACCAGTATGTTTCACAGGGAATCAGGATTGGTGACATGAGTGACTGTGACACTTGCCAACCCTTATTGCACTCCGCCCTGTTTGGTTTGGCCTTTTCTACCCCCACCTCACAGTTGTTTCCAACGTGCGGTGTCTGTTGGGCAGTGGCTTGGATACATTGAATCAGATATTTGAAATGCACTAGTCCATTTTATACATGCAAGTGCATTAAGGTTGCCCAGTAGGAAAACTGATAAGACAACAGATAAACTGCTACACGGACTTCTTCCCAGACAACGACAATAAT... |
Task1_train_7634 | Located on Chromosome 3, this mutation impacts NPHP3, NPHP3-ACAD11, NPHP3-AS1 (nephrocystin 3| NPHP3-ACAD11 readthrough (NMD candidate)| NPHP3 antisense RNA 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Renal-hepatic-pancreatic dysplasia 1 | TAAGTTTTTTCATGCCTCGATATGTGAGAAAGGAACCAGTATGTTTCACAGGGAATCAGGATTGGTGACATGAGTGACTGTGACACTTGCCAACCCTTATTGCACTCCGCCCTGTTTGGTTTGGCCTTTTCTACCCCCACCTCACAGTTGTTTCCAACGTGCGGTGTCTGTTGGGCAGTGGCTTGGATACATTGAATCAGATATTTGAAATGCACTAGTCCATTTTATACATGCAAGTGCATTAAGGTTGCCCAGTAGGAAAACTGATAAGACAACAGATAAACTGCTACACGGACTTCTTCCCAGACAACGACAATAAT... | TAAGTTTTTTCATGCCTCGATATGTGAGAAAGGAACCAGTATGTTTCACAGGGAATCAGGATTGGTGACATGAGTGACTGTGACACTTGCCAACCCTTATTGCACTCCGCCCTGTTTGGTTTGGCCTTTTCTACCCCCACCTCACAGTTGTTTCCAACGTGCGGTGTCTGTTGGGCAGTGGCTTGGATACATTGAATCAGATATTTGAAATGCACTAGTCCATTTTATACATGCAAGTGCATTAAGGTTGCCCAGTAGGAAAACTGATAAGACAACAGATAAACTGCTACACGGACTTCTTCCCAGACAACGACAATAAT... |
Task1_train_7635 | With a mutation on Chromosome 3 in gene BFSP2, BFSP2-AS1 (beaded filament structural protein 2| BFSP2 antisense RNA 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cataract 12 multiple types | TTCATTGTCTAACTATCACATAATTGGCCTGTTGGTAACATTTATAATCTGATTCTTTTTCTTTTGGGCTACTCAGTTATGCTAATTAAGTTCCTTTATCTGCAGATATGAAAATGAGCAGCCATTTCGAAAGGCGGCAGAAGAGGAAATTAACTCTCTGTATAAAGTCATTGATGAGGCTAATTTGACTAAAATGGACCTGGAGAGTCAAATAGAAAGTCTGAAAGAAGAACTTGGCTCTCTATCAAGAAACTATGAAGAGGTAGGAGGGGGCTGGGGTTGCTGGGTTGGCCACAAGACCAGAAGTTCACATCTGTCTG... | TTCATTGTCTAACTATCACATAATTGGCCTGTTGGTAACATTTATAATCTGATTCTTTTTCTTTTGGGCTACTCAGTTATGCTAATTAAGTTCCTTTATCTGCAGATATGAAAATGAGCAGCCATTTCGAAAGGCGGCAGAAGAGGAAATTAACTCTCTGTATAAAGTCATTGATGAGGCTAATTTGACTAAAATGGACCTGGAGAGTCAAATAGAAAGTCTGAAAGAAGAACTTGGCTCTCTATCAAGAAACTATGAAGAGGTAGGAGGGGGCTGGGGTTGCTGGGTTGGCCACAAGACCAGAAGTTCACATCTGTCTG... |
Task1_train_7636 | Consider a variant on Chromosome 3 in gene TF (transferrin). Determine its clinical classification and disease relevance. | Pathogenic; Atransferrinemia | CCAGGGGCTGGAGTGGGGGAGAAATAGGAGGTAATTGTTTAATGTGTAAAGAGTTTCAGTTTCTGGAGATGGATAGATGTGATGGCTATAAAACAACGTGAATGCATGTACTTAATGCCACTAAAATGTACACTTGAAAATGGTTAAAATTGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAAAATACAAAAATTAGCCGGGTGTGATGGCAGGCGCCTTAATCCC... | CCAGGGGCTGGAGTGGGGGAGAAATAGGAGGTAATTGTTTAATGTGTAAAGAGTTTCAGTTTCTGGAGATGGATAGATGTGATGGCTATAAAACAACGTGAATGCATGTACTTAATGCCACTAAAATGTACACTTGAAAATGGTTAAAATTGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAAAATACAAAAATTAGCCGGGTGTGATGGCAGGCGCCTTAATCCC... |
Task1_train_7637 | This variant affects gene TF (transferrin) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Transferrin variant D1 | GCTCGGCAGAGGGTTTCAGTCTAGGCGATGGTGGTTCTCTTGTCCACTTCTCTGGATTTCTTTCCTGGAGGTTTCTCTGGAGCCCTGCACCTCTCTTAAGCAGTTCTCATGTCTGGGGCATGGATCCCAGAGGGGACCTCTCTCTGAGCTGTTCCAGCCTCTGACAAAGCAGGGAGAAGGTGCTCTGAGAAAGACCCGAGATAGGCCTTGGTTAGTGGGAAGCATAGGCCTGTTTCCTCTGATGGATGGTGGCCAGACAGAGGTCAACTTGTTCCTATTAGAAATCCTTGATCTTGATGAGTTAGCATAAGGGCAAGCTG... | GCTCGGCAGAGGGTTTCAGTCTAGGCGATGGTGGTTCTCTTGTCCACTTCTCTGGATTTCTTTCCTGGAGGTTTCTCTGGAGCCCTGCACCTCTCTTAAGCAGTTCTCATGTCTGGGGCATGGATCCCAGAGGGGACCTCTCTCTGAGCTGTTCCAGCCTCTGACAAAGCAGGGAGAAGGTGCTCTGAGAAAGACCCGAGATAGGCCTTGGTTAGTGGGAAGCATAGGCCTGTTTCCTCTGATGGATGGTGGCCAGACAGAGGTCAACTTGTTCCTATTAGAAATCCTTGATCTTGATGAGTTAGCATAAGGGCAAGCTG... |
Task1_train_7638 | Given this context: Chromosome 3, gene TF (transferrin) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not specified | TTGCATTCCTTTCTACCTAAACTTCAAGGCCCAAAGCTAAACCCCTCCCCAAGGAGGCTTTCCATGACCCTCCCAGAAGGAAATGGTCTCTCTCCCCATGCCCCTCAGCCCGGCTGTGAGGGGGCTGCCTGCACAGCGGCTTTACTTCCCAAGAGCTGTGTGATTTGGGCTCAGCCAGCTTCCTCTTGCCGAGCCGTCCCATCTGTCCACTGAGAGTTTGACTGGTAACCACACAGGGCAGCCTCTGGATTAGCCACGTTTCTTGTTCTCACCGATGTCTCAACCCGTTCCGGGAGACAGGCACAGAAGCAGGTTCAGGC... | TTGCATTCCTTTCTACCTAAACTTCAAGGCCCAAAGCTAAACCCCTCCCCAAGGAGGCTTTCCATGACCCTCCCAGAAGGAAATGGTCTCTCTCCCCATGCCCCTCAGCCCGGCTGTGAGGGGGCTGCCTGCACAGCGGCTTTACTTCCCAAGAGCTGTGTGATTTGGGCTCAGCCAGCTTCCTCTTGCCGAGCCGTCCCATCTGTCCACTGAGAGTTTGACTGGTAACCACACAGGGCAGCCTCTGGATTAGCCACGTTTCTTGTTCTCACCGATGTCTCAACCCGTTCCGGGAGACAGGCACAGAAGCAGGTTCAGGC... |
Task1_train_7639 | This alteration in TF (transferrin) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Atransferrinemia | GAGGAGATGGAAAAATCACAGTCTGATTCATACCACAGCTGCCATAAAGCTTTCCCTCTCTGAGCACCTCCTACTTTGCAAGCTCTGGGCTCCTTCATCTCAAATCCCCACAGTCATCTTGAAGGTTGGGAGTTATAGTACATTCCAGAAATGGGAAATGAAAGTTCTGCACTGGGAAGTCCTCACTAAAGATGACCCCATTGCAAAGGACAGCTGGGATTTCTGGCAGTCTTCCAGGTTCCAAAACTCACACTTCTCTCACTGCCCTGTTGCTAGGATTTAAATATAGTTGGCTAGCACGCCTCTGTGGTCTCAGTGCA... | GAGGAGATGGAAAAATCACAGTCTGATTCATACCACAGCTGCCATAAAGCTTTCCCTCTCTGAGCACCTCCTACTTTGCAAGCTCTGGGCTCCTTCATCTCAAATCCCCACAGTCATCTTGAAGGTTGGGAGTTATAGTACATTCCAGAAATGGGAAATGAAAGTTCTGCACTGGGAAGTCCTCACTAAAGATGACCCCATTGCAAAGGACAGCTGGGATTTCTGGCAGTCTTCCAGGTTCCAAAACTCACACTTCTCTCACTGCCCTGTTGCTAGGATTTAAATATAGTTGGCTAGCACGCCTCTGTGGTCTCAGTGCA... |
Task1_train_7640 | Here’s a variant in TF (transferrin) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Transferrin variant Bv | AAATTGATCAACCTGGCTTAGAGCGTCACATTCTTCCTCTGTTGGAGCAAGAGGTACAGAAGGAATTGGAATTTAGTGGAATTGAAGATCTTTTTGAACAGCATCTGCAGAATGTAGTTCATTCTCACCTGGCTGGGTAGGGAAGGTTGGAAGGGGATGGTCAATAATCATTCCTGGTCACTGTGAGTCTGGCATCACCTTGTAGACCACATGGGTGTCTCTTCCTGTCCACATCACTGTAACCCCAGTGTGGGCACTTCTGCTGGCGAGAAGGCCCAGGTTCTCTACACACCACTGAGTCAGTTCCATCTCCCCAGCGG... | AAATTGATCAACCTGGCTTAGAGCGTCACATTCTTCCTCTGTTGGAGCAAGAGGTACAGAAGGAATTGGAATTTAGTGGAATTGAAGATCTTTTTGAACAGCATCTGCAGAATGTAGTTCATTCTCACCTGGCTGGGTAGGGAAGGTTGGAAGGGGATGGTCAATAATCATTCCTGGTCACTGTGAGTCTGGCATCACCTTGTAGACCACATGGGTGTCTCTTCCTGTCCACATCACTGTAACCCCAGTGTGGGCACTTCTGCTGGCGAGAAGGCCCAGGTTCTCTACACACCACTGAGTCAGTTCCATCTCCCCAGCGG... |
Task1_train_7641 | A variant has been detected on Chromosome 3 in SLCO2A1 (solute carrier organic anion transporter family member 2A1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | AGCTGCCCTATTGGATTAGACAACACCCCTCTGCAGACCTCCCAATACCTGGCTGCTCAAAGCTTCTGCTCTGGGACCCCGAACTTCCCAGCAGCTGAGTGTTAAGATTTGGCTTGGCAGGGGCTATGCCTTCCTGGCTGTCTAATATTCCGGATGCCACACTACCTGTGGGTAGCGTACCACTAGCTACAGCTCTAGGCAGTTACTGGACTGCGGAGGGCTTGTCCAGGATTTACACCAAGGCTGGCCCATCCCATTCTCAGCACCACAGTGCTGACAACAGCCTCCCAGACTTTGTTTAGGGCCCTGTGAGCAGCTGC... | AGCTGCCCTATTGGATTAGACAACACCCCTCTGCAGACCTCCCAATACCTGGCTGCTCAAAGCTTCTGCTCTGGGACCCCGAACTTCCCAGCAGCTGAGTGTTAAGATTTGGCTTGGCAGGGGCTATGCCTTCCTGGCTGTCTAATATTCCGGATGCCACACTACCTGTGGGTAGCGTACCACTAGCTACAGCTCTAGGCAGTTACTGGACTGCGGAGGGCTTGTCCAGGATTTACACCAAGGCTGGCCCATCCCATTCTCAGCACCACAGTGCTGACAACAGCCTCCCAGACTTTGTTTAGGGCCCTGTGAGCAGCTGC... |
Task1_train_7642 | This alteration occurs within gene SLCO2A1 (solute carrier organic anion transporter family member 2A1) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | CCAAAGGTGTCTTCCTGGACCCCACCCCTCACCCCCATCTGTCATGGCTACGCTTCTCCCCTACCCTCAGATTCCAGGGGATACTGGCTTCTGGGACACTCTGGTCTAGAATGCCATCTGTTTCCAGCCCCACCGTCCTCCCCCTTTCTATCTCCTCTCTGGGATTCTTGCTTCCTCCTGAGCCTAAAGGTGAGTGCTGCTCAAGGCTCTGTCCTAAACCTTTACCTGCACTTTCTTGGGTATACTACCCCAGGGAACCTTCCTACCTCTTCTGACCTTGTCAGCTCCAGCCTAAGGCCCTGCAGCTCTGAACTACCTTT... | CCAAAGGTGTCTTCCTGGACCCCACCCCTCACCCCCATCTGTCATGGCTACGCTTCTCCCCTACCCTCAGATTCCAGGGGATACTGGCTTCTGGGACACTCTGGTCTAGAATGCCATCTGTTTCCAGCCCCACCGTCCTCCCCCTTTCTATCTCCTCTCTGGGATTCTTGCTTCCTCCTGAGCCTAAAGGTGAGTGCTGCTCAAGGCTCTGTCCTAAACCTTTACCTGCACTTTCTTGGGTATACTACCCCAGGGAACCTTCCTACCTCTTCTGACCTTGTCAGCTCCAGCCTAAGGCCCTGCAGCTCTGAACTACCTTT... |
Task1_train_7643 | The gene SLCO2A1 (solute carrier organic anion transporter family member 2A1), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | GACTCTAGACCACGTGCTTTCCATCTGTTTTCCACTGGGTTCTCTAGCAAGTCTGCCCACCTCTCACCAGTCAAGAAACTGAGGATAGAAGGGGTTAAGTCCCTTGCCTCAGGTAAAGGCTAGTAAGTGCCATTTCATTGGTCAATTTCAAGCCTGTGTCTCCCTGGTATGCAAACCTGCCCTCTTAACCATTAAACTACTGCCTCCCAACTTTATGGATCCCTAACAAAGGAGGCCCCATAATCCTTAGAAGCCTAAAGAAACAACCATCAACTGTGTGAACTGCCTGGCTTCCAAAGGAGCAGCTTTCTCTTGGCAAT... | GACTCTAGACCACGTGCTTTCCATCTGTTTTCCACTGGGTTCTCTAGCAAGTCTGCCCACCTCTCACCAGTCAAGAAACTGAGGATAGAAGGGGTTAAGTCCCTTGCCTCAGGTAAAGGCTAGTAAGTGCCATTTCATTGGTCAATTTCAAGCCTGTGTCTCCCTGGTATGCAAACCTGCCCTCTTAACCATTAAACTACTGCCTCCCAACTTTATGGATCCCTAACAAAGGAGGCCCCATAATCCTTAGAAGCCTAAAGAAACAACCATCAACTGTGTGAACTGCCTGGCTTCCAAAGGAGCAGCTTTCTCTTGGCAAT... |
Task1_train_7644 | Assess the clinical impact of this variant on gene SLCO2A1 (solute carrier organic anion transporter family member 2A1), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hypertrophic osteoarthropathy, primary, autosomal dominant | ACCTCAACTCCAATACAGTGGACTAAGGGTGAGCATCTATGAACTAGGCCTCTCACAAATGTCTATCACAAAACCACAGCCACTTTCCACAGTCCTTAAAACAAGTGCAAATTCATCCTAAGTCAACACATTAACATAAAATTAGTTCCAAAGCAATGACGGTCCTGGGTGCTGAGTAAATGTAAATGCCAAACCACTCTGTAGGGCTATTTCCTTACCCAGGCCACATACAATTTCCACAGGGCAAAAAAGCCCACTGCAAATGGCTCATGGTCAAACTCAAGGAGGTAATCCACCATGAACAAGAGCAAGCAGACATA... | ACCTCAACTCCAATACAGTGGACTAAGGGTGAGCATCTATGAACTAGGCCTCTCACAAATGTCTATCACAAAACCACAGCCACTTTCCACAGTCCTTAAAACAAGTGCAAATTCATCCTAAGTCAACACATTAACATAAAATTAGTTCCAAAGCAATGACGGTCCTGGGTGCTGAGTAAATGTAAATGCCAAACCACTCTGTAGGGCTATTTCCTTACCCAGGCCACATACAATTTCCACAGGGCAAAAAAGCCCACTGCAAATGGCTCATGGTCAAACTCAAGGAGGTAATCCACCATGAACAAGAGCAAGCAGACATA... |
Task1_train_7645 | Gene SLCO2A1 (solute carrier organic anion transporter family member 2A1), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | CTCTCACAAATGTCTATCACAAAACCACAGCCACTTTCCACAGTCCTTAAAACAAGTGCAAATTCATCCTAAGTCAACACATTAACATAAAATTAGTTCCAAAGCAATGACGGTCCTGGGTGCTGAGTAAATGTAAATGCCAAACCACTCTGTAGGGCTATTTCCTTACCCAGGCCACATACAATTTCCACAGGGCAAAAAAGCCCACTGCAAATGGCTCATGGTCAAACTCAAGGAGGTAATCCACCATGAACAAGAGCAAGCAGACATAAAACAATGGGAGGATTAACATGCTTAAAACTTGAGCTACTAGAACGATC... | CTCTCACAAATGTCTATCACAAAACCACAGCCACTTTCCACAGTCCTTAAAACAAGTGCAAATTCATCCTAAGTCAACACATTAACATAAAATTAGTTCCAAAGCAATGACGGTCCTGGGTGCTGAGTAAATGTAAATGCCAAACCACTCTGTAGGGCTATTTCCTTACCCAGGCCACATACAATTTCCACAGGGCAAAAAAGCCCACTGCAAATGGCTCATGGTCAAACTCAAGGAGGTAATCCACCATGAACAAGAGCAAGCAGACATAAAACAATGGGAGGATTAACATGCTTAAAACTTGAGCTACTAGAACGATC... |
Task1_train_7646 | This mutation occurs in PCCB (propionyl-CoA carboxylase subunit beta) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | GTGTGTGTCTGTGTATGTGAATCTGAACATGCCAGGCCTTTGCTCACACTGCTTCTGTTCCCTGGCATATGGATGCTTTCTTGGAGAAACTCTCCTCAACACACTCAGCCTTACTCAAATTCTCTCTTGTGCTCCCAAGGCAATCTGCCTCTCTAGGTTGTCCATCTGCCTCTCTAGGTTGGTAAAGTCTTTAAAGCAAGGACCCAAATGCAAGGTCAAGAGTACCCATTACGGAGTTATACAGATACAGGTGGGCTTTGCCTAGCCAAGAGGCTTTGGCCTCTAAGCTGCCCTCTCTATCTAGATGAACTGTTACTACT... | GTGTGTGTCTGTGTATGTGAATCTGAACATGCCAGGCCTTTGCTCACACTGCTTCTGTTCCCTGGCATATGGATGCTTTCTTGGAGAAACTCTCCTCAACACACTCAGCCTTACTCAAATTCTCTCTTGTGCTCCCAAGGCAATCTGCCTCTCTAGGTTGTCCATCTGCCTCTCTAGGTTGGTAAAGTCTTTAAAGCAAGGACCCAAATGCAAGGTCAAGAGTACCCATTACGGAGTTATACAGATACAGGTGGGCTTTGCCTAGCCAAGAGGCTTTGGCCTCTAAGCTGCCCTCTCTATCTAGATGAACTGTTACTACT... |
Task1_train_7647 | Given this variant in gene PCCB (propionyl-CoA carboxylase subunit beta) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Propionic acidemia | GTGTGTGTCTGTGTATGTGAATCTGAACATGCCAGGCCTTTGCTCACACTGCTTCTGTTCCCTGGCATATGGATGCTTTCTTGGAGAAACTCTCCTCAACACACTCAGCCTTACTCAAATTCTCTCTTGTGCTCCCAAGGCAATCTGCCTCTCTAGGTTGTCCATCTGCCTCTCTAGGTTGGTAAAGTCTTTAAAGCAAGGACCCAAATGCAAGGTCAAGAGTACCCATTACGGAGTTATACAGATACAGGTGGGCTTTGCCTAGCCAAGAGGCTTTGGCCTCTAAGCTGCCCTCTCTATCTAGATGAACTGTTACTACT... | GTGTGTGTCTGTGTATGTGAATCTGAACATGCCAGGCCTTTGCTCACACTGCTTCTGTTCCCTGGCATATGGATGCTTTCTTGGAGAAACTCTCCTCAACACACTCAGCCTTACTCAAATTCTCTCTTGTGCTCCCAAGGCAATCTGCCTCTCTAGGTTGTCCATCTGCCTCTCTAGGTTGGTAAAGTCTTTAAAGCAAGGACCCAAATGCAAGGTCAAGAGTACCCATTACGGAGTTATACAGATACAGGTGGGCTTTGCCTAGCCAAGAGGCTTTGGCCTCTAAGCTGCCCTCTCTATCTAGATGAACTGTTACTACT... |
Task1_train_7648 | Gene PCCB (propionyl-CoA carboxylase subunit beta) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Propionic acidemia | TGTGTGTCTGTGTATGTGAATCTGAACATGCCAGGCCTTTGCTCACACTGCTTCTGTTCCCTGGCATATGGATGCTTTCTTGGAGAAACTCTCCTCAACACACTCAGCCTTACTCAAATTCTCTCTTGTGCTCCCAAGGCAATCTGCCTCTCTAGGTTGTCCATCTGCCTCTCTAGGTTGGTAAAGTCTTTAAAGCAAGGACCCAAATGCAAGGTCAAGAGTACCCATTACGGAGTTATACAGATACAGGTGGGCTTTGCCTAGCCAAGAGGCTTTGGCCTCTAAGCTGCCCTCTCTATCTAGATGAACTGTTACTACTC... | TGTGTGTCTGTGTATGTGAATCTGAACATGCCAGGCCTTTGCTCACACTGCTTCTGTTCCCTGGCATATGGATGCTTTCTTGGAGAAACTCTCCTCAACACACTCAGCCTTACTCAAATTCTCTCTTGTGCTCCCAAGGCAATCTGCCTCTCTAGGTTGTCCATCTGCCTCTCTAGGTTGGTAAAGTCTTTAAAGCAAGGACCCAAATGCAAGGTCAAGAGTACCCATTACGGAGTTATACAGATACAGGTGGGCTTTGCCTAGCCAAGAGGCTTTGGCCTCTAAGCTGCCCTCTCTATCTAGATGAACTGTTACTACTC... |
Task1_train_7649 | This sequence variant lies in PCCB (propionyl-CoA carboxylase subunit beta) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Propionic acidemia | ACATTGAAATTTTAGTTCTCTTATCACTGTGTTTAACCAGCAATCTGACAGTAATTTCCTTAAATGTCTGTCTCCCAGAAGTGTGGAGGGGTGTGGAACAAACTACCTTTTTAAATCCCTTGTGGCTGGGAAGCTGCTTGAGCCAATCAGGGTTGAAACAATGCCAGCCTCTATGCTTAGCCCCTCAGCCATCAAAAGCAGTGGTCAGTAATCAGAACATACAACCTTGATTTTTCAAGGTTGAAAAACCAAGATGCAAAGGTTCTAATTTCCCAATCTGGCACCAACTAGCTACACTAGGAACATCCTCGTGGCTACCT... | ACATTGAAATTTTAGTTCTCTTATCACTGTGTTTAACCAGCAATCTGACAGTAATTTCCTTAAATGTCTGTCTCCCAGAAGTGTGGAGGGGTGTGGAACAAACTACCTTTTTAAATCCCTTGTGGCTGGGAAGCTGCTTGAGCCAATCAGGGTTGAAACAATGCCAGCCTCTATGCTTAGCCCCTCAGCCATCAAAAGCAGTGGTCAGTAATCAGAACATACAACCTTGATTTTTCAAGGTTGAAAAACCAAGATGCAAAGGTTCTAATTTCCCAATCTGGCACCAACTAGCTACACTAGGAACATCCTCGTGGCTACCT... |
Task1_train_7650 | This is a variant in PCCB (propionyl-CoA carboxylase subunit beta), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; not specified | CCTGAGAGAAGACCCTGTTAAGAATGATGCTCTCGTGCGTTTCAGAAGGGTCTTTTTTTCCCCCATGCATGTCAGAAGCATGAGGGAGTTTTCTCTGATTATCACTGTGAGAACCTTGTTGAGTTCCTAGAGGTAAAACTCACAAAAGTGTGGGAGCCCCCAATGATTGGCCGGCCCTGGAGTCTTGATCTCTCCGACTTGTCCATGCTGGGCCTCCAGCAATTTGTCAGCTATAGTTCCGGTTTTCCTACATCAGCCCTGGCTCTGGAGGAGATTTGTGCTTGTGGGTTTCTGCCCTGCAAGGCTCAATTTTCTGCATT... | CCTGAGAGAAGACCCTGTTAAGAATGATGCTCTCGTGCGTTTCAGAAGGGTCTTTTTTTCCCCCATGCATGTCAGAAGCATGAGGGAGTTTTCTCTGATTATCACTGTGAGAACCTTGTTGAGTTCCTAGAGGTAAAACTCACAAAAGTGTGGGAGCCCCCAATGATTGGCCGGCCCTGGAGTCTTGATCTCTCCGACTTGTCCATGCTGGGCCTCCAGCAATTTGTCAGCTATAGTTCCGGTTTTCCTACATCAGCCCTGGCTCTGGAGGAGATTTGTGCTTGTGGGTTTCTGCCCTGCAAGGCTCAATTTTCTGCATT... |
Task1_train_7651 | The gene PCCB (propionyl-CoA carboxylase subunit beta), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Propionic acidemia | CCTGAGAGAAGACCCTGTTAAGAATGATGCTCTCGTGCGTTTCAGAAGGGTCTTTTTTTCCCCCATGCATGTCAGAAGCATGAGGGAGTTTTCTCTGATTATCACTGTGAGAACCTTGTTGAGTTCCTAGAGGTAAAACTCACAAAAGTGTGGGAGCCCCCAATGATTGGCCGGCCCTGGAGTCTTGATCTCTCCGACTTGTCCATGCTGGGCCTCCAGCAATTTGTCAGCTATAGTTCCGGTTTTCCTACATCAGCCCTGGCTCTGGAGGAGATTTGTGCTTGTGGGTTTCTGCCCTGCAAGGCTCAATTTTCTGCATT... | CCTGAGAGAAGACCCTGTTAAGAATGATGCTCTCGTGCGTTTCAGAAGGGTCTTTTTTTCCCCCATGCATGTCAGAAGCATGAGGGAGTTTTCTCTGATTATCACTGTGAGAACCTTGTTGAGTTCCTAGAGGTAAAACTCACAAAAGTGTGGGAGCCCCCAATGATTGGCCGGCCCTGGAGTCTTGATCTCTCCGACTTGTCCATGCTGGGCCTCCAGCAATTTGTCAGCTATAGTTCCGGTTTTCCTACATCAGCCCTGGCTCTGGAGGAGATTTGTGCTTGTGGGTTTCTGCCCTGCAAGGCTCAATTTTCTGCATT... |
Task1_train_7652 | Given a variant located on Chromosome 3 and affecting PCCB (propionyl-CoA carboxylase subunit beta), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Inborn genetic diseases | CCTGAGAGAAGACCCTGTTAAGAATGATGCTCTCGTGCGTTTCAGAAGGGTCTTTTTTTCCCCCATGCATGTCAGAAGCATGAGGGAGTTTTCTCTGATTATCACTGTGAGAACCTTGTTGAGTTCCTAGAGGTAAAACTCACAAAAGTGTGGGAGCCCCCAATGATTGGCCGGCCCTGGAGTCTTGATCTCTCCGACTTGTCCATGCTGGGCCTCCAGCAATTTGTCAGCTATAGTTCCGGTTTTCCTACATCAGCCCTGGCTCTGGAGGAGATTTGTGCTTGTGGGTTTCTGCCCTGCAAGGCTCAATTTTCTGCATT... | CCTGAGAGAAGACCCTGTTAAGAATGATGCTCTCGTGCGTTTCAGAAGGGTCTTTTTTTCCCCCATGCATGTCAGAAGCATGAGGGAGTTTTCTCTGATTATCACTGTGAGAACCTTGTTGAGTTCCTAGAGGTAAAACTCACAAAAGTGTGGGAGCCCCCAATGATTGGCCGGCCCTGGAGTCTTGATCTCTCCGACTTGTCCATGCTGGGCCTCCAGCAATTTGTCAGCTATAGTTCCGGTTTTCCTACATCAGCCCTGGCTCTGGAGGAGATTTGTGCTTGTGGGTTTCTGCCCTGCAAGGCTCAATTTTCTGCATT... |
Task1_train_7653 | Gene PCCB (propionyl-CoA carboxylase subunit beta) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Propionic acidemia | TTTTTCCCCCATGCATGTCAGAAGCATGAGGGAGTTTTCTCTGATTATCACTGTGAGAACCTTGTTGAGTTCCTAGAGGTAAAACTCACAAAAGTGTGGGAGCCCCCAATGATTGGCCGGCCCTGGAGTCTTGATCTCTCCGACTTGTCCATGCTGGGCCTCCAGCAATTTGTCAGCTATAGTTCCGGTTTTCCTACATCAGCCCTGGCTCTGGAGGAGATTTGTGCTTGTGGGTTTCTGCCCTGCAAGGCTCAATTTTCTGCATTTGCCAGTTGGTCTCCAGTTTTGGGGTGCTTTGTTCTGCAAAGACCTCACCTCTT... | TTTTTCCCCCATGCATGTCAGAAGCATGAGGGAGTTTTCTCTGATTATCACTGTGAGAACCTTGTTGAGTTCCTAGAGGTAAAACTCACAAAAGTGTGGGAGCCCCCAATGATTGGCCGGCCCTGGAGTCTTGATCTCTCCGACTTGTCCATGCTGGGCCTCCAGCAATTTGTCAGCTATAGTTCCGGTTTTCCTACATCAGCCCTGGCTCTGGAGGAGATTTGTGCTTGTGGGTTTCTGCCCTGCAAGGCTCAATTTTCTGCATTTGCCAGTTGGTCTCCAGTTTTGGGGTGCTTTGTTCTGCAAAGACCTCACCTCTT... |
Task1_train_7654 | An alteration has been detected in PCCB (propionyl-CoA carboxylase subunit beta) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Propionic acidemia | GTGAATGAGGTCTGCTCTGCTTCCTCCAGAACCAGGGAGGAAATGGGACAAGTGTAATTAAAAAGGCACAGAGCTTTCATACCATTTTCTTTTATTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGTCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCTTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCTGAGGTAGATGGGATTACAGGTGTGCACCACGCTCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGA... | GTGAATGAGGTCTGCTCTGCTTCCTCCAGAACCAGGGAGGAAATGGGACAAGTGTAATTAAAAAGGCACAGAGCTTTCATACCATTTTCTTTTATTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGTCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCTTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCTGAGGTAGATGGGATTACAGGTGTGCACCACGCTCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGA... |
Task1_train_7655 | A genetic alteration is present in PCCB (propionyl-CoA carboxylase subunit beta) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Propionic acidemia | GACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAATGATGGGATTACAGGTGTGAGCCACCACATCTGGCCATTTTTTTTTGTTCTTTTAGAGACAGAGTGTCACTATGTTGCCCAGGCAGGTCTCAAACTCCTGGGCTTAAGCAGTCCTCCACTTTGGCCTCCTGAGTAGCTGGGACTACATTGTCTTTTTATTGTTGATTTCTAGGGCCTGGCTTGTGACTTGCCTATTTATTTCCTTTCCTTTCCTTTTTTTTTTATTTGAGATGGAGTCTCACTCTGTTGCCTAGAGTGGTGGTGCAATCTTGGCTCACTGCAAC... | GACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAATGATGGGATTACAGGTGTGAGCCACCACATCTGGCCATTTTTTTTTGTTCTTTTAGAGACAGAGTGTCACTATGTTGCCCAGGCAGGTCTCAAACTCCTGGGCTTAAGCAGTCCTCCACTTTGGCCTCCTGAGTAGCTGGGACTACATTGTCTTTTTATTGTTGATTTCTAGGGCCTGGCTTGTGACTTGCCTATTTATTTCCTTTCCTTTCCTTTTTTTTTTATTTGAGATGGAGTCTCACTCTGTTGCCTAGAGTGGTGGTGCAATCTTGGCTCACTGCAAC... |
Task1_train_7656 | An alteration has been detected in PCCB (propionyl-CoA carboxylase subunit beta) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Propionic acidemia | TTTTTTTTTGTTCTTTTAGAGACAGAGTGTCACTATGTTGCCCAGGCAGGTCTCAAACTCCTGGGCTTAAGCAGTCCTCCACTTTGGCCTCCTGAGTAGCTGGGACTACATTGTCTTTTTATTGTTGATTTCTAGGGCCTGGCTTGTGACTTGCCTATTTATTTCCTTTCCTTTCCTTTTTTTTTTATTTGAGATGGAGTCTCACTCTGTTGCCTAGAGTGGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTTCCTCAAGCCTTCTGAGTAGCTGGGAGTACAGGTGCCTGCAAC... | TTTTTTTTTGTTCTTTTAGAGACAGAGTGTCACTATGTTGCCCAGGCAGGTCTCAAACTCCTGGGCTTAAGCAGTCCTCCACTTTGGCCTCCTGAGTAGCTGGGACTACATTGTCTTTTTATTGTTGATTTCTAGGGCCTGGCTTGTGACTTGCCTATTTATTTCCTTTCCTTTCCTTTTTTTTTTATTTGAGATGGAGTCTCACTCTGTTGCCTAGAGTGGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTTCCTCAAGCCTTCTGAGTAGCTGGGAGTACAGGTGCCTGCAAC... |
Task1_train_7657 | A mutation in PCCB (propionyl-CoA carboxylase subunit beta), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Propionic acidemia | TGGTCTGCCTGCCCGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCGGGCCATGTTTTTATTCATGAATGGATATTAAATTTTTTCAGGTATTTTCTCTACATCTATTGAGATGTTCATATAGTTTTTTTCCTTTATTTAATAATTTCATTAGTTTTCACATGCTGAAATCAACCTTGAATTCTTGGGATAAACCCCACTTGGACATGATGTATTACTGTTTTTTTGAGATGGAGTGTTGCTCTGTCACCCGGGCTGGAGTGCAGTGGCATGATTTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC... | TGGTCTGCCTGCCCGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCGGGCCATGTTTTTATTCATGAATGGATATTAAATTTTTTCAGGTATTTTCTCTACATCTATTGAGATGTTCATATAGTTTTTTTCCTTTATTTAATAATTTCATTAGTTTTCACATGCTGAAATCAACCTTGAATTCTTGGGATAAACCCCACTTGGACATGATGTATTACTGTTTTTTTGAGATGGAGTGTTGCTCTGTCACCCGGGCTGGAGTGCAGTGGCATGATTTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC... |
Task1_train_7658 | This mutation occurs in PCCB (propionyl-CoA carboxylase subunit beta) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Propionic acidemia | TTGGTAAGTCTCCCTCTTGGGGCTCCAGAGATAGCTCTGCCTCCTGTCCTATACCCTTTCTTCAGGCCCACGCTGGTGTCTTCATGCCAAGGTGGGTGCGGCAGGTGAAAGGAAAGTGAGAGGGGTCCAGAGTGGTTTTGAGATTGTAAGTAAAGGGGGCAAAGGGTTGAGTCAACTGAAGTCACCTTCAGAAGTATTGGACATTCTCCCAGCTCCACCTCAGCTTCCAGGGAGGGCCCCAGAGCTACTCTTTTAAGCTCATAAGAAGCTAAACTGTAGGTCCGACCCTAGTGACGTTGGACAAGGTACTTCCTATTGCT... | TTGGTAAGTCTCCCTCTTGGGGCTCCAGAGATAGCTCTGCCTCCTGTCCTATACCCTTTCTTCAGGCCCACGCTGGTGTCTTCATGCCAAGGTGGGTGCGGCAGGTGAAAGGAAAGTGAGAGGGGTCCAGAGTGGTTTTGAGATTGTAAGTAAAGGGGGCAAAGGGTTGAGTCAACTGAAGTCACCTTCAGAAGTATTGGACATTCTCCCAGCTCCACCTCAGCTTCCAGGGAGGGCCCCAGAGCTACTCTTTTAAGCTCATAAGAAGCTAAACTGTAGGTCCGACCCTAGTGACGTTGGACAAGGTACTTCCTATTGCT... |
Task1_train_7659 | Mutation context: Chromosome 3, Gene PCCB (propionyl-CoA carboxylase subunit beta). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Propionic acidemia | GGCTCCAGAGATAGCTCTGCCTCCTGTCCTATACCCTTTCTTCAGGCCCACGCTGGTGTCTTCATGCCAAGGTGGGTGCGGCAGGTGAAAGGAAAGTGAGAGGGGTCCAGAGTGGTTTTGAGATTGTAAGTAAAGGGGGCAAAGGGTTGAGTCAACTGAAGTCACCTTCAGAAGTATTGGACATTCTCCCAGCTCCACCTCAGCTTCCAGGGAGGGCCCCAGAGCTACTCTTTTAAGCTCATAAGAAGCTAAACTGTAGGTCCGACCCTAGTGACGTTGGACAAGGTACTTCCTATTGCTTGACCTATTCCTCACTCCTC... | GGCTCCAGAGATAGCTCTGCCTCCTGTCCTATACCCTTTCTTCAGGCCCACGCTGGTGTCTTCATGCCAAGGTGGGTGCGGCAGGTGAAAGGAAAGTGAGAGGGGTCCAGAGTGGTTTTGAGATTGTAAGTAAAGGGGGCAAAGGGTTGAGTCAACTGAAGTCACCTTCAGAAGTATTGGACATTCTCCCAGCTCCACCTCAGCTTCCAGGGAGGGCCCCAGAGCTACTCTTTTAAGCTCATAAGAAGCTAAACTGTAGGTCCGACCCTAGTGACGTTGGACAAGGTACTTCCTATTGCTTGACCTATTCCTCACTCCTC... |
Task1_train_7660 | This variant impacts the gene PCCB (propionyl-CoA carboxylase subunit beta) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Inborn genetic diseases | GGCTCCAGAGATAGCTCTGCCTCCTGTCCTATACCCTTTCTTCAGGCCCACGCTGGTGTCTTCATGCCAAGGTGGGTGCGGCAGGTGAAAGGAAAGTGAGAGGGGTCCAGAGTGGTTTTGAGATTGTAAGTAAAGGGGGCAAAGGGTTGAGTCAACTGAAGTCACCTTCAGAAGTATTGGACATTCTCCCAGCTCCACCTCAGCTTCCAGGGAGGGCCCCAGAGCTACTCTTTTAAGCTCATAAGAAGCTAAACTGTAGGTCCGACCCTAGTGACGTTGGACAAGGTACTTCCTATTGCTTGACCTATTCCTCACTCCTC... | GGCTCCAGAGATAGCTCTGCCTCCTGTCCTATACCCTTTCTTCAGGCCCACGCTGGTGTCTTCATGCCAAGGTGGGTGCGGCAGGTGAAAGGAAAGTGAGAGGGGTCCAGAGTGGTTTTGAGATTGTAAGTAAAGGGGGCAAAGGGTTGAGTCAACTGAAGTCACCTTCAGAAGTATTGGACATTCTCCCAGCTCCACCTCAGCTTCCAGGGAGGGCCCCAGAGCTACTCTTTTAAGCTCATAAGAAGCTAAACTGTAGGTCCGACCCTAGTGACGTTGGACAAGGTACTTCCTATTGCTTGACCTATTCCTCACTCCTC... |
Task1_train_7661 | This alteration in PCCB (propionyl-CoA carboxylase subunit beta) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Propionic acidemia | TGGGTGCGGCAGGTGAAAGGAAAGTGAGAGGGGTCCAGAGTGGTTTTGAGATTGTAAGTAAAGGGGGCAAAGGGTTGAGTCAACTGAAGTCACCTTCAGAAGTATTGGACATTCTCCCAGCTCCACCTCAGCTTCCAGGGAGGGCCCCAGAGCTACTCTTTTAAGCTCATAAGAAGCTAAACTGTAGGTCCGACCCTAGTGACGTTGGACAAGGTACTTCCTATTGCTTGACCTATTCCTCACTCCTCCCTGCTTTGAAGTAGCTATTGTGGTCGAATCAGATAACTTCCAGGTCCCCTAGAGTTGACTTATAGGTGCTC... | TGGGTGCGGCAGGTGAAAGGAAAGTGAGAGGGGTCCAGAGTGGTTTTGAGATTGTAAGTAAAGGGGGCAAAGGGTTGAGTCAACTGAAGTCACCTTCAGAAGTATTGGACATTCTCCCAGCTCCACCTCAGCTTCCAGGGAGGGCCCCAGAGCTACTCTTTTAAGCTCATAAGAAGCTAAACTGTAGGTCCGACCCTAGTGACGTTGGACAAGGTACTTCCTATTGCTTGACCTATTCCTCACTCCTCCCTGCTTTGAAGTAGCTATTGTGGTCGAATCAGATAACTTCCAGGTCCCCTAGAGTTGACTTATAGGTGCTC... |
Task1_train_7662 | The gene STAG1 (STAG1 cohesin complex component), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | CAACTCCCACAAAACCAAATGACATATATAGTCTTTTGAAGAAAAAAATGTAATAAACTTCTTAAAATAAGTTATATTTCACAATATACATGCATTTAAACCAAGTTTCTCGGGTATATACACAGTAACAAAAGGAATAATATCTTCCTCAAGTGACAGAAGATAAAATGGATAGCCTCAAATATCTAGTAAGTATTTTCACTTTAAATACCTTCATATCATAATCAAACTGTGTTACTTTACTATCAAACAAAAAAAAAAAACTAGAATGGTGATTTTAAAAAAGTCTTCTTTGATGAAGCTGATCATCTCAAATATTG... | CAACTCCCACAAAACCAAATGACATATATAGTCTTTTGAAGAAAAAAATGTAATAAACTTCTTAAAATAAGTTATATTTCACAATATACATGCATTTAAACCAAGTTTCTCGGGTATATACACAGTAACAAAAGGAATAATATCTTCCTCAAGTGACAGAAGATAAAATGGATAGCCTCAAATATCTAGTAAGTATTTTCACTTTAAATACCTTCATATCATAATCAAACTGTGTTACTTTACTATCAAACAAAAAAAAAAAACTAGAATGGTGATTTTAAAAAAGTCTTCTTTGATGAAGCTGATCATCTCAAATATTG... |
Task1_train_7663 | A mutation in DZIP1L (DAZ interacting zinc finger protein 1 like), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Polycystic kidney disease 5 | CATAGGCCGAGCTCAGACCACCTGCATAGCCGCTGGTGGTCTTTGTATGGATACTTGTGTTCTGCATCTCAGACTCCAGCCGGCTTTCCTTGCCCTCCAGCAGCTTCCTATAGGTGGCGATCTTGATGTCCAGGGCCAGCTTGACATTCATCAGCTCCTGATACTCACGCAGCTGCCGCTCCATGTCCTGCTTGGCCCGCTGCAGGGCGCCCTCCAGCTCGGACAGCTTGGCGTTGGCATCCTTAATGGCCAGCTCCCCACGTTGCTCGGCATCTGCGATGCCCTCTGGCCTTTGAGGCCCTCAATCTCAGCCTGGAGCC... | CATAGGCCGAGCTCAGACCACCTGCATAGCCGCTGGTGGTCTTTGTATGGATACTTGTGTTCTGCATCTCAGACTCCAGCCGGCTTTCCTTGCCCTCCAGCAGCTTCCTATAGGTGGCGATCTTGATGTCCAGGGCCAGCTTGACATTCATCAGCTCCTGATACTCACGCAGCTGCCGCTCCATGTCCTGCTTGGCCCGCTGCAGGGCGCCCTCCAGCTCGGACAGCTTGGCGTTGGCATCCTTAATGGCCAGCTCCCCACGTTGCTCGGCATCTGCGATGCCCTCTGGCCTTTGAGGCCCTCAATCTCAGCCTGGAGCC... |
Task1_train_7664 | A variant has been detected on Chromosome 3 in DZIP1L (DAZ interacting zinc finger protein 1 like). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Polycystic kidney disease 5 | GGCCGAGCTCAGACCACCTGCATAGCCGCTGGTGGTCTTTGTATGGATACTTGTGTTCTGCATCTCAGACTCCAGCCGGCTTTCCTTGCCCTCCAGCAGCTTCCTATAGGTGGCGATCTTGATGTCCAGGGCCAGCTTGACATTCATCAGCTCCTGATACTCACGCAGCTGCCGCTCCATGTCCTGCTTGGCCCGCTGCAGGGCGCCCTCCAGCTCGGACAGCTTGGCGTTGGCATCCTTAATGGCCAGCTCCCCACGTTGCTCGGCATCTGCGATGCCCTCTGGCCTTTGAGGCCCTCAATCTCAGCCTGGAGCCGGCT... | GGCCGAGCTCAGACCACCTGCATAGCCGCTGGTGGTCTTTGTATGGATACTTGTGTTCTGCATCTCAGACTCCAGCCGGCTTTCCTTGCCCTCCAGCAGCTTCCTATAGGTGGCGATCTTGATGTCCAGGGCCAGCTTGACATTCATCAGCTCCTGATACTCACGCAGCTGCCGCTCCATGTCCTGCTTGGCCCGCTGCAGGGCGCCCTCCAGCTCGGACAGCTTGGCGTTGGCATCCTTAATGGCCAGCTCCCCACGTTGCTCGGCATCTGCGATGCCCTCTGGCCTTTGAGGCCCTCAATCTCAGCCTGGAGCCGGCT... |
Task1_train_7665 | A sequence alteration has been identified in MRAS (muscle RAS oncogene homolog) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; RASopathy | GTTTTGCAGCCTGTCTTTTTTTCATACATAACAACACACTTTTTCTAGGTTAGTGAATATCTTCCTTTTAAATGACTGCATAGTACTCCATTATATGGATAAACTTTAACTTTTCCCCCCAACATTAAGTTATTTCTATTTTCCCCCATTCTTAACATCTTTCTTCACTTCTCTGATTATCTCCTTAGAATAAATTCTCACATGGGGTAGAGCTGCAGGAGAGGGTATGAATATATTTACGCAAGTGTATTTTCAGTATAGCCTAGGCAGATTTGCACTTTCTCTGCAGTGTAGCAAAGCTTGTACTTCTCCGACACTTT... | GTTTTGCAGCCTGTCTTTTTTTCATACATAACAACACACTTTTTCTAGGTTAGTGAATATCTTCCTTTTAAATGACTGCATAGTACTCCATTATATGGATAAACTTTAACTTTTCCCCCCAACATTAAGTTATTTCTATTTTCCCCCATTCTTAACATCTTTCTTCACTTCTCTGATTATCTCCTTAGAATAAATTCTCACATGGGGTAGAGCTGCAGGAGAGGGTATGAATATATTTACGCAAGTGTATTTTCAGTATAGCCTAGGCAGATTTGCACTTTCTCTGCAGTGTAGCAAAGCTTGTACTTCTCCGACACTTT... |
Task1_train_7666 | Gene MRAS (muscle RAS oncogene homolog) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; RASopathy | CCTCGGCCTCCCAAAGCACTGGGATTACATGCATGAGCCACCGCGCCTGGCCAGACTATGCCATTCTTTTGCCCAAACTCTCCAGTGGCCCCAGTCTTGCTTAGAACCAAGTGAAACTTACACAGTGTGGCAGGCCCCACCATCTGCCCCCACCTCCTCTCCATCCTTCACACGCCCTTCACTCCCCTTCTTGCCCTTGCACACCTCCACCTTTGAGCCTTCGAATTTGTTGTGTTCCCTCTGCCTGGAGTGCTCTTCCGCTAGGCCACGTGGCTCCCTCCGGCCCCTCATTTAGTCACTGTTCAAATGTCACCTTCTGA... | CCTCGGCCTCCCAAAGCACTGGGATTACATGCATGAGCCACCGCGCCTGGCCAGACTATGCCATTCTTTTGCCCAAACTCTCCAGTGGCCCCAGTCTTGCTTAGAACCAAGTGAAACTTACACAGTGTGGCAGGCCCCACCATCTGCCCCCACCTCCTCTCCATCCTTCACACGCCCTTCACTCCCCTTCTTGCCCTTGCACACCTCCACCTTTGAGCCTTCGAATTTGTTGTGTTCCCTCTGCCTGGAGTGCTCTTCCGCTAGGCCACGTGGCTCCCTCCGGCCCCTCATTTAGTCACTGTTCAAATGTCACCTTCTGA... |
Task1_train_7667 | The gene MRAS (muscle RAS oncogene homolog) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; RASopathy | CCCAAAGCACTGGGATTACATGCATGAGCCACCGCGCCTGGCCAGACTATGCCATTCTTTTGCCCAAACTCTCCAGTGGCCCCAGTCTTGCTTAGAACCAAGTGAAACTTACACAGTGTGGCAGGCCCCACCATCTGCCCCCACCTCCTCTCCATCCTTCACACGCCCTTCACTCCCCTTCTTGCCCTTGCACACCTCCACCTTTGAGCCTTCGAATTTGTTGTGTTCCCTCTGCCTGGAGTGCTCTTCCGCTAGGCCACGTGGCTCCCTCCGGCCCCTCATTTAGTCACTGTTCAAATGTCACCTTCTGATATTGGTCC... | CCCAAAGCACTGGGATTACATGCATGAGCCACCGCGCCTGGCCAGACTATGCCATTCTTTTGCCCAAACTCTCCAGTGGCCCCAGTCTTGCTTAGAACCAAGTGAAACTTACACAGTGTGGCAGGCCCCACCATCTGCCCCCACCTCCTCTCCATCCTTCACACGCCCTTCACTCCCCTTCTTGCCCTTGCACACCTCCACCTTTGAGCCTTCGAATTTGTTGTGTTCCCTCTGCCTGGAGTGCTCTTCCGCTAGGCCACGTGGCTCCCTCCGGCCCCTCATTTAGTCACTGTTCAAATGTCACCTTCTGATATTGGTCC... |
Task1_train_7668 | A variant affecting Chromosome 3, within the gene FOXL2 (forkhead box L2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | AGCCGCAACGGGCCAGTGATGACACAGAAAACAAACAATCCCAGGAAAACAAAGCAGCAGCGACAGCCACAAACGCCTGCCACCCCGGTTGCTCTCAATCTTTGTTTAACTCATTCTGAAAAAGATAAAATTTTGCTGAAAATCTTCCTCTTTTAACTAGCTGCTGAACTAAGGAGCGACAGAAATAAAGAAGTCCGTGTTAAAAGAAGGAACACAAAATTTATTCGGGAATCGACAAGGCAAAAAACAAAAACAAAACAAAAAAACACAACAAAAGTGCTCTAGTTCTCTCTAGAAAATTTGGTCCCCCAAACAACAAG... | AGCCGCAACGGGCCAGTGATGACACAGAAAACAAACAATCCCAGGAAAACAAAGCAGCAGCGACAGCCACAAACGCCTGCCACCCCGGTTGCTCTCAATCTTTGTTTAACTCATTCTGAAAAAGATAAAATTTTGCTGAAAATCTTCCTCTTTTAACTAGCTGCTGAACTAAGGAGCGACAGAAATAAAGAAGTCCGTGTTAAAAGAAGGAACACAAAATTTATTCGGGAATCGACAAGGCAAAAAACAAAAACAAAACAAAAAAACACAACAAAAGTGCTCTAGTTCTCTCTAGAAAATTTGGTCCCCCAAACAACAAG... |
Task1_train_7669 | Assess the clinical impact of this variant on gene FOXL2 (forkhead box L2), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; FOXL2-related disorder | TTTCACATTTCTCCTTCCCAAGGTGGGAGAAGCAGGAGGTTTGAAAAACAAAAAGCAGGGAGGACGAGCCGTCCCAGCAGCGTGGGCCAGGCAGGCAGTGATCTCCCTGCCTCCAGGACTTGCATCGAAAGATCCGGGGACATTTGTTTTTGATTTTTTTCTTCAGATAGGGAGAGGGTGAAACTTCCCCAATTGGTAGACGAAACCATCTTTTATTGGATATATTCTCCTAACTCTGAACACAGCTTTTTGAAGGCCCAACAAAAACTCTAACGCAAATCTTCCAGAAGAGAAGATGAGGAATACTAAAGCTTTTGATT... | TTTCACATTTCTCCTTCCCAAGGTGGGAGAAGCAGGAGGTTTGAAAAACAAAAAGCAGGGAGGACGAGCCGTCCCAGCAGCGTGGGCCAGGCAGGCAGTGATCTCCCTGCCTCCAGGACTTGCATCGAAAGATCCGGGGACATTTGTTTTTGATTTTTTTCTTCAGATAGGGAGAGGGTGAAACTTCCCCAATTGGTAGACGAAACCATCTTTTATTGGATATATTCTCCTAACTCTGAACACAGCTTTTTGAAGGCCCAACAAAAACTCTAACGCAAATCTTCCAGAAGAGAAGATGAGGAATACTAAAGCTTTTGATT... |
Task1_train_7670 | A variant affecting Chromosome 3, within the gene FOXL2 (forkhead box L2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | TTTCACATTTCTCCTTCCCAAGGTGGGAGAAGCAGGAGGTTTGAAAAACAAAAAGCAGGGAGGACGAGCCGTCCCAGCAGCGTGGGCCAGGCAGGCAGTGATCTCCCTGCCTCCAGGACTTGCATCGAAAGATCCGGGGACATTTGTTTTTGATTTTTTTCTTCAGATAGGGAGAGGGTGAAACTTCCCCAATTGGTAGACGAAACCATCTTTTATTGGATATATTCTCCTAACTCTGAACACAGCTTTTTGAAGGCCCAACAAAAACTCTAACGCAAATCTTCCAGAAGAGAAGATGAGGAATACTAAAGCTTTTGATT... | TTTCACATTTCTCCTTCCCAAGGTGGGAGAAGCAGGAGGTTTGAAAAACAAAAAGCAGGGAGGACGAGCCGTCCCAGCAGCGTGGGCCAGGCAGGCAGTGATCTCCCTGCCTCCAGGACTTGCATCGAAAGATCCGGGGACATTTGTTTTTGATTTTTTTCTTCAGATAGGGAGAGGGTGAAACTTCCCCAATTGGTAGACGAAACCATCTTTTATTGGATATATTCTCCTAACTCTGAACACAGCTTTTTGAAGGCCCAACAAAAACTCTAACGCAAATCTTCCAGAAGAGAAGATGAGGAATACTAAAGCTTTTGATT... |
Task1_train_7671 | Mutation context: Chromosome 3, Gene FOXL2 (forkhead box L2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | AACAAAAAGCAGGGAGGACGAGCCGTCCCAGCAGCGTGGGCCAGGCAGGCAGTGATCTCCCTGCCTCCAGGACTTGCATCGAAAGATCCGGGGACATTTGTTTTTGATTTTTTTCTTCAGATAGGGAGAGGGTGAAACTTCCCCAATTGGTAGACGAAACCATCTTTTATTGGATATATTCTCCTAACTCTGAACACAGCTTTTTGAAGGCCCAACAAAAACTCTAACGCAAATCTTCCAGAAGAGAAGATGAGGAATACTAAAGCTTTTGATTTTCATATTTGGATTTAGCAAACTCCAAGGCCACAATACTTCCCCGG... | AACAAAAAGCAGGGAGGACGAGCCGTCCCAGCAGCGTGGGCCAGGCAGGCAGTGATCTCCCTGCCTCCAGGACTTGCATCGAAAGATCCGGGGACATTTGTTTTTGATTTTTTTCTTCAGATAGGGAGAGGGTGAAACTTCCCCAATTGGTAGACGAAACCATCTTTTATTGGATATATTCTCCTAACTCTGAACACAGCTTTTTGAAGGCCCAACAAAAACTCTAACGCAAATCTTCCAGAAGAGAAGATGAGGAATACTAAAGCTTTTGATTTTCATATTTGGATTTAGCAAACTCCAAGGCCACAATACTTCCCCGG... |
Task1_train_7672 | This is a variant in FOXL2 (forkhead box L2), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Blepharophimosis, ptosis, and epicanthus inversus syndrome | CAGGCAGTGATCTCCCTGCCTCCAGGACTTGCATCGAAAGATCCGGGGACATTTGTTTTTGATTTTTTTCTTCAGATAGGGAGAGGGTGAAACTTCCCCAATTGGTAGACGAAACCATCTTTTATTGGATATATTCTCCTAACTCTGAACACAGCTTTTTGAAGGCCCAACAAAAACTCTAACGCAAATCTTCCAGAAGAGAAGATGAGGAATACTAAAGCTTTTGATTTTCATATTTGGATTTAGCAAACTCCAAGGCCACAATACTTCCCCGGTTGCCCGGTGAATTTTTTTTCCTTTTTTTTTTTTTAAATACTCTC... | CAGGCAGTGATCTCCCTGCCTCCAGGACTTGCATCGAAAGATCCGGGGACATTTGTTTTTGATTTTTTTCTTCAGATAGGGAGAGGGTGAAACTTCCCCAATTGGTAGACGAAACCATCTTTTATTGGATATATTCTCCTAACTCTGAACACAGCTTTTTGAAGGCCCAACAAAAACTCTAACGCAAATCTTCCAGAAGAGAAGATGAGGAATACTAAAGCTTTTGATTTTCATATTTGGATTTAGCAAACTCCAAGGCCACAATACTTCCCCGGTTGCCCGGTGAATTTTTTTTCCTTTTTTTTTTTTTAAATACTCTC... |
Task1_train_7673 | Located on Chromosome 3, this mutation impacts MRPS22 (mitochondrial ribosomal protein S22). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hypotonia with lactic acidemia and hyperammonemia | AACAGAAACAACCAAATATGTGTTTACTGATATATCATATAGCATACCACACCGGGTGAGTATATGTCTAATCGCAAAATGATCTTTCTTTGAAATACTATGTGGAGAAGGGCTTGAGAGATGATGTGACCTGGCTGTCTCTGATGCGTCCAAACCAGATTTCCTCTGACTGGGTGAGACCCTTCTGGAAGATATACTATATGAGGGATGAGAAATGCAGACCAGCCCCACATCATGGTGTTACCATTTCTCAGCAGATAATAGGCACAGTATTTTCCAGATTCCAGATGTGCTGAGGCAGAACAAGGAGTACACAGATA... | AACAGAAACAACCAAATATGTGTTTACTGATATATCATATAGCATACCACACCGGGTGAGTATATGTCTAATCGCAAAATGATCTTTCTTTGAAATACTATGTGGAGAAGGGCTTGAGAGATGATGTGACCTGGCTGTCTCTGATGCGTCCAAACCAGATTTCCTCTGACTGGGTGAGACCCTTCTGGAAGATATACTATATGAGGGATGAGAAATGCAGACCAGCCCCACATCATGGTGTTACCATTTCTCAGCAGATAATAGGCACAGTATTTTCCAGATTCCAGATGTGCTGAGGCAGAACAAGGAGTACACAGATA... |
Task1_train_7674 | With a mutation on Chromosome 3 in gene COPB2 (COPI coat complex subunit beta 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Microcephaly 19, primary, autosomal recessive | CTGAGCAGATCCAAAGCTCTTGTTTCTCAATGCCATTGCTGTGTAGATGATATACTCCCCATCACCACACACCACCACAAACCTAGAAATCACAGAAGCCAGGGAGGGAAGTACAGAGGACCAAAGACATGTAGAAGTTAAGGAACAATAATTCATGTTATGGTAAAAGAATTCTAATAACAAATGTTATTTAGTTCATTATTACAATTTAACATCTTTTAAAAGTTATACATTTCTTTGAATACAAAGTTACAAAAAAAATTCTAGCCAACAAATTGAAAAGGAAATTATGAATATGGCATTACTGCTGAAATGTTATT... | CTGAGCAGATCCAAAGCTCTTGTTTCTCAATGCCATTGCTGTGTAGATGATATACTCCCCATCACCACACACCACCACAAACCTAGAAATCACAGAAGCCAGGGAGGGAAGTACAGAGGACCAAAGACATGTAGAAGTTAAGGAACAATAATTCATGTTATGGTAAAAGAATTCTAATAACAAATGTTATTTAGTTCATTATTACAATTTAACATCTTTTAAAAGTTATACATTTCTTTGAATACAAAGTTACAAAAAAAATTCTAGCCAACAAATTGAAAAGGAAATTATGAATATGGCATTACTGCTGAAATGTTATT... |
Task1_train_7675 | A variant was discovered on Chromosome 3, affecting ATR (ATR checkpoint kinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | GGCATGAGAATAGATTTTATTCATCTTGTTTCCCTTAGCATAGTGCTTGTCCCCTCATAGGCACTGAAATGTGTACTAAAAGAATGAAAAGCAAAACCCCAACCCTCTTCCCTATCGTAAGTGTAGTTTAATAATGTATATGAATTTTGAAAGTTTAAAGATATGATATAATCATAGACTACCATAAGTAACTTAGAATATTTTACATACTTATATTTTTATGGCTTATTTCATATTCTCTACTAAAAATTGCTGAGAAACATGGATATCTACTCTCGGAAAATTCTTAATTCACACTAAGAAGAACTTTTAGAAATATT... | GGCATGAGAATAGATTTTATTCATCTTGTTTCCCTTAGCATAGTGCTTGTCCCCTCATAGGCACTGAAATGTGTACTAAAAGAATGAAAAGCAAAACCCCAACCCTCTTCCCTATCGTAAGTGTAGTTTAATAATGTATATGAATTTTGAAAGTTTAAAGATATGATATAATCATAGACTACCATAAGTAACTTAGAATATTTTACATACTTATATTTTTATGGCTTATTTCATATTCTCTACTAAAAATTGCTGAGAAACATGGATATCTACTCTCGGAAAATTCTTAATTCACACTAAGAAGAACTTTTAGAAATATT... |
Task1_train_7676 | This alteration in ATR (ATR checkpoint kinase) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Seckel syndrome 1 | CAGATTTCTGTTTTTGATGGAAGGATGGAATAAAGTCTTGTTCAGAGAAGTAGGAAACATGAGAGGAGAAACAGATATTGAGTATTAGGTAATAAATTGCATTTTGAACATTTTGAGTTTAAGGTATTATAATACATAGACTACCACTAGCTCAATAAAATGACCAGGTACTGACTAATGCACACTGAATAAATTGCTTTCCCCTCTCATCCAGGAAACCTCTCCTGTCCTTTCTCAGCCACCACAAGTTGGTGTAACCACAAATGGCACCAACAATAGTTGCTAAGTATCAATTCCAGAACATGCTATTATTATTAGTA... | CAGATTTCTGTTTTTGATGGAAGGATGGAATAAAGTCTTGTTCAGAGAAGTAGGAAACATGAGAGGAGAAACAGATATTGAGTATTAGGTAATAAATTGCATTTTGAACATTTTGAGTTTAAGGTATTATAATACATAGACTACCACTAGCTCAATAAAATGACCAGGTACTGACTAATGCACACTGAATAAATTGCTTTCCCCTCTCATCCAGGAAACCTCTCCTGTCCTTTCTCAGCCACCACAAGTTGGTGTAACCACAAATGGCACCAACAATAGTTGCTAAGTATCAATTCCAGAACATGCTATTATTATTAGTA... |
Task1_train_7677 | Given this context: Chromosome 3, gene ATR (ATR checkpoint kinase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | TCTGACTATAATTTGTTACACAGATTTGAATTTGGGACTATGCAAATGTTTTATATAACTTTTAAATTAAATAAAATAGAGGGAAAAAGCAACCCTTAAAAGTTTTAAAGAAACTGAAACAAGTGAACCTAACTAAATGTTAAATTGGTAGCACATGCACACAGAAAATAAGTACTTCACGTGATTCTAAAACCTATTCTTTATAAAAATTTTCTAGTAGCTACATTCACTTAAGACTTAGAAGCAATGACAGTAGGCCCAAAGAGTGCCTATGCTTGGAATTAATCTGGGCTCAAAGGAACCAGAGCCAGGTTTCCTTG... | TCTGACTATAATTTGTTACACAGATTTGAATTTGGGACTATGCAAATGTTTTATATAACTTTTAAATTAAATAAAATAGAGGGAAAAAGCAACCCTTAAAAGTTTTAAAGAAACTGAAACAAGTGAACCTAACTAAATGTTAAATTGGTAGCACATGCACACAGAAAATAAGTACTTCACGTGATTCTAAAACCTATTCTTTATAAAAATTTTCTAGTAGCTACATTCACTTAAGACTTAGAAGCAATGACAGTAGGCCCAAAGAGTGCCTATGCTTGGAATTAATCTGGGCTCAAAGGAACCAGAGCCAGGTTTCCTTG... |
Task1_train_7678 | Chromosome 3 houses a mutation in gene PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Bruck syndrome 2 | AAATCTACTAAGCAAAATGAAAAATCAAAGGCTTCATTCTTTCAGACAATTCCATCATGTATTCACGTTGGAAGATAAACACCAATAATAGAACAACAAAACTTTCTAAAATTATTTTATTTTTTATAATTTTCTAACACATGGTGTTAGAAAATGAATTTTGGCACCGTGATTAAGAATTTCTTTTCAAGTTTAACCTTTACATTAAAAACAGTAGCTACAATAAGGATATTTCAACCTTACTTAGAGAAGTGATAAAACATCAAGTCAACAAGTATTTTTGTTGGAGAATTTTTTTATAAGCGGGATAGAGGGAAGTT... | AAATCTACTAAGCAAAATGAAAAATCAAAGGCTTCATTCTTTCAGACAATTCCATCATGTATTCACGTTGGAAGATAAACACCAATAATAGAACAACAAAACTTTCTAAAATTATTTTATTTTTTATAATTTTCTAACACATGGTGTTAGAAAATGAATTTTGGCACCGTGATTAAGAATTTCTTTTCAAGTTTAACCTTTACATTAAAAACAGTAGCTACAATAAGGATATTTCAACCTTACTTAGAGAAGTGATAAAACATCAAGTCAACAAGTATTTTTGTTGGAGAATTTTTTTATAAGCGGGATAGAGGGAAGTT... |
Task1_train_7679 | A variant was discovered in gene PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Bruck syndrome 2 | AAATCAAAGGCTTCATTCTTTCAGACAATTCCATCATGTATTCACGTTGGAAGATAAACACCAATAATAGAACAACAAAACTTTCTAAAATTATTTTATTTTTTATAATTTTCTAACACATGGTGTTAGAAAATGAATTTTGGCACCGTGATTAAGAATTTCTTTTCAAGTTTAACCTTTACATTAAAAACAGTAGCTACAATAAGGATATTTCAACCTTACTTAGAGAAGTGATAAAACATCAAGTCAACAAGTATTTTTGTTGGAGAATTTTTTTATAAGCGGGATAGAGGGAAGTTAACATAGACACTCAGAAGAAT... | AAATCAAAGGCTTCATTCTTTCAGACAATTCCATCATGTATTCACGTTGGAAGATAAACACCAATAATAGAACAACAAAACTTTCTAAAATTATTTTATTTTTTATAATTTTCTAACACATGGTGTTAGAAAATGAATTTTGGCACCGTGATTAAGAATTTCTTTTCAAGTTTAACCTTTACATTAAAAACAGTAGCTACAATAAGGATATTTCAACCTTACTTAGAGAAGTGATAAAACATCAAGTCAACAAGTATTTTTGTTGGAGAATTTTTTTATAAGCGGGATAGAGGGAAGTTAACATAGACACTCAGAAGAAT... |
Task1_train_7680 | An alteration has been detected in PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | GAAGTTGTTCTGTTGATGTTATTTAAATATTCCTCTCATCTTCTCAGCCACAACTTCAAAGACGTGTTCATGCCAGTCATTCATCCAAAATAAATTTCAATTCAATGAAAAGTAAATAACTTAGGGATCTATAAATGACACTGCAATGTATCTTGTTCCATTTTTAACAGGAAGTCCTTCATGCAAATGTGTGAGTCTCCCAGGATGCATGAAGCTCCAGCCTTTTCGTGGTGACTCAATAGAGCAATTGTACCTTAGAAATTTGCAACCACCTCCCTAAAAAAGTTAAAATGAAGAAATACATCAGATTATATTTAACC... | GAAGTTGTTCTGTTGATGTTATTTAAATATTCCTCTCATCTTCTCAGCCACAACTTCAAAGACGTGTTCATGCCAGTCATTCATCCAAAATAAATTTCAATTCAATGAAAAGTAAATAACTTAGGGATCTATAAATGACACTGCAATGTATCTTGTTCCATTTTTAACAGGAAGTCCTTCATGCAAATGTGTGAGTCTCCCAGGATGCATGAAGCTCCAGCCTTTTCGTGGTGACTCAATAGAGCAATTGTACCTTAGAAATTTGCAACCACCTCCCTAAAAAAGTTAAAATGAAGAAATACATCAGATTATATTTAACC... |
Task1_train_7681 | This sequence change occurs on Chromosome 3, altering ZIC1 (Zic family member 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Craniosynostosis 6 | GCCAAACCTGGTTTGGCGGAGACCTTGGTGCTTTCGAAGCCGGAGAAAGTGGCTGGCTCCCGGCAGCCGCGGAGGCGCCAGCTGCTCAGGCTGCAGACAAATCTAAACCCTTGCTTGCTGCCAACATCTCTCTCCGTGCACTTCACTGAGGACTTTGCCAAAGGAAAGAGCTGAGGAAATTGAGGAGGCCGGGTTAAGGGCGTAGAAAGAAACAAAACAGAGACAGAAAGAATTGAGACAGAGTGGGGAAAGGAAATAATTTGGGATTGAGGAGGCTTTTGGAGCTTTATGCATATTTGAAGAGTTCAGTTTTAGTAGTG... | GCCAAACCTGGTTTGGCGGAGACCTTGGTGCTTTCGAAGCCGGAGAAAGTGGCTGGCTCCCGGCAGCCGCGGAGGCGCCAGCTGCTCAGGCTGCAGACAAATCTAAACCCTTGCTTGCTGCCAACATCTCTCTCCGTGCACTTCACTGAGGACTTTGCCAAAGGAAAGAGCTGAGGAAATTGAGGAGGCCGGGTTAAGGGCGTAGAAAGAAACAAAACAGAGACAGAAAGAATTGAGACAGAGTGGGGAAAGGAAATAATTTGGGATTGAGGAGGCTTTTGGAGCTTTATGCATATTTGAAGAGTTCAGTTTTAGTAGTG... |
Task1_train_7682 | This mutation is located in gene AGTR1 (angiotensin II receptor type 1) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Essential hypertension, genetic | GCTCAAAAAAGTTGGGAAGGCTTCACCAAAGATGTGACATTTAGGGTAGATAACACCTGTTTGTGGATACTAATGTCCTGGTGAGTCAAAGAAGAAAAGGATGTACATTATATAAGCTGGATGCAAAAAGGAACAATAATGAGGACATGCAACCAAAAACTTACATAGGGAGAACAACTTTACTTACTCAGGGAAGGCAAAGAGACCACTTAAGAACTCCTTCACATGTGTTATGTCTTAAAAGCTGACTACTGGAGTTGTATCCCTTGCACAGCATCCCTTTGCACCAAAGTGAACACTACTCTAAGAACATGTGTTCA... | GCTCAAAAAAGTTGGGAAGGCTTCACCAAAGATGTGACATTTAGGGTAGATAACACCTGTTTGTGGATACTAATGTCCTGGTGAGTCAAAGAAGAAAAGGATGTACATTATATAAGCTGGATGCAAAAAGGAACAATAATGAGGACATGCAACCAAAAACTTACATAGGGAGAACAACTTTACTTACTCAGGGAAGGCAAAGAGACCACTTAAGAACTCCTTCACATGTGTTATGTCTTAAAAGCTGACTACTGGAGTTGTATCCCTTGCACAGCATCCCTTTGCACCAAAGTGAACACTACTCTAAGAACATGTGTTCA... |
Task1_train_7683 | This variant impacts the gene AGTR1 (angiotensin II receptor type 1) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Essential hypertension, genetic | GCTCAAAAAAGTTGGGAAGGCTTCACCAAAGATGTGACATTTAGGGTAGATAACACCTGTTTGTGGATACTAATGTCCTGGTGAGTCAAAGAAGAAAAGGATGTACATTATATAAGCTGGATGCAAAAAGGAACAATAATGAGGACATGCAACCAAAAACTTACATAGGGAGAACAACTTTACTTACTCAGGGAAGGCAAAGAGACCACTTAAGAACTCCTTCACATGTGTTATGTCTTAAAAGCTGACTACTGGAGTTGTATCCCTTGCACAGCATCCCTTTGCACCAAAGTGAACACTACTCTAAGAACATGTGTTCA... | GCTCAAAAAAGTTGGGAAGGCTTCACCAAAGATGTGACATTTAGGGTAGATAACACCTGTTTGTGGATACTAATGTCCTGGTGAGTCAAAGAAGAAAAGGATGTACATTATATAAGCTGGATGCAAAAAGGAACAATAATGAGGACATGCAACCAAAAACTTACATAGGGAGAACAACTTTACTTACTCAGGGAAGGCAAAGAGACCACTTAAGAACTCCTTCACATGTGTTATGTCTTAAAAGCTGACTACTGGAGTTGTATCCCTTGCACAGCATCCCTTTGCACCAAAGTGAACACTACTCTAAGAACATGTGTTCA... |
Task1_train_7684 | Gene AGTR1 (angiotensin II receptor type 1), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Renal tubular dysgenesis of genetic origin | GCTCAAAAAAGTTGGGAAGGCTTCACCAAAGATGTGACATTTAGGGTAGATAACACCTGTTTGTGGATACTAATGTCCTGGTGAGTCAAAGAAGAAAAGGATGTACATTATATAAGCTGGATGCAAAAAGGAACAATAATGAGGACATGCAACCAAAAACTTACATAGGGAGAACAACTTTACTTACTCAGGGAAGGCAAAGAGACCACTTAAGAACTCCTTCACATGTGTTATGTCTTAAAAGCTGACTACTGGAGTTGTATCCCTTGCACAGCATCCCTTTGCACCAAAGTGAACACTACTCTAAGAACATGTGTTCA... | GCTCAAAAAAGTTGGGAAGGCTTCACCAAAGATGTGACATTTAGGGTAGATAACACCTGTTTGTGGATACTAATGTCCTGGTGAGTCAAAGAAGAAAAGGATGTACATTATATAAGCTGGATGCAAAAAGGAACAATAATGAGGACATGCAACCAAAAACTTACATAGGGAGAACAACTTTACTTACTCAGGGAAGGCAAAGAGACCACTTAAGAACTCCTTCACATGTGTTATGTCTTAAAAGCTGACTACTGGAGTTGTATCCCTTGCACAGCATCCCTTTGCACCAAAGTGAACACTACTCTAAGAACATGTGTTCA... |
Task1_train_7685 | An alteration has been detected in AGTR1 (angiotensin II receptor type 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Renal tubular dysgenesis | TTCATCTGGGGACCTGCTCCTGGTAGAGCAATAGGATCTGTGTGCCCAGCACCACTGCCCACCTAGCTGTCCTGGCCTGTGCCCAATGCTGACCTTCACCTCAGAGTGTGGCTGTACCACATTCGGTGATGTCACTCTCACTGAACCTTCAGCCTCCTTCCTGGGACTTCCTGATGGACTGTTATCCAGGGCAGAATGTGTTGATTTTCTAAATCACATAAATGAATAGCTTGACTGTTGATTATGTAGAAAATCAGAGCAAATATTTGCATGGCTTTGTGCAGCCCATTCTTGAGCATCTGATTCTCCCCAGAATTCTA... | TTCATCTGGGGACCTGCTCCTGGTAGAGCAATAGGATCTGTGTGCCCAGCACCACTGCCCACCTAGCTGTCCTGGCCTGTGCCCAATGCTGACCTTCACCTCAGAGTGTGGCTGTACCACATTCGGTGATGTCACTCTCACTGAACCTTCAGCCTCCTTCCTGGGACTTCCTGATGGACTGTTATCCAGGGCAGAATGTGTTGATTTTCTAAATCACATAAATGAATAGCTTGACTGTTGATTATGTAGAAAATCAGAGCAAATATTTGCATGGCTTTGTGCAGCCCATTCTTGAGCATCTGATTCTCCCCAGAATTCTA... |
Task1_train_7686 | This variant impacts the gene GYG1 (glycogenin 1) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | CCATGCTCTTTTCAGGAATTGAGCACCGGGTAGAGAAAAATGAGAGATGCTGAGTGCAGGATTGCTGTATTTGAAACCTCCTCCTAGCTTTTGGGAGATATTCCAACTCAATTCTTTTCTGGAAGGTGTTATGCTGGCCCACACTTTCTGGTTCCAACTAGGAGGGGAAAGAAGGAGTCGTCTTCCTTCACTCCATCCCCTCTGGGTGATCTGAAGGAGTGTGTCAGGCATTCCCTGCTTACATACACCTTTACACAGTCACAATTCATGGACATTCCTTTCCCAGGATGCAGCAGGGGCTACATTGTTTCATGTTGCAA... | CCATGCTCTTTTCAGGAATTGAGCACCGGGTAGAGAAAAATGAGAGATGCTGAGTGCAGGATTGCTGTATTTGAAACCTCCTCCTAGCTTTTGGGAGATATTCCAACTCAATTCTTTTCTGGAAGGTGTTATGCTGGCCCACACTTTCTGGTTCCAACTAGGAGGGGAAAGAAGGAGTCGTCTTCCTTCACTCCATCCCCTCTGGGTGATCTGAAGGAGTGTGTCAGGCATTCCCTGCTTACATACACCTTTACACAGTCACAATTCATGGACATTCCTTTCCCAGGATGCAGCAGGGGCTACATTGTTTCATGTTGCAA... |
Task1_train_7687 | A variant affecting Chromosome 3, within the gene CP (ceruloplasmin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Deficiency of ferroxidase | GCTTCTCTTACATGGAGGTGCCACCTAGAAAAAAAATTGTTTTTTGTTAAGAAAGAAATTAGATTCTAAATGTGTCTTATGTAAATAATGGTTTGTTTCTTGGTAAATAACATGACTACTCCCTTATATCAGCTTTAAGTATAATTACACATTTGTATTAACTTAGAAATGACTGGTGCTGTTACAAGTACTGGCTGTCAGGAAATGAGCAGTATCCCTCACCATTTAGCAGGAAAAAAATCCTGTTTGGAGGTAGAGAAGGAAGAAATCAGGGCAGCAGATTCACAAATGCTTCATATTGATGCATCATATTGGGGGAA... | GCTTCTCTTACATGGAGGTGCCACCTAGAAAAAAAATTGTTTTTTGTTAAGAAAGAAATTAGATTCTAAATGTGTCTTATGTAAATAATGGTTTGTTTCTTGGTAAATAACATGACTACTCCCTTATATCAGCTTTAAGTATAATTACACATTTGTATTAACTTAGAAATGACTGGTGCTGTTACAAGTACTGGCTGTCAGGAAATGAGCAGTATCCCTCACCATTTAGCAGGAAAAAAATCCTGTTTGGAGGTAGAGAAGGAAGAAATCAGGGCAGCAGATTCACAAATGCTTCATATTGATGCATCATATTGGGGGAA... |
Task1_train_7688 | A variant was discovered on Chromosome 3, affecting CP (ceruloplasmin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Deficiency of ferroxidase | TTTTTGTATTCCTAATAAGTCTTTGGTATCCACATCAAGTGGGTGTGAAAGAAAGATGTGATGAGAATGAATTCATCAATCAGGACTACCTACAAACCTCCTGTACCTTGATTCTGGTTTGCCTGTTTGTCATAGCACTTAAGCTACACAAAAGGAACTCAGCTGTGGCCCCATTTCAGCCCTAGCCTCACTTTTGCCTGAATCTGTCCTAGCTTGTCTGAAGCTTTAAGTCAAGGTAAATAATAAAGGAAGCAGAAAAGGAGGCTGATGAAAACGACAAAAACCAGAGGCACTTCAGGGAGTCTCGGCTGGAAACAGTA... | TTTTTGTATTCCTAATAAGTCTTTGGTATCCACATCAAGTGGGTGTGAAAGAAAGATGTGATGAGAATGAATTCATCAATCAGGACTACCTACAAACCTCCTGTACCTTGATTCTGGTTTGCCTGTTTGTCATAGCACTTAAGCTACACAAAAGGAACTCAGCTGTGGCCCCATTTCAGCCCTAGCCTCACTTTTGCCTGAATCTGTCCTAGCTTGTCTGAAGCTTTAAGTCAAGGTAAATAATAAAGGAAGCAGAAAAGGAGGCTGATGAAAACGACAAAAACCAGAGGCACTTCAGGGAGTCTCGGCTGGAAACAGTA... |
Task1_train_7689 | Gene CP (ceruloplasmin) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Deficiency of ferroxidase | TTATTTGAACAACTTTGATATATGAACCAAGAAAATGAAACCCATAGACATGAATTGACGGTTACTGCAGGTAGCATCACATCATTAACCCACACCTGATAAACTGGAGATATTAACATACCTAGAATTCCCAGATGTTCTTCTTCAGCTTTTCTCTCCACTGGAACACGGAATGTGCTATCAGTATACTGCCGATACACAACTTTCTTGTACTTTGAGCCTATGTAAAACTCTCCCTTATCTAAAAATGCATTTGAAACACTTAAAAAAAAAAACAACTAAGGTTAGTATTTGTCTTAATGAAAATGTAACTTAAGTTT... | TTATTTGAACAACTTTGATATATGAACCAAGAAAATGAAACCCATAGACATGAATTGACGGTTACTGCAGGTAGCATCACATCATTAACCCACACCTGATAAACTGGAGATATTAACATACCTAGAATTCCCAGATGTTCTTCTTCAGCTTTTCTCTCCACTGGAACACGGAATGTGCTATCAGTATACTGCCGATACACAACTTTCTTGTACTTTGAGCCTATGTAAAACTCTCCCTTATCTAAAAATGCATTTGAAACACTTAAAAAAAAAAACAACTAAGGTTAGTATTTGTCTTAATGAAAATGTAACTTAAGTTT... |
Task1_train_7690 | The gene CP (ceruloplasmin) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Deficiency of ferroxidase | CTATTCATACAGAATTTATTTTGTACTTTTCCATGATGGACATGTTACTGGTAATTTTGTGCCATATTTTCCTGTAAGTTCTTAGAGGATAGAGACTATATCTATCATCTTCAAGCATTTAAAATATTCCATACGTAACGGTTTTAAGGATGTGAAATGACCGATTGTTAGACTAACAATGAAAACTCTGAAGGAAAAATAAGCAACAAACAGTTGCTAAGGGGAGTAATATTTCTGCTCTGAATTTGGGCATTAACTTTTGTTAAGTTTGAATATAAATGACAACATGAGGGCACATGAATGTGAGAAGACACTCCAGT... | CTATTCATACAGAATTTATTTTGTACTTTTCCATGATGGACATGTTACTGGTAATTTTGTGCCATATTTTCCTGTAAGTTCTTAGAGGATAGAGACTATATCTATCATCTTCAAGCATTTAAAATATTCCATACGTAACGGTTTTAAGGATGTGAAATGACCGATTGTTAGACTAACAATGAAAACTCTGAAGGAAAAATAAGCAACAAACAGTTGCTAAGGGGAGTAATATTTCTGCTCTGAATTTGGGCATTAACTTTTGTTAAGTTTGAATATAAATGACAACATGAGGGCACATGAATGTGAGAAGACACTCCAGT... |
Task1_train_7691 | This variant impacts the gene CP (ceruloplasmin) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Deficiency of ferroxidase | TTTCTATTAATTATTTTGCATATCCAGCTAGAAGCGGAATCGCTTCTAGCTGGATATGCAAAATAATTAAAAGCAGAGATTTGAACAGTGATATTTGTATAACAATTGTTCATAGCAACATTAGTCACAATAGCCAAAAGGTGGAAATGACCCAAATGTTTATCAACAGATGAATGAATAAACAAAATATGGTATATACATACAATGAAGCATTATTCAGCCTTAAAGAGGAATGAAATTCTGATGCATGCTACAACATGAACAAATCTTAAAACATTATGCTAAGTGATATAAAAGACACAAAAGAACCAATATTGTAT... | TTTCTATTAATTATTTTGCATATCCAGCTAGAAGCGGAATCGCTTCTAGCTGGATATGCAAAATAATTAAAAGCAGAGATTTGAACAGTGATATTTGTATAACAATTGTTCATAGCAACATTAGTCACAATAGCCAAAAGGTGGAAATGACCCAAATGTTTATCAACAGATGAATGAATAAACAAAATATGGTATATACATACAATGAAGCATTATTCAGCCTTAAAGAGGAATGAAATTCTGATGCATGCTACAACATGAACAAATCTTAAAACATTATGCTAAGTGATATAAAAGACACAAAAGAACCAATATTGTAT... |
Task1_train_7692 | Chromosome 3 houses a mutation in gene CP (ceruloplasmin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Deficiency of ferroxidase | CTTTTAGATTCTGATTCCCAGTAACCACCTTTTTCAGCTGACTGCTAATTTCAGGTAAAGATGTCCTACCTTTCAGATGGTTTAGATTCTGACAGCTGAGCATCCATTCTCCAGGGTTCTGGGCCACCATATAAGCATCAAACAGGGTAGCAGGAAAGAGGTTGATTGTGTCAATACGGTAGTTCTTGTTAGTCAGTGCTTGCCCGTGAAAGAAAGCTGCGTGCACATCAACTTCATTACCCATACCAAAAAGGTACCATTTTACTCTGTCTTCAGCACACATGGAGAGTCCTGGGAGACTTCCAAAAGTGTATCCATTC... | CTTTTAGATTCTGATTCCCAGTAACCACCTTTTTCAGCTGACTGCTAATTTCAGGTAAAGATGTCCTACCTTTCAGATGGTTTAGATTCTGACAGCTGAGCATCCATTCTCCAGGGTTCTGGGCCACCATATAAGCATCAAACAGGGTAGCAGGAAAGAGGTTGATTGTGTCAATACGGTAGTTCTTGTTAGTCAGTGCTTGCCCGTGAAAGAAAGCTGCGTGCACATCAACTTCATTACCCATACCAAAAAGGTACCATTTTACTCTGTCTTCAGCACACATGGAGAGTCCTGGGAGACTTCCAAAAGTGTATCCATTC... |
Task1_train_7693 | Assess the clinical impact of this variant on gene CP (ceruloplasmin), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Deficiency of ferroxidase | ATATGAAGGAGGGAAAAAATGTAGAAGGGCAGCAGGGACAGAGCCACAAAGACCTAAAAGTTCATAGGCAAGGTGGCCTGAAACCCTCAGAAGAAACTTATGGTCACTGTTCAAACTGGGTGGCCCTAAAAATTTCCCAAGTGGAAATTAGTTCTGGGAAGAATCCTGAGTGCACCACATGTAACACTGGTACCAAATCAAACCTGCTCAGGCTAGAATTTTGAGTATCTTTTTATAACAACTATTTTTGTTAGTACACAACAGAGACAGGATTAAAGTATGGAAAGAGGACCTTCCACCCAGATATAAGTAAAAGTTGG... | ATATGAAGGAGGGAAAAAATGTAGAAGGGCAGCAGGGACAGAGCCACAAAGACCTAAAAGTTCATAGGCAAGGTGGCCTGAAACCCTCAGAAGAAACTTATGGTCACTGTTCAAACTGGGTGGCCCTAAAAATTTCCCAAGTGGAAATTAGTTCTGGGAAGAATCCTGAGTGCACCACATGTAACACTGGTACCAAATCAAACCTGCTCAGGCTAGAATTTTGAGTATCTTTTTATAACAACTATTTTTGTTAGTACACAACAGAGACAGGATTAAAGTATGGAAAGAGGACCTTCCACCCAGATATAAGTAAAAGTTGG... |
Task1_train_7694 | This sequence change occurs on Chromosome 3, altering CP (ceruloplasmin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Deficiency of ferroxidase | AACTTATGGTCACTGTTCAAACTGGGTGGCCCTAAAAATTTCCCAAGTGGAAATTAGTTCTGGGAAGAATCCTGAGTGCACCACATGTAACACTGGTACCAAATCAAACCTGCTCAGGCTAGAATTTTGAGTATCTTTTTATAACAACTATTTTTGTTAGTACACAACAGAGACAGGATTAAAGTATGGAAAGAGGACCTTCCACCCAGATATAAGTAAAAGTTGGAAACAAAATCTGTACTTTGTTAACTAGTTTATTTTTCTACTTTGGTAGTATCGTTATTTTTGTGCTCTCGGTTTCTGAGTACAGGTTATTTTGA... | AACTTATGGTCACTGTTCAAACTGGGTGGCCCTAAAAATTTCCCAAGTGGAAATTAGTTCTGGGAAGAATCCTGAGTGCACCACATGTAACACTGGTACCAAATCAAACCTGCTCAGGCTAGAATTTTGAGTATCTTTTTATAACAACTATTTTTGTTAGTACACAACAGAGACAGGATTAAAGTATGGAAAGAGGACCTTCCACCCAGATATAAGTAAAAGTTGGAAACAAAATCTGTACTTTGTTAACTAGTTTATTTTTCTACTTTGGTAGTATCGTTATTTTTGTGCTCTCGGTTTCTGAGTACAGGTTATTTTGA... |
Task1_train_7695 | This variant lies on Chromosome 3 and affects the gene RNF13 (ring finger protein 13). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Developmental and epileptic encephalopathy, 73 | AATGTAATTTAGATACTATAGTAACCAAATTCAAGGTAATGGACAAAACTTAGTAATTTTCATTAAAGCTTTCTATTTCGGGCTTCTCCTGAATGTGTGTTTTAAATGACTAGGACATTAAAGGGATTGTTTCAGAAGAACTATCAGCACCTTTTTTATGTGTCATGTTCATCCAGACTATCCATCCAGATAATTGCTTTATTTCTGATATGTCTTCCAAGGTTGTTACCCCGTGTGGGATAGGCAATGAATTTAACTGTCTTTTGTCCCTAAAAGTTTTATAAGTTTTTATCTAACATATTCATGTAGTGGAAAAAAAC... | AATGTAATTTAGATACTATAGTAACCAAATTCAAGGTAATGGACAAAACTTAGTAATTTTCATTAAAGCTTTCTATTTCGGGCTTCTCCTGAATGTGTGTTTTAAATGACTAGGACATTAAAGGGATTGTTTCAGAAGAACTATCAGCACCTTTTTTATGTGTCATGTTCATCCAGACTATCCATCCAGATAATTGCTTTATTTCTGATATGTCTTCCAAGGTTGTTACCCCGTGTGGGATAGGCAATGAATTTAACTGTCTTTTGTCCCTAAAAGTTTTATAAGTTTTTATCTAACATATTCATGTAGTGGAAAAAAAC... |
Task1_train_7696 | Gene RNF13 (ring finger protein 13) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 73 | GTAATTTAGATACTATAGTAACCAAATTCAAGGTAATGGACAAAACTTAGTAATTTTCATTAAAGCTTTCTATTTCGGGCTTCTCCTGAATGTGTGTTTTAAATGACTAGGACATTAAAGGGATTGTTTCAGAAGAACTATCAGCACCTTTTTTATGTGTCATGTTCATCCAGACTATCCATCCAGATAATTGCTTTATTTCTGATATGTCTTCCAAGGTTGTTACCCCGTGTGGGATAGGCAATGAATTTAACTGTCTTTTGTCCCTAAAAGTTTTATAAGTTTTTATCTAACATATTCATGTAGTGGAAAAAAACTCA... | GTAATTTAGATACTATAGTAACCAAATTCAAGGTAATGGACAAAACTTAGTAATTTTCATTAAAGCTTTCTATTTCGGGCTTCTCCTGAATGTGTGTTTTAAATGACTAGGACATTAAAGGGATTGTTTCAGAAGAACTATCAGCACCTTTTTTATGTGTCATGTTCATCCAGACTATCCATCCAGATAATTGCTTTATTTCTGATATGTCTTCCAAGGTTGTTACCCCGTGTGGGATAGGCAATGAATTTAACTGTCTTTTGTCCCTAAAAGTTTTATAAGTTTTTATCTAACATATTCATGTAGTGGAAAAAAACTCA... |
Task1_train_7697 | Gene CLRN1 (clarin 1) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Retinal dystrophy | CAGACCCTTCTTCTAAGGGCTCCCCATAGGCCTGGGGACTATGCGTTTCATCTGCGAGAAGAGAGGGAGACCGGTGCTGCTGGTGCCGGGTTGTTTCCTGCTTTATTTTGTGTGCGGTGTGCTCTGCAGGGACCTTTTGAGTGTCTGTCACAGCCCTGCTTCTCCTTTCCAGCCAGGGAACATGGTGGGTTTGCCTCTTAGTTCCTCATTAGATTTTTCAGCAGCTGCTCCAGGTTTTCTTTCTCTTTCTACGGAACAGAGAACGATTGGAGACTTGTTTTCTAAAGAAAAAAGCCTGGTGTTCGAAGGAGTTTTTCAAA... | CAGACCCTTCTTCTAAGGGCTCCCCATAGGCCTGGGGACTATGCGTTTCATCTGCGAGAAGAGAGGGAGACCGGTGCTGCTGGTGCCGGGTTGTTTCCTGCTTTATTTTGTGTGCGGTGTGCTCTGCAGGGACCTTTTGAGTGTCTGTCACAGCCCTGCTTCTCCTTTCCAGCCAGGGAACATGGTGGGTTTGCCTCTTAGTTCCTCATTAGATTTTTCAGCAGCTGCTCCAGGTTTTCTTTCTCTTTCTACGGAACAGAGAACGATTGGAGACTTGTTTTCTAAAGAAAAAAGCCTGGTGTTCGAAGGAGTTTTTCAAA... |
Task1_train_7698 | A mutation on Chromosome 3 affecting CLRN1 (clarin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Retinitis pigmentosa 61 | CAGACCCTTCTTCTAAGGGCTCCCCATAGGCCTGGGGACTATGCGTTTCATCTGCGAGAAGAGAGGGAGACCGGTGCTGCTGGTGCCGGGTTGTTTCCTGCTTTATTTTGTGTGCGGTGTGCTCTGCAGGGACCTTTTGAGTGTCTGTCACAGCCCTGCTTCTCCTTTCCAGCCAGGGAACATGGTGGGTTTGCCTCTTAGTTCCTCATTAGATTTTTCAGCAGCTGCTCCAGGTTTTCTTTCTCTTTCTACGGAACAGAGAACGATTGGAGACTTGTTTTCTAAAGAAAAAAGCCTGGTGTTCGAAGGAGTTTTTCAAA... | CAGACCCTTCTTCTAAGGGCTCCCCATAGGCCTGGGGACTATGCGTTTCATCTGCGAGAAGAGAGGGAGACCGGTGCTGCTGGTGCCGGGTTGTTTCCTGCTTTATTTTGTGTGCGGTGTGCTCTGCAGGGACCTTTTGAGTGTCTGTCACAGCCCTGCTTCTCCTTTCCAGCCAGGGAACATGGTGGGTTTGCCTCTTAGTTCCTCATTAGATTTTTCAGCAGCTGCTCCAGGTTTTCTTTCTCTTTCTACGGAACAGAGAACGATTGGAGACTTGTTTTCTAAAGAAAAAAGCCTGGTGTTCGAAGGAGTTTTTCAAA... |
Task1_train_7699 | Chromosome 3 houses a mutation in gene CLRN1 (clarin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Usher syndrome type 3A | CAGACCCTTCTTCTAAGGGCTCCCCATAGGCCTGGGGACTATGCGTTTCATCTGCGAGAAGAGAGGGAGACCGGTGCTGCTGGTGCCGGGTTGTTTCCTGCTTTATTTTGTGTGCGGTGTGCTCTGCAGGGACCTTTTGAGTGTCTGTCACAGCCCTGCTTCTCCTTTCCAGCCAGGGAACATGGTGGGTTTGCCTCTTAGTTCCTCATTAGATTTTTCAGCAGCTGCTCCAGGTTTTCTTTCTCTTTCTACGGAACAGAGAACGATTGGAGACTTGTTTTCTAAAGAAAAAAGCCTGGTGTTCGAAGGAGTTTTTCAAA... | CAGACCCTTCTTCTAAGGGCTCCCCATAGGCCTGGGGACTATGCGTTTCATCTGCGAGAAGAGAGGGAGACCGGTGCTGCTGGTGCCGGGTTGTTTCCTGCTTTATTTTGTGTGCGGTGTGCTCTGCAGGGACCTTTTGAGTGTCTGTCACAGCCCTGCTTCTCCTTTCCAGCCAGGGAACATGGTGGGTTTGCCTCTTAGTTCCTCATTAGATTTTTCAGCAGCTGCTCCAGGTTTTCTTTCTCTTTCTACGGAACAGAGAACGATTGGAGACTTGTTTTCTAAAGAAAAAAGCCTGGTGTTCGAAGGAGTTTTTCAAA... |
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