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_600 | Here is a mutation in SELENON (selenoprotein N) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Eichsfeld type congenital muscular dystrophy | CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGC... | CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGC... |
Task1_train_601 | This alteration in SELENON (selenoprotein N) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Eichsfeld type congenital muscular dystrophy | CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGC... | CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGC... |
Task1_train_602 | Chromosome 1 houses a mutation in gene SELENON (selenoprotein N). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Eichsfeld type congenital muscular dystrophy | CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGC... | CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGC... |
Task1_train_603 | The gene SELENON (selenoprotein N) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Eichsfeld type congenital muscular dystrophy | TCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAG... | TCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAG... |
Task1_train_604 | The gene SLC30A2 (solute carrier family 30 member 2) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Zinc deficiency, transient neonatal | GTCACTGTCAGTTCACTCCATCATGTCACAGATGGGGAAACTGAGGCCTCTGAACAAAGACCCCGAAAGAGACACCCATTGTCTCTAACTGAGACCAATTTCAGACTTGGGTTCTGCCCCTAGGGACAGCTACTCCTGCAACAACTGGCCTCTTCCCGCCCCACTTCAGGTATGAAGCCACCAAGGCTAGTCCCTGACATGTATCAGGGAGTGGGTAGAGTGGATGAAGACTCCGATTTACAGCTCCCAGTGTTCTTGGCCTAGGCCTAAGGTAGGACCCAGGTGTTCCAGGTGCCAGAGCTCAGACCATTAGGGAAGTT... | GTCACTGTCAGTTCACTCCATCATGTCACAGATGGGGAAACTGAGGCCTCTGAACAAAGACCCCGAAAGAGACACCCATTGTCTCTAACTGAGACCAATTTCAGACTTGGGTTCTGCCCCTAGGGACAGCTACTCCTGCAACAACTGGCCTCTTCCCGCCCCACTTCAGGTATGAAGCCACCAAGGCTAGTCCCTGACATGTATCAGGGAGTGGGTAGAGTGGATGAAGACTCCGATTTACAGCTCCCAGTGTTCTTGGCCTAGGCCTAAGGTAGGACCCAGGTGTTCCAGGTGCCAGAGCTCAGACCATTAGGGAAGTT... |
Task1_train_605 | This variant lies on Chromosome 1 and affects the gene SLC30A2 (solute carrier family 30 member 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Zinc deficiency, transient neonatal | TTTCAGACTTGGGTTCTGCCCCTAGGGACAGCTACTCCTGCAACAACTGGCCTCTTCCCGCCCCACTTCAGGTATGAAGCCACCAAGGCTAGTCCCTGACATGTATCAGGGAGTGGGTAGAGTGGATGAAGACTCCGATTTACAGCTCCCAGTGTTCTTGGCCTAGGCCTAAGGTAGGACCCAGGTGTTCCAGGTGCCAGAGCTCAGACCATTAGGGAAGTTCTGTCCCTGTAGCGTATGCTGGAAAGTGGCACAGTCTCTTTCCGCAAAGCAGACATAGGTGTGGGTGTGAGAGGCGGGAGGAGGAGGGGAGACGAGGG... | TTTCAGACTTGGGTTCTGCCCCTAGGGACAGCTACTCCTGCAACAACTGGCCTCTTCCCGCCCCACTTCAGGTATGAAGCCACCAAGGCTAGTCCCTGACATGTATCAGGGAGTGGGTAGAGTGGATGAAGACTCCGATTTACAGCTCCCAGTGTTCTTGGCCTAGGCCTAAGGTAGGACCCAGGTGTTCCAGGTGCCAGAGCTCAGACCATTAGGGAAGTTCTGTCCCTGTAGCGTATGCTGGAAAGTGGCACAGTCTCTTTCCGCAAAGCAGACATAGGTGTGGGTGTGAGAGGCGGGAGGAGGAGGGGAGACGAGGG... |
Task1_train_606 | This alteration in TRIM63 (tripartite motif containing 63) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not specified | GGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCAGCTTGACCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCTCTCTGTTGCCTTTTAGCTGTGTTTCCCTTTTAGCTGTGTGACCTTCAACAAATTAACGTTTCCTGGGCCTCCCATATGTCCCAGTTCACACTCTTCCCTCCCTTTCAGGACCAAGACTGGATTCGGGAAGCTCTGCATCATTTGGTCCTAGGAGAGGTGGAAAAACAGCTCCTTTCCTAGCACCCTCCTCAACCGAAGCTCCCTTCTCTCTATGTTCTTTTCTATAA... | GGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCAGCTTGACCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCTCTCTGTTGCCTTTTAGCTGTGTTTCCCTTTTAGCTGTGTGACCTTCAACAAATTAACGTTTCCTGGGCCTCCCATATGTCCCAGTTCACACTCTTCCCTCCCTTTCAGGACCAAGACTGGATTCGGGAAGCTCTGCATCATTTGGTCCTAGGAGAGGTGGAAAAACAGCTCCTTTCCTAGCACCCTCCTCAACCGAAGCTCCCTTCTCTCTATGTTCTTTTCTATAA... |
Task1_train_607 | The gene TRIM63 (tripartite motif containing 63) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hypertrophic cardiomyopathy | GGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCAGCTTGACCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCTCTCTGTTGCCTTTTAGCTGTGTTTCCCTTTTAGCTGTGTGACCTTCAACAAATTAACGTTTCCTGGGCCTCCCATATGTCCCAGTTCACACTCTTCCCTCCCTTTCAGGACCAAGACTGGATTCGGGAAGCTCTGCATCATTTGGTCCTAGGAGAGGTGGAAAAACAGCTCCTTTCCTAGCACCCTCCTCAACCGAAGCTCCCTTCTCTCTATGTTCTTTTCTATAA... | GGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCAGCTTGACCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCTCTCTGTTGCCTTTTAGCTGTGTTTCCCTTTTAGCTGTGTGACCTTCAACAAATTAACGTTTCCTGGGCCTCCCATATGTCCCAGTTCACACTCTTCCCTCCCTTTCAGGACCAAGACTGGATTCGGGAAGCTCTGCATCATTTGGTCCTAGGAGAGGTGGAAAAACAGCTCCTTTCCTAGCACCCTCCTCAACCGAAGCTCCCTTCTCTCTATGTTCTTTTCTATAA... |
Task1_train_608 | This variant affects gene DHDDS (dehydrodolichyl diphosphate synthase subunit) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Retinitis pigmentosa 59 | AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGC... | AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGC... |
Task1_train_609 | Given this context: Chromosome 1, gene DHDDS (dehydrodolichyl diphosphate synthase subunit) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Retinitis pigmentosa 59 | AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGC... | AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGC... |
Task1_train_610 | This mutation occurs in DHDDS (dehydrodolichyl diphosphate synthase subunit) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Retinitis pigmentosa 59 | AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGC... | AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGC... |
Task1_train_611 | With a mutation on Chromosome 1 in gene DHDDS (dehydrodolichyl diphosphate synthase subunit), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Developmental delay and seizures with or without movement abnormalities | AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGC... | AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGC... |
Task1_train_612 | The gene DHDDS (dehydrodolichyl diphosphate synthase subunit), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Developmental delay and seizures with or without movement abnormalities | AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGC... | AATCGAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGC... |
Task1_train_613 | A variant found in Chromosome 1 affects DHDDS (dehydrodolichyl diphosphate synthase subunit). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Developmental delay and seizures with or without movement abnormalities | GAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCA... | GAGTAGATCTCTTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCA... |
Task1_train_614 | This gene mutation involves DHDDS (dehydrodolichyl diphosphate synthase subunit) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Developmental delay and seizures with or without movement abnormalities | TTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTAC... | TTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTAC... |
Task1_train_615 | The following genetic variant occurs in DHDDS (dehydrodolichyl diphosphate synthase subunit) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Retinitis pigmentosa 59 | TTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTAC... | TTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTAC... |
Task1_train_616 | This variant impacts the gene DHDDS (dehydrodolichyl diphosphate synthase subunit) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Retinitis pigmentosa 59 | TTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTAC... | TTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTAC... |
Task1_train_617 | The following genetic variant occurs in DHDDS (dehydrodolichyl diphosphate synthase subunit) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Retinitis pigmentosa | TTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTAC... | TTGATCCCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAGACCCCCGTCTCTACAAAATATAAAAAAATTAGCTGGGTGTGGTGGTGTATTCCTGTAGTCCCAGCTACTTGGGGAATTGAAGTGGGAGGACCTTTCTCCTCCCGAAAGGTGGAGGTTGCAAATGACCTGAGATAACACCACCACACTCCATCCACCTTGGGTAATAGAGTAAGACTCTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCCCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTTAC... |
Task1_train_618 | This variant affects the gene DHDDS (dehydrodolichyl diphosphate synthase subunit) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Retinitis pigmentosa 59 | CAGCCCAGATCTTTCTGCTTTCCTGACCATGCGTCCAGAAACATGTTCCCACCAAGAAATTTTTGTCTTCTGGACCCTTTCCAAGATGTAACTCTAACTACCTGGACATTCTGAATTCTGCTTCTGGGTAGTTGGTAGGACAGGTAAACAGCATTCTTGGAGCCAACAGACACCAGCCATGCAAATACCCTCTTTCTGTGGACAGGATAGTTTTACTTAAGATAAATGCTTCCACTCACCAGTTTTCTTCAATTCTATCTCCTTTCTGACCATCTCTGTGCTTGGGAAAGTAGCTCTTATCAAACACAGGAGAACTGATC... | CAGCCCAGATCTTTCTGCTTTCCTGACCATGCGTCCAGAAACATGTTCCCACCAAGAAATTTTTGTCTTCTGGACCCTTTCCAAGATGTAACTCTAACTACCTGGACATTCTGAATTCTGCTTCTGGGTAGTTGGTAGGACAGGTAAACAGCATTCTTGGAGCCAACAGACACCAGCCATGCAAATACCCTCTTTCTGTGGACAGGATAGTTTTACTTAAGATAAATGCTTCCACTCACCAGTTTTCTTCAATTCTATCTCCTTTCTGACCATCTCTGTGCTTGGGAAAGTAGCTCTTATCAAACACAGGAGAACTGATC... |
Task1_train_619 | The following genetic variant occurs in DHDDS (dehydrodolichyl diphosphate synthase subunit) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Developmental delay and seizures with or without movement abnormalities | CAGCCCAGATCTTTCTGCTTTCCTGACCATGCGTCCAGAAACATGTTCCCACCAAGAAATTTTTGTCTTCTGGACCCTTTCCAAGATGTAACTCTAACTACCTGGACATTCTGAATTCTGCTTCTGGGTAGTTGGTAGGACAGGTAAACAGCATTCTTGGAGCCAACAGACACCAGCCATGCAAATACCCTCTTTCTGTGGACAGGATAGTTTTACTTAAGATAAATGCTTCCACTCACCAGTTTTCTTCAATTCTATCTCCTTTCTGACCATCTCTGTGCTTGGGAAAGTAGCTCTTATCAAACACAGGAGAACTGATC... | CAGCCCAGATCTTTCTGCTTTCCTGACCATGCGTCCAGAAACATGTTCCCACCAAGAAATTTTTGTCTTCTGGACCCTTTCCAAGATGTAACTCTAACTACCTGGACATTCTGAATTCTGCTTCTGGGTAGTTGGTAGGACAGGTAAACAGCATTCTTGGAGCCAACAGACACCAGCCATGCAAATACCCTCTTTCTGTGGACAGGATAGTTTTACTTAAGATAAATGCTTCCACTCACCAGTTTTCTTCAATTCTATCTCCTTTCTGACCATCTCTGTGCTTGGGAAAGTAGCTCTTATCAAACACAGGAGAACTGATC... |
Task1_train_620 | Here is a mutation in DHDDS (dehydrodolichyl diphosphate synthase subunit) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Developmental delay and seizures with or without movement abnormalities | TTTCCTGACCATGCGTCCAGAAACATGTTCCCACCAAGAAATTTTTGTCTTCTGGACCCTTTCCAAGATGTAACTCTAACTACCTGGACATTCTGAATTCTGCTTCTGGGTAGTTGGTAGGACAGGTAAACAGCATTCTTGGAGCCAACAGACACCAGCCATGCAAATACCCTCTTTCTGTGGACAGGATAGTTTTACTTAAGATAAATGCTTCCACTCACCAGTTTTCTTCAATTCTATCTCCTTTCTGACCATCTCTGTGCTTGGGAAAGTAGCTCTTATCAAACACAGGAGAACTGATCATATTGCTGTTTATTTAA... | TTTCCTGACCATGCGTCCAGAAACATGTTCCCACCAAGAAATTTTTGTCTTCTGGACCCTTTCCAAGATGTAACTCTAACTACCTGGACATTCTGAATTCTGCTTCTGGGTAGTTGGTAGGACAGGTAAACAGCATTCTTGGAGCCAACAGACACCAGCCATGCAAATACCCTCTTTCTGTGGACAGGATAGTTTTACTTAAGATAAATGCTTCCACTCACCAGTTTTCTTCAATTCTATCTCCTTTCTGACCATCTCTGTGCTTGGGAAAGTAGCTCTTATCAAACACAGGAGAACTGATCATATTGCTGTTTATTTAA... |
Task1_train_621 | This variant affects gene DHDDS (dehydrodolichyl diphosphate synthase subunit) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Retinitis pigmentosa 59 | TTTCCTGACCATGCGTCCAGAAACATGTTCCCACCAAGAAATTTTTGTCTTCTGGACCCTTTCCAAGATGTAACTCTAACTACCTGGACATTCTGAATTCTGCTTCTGGGTAGTTGGTAGGACAGGTAAACAGCATTCTTGGAGCCAACAGACACCAGCCATGCAAATACCCTCTTTCTGTGGACAGGATAGTTTTACTTAAGATAAATGCTTCCACTCACCAGTTTTCTTCAATTCTATCTCCTTTCTGACCATCTCTGTGCTTGGGAAAGTAGCTCTTATCAAACACAGGAGAACTGATCATATTGCTGTTTATTTAA... | TTTCCTGACCATGCGTCCAGAAACATGTTCCCACCAAGAAATTTTTGTCTTCTGGACCCTTTCCAAGATGTAACTCTAACTACCTGGACATTCTGAATTCTGCTTCTGGGTAGTTGGTAGGACAGGTAAACAGCATTCTTGGAGCCAACAGACACCAGCCATGCAAATACCCTCTTTCTGTGGACAGGATAGTTTTACTTAAGATAAATGCTTCCACTCACCAGTTTTCTTCAATTCTATCTCCTTTCTGACCATCTCTGTGCTTGGGAAAGTAGCTCTTATCAAACACAGGAGAACTGATCATATTGCTGTTTATTTAA... |
Task1_train_622 | The following genetic variant occurs in ARID1A (AT-rich interaction domain 1A) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Intellectual disability, autosomal dominant 14 | CCGAGATTTCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAGAAAATCTGGGTGTTAGCTGGACATGGTGGTGCATGCCTCATAGTCTTAGGCACTCAGGAGGCTGAGGAAGGCAGATTGTTTGAGCTCAGGAGATTAAGGCTGCAGTAAGCTATGATCACACCACTGCATTCCAGCCAGGGTGCCAGAGCAATACCCTGTCTCAAGAAAATAAATTAAAGAAAAATAATATCTGGATGTTGCATAGTTCTAGTTTTGGGGACCCATAAATGTTTTCCTTTTAATCCTTACTA... | CCGAGATTTCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAGAAAATCTGGGTGTTAGCTGGACATGGTGGTGCATGCCTCATAGTCTTAGGCACTCAGGAGGCTGAGGAAGGCAGATTGTTTGAGCTCAGGAGATTAAGGCTGCAGTAAGCTATGATCACACCACTGCATTCCAGCCAGGGTGCCAGAGCAATACCCTGTCTCAAGAAAATAAATTAAAGAAAAATAATATCTGGATGTTGCATAGTTCTAGTTTTGGGGACCCATAAATGTTTTCCTTTTAATCCTTACTA... |
Task1_train_623 | The gene ARID1A (AT-rich interaction domain 1A) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Coffin-Siris syndrome | AGATTTCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAGAAAATCTGGGTGTTAGCTGGACATGGTGGTGCATGCCTCATAGTCTTAGGCACTCAGGAGGCTGAGGAAGGCAGATTGTTTGAGCTCAGGAGATTAAGGCTGCAGTAAGCTATGATCACACCACTGCATTCCAGCCAGGGTGCCAGAGCAATACCCTGTCTCAAGAAAATAAATTAAAGAAAAATAATATCTGGATGTTGCATAGTTCTAGTTTTGGGGACCCATAAATGTTTTCCTTTTAATCCTTACTAGAT... | AGATTTCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAGAAAATCTGGGTGTTAGCTGGACATGGTGGTGCATGCCTCATAGTCTTAGGCACTCAGGAGGCTGAGGAAGGCAGATTGTTTGAGCTCAGGAGATTAAGGCTGCAGTAAGCTATGATCACACCACTGCATTCCAGCCAGGGTGCCAGAGCAATACCCTGTCTCAAGAAAATAAATTAAAGAAAAATAATATCTGGATGTTGCATAGTTCTAGTTTTGGGGACCCATAAATGTTTTCCTTTTAATCCTTACTAGAT... |
Task1_train_624 | A variant has been detected on Chromosome 1 in ARID1A (AT-rich interaction domain 1A). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | AGGCTGAGGAAGGCAGATTGTTTGAGCTCAGGAGATTAAGGCTGCAGTAAGCTATGATCACACCACTGCATTCCAGCCAGGGTGCCAGAGCAATACCCTGTCTCAAGAAAATAAATTAAAGAAAAATAATATCTGGATGTTGCATAGTTCTAGTTTTGGGGACCCATAAATGTTTTCCTTTTAATCCTTACTAGATGATCACACAGCACTATTTGGCTCCAGTTCAAATCTAAAAGCTCAGAGTCTAACCTTTGTCTCTCTCACTTTCCATCTTCTTCCTTAGGCCGCCAGGCTACCCCAATATGAATCAAGGGGGCATG... | AGGCTGAGGAAGGCAGATTGTTTGAGCTCAGGAGATTAAGGCTGCAGTAAGCTATGATCACACCACTGCATTCCAGCCAGGGTGCCAGAGCAATACCCTGTCTCAAGAAAATAAATTAAAGAAAAATAATATCTGGATGTTGCATAGTTCTAGTTTTGGGGACCCATAAATGTTTTCCTTTTAATCCTTACTAGATGATCACACAGCACTATTTGGCTCCAGTTCAAATCTAAAAGCTCAGAGTCTAACCTTTGTCTCTCTCACTTTCCATCTTCTTCCTTAGGCCGCCAGGCTACCCCAATATGAATCAAGGGGGCATG... |
Task1_train_625 | Here’s a variant in PIGV (phosphatidylinositol glycan anchor biosynthesis class V) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hyperphosphatasia with intellectual disability syndrome 1 | ATCCTTGACGGTTTTGGCTCCTGGTTCACTGTCACTCTTCCCAGCACTACTTCTATTGATTTCCTGGTGATTTCATTATTAATGAAGATGATGTGTGCAGTGTCCTGAAAAGAGTCTATCACTTGAGTGTGAGTTCTGGGGAAAGGGTGTTAGAGATTTGAGGAAAGAGAAAAACATGTAACATGTAACAAATTGTTTTCCTAAATGACAACTCAGAACAATAGAAGGCATTAGAAGAGACCTTCCATATGCGCCCATCACATTCTTCAGCCTACCTATGTCTGCACCTTTGTGCTTTCAGTACTGAAGGTTGGATGAAC... | ATCCTTGACGGTTTTGGCTCCTGGTTCACTGTCACTCTTCCCAGCACTACTTCTATTGATTTCCTGGTGATTTCATTATTAATGAAGATGATGTGTGCAGTGTCCTGAAAAGAGTCTATCACTTGAGTGTGAGTTCTGGGGAAAGGGTGTTAGAGATTTGAGGAAAGAGAAAAACATGTAACATGTAACAAATTGTTTTCCTAAATGACAACTCAGAACAATAGAAGGCATTAGAAGAGACCTTCCATATGCGCCCATCACATTCTTCAGCCTACCTATGTCTGCACCTTTGTGCTTTCAGTACTGAAGGTTGGATGAAC... |
Task1_train_626 | The following genetic variant occurs in PIGV (phosphatidylinositol glycan anchor biosynthesis class V) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hyperphosphatasia with intellectual disability syndrome 1 | ATCACATTCTTCAGCCTACCTATGTCTGCACCTTTGTGCTTTCAGTACTGAAGGTTGGATGAACCGTCTGTCCTCTTCTCTAAGGCTGGCTCCTCTACCTTTGTACCCTTTTTGCCTACCCAGCAATTCTCCCCTCTCTCCTGCATACCCTTTTACTGGGTTATTTCCACTAGCATACAAACCTTTACCTCCCACCTTAAAAAAAGTTTTCACTTTACCCCACATTGTTGTTCACCTACTGCCCCATTTTTCTGCTTCCCCTTATGGCAAAACTCCTCAAAGTTTCTTTTCTCCCATTCTCTGTTGAACCCAGTCTAGGT... | ATCACATTCTTCAGCCTACCTATGTCTGCACCTTTGTGCTTTCAGTACTGAAGGTTGGATGAACCGTCTGTCCTCTTCTCTAAGGCTGGCTCCTCTACCTTTGTACCCTTTTTGCCTACCCAGCAATTCTCCCCTCTCTCCTGCATACCCTTTTACTGGGTTATTTCCACTAGCATACAAACCTTTACCTCCCACCTTAAAAAAAGTTTTCACTTTACCCCACATTGTTGTTCACCTACTGCCCCATTTTTCTGCTTCCCCTTATGGCAAAACTCCTCAAAGTTTCTTTTCTCCCATTCTCTGTTGAACCCAGTCTAGGT... |
Task1_train_627 | Here is a genetic alteration in PIGV (phosphatidylinositol glycan anchor biosynthesis class V) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hyperphosphatasia with intellectual disability syndrome 1 | CCTCTCTCCTGCATACCCTTTTACTGGGTTATTTCCACTAGCATACAAACCTTTACCTCCCACCTTAAAAAAAGTTTTCACTTTACCCCACATTGTTGTTCACCTACTGCCCCATTTTTCTGCTTCCCCTTATGGCAAAACTCCTCAAAGTTTCTTTTCTCCCATTCTCTGTTGAACCCAGTCTAGGTAGACTTCTCTCTCTTCCACTCCATTGAAATAGCCCTTGTCAAAGTCACCAGTTACTTTCACATTGTTAAATCCAGTGGTCAGTTTTCAGCCCCCATCTTACTTGACCTACCAGCAGCATTTAACAGAGTTGA... | CCTCTCTCCTGCATACCCTTTTACTGGGTTATTTCCACTAGCATACAAACCTTTACCTCCCACCTTAAAAAAAGTTTTCACTTTACCCCACATTGTTGTTCACCTACTGCCCCATTTTTCTGCTTCCCCTTATGGCAAAACTCCTCAAAGTTTCTTTTCTCCCATTCTCTGTTGAACCCAGTCTAGGTAGACTTCTCTCTCTTCCACTCCATTGAAATAGCCCTTGTCAAAGTCACCAGTTACTTTCACATTGTTAAATCCAGTGGTCAGTTTTCAGCCCCCATCTTACTTGACCTACCAGCAGCATTTAACAGAGTTGA... |
Task1_train_628 | An alteration has been detected in KDF1 (keratinocyte differentiation factor 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type | ACTGTGGTCATGTTAAGATACAGAACATCAGCCAAGAACCAGAACCAACTCCTTAACATAACATAGAGTGGGCCCTGCCCACCCCCCAATACAATACATTTAAGATAAGCTTCTTTTAACTGTTGAATTACCCCAGGGAGGGAGAAGTTTGCATGATTGGTTAGGGTGGCAATAGGGGGATGGAGTCAGGGTTCACTCCCAGAAGGTAATGCCTAACTCCTTACTTTCCATGATCAGGCCACCTGAAGACCATGAGCAGGAAGGAAGGGGCCCTGGCAGGGATCAGACCAGCTGGGGATGCAAGGAGATGTAGATCCCAT... | ACTGTGGTCATGTTAAGATACAGAACATCAGCCAAGAACCAGAACCAACTCCTTAACATAACATAGAGTGGGCCCTGCCCACCCCCCAATACAATACATTTAAGATAAGCTTCTTTTAACTGTTGAATTACCCCAGGGAGGGAGAAGTTTGCATGATTGGTTAGGGTGGCAATAGGGGGATGGAGTCAGGGTTCACTCCCAGAAGGTAATGCCTAACTCCTTACTTTCCATGATCAGGCCACCTGAAGACCATGAGCAGGAAGGAAGGGGCCCTGGCAGGGATCAGACCAGCTGGGGATGCAAGGAGATGTAGATCCCAT... |
Task1_train_629 | Given this context: Chromosome 1, gene SLC9A1 (solute carrier family 9 member A1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | CCCAGCCCTGGCCCTCACCCAGCACGCGGGCGATGAGGCAGAAGAGCAGGGTGCTGATGACGAAGGTCCAGTTCCAGTGGTGGGAGCCGGCCACCGTGGAGACGCCGAGGAAGATGAAGATGAGGGTCTCGCTGACGCTGCTCCACATCTTCAGGAAGTATTTGATGGTGGTGTGGGACTTGTGGGAGATGTTGGCCTCCACATAGGGGCGCATCACCACTCCTGAGGCTATGAGCCTGGAGCAGGAAAGAGCGGGGTCAGGGCTCCGTGTCGAGCTGCACCTGCTCGAGCCCCTCCACTGCCAGGGGCAATGGGGCCAC... | CCCAGCCCTGGCCCTCACCCAGCACGCGGGCGATGAGGCAGAAGAGCAGGGTGCTGATGACGAAGGTCCAGTTCCAGTGGTGGGAGCCGGCCACCGTGGAGACGCCGAGGAAGATGAAGATGAGGGTCTCGCTGACGCTGCTCCACATCTTCAGGAAGTATTTGATGGTGGTGTGGGACTTGTGGGAGATGTTGGCCTCCACATAGGGGCGCATCACCACTCCTGAGGCTATGAGCCTGGAGCAGGAAAGAGCGGGGTCAGGGCTCCGTGTCGAGCTGCACCTGCTCGAGCCCCTCCACTGCCAGGGGCAATGGGGCCAC... |
Task1_train_630 | This variant affects the gene TMEM222 (transmembrane protein 222) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities | GTACCACTTTCTTGCTCTGCAGTGTTGTTTTCTGCCTGTTGATGTTGTGTCCTTTCACAGGTCAAGGTTAAAAGTCACCTCCTCTGTGAAGTCTTTACTGGCTCCACCCCAGCCCCCTGTAACTGCTTTTTTAAACTGCGTCTCTGGAGGCTTGGCCTGCACCCCTAGCCAGGTGCTTTATGCTCGTGCCCAGGCAGCATTGAGGCCAGGACTCGGCCACTGGCCCTGTGAGTTCTCCTTAAACTGGATCAGTCTCTCCAGCACCCAGGTCCTGTAGGGCCATGGTTCTCAGAACACAGACAGGTCTGGGGTTCCTATGT... | GTACCACTTTCTTGCTCTGCAGTGTTGTTTTCTGCCTGTTGATGTTGTGTCCTTTCACAGGTCAAGGTTAAAAGTCACCTCCTCTGTGAAGTCTTTACTGGCTCCACCCCAGCCCCCTGTAACTGCTTTTTTAAACTGCGTCTCTGGAGGCTTGGCCTGCACCCCTAGCCAGGTGCTTTATGCTCGTGCCCAGGCAGCATTGAGGCCAGGACTCGGCCACTGGCCCTGTGAGTTCTCCTTAAACTGGATCAGTCTCTCCAGCACCCAGGTCCTGTAGGGCCATGGTTCTCAGAACACAGACAGGTCTGGGGTTCCTATGT... |
Task1_train_631 | This genomic variant is located on Chromosome 1, within the EPB41 (erythrocyte membrane protein band 4.1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Elliptocytosis 1 | GCCTGTAAATCCAGCACTCTGGGAGACTGAGGCAGGAGGATCACTAGAGCCCCGGAGTTCGAGACCAACCTGGGCAACATGGAGAAACACCATCTCTACAAAAAAGTAAAAAACTAGCTAGGCATGGTGGCTCTCCTGTAGTCCCAGCTACTTGGGATGTTGAGGTGGGAGGATCACTTGAGTCTGAGAGGTCGAGGCTGCATTGAGCCATGATTATGTCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAGCAAAAAAAACAAATCGTGGATTCTGAAGCCAGACTGGTATG... | GCCTGTAAATCCAGCACTCTGGGAGACTGAGGCAGGAGGATCACTAGAGCCCCGGAGTTCGAGACCAACCTGGGCAACATGGAGAAACACCATCTCTACAAAAAAGTAAAAAACTAGCTAGGCATGGTGGCTCTCCTGTAGTCCCAGCTACTTGGGATGTTGAGGTGGGAGGATCACTTGAGTCTGAGAGGTCGAGGCTGCATTGAGCCATGATTATGTCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAGCAAAAAAAACAAATCGTGGATTCTGAAGCCAGACTGGTATG... |
Task1_train_632 | This variant affects the gene EPB41 (erythrocyte membrane protein band 4.1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Elliptocytosis 1 | GCCTGTAAATCCAGCACTCTGGGAGACTGAGGCAGGAGGATCACTAGAGCCCCGGAGTTCGAGACCAACCTGGGCAACATGGAGAAACACCATCTCTACAAAAAAGTAAAAAACTAGCTAGGCATGGTGGCTCTCCTGTAGTCCCAGCTACTTGGGATGTTGAGGTGGGAGGATCACTTGAGTCTGAGAGGTCGAGGCTGCATTGAGCCATGATTATGTCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAGCAAAAAAAACAAATCGTGGATTCTGAAGCCAGACTGGTATG... | GCCTGTAAATCCAGCACTCTGGGAGACTGAGGCAGGAGGATCACTAGAGCCCCGGAGTTCGAGACCAACCTGGGCAACATGGAGAAACACCATCTCTACAAAAAAGTAAAAAACTAGCTAGGCATGGTGGCTCTCCTGTAGTCCCAGCTACTTGGGATGTTGAGGTGGGAGGATCACTTGAGTCTGAGAGGTCGAGGCTGCATTGAGCCATGATTATGTCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAGCAAAAAAAACAAATCGTGGATTCTGAAGCCAGACTGGTATG... |
Task1_train_633 | Gene MECR (mitochondrial trans-2-enoyl-CoA reductase), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | CCCCAACTGAGGGGCCTGCACCCAGCCCCTCAGATCCGCCTCCCCTCCCATGTCACTCCAGCTCTTTTGGGATGATCACATGGTGAGAATCTGCTTTGAAGATATGAAGGGCTTCATGGAGGCTTCCAAGGCAGACTGGTAGTCCTGCAGCGGGACCTGGGAGCAGGCAGGGGCTGTGAGCTGGCCTCGGCGGATGAGATCGCACAGTGTGAGGATCAGCTCCTTGAACTGGTCTGCGGGAGGTTGGAGGAAATCAGACAAGAGAACAGCAGCTGGGGCTTGGTGAGATGTGGCACGGGGCTGCCCTATGGGCAGGAGCT... | CCCCAACTGAGGGGCCTGCACCCAGCCCCTCAGATCCGCCTCCCCTCCCATGTCACTCCAGCTCTTTTGGGATGATCACATGGTGAGAATCTGCTTTGAAGATATGAAGGGCTTCATGGAGGCTTCCAAGGCAGACTGGTAGTCCTGCAGCGGGACCTGGGAGCAGGCAGGGGCTGTGAGCTGGCCTCGGCGGATGAGATCGCACAGTGTGAGGATCAGCTCCTTGAACTGGTCTGCGGGAGGTTGGAGGAAATCAGACAAGAGAACAGCAGCTGGGGCTTGGTGAGATGTGGCACGGGGCTGCCCTATGGGCAGGAGCT... |
Task1_train_634 | This alteration occurs within gene MECR (mitochondrial trans-2-enoyl-CoA reductase) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Optic atrophy 16 | TGAAGCGGTGTGCTCAAATGTGGGGTCAAGCCTGGCTCTCCTGCTGCCTAGACTTTGGGACAGGTACTTGACCTCTTTGGGCCTTGTTTTTTTTTGTTTGTTTGTTTTTGAGACACACTGTTTCTCTGAAGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGATGGTCTCGAATTTTTG... | TGAAGCGGTGTGCTCAAATGTGGGGTCAAGCCTGGCTCTCCTGCTGCCTAGACTTTGGGACAGGTACTTGACCTCTTTGGGCCTTGTTTTTTTTTGTTTGTTTGTTTTTGAGACACACTGTTTCTCTGAAGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGATGGTCTCGAATTTTTG... |
Task1_train_635 | Consider this mutation in MECR (mitochondrial trans-2-enoyl-CoA reductase) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | TGAAGCGGTGTGCTCAAATGTGGGGTCAAGCCTGGCTCTCCTGCTGCCTAGACTTTGGGACAGGTACTTGACCTCTTTGGGCCTTGTTTTTTTTTGTTTGTTTGTTTTTGAGACACACTGTTTCTCTGAAGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGATGGTCTCGAATTTTTG... | TGAAGCGGTGTGCTCAAATGTGGGGTCAAGCCTGGCTCTCCTGCTGCCTAGACTTTGGGACAGGTACTTGACCTCTTTGGGCCTTGTTTTTTTTTGTTTGTTTGTTTTTGAGACACACTGTTTCTCTGAAGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGATGGTCTCGAATTTTTG... |
Task1_train_636 | This variant lies on Chromosome 1 and affects the gene MECR (mitochondrial trans-2-enoyl-CoA reductase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | TGAAGCGGTGTGCTCAAATGTGGGGTCAAGCCTGGCTCTCCTGCTGCCTAGACTTTGGGACAGGTACTTGACCTCTTTGGGCCTTGTTTTTTTTTGTTTGTTTGTTTTTGAGACACACTGTTTCTCTGAAGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGATGGTCTCGAATTTTTG... | TGAAGCGGTGTGCTCAAATGTGGGGTCAAGCCTGGCTCTCCTGCTGCCTAGACTTTGGGACAGGTACTTGACCTCTTTGGGCCTTGTTTTTTTTTGTTTGTTTGTTTTTGAGACACACTGTTTCTCTGAAGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGATGGTCTCGAATTTTTG... |
Task1_train_637 | This genomic variant is located on Chromosome 1, within the LCK (LCK proto-oncogene, Src family tyrosine kinase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Severe combined immunodeficiency due to LCK deficiency | GGCTCACCAGAAATAATACAGAGTATTCATCAAGGCCTCTAGAGTCTGACTGCCTGGGTCAGAAGCCTGGCTTCATGATTTTATGGCTTTGTGATAATTATATCACCTCTTTCTGCCATGGTTTCCTACTATAATAACGCGTTAGTAACTTCCTCACAGGGTCTTGTGAGGATGAAATAATTAATGCATACAGAGCAGTTAGAACTATGCCTACTTCCAGGTGCTGTGGCTCAAGCCTATAACTCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCCCAGAAGTTCAAGACCAGTCTGTGCAACATAGCGAG... | GGCTCACCAGAAATAATACAGAGTATTCATCAAGGCCTCTAGAGTCTGACTGCCTGGGTCAGAAGCCTGGCTTCATGATTTTATGGCTTTGTGATAATTATATCACCTCTTTCTGCCATGGTTTCCTACTATAATAACGCGTTAGTAACTTCCTCACAGGGTCTTGTGAGGATGAAATAATTAATGCATACAGAGCAGTTAGAACTATGCCTACTTCCAGGTGCTGTGGCTCAAGCCTATAACTCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCCCAGAAGTTCAAGACCAGTCTGTGCAACATAGCGAG... |
Task1_train_638 | Gene YARS1 (tyrosyl-tRNA synthetase 1) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | CAAGGATGGGAAGCCACAGGTGCATTTTACTCAAGTCTTCTCTAGTCAATGAGGGGCACCCAGTGCTTCTAGGGCAGGCTGGGTGGTGGTCCCCTAGGTATCAGCCTCTCTTACTGTACTCTCCGGGAATGTTAACCTTTCTATTTTCAGCCTGTGCCACCTGTCTAGGCAAGCTGGCTTCCCCATTGGCCCCTGTGGGTCCACAGCAGCGTGGCTGCCCCCCAGGGCCACCGCTTCTTTCTTGATCCTCTTTCCTTAACAGTGACTTGGGCTTGAGTCTGGCAAGGAACCTTGCTTTTAGCTTCACCACCAAGGAGAGA... | CAAGGATGGGAAGCCACAGGTGCATTTTACTCAAGTCTTCTCTAGTCAATGAGGGGCACCCAGTGCTTCTAGGGCAGGCTGGGTGGTGGTCCCCTAGGTATCAGCCTCTCTTACTGTACTCTCCGGGAATGTTAACCTTTCTATTTTCAGCCTGTGCCACCTGTCTAGGCAAGCTGGCTTCCCCATTGGCCCCTGTGGGTCCACAGCAGCGTGGCTGCCCCCCAGGGCCACCGCTTCTTTCTTGATCCTCTTTCCTTAACAGTGACTTGGGCTTGAGTCTGGCAAGGAACCTTGCTTTTAGCTTCACCACCAAGGAGAGA... |
Task1_train_639 | The gene YARS1 (tyrosyl-tRNA synthetase 1) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | TTATTAGTGGAAACATAATTTAGCAAACTCCAAACTGTTAGATTCTATCCTAATTTTTACAAATTATATATAATGCTACATTGGACATCTTTGCAGTCTTTTCCCTTCTCTAGAATCATTTCCTTAAGATGCCGAAAATTGCTAGGTTCAAAATTGTTTTTTGAAAGGTATCCTAATCAACATTGCTGTCGACAATGTGTGAGGATACTTGTTCACAGCAATCAGCCACACTAAGTATTATATATTATCTACAGCCATTTTTCCTTTTTAGGTAATAGGCTTTGTTTCTTATTTGGAAAGAGTGAGTTCATGGTCATTTG... | TTATTAGTGGAAACATAATTTAGCAAACTCCAAACTGTTAGATTCTATCCTAATTTTTACAAATTATATATAATGCTACATTGGACATCTTTGCAGTCTTTTCCCTTCTCTAGAATCATTTCCTTAAGATGCCGAAAATTGCTAGGTTCAAAATTGTTTTTTGAAAGGTATCCTAATCAACATTGCTGTCGACAATGTGTGAGGATACTTGTTCACAGCAATCAGCCACACTAAGTATTATATATTATCTACAGCCATTTTTCCTTTTTAGGTAATAGGCTTTGTTTCTTATTTGGAAAGAGTGAGTTCATGGTCATTTG... |
Task1_train_640 | A change on Chromosome 1 affects gene YARS1 (tyrosyl-tRNA synthetase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate C | TGCTGGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCATGGGTGACAAAGCGAGACTCCCTCTCAAAAAAAAAAAAAAAAGATTTTAGGCTTTATGGGCCACATATGCTCTTTACTGCTTATTCTTCATCTTTTTTCACAATCCTTAAACAATGTAAAAACCATTCTTAGCTCATGAGTCATACAAAAACAAGGTATGGGCCAAATCCCTGCTTTAATAATAAAAGGAGGTCCAACTAAAAAGTTAATCAAGCAGATACAATGAAATAATAGGCCAGGTGCAGTGGCTCATGCTTGTA... | TGCTGGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCATGGGTGACAAAGCGAGACTCCCTCTCAAAAAAAAAAAAAAAAGATTTTAGGCTTTATGGGCCACATATGCTCTTTACTGCTTATTCTTCATCTTTTTTCACAATCCTTAAACAATGTAAAAACCATTCTTAGCTCATGAGTCATACAAAAACAAGGTATGGGCCAAATCCCTGCTTTAATAATAAAAGGAGGTCCAACTAAAAAGTTAATCAAGCAGATACAATGAAATAATAGGCCAGGTGCAGTGGCTCATGCTTGTA... |
Task1_train_641 | A variant was discovered on Chromosome 1, affecting YARS1 (tyrosyl-tRNA synthetase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | TGCTGGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCATGGGTGACAAAGCGAGACTCCCTCTCAAAAAAAAAAAAAAAAGATTTTAGGCTTTATGGGCCACATATGCTCTTTACTGCTTATTCTTCATCTTTTTTCACAATCCTTAAACAATGTAAAAACCATTCTTAGCTCATGAGTCATACAAAAACAAGGTATGGGCCAAATCCCTGCTTTAATAATAAAAGGAGGTCCAACTAAAAAGTTAATCAAGCAGATACAATGAAATAATAGGCCAGGTGCAGTGGCTCATGCTTGTA... | TGCTGGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCATGGGTGACAAAGCGAGACTCCCTCTCAAAAAAAAAAAAAAAAGATTTTAGGCTTTATGGGCCACATATGCTCTTTACTGCTTATTCTTCATCTTTTTTCACAATCCTTAAACAATGTAAAAACCATTCTTAGCTCATGAGTCATACAAAAACAAGGTATGGGCCAAATCCCTGCTTTAATAATAAAAGGAGGTCCAACTAAAAAGTTAATCAAGCAGATACAATGAAATAATAGGCCAGGTGCAGTGGCTCATGCTTGTA... |
Task1_train_642 | Given this context: Chromosome 1, gene YARS1 (tyrosyl-tRNA synthetase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate C | ATCTAGAACAGTGCTTATCATATACCAGGGGTTCCATAAAGATCTGTAGATTAAGTGTAAAAATGAATAAAATTTCAGGTACTCTACGAAGGCTGTAGATTCAAAGATGTTCATATGCTTTATTTATTCATTTCTTTTTCTTTCTTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTCCACTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCCGTGATTACAGGTGTATGCCACCACGCCCAGGTAAATTTTTGTATTT... | ATCTAGAACAGTGCTTATCATATACCAGGGGTTCCATAAAGATCTGTAGATTAAGTGTAAAAATGAATAAAATTTCAGGTACTCTACGAAGGCTGTAGATTCAAAGATGTTCATATGCTTTATTTATTCATTTCTTTTTCTTTCTTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTCCACTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCCGTGATTACAGGTGTATGCCACCACGCCCAGGTAAATTTTTGTATTT... |
Task1_train_643 | Gene HPCA (hippocalcin) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Torsion dystonia 2 | CCTTCTCATTTCCTTAGCCCTTTCCCACTCACTTGTCCGGTGGGTCCTTAGCCTGGGCCATAAGAGGCTGGTCTAGAAAGGAGGGGCACCAACTTACAGAAACATGCATGTGACACACCGCCGAGGACACACACGGGTCCTCCAAATGGCCACACGGGCTCATTCCCTCACGCTGTGACGGGTGCATACCTGATCACATGCACATCTGAGGCACATGCAGGGACATAGATGGAAAGACACGGCAGGCAAATGCAATGCAAAAACCAGCGGCACACATCATGCATGAGCACATGCACTCACAACACACCCATTCACATGTG... | CCTTCTCATTTCCTTAGCCCTTTCCCACTCACTTGTCCGGTGGGTCCTTAGCCTGGGCCATAAGAGGCTGGTCTAGAAAGGAGGGGCACCAACTTACAGAAACATGCATGTGACACACCGCCGAGGACACACACGGGTCCTCCAAATGGCCACACGGGCTCATTCCCTCACGCTGTGACGGGTGCATACCTGATCACATGCACATCTGAGGCACATGCAGGGACATAGATGGAAAGACACGGCAGGCAAATGCAATGCAAAAACCAGCGGCACACATCATGCATGAGCACATGCACTCACAACACACCCATTCACATGTG... |
Task1_train_644 | This alteration in HPCA (hippocalcin) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Torsion dystonia 2 | TTAGCCCTTTCCCACTCACTTGTCCGGTGGGTCCTTAGCCTGGGCCATAAGAGGCTGGTCTAGAAAGGAGGGGCACCAACTTACAGAAACATGCATGTGACACACCGCCGAGGACACACACGGGTCCTCCAAATGGCCACACGGGCTCATTCCCTCACGCTGTGACGGGTGCATACCTGATCACATGCACATCTGAGGCACATGCAGGGACATAGATGGAAAGACACGGCAGGCAAATGCAATGCAAAAACCAGCGGCACACATCATGCATGAGCACATGCACTCACAACACACCCATTCACATGTGTGCAGAGCTTCAT... | TTAGCCCTTTCCCACTCACTTGTCCGGTGGGTCCTTAGCCTGGGCCATAAGAGGCTGGTCTAGAAAGGAGGGGCACCAACTTACAGAAACATGCATGTGACACACCGCCGAGGACACACACGGGTCCTCCAAATGGCCACACGGGCTCATTCCCTCACGCTGTGACGGGTGCATACCTGATCACATGCACATCTGAGGCACATGCAGGGACATAGATGGAAAGACACGGCAGGCAAATGCAATGCAAAAACCAGCGGCACACATCATGCATGAGCACATGCACTCACAACACACCCATTCACATGTGTGCAGAGCTTCAT... |
Task1_train_645 | A mutation in AK2 (adenylate kinase 2), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Reticular dysgenesis | CTGGACTTCTAATCAGCTGCTGGAAATGGAAGAAATACTATGAGGTTCTGGAATTGCGGTCCCTGGAAGATTACCTGGGTTAGTTCATTTTGGTCAAAAAATAAAATCAAAAGTATGGTTAAAGAAGTAAACAGCTGGGCTGGGTGTAGTGGCTCACGTCTGTGATCCTGGCACTTCAGGAGGCCAAGGTGGGTGGATTGCTTAAGCCTAGGAGTTCAAGACCAGCCTGGGCAACTTGGCAAAATCCTGTCTCTACAAAAAATACAAATATCAGCCAGGTGTTGTGGCATGCACCTGTAGTCCCAGCTGCTCAGGAGGCT... | CTGGACTTCTAATCAGCTGCTGGAAATGGAAGAAATACTATGAGGTTCTGGAATTGCGGTCCCTGGAAGATTACCTGGGTTAGTTCATTTTGGTCAAAAAATAAAATCAAAAGTATGGTTAAAGAAGTAAACAGCTGGGCTGGGTGTAGTGGCTCACGTCTGTGATCCTGGCACTTCAGGAGGCCAAGGTGGGTGGATTGCTTAAGCCTAGGAGTTCAAGACCAGCCTGGGCAACTTGGCAAAATCCTGTCTCTACAAAAAATACAAATATCAGCCAGGTGTTGTGGCATGCACCTGTAGTCCCAGCTGCTCAGGAGGCT... |
Task1_train_646 | With a mutation on Chromosome 1 in gene AK2, LOC129930068 (adenylate kinase 2| ATAC-STARR-seq lymphoblastoid active region 705), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Reticular dysgenesis | GGCTTGTGCCTATAATCCCTGCACTTTGGGAGGTCAAGGCAGGATGATCGCCTGTGTCCAGGAGTTCAATACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAATTGTTTAAAAATTAGCTGGGCATGGTAGCATGTGCCTGTACTCCCAGCTACCTGGGAGGGTGAGGTGGGAGGATTGCTTGAGCTCACACCACTGCGCTCCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAGAAAAAGAAAAAGAAAAACAATGAAGCATTTGAGCTACTGTTTATACTTGATCACTCACAGCAAAAGTCT... | GGCTTGTGCCTATAATCCCTGCACTTTGGGAGGTCAAGGCAGGATGATCGCCTGTGTCCAGGAGTTCAATACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAATTGTTTAAAAATTAGCTGGGCATGGTAGCATGTGCCTGTACTCCCAGCTACCTGGGAGGGTGAGGTGGGAGGATTGCTTGAGCTCACACCACTGCGCTCCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAGAAAAAGAAAAAGAAAAACAATGAAGCATTTGAGCTACTGTTTATACTTGATCACTCACAGCAAAAGTCT... |
Task1_train_647 | This mutation is located in gene GJB4 (gap junction protein beta 4) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Erythrokeratodermia variabilis et progressiva 2 | ATTTCCTACACAATCCAAGAGCTTCCAGACTCCAGTCCCAGAAATATCCCACCACCAGAATGGGATGCGTTCCTGCACTAAATTAAGGTTGCCCCTTTCCGTAGATGTCAGCTGCTGAGACCTCAGTATCAGGCTTCCCAGGAAAAGGGCAGGAGAGAGGGCAAGGAGGCAGGGTAAGGAGGCAATGGGAAGGGGACAGGGTCAATCCCACTGGTGCTGTCCTAGGCCTAGGCATAATGATATCAGGCTCCTGAACCCCACACAGCAGTCTCACCCACATACCTGCCTGCCTGGGAGCCAGGCTCAGCCATACCCAGCCA... | ATTTCCTACACAATCCAAGAGCTTCCAGACTCCAGTCCCAGAAATATCCCACCACCAGAATGGGATGCGTTCCTGCACTAAATTAAGGTTGCCCCTTTCCGTAGATGTCAGCTGCTGAGACCTCAGTATCAGGCTTCCCAGGAAAAGGGCAGGAGAGAGGGCAAGGAGGCAGGGTAAGGAGGCAATGGGAAGGGGACAGGGTCAATCCCACTGGTGCTGTCCTAGGCCTAGGCATAATGATATCAGGCTCCTGAACCCCACACAGCAGTCTCACCCACATACCTGCCTGCCTGGGAGCCAGGCTCAGCCATACCCAGCCA... |
Task1_train_648 | The gene GJB4 (gap junction protein beta 4) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | GTCCTAGGCCTAGGCATAATGATATCAGGCTCCTGAACCCCACACAGCAGTCTCACCCACATACCTGCCTGCCTGGGAGCCAGGCTCAGCCATACCCAGCCAGGCTAGAGAGGAGGCGTGGGCCAGGAGAGAAGAGCCGCAGGTGTTTGCTCTGAGTATGTGCCCGGGGAAGTCCGCCCTCCTGCCTGCCCACCCAATCACTCTCGCTTGGCTCATTGGCCCAGAAAGCCCCACCCAGCAAGGGAGAGAGGAACAAAAGCTGCCTCCGGGAGGTCCTGAGGCAAACAGACAAGCCCAAGGACAAGGAAGCAGCTACTGGA... | GTCCTAGGCCTAGGCATAATGATATCAGGCTCCTGAACCCCACACAGCAGTCTCACCCACATACCTGCCTGCCTGGGAGCCAGGCTCAGCCATACCCAGCCAGGCTAGAGAGGAGGCGTGGGCCAGGAGAGAAGAGCCGCAGGTGTTTGCTCTGAGTATGTGCCCGGGGAAGTCCGCCCTCCTGCCTGCCCACCCAATCACTCTCGCTTGGCTCATTGGCCCAGAAAGCCCCACCCAGCAAGGGAGAGAGGAACAAAAGCTGCCTCCGGGAGGTCCTGAGGCAAACAGACAAGCCCAAGGACAAGGAAGCAGCTACTGGA... |
Task1_train_649 | A variant was discovered in gene GJB4 (gap junction protein beta 4), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | TATGTGCCCGGGGAAGTCCGCCCTCCTGCCTGCCCACCCAATCACTCTCGCTTGGCTCATTGGCCCAGAAAGCCCCACCCAGCAAGGGAGAGAGGAACAAAAGCTGCCTCCGGGAGGTCCTGAGGCAAACAGACAAGCCCAAGGACAAGGAAGCAGCTACTGGACCCAAGAAGGGTGAGGACCGAATAGGGCAGGAGGCTGGCCAGGAAGCAAGCAACCAGCTGAGCTGAGGATATCCAAGGGACCTCAGGCTGTGGGCTGGGCTTCAGGGAGGGAGCCAGAGGGTCAGTGTCCCTAGAGGATCCCCAGGGAAGTGCCAA... | TATGTGCCCGGGGAAGTCCGCCCTCCTGCCTGCCCACCCAATCACTCTCGCTTGGCTCATTGGCCCAGAAAGCCCCACCCAGCAAGGGAGAGAGGAACAAAAGCTGCCTCCGGGAGGTCCTGAGGCAAACAGACAAGCCCAAGGACAAGGAAGCAGCTACTGGACCCAAGAAGGGTGAGGACCGAATAGGGCAGGAGGCTGGCCAGGAAGCAAGCAACCAGCTGAGCTGAGGATATCCAAGGGACCTCAGGCTGTGGGCTGGGCTTCAGGGAGGGAGCCAGAGGGTCAGTGTCCCTAGAGGATCCCCAGGGAAGTGCCAA... |
Task1_train_650 | This variant affects gene GJB4 (gap junction protein beta 4) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Erythrokeratodermia variabilis et progressiva 2 | TGTGCCCGGGGAAGTCCGCCCTCCTGCCTGCCCACCCAATCACTCTCGCTTGGCTCATTGGCCCAGAAAGCCCCACCCAGCAAGGGAGAGAGGAACAAAAGCTGCCTCCGGGAGGTCCTGAGGCAAACAGACAAGCCCAAGGACAAGGAAGCAGCTACTGGACCCAAGAAGGGTGAGGACCGAATAGGGCAGGAGGCTGGCCAGGAAGCAAGCAACCAGCTGAGCTGAGGATATCCAAGGGACCTCAGGCTGTGGGCTGGGCTTCAGGGAGGGAGCCAGAGGGTCAGTGTCCCTAGAGGATCCCCAGGGAAGTGCCAAGG... | TGTGCCCGGGGAAGTCCGCCCTCCTGCCTGCCCACCCAATCACTCTCGCTTGGCTCATTGGCCCAGAAAGCCCCACCCAGCAAGGGAGAGAGGAACAAAAGCTGCCTCCGGGAGGTCCTGAGGCAAACAGACAAGCCCAAGGACAAGGAAGCAGCTACTGGACCCAAGAAGGGTGAGGACCGAATAGGGCAGGAGGCTGGCCAGGAAGCAAGCAACCAGCTGAGCTGAGGATATCCAAGGGACCTCAGGCTGTGGGCTGGGCTTCAGGGAGGGAGCCAGAGGGTCAGTGTCCCTAGAGGATCCCCAGGGAAGTGCCAAGG... |
Task1_train_651 | This variant affects the gene GJB4 (gap junction protein beta 4) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Erythrokeratodermia variabilis et progressiva 2 | TACTGGACCCAAGAAGGGTGAGGACCGAATAGGGCAGGAGGCTGGCCAGGAAGCAAGCAACCAGCTGAGCTGAGGATATCCAAGGGACCTCAGGCTGTGGGCTGGGCTTCAGGGAGGGAGCCAGAGGGTCAGTGTCCCTAGAGGATCCCCAGGGAAGTGCCAAGGAGGAGAAGGAATGTCCTGGCTGACCTAAGGGACGACAGAAGATTGGGGAAGAGGGGGTATCAGGAAGAAATGGGTTTCAGTTCAGTTTAACAAACATCTATTGTGTGTTCACTGGGCCAGGCCAGTGCTAGGTGCTAGGGAGACAGAGGTGAAGA... | TACTGGACCCAAGAAGGGTGAGGACCGAATAGGGCAGGAGGCTGGCCAGGAAGCAAGCAACCAGCTGAGCTGAGGATATCCAAGGGACCTCAGGCTGTGGGCTGGGCTTCAGGGAGGGAGCCAGAGGGTCAGTGTCCCTAGAGGATCCCCAGGGAAGTGCCAAGGAGGAGAAGGAATGTCCTGGCTGACCTAAGGGACGACAGAAGATTGGGGAAGAGGGGGTATCAGGAAGAAATGGGTTTCAGTTCAGTTTAACAAACATCTATTGTGTGTTCACTGGGCCAGGCCAGTGCTAGGTGCTAGGGAGACAGAGGTGAAGA... |
Task1_train_652 | This mutation is located in gene GJB3 (gap junction protein beta 3) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Erythrokeratodermia variabilis et progressiva 1 | GGAGAGCCAGGTGCTGAGAAGGAACTGTGCTCTCTCCCTCTCTCCAGTGTAGGGAAGTCTTTCCCCCAATCCCCCTGACCAGGCTGCCCCCTGACCAGGATCCTGCCCACCCTCCTGTCCCCTCCCTCCAAGCTGCCTTGCTGAAAACTCAGCATTCATTTGTTTACCCATTCAGCGCTGAGTGCCTACTATGTGCCAAGCACTGGGCACTAAATATAAAGCAGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGT... | GGAGAGCCAGGTGCTGAGAAGGAACTGTGCTCTCTCCCTCTCTCCAGTGTAGGGAAGTCTTTCCCCCAATCCCCCTGACCAGGCTGCCCCCTGACCAGGATCCTGCCCACCCTCCTGTCCCCTCCCTCCAAGCTGCCTTGCTGAAAACTCAGCATTCATTTGTTTACCCATTCAGCGCTGAGTGCCTACTATGTGCCAAGCACTGGGCACTAAATATAAAGCAGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGT... |
Task1_train_653 | This mutation occurs in GJB3 (gap junction protein beta 3) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | GAGAGCCAGGTGCTGAGAAGGAACTGTGCTCTCTCCCTCTCTCCAGTGTAGGGAAGTCTTTCCCCCAATCCCCCTGACCAGGCTGCCCCCTGACCAGGATCCTGCCCACCCTCCTGTCCCCTCCCTCCAAGCTGCCTTGCTGAAAACTCAGCATTCATTTGTTTACCCATTCAGCGCTGAGTGCCTACTATGTGCCAAGCACTGGGCACTAAATATAAAGCAGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGTG... | GAGAGCCAGGTGCTGAGAAGGAACTGTGCTCTCTCCCTCTCTCCAGTGTAGGGAAGTCTTTCCCCCAATCCCCCTGACCAGGCTGCCCCCTGACCAGGATCCTGCCCACCCTCCTGTCCCCTCCCTCCAAGCTGCCTTGCTGAAAACTCAGCATTCATTTGTTTACCCATTCAGCGCTGAGTGCCTACTATGTGCCAAGCACTGGGCACTAAATATAAAGCAGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGTG... |
Task1_train_654 | Here is a mutation in GJB3 (gap junction protein beta 3) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 2B | AATCCCCCTGACCAGGCTGCCCCCTGACCAGGATCCTGCCCACCCTCCTGTCCCCTCCCTCCAAGCTGCCTTGCTGAAAACTCAGCATTCATTTGTTTACCCATTCAGCGCTGAGTGCCTACTATGTGCCAAGCACTGGGCACTAAATATAAAGCAGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGTGCTATAAAGAAAACAGAGGGGGCTGGAAAAATTAGGTGGGCATAGTGGTGTGCACCTGTGGTCCCAG... | AATCCCCCTGACCAGGCTGCCCCCTGACCAGGATCCTGCCCACCCTCCTGTCCCCTCCCTCCAAGCTGCCTTGCTGAAAACTCAGCATTCATTTGTTTACCCATTCAGCGCTGAGTGCCTACTATGTGCCAAGCACTGGGCACTAAATATAAAGCAGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGTGCTATAAAGAAAACAGAGGGGGCTGGAAAAATTAGGTGGGCATAGTGGTGTGCACCTGTGGTCCCAG... |
Task1_train_655 | Consider this mutation in GJB3 (gap junction protein beta 3) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Erythrokeratodermia variabilis et progressiva 1 | TGACCAGGATCCTGCCCACCCTCCTGTCCCCTCCCTCCAAGCTGCCTTGCTGAAAACTCAGCATTCATTTGTTTACCCATTCAGCGCTGAGTGCCTACTATGTGCCAAGCACTGGGCACTAAATATAAAGCAGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGTGCTATAAAGAAAACAGAGGGGGCTGGAAAAATTAGGTGGGCATAGTGGTGTGCACCTGTGGTCCCAGCTACGTGGGAGGCTGAGGTAGGAG... | TGACCAGGATCCTGCCCACCCTCCTGTCCCCTCCCTCCAAGCTGCCTTGCTGAAAACTCAGCATTCATTTGTTTACCCATTCAGCGCTGAGTGCCTACTATGTGCCAAGCACTGGGCACTAAATATAAAGCAGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGTGCTATAAAGAAAACAGAGGGGGCTGGAAAAATTAGGTGGGCATAGTGGTGTGCACCTGTGGTCCCAGCTACGTGGGAGGCTGAGGTAGGAG... |
Task1_train_656 | A mutation found in GJB3 (gap junction protein beta 3) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Erythrokeratodermia variabilis et progressiva 1 | AGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGTGCTATAAAGAAAACAGAGGGGGCTGGAAAAATTAGGTGGGCATAGTGGTGTGCACCTGTGGTCCCAGCTACGTGGGAGGCTGAGGTAGGAGGCTCCCTTGAGCCTGGGAAGCAGAGGTTGCAGTGAGCCAAGGTCGCACCACTGCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGC... | AGTGAGCAAGACCAAGTTGACATTCTAGAGGGGGAGCCAGATAATTAATAAGACCAAAAAAAAAGGACAAATTCTTTAATTTCAGATAGTGACTAAGTGCTATAAAGAAAACAGAGGGGGCTGGAAAAATTAGGTGGGCATAGTGGTGTGCACCTGTGGTCCCAGCTACGTGGGAGGCTGAGGTAGGAGGCTCCCTTGAGCCTGGGAAGCAGAGGTTGCAGTGAGCCAAGGTCGCACCACTGCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGC... |
Task1_train_657 | A genomic change on Chromosome 1 affects GJB3 (gap junction protein beta 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hearing loss, autosomal recessive | CTACGTGGGAGGCTGAGGTAGGAGGCTCCCTTGAGCCTGGGAAGCAGAGGTTGCAGTGAGCCAAGGTCGCACCACTGCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGCAGGGGCTCTTTCAGACCCAGGGTAATCTGGAGAGGCCTCTAAAGAGATGAGGTTTGAGCAGAGGCCTCTGTGATGAGAAGGATCCACCCATGTGAGGTTCTGGAGGAAGAGCATTCCAGGCAGAAGGAATCAGTAAAAAGCCCCCAAGGCCCTTATTCCAGGGTG... | CTACGTGGGAGGCTGAGGTAGGAGGCTCCCTTGAGCCTGGGAAGCAGAGGTTGCAGTGAGCCAAGGTCGCACCACTGCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGCAGGGGCTCTTTCAGACCCAGGGTAATCTGGAGAGGCCTCTAAAGAGATGAGGTTTGAGCAGAGGCCTCTGTGATGAGAAGGATCCACCCATGTGAGGTTCTGGAGGAAGAGCATTCCAGGCAGAAGGAATCAGTAAAAAGCCCCCAAGGCCCTTATTCCAGGGTG... |
Task1_train_658 | A variant was discovered on Chromosome 1, affecting GJB3 (gap junction protein beta 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Deafness, digenic, GJB2/GJB3 | GCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGCAGGGGCTCTTTCAGACCCAGGGTAATCTGGAGAGGCCTCTAAAGAGATGAGGTTTGAGCAGAGGCCTCTGTGATGAGAAGGATCCACCCATGTGAGGTTCTGGAGGAAGAGCATTCCAGGCAGAAGGAATCAGTAAAAAGCCCCCAAGGCCCTTATTCCAGGGTGGCAGGGTGAAAATGTCGAATCTGGGGTTTTGCTAAGCCTAGCGAGAAGCTAGTAGAGTCTTAAACAAGGGAGTGGC... | GCACTCCAGCCTGGGCGACACAGCAAGGCCTTGGCTCAAAAAAAAAAAAGAAAGGGGACAGGAACAGAGTGACAGAAGCAGGGGCTCTTTCAGACCCAGGGTAATCTGGAGAGGCCTCTAAAGAGATGAGGTTTGAGCAGAGGCCTCTGTGATGAGAAGGATCCACCCATGTGAGGTTCTGGAGGAAGAGCATTCCAGGCAGAAGGAATCAGTAAAAAGCCCCCAAGGCCCTTATTCCAGGGTGGCAGGGTGAAAATGTCGAATCTGGGGTTTTGCTAAGCCTAGCGAGAAGCTAGTAGAGTCTTAAACAAGGGAGTGGC... |
Task1_train_659 | This genomic variant is located on Chromosome 1, within the GJA4 (gap junction protein alpha 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Skin hemangioma | CCCCACACCACCCAGCCACCATTTAGAGGCATAAGAACGGGGTCCAAGCTAAAGGTCAGGTGGTTCCCCCACCCCCAGTCTCAAGGAGTCCATGGGAATTGCTTAATGGCCTCTGATTGTGTAGCCTGCCCAGACATGGGGATGTTTGAGAATTCTGGAAGAACGTGGGCTGGGCGTGGATAGAGACGCCTGCTCCACCATGTATGCTGGAGGTGTGGATTACAACCCCTGTCCCCCATTGGAGCTTCCCGCGCCGTAATTAGCCTTGATCGCCTCATCCTGGCACACTAGGGCCAGCCACCTAGCAAATGAGTGGTCCC... | CCCCACACCACCCAGCCACCATTTAGAGGCATAAGAACGGGGTCCAAGCTAAAGGTCAGGTGGTTCCCCCACCCCCAGTCTCAAGGAGTCCATGGGAATTGCTTAATGGCCTCTGATTGTGTAGCCTGCCCAGACATGGGGATGTTTGAGAATTCTGGAAGAACGTGGGCTGGGCGTGGATAGAGACGCCTGCTCCACCATGTATGCTGGAGGTGTGGATTACAACCCCTGTCCCCCATTGGAGCTTCCCGCGCCGTAATTAGCCTTGATCGCCTCATCCTGGCACACTAGGGCCAGCCACCTAGCAAATGAGTGGTCCC... |
Task1_train_660 | The gene GJA4 (gap junction protein alpha 4) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cutaneous venous malformation | CCCCACACCACCCAGCCACCATTTAGAGGCATAAGAACGGGGTCCAAGCTAAAGGTCAGGTGGTTCCCCCACCCCCAGTCTCAAGGAGTCCATGGGAATTGCTTAATGGCCTCTGATTGTGTAGCCTGCCCAGACATGGGGATGTTTGAGAATTCTGGAAGAACGTGGGCTGGGCGTGGATAGAGACGCCTGCTCCACCATGTATGCTGGAGGTGTGGATTACAACCCCTGTCCCCCATTGGAGCTTCCCGCGCCGTAATTAGCCTTGATCGCCTCATCCTGGCACACTAGGGCCAGCCACCTAGCAAATGAGTGGTCCC... | CCCCACACCACCCAGCCACCATTTAGAGGCATAAGAACGGGGTCCAAGCTAAAGGTCAGGTGGTTCCCCCACCCCCAGTCTCAAGGAGTCCATGGGAATTGCTTAATGGCCTCTGATTGTGTAGCCTGCCCAGACATGGGGATGTTTGAGAATTCTGGAAGAACGTGGGCTGGGCGTGGATAGAGACGCCTGCTCCACCATGTATGCTGGAGGTGTGGATTACAACCCCTGTCCCCCATTGGAGCTTCCCGCGCCGTAATTAGCCTTGATCGCCTCATCCTGGCACACTAGGGCCAGCCACCTAGCAAATGAGTGGTCCC... |
Task1_train_661 | The gene GJA4 (gap junction protein alpha 4) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hepatic hemangioma | CCCCACACCACCCAGCCACCATTTAGAGGCATAAGAACGGGGTCCAAGCTAAAGGTCAGGTGGTTCCCCCACCCCCAGTCTCAAGGAGTCCATGGGAATTGCTTAATGGCCTCTGATTGTGTAGCCTGCCCAGACATGGGGATGTTTGAGAATTCTGGAAGAACGTGGGCTGGGCGTGGATAGAGACGCCTGCTCCACCATGTATGCTGGAGGTGTGGATTACAACCCCTGTCCCCCATTGGAGCTTCCCGCGCCGTAATTAGCCTTGATCGCCTCATCCTGGCACACTAGGGCCAGCCACCTAGCAAATGAGTGGTCCC... | CCCCACACCACCCAGCCACCATTTAGAGGCATAAGAACGGGGTCCAAGCTAAAGGTCAGGTGGTTCCCCCACCCCCAGTCTCAAGGAGTCCATGGGAATTGCTTAATGGCCTCTGATTGTGTAGCCTGCCCAGACATGGGGATGTTTGAGAATTCTGGAAGAACGTGGGCTGGGCGTGGATAGAGACGCCTGCTCCACCATGTATGCTGGAGGTGTGGATTACAACCCCTGTCCCCCATTGGAGCTTCCCGCGCCGTAATTAGCCTTGATCGCCTCATCCTGGCACACTAGGGCCAGCCACCTAGCAAATGAGTGGTCCC... |
Task1_train_662 | Here is a genetic alteration in ADPRS (ADP-ribosylserine hydrolase) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | GACTTCAGTCGGTTCAACAAGGACCGAGCGGAGGCTGAGATGAAGGCAGCCACAGAGCTGAGGGAGGCCACTGCTCTAACTATTGCTGAGGTGACAGGCCACCCACAGCTAATGGATGGTCCCAGTGTGCGCTCAGCCCTTATCTTCTGTTCCCTGCTGTGCATGTGGCCCCCTGCCCCTCGCTTGAGTAATATCCTCAGGCAGCCCTGAGTGTAGACCCTCCCCTTGCCCTGTGTTTTCTCCTTCAGACCAACAACGAGCTTGAAGCCCAGAGAGTTGCAACGGAATTTGCCTTCAGGAAGCGGCTGCGGGAGATGGAG... | GACTTCAGTCGGTTCAACAAGGACCGAGCGGAGGCTGAGATGAAGGCAGCCACAGAGCTGAGGGAGGCCACTGCTCTAACTATTGCTGAGGTGACAGGCCACCCACAGCTAATGGATGGTCCCAGTGTGCGCTCAGCCCTTATCTTCTGTTCCCTGCTGTGCATGTGGCCCCCTGCCCCTCGCTTGAGTAATATCCTCAGGCAGCCCTGAGTGTAGACCCTCCCCTTGCCCTGTGTTTTCTCCTTCAGACCAACAACGAGCTTGAAGCCCAGAGAGTTGCAACGGAATTTGCCTTCAGGAAGCGGCTGCGGGAGATGGAG... |
Task1_train_663 | The gene ADPRS (ADP-ribosylserine hydrolase) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | CGAGGGCACCGGGGCCAGAGCCGGATGACCCGCAGACAGCTTGAGCTCAGCGAGTGCCAGTGCGATCTCCGGCCTTATAGACGTCTCGCCCCGAACATCCCGTGCTCGGGGCGTGGCAGCACCGGGGCCTCAACCGTGCAGGGTGTGGATAAACCCATCGTAAGTTGAAAATACCTGAAGTGGAAAGTGCGCTTTCAGCTTAGACGACCGTTTTATCTGGACGCAGCCCCATCGGACGTCGAGGAGCCTATGAATGCGTATCAGCGTTATCAGAAAGCCGAAAAAAACTTAAGTTGAACCATCCTAAGTCGGGGACTGTC... | CGAGGGCACCGGGGCCAGAGCCGGATGACCCGCAGACAGCTTGAGCTCAGCGAGTGCCAGTGCGATCTCCGGCCTTATAGACGTCTCGCCCCGAACATCCCGTGCTCGGGGCGTGGCAGCACCGGGGCCTCAACCGTGCAGGGTGTGGATAAACCCATCGTAAGTTGAAAATACCTGAAGTGGAAAGTGCGCTTTCAGCTTAGACGACCGTTTTATCTGGACGCAGCCCCATCGGACGTCGAGGAGCCTATGAATGCGTATCAGCGTTATCAGAAAGCCGAAAAAAACTTAAGTTGAACCATCCTAAGTCGGGGACTGTC... |
Task1_train_664 | A mutation on Chromosome 1 affecting COL8A2 (collagen type VIII alpha 2 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Posterior polymorphous corneal dystrophy 2 | GGGTTGGGAGGGGCATCCTGCCTGTTTCCTGCAGAGGAGCTCTGATCGGGGAACAGGGCAGAAACGTCCAGAGCCAACTCATTCCCAAGGGACCTGTTGGCACCCTTTCTCTCCCAGCCTTAGCCTCCTGGGCCCTAGTCCTGCTTAGAACAGGAAATTGGAACCAGAGGGTGGAAGGAGAGGAAGCCCCCACAGATGAACCCCTCTTGTACACACATACACCCACCATATGGTTCTTATTAAGGAAAAGGAAGTGGGAGCCGTCTTCATCCCCCAGCTCGCGTGCACCTTGTTCAGAGGGCCAAACGAGAGGTGCTCTG... | GGGTTGGGAGGGGCATCCTGCCTGTTTCCTGCAGAGGAGCTCTGATCGGGGAACAGGGCAGAAACGTCCAGAGCCAACTCATTCCCAAGGGACCTGTTGGCACCCTTTCTCTCCCAGCCTTAGCCTCCTGGGCCCTAGTCCTGCTTAGAACAGGAAATTGGAACCAGAGGGTGGAAGGAGAGGAAGCCCCCACAGATGAACCCCTCTTGTACACACATACACCCACCATATGGTTCTTATTAAGGAAAAGGAAGTGGGAGCCGTCTTCATCCCCCAGCTCGCGTGCACCTTGTTCAGAGGGCCAAACGAGAGGTGCTCTG... |
Task1_train_665 | Gene COL8A2 (collagen type VIII alpha 2 chain), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Corneal dystrophy, Fuchs endothelial, 1 | GGGTTGGGAGGGGCATCCTGCCTGTTTCCTGCAGAGGAGCTCTGATCGGGGAACAGGGCAGAAACGTCCAGAGCCAACTCATTCCCAAGGGACCTGTTGGCACCCTTTCTCTCCCAGCCTTAGCCTCCTGGGCCCTAGTCCTGCTTAGAACAGGAAATTGGAACCAGAGGGTGGAAGGAGAGGAAGCCCCCACAGATGAACCCCTCTTGTACACACATACACCCACCATATGGTTCTTATTAAGGAAAAGGAAGTGGGAGCCGTCTTCATCCCCCAGCTCGCGTGCACCTTGTTCAGAGGGCCAAACGAGAGGTGCTCTG... | GGGTTGGGAGGGGCATCCTGCCTGTTTCCTGCAGAGGAGCTCTGATCGGGGAACAGGGCAGAAACGTCCAGAGCCAACTCATTCCCAAGGGACCTGTTGGCACCCTTTCTCTCCCAGCCTTAGCCTCCTGGGCCCTAGTCCTGCTTAGAACAGGAAATTGGAACCAGAGGGTGGAAGGAGAGGAAGCCCCCACAGATGAACCCCTCTTGTACACACATACACCCACCATATGGTTCTTATTAAGGAAAAGGAAGTGGGAGCCGTCTTCATCCCCCAGCTCGCGTGCACCTTGTTCAGAGGGCCAAACGAGAGGTGCTCTG... |
Task1_train_666 | A genetic alteration is present in COL8A2 (collagen type VIII alpha 2 chain) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Posterior polymorphous corneal dystrophy 2 | ATCCTGCCTGTTTCCTGCAGAGGAGCTCTGATCGGGGAACAGGGCAGAAACGTCCAGAGCCAACTCATTCCCAAGGGACCTGTTGGCACCCTTTCTCTCCCAGCCTTAGCCTCCTGGGCCCTAGTCCTGCTTAGAACAGGAAATTGGAACCAGAGGGTGGAAGGAGAGGAAGCCCCCACAGATGAACCCCTCTTGTACACACATACACCCACCATATGGTTCTTATTAAGGAAAAGGAAGTGGGAGCCGTCTTCATCCCCCAGCTCGCGTGCACCTTGTTCAGAGGGCCAAACGAGAGGTGCTCTGCCTTGGGGATACCT... | ATCCTGCCTGTTTCCTGCAGAGGAGCTCTGATCGGGGAACAGGGCAGAAACGTCCAGAGCCAACTCATTCCCAAGGGACCTGTTGGCACCCTTTCTCTCCCAGCCTTAGCCTCCTGGGCCCTAGTCCTGCTTAGAACAGGAAATTGGAACCAGAGGGTGGAAGGAGAGGAAGCCCCCACAGATGAACCCCTCTTGTACACACATACACCCACCATATGGTTCTTATTAAGGAAAAGGAAGTGGGAGCCGTCTTCATCCCCCAGCTCGCGTGCACCTTGTTCAGAGGGCCAAACGAGAGGTGCTCTGCCTTGGGGATACCT... |
Task1_train_667 | The following genetic variant occurs in COL8A2 (collagen type VIII alpha 2 chain) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Corneal dystrophy, Fuchs endothelial, 1 | ATCCTGCCTGTTTCCTGCAGAGGAGCTCTGATCGGGGAACAGGGCAGAAACGTCCAGAGCCAACTCATTCCCAAGGGACCTGTTGGCACCCTTTCTCTCCCAGCCTTAGCCTCCTGGGCCCTAGTCCTGCTTAGAACAGGAAATTGGAACCAGAGGGTGGAAGGAGAGGAAGCCCCCACAGATGAACCCCTCTTGTACACACATACACCCACCATATGGTTCTTATTAAGGAAAAGGAAGTGGGAGCCGTCTTCATCCCCCAGCTCGCGTGCACCTTGTTCAGAGGGCCAAACGAGAGGTGCTCTGCCTTGGGGATACCT... | ATCCTGCCTGTTTCCTGCAGAGGAGCTCTGATCGGGGAACAGGGCAGAAACGTCCAGAGCCAACTCATTCCCAAGGGACCTGTTGGCACCCTTTCTCTCCCAGCCTTAGCCTCCTGGGCCCTAGTCCTGCTTAGAACAGGAAATTGGAACCAGAGGGTGGAAGGAGAGGAAGCCCCCACAGATGAACCCCTCTTGTACACACATACACCCACCATATGGTTCTTATTAAGGAAAAGGAAGTGGGAGCCGTCTTCATCCCCCAGCTCGCGTGCACCTTGTTCAGAGGGCCAAACGAGAGGTGCTCTGCCTTGGGGATACCT... |
Task1_train_668 | This alteration in CSF3R (colony stimulating factor 3 receptor) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | CCTCACCCCTCCCTTAGACAAGGATGGGACCGTGTAAGAACTACTACTGGGTTTCAGCCATGTCTCTGGCAGCCTCGTAGCCTGGAGACTAAAGTCGCTGAGTTTGGAATCGCACAGTCCTGGTCTGGAATCCTAACTCAGCCATTTACTCAACATGTGATCTTGTGGGCAAGTCACTTAACCTATGTGGGCCCTGTAGGGATAGTAATAACAATATCTCTCTTTTAGGTTGTTGAGAGGATTAACTGAGTTGTATGCAGACCACCTGGTATATAGTGAGCATTTAGTAAATCTTTACGGTGACGTTATTTGTGAAATGA... | CCTCACCCCTCCCTTAGACAAGGATGGGACCGTGTAAGAACTACTACTGGGTTTCAGCCATGTCTCTGGCAGCCTCGTAGCCTGGAGACTAAAGTCGCTGAGTTTGGAATCGCACAGTCCTGGTCTGGAATCCTAACTCAGCCATTTACTCAACATGTGATCTTGTGGGCAAGTCACTTAACCTATGTGGGCCCTGTAGGGATAGTAATAACAATATCTCTCTTTTAGGTTGTTGAGAGGATTAACTGAGTTGTATGCAGACCACCTGGTATATAGTGAGCATTTAGTAAATCTTTACGGTGACGTTATTTGTGAAATGA... |
Task1_train_669 | This genomic variant is located on Chromosome 1, within the CSF3R (colony stimulating factor 3 receptor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary neutrophilia | TTGCAGTCTCTTTAGTGGATCACCAGTGTATCACATTCCGGTTTAATGCTTATTCAATAATAACACTGTTTTCTTTCTTTTCTACCCTTGTGAAGAGGTTTTCTGCGTTGGCAGGGGATTTTGTCTTTAATTTTATTTCCCCAACAGGGGTTAGTTTTTCCAAAGTCTCTTCACCGTGTCCCACCGCACTGTCACTCCCCCCGTGTAACCCATGCCACTGTGCCCTAAGGATCAGTTTTCAAGTCTCCACCACTAGAATGCAGCTCTCTGAGGGTGAACTGAGCTGAGTCGTTTGCATAGGGCCTAGATACTGAGAGCTA... | TTGCAGTCTCTTTAGTGGATCACCAGTGTATCACATTCCGGTTTAATGCTTATTCAATAATAACACTGTTTTCTTTCTTTTCTACCCTTGTGAAGAGGTTTTCTGCGTTGGCAGGGGATTTTGTCTTTAATTTTATTTCCCCAACAGGGGTTAGTTTTTCCAAAGTCTCTTCACCGTGTCCCACCGCACTGTCACTCCCCCCGTGTAACCCATGCCACTGTGCCCTAAGGATCAGTTTTCAAGTCTCCACCACTAGAATGCAGCTCTCTGAGGGTGAACTGAGCTGAGTCGTTTGCATAGGGCCTAGATACTGAGAGCTA... |
Task1_train_670 | This is a variant in CSF3R (colony stimulating factor 3 receptor), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Severe congenital neutropenia | ACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCGCAGCCTCCCGACTAGCTGGGATTACAGGCAACCGCCACCATGCCCGGCTAATTTTTGTATTTGTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGACCTCCTGACCTCAGATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACTGGACTCCTTGATACATTTTAATTCACTGAGTCCTCTAATAGTCATACCCAGGAAGTACTACTCTTTTCCCCATTTTACTAATGAGAAAACTGAGAGACACAGAGA... | ACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCGCAGCCTCCCGACTAGCTGGGATTACAGGCAACCGCCACCATGCCCGGCTAATTTTTGTATTTGTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGACCTCCTGACCTCAGATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACTGGACTCCTTGATACATTTTAATTCACTGAGTCCTCTAATAGTCATACCCAGGAAGTACTACTCTTTTCCCCATTTTACTAATGAGAAAACTGAGAGACACAGAGA... |
Task1_train_671 | The gene CSF3R (colony stimulating factor 3 receptor), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | ACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCGCAGCCTCCCGACTAGCTGGGATTACAGGCAACCGCCACCATGCCCGGCTAATTTTTGTATTTGTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGACCTCCTGACCTCAGATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACTGGACTCCTTGATACATTTTAATTCACTGAGTCCTCTAATAGTCATACCCAGGAAGTACTACTCTTTTCCCCATTTTACTAATGAGAAAACTGAGAGACACAGAGA... | ACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCGCAGCCTCCCGACTAGCTGGGATTACAGGCAACCGCCACCATGCCCGGCTAATTTTTGTATTTGTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGACCTCCTGACCTCAGATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACTGGACTCCTTGATACATTTTAATTCACTGAGTCCTCTAATAGTCATACCCAGGAAGTACTACTCTTTTCCCCATTTTACTAATGAGAAAACTGAGAGACACAGAGA... |
Task1_train_672 | The gene YRDC (yrdC N6-threonylcarbamoyltransferase domain containing) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Galloway-Mowat syndrome 10 | TGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGATGTGTGAGAATCACTTGAACCTGGGAGGCGGAGTTTGCAGCGAGCCAAGATCGTGCCACTGCACTCCAGTGTGGGCAACAGAGATTCTGTCTCAAAAAAAAAAAAAAAAGACTGAATCAGAATTTTGGGAACTAGGGTACAAGAGGGAAGGGGAGGAAGGAGGAAATAGACCCCAGTGGTCACCTCAAGGACACCCAGCCCCAGTTAGGTAACTGATATTAAGCCCCACCAGAGAGATGAGCAGGCCTGGCCACCTGGCTTTGGGGCTTAGCTGGGGAAACCAAG... | TGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGATGTGTGAGAATCACTTGAACCTGGGAGGCGGAGTTTGCAGCGAGCCAAGATCGTGCCACTGCACTCCAGTGTGGGCAACAGAGATTCTGTCTCAAAAAAAAAAAAAAAAGACTGAATCAGAATTTTGGGAACTAGGGTACAAGAGGGAAGGGGAGGAAGGAGGAAATAGACCCCAGTGGTCACCTCAAGGACACCCAGCCCCAGTTAGGTAACTGATATTAAGCCCCACCAGAGAGATGAGCAGGCCTGGCCACCTGGCTTTGGGGCTTAGCTGGGGAAACCAAG... |
Task1_train_673 | Gene YRDC, C1orf122, LOC129930167 (yrdC N6-threonylcarbamoyltransferase domain containing| chromosome 1 open reading frame 122| ATAC-STARR-seq lymphoblastoid silent region 680), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Galloway-Mowat syndrome 10 | AGCCCAAGGAAGGCCCAAGGCCTGATGCTGGATACTATGTGTGATACTATGTGTCTGGCCGAGTCTGGGGACACAATGTAGCTTATTACTACGTTTTACATCTTAGTAATAAGAAAAAAAACGAAATTTCTATGTGTCCTCCTTTGTTCTAATCTATGTAGCCAAGAAAGGATTAGGATGATCCTTTCTTTGATCTGGCTTGTGGCAGAGATAAGAGAACAGGGGCGAGAATCAAAAACTGGTTAAAAATCTGAGTCAGTCACTTAATGGCTGTGTGACCTGGAACAAGTGATTTAACTTTCTGGAGGCTAAACTTCATC... | AGCCCAAGGAAGGCCCAAGGCCTGATGCTGGATACTATGTGTGATACTATGTGTCTGGCCGAGTCTGGGGACACAATGTAGCTTATTACTACGTTTTACATCTTAGTAATAAGAAAAAAAACGAAATTTCTATGTGTCCTCCTTTGTTCTAATCTATGTAGCCAAGAAAGGATTAGGATGATCCTTTCTTTGATCTGGCTTGTGGCAGAGATAAGAGAACAGGGGCGAGAATCAAAAACTGGTTAAAAATCTGAGTCAGTCACTTAATGGCTGTGTGACCTGGAACAAGTGATTTAACTTTCTGGAGGCTAAACTTCATC... |
Task1_train_674 | Given this variant in gene MACF1 (microtubule actin crosslinking factor 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Lissencephaly | CAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTGGTGACAGGCGCTTGTATTCCCAGCTACTCTGGAAGCTGAGGCAGGAGAATCACTTGAACCAGGGAGACGGAAGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATCTATAACCGCCAACCGAACAAGTACCCCTCTTAATGTTTCAAAATATGATTCCTTTTCTCCAGAGTTCCCCACCACCAAGTTAGAGATGACT... | CAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTGGTGACAGGCGCTTGTATTCCCAGCTACTCTGGAAGCTGAGGCAGGAGAATCACTTGAACCAGGGAGACGGAAGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATCTATAACCGCCAACCGAACAAGTACCCCTCTTAATGTTTCAAAATATGATTCCTTTTCTCCAGAGTTCCCCACCACCAAGTTAGAGATGACT... |
Task1_train_675 | Gene MACF1 (microtubule actin crosslinking factor 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | TTGTGGGGCCCAGCTTCTGAGAGGGGGCTCTCACAGAGCCTGGGGGGCAGCTTCCTTCCCAGGACAGGACGTGTATTCTCTTTCAAGTCTGGGTTCAGTGCTGCTGCTACCACACAGTGCTTTTGCTGCAGTCACTTTGTATAAACATGTTTAAATTGTATCAGATGAAAGGTGTGGGACTTCTTTTATTTTCAAAGTAAAGGGCTGGGAGGGAGGATACAGTATTTTTCAATTGCCTTGCCTGTGCAAATACTGCATTTGAGTCAGAGCAGCTAAGGAATATGGAGAATTACCACAAGTATATTAATTTTGAGGGAGGA... | TTGTGGGGCCCAGCTTCTGAGAGGGGGCTCTCACAGAGCCTGGGGGGCAGCTTCCTTCCCAGGACAGGACGTGTATTCTCTTTCAAGTCTGGGTTCAGTGCTGCTGCTACCACACAGTGCTTTTGCTGCAGTCACTTTGTATAAACATGTTTAAATTGTATCAGATGAAAGGTGTGGGACTTCTTTTATTTTCAAAGTAAAGGGCTGGGAGGGAGGATACAGTATTTTTCAATTGCCTTGCCTGTGCAAATACTGCATTTGAGTCAGAGCAGCTAAGGAATATGGAGAATTACCACAAGTATATTAATTTTGAGGGAGGA... |
Task1_train_676 | Located on Chromosome 1, this mutation impacts TRIT1 (tRNA isopentenyltransferase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Combined oxidative phosphorylation deficiency 35 | AACTTCTTTTAAAAACCTGATCTAGAGGGTATTCAAGAAACACTCCCTGGCAGACACTTTTGAATGAAGATGAGACTGAAGGTAGCAAAGAGTGCAGCTACAGGTATTTCACCCACCTGAGCCAACCATGTTGCAAGAGTTTAGTCTCTGTGGTTAGCTTCCCTGCCTATATACACACTAAACTGCCTTCCACAACTAGGTTAAGTCAGTTGCCTAAAGGCAAAGGAGCATCGCCCATGGGCAAAAACATCAAAGGCCTTCGGATGCCAACGACTGGCAGGTGCTGGCCTTTTGATTGTGCCAACCCCAAATAAGATTCT... | AACTTCTTTTAAAAACCTGATCTAGAGGGTATTCAAGAAACACTCCCTGGCAGACACTTTTGAATGAAGATGAGACTGAAGGTAGCAAAGAGTGCAGCTACAGGTATTTCACCCACCTGAGCCAACCATGTTGCAAGAGTTTAGTCTCTGTGGTTAGCTTCCCTGCCTATATACACACTAAACTGCCTTCCACAACTAGGTTAAGTCAGTTGCCTAAAGGCAAAGGAGCATCGCCCATGGGCAAAAACATCAAAGGCCTTCGGATGCCAACGACTGGCAGGTGCTGGCCTTTTGATTGTGCCAACCCCAAATAAGATTCT... |
Task1_train_677 | This gene mutation involves TRIT1 (tRNA isopentenyltransferase 1) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Inborn genetic diseases | AACTTCTTTTAAAAACCTGATCTAGAGGGTATTCAAGAAACACTCCCTGGCAGACACTTTTGAATGAAGATGAGACTGAAGGTAGCAAAGAGTGCAGCTACAGGTATTTCACCCACCTGAGCCAACCATGTTGCAAGAGTTTAGTCTCTGTGGTTAGCTTCCCTGCCTATATACACACTAAACTGCCTTCCACAACTAGGTTAAGTCAGTTGCCTAAAGGCAAAGGAGCATCGCCCATGGGCAAAAACATCAAAGGCCTTCGGATGCCAACGACTGGCAGGTGCTGGCCTTTTGATTGTGCCAACCCCAAATAAGATTCT... | AACTTCTTTTAAAAACCTGATCTAGAGGGTATTCAAGAAACACTCCCTGGCAGACACTTTTGAATGAAGATGAGACTGAAGGTAGCAAAGAGTGCAGCTACAGGTATTTCACCCACCTGAGCCAACCATGTTGCAAGAGTTTAGTCTCTGTGGTTAGCTTCCCTGCCTATATACACACTAAACTGCCTTCCACAACTAGGTTAAGTCAGTTGCCTAAAGGCAAAGGAGCATCGCCCATGGGCAAAAACATCAAAGGCCTTCGGATGCCAACGACTGGCAGGTGCTGGCCTTTTGATTGTGCCAACCCCAAATAAGATTCT... |
Task1_train_678 | This mutation occurs in MFSD2A (MFSD2 lysolipid transporter A, lysophospholipid) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Microcephaly 15, primary, autosomal recessive | ACCTACAGCTACCTGACCCCCGACCTCTGGAAGGAGACTGTATTCACCAAGTCTCCCGATCAGGAATTCACTGACCACCTCATCAAGACCCACCAGGCTCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGAGAAGTAAAGTGAATTAAGCCTGTTAAAAAAAAAATGTTTACGAGACAGAGTCTTGCTATGTTGCACAGGCTGGACTCAAACTCCTGGGGAAAAGCAATCCTCTTGCCTCAGTTTCCCAAGTAGCTGGGATAACAGGCATGTGCCACTGCCATTACAGCCATTTTTAAGTGTACAGTTCAGTGGCA... | ACCTACAGCTACCTGACCCCCGACCTCTGGAAGGAGACTGTATTCACCAAGTCTCCCGATCAGGAATTCACTGACCACCTCATCAAGACCCACCAGGCTCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGAGAAGTAAAGTGAATTAAGCCTGTTAAAAAAAAAATGTTTACGAGACAGAGTCTTGCTATGTTGCACAGGCTGGACTCAAACTCCTGGGGAAAAGCAATCCTCTTGCCTCAGTTTCCCAAGTAGCTGGGATAACAGGCATGTGCCACTGCCATTACAGCCATTTTTAAGTGTACAGTTCAGTGGCA... |
Task1_train_679 | This variant lies on Chromosome 1 and affects the gene MFSD2A (MFSD2 lysolipid transporter A, lysophospholipid). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Microcephaly 15, primary, autosomal recessive | AGGGACCCTCCAGCCATACTTCTTCCCTTGCGGGTCCAGCTCTTTGCTCTGCTCTAGAGTGTGGGTGTGAAACCATCTTAAAAATAACTCAATCCCCTTATTGCTCAGATGAGACCTGGAGAGGTGCATATGCGTTCAAACCAAGGTGTCACCTACCCCACTACCTCTACCCACCCTGCCTGGAGCTACCGCTGGGCTCCCACCCATTTGACCTTCCTCCCTGGGCCCACAATCCATGAGGCCCCTCCAAAACACCTCCTTTTCTCCTGCCAGGGATGACTGTGGAAGTGCTGGGCACAGTGCTGGGCACGGCGATCCAG... | AGGGACCCTCCAGCCATACTTCTTCCCTTGCGGGTCCAGCTCTTTGCTCTGCTCTAGAGTGTGGGTGTGAAACCATCTTAAAAATAACTCAATCCCCTTATTGCTCAGATGAGACCTGGAGAGGTGCATATGCGTTCAAACCAAGGTGTCACCTACCCCACTACCTCTACCCACCCTGCCTGGAGCTACCGCTGGGCTCCCACCCATTTGACCTTCCTCCCTGGGCCCACAATCCATGAGGCCCCTCCAAAACACCTCCTTTTCTCCTGCCAGGGATGACTGTGGAAGTGCTGGGCACAGTGCTGGGCACGGCGATCCAG... |
Task1_train_680 | The gene PPT1 (palmitoyl-protein thioesterase 1) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neuronal ceroid lipofuscinosis 1 | ACATGAGGTTTCTCTTGTTGTTTGGAAACCATAAGGTTTCAGGATGTAGTGGATTTTTGTAACCCAGTGCCTAATAAGCTAGAGCACATAATCAAGAGCCTAACAAGCTTCACCCATATTGGACATGAGTCAGGTGTTTCAGGAGTACCTAGTGCTCTGAGGTGTAAAGGAAAGGGCTCCAGCACCAAAGAACATAGCAGCTTCAGGAACTGGGAGCTGAAAAAACACCAACCTCCCAAGATAGACTCCCTGCCAGTTACCTGTGTGTACAGGGAGGTCTCCTGTAAGGGAATGGTTTCCTTGGCTTGGCCACTTCTGTA... | ACATGAGGTTTCTCTTGTTGTTTGGAAACCATAAGGTTTCAGGATGTAGTGGATTTTTGTAACCCAGTGCCTAATAAGCTAGAGCACATAATCAAGAGCCTAACAAGCTTCACCCATATTGGACATGAGTCAGGTGTTTCAGGAGTACCTAGTGCTCTGAGGTGTAAAGGAAAGGGCTCCAGCACCAAAGAACATAGCAGCTTCAGGAACTGGGAGCTGAAAAAACACCAACCTCCCAAGATAGACTCCCTGCCAGTTACCTGTGTGTACAGGGAGGTCTCCTGTAAGGGAATGGTTTCCTTGGCTTGGCCACTTCTGTA... |
Task1_train_681 | A sequence alteration has been identified in PPT1 (palmitoyl-protein thioesterase 1) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Neuronal ceroid lipofuscinosis 1 | AGTGGCTGAGACTACAGGTGTGCACCACCACGCCTGCCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCAGGCCTCAAGTGATCTGCCTACCAAGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACTGCGCCCCGCCTTAATCAGTATTTAGGTGTCACTTGTCACCCCCCGACGGACTGCTCACTTAGCATCACTAACAGAATTCTGATCGCCAAGGGTTGTTTTGGTTCACACAAAGAAAGAAAAGTATAGGCGTTTTGGAGGCAACTGGGCAAGAGTGAG... | AGTGGCTGAGACTACAGGTGTGCACCACCACGCCTGCCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCAGGCCTCAAGTGATCTGCCTACCAAGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACTGCGCCCCGCCTTAATCAGTATTTAGGTGTCACTTGTCACCCCCCGACGGACTGCTCACTTAGCATCACTAACAGAATTCTGATCGCCAAGGGTTGTTTTGGTTCACACAAAGAAAGAAAAGTATAGGCGTTTTGGAGGCAACTGGGCAAGAGTGAG... |
Task1_train_682 | Located on Chromosome 1, this mutation impacts PPT1 (palmitoyl-protein thioesterase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Inborn genetic diseases | GTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTGAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGCATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAAACAAAATGAACAGGACCAAACTCTGATTTCATTCACTTATTCCTCATGAAAATAAAGCGCAGAGAACTAATACTATCA... | GTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTGAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGCATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAAACAAAATGAACAGGACCAAACTCTGATTTCATTCACTTATTCCTCATGAAAATAAAGCGCAGAGAACTAATACTATCA... |
Task1_train_683 | Assess the clinical impact of this variant on gene PPT1 (palmitoyl-protein thioesterase 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Neuronal ceroid lipofuscinosis 1 | GTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTGAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGCATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAAACAAAATGAACAGGACCAAACTCTGATTTCATTCACTTATTCCTCATGAAAATAAAGCGCAGAGAACTAATACTATCA... | GTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTGAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGCATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAAACAAAATGAACAGGACCAAACTCTGATTTCATTCACTTATTCCTCATGAAAATAAAGCGCAGAGAACTAATACTATCA... |
Task1_train_684 | With a mutation on Chromosome 1 in gene PPT1 (palmitoyl-protein thioesterase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Neuronal ceroid lipofuscinosis 1 | AAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGT... | AAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGT... |
Task1_train_685 | The following genetic variant occurs in PPT1 (palmitoyl-protein thioesterase 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Neuronal ceroid lipofuscinosis 1 | GTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTG... | GTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTG... |
Task1_train_686 | This variant affects the gene PPT1 (palmitoyl-protein thioesterase 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Neuronal ceroid lipofuscinosis 1 | GTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTA... | GTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTA... |
Task1_train_687 | Mutation context: Chromosome 1, Gene PPT1 (palmitoyl-protein thioesterase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | TATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCC... | TATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCC... |
Task1_train_688 | Given this variant in gene PPT1 (palmitoyl-protein thioesterase 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Neuronal ceroid lipofuscinosis 1 | TATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCC... | TATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCC... |
Task1_train_689 | This is a variant in PPT1 (palmitoyl-protein thioesterase 1), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Retinitis pigmentosa | TATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCC... | TATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCC... |
Task1_train_690 | The gene PPT1 (palmitoyl-protein thioesterase 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Neuronal ceroid lipofuscinosis 1 | GTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATT... | GTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATT... |
Task1_train_691 | A variant on Chromosome 1 in gene PPT1 (palmitoyl-protein thioesterase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Neuronal ceroid lipofuscinosis 1 | TTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTAAGCCC... | TTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTAAGCCC... |
Task1_train_692 | Gene PPT1 (palmitoyl-protein thioesterase 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neuronal ceroid lipofuscinosis 1 | TCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTAAGCCCA... | TCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTAAGCCCA... |
Task1_train_693 | Gene ZMPSTE24 (zinc metallopeptidase STE24) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TTTTCTTTTTGCAGACTTTGGGGTTCTTCATGAAAGATGCAATCAAGAAATTTGTTGTGACTCAGTGTATTTTGTTGCCTGTGTCTTCACTTCTACTTTACATTATTAAAATTGGGGGTGACTATTTTTTTATTTATGCCTGGCTGTTCACATTAGTTGTGTCTCTGGTGAGTAAAATCTTTATTTCGTTTTCTTTTGCAAAAGTTCCTTGGTGAGATTACTGTAATCTTCATTGGCATGTAAACAGTTCTTAAGAAGCAGCTGAAATATAAATAGGTGCTTATATACATTTCCCCCTTGGTTTCTGCTTTTGATTGTAG... | TTTTCTTTTTGCAGACTTTGGGGTTCTTCATGAAAGATGCAATCAAGAAATTTGTTGTGACTCAGTGTATTTTGTTGCCTGTGTCTTCACTTCTACTTTACATTATTAAAATTGGGGGTGACTATTTTTTTATTTATGCCTGGCTGTTCACATTAGTTGTGTCTCTGGTGAGTAAAATCTTTATTTCGTTTTCTTTTGCAAAAGTTCCTTGGTGAGATTACTGTAATCTTCATTGGCATGTAAACAGTTCTTAAGAAGCAGCTGAAATATAAATAGGTGCTTATATACATTTCCCCCTTGGTTTCTGCTTTTGATTGTAG... |
Task1_train_694 | Consider this mutation in ZMPSTE24 (zinc metallopeptidase STE24) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | TTTCTGTTAATATTTGTTAGGTTGGTGCAAAAGTAATTGCAGTTTCAGACCATGAATTTTGAATCCTTATAACTAGGCTCAAACACATCTTTATTAATCAAAAGAAGAACCATTACAATCAACACATTTTTGCCAACAAGAAATACGTTTGCTTATTTCTGTAGGGTAAAACTCTGTGCTTCGGGATTTGGCAAACTCTTGGAAAGCATTTTCTGCATCCAGCTAGTTGTGAAAACGTTTTCTCTTTAAAAAGTTGTTGAGATGCTTGAATAAGTGGTAGTCAGTTGGCAAGAGGTCAGGTGAATGTGGCAGATCAGGCA... | TTTCTGTTAATATTTGTTAGGTTGGTGCAAAAGTAATTGCAGTTTCAGACCATGAATTTTGAATCCTTATAACTAGGCTCAAACACATCTTTATTAATCAAAAGAAGAACCATTACAATCAACACATTTTTGCCAACAAGAAATACGTTTGCTTATTTCTGTAGGGTAAAACTCTGTGCTTCGGGATTTGGCAAACTCTTGGAAAGCATTTTCTGCATCCAGCTAGTTGTGAAAACGTTTTCTCTTTAAAAAGTTGTTGAGATGCTTGAATAAGTGGTAGTCAGTTGGCAAGAGGTCAGGTGAATGTGGCAGATCAGGCA... |
Task1_train_695 | A change on Chromosome 1 affects gene ZMPSTE24 (zinc metallopeptidase STE24). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Mandibuloacral dysplasia with type B lipodystrophy | TTTTTTTTTTTTTTTTTGAGATGTAGTCTTGCCCTCTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCAGCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTGGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGCATTACAGGCTTGAGTCACCATGCCTGGCCTTCAGCTT... | TTTTTTTTTTTTTTTTTGAGATGTAGTCTTGCCCTCTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCAGCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTGGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGCATTACAGGCTTGAGTCACCATGCCTGGCCTTCAGCTT... |
Task1_train_696 | With a mutation on Chromosome 1 in gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A | GGAGGACAGTGCTGCATATTTTGGGGGTGCCATCTTCAGCTCATAGAGAGAAGATGGGTTAACTCAGCCCAGGCACCACATCCCTAGTGGGGCCTTGGGGTCCAGAAACTGTCCCCAGCTTCCAGTAGAGGATCCGGGCATAACCTGCCCTGGGGCACCCGGCTCTGGCCCTGGGCACACCTGGACCAGGAGCAGCAGAAGAGATTCAGGTCAGACCCCAGAGGGCACCCCCAGCTAGGCAGAGGGGAAAGGATCACTATGGGGTAGGGGTGTGGGCCGGTTGCCAAGCCCAGTTTAGGGACCCCACAGATCCCTGCAGC... | GGAGGACAGTGCTGCATATTTTGGGGGTGCCATCTTCAGCTCATAGAGAGAAGATGGGTTAACTCAGCCCAGGCACCACATCCCTAGTGGGGCCTTGGGGTCCAGAAACTGTCCCCAGCTTCCAGTAGAGGATCCGGGCATAACCTGCCCTGGGGCACCCGGCTCTGGCCCTGGGCACACCTGGACCAGGAGCAGCAGAAGAGATTCAGGTCAGACCCCAGAGGGCACCCCCAGCTAGGCAGAGGGGAAAGGATCACTATGGGGTAGGGGTGTGGGCCGGTTGCCAAGCCCAGTTTAGGGACCCCACAGATCCCTGCAGC... |
Task1_train_697 | This mutation is located in gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A | GCTGTCTGCAGGGAAGTTCCTGGCCTCGATGGCCCAGCTCCACACTGCCCAATTCCCCTCCCTACATCCTCTCCCTGCTGCATCATTCCTTCTCTACCTGTCCTCCATGATCCTCTTTCCTTTTCTAGCTGTCTCGTTACTTAATTCCACGAAGGCAGGGGCAGTTGTCCCAATTCTGCAGATGAGGCCAGGCTCCTGCCACTTTGGAGTGCATAAGAAAGAAGGTCCCTCCTTCATCCGCTGACCTTCCCTGAGCCCTGGGCTGACCTCTGGGGCACTTCTCCCAAGACATCTTAAAACCAAGCTGGGGCCAAGGCCAC... | GCTGTCTGCAGGGAAGTTCCTGGCCTCGATGGCCCAGCTCCACACTGCCCAATTCCCCTCCCTACATCCTCTCCCTGCTGCATCATTCCTTCTCTACCTGTCCTCCATGATCCTCTTTCCTTTTCTAGCTGTCTCGTTACTTAATTCCACGAAGGCAGGGGCAGTTGTCCCAATTCTGCAGATGAGGCCAGGCTCCTGCCACTTTGGAGTGCATAAGAAAGAAGGTCCCTCCTTCATCCGCTGACCTTCCCTGAGCCCTGGGCTGACCTCTGGGGCACTTCTCCCAAGACATCTTAAAACCAAGCTGGGGCCAAGGCCAC... |
Task1_train_698 | Gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Bilateral sensorineural hearing impairment | GAAGTTCCTGGCCTCGATGGCCCAGCTCCACACTGCCCAATTCCCCTCCCTACATCCTCTCCCTGCTGCATCATTCCTTCTCTACCTGTCCTCCATGATCCTCTTTCCTTTTCTAGCTGTCTCGTTACTTAATTCCACGAAGGCAGGGGCAGTTGTCCCAATTCTGCAGATGAGGCCAGGCTCCTGCCACTTTGGAGTGCATAAGAAAGAAGGTCCCTCCTTCATCCGCTGACCTTCCCTGAGCCCTGGGCTGACCTCTGGGGCACTTCTCCCAAGACATCTTAAAACCAAGCTGGGGCCAAGGCCACCACTTGTGGATG... | GAAGTTCCTGGCCTCGATGGCCCAGCTCCACACTGCCCAATTCCCCTCCCTACATCCTCTCCCTGCTGCATCATTCCTTCTCTACCTGTCCTCCATGATCCTCTTTCCTTTTCTAGCTGTCTCGTTACTTAATTCCACGAAGGCAGGGGCAGTTGTCCCAATTCTGCAGATGAGGCCAGGCTCCTGCCACTTTGGAGTGCATAAGAAAGAAGGTCCCTCCTTCATCCGCTGACCTTCCCTGAGCCCTGGGCTGACCTCTGGGGCACTTCTCCCAAGACATCTTAAAACCAAGCTGGGGCCAAGGCCACCACTTGTGGATG... |
Task1_train_699 | A genetic alteration is present in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A | GACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGC... | GACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGC... |
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