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_9100 | A sequence alteration has been identified in NIPBL (NIPBL cohesin loading factor) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Cornelia de Lange syndrome 1 | CTGGGTGACAGAACGAGGCTCTGTGTCAAAAAAAAAAGTCCAAAATCTATGCCGGTAATCCATTACTAACAATGAGGATTAGTAGCTTAAAAACTAGATTAAGGCTGGACATGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAAGTGTGGAGTTTAAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCTAGTTGTCGATCCATATTCCCGACATGCTGGTGCTTCTCCTTCCATGCCTCCAGCTACTCTGGAG... | CTGGGTGACAGAACGAGGCTCTGTGTCAAAAAAAAAAGTCCAAAATCTATGCCGGTAATCCATTACTAACAATGAGGATTAGTAGCTTAAAAACTAGATTAAGGCTGGACATGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAAGTGTGGAGTTTAAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCTAGTTGTCGATCCATATTCCCGACATGCTGGTGCTTCTCCTTCCATGCCTCCAGCTACTCTGGAG... |
Task1_train_9101 | A mutation in NIPBL (NIPBL cohesin loading factor), located on Chromosome 5, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cornelia de Lange syndrome 1 | TTTCTTCTACCCCTCCTCCATAGGGTATCTTAAGAACATTTATTAAAGCCCTTTGATAAAGAAAAATAATATAGAAGAATTCTGTGCTCTTTGCATTTTTTTAATTGTTCTTTTTCATTGCAAAGCTTTGTCACTACAGGAAGCTGCCACATCTGGTTAAAACAATGATCAGTCTACACTGACTTATTTATATAAAAGCAAATAGTAAGCAACCCAGAAGGAACAATTTGGATATATACCTGTTTTATAATGTTTTTCCAGGAAGGATTGATGTAATAAAAACATGTTTTGCAATTGTTAGGCAGGTCTATGTGGCTTAT... | TTTCTTCTACCCCTCCTCCATAGGGTATCTTAAGAACATTTATTAAAGCCCTTTGATAAAGAAAAATAATATAGAAGAATTCTGTGCTCTTTGCATTTTTTTAATTGTTCTTTTTCATTGCAAAGCTTTGTCACTACAGGAAGCTGCCACATCTGGTTAAAACAATGATCAGTCTACACTGACTTATTTATATAAAAGCAAATAGTAAGCAACCCAGAAGGAACAATTTGGATATATACCTGTTTTATAATGTTTTTCCAGGAAGGATTGATGTAATAAAAACATGTTTTGCAATTGTTAGGCAGGTCTATGTGGCTTAT... |
Task1_train_9102 | Mutation context: Chromosome 5, Gene NIPBL (NIPBL cohesin loading factor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cornelia de Lange syndrome 1 | TAAGAACATTTATTAAAGCCCTTTGATAAAGAAAAATAATATAGAAGAATTCTGTGCTCTTTGCATTTTTTTAATTGTTCTTTTTCATTGCAAAGCTTTGTCACTACAGGAAGCTGCCACATCTGGTTAAAACAATGATCAGTCTACACTGACTTATTTATATAAAAGCAAATAGTAAGCAACCCAGAAGGAACAATTTGGATATATACCTGTTTTATAATGTTTTTCCAGGAAGGATTGATGTAATAAAAACATGTTTTGCAATTGTTAGGCAGGTCTATGTGGCTTATATCTAGGAAGGAATTAGAATATGAGGAAAT... | TAAGAACATTTATTAAAGCCCTTTGATAAAGAAAAATAATATAGAAGAATTCTGTGCTCTTTGCATTTTTTTAATTGTTCTTTTTCATTGCAAAGCTTTGTCACTACAGGAAGCTGCCACATCTGGTTAAAACAATGATCAGTCTACACTGACTTATTTATATAAAAGCAAATAGTAAGCAACCCAGAAGGAACAATTTGGATATATACCTGTTTTATAATGTTTTTCCAGGAAGGATTGATGTAATAAAAACATGTTTTGCAATTGTTAGGCAGGTCTATGTGGCTTATATCTAGGAAGGAATTAGAATATGAGGAAAT... |
Task1_train_9103 | The following genetic variant occurs in NIPBL (NIPBL cohesin loading factor) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cornelia de Lange syndrome 1 | AAGCCCTTTGATAAAGAAAAATAATATAGAAGAATTCTGTGCTCTTTGCATTTTTTTAATTGTTCTTTTTCATTGCAAAGCTTTGTCACTACAGGAAGCTGCCACATCTGGTTAAAACAATGATCAGTCTACACTGACTTATTTATATAAAAGCAAATAGTAAGCAACCCAGAAGGAACAATTTGGATATATACCTGTTTTATAATGTTTTTCCAGGAAGGATTGATGTAATAAAAACATGTTTTGCAATTGTTAGGCAGGTCTATGTGGCTTATATCTAGGAAGGAATTAGAATATGAGGAAATAGGAGGTGAATGGCA... | AAGCCCTTTGATAAAGAAAAATAATATAGAAGAATTCTGTGCTCTTTGCATTTTTTTAATTGTTCTTTTTCATTGCAAAGCTTTGTCACTACAGGAAGCTGCCACATCTGGTTAAAACAATGATCAGTCTACACTGACTTATTTATATAAAAGCAAATAGTAAGCAACCCAGAAGGAACAATTTGGATATATACCTGTTTTATAATGTTTTTCCAGGAAGGATTGATGTAATAAAAACATGTTTTGCAATTGTTAGGCAGGTCTATGTGGCTTATATCTAGGAAGGAATTAGAATATGAGGAAATAGGAGGTGAATGGCA... |
Task1_train_9104 | The variant affects gene NIPBL (NIPBL cohesin loading factor), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Cornelia de Lange syndrome 1 | TGGGAGGTTCTGGAGCCAATCCCCCATGGATACCGAGCAATGACTGTACACGTAAAGCTACCCAATGAGATTAAAAACTTATTTGGAAATTTTATTTTGGTGTTATGATTAAGGTTTATACTTTAATCTGCATGAGTAGTTATTTATATTAGTCTTTTGAACAAAAATGAGTAAGAAAAGATTCTAACTTACCCATACCTTATTAAATCATGTTTATGATTTCTGTAAATAAATTGAAACCTTATCATTTTATTCCTCCTCCATCCCTTTTTGAAAATTACATATAGCACATAGAGTAAAAATTCAGACATCATTTACTA... | TGGGAGGTTCTGGAGCCAATCCCCCATGGATACCGAGCAATGACTGTACACGTAAAGCTACCCAATGAGATTAAAAACTTATTTGGAAATTTTATTTTGGTGTTATGATTAAGGTTTATACTTTAATCTGCATGAGTAGTTATTTATATTAGTCTTTTGAACAAAAATGAGTAAGAAAAGATTCTAACTTACCCATACCTTATTAAATCATGTTTATGATTTCTGTAAATAAATTGAAACCTTATCATTTTATTCCTCCTCCATCCCTTTTTGAAAATTACATATAGCACATAGAGTAAAAATTCAGACATCATTTACTA... |
Task1_train_9105 | Given this variant in gene NIPBL (NIPBL cohesin loading factor) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cornelia de Lange syndrome 1 | TGGGAGGTTCTGGAGCCAATCCCCCATGGATACCGAGCAATGACTGTACACGTAAAGCTACCCAATGAGATTAAAAACTTATTTGGAAATTTTATTTTGGTGTTATGATTAAGGTTTATACTTTAATCTGCATGAGTAGTTATTTATATTAGTCTTTTGAACAAAAATGAGTAAGAAAAGATTCTAACTTACCCATACCTTATTAAATCATGTTTATGATTTCTGTAAATAAATTGAAACCTTATCATTTTATTCCTCCTCCATCCCTTTTTGAAAATTACATATAGCACATAGAGTAAAAATTCAGACATCATTTACTA... | TGGGAGGTTCTGGAGCCAATCCCCCATGGATACCGAGCAATGACTGTACACGTAAAGCTACCCAATGAGATTAAAAACTTATTTGGAAATTTTATTTTGGTGTTATGATTAAGGTTTATACTTTAATCTGCATGAGTAGTTATTTATATTAGTCTTTTGAACAAAAATGAGTAAGAAAAGATTCTAACTTACCCATACCTTATTAAATCATGTTTATGATTTCTGTAAATAAATTGAAACCTTATCATTTTATTCCTCCTCCATCCCTTTTTGAAAATTACATATAGCACATAGAGTAAAAATTCAGACATCATTTACTA... |
Task1_train_9106 | A mutation in NIPBL (NIPBL cohesin loading factor), located on Chromosome 5, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cornelia de Lange syndrome 1 | TACATGGGAGGCTGAGGCAGGAAAATTGCTTGAACCCAGGAAGCAGAGAACCCAGGAAGCAGAGGTTGCAGTGAGCTGAGACCGTGCCATTGCACTCCAGCCTGGCCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTCACACAAAGAAATTGCAAAAGTGATACGATGAATTCCTTTATTCTCTTCACCTCTATTCACCATTTGTTGACATTTTGCCACAATTGCTTTCTCTCTCTCCCTTTATACATCTGCTTTTTTCTGAATCATTTGGTAGGAAGTTTCAAGTAATTATGATTCTTTACCACTAA... | TACATGGGAGGCTGAGGCAGGAAAATTGCTTGAACCCAGGAAGCAGAGAACCCAGGAAGCAGAGGTTGCAGTGAGCTGAGACCGTGCCATTGCACTCCAGCCTGGCCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTCACACAAAGAAATTGCAAAAGTGATACGATGAATTCCTTTATTCTCTTCACCTCTATTCACCATTTGTTGACATTTTGCCACAATTGCTTTCTCTCTCTCCCTTTATACATCTGCTTTTTTCTGAATCATTTGGTAGGAAGTTTCAAGTAATTATGATTCTTTACCACTAA... |
Task1_train_9107 | A variant has been detected on Chromosome 5 in NIPBL (NIPBL cohesin loading factor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Cornelia de Lange syndrome 1 | TGGCCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTCACACAAAGAAATTGCAAAAGTGATACGATGAATTCCTTTATTCTCTTCACCTCTATTCACCATTTGTTGACATTTTGCCACAATTGCTTTCTCTCTCTCCCTTTATACATCTGCTTTTTTCTGAATCATTTGGTAGGAAGTTTCAAGTAATTATGATTCTTTACCACTAAACACTTCAGCATATATTTTCTAAGAACAAGGACATTCTCTTACAAAACCGTAATATAATCATTAAATTTGGGAAGTTTAACACTGATACAATATTATCTAAT... | TGGCCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTCACACAAAGAAATTGCAAAAGTGATACGATGAATTCCTTTATTCTCTTCACCTCTATTCACCATTTGTTGACATTTTGCCACAATTGCTTTCTCTCTCTCCCTTTATACATCTGCTTTTTTCTGAATCATTTGGTAGGAAGTTTCAAGTAATTATGATTCTTTACCACTAAACACTTCAGCATATATTTTCTAAGAACAAGGACATTCTCTTACAAAACCGTAATATAATCATTAAATTTGGGAAGTTTAACACTGATACAATATTATCTAAT... |
Task1_train_9108 | The variant affects gene NIPBL (NIPBL cohesin loading factor), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Cornelia de Lange syndrome 1 | ACATGGCAAAATCCTCTCTCTCCTGAAAATACAAAAAAATTAGCCAGGCATGATGGCGCGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCACTTGAACCTGGGCAGCAGAGATTGGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCTGAGCGACAGAGCGAGACTCCATCTCAACAGTAAAAAAAAAAAAAAAAAAGAATGGATAGTAGAAAAGAAAAGAAAGTTGAGGAAAGAATTAAATGAGACTGTGTGAAAAGAATAGTTAGTGGACAACTGGAATATTTTTATCTTGAGCACCTGAAAC... | ACATGGCAAAATCCTCTCTCTCCTGAAAATACAAAAAAATTAGCCAGGCATGATGGCGCGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCACTTGAACCTGGGCAGCAGAGATTGGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCTGAGCGACAGAGCGAGACTCCATCTCAACAGTAAAAAAAAAAAAAAAAAAGAATGGATAGTAGAAAAGAAAAGAAAGTTGAGGAAAGAATTAAATGAGACTGTGTGAAAAGAATAGTTAGTGGACAACTGGAATATTTTTATCTTGAGCACCTGAAAC... |
Task1_train_9109 | Given this variant in gene NIPBL (NIPBL cohesin loading factor) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cornelia de Lange syndrome 1 | TCTCCTGAAAATACAAAAAAATTAGCCAGGCATGATGGCGCGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCACTTGAACCTGGGCAGCAGAGATTGGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCTGAGCGACAGAGCGAGACTCCATCTCAACAGTAAAAAAAAAAAAAAAAAAGAATGGATAGTAGAAAAGAAAAGAAAGTTGAGGAAAGAATTAAATGAGACTGTGTGAAAAGAATAGTTAGTGGACAACTGGAATATTTTTATCTTGAGCACCTGAAACAATAATAGGATTGTTGCC... | TCTCCTGAAAATACAAAAAAATTAGCCAGGCATGATGGCGCGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCACTTGAACCTGGGCAGCAGAGATTGGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCTGAGCGACAGAGCGAGACTCCATCTCAACAGTAAAAAAAAAAAAAAAAAAGAATGGATAGTAGAAAAGAAAAGAAAGTTGAGGAAAGAATTAAATGAGACTGTGTGAAAAGAATAGTTAGTGGACAACTGGAATATTTTTATCTTGAGCACCTGAAACAATAATAGGATTGTTGCC... |
Task1_train_9110 | This variant affects gene NIPBL (NIPBL cohesin loading factor) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; Cornelia de Lange syndrome 1 | TATCTCTGTCTAACATTAAGTGAGGTGAAAGTGCCCTGTATTTTTTCTAAAAAAGGTTTTTTGGTTGGGTTTCTAGATTATCCGCTAAACATGTGTGCTTTTTCTTAAAATTTACAGAAAACAGACGTGACTATGCTCTTGTATATAGCAGACAATCTAGCCTGTTTTCCATACCAGACACAGGAAGAGCCGTTGTTTATAATGCATCATATAGACATTACACTCTCAGTTTCTGGTAGTAACCTACTGCAGTCATTCAAGGAGGTAAGTTACACACATTACTATTCTTAATCCATCTGTCAAAGTGCAGGCATGCTGTT... | TATCTCTGTCTAACATTAAGTGAGGTGAAAGTGCCCTGTATTTTTTCTAAAAAAGGTTTTTTGGTTGGGTTTCTAGATTATCCGCTAAACATGTGTGCTTTTTCTTAAAATTTACAGAAAACAGACGTGACTATGCTCTTGTATATAGCAGACAATCTAGCCTGTTTTCCATACCAGACACAGGAAGAGCCGTTGTTTATAATGCATCATATAGACATTACACTCTCAGTTTCTGGTAGTAACCTACTGCAGTCATTCAAGGAGGTAAGTTACACACATTACTATTCTTAATCCATCTGTCAAAGTGCAGGCATGCTGTT... |
Task1_train_9111 | Here’s a variant in CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Joubert syndrome 17 | CTGGAGCAAAGCACCAATAAAAACAGAAGGGCCTCACAGTTGCCCTGGTTTTACATTAAATATACGACATTAAATGACTGATTTCATTACTTTTTATCTAAATTTCTCCAACTGTAAAACAGATAAATTTTATAGGATTCCTGTGTGAATCCATGTAATACATGTAATATTCTATCATTTTTAATTTTTTAATACCATTTTGAACTTTTCAAATAAAAAAGATCTATAATTTATGCACTAGGTGAGAGTTGAAATAAATCACTCCTAAGTACCCTTCCAGGCTTGAGATTCTACAGCTCCAAAAGAAAATGATACAAATG... | CTGGAGCAAAGCACCAATAAAAACAGAAGGGCCTCACAGTTGCCCTGGTTTTACATTAAATATACGACATTAAATGACTGATTTCATTACTTTTTATCTAAATTTCTCCAACTGTAAAACAGATAAATTTTATAGGATTCCTGTGTGAATCCATGTAATACATGTAATATTCTATCATTTTTAATTTTTTAATACCATTTTGAACTTTTCAAATAAAAAAGATCTATAATTTATGCACTAGGTGAGAGTTGAAATAAATCACTCCTAAGTACCCTTCCAGGCTTGAGATTCTACAGCTCCAAAAGAAAATGATACAAATG... |
Task1_train_9112 | A change on Chromosome 5 affects gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Joubert syndrome 17 | GCCTTGAAAGTGAAATATATCTGGAAGGTCTGGGCAGATCACACATTGCTTCCCCCAGTCCTTATCCTGACAGAATGCCCCCGCCATCACCCGCTGAGTCTAGGCACAACCTCTCCATCCCTCCCTTCTCCAGCCCTCCGGAGCAGAAAGCGGGTCTTTACTGGAGACAAAATGAACTTCAAGACAAAAGTGAATTTTCAGATGCGGACAAGCTAGCTTTTAAGGATAACGAGGAATTTGAATCATCTTTTGAATATGCACGGAATGTGCCAAGGCAGTTTGAAATGGATGGGCCCTCTCCTGCCGGGGATATGCTTCAT... | GCCTTGAAAGTGAAATATATCTGGAAGGTCTGGGCAGATCACACATTGCTTCCCCCAGTCCTTATCCTGACAGAATGCCCCCGCCATCACCCGCTGAGTCTAGGCACAACCTCTCCATCCCTCCCTTCTCCAGCCCTCCGGAGCAGAAAGCGGGTCTTTACTGGAGACAAAATGAACTTCAAGACAAAAGTGAATTTTCAGATGCGGACAAGCTAGCTTTTAAGGATAACGAGGAATTTGAATCATCTTTTGAATATGCACGGAATGTGCCAAGGCAGTTTGAAATGGATGGGCCCTCTCCTGCCGGGGATATGCTTCAT... |
Task1_train_9113 | Given a variant located on Chromosome 5 and affecting CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | CAGATATTTTAAATACGTTTTGGTTTTTTAAGTTCATGAATCTGTTATTTCCCAGTTAAATCGCATATTTAGTATCATCAATTCTAGCTTGTTAAATTACCAAACAAGCTCTCTCTCTATATATAATATATAAAAAATATATATACATATATAATATATAACATATAAAAATATAATATATAATATACATGTATTATATATAATATATAATATGCATATAATATATATAATATATACATGTTATATACATATATAATATACCATATAATATATAATATATACGATATATATTATATACGTGTATATATATTATATATTAT... | CAGATATTTTAAATACGTTTTGGTTTTTTAAGTTCATGAATCTGTTATTTCCCAGTTAAATCGCATATTTAGTATCATCAATTCTAGCTTGTTAAATTACCAAACAAGCTCTCTCTCTATATATAATATATAAAAAATATATATACATATATAATATATAACATATAAAAATATAATATATAATATACATGTATTATATATAATATATAATATGCATATAATATATATAATATATACATGTTATATACATATATAATATACCATATAATATATAATATATACGATATATATTATATACGTGTATATATATTATATATTAT... |
Task1_train_9114 | Located on Chromosome 5, this mutation impacts CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | TCACCCTAAGTTATTAAAAAATATAGTTTTAGCCATTTGAAAATATCAGTACTACTTAACCATTACTGGATGTTGTTAGGACAATAACATCCTTCAAGAAAGGCTGCAGACTAGGAATTTTCTTCTTTATCTTTCCTGATAGCAAATTAATTTCATTTATGAATTTATCATCCAAAAGAAAAACGGCTTCTTTTTCCTAAGAGAAGAAACATGTGAAGGACTCAAGAGGTGCCAGAAATTAATTCAACTTACTGCCTAAATAAATTATCCCAGAAATCAAAGCGACATTTAAGAAAGATTATCCATTTGTACCACAAATC... | TCACCCTAAGTTATTAAAAAATATAGTTTTAGCCATTTGAAAATATCAGTACTACTTAACCATTACTGGATGTTGTTAGGACAATAACATCCTTCAAGAAAGGCTGCAGACTAGGAATTTTCTTCTTTATCTTTCCTGATAGCAAATTAATTTCATTTATGAATTTATCATCCAAAAGAAAAACGGCTTCTTTTTCCTAAGAGAAGAAACATGTGAAGGACTCAAGAGGTGCCAGAAATTAATTCAACTTACTGCCTAAATAAATTATCCCAGAAATCAAAGCGACATTTAAGAAAGATTATCCATTTGTACCACAAATC... |
Task1_train_9115 | Assess the clinical impact of this variant on gene NUP155 (nucleoporin 155), found on Chromosome 5. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Atrial fibrillation, familial, 15 | CCCAGCAGTTTCGGAGGCTGAGGCAGGCTGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATAAAGTAAGACCTTGTTTCAACAAAACATGAGGCAGGAGGATTGCTTGAGCCGGGGAGGTAGAGGCTGTAATGAGTCATGACTGCATATTGCACTCCTGCTTGGGTGACAGTAGACACTGTCTCAAAAAAAAAAAAAAAAAAGGCAATTATCTCAACAAAACTTGCCAACACGGTGGCTCACGCCTATAATCCTAGCGCTTTGGGAGGCAGAGGTGGTAGGACTGCTTGAGCCCAGGAGTTTAAGACCAGCC... | CCCAGCAGTTTCGGAGGCTGAGGCAGGCTGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATAAAGTAAGACCTTGTTTCAACAAAACATGAGGCAGGAGGATTGCTTGAGCCGGGGAGGTAGAGGCTGTAATGAGTCATGACTGCATATTGCACTCCTGCTTGGGTGACAGTAGACACTGTCTCAAAAAAAAAAAAAAAAAAGGCAATTATCTCAACAAAACTTGCCAACACGGTGGCTCACGCCTATAATCCTAGCGCTTTGGGAGGCAGAGGTGGTAGGACTGCTTGAGCCCAGGAGTTTAAGACCAGCC... |
Task1_train_9116 | A variant was discovered in gene LIFR (LIF receptor subunit alpha), Chromosome 5. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Stuve-Wiedemann syndrome | TCACTTCATTTCCTCATTAGGATGCACTCTTCTAGTAGCTTCTTGAGAAAAGCAACATGGGGAAAGTAAATGTTTGCAGCCTCGCATGTACAAAATATCTGCATTTCTCTCTCACGTTGGTTGACAGACTGGTGGAGTATCGAATTTTAGGTTGAAAATAATTTTCATTCAGTATTTTGAAGAGACTTCTAGTATCTGGAGTGTTGCTGGGCTGTCTATTGCCATTATTATTCCTGATTGCTTGCACATGACCTGCTTGTCTCTGATCATTTCTTTCACATTAGCTGCTTGGAAAATTCATAATGACATACCTTGGCATA... | TCACTTCATTTCCTCATTAGGATGCACTCTTCTAGTAGCTTCTTGAGAAAAGCAACATGGGGAAAGTAAATGTTTGCAGCCTCGCATGTACAAAATATCTGCATTTCTCTCTCACGTTGGTTGACAGACTGGTGGAGTATCGAATTTTAGGTTGAAAATAATTTTCATTCAGTATTTTGAAGAGACTTCTAGTATCTGGAGTGTTGCTGGGCTGTCTATTGCCATTATTATTCCTGATTGCTTGCACATGACCTGCTTGTCTCTGATCATTTCTTTCACATTAGCTGCTTGGAAAATTCATAATGACATACCTTGGCATA... |
Task1_train_9117 | A genomic change on Chromosome 5 affects OSMR (oncostatin M receptor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Amyloidosis, primary localized cutaneous, 1 | GGTCATATAGTCTCCATTACATATTTTATTATATGCCTTCTTTGTTGGTTTATTTTTATTTTTACAACCCTTAAAATGTCTTAGAACCATTCTTAGCTCAAGGGTCATATGAAAACAACCCTCAGAGGCTGGAATCATCCTCCTGGTGGTAGTTTGCTGACCCCTGTCCTAGGTGCTGAAGTCTGGTTGGGCTTCAGAAGGTCAACATGATGGGCATCTGAAGGGCAGGTGTGAATATTCGCTGGGAAGTAAGAGACAAGAACTCACCCATGAAAACATCCCCCACCCAAGCACCTGTAACTATTGAAGTGGAGGTCTGT... | GGTCATATAGTCTCCATTACATATTTTATTATATGCCTTCTTTGTTGGTTTATTTTTATTTTTACAACCCTTAAAATGTCTTAGAACCATTCTTAGCTCAAGGGTCATATGAAAACAACCCTCAGAGGCTGGAATCATCCTCCTGGTGGTAGTTTGCTGACCCCTGTCCTAGGTGCTGAAGTCTGGTTGGGCTTCAGAAGGTCAACATGATGGGCATCTGAAGGGCAGGTGTGAATATTCGCTGGGAAGTAAGAGACAAGAACTCACCCATGAAAACATCCCCCACCCAAGCACCTGTAACTATTGAAGTGGAGGTCTGT... |
Task1_train_9118 | A mutation on Chromosome 5 affecting OSMR (oncostatin M receptor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Amyloidosis, primary localized cutaneous, 1 | CAAAGCTTTCAAGACTATTGGCTTTAATGGGAAGAGGGAAGATAAATAACTGGAGGGGGATTTGGAGCCAAAGAAGGGCTTGGTTTTCTATGTCTGGTCTGATTCTGCACCCAGTTGTATGCACATGGATACAGGCATAGTTGAGAACTCTTGCTTCAAAGAACACTGCAGAGGCCAGTCCCTGCAGGCTTTGCTGGAGACAAGACAGTGGGGCCAGGTGTTTGCAACATGGAGGACTCCAAGGCTTCATGGAAGGAGGGAATATCGTGGGGATGAAATACAAAATTCCTGAAAGCCAATTATTAGGGGAGCACAAATTT... | CAAAGCTTTCAAGACTATTGGCTTTAATGGGAAGAGGGAAGATAAATAACTGGAGGGGGATTTGGAGCCAAAGAAGGGCTTGGTTTTCTATGTCTGGTCTGATTCTGCACCCAGTTGTATGCACATGGATACAGGCATAGTTGAGAACTCTTGCTTCAAAGAACACTGCAGAGGCCAGTCCCTGCAGGCTTTGCTGGAGACAAGACAGTGGGGCCAGGTGTTTGCAACATGGAGGACTCCAAGGCTTCATGGAAGGAGGGAATATCGTGGGGATGAAATACAAAATTCCTGAAAGCCAATTATTAGGGGAGCACAAATTT... |
Task1_train_9119 | This sequence variant lies in OSMR (oncostatin M receptor) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Amyloidosis, primary localized cutaneous, 1 | GAATTTATGGGTTATCTACAAAAAGGATTGCTTGTTTATTAGAGAAAAAAACAGGATACTCTCAGGAACTTGGTAAGTTTAAAGCATGTAATGTGCCCCATGTGCAGACTTGTTCAGAACAATTCATAGATTCCTAGCTTTGGGTTTAGGAAGCTGTCAGCACCATACCCAACTTTTGGTATCCCATTTATTCTAGCAATTGGGTTTTTAAAATTATTTTTTAATCATACAAACAAAACATTTTCATTAATTCTCATTGCTAAGTCTCTCTCTTTCTTCCTTTTTTCAGTCTCTTATACCCTATGTGAATAATCATCATT... | GAATTTATGGGTTATCTACAAAAAGGATTGCTTGTTTATTAGAGAAAAAAACAGGATACTCTCAGGAACTTGGTAAGTTTAAAGCATGTAATGTGCCCCATGTGCAGACTTGTTCAGAACAATTCATAGATTCCTAGCTTTGGGTTTAGGAAGCTGTCAGCACCATACCCAACTTTTGGTATCCCATTTATTCTAGCAATTGGGTTTTTAAAATTATTTTTTAATCATACAAACAAAACATTTTCATTAATTCTCATTGCTAAGTCTCTCTCTTTCTTCCTTTTTTCAGTCTCTTATACCCTATGTGAATAATCATCATT... |
Task1_train_9120 | With a mutation on Chromosome 5 in gene OSMR (oncostatin M receptor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Amyloidosis, primary localized cutaneous, 1 | CAAAAAGGATTGCTTGTTTATTAGAGAAAAAAACAGGATACTCTCAGGAACTTGGTAAGTTTAAAGCATGTAATGTGCCCCATGTGCAGACTTGTTCAGAACAATTCATAGATTCCTAGCTTTGGGTTTAGGAAGCTGTCAGCACCATACCCAACTTTTGGTATCCCATTTATTCTAGCAATTGGGTTTTTAAAATTATTTTTTAATCATACAAACAAAACATTTTCATTAATTCTCATTGCTAAGTCTCTCTCTTTCTTCCTTTTTTCAGTCTCTTATACCCTATGTGAATAATCATCATTTTAGCTGAATCTTTGTCC... | CAAAAAGGATTGCTTGTTTATTAGAGAAAAAAACAGGATACTCTCAGGAACTTGGTAAGTTTAAAGCATGTAATGTGCCCCATGTGCAGACTTGTTCAGAACAATTCATAGATTCCTAGCTTTGGGTTTAGGAAGCTGTCAGCACCATACCCAACTTTTGGTATCCCATTTATTCTAGCAATTGGGTTTTTAAAATTATTTTTTAATCATACAAACAAAACATTTTCATTAATTCTCATTGCTAAGTCTCTCTCTTTCTTCCTTTTTTCAGTCTCTTATACCCTATGTGAATAATCATCATTTTAGCTGAATCTTTGTCC... |
Task1_train_9121 | Located on Chromosome 5, this mutation impacts C9 (complement C9). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Complement component 9 deficiency | AAGCACTAGATTGAGACTTTAGACCGATGAGAGACAGAGTTAGCATACATTTATAAATCAATCATTCTAAAATTTAAATTAAATTCTAACTTACATATTTTGTCACCACATGATTGAGTTTCTAAGCCATTTGCTGAGAAGTGTAAAAAATTCATAAAATATTAAAAATTTATATTGTAAGAGATGAAAATATGGTTGAATGATAAACGAGGCTGTGAACTTTGGCTACATAATTGTTTTAGAATTTTGTTTCAGGAAACTGTATTTGTTCAAACAATGATTGCCATAGAAAGTTAATCTTAATAGCTAATCTTGTGATA... | AAGCACTAGATTGAGACTTTAGACCGATGAGAGACAGAGTTAGCATACATTTATAAATCAATCATTCTAAAATTTAAATTAAATTCTAACTTACATATTTTGTCACCACATGATTGAGTTTCTAAGCCATTTGCTGAGAAGTGTAAAAAATTCATAAAATATTAAAAATTTATATTGTAAGAGATGAAAATATGGTTGAATGATAAACGAGGCTGTGAACTTTGGCTACATAATTGTTTTAGAATTTTGTTTCAGGAAACTGTATTTGTTCAAACAATGATTGCCATAGAAAGTTAATCTTAATAGCTAATCTTGTGATA... |
Task1_train_9122 | This variant affects the gene OXCT1 (3-oxoacid CoA-transferase 1) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Succinyl-CoA acetoacetate transferase deficiency | AAGTACAAAGATTCAGAGAAGCACCCAGAAAATTTGGGGAGGGATAGGGAAGACTTGCTAGATTAGCTAGATTAGGGAAGATTAGCTAGATGGATGGGGTGGGAAGAATGTTCCAGACAGAGAAGGAGGATGTGCAAAGTCTCAAAAGAACATGGTCCAGGGAAGAATGGAATGTAGTTCACAGCATTTTAGCATGGCTCAAGTAGGGAGAAAGTTAAAGCAGAGAGAAATAGGCTAAAGGAGAAAAGGTACATACTGTGAAATGCTTCACAAGATATGTTAAAAGCTTGTATTTAATAACACCAAAAATCTTTCCCTGA... | AAGTACAAAGATTCAGAGAAGCACCCAGAAAATTTGGGGAGGGATAGGGAAGACTTGCTAGATTAGCTAGATTAGGGAAGATTAGCTAGATGGATGGGGTGGGAAGAATGTTCCAGACAGAGAAGGAGGATGTGCAAAGTCTCAAAAGAACATGGTCCAGGGAAGAATGGAATGTAGTTCACAGCATTTTAGCATGGCTCAAGTAGGGAGAAAGTTAAAGCAGAGAGAAATAGGCTAAAGGAGAAAAGGTACATACTGTGAAATGCTTCACAAGATATGTTAAAAGCTTGTATTTAATAACACCAAAAATCTTTCCCTGA... |
Task1_train_9123 | This mutation is located in gene OXCT1 (3-oxoacid CoA-transferase 1) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Succinyl-CoA acetoacetate transferase deficiency | TACAAAGATTCAGAGAAGCACCCAGAAAATTTGGGGAGGGATAGGGAAGACTTGCTAGATTAGCTAGATTAGGGAAGATTAGCTAGATGGATGGGGTGGGAAGAATGTTCCAGACAGAGAAGGAGGATGTGCAAAGTCTCAAAAGAACATGGTCCAGGGAAGAATGGAATGTAGTTCACAGCATTTTAGCATGGCTCAAGTAGGGAGAAAGTTAAAGCAGAGAGAAATAGGCTAAAGGAGAAAAGGTACATACTGTGAAATGCTTCACAAGATATGTTAAAAGCTTGTATTTAATAACACCAAAAATCTTTCCCTGACAC... | TACAAAGATTCAGAGAAGCACCCAGAAAATTTGGGGAGGGATAGGGAAGACTTGCTAGATTAGCTAGATTAGGGAAGATTAGCTAGATGGATGGGGTGGGAAGAATGTTCCAGACAGAGAAGGAGGATGTGCAAAGTCTCAAAAGAACATGGTCCAGGGAAGAATGGAATGTAGTTCACAGCATTTTAGCATGGCTCAAGTAGGGAGAAAGTTAAAGCAGAGAGAAATAGGCTAAAGGAGAAAAGGTACATACTGTGAAATGCTTCACAAGATATGTTAAAAGCTTGTATTTAATAACACCAAAAATCTTTCCCTGACAC... |
Task1_train_9124 | Mutation context: Chromosome 5, Gene OXCT1 (3-oxoacid CoA-transferase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | AAATGAAGATTCTCACTGAATCACATATTAGAACTATAATATAAATAACTTCCCTAAAAACCCTATAAATTTATCATCCGAAGACTTGAGGTAAACTTTTGAAAAATAATTCGGTTGTGTCCATGGCTCTGTTTCTTATGTTAGTCTTTTCTATACTAAAGTTGTGATTGGGCAAATGAAAAATATTTTCTAAAAATTACCAGTTTGAAAGAAATGCTATACTATTAGAAATACAAGTCCATAAAACAAAAAGTAATTATTTAGTCCCTACTATGAAAATGTATTAGAAATATAGGTCGGTAAAACTAATGTAGGCCAGG... | AAATGAAGATTCTCACTGAATCACATATTAGAACTATAATATAAATAACTTCCCTAAAAACCCTATAAATTTATCATCCGAAGACTTGAGGTAAACTTTTGAAAAATAATTCGGTTGTGTCCATGGCTCTGTTTCTTATGTTAGTCTTTTCTATACTAAAGTTGTGATTGGGCAAATGAAAAATATTTTCTAAAAATTACCAGTTTGAAAGAAATGCTATACTATTAGAAATACAAGTCCATAAAACAAAAAGTAATTATTTAGTCCCTACTATGAAAATGTATTAGAAATATAGGTCGGTAAAACTAATGTAGGCCAGG... |
Task1_train_9125 | Given a variant located on Chromosome 5 and affecting OXCT1 (3-oxoacid CoA-transferase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Succinyl-CoA acetoacetate transferase deficiency | TTAGAAAATAGCTAAGCAAATTATTGATTGCCATTTTGTTTCAAGAAGGCAAAGAGATATCTGTCATGTATCTTGACACCTTTGGATTATATGCCACATTTTGTAAAAAAAAAAAAAAAATTGATTAATTACCTTAAAAGTTACCATAGACTAGAGATGACTCACTATGCAAGAGGTCTAATAGCCTGATCAATATGGGAAAAGCAAAGGCTATGTCTTTGCCCGGGCTCAGAAGGATAAAGGATACCATACATGCCATCCTCAAACTCAAGAGCGGCCCTCTTGATGATTCGTTCCCTTACGTCATCTCCAGGTTTAGC... | TTAGAAAATAGCTAAGCAAATTATTGATTGCCATTTTGTTTCAAGAAGGCAAAGAGATATCTGTCATGTATCTTGACACCTTTGGATTATATGCCACATTTTGTAAAAAAAAAAAAAAAATTGATTAATTACCTTAAAAGTTACCATAGACTAGAGATGACTCACTATGCAAGAGGTCTAATAGCCTGATCAATATGGGAAAAGCAAAGGCTATGTCTTTGCCCGGGCTCAGAAGGATAAAGGATACCATACATGCCATCCTCAAACTCAAGAGCGGCCCTCTTGATGATTCGTTCCCTTACGTCATCTCCAGGTTTAGC... |
Task1_train_9126 | Here’s a variant in OXCT1 (3-oxoacid CoA-transferase 1) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Succinyl-CoA acetoacetate transferase deficiency | TCATATTTTCCATTAATAAAGTTTCATAAATATCTCATAAATTTTAAAAACCATAACTACTTTATTCAATGTATATAGTTTTGTTTTGAACAGGATTGAGGGAAAGAGGAACTATTTTTCACATTCAACATATAGCTACAACAAAAAAAGGAATATTAATAAATCTATCTTATTTGAAGTTAATTTCCCTTAATCTTTTAACAAGTATGCTTTGTCCCTATTAGTTAAATATTTCATTCAACCACTTGCTTTCATTAAAATATTAAGAAAGGAAAAGTAGCAAATGCTTCACATGAGAAGGTACAGTAATTACATTCTCT... | TCATATTTTCCATTAATAAAGTTTCATAAATATCTCATAAATTTTAAAAACCATAACTACTTTATTCAATGTATATAGTTTTGTTTTGAACAGGATTGAGGGAAAGAGGAACTATTTTTCACATTCAACATATAGCTACAACAAAAAAAGGAATATTAATAAATCTATCTTATTTGAAGTTAATTTCCCTTAATCTTTTAACAAGTATGCTTTGTCCCTATTAGTTAAATATTTCATTCAACCACTTGCTTTCATTAAAATATTAAGAAAGGAAAAGTAGCAAATGCTTCACATGAGAAGGTACAGTAATTACATTCTCT... |
Task1_train_9127 | This sequence change occurs on Chromosome 5, altering GHR (growth hormone receptor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Growth hormone insensitivity syndrome | TCTCTGTTTGCAGATGACATGATTGTATATTTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACGAAATCAAAGTGCAAAAATCACAAGCATTCCTATACACCAGTAACAGACAGAGAGCCAAATCACGAGCAAACTCCCATTCACAATTGCTACAAAGAGAATAAAATACCTAGGAATACAACTTACAAAGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAGAGAGGACACAAACAAATGGAAAAACATCCTCATGGAT... | TCTCTGTTTGCAGATGACATGATTGTATATTTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACGAAATCAAAGTGCAAAAATCACAAGCATTCCTATACACCAGTAACAGACAGAGAGCCAAATCACGAGCAAACTCCCATTCACAATTGCTACAAAGAGAATAAAATACCTAGGAATACAACTTACAAAGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAGAGAGGACACAAACAAATGGAAAAACATCCTCATGGAT... |
Task1_train_9128 | Given a variant located on Chromosome 5 and affecting GHR (growth hormone receptor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Laron-type isolated somatotropin defect | ACTTAATTTGAAAGTAAATATCAAATTAAGCATACTATAGTTCAATGAACCACCCACCTATTCCTAATTTTTTTAACATTTCTCTTCTGACTCTACATACACACATACTTACACACACACACACAAACACACCTTATCTTTTCTTCTGCCTTTTGCCCATTTACTTTTTGCATCAGAGATGAATCTCTCATTCAAGCATATGCAACTTTTTTTTTTTTTGAGATGGAGTCTTGCTTTGGCACCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTTACTGCAAACTTTGCCTCCTGCGTTCAAGCAATTCTCCTGCCTCAG... | ACTTAATTTGAAAGTAAATATCAAATTAAGCATACTATAGTTCAATGAACCACCCACCTATTCCTAATTTTTTTAACATTTCTCTTCTGACTCTACATACACACATACTTACACACACACACACAAACACACCTTATCTTTTCTTCTGCCTTTTGCCCATTTACTTTTTGCATCAGAGATGAATCTCTCATTCAAGCATATGCAACTTTTTTTTTTTTTGAGATGGAGTCTTGCTTTGGCACCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTTACTGCAAACTTTGCCTCCTGCGTTCAAGCAATTCTCCTGCCTCAG... |
Task1_train_9129 | Here is a mutation in GHR (growth hormone receptor) on Chromosome 5. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Laron-type isolated somatotropin defect | TTTGAAAGTAAATATCAAATTAAGCATACTATAGTTCAATGAACCACCCACCTATTCCTAATTTTTTTAACATTTCTCTTCTGACTCTACATACACACATACTTACACACACACACACAAACACACCTTATCTTTTCTTCTGCCTTTTGCCCATTTACTTTTTGCATCAGAGATGAATCTCTCATTCAAGCATATGCAACTTTTTTTTTTTTTGAGATGGAGTCTTGCTTTGGCACCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTTACTGCAAACTTTGCCTCCTGCGTTCAAGCAATTCTCCTGCCTCAGCCTACC... | TTTGAAAGTAAATATCAAATTAAGCATACTATAGTTCAATGAACCACCCACCTATTCCTAATTTTTTTAACATTTCTCTTCTGACTCTACATACACACATACTTACACACACACACACAAACACACCTTATCTTTTCTTCTGCCTTTTGCCCATTTACTTTTTGCATCAGAGATGAATCTCTCATTCAAGCATATGCAACTTTTTTTTTTTTTGAGATGGAGTCTTGCTTTGGCACCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTTACTGCAAACTTTGCCTCCTGCGTTCAAGCAATTCTCCTGCCTCAGCCTACC... |
Task1_train_9130 | This mutation occurs in GHR (growth hormone receptor) on Chromosome 5. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Growth hormone insensitivity syndrome | GTGTTAGGATAATCACTGTGTCAGTTCGCTTGAGGATTGCATGGAGAATAGACTGGAGGGGGACAAAGACCAAAGGGGTACAGTGGGGAGACAAATGAAGCAAGAAGAATGAAAAAGGATAATGGCCAGGACCAGGTTATTAGTGGTGCAGGCGGTGGGACATGGTTGGATTCTGTTATATCTTGAAAGTACAGCTGACGGAATGTGGATTAGTGAGGAAAAGATGAGCCAAGGACAAGTTCATTGTTTTTATCCTGAGCAACTAGAGGAATTGAGTCCTCGTTAACAGAGATGGAAAAGAGGAAAGGAGAGCAGGTTTT... | GTGTTAGGATAATCACTGTGTCAGTTCGCTTGAGGATTGCATGGAGAATAGACTGGAGGGGGACAAAGACCAAAGGGGTACAGTGGGGAGACAAATGAAGCAAGAAGAATGAAAAAGGATAATGGCCAGGACCAGGTTATTAGTGGTGCAGGCGGTGGGACATGGTTGGATTCTGTTATATCTTGAAAGTACAGCTGACGGAATGTGGATTAGTGAGGAAAAGATGAGCCAAGGACAAGTTCATTGTTTTTATCCTGAGCAACTAGAGGAATTGAGTCCTCGTTAACAGAGATGGAAAAGAGGAAAGGAGAGCAGGTTTT... |
Task1_train_9131 | A mutation found in GHR (growth hormone receptor) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | AGACCAAAGGGGTACAGTGGGGAGACAAATGAAGCAAGAAGAATGAAAAAGGATAATGGCCAGGACCAGGTTATTAGTGGTGCAGGCGGTGGGACATGGTTGGATTCTGTTATATCTTGAAAGTACAGCTGACGGAATGTGGATTAGTGAGGAAAAGATGAGCCAAGGACAAGTTCATTGTTTTTATCCTGAGCAACTAGAGGAATTGAGTCCTCGTTAACAGAGATGGAAAAGAGGAAAGGAGAGCAGGTTTTGGAGAGGAAGAGCAAGGGTTTGTTTGGGGATATATTAAGTTTCAGATATTTTTTAAATATCTCACA... | AGACCAAAGGGGTACAGTGGGGAGACAAATGAAGCAAGAAGAATGAAAAAGGATAATGGCCAGGACCAGGTTATTAGTGGTGCAGGCGGTGGGACATGGTTGGATTCTGTTATATCTTGAAAGTACAGCTGACGGAATGTGGATTAGTGAGGAAAAGATGAGCCAAGGACAAGTTCATTGTTTTTATCCTGAGCAACTAGAGGAATTGAGTCCTCGTTAACAGAGATGGAAAAGAGGAAAGGAGAGCAGGTTTTGGAGAGGAAGAGCAAGGGTTTGTTTGGGGATATATTAAGTTTCAGATATTTTTTAAATATCTCACA... |
Task1_train_9132 | The following genetic variant occurs in GHR (growth hormone receptor) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Laron-type isolated somatotropin defect | CCAAAGGGGTACAGTGGGGAGACAAATGAAGCAAGAAGAATGAAAAAGGATAATGGCCAGGACCAGGTTATTAGTGGTGCAGGCGGTGGGACATGGTTGGATTCTGTTATATCTTGAAAGTACAGCTGACGGAATGTGGATTAGTGAGGAAAAGATGAGCCAAGGACAAGTTCATTGTTTTTATCCTGAGCAACTAGAGGAATTGAGTCCTCGTTAACAGAGATGGAAAAGAGGAAAGGAGAGCAGGTTTTGGAGAGGAAGAGCAAGGGTTTGTTTGGGGATATATTAAGTTTCAGATATTTTTTAAATATCTCACAGGA... | CCAAAGGGGTACAGTGGGGAGACAAATGAAGCAAGAAGAATGAAAAAGGATAATGGCCAGGACCAGGTTATTAGTGGTGCAGGCGGTGGGACATGGTTGGATTCTGTTATATCTTGAAAGTACAGCTGACGGAATGTGGATTAGTGAGGAAAAGATGAGCCAAGGACAAGTTCATTGTTTTTATCCTGAGCAACTAGAGGAATTGAGTCCTCGTTAACAGAGATGGAAAAGAGGAAAGGAGAGCAGGTTTTGGAGAGGAAGAGCAAGGGTTTGTTTGGGGATATATTAAGTTTCAGATATTTTTTAAATATCTCACAGGA... |
Task1_train_9133 | Here is a variant affecting GHR (growth hormone receptor) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Laron-type isolated somatotropin defect | AAGGGGTACAGTGGGGAGACAAATGAAGCAAGAAGAATGAAAAAGGATAATGGCCAGGACCAGGTTATTAGTGGTGCAGGCGGTGGGACATGGTTGGATTCTGTTATATCTTGAAAGTACAGCTGACGGAATGTGGATTAGTGAGGAAAAGATGAGCCAAGGACAAGTTCATTGTTTTTATCCTGAGCAACTAGAGGAATTGAGTCCTCGTTAACAGAGATGGAAAAGAGGAAAGGAGAGCAGGTTTTGGAGAGGAAGAGCAAGGGTTTGTTTGGGGATATATTAAGTTTCAGATATTTTTTAAATATCTCACAGGAGTT... | AAGGGGTACAGTGGGGAGACAAATGAAGCAAGAAGAATGAAAAAGGATAATGGCCAGGACCAGGTTATTAGTGGTGCAGGCGGTGGGACATGGTTGGATTCTGTTATATCTTGAAAGTACAGCTGACGGAATGTGGATTAGTGAGGAAAAGATGAGCCAAGGACAAGTTCATTGTTTTTATCCTGAGCAACTAGAGGAATTGAGTCCTCGTTAACAGAGATGGAAAAGAGGAAAGGAGAGCAGGTTTTGGAGAGGAAGAGCAAGGGTTTGTTTGGGGATATATTAAGTTTCAGATATTTTTTAAATATCTCACAGGAGTT... |
Task1_train_9134 | Here is a variant affecting GHR (growth hormone receptor) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Short stature due to partial GHR deficiency | AAAGGATAATGGCCAGGACCAGGTTATTAGTGGTGCAGGCGGTGGGACATGGTTGGATTCTGTTATATCTTGAAAGTACAGCTGACGGAATGTGGATTAGTGAGGAAAAGATGAGCCAAGGACAAGTTCATTGTTTTTATCCTGAGCAACTAGAGGAATTGAGTCCTCGTTAACAGAGATGGAAAAGAGGAAAGGAGAGCAGGTTTTGGAGAGGAAGAGCAAGGGTTTGTTTGGGGATATATTAAGTTTCAGATATTTTTTAAATATCTCACAGGAGTTGTCAATATAGCATGTAGATTTATGTATAGAGATAAAGGAGA... | AAAGGATAATGGCCAGGACCAGGTTATTAGTGGTGCAGGCGGTGGGACATGGTTGGATTCTGTTATATCTTGAAAGTACAGCTGACGGAATGTGGATTAGTGAGGAAAAGATGAGCCAAGGACAAGTTCATTGTTTTTATCCTGAGCAACTAGAGGAATTGAGTCCTCGTTAACAGAGATGGAAAAGAGGAAAGGAGAGCAGGTTTTGGAGAGGAAGAGCAAGGGTTTGTTTGGGGATATATTAAGTTTCAGATATTTTTTAAATATCTCACAGGAGTTGTCAATATAGCATGTAGATTTATGTATAGAGATAAAGGAGA... |
Task1_train_9135 | An alteration has been detected in GHR (growth hormone receptor) on Chromosome 5. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Laron syndrome with elevated serum GH-binding protein | TATATTAACATCAGATATCAGGATGAGAGACCTTGAGCTCACTATCTGTAACAGATATTGTTCATTGCAAAAGCAGAAGGAAGATTTAGTTTCCAAATTTTTCATTCAGGAGAAGTCCGGGGGGCAGGTGGAAGTTTAGAGACAGGAATTTGGTGGCAATCTCCGGATGGTAGAATTCAGATGATTCTTTTCTTTATATATTTTTATATTTCTGAAATTTTCTATAGTAAGTTTGTTTTGAATTTATAATCAGGAAAAAAAGCTGTACTGATGGTTAGGGAAGAAAGTATGTATCTATATGGATGGATAGATATGTGACA... | TATATTAACATCAGATATCAGGATGAGAGACCTTGAGCTCACTATCTGTAACAGATATTGTTCATTGCAAAAGCAGAAGGAAGATTTAGTTTCCAAATTTTTCATTCAGGAGAAGTCCGGGGGGCAGGTGGAAGTTTAGAGACAGGAATTTGGTGGCAATCTCCGGATGGTAGAATTCAGATGATTCTTTTCTTTATATATTTTTATATTTCTGAAATTTTCTATAGTAAGTTTGTTTTGAATTTATAATCAGGAAAAAAAGCTGTACTGATGGTTAGGGAAGAAAGTATGTATCTATATGGATGGATAGATATGTGACA... |
Task1_train_9136 | A mutation on Chromosome 5 affecting NNT (nicotinamide nucleotide transhydrogenase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Glucocorticoid deficiency 4 | TTCTTAGGTTTTATATTTTAGCATAGGAAATATGTCATAGATTCTACTTTGTGTTTTAGCTGCACACTTTTAAATTTATTTAGCCTGTAAGGGAGTTATATTATGCAATGTGTGACTTAAAATTTTATCTAGAAAATGTATAATGTAAAGTTTTAAGGGTGCTGTTGATTCTGAAATACACATATGTGAAAGAATATCAAAACCAGTCGCTCTAGATCAAGTGGTTTTAGCTGTTGAATCTTTTGAGCAAATGAAATATTATGAGACAATATAAATAAATCCAGTAAGAGCTGAGTAGCTTTGGGTACACTGAGTATGGC... | TTCTTAGGTTTTATATTTTAGCATAGGAAATATGTCATAGATTCTACTTTGTGTTTTAGCTGCACACTTTTAAATTTATTTAGCCTGTAAGGGAGTTATATTATGCAATGTGTGACTTAAAATTTTATCTAGAAAATGTATAATGTAAAGTTTTAAGGGTGCTGTTGATTCTGAAATACACATATGTGAAAGAATATCAAAACCAGTCGCTCTAGATCAAGTGGTTTTAGCTGTTGAATCTTTTGAGCAAATGAAATATTATGAGACAATATAAATAAATCCAGTAAGAGCTGAGTAGCTTTGGGTACACTGAGTATGGC... |
Task1_train_9137 | Located on Chromosome 5, this mutation impacts NNT (nicotinamide nucleotide transhydrogenase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY | AAGGTCCAATGGTGCAGTTTTGAGAGGGCATGTTAGAAAAAGCACTTCACCCAGGGTGAGAGGCATTTAGTCCCAGGAGCCTTAGGATTTGGACTTTATCTCAAAACTATACAGTTTGTAGCAAAAAGAAGGAAGTACTACATAAACACTTCACTTGTATCTTCACAACCTTTTATTTCCACATGTACTACAAATGTTATTTTTCCTTTTTGAATCAAATTCTGTAAACACAGAATTGAAAGCTTTCAGAAGAACTAAAGATAATCAGGCTACTAATGCTCTGCTTTCTTTTTATAAAAAATATGTATATTTTAAAGAGA... | AAGGTCCAATGGTGCAGTTTTGAGAGGGCATGTTAGAAAAAGCACTTCACCCAGGGTGAGAGGCATTTAGTCCCAGGAGCCTTAGGATTTGGACTTTATCTCAAAACTATACAGTTTGTAGCAAAAAGAAGGAAGTACTACATAAACACTTCACTTGTATCTTCACAACCTTTTATTTCCACATGTACTACAAATGTTATTTTTCCTTTTTGAATCAAATTCTGTAAACACAGAATTGAAAGCTTTCAGAAGAACTAAAGATAATCAGGCTACTAATGCTCTGCTTTCTTTTTATAAAAAATATGTATATTTTAAAGAGA... |
Task1_train_9138 | A variant has been detected on Chromosome 5 in NNT (nicotinamide nucleotide transhydrogenase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Glucocorticoid deficiency 4 | TTGCACTTATTTGTTAAAAAAACAAAAGAAATGAGGTTATTGTGTTGTACATGGAACATATTATGAGTAGGATTGTAAATTTCCATTTCTCTTTCAGATTCATAAGGAAATGTAGCAAGGCACATATAATGATTTATTTTTCTCAGTTTCTCTTATATTTCTTGAATCAGGGCATATTGCTTCTTAATATATATGACAGTGGCATATTCCAGTGAATGAAAGGATGAACTTATATGTGTTTTTCTTTATCTTGAACTCCCTCTTTCATATTAAAAATAAGTATTTTTCTTTTATATGTATCAGGAATGTATTTGAACAGC... | TTGCACTTATTTGTTAAAAAAACAAAAGAAATGAGGTTATTGTGTTGTACATGGAACATATTATGAGTAGGATTGTAAATTTCCATTTCTCTTTCAGATTCATAAGGAAATGTAGCAAGGCACATATAATGATTTATTTTTCTCAGTTTCTCTTATATTTCTTGAATCAGGGCATATTGCTTCTTAATATATATGACAGTGGCATATTCCAGTGAATGAAAGGATGAACTTATATGTGTTTTTCTTTATCTTGAACTCCCTCTTTCATATTAAAAATAAGTATTTTTCTTTTATATGTATCAGGAATGTATTTGAACAGC... |
Task1_train_9139 | Here is a genetic alteration in NNT (nicotinamide nucleotide transhydrogenase) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Glucocorticoid deficiency 4 | AACTTATTTATCTGGCTTAATATGGATGAATATATTATATAATATATAATCTTGTATTAAGACTGAATATATTAATATATGAAAATATATATATATTGCAAATCCTCAAATAACGTCATTTTGTTCAGTATCATTTTGTTACCACTTTGATGAGAAAAAAAATCAATTCCCAGCTGGGGCCATTGTCTCTGTGGGGTCTGCACATTCTTACCATGCCTGTGTGGGTTTTCTCTGGATTCTCTGCTTTCCTCTCATATCTCAAAGATGTTCATGTTAGGTGAATTGATGTGTCTACGTGGTTCCAGTCTGAGTGAGTGTGG... | AACTTATTTATCTGGCTTAATATGGATGAATATATTATATAATATATAATCTTGTATTAAGACTGAATATATTAATATATGAAAATATATATATATTGCAAATCCTCAAATAACGTCATTTTGTTCAGTATCATTTTGTTACCACTTTGATGAGAAAAAAAATCAATTCCCAGCTGGGGCCATTGTCTCTGTGGGGTCTGCACATTCTTACCATGCCTGTGTGGGTTTTCTCTGGATTCTCTGCTTTCCTCTCATATCTCAAAGATGTTCATGTTAGGTGAATTGATGTGTCTACGTGGTTCCAGTCTGAGTGAGTGTGG... |
Task1_train_9140 | Consider a variant on Chromosome 5 in gene NNT (nicotinamide nucleotide transhydrogenase). Determine its clinical classification and disease relevance. | Pathogenic; Glucocorticoid deficiency 4 | CTGTTGATAATTTAGTGTCTGATTCTTGCCAGTCTCTGAGATTTTACTGGTTTTCAATTGTACTAACGTATGACTGGTGAAGTAATTTTCTCTTTCTTTTCTTTTTAAAAAGTACTAGAATTTCCCTAGATAAGGTGCTGTACGTTATAGCTGTCATAGGGTAGATGTTGAATGGTAATGACATTTGGCCCAAGCCTATGCTTGTTAAAATTAAACCACTTCCCTCTGGCAAATATCCACTGTAAACTTAAAAAAGGCTGTTTATTAGAAAAAGTATTGAAATTGTGTGTATGTCTAGATTCACATAGCATTTTTTTGGC... | CTGTTGATAATTTAGTGTCTGATTCTTGCCAGTCTCTGAGATTTTACTGGTTTTCAATTGTACTAACGTATGACTGGTGAAGTAATTTTCTCTTTCTTTTCTTTTTAAAAAGTACTAGAATTTCCCTAGATAAGGTGCTGTACGTTATAGCTGTCATAGGGTAGATGTTGAATGGTAATGACATTTGGCCCAAGCCTATGCTTGTTAAAATTAAACCACTTCCCTCTGGCAAATATCCACTGTAAACTTAAAAAAGGCTGTTTATTAGAAAAAGTATTGAAATTGTGTGTATGTCTAGATTCACATAGCATTTTTTTGGC... |
Task1_train_9141 | Given a variant located on Chromosome 5 and affecting NNT (nicotinamide nucleotide transhydrogenase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Glucocorticoid deficiency 4 | GATAATTTAGTGTCTGATTCTTGCCAGTCTCTGAGATTTTACTGGTTTTCAATTGTACTAACGTATGACTGGTGAAGTAATTTTCTCTTTCTTTTCTTTTTAAAAAGTACTAGAATTTCCCTAGATAAGGTGCTGTACGTTATAGCTGTCATAGGGTAGATGTTGAATGGTAATGACATTTGGCCCAAGCCTATGCTTGTTAAAATTAAACCACTTCCCTCTGGCAAATATCCACTGTAAACTTAAAAAAGGCTGTTTATTAGAAAAAGTATTGAAATTGTGTGTATGTCTAGATTCACATAGCATTTTTTTGGCAACAG... | GATAATTTAGTGTCTGATTCTTGCCAGTCTCTGAGATTTTACTGGTTTTCAATTGTACTAACGTATGACTGGTGAAGTAATTTTCTCTTTCTTTTCTTTTTAAAAAGTACTAGAATTTCCCTAGATAAGGTGCTGTACGTTATAGCTGTCATAGGGTAGATGTTGAATGGTAATGACATTTGGCCCAAGCCTATGCTTGTTAAAATTAAACCACTTCCCTCTGGCAAATATCCACTGTAAACTTAAAAAAGGCTGTTTATTAGAAAAAGTATTGAAATTGTGTGTATGTCTAGATTCACATAGCATTTTTTTGGCAACAG... |
Task1_train_9142 | A variant has been detected on Chromosome 5 in FGF10 (fibroblast growth factor 10). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Lacrimoauriculodentodigital syndrome 3 | AGCAAAGTATGATGAAATGCAATTTAAACTATAAGCCAAAAGACAGTGCCTCAAATGTGTTTCTTCTGAAATACAGTTTTTTTGAAGAATGGGAAAAATATGACCTTTTATGGGATTATACAAAAAATTTCTTAATAAAGCAATTTTTAAAAATAACAGATTAACTGGAAGTGCTGGTTAAGTATTGACACAAATAAGTTTGTTGGAGAATCACAGAACGCCAGCATTTCCAAAGGTTAAACTTTAGTAAGACACATTTAGTGAGTCTTTTTTTTTGTACCAAAATACTGTGTCCAAACAATAAAATGCTTTTTCAAAAC... | AGCAAAGTATGATGAAATGCAATTTAAACTATAAGCCAAAAGACAGTGCCTCAAATGTGTTTCTTCTGAAATACAGTTTTTTTGAAGAATGGGAAAAATATGACCTTTTATGGGATTATACAAAAAATTTCTTAATAAAGCAATTTTTAAAAATAACAGATTAACTGGAAGTGCTGGTTAAGTATTGACACAAATAAGTTTGTTGGAGAATCACAGAACGCCAGCATTTCCAAAGGTTAAACTTTAGTAAGACACATTTAGTGAGTCTTTTTTTTTGTACCAAAATACTGTGTCCAAACAATAAAATGCTTTTTCAAAAC... |
Task1_train_9143 | Mutation context: Chromosome 5, Gene FGF10 (fibroblast growth factor 10). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Congenital absence of salivary gland | TTCTTCCTTAATCTAAATTAGTGTTAGCTGGCTTTAGGACGTTGGGTCTAGACTAAGTATGTGTGTTGTTATCTCTTCAAAGAATATGTACCTGGTTCTCTTCCCCAATAATTCTGATATAGTAGATCAAGGAAGAACCTGGACATGTTTAATGAAAACATTAAACATGCCTCAAAAGAGATTATGATGTGAACCCCTAAATGGAACCACTTTTTATAATGGTCTGTTATTCCTCTGGGTTCATTAGGGGAGCAATGGTAATGGAGAAATTTTACTAAAATTCCTCTGACCCCCATGCAAAAAAAAGCATTTGCCCTAGT... | TTCTTCCTTAATCTAAATTAGTGTTAGCTGGCTTTAGGACGTTGGGTCTAGACTAAGTATGTGTGTTGTTATCTCTTCAAAGAATATGTACCTGGTTCTCTTCCCCAATAATTCTGATATAGTAGATCAAGGAAGAACCTGGACATGTTTAATGAAAACATTAAACATGCCTCAAAAGAGATTATGATGTGAACCCCTAAATGGAACCACTTTTTATAATGGTCTGTTATTCCTCTGGGTTCATTAGGGGAGCAATGGTAATGGAGAAATTTTACTAAAATTCCTCTGACCCCCATGCAAAAAAAAGCATTTGCCCTAGT... |
Task1_train_9144 | This variant lies on Chromosome 5 and affects the gene FGF10 (fibroblast growth factor 10). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Lacrimoauriculodentodigital syndrome 3 | ATAGCACAAACATTTTTTAAAAAGAAAAATGTTTGCTCAAGGATAACACTCTGAAACTTTATCATATTCTTTTGAGTTTTCTCCATGAAAAATAAGAAATGAGTCCATCAGAATTTTTTGTTGTTGTTGTTAATTCCCAGCTCACTCTGTCCAGCCCAATGTTTGGATAGCTTCTTCCCCATCCTGCTAACTGAATGACACCACAACTATTTTATTTTAGAAGTAAATAAAGTTTTTAAATTTTTAATCGAAAAACCTTAAAGGTTATATACATAGGATCTAATGAATTCGGGTAACAAATGATTTTTAAGCAAAAATAA... | ATAGCACAAACATTTTTTAAAAAGAAAAATGTTTGCTCAAGGATAACACTCTGAAACTTTATCATATTCTTTTGAGTTTTCTCCATGAAAAATAAGAAATGAGTCCATCAGAATTTTTTGTTGTTGTTGTTAATTCCCAGCTCACTCTGTCCAGCCCAATGTTTGGATAGCTTCTTCCCCATCCTGCTAACTGAATGACACCACAACTATTTTATTTTAGAAGTAAATAAAGTTTTTAAATTTTTAATCGAAAAACCTTAAAGGTTATATACATAGGATCTAATGAATTCGGGTAACAAATGATTTTTAAGCAAAAATAA... |
Task1_train_9145 | Assess the clinical impact of this variant on gene FGF10 (fibroblast growth factor 10), found on Chromosome 5. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Inborn genetic diseases | TTTCTCCATGAAAAATAAGAAATGAGTCCATCAGAATTTTTTGTTGTTGTTGTTAATTCCCAGCTCACTCTGTCCAGCCCAATGTTTGGATAGCTTCTTCCCCATCCTGCTAACTGAATGACACCACAACTATTTTATTTTAGAAGTAAATAAAGTTTTTAAATTTTTAATCGAAAAACCTTAAAGGTTATATACATAGGATCTAATGAATTCGGGTAACAAATGATTTTTAAGCAAAAATAATTGTCATCATTATGACATTATTTCAGCTACTTTCTTTGAATCAGATAATGTGGTACTTAATATCTTTAGTATGAAAC... | TTTCTCCATGAAAAATAAGAAATGAGTCCATCAGAATTTTTTGTTGTTGTTGTTAATTCCCAGCTCACTCTGTCCAGCCCAATGTTTGGATAGCTTCTTCCCCATCCTGCTAACTGAATGACACCACAACTATTTTATTTTAGAAGTAAATAAAGTTTTTAAATTTTTAATCGAAAAACCTTAAAGGTTATATACATAGGATCTAATGAATTCGGGTAACAAATGATTTTTAAGCAAAAATAATTGTCATCATTATGACATTATTTCAGCTACTTTCTTTGAATCAGATAATGTGGTACTTAATATCTTTAGTATGAAAC... |
Task1_train_9146 | This variant affects the gene FGF10 (fibroblast growth factor 10) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Levy-Hollister syndrome | TTTCTCCATGAAAAATAAGAAATGAGTCCATCAGAATTTTTTGTTGTTGTTGTTAATTCCCAGCTCACTCTGTCCAGCCCAATGTTTGGATAGCTTCTTCCCCATCCTGCTAACTGAATGACACCACAACTATTTTATTTTAGAAGTAAATAAAGTTTTTAAATTTTTAATCGAAAAACCTTAAAGGTTATATACATAGGATCTAATGAATTCGGGTAACAAATGATTTTTAAGCAAAAATAATTGTCATCATTATGACATTATTTCAGCTACTTTCTTTGAATCAGATAATGTGGTACTTAATATCTTTAGTATGAAAC... | TTTCTCCATGAAAAATAAGAAATGAGTCCATCAGAATTTTTTGTTGTTGTTGTTAATTCCCAGCTCACTCTGTCCAGCCCAATGTTTGGATAGCTTCTTCCCCATCCTGCTAACTGAATGACACCACAACTATTTTATTTTAGAAGTAAATAAAGTTTTTAAATTTTTAATCGAAAAACCTTAAAGGTTATATACATAGGATCTAATGAATTCGGGTAACAAATGATTTTTAAGCAAAAATAATTGTCATCATTATGACATTATTTCAGCTACTTTCTTTGAATCAGATAATGTGGTACTTAATATCTTTAGTATGAAAC... |
Task1_train_9147 | This mutation occurs in HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1) on Chromosome 5. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 10 | CAGTGCACACCTGCAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGATTCTGTCTTAAAAAAAAAAAAAAATTAACTGCAATAAGTTAGATGAAAGTGAAGCTGTATCAGATTAACAGAAATTATCTAGTGAAATATCCTGATTTTAATGTTTTCTCTAAGGATGTCTAGCTGGTTTAGGAAGAAACTCATTGCTTAGAAATTAGTCTCTGTCTCTAACATAAACACTCACACACTACAAA... | CAGTGCACACCTGCAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGATTCTGTCTTAAAAAAAAAAAAAAATTAACTGCAATAAGTTAGATGAAAGTGAAGCTGTATCAGATTAACAGAAATTATCTAGTGAAATATCCTGATTTTAATGTTTTCTCTAAGGATGTCTAGCTGGTTTAGGAAGAAACTCATTGCTTAGAAATTAGTCTCTGTCTCTAACATAAACACTCACACACTACAAA... |
Task1_train_9148 | A variant found in Chromosome 5 affects HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Developmental and epileptic encephalopathy, 24 | AGCTACTAGGGAGGCTGAGGTGGGAGAATCACTTGAGCCTGCAGAGCAAGGTTGCAGTGAGCCATAATCATGCCAGTGCACTTCAGCCTAGGTGACAGAGAGATACCCTGTCATTTAAAAAAAAAAAAAAAAAAGAAAGAAAAGCATTTCCATTATTTCCCAGTGTGTAAAACCCGCTTACAGAACATAAAATCTTTAATGCCCTAAGAAAAAATAGGCAGATTTAAATCAACAATAATGAGGATCAAAATAATGACAGATATTGTAAATGCAATTAAGAAACAAGCAACAAATTAGGAGAAAATAGTTGCATCATATAA... | AGCTACTAGGGAGGCTGAGGTGGGAGAATCACTTGAGCCTGCAGAGCAAGGTTGCAGTGAGCCATAATCATGCCAGTGCACTTCAGCCTAGGTGACAGAGAGATACCCTGTCATTTAAAAAAAAAAAAAAAAAAGAAAGAAAAGCATTTCCATTATTTCCCAGTGTGTAAAACCCGCTTACAGAACATAAAATCTTTAATGCCCTAAGAAAAAATAGGCAGATTTAAATCAACAATAATGAGGATCAAAATAATGACAGATATTGTAAATGCAATTAAGAAACAAGCAACAAATTAGGAGAAAATAGTTGCATCATATAA... |
Task1_train_9149 | The gene HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 10 | TGGAACAGAACAGAGCCTTCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAAGTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTTCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGACATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAA... | TGGAACAGAACAGAGCCTTCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAAGTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTTCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGACATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAA... |
Task1_train_9150 | The gene HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Generalized epilepsy with febrile seizures plus, type 10 | TAAATTGAAATTTAAACATATACTTTTCATAAAAAGTAAAATTTTTAAAAAGTAACATAATGTCCTTAAGACCTATCCTGGATTACACTGACTAAAAAATGAGTACAGAACTTTAGAACTAAACTTCTTGGCAGAACTTGGTTTGTAGACCTAAAATTTATTCTTTTAATACAAAAATTAGTCAGGCGTGGTGGCAGGTGCCTGGAATCCCAACTACTTGGGAGACTGAGGCAAGAGAATCATTTGAACCCCGAAGGTAGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGACTCCATT... | TAAATTGAAATTTAAACATATACTTTTCATAAAAAGTAAAATTTTTAAAAAGTAACATAATGTCCTTAAGACCTATCCTGGATTACACTGACTAAAAAATGAGTACAGAACTTTAGAACTAAACTTCTTGGCAGAACTTGGTTTGTAGACCTAAAATTTATTCTTTTAATACAAAAATTAGTCAGGCGTGGTGGCAGGTGCCTGGAATCCCAACTACTTGGGAGACTGAGGCAAGAGAATCATTTGAACCCCGAAGGTAGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGACTCCATT... |
Task1_train_9151 | A variant on Chromosome 5 in gene HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TAAACATATACTTTTCATAAAAAGTAAAATTTTTAAAAAGTAACATAATGTCCTTAAGACCTATCCTGGATTACACTGACTAAAAAATGAGTACAGAACTTTAGAACTAAACTTCTTGGCAGAACTTGGTTTGTAGACCTAAAATTTATTCTTTTAATACAAAAATTAGTCAGGCGTGGTGGCAGGTGCCTGGAATCCCAACTACTTGGGAGACTGAGGCAAGAGAATCATTTGAACCCCGAAGGTAGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGACTCCATTTCAAAAAAAAAA... | TAAACATATACTTTTCATAAAAAGTAAAATTTTTAAAAAGTAACATAATGTCCTTAAGACCTATCCTGGATTACACTGACTAAAAAATGAGTACAGAACTTTAGAACTAAACTTCTTGGCAGAACTTGGTTTGTAGACCTAAAATTTATTCTTTTAATACAAAAATTAGTCAGGCGTGGTGGCAGGTGCCTGGAATCCCAACTACTTGGGAGACTGAGGCAAGAGAATCATTTGAACCCCGAAGGTAGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGACTCCATTTCAAAAAAAAAA... |
Task1_train_9152 | This genomic variant is located on Chromosome 5, within the HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AAACATATACTTTTCATAAAAAGTAAAATTTTTAAAAAGTAACATAATGTCCTTAAGACCTATCCTGGATTACACTGACTAAAAAATGAGTACAGAACTTTAGAACTAAACTTCTTGGCAGAACTTGGTTTGTAGACCTAAAATTTATTCTTTTAATACAAAAATTAGTCAGGCGTGGTGGCAGGTGCCTGGAATCCCAACTACTTGGGAGACTGAGGCAAGAGAATCATTTGAACCCCGAAGGTAGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGACTCCATTTCAAAAAAAAAAA... | AAACATATACTTTTCATAAAAAGTAAAATTTTTAAAAAGTAACATAATGTCCTTAAGACCTATCCTGGATTACACTGACTAAAAAATGAGTACAGAACTTTAGAACTAAACTTCTTGGCAGAACTTGGTTTGTAGACCTAAAATTTATTCTTTTAATACAAAAATTAGTCAGGCGTGGTGGCAGGTGCCTGGAATCCCAACTACTTGGGAGACTGAGGCAAGAGAATCATTTGAACCCCGAAGGTAGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGACTCCATTTCAAAAAAAAAAA... |
Task1_train_9153 | A genomic change on Chromosome 5 affects HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 24 | AAACATATACTTTTCATAAAAAGTAAAATTTTTAAAAAGTAACATAATGTCCTTAAGACCTATCCTGGATTACACTGACTAAAAAATGAGTACAGAACTTTAGAACTAAACTTCTTGGCAGAACTTGGTTTGTAGACCTAAAATTTATTCTTTTAATACAAAAATTAGTCAGGCGTGGTGGCAGGTGCCTGGAATCCCAACTACTTGGGAGACTGAGGCAAGAGAATCATTTGAACCCCGAAGGTAGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGACTCCATTTCAAAAAAAAAAA... | AAACATATACTTTTCATAAAAAGTAAAATTTTTAAAAAGTAACATAATGTCCTTAAGACCTATCCTGGATTACACTGACTAAAAAATGAGTACAGAACTTTAGAACTAAACTTCTTGGCAGAACTTGGTTTGTAGACCTAAAATTTATTCTTTTAATACAAAAATTAGTCAGGCGTGGTGGCAGGTGCCTGGAATCCCAACTACTTGGGAGACTGAGGCAAGAGAATCATTTGAACCCCGAAGGTAGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGACTCCATTTCAAAAAAAAAAA... |
Task1_train_9154 | Gene HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 10 | ACATATACTTTTCATAAAAAGTAAAATTTTTAAAAAGTAACATAATGTCCTTAAGACCTATCCTGGATTACACTGACTAAAAAATGAGTACAGAACTTTAGAACTAAACTTCTTGGCAGAACTTGGTTTGTAGACCTAAAATTTATTCTTTTAATACAAAAATTAGTCAGGCGTGGTGGCAGGTGCCTGGAATCCCAACTACTTGGGAGACTGAGGCAAGAGAATCATTTGAACCCCGAAGGTAGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGACTCCATTTCAAAAAAAAAAAGT... | ACATATACTTTTCATAAAAAGTAAAATTTTTAAAAAGTAACATAATGTCCTTAAGACCTATCCTGGATTACACTGACTAAAAAATGAGTACAGAACTTTAGAACTAAACTTCTTGGCAGAACTTGGTTTGTAGACCTAAAATTTATTCTTTTAATACAAAAATTAGTCAGGCGTGGTGGCAGGTGCCTGGAATCCCAACTACTTGGGAGACTGAGGCAAGAGAATCATTTGAACCCCGAAGGTAGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGACTCCATTTCAAAAAAAAAAAGT... |
Task1_train_9155 | A sequence alteration has been identified in HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 10 | TATACTATCCTCTCAGTCAGTAGCCAGATTATAGAGCTGTTGCCTTTTCTTCTCCTGAAAAATACAATTATTACTATTTTTACCATATACTTTCCTCCTTCAAAAAGATAAGTAAAGTGACAGATCTATAATCAAGTAGACATCACAGGTTTGAAAAATGAGCCAACCAAACTACTGCTTACTTTGTTCTTTAGTTATCGAAACTACCATATAGAATATTTCTCAAAAAAACTGTCAATGATAAGTGACTAAGTCACAACAAATTAATGTGTCAGGTACTATTCTAGGCACTTTCTATGGTCTGAATGTGACTCCCAAAA... | TATACTATCCTCTCAGTCAGTAGCCAGATTATAGAGCTGTTGCCTTTTCTTCTCCTGAAAAATACAATTATTACTATTTTTACCATATACTTTCCTCCTTCAAAAAGATAAGTAAAGTGACAGATCTATAATCAAGTAGACATCACAGGTTTGAAAAATGAGCCAACCAAACTACTGCTTACTTTGTTCTTTAGTTATCGAAACTACCATATAGAATATTTCTCAAAAAAACTGTCAATGATAAGTGACTAAGTCACAACAAATTAATGTGTCAGGTACTATTCTAGGCACTTTCTATGGTCTGAATGTGACTCCCAAAA... |
Task1_train_9156 | Gene HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 24 | CCTTCAAAAAGATAAGTAAAGTGACAGATCTATAATCAAGTAGACATCACAGGTTTGAAAAATGAGCCAACCAAACTACTGCTTACTTTGTTCTTTAGTTATCGAAACTACCATATAGAATATTTCTCAAAAAAACTGTCAATGATAAGTGACTAAGTCACAACAAATTAATGTGTCAGGTACTATTCTAGGCACTTTCTATGGTCTGAATGTGACTCCCAAAATTCATGTGTTAGAAGCTTAATCCATATTACAACAATGTTGGGAGGTGGGGTCTAATAAAGGTGTTTAGGTCATGATTGCTTTGCTCTCATAAATAG... | CCTTCAAAAAGATAAGTAAAGTGACAGATCTATAATCAAGTAGACATCACAGGTTTGAAAAATGAGCCAACCAAACTACTGCTTACTTTGTTCTTTAGTTATCGAAACTACCATATAGAATATTTCTCAAAAAAACTGTCAATGATAAGTGACTAAGTCACAACAAATTAATGTGTCAGGTACTATTCTAGGCACTTTCTATGGTCTGAATGTGACTCCCAAAATTCATGTGTTAGAAGCTTAATCCATATTACAACAATGTTGGGAGGTGGGGTCTAATAAAGGTGTTTAGGTCATGATTGCTTTGCTCTCATAAATAG... |
Task1_train_9157 | Gene HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | AATTACTGCCAGAAGCCAAAGGACATTGGTGGTAAGGAGTATACTCTTATATGACCACATGGCCTGCCATTTTATCTGATAGGATGCCATCTGTTCATCCTGCTGCCATTCTCTAGGGTAACTGGGCTAAAACCACAAGATATTAAAAATAGTCACATTGCTACTGTATTTTTAATTGACTGGATGTTTATATCAGTGACTTTCCTCTCACAGGATATTTGTTAAAATATTTTTCCATGGCCTTGTTTTAAGAGGTACTATTCAACTCTGTTGTATTGCATGGCCCACAGTCTTACTTAAGAAAAGTTCCCTATAATTCG... | AATTACTGCCAGAAGCCAAAGGACATTGGTGGTAAGGAGTATACTCTTATATGACCACATGGCCTGCCATTTTATCTGATAGGATGCCATCTGTTCATCCTGCTGCCATTCTCTAGGGTAACTGGGCTAAAACCACAAGATATTAAAAATAGTCACATTGCTACTGTATTTTTAATTGACTGGATGTTTATATCAGTGACTTTCCTCTCACAGGATATTTGTTAAAATATTTTTCCATGGCCTTGTTTTAAGAGGTACTATTCAACTCTGTTGTATTGCATGGCCCACAGTCTTACTTAAGAAAAGTTCCCTATAATTCG... |
Task1_train_9158 | Here’s a variant in HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Color vision defect | GATAGGATGCCATCTGTTCATCCTGCTGCCATTCTCTAGGGTAACTGGGCTAAAACCACAAGATATTAAAAATAGTCACATTGCTACTGTATTTTTAATTGACTGGATGTTTATATCAGTGACTTTCCTCTCACAGGATATTTGTTAAAATATTTTTCCATGGCCTTGTTTTAAGAGGTACTATTCAACTCTGTTGTATTGCATGGCCCACAGTCTTACTTAAGAAAAGTTCCCTATAATTCGTTAGACAATCTATAAAATGGTAGAATATTAAGATATTTATAACTAAAACATTATATATCATAGTAAGAACCTATATA... | GATAGGATGCCATCTGTTCATCCTGCTGCCATTCTCTAGGGTAACTGGGCTAAAACCACAAGATATTAAAAATAGTCACATTGCTACTGTATTTTTAATTGACTGGATGTTTATATCAGTGACTTTCCTCTCACAGGATATTTGTTAAAATATTTTTCCATGGCCTTGTTTTAAGAGGTACTATTCAACTCTGTTGTATTGCATGGCCCACAGTCTTACTTAAGAAAAGTTCCCTATAATTCGTTAGACAATCTATAAAATGGTAGAATATTAAGATATTTATAACTAAAACATTATATATCATAGTAAGAACCTATATA... |
Task1_train_9159 | A variant on Chromosome 5 in gene HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Febrile seizure (within the age range of 3 months to 6 years) | GATAGGATGCCATCTGTTCATCCTGCTGCCATTCTCTAGGGTAACTGGGCTAAAACCACAAGATATTAAAAATAGTCACATTGCTACTGTATTTTTAATTGACTGGATGTTTATATCAGTGACTTTCCTCTCACAGGATATTTGTTAAAATATTTTTCCATGGCCTTGTTTTAAGAGGTACTATTCAACTCTGTTGTATTGCATGGCCCACAGTCTTACTTAAGAAAAGTTCCCTATAATTCGTTAGACAATCTATAAAATGGTAGAATATTAAGATATTTATAACTAAAACATTATATATCATAGTAAGAACCTATATA... | GATAGGATGCCATCTGTTCATCCTGCTGCCATTCTCTAGGGTAACTGGGCTAAAACCACAAGATATTAAAAATAGTCACATTGCTACTGTATTTTTAATTGACTGGATGTTTATATCAGTGACTTTCCTCTCACAGGATATTTGTTAAAATATTTTTCCATGGCCTTGTTTTAAGAGGTACTATTCAACTCTGTTGTATTGCATGGCCCACAGTCTTACTTAAGAAAAGTTCCCTATAATTCGTTAGACAATCTATAAAATGGTAGAATATTAAGATATTTATAACTAAAACATTATATATCATAGTAAGAACCTATATA... |
Task1_train_9160 | A variant affecting Chromosome 5, within the gene HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Seizure | GATAGGATGCCATCTGTTCATCCTGCTGCCATTCTCTAGGGTAACTGGGCTAAAACCACAAGATATTAAAAATAGTCACATTGCTACTGTATTTTTAATTGACTGGATGTTTATATCAGTGACTTTCCTCTCACAGGATATTTGTTAAAATATTTTTCCATGGCCTTGTTTTAAGAGGTACTATTCAACTCTGTTGTATTGCATGGCCCACAGTCTTACTTAAGAAAAGTTCCCTATAATTCGTTAGACAATCTATAAAATGGTAGAATATTAAGATATTTATAACTAAAACATTATATATCATAGTAAGAACCTATATA... | GATAGGATGCCATCTGTTCATCCTGCTGCCATTCTCTAGGGTAACTGGGCTAAAACCACAAGATATTAAAAATAGTCACATTGCTACTGTATTTTTAATTGACTGGATGTTTATATCAGTGACTTTCCTCTCACAGGATATTTGTTAAAATATTTTTCCATGGCCTTGTTTTAAGAGGTACTATTCAACTCTGTTGTATTGCATGGCCCACAGTCTTACTTAAGAAAAGTTCCCTATAATTCGTTAGACAATCTATAAAATGGTAGAATATTAAGATATTTATAACTAAAACATTATATATCATAGTAAGAACCTATATA... |
Task1_train_9161 | This genomic variant is located on Chromosome 5, within the HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 10 | CCATCTGTTCATCCTGCTGCCATTCTCTAGGGTAACTGGGCTAAAACCACAAGATATTAAAAATAGTCACATTGCTACTGTATTTTTAATTGACTGGATGTTTATATCAGTGACTTTCCTCTCACAGGATATTTGTTAAAATATTTTTCCATGGCCTTGTTTTAAGAGGTACTATTCAACTCTGTTGTATTGCATGGCCCACAGTCTTACTTAAGAAAAGTTCCCTATAATTCGTTAGACAATCTATAAAATGGTAGAATATTAAGATATTTATAACTAAAACATTATATATCATAGTAAGAACCTATATAGTTTTGCAG... | CCATCTGTTCATCCTGCTGCCATTCTCTAGGGTAACTGGGCTAAAACCACAAGATATTAAAAATAGTCACATTGCTACTGTATTTTTAATTGACTGGATGTTTATATCAGTGACTTTCCTCTCACAGGATATTTGTTAAAATATTTTTCCATGGCCTTGTTTTAAGAGGTACTATTCAACTCTGTTGTATTGCATGGCCCACAGTCTTACTTAAGAAAAGTTCCCTATAATTCGTTAGACAATCTATAAAATGGTAGAATATTAAGATATTTATAACTAAAACATTATATATCATAGTAAGAACCTATATAGTTTTGCAG... |
Task1_train_9162 | Here is a variant affecting HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TAGGGTAACTGGGCTAAAACCACAAGATATTAAAAATAGTCACATTGCTACTGTATTTTTAATTGACTGGATGTTTATATCAGTGACTTTCCTCTCACAGGATATTTGTTAAAATATTTTTCCATGGCCTTGTTTTAAGAGGTACTATTCAACTCTGTTGTATTGCATGGCCCACAGTCTTACTTAAGAAAAGTTCCCTATAATTCGTTAGACAATCTATAAAATGGTAGAATATTAAGATATTTATAACTAAAACATTATATATCATAGTAAGAACCTATATAGTTTTGCAGTTAAGAGCACTGGCTCCTGAGTCTGAT... | TAGGGTAACTGGGCTAAAACCACAAGATATTAAAAATAGTCACATTGCTACTGTATTTTTAATTGACTGGATGTTTATATCAGTGACTTTCCTCTCACAGGATATTTGTTAAAATATTTTTCCATGGCCTTGTTTTAAGAGGTACTATTCAACTCTGTTGTATTGCATGGCCCACAGTCTTACTTAAGAAAAGTTCCCTATAATTCGTTAGACAATCTATAAAATGGTAGAATATTAAGATATTTATAACTAAAACATTATATATCATAGTAAGAACCTATATAGTTTTGCAGTTAAGAGCACTGGCTCCTGAGTCTGAT... |
Task1_train_9163 | A variant was discovered on Chromosome 5, affecting HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTTTTCCATGGCCTTGTTTTAAGAGGTACTATTCAACTCTGTTGTATTGCATGGCCCACAGTCTTACTTAAGAAAAGTTCCCTATAATTCGTTAGACAATCTATAAAATGGTAGAATATTAAGATATTTATAACTAAAACATTATATATCATAGTAAGAACCTATATAGTTTTGCAGTTAAGAGCACTGGCTCCTGAGTCTGATTGCCAAGTTTGGAATCCCAGCTCCACTTCTTACTAGTTCTATGAATCTGGACGAGTTACCTTATTGTATTTAATTGTTCTCATCTGTAAAATAATGACAATAATTATATTTACATC... | TTTTTCCATGGCCTTGTTTTAAGAGGTACTATTCAACTCTGTTGTATTGCATGGCCCACAGTCTTACTTAAGAAAAGTTCCCTATAATTCGTTAGACAATCTATAAAATGGTAGAATATTAAGATATTTATAACTAAAACATTATATATCATAGTAAGAACCTATATAGTTTTGCAGTTAAGAGCACTGGCTCCTGAGTCTGATTGCCAAGTTTGGAATCCCAGCTCCACTTCTTACTAGTTCTATGAATCTGGACGAGTTACCTTATTGTATTTAATTGTTCTCATCTGTAAAATAATGACAATAATTATATTTACATC... |
Task1_train_9164 | Assess the clinical impact of this variant on gene HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1), found on Chromosome 5. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Generalized epilepsy with febrile seizures plus, type 10 | TATTAAGATATTTATAACTAAAACATTATATATCATAGTAAGAACCTATATAGTTTTGCAGTTAAGAGCACTGGCTCCTGAGTCTGATTGCCAAGTTTGGAATCCCAGCTCCACTTCTTACTAGTTCTATGAATCTGGACGAGTTACCTTATTGTATTTAATTGTTCTCATCTGTAAAATAATGACAATAATTATATTTACATCTTTGTGTTGTTAGGAAGATTCAGTGAGCTAATATATGTAAAGAATCAAACATACTAGCTGACGTGTAATAAGCCTTCAATAAATATTAGCAATTATTAGCAAGAATCATCTTGGTT... | TATTAAGATATTTATAACTAAAACATTATATATCATAGTAAGAACCTATATAGTTTTGCAGTTAAGAGCACTGGCTCCTGAGTCTGATTGCCAAGTTTGGAATCCCAGCTCCACTTCTTACTAGTTCTATGAATCTGGACGAGTTACCTTATTGTATTTAATTGTTCTCATCTGTAAAATAATGACAATAATTATATTTACATCTTTGTGTTGTTAGGAAGATTCAGTGAGCTAATATATGTAAAGAATCAAACATACTAGCTGACGTGTAATAAGCCTTCAATAAATATTAGCAATTATTAGCAAGAATCATCTTGGTT... |
Task1_train_9165 | A variant was discovered on Chromosome 5, affecting HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Generalized epilepsy with febrile seizures plus, type 10 | TTTAATTACTTGATGTGTGGTATCATTTTGATAAGGGATAGTCCTTTTCACATTGCTGAAAAAATAAAAGCATCATATGTAATCATTTTATTGAGTGAAATTAAATGTTAAAAGTTCAGCATTTTTGCATGTTAATATTGAACCTGGTACATTTCTGGAAATACCACATTTATTTTTGCTATTAAGACTGGAGACTTTTTTCATGTAAGTTATTTTCATTTAAAAATTTTAAAATGAGGTGAAATATATTTCCATTGGGGACTGAGGAAAAGATAATATTCTATACTTGATTCCCACCTTTAAAATTCTAAAGAACATGA... | TTTAATTACTTGATGTGTGGTATCATTTTGATAAGGGATAGTCCTTTTCACATTGCTGAAAAAATAAAAGCATCATATGTAATCATTTTATTGAGTGAAATTAAATGTTAAAAGTTCAGCATTTTTGCATGTTAATATTGAACCTGGTACATTTCTGGAAATACCACATTTATTTTTGCTATTAAGACTGGAGACTTTTTTCATGTAAGTTATTTTCATTTAAAAATTTTAAAATGAGGTGAAATATATTTCCATTGGGGACTGAGGAAAAGATAATATTCTATACTTGATTCCCACCTTTAAAATTCTAAAGAACATGA... |
Task1_train_9166 | A mutation in HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1), located on Chromosome 5, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTTAATTACTTGATGTGTGGTATCATTTTGATAAGGGATAGTCCTTTTCACATTGCTGAAAAAATAAAAGCATCATATGTAATCATTTTATTGAGTGAAATTAAATGTTAAAAGTTCAGCATTTTTGCATGTTAATATTGAACCTGGTACATTTCTGGAAATACCACATTTATTTTTGCTATTAAGACTGGAGACTTTTTTCATGTAAGTTATTTTCATTTAAAAATTTTAAAATGAGGTGAAATATATTTCCATTGGGGACTGAGGAAAAGATAATATTCTATACTTGATTCCCACCTTTAAAATTCTAAAGAACATGA... | TTTAATTACTTGATGTGTGGTATCATTTTGATAAGGGATAGTCCTTTTCACATTGCTGAAAAAATAAAAGCATCATATGTAATCATTTTATTGAGTGAAATTAAATGTTAAAAGTTCAGCATTTTTGCATGTTAATATTGAACCTGGTACATTTCTGGAAATACCACATTTATTTTTGCTATTAAGACTGGAGACTTTTTTCATGTAAGTTATTTTCATTTAAAAATTTTAAAATGAGGTGAAATATATTTCCATTGGGGACTGAGGAAAAGATAATATTCTATACTTGATTCCCACCTTTAAAATTCTAAAGAACATGA... |
Task1_train_9167 | This variant impacts the gene MOCS2 (molybdenum cofactor synthesis 2) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | TAAGCAAGGGTCAGTAAAGATCCTATCTAAGTCAAGTGCAATGCACTAAAATCTTTCAAGGCCATTCCATCCCAGTTCTGGCATGCCCCAGGTTAACTCCTTAACCTCTCTGTTGGAGACTTTAAAAGCATAACAGTCTCAGTTCCAAACTTAGAATAAAGCCTACTTAATGAAGGCATGATTCTTTTAAAACATAAAGAATGTTCTATGTTCTTTAAAAACATCATTACCCTCAATAAGGAACTTCTAAAGAAATATCTAAGTAGGAAAGTCTTGAAATCCACATATACCTATCAACATTGCATATGACATAACATCCA... | TAAGCAAGGGTCAGTAAAGATCCTATCTAAGTCAAGTGCAATGCACTAAAATCTTTCAAGGCCATTCCATCCCAGTTCTGGCATGCCCCAGGTTAACTCCTTAACCTCTCTGTTGGAGACTTTAAAAGCATAACAGTCTCAGTTCCAAACTTAGAATAAAGCCTACTTAATGAAGGCATGATTCTTTTAAAACATAAAGAATGTTCTATGTTCTTTAAAAACATCATTACCCTCAATAAGGAACTTCTAAAGAAATATCTAAGTAGGAAAGTCTTGAAATCCACATATACCTATCAACATTGCATATGACATAACATCCA... |
Task1_train_9168 | Consider this mutation in MOCS2 (molybdenum cofactor synthesis 2) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | TCTTTTCAGGCATTATTAGCTGTGAAATTTTTCTACATTTTCCATGGCCGGGAGAGCTATTATCTAGTATTAGTAAGTGTGGTTGGAAAAAAGTACACAGACAGTCCAATAATATGAGTTCAAATGCTGTCTTTTGAAAACCTCTTGAATCCTCAGCAAAAAGAACAAAGCTGGAGGCATTACACTACCCAACTTCAAACTATACCACAGGGCTACAGTAACCAAAACAGCATGGGACTGGTACAAAACAGGACACATAGACAAATGAAACAGAACCCAGAACCCAGAAATAAAGCTTCACACCTACAACTATCTGATCT... | TCTTTTCAGGCATTATTAGCTGTGAAATTTTTCTACATTTTCCATGGCCGGGAGAGCTATTATCTAGTATTAGTAAGTGTGGTTGGAAAAAAGTACACAGACAGTCCAATAATATGAGTTCAAATGCTGTCTTTTGAAAACCTCTTGAATCCTCAGCAAAAAGAACAAAGCTGGAGGCATTACACTACCCAACTTCAAACTATACCACAGGGCTACAGTAACCAAAACAGCATGGGACTGGTACAAAACAGGACACATAGACAAATGAAACAGAACCCAGAACCCAGAAATAAAGCTTCACACCTACAACTATCTGATCT... |
Task1_train_9169 | A variant was discovered on Chromosome 5, affecting MOCS2 (molybdenum cofactor synthesis 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | CTTTTCAGGCATTATTAGCTGTGAAATTTTTCTACATTTTCCATGGCCGGGAGAGCTATTATCTAGTATTAGTAAGTGTGGTTGGAAAAAAGTACACAGACAGTCCAATAATATGAGTTCAAATGCTGTCTTTTGAAAACCTCTTGAATCCTCAGCAAAAAGAACAAAGCTGGAGGCATTACACTACCCAACTTCAAACTATACCACAGGGCTACAGTAACCAAAACAGCATGGGACTGGTACAAAACAGGACACATAGACAAATGAAACAGAACCCAGAACCCAGAAATAAAGCTTCACACCTACAACTATCTGATCTT... | CTTTTCAGGCATTATTAGCTGTGAAATTTTTCTACATTTTCCATGGCCGGGAGAGCTATTATCTAGTATTAGTAAGTGTGGTTGGAAAAAAGTACACAGACAGTCCAATAATATGAGTTCAAATGCTGTCTTTTGAAAACCTCTTGAATCCTCAGCAAAAAGAACAAAGCTGGAGGCATTACACTACCCAACTTCAAACTATACCACAGGGCTACAGTAACCAAAACAGCATGGGACTGGTACAAAACAGGACACATAGACAAATGAAACAGAACCCAGAACCCAGAAATAAAGCTTCACACCTACAACTATCTGATCTT... |
Task1_train_9170 | Here is a variant affecting MOCS2 (molybdenum cofactor synthesis 2) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | GGCACTAGACTTAATACCTGGGTGACAAAATTATCTGTACAAGAAACCGCCATGATACAAGTTCCCCTGAACTTAAAAGTTAAATAAATTCTTTTTAATTTGGCTCTTTCACTTATTAGCTATGTGATTAGCTATGTGATCAAAGGCAAGTTTTTTAAGTCTTCTGAATTTGTTTTTTTACCTGCAAAATATGGATATTAATATGTCACTGTGCCTGACACATAAGATCTCAATAAACCATGTTAAATGAAACATATCAAACTGATATGTTTATTGTAATTAAACTGCTTACAATAGACTTGATGCAGAAATGGTGCTAG... | GGCACTAGACTTAATACCTGGGTGACAAAATTATCTGTACAAGAAACCGCCATGATACAAGTTCCCCTGAACTTAAAAGTTAAATAAATTCTTTTTAATTTGGCTCTTTCACTTATTAGCTATGTGATTAGCTATGTGATCAAAGGCAAGTTTTTTAAGTCTTCTGAATTTGTTTTTTTACCTGCAAAATATGGATATTAATATGTCACTGTGCCTGACACATAAGATCTCAATAAACCATGTTAAATGAAACATATCAAACTGATATGTTTATTGTAATTAAACTGCTTACAATAGACTTGATGCAGAAATGGTGCTAG... |
Task1_train_9171 | This genomic variant is located on Chromosome 5, within the LOC129993881, MOCS2 (ATAC-STARR-seq lymphoblastoid silent region 16005| molybdenum cofactor synthesis 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | AAGCCACCTGCAACACAGCTTTATTAGCTGTTCCTTTATACCTGAACAATGGTAAGCTTTCTTTTCAGGCACAGTGAAAACGTATACAAGACCTGCTGTCTCCCTCCAGGTAAAGCAGAATGGGAGACCCCACTGTGTTTTATTGATTATCAGGCCACTGTAAGAGCAACTTAAAAGATACGAAATCATGAAGTGGTTTGCTTTTAAACACTTATTATGGAGTATCTTTTACACAGAACTAGGACTTCCAGGTTAAACACCTATACAAGCTAAGTAACACCATTAATATTCCTGAATCACCCTCAAATAAGTCACTTTTA... | AAGCCACCTGCAACACAGCTTTATTAGCTGTTCCTTTATACCTGAACAATGGTAAGCTTTCTTTTCAGGCACAGTGAAAACGTATACAAGACCTGCTGTCTCCCTCCAGGTAAAGCAGAATGGGAGACCCCACTGTGTTTTATTGATTATCAGGCCACTGTAAGAGCAACTTAAAAGATACGAAATCATGAAGTGGTTTGCTTTTAAACACTTATTATGGAGTATCTTTTACACAGAACTAGGACTTCCAGGTTAAACACCTATACAAGCTAAGTAACACCATTAATATTCCTGAATCACCCTCAAATAAGTCACTTTTA... |
Task1_train_9172 | This gene mutation involves MCIDAS (multiciliate differentiation and DNA synthesis associated cell cycle protein) on Chromosome 5. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ciliary dyskinesia, primary, 42 | ATTATCTAATTCTCTATCCTTACTCTTCATAGCATGTATATATTTATTTGTTTGGTAGTTATGTCTTCCCAGGAGAAAGTAAGATCCATGAGGGCAAGATTTTTGTGTTTTGTTATTTTGCTGTTTACTTAGTATCTGTATTACTAAGATTCTCGGTAATAATCAATAAATATCTGTTAAATAAACAAATGAATCTAATTTGTAAATTCTACTACTGCTAACTAATTTAGTCACTTGTGCCATTAGTCCACAAGATGACGCCCCAACCTCCAACCTCCCACCCCAACCCCTGCCTCAGAAGTGAAAGATACTTAAGCAGT... | ATTATCTAATTCTCTATCCTTACTCTTCATAGCATGTATATATTTATTTGTTTGGTAGTTATGTCTTCCCAGGAGAAAGTAAGATCCATGAGGGCAAGATTTTTGTGTTTTGTTATTTTGCTGTTTACTTAGTATCTGTATTACTAAGATTCTCGGTAATAATCAATAAATATCTGTTAAATAAACAAATGAATCTAATTTGTAAATTCTACTACTGCTAACTAATTTAGTCACTTGTGCCATTAGTCCACAAGATGACGCCCCAACCTCCAACCTCCCACCCCAACCCCTGCCTCAGAAGTGAAAGATACTTAAGCAGT... |
Task1_train_9173 | The gene MCIDAS (multiciliate differentiation and DNA synthesis associated cell cycle protein) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Primary ciliary dyskinesia 3 | CTGAAGGCAAAGTTCTGGGAAGCCCCCAGGCACTTCAGTGGAAACACAGGGCAGTGTTTTGGGGGACCACATCACAGCTCAACTGGGGACCCAGCGGAACTTGTAACCCCCGTTGGCTGTTCTGATGGTGAAGGCATTGCCCTGGGGGAAGGCGAGGGTGCGGATGGTGCTGTGGCTGCGGATGCGGGTGCTGAAGGAGCCGCCCTCCTCCAGCTCACTGTGGCTCAGGTTCAACGCGCTCCGGCTGCAGTCTGTGCGCAGCCCCCGGAAGGCGCCATGCAGGTTCCCGGGCCTGGTGTCAGTATTCGCGGGCTCTGGCA... | CTGAAGGCAAAGTTCTGGGAAGCCCCCAGGCACTTCAGTGGAAACACAGGGCAGTGTTTTGGGGGACCACATCACAGCTCAACTGGGGACCCAGCGGAACTTGTAACCCCCGTTGGCTGTTCTGATGGTGAAGGCATTGCCCTGGGGGAAGGCGAGGGTGCGGATGGTGCTGTGGCTGCGGATGCGGGTGCTGAAGGAGCCGCCCTCCTCCAGCTCACTGTGGCTCAGGTTCAACGCGCTCCGGCTGCAGTCTGTGCGCAGCCCCCGGAAGGCGCCATGCAGGTTCCCGGGCCTGGTGTCAGTATTCGCGGGCTCTGGCA... |
Task1_train_9174 | Consider this mutation in CCNO (cyclin O) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Primary ciliary dyskinesia | GTGTTGCAATTTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACTATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGATATTCCCATTTTATAGATGAAACGTAGGCATAGATATGTGACTTGCTTAAGGTCACCTGGCAAATTGGATACAGA... | GTGTTGCAATTTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACTATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGATATTCCCATTTTATAGATGAAACGTAGGCATAGATATGTGACTTGCTTAAGGTCACCTGGCAAATTGGATACAGA... |
Task1_train_9175 | Here’s a variant in IL31RA (interleukin 31 receptor A) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Amyloidosis, primary localized cutaneous, 2 | ATCTCTCTGAAAATGGGGCCAAGAGCACCCACCTTTTGGGGTTTTGGGGGTTAAATGAGAGTGAAGTGACAGTACCTGAGAGGAGAGTCCTGAGGAAATGGAAGGAGTTGTTATAATTTGTCCTGGTTAGGCCCTGAATTGACCTCCCGGGAGCTCCCCGACCATCATTCCCAGGAATGGCGTGCCTGGCTTAAAGAGTGAGGAGGAACAGACCCTGTCACCATGACTTCTACTGCCCCTGCCAAATCATGCTTTTGTTTTTCAGTCCACCTTATCTCCTGACATCTTAAATACTGGGCAAGGCTTGGATTCTTGCTTAG... | ATCTCTCTGAAAATGGGGCCAAGAGCACCCACCTTTTGGGGTTTTGGGGGTTAAATGAGAGTGAAGTGACAGTACCTGAGAGGAGAGTCCTGAGGAAATGGAAGGAGTTGTTATAATTTGTCCTGGTTAGGCCCTGAATTGACCTCCCGGGAGCTCCCCGACCATCATTCCCAGGAATGGCGTGCCTGGCTTAAAGAGTGAGGAGGAACAGACCCTGTCACCATGACTTCTACTGCCCCTGCCAAATCATGCTTTTGTTTTTCAGTCCACCTTATCTCCTGACATCTTAAATACTGGGCAAGGCTTGGATTCTTGCTTAG... |
Task1_train_9176 | A variant was discovered on Chromosome 5, affecting IL6ST (interleukin 6 cytokine family signal transducer). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hyper-IgE recurrent infection syndrome 4, autosomal recessive | GTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGGTCGAGACCATCCCAGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCCAGGCATGGTAGTGGGCACCTCTACCCCAGCTACGTGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAAAAAGGAGAAGAAGA... | GTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGGTCGAGACCATCCCAGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCCAGGCATGGTAGTGGGCACCTCTACCCCAGCTACGTGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAAAAAGGAGAAGAAGA... |
Task1_train_9177 | Chromosome 5 houses a mutation in gene IL6ST (interleukin 6 cytokine family signal transducer). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hyper-IgE recurrent infection syndrome 4, autosomal recessive | ACTTCCTAAGCTCCACCATGTTTTTAATTTGATAAAGTCAGTAAACTAGATAACCAAGCTTATTAAAACTGTACACTAATAACATGTAAGTCCAAACAGCCTGTATTATGACTAAAGCTCAAAAACTTTATGGCAGGAATCTCTCTGCTTAGGGCTTTTCTCTAATTAACCATATTATTCACAGCTGAATTCTAATTATTAATTATCAACAAAAGACTATAAACTGAGTTTTTTTCTCTTCAAAGTTGTTGTATCACTTTATAACCACTTAAGCAGCACCATAACACACAGACTGGAGCGCTACGATTCATTACTTCTGT... | ACTTCCTAAGCTCCACCATGTTTTTAATTTGATAAAGTCAGTAAACTAGATAACCAAGCTTATTAAAACTGTACACTAATAACATGTAAGTCCAAACAGCCTGTATTATGACTAAAGCTCAAAAACTTTATGGCAGGAATCTCTCTGCTTAGGGCTTTTCTCTAATTAACCATATTATTCACAGCTGAATTCTAATTATTAATTATCAACAAAAGACTATAAACTGAGTTTTTTTCTCTTCAAAGTTGTTGTATCACTTTATAACCACTTAAGCAGCACCATAACACACAGACTGGAGCGCTACGATTCATTACTTCTGT... |
Task1_train_9178 | A change on Chromosome 5 affects gene MAP3K1 (mitogen-activated protein kinase kinase kinase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; MAP3K1-related disorder | ACATTAGACTTTAAGGAGGCCATGCCATCCAGAAAGATTTGTTTAGACAAGGAACATCCTTTGTGTGTTTGACTCAGGGCCAGGAACAGAAACTGAAAATCCATAGCAGAGAAGAGATACTCCTGAAACAGATTTGGGGGAAGAGAGATAGCTAGGACCAGAGGAAAGACTATCAAGCACCTTGGTCTAGGAGTGCAGGAGTTTCTGGTATAAAAATGCACTGCAGTTCCACTGTGAGGCTTATTTTTTGGAACTAGCCTGGGAACCAAACCACCTCTTGCAACATTGTTACTGGAGGGGGAAAGCGCTTTTAATACTAA... | ACATTAGACTTTAAGGAGGCCATGCCATCCAGAAAGATTTGTTTAGACAAGGAACATCCTTTGTGTGTTTGACTCAGGGCCAGGAACAGAAACTGAAAATCCATAGCAGAGAAGAGATACTCCTGAAACAGATTTGGGGGAAGAGAGATAGCTAGGACCAGAGGAAAGACTATCAAGCACCTTGGTCTAGGAGTGCAGGAGTTTCTGGTATAAAAATGCACTGCAGTTCCACTGTGAGGCTTATTTTTTGGAACTAGCCTGGGAACCAAACCACCTCTTGCAACATTGTTACTGGAGGGGGAAAGCGCTTTTAATACTAA... |
Task1_train_9179 | This sequence change occurs on Chromosome 5, altering MAP3K1 (mitogen-activated protein kinase kinase kinase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; 46,XY sex reversal 6 | ACATTAGACTTTAAGGAGGCCATGCCATCCAGAAAGATTTGTTTAGACAAGGAACATCCTTTGTGTGTTTGACTCAGGGCCAGGAACAGAAACTGAAAATCCATAGCAGAGAAGAGATACTCCTGAAACAGATTTGGGGGAAGAGAGATAGCTAGGACCAGAGGAAAGACTATCAAGCACCTTGGTCTAGGAGTGCAGGAGTTTCTGGTATAAAAATGCACTGCAGTTCCACTGTGAGGCTTATTTTTTGGAACTAGCCTGGGAACCAAACCACCTCTTGCAACATTGTTACTGGAGGGGGAAAGCGCTTTTAATACTAA... | ACATTAGACTTTAAGGAGGCCATGCCATCCAGAAAGATTTGTTTAGACAAGGAACATCCTTTGTGTGTTTGACTCAGGGCCAGGAACAGAAACTGAAAATCCATAGCAGAGAAGAGATACTCCTGAAACAGATTTGGGGGAAGAGAGATAGCTAGGACCAGAGGAAAGACTATCAAGCACCTTGGTCTAGGAGTGCAGGAGTTTCTGGTATAAAAATGCACTGCAGTTCCACTGTGAGGCTTATTTTTTGGAACTAGCCTGGGAACCAAACCACCTCTTGCAACATTGTTACTGGAGGGGGAAAGCGCTTTTAATACTAA... |
Task1_train_9180 | A genetic alteration is present in MAP3K1 (mitogen-activated protein kinase kinase kinase 1) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; 46,XY sex reversal 6 | AATTCAGTGTTTTATAGTATATTCACAGGGTTGTGTAGCCATTATTACGGTCGGTTTTTAAACATCTTTATTACCCCAATAAGATATCCTAGACCTATTAGCAGTATTAAAGCAAAATAGGTAGTAGGTAGCCTGGGGTTGTTTCTACACCTGGAAATGAAACCAACCTTTAGCCAATCACAAACAGCCAGCCAGCCTATTTGTTATATAACTAGGGACTTTGCATAATGCCATGCCCAAGTAAGGCAAACACCTAGCTGTAGCCAATCAGCTGATTCCTTTGCTTTGCTTTGCTTTGTGTTCAGCCTGTAAAAGCTGGC... | AATTCAGTGTTTTATAGTATATTCACAGGGTTGTGTAGCCATTATTACGGTCGGTTTTTAAACATCTTTATTACCCCAATAAGATATCCTAGACCTATTAGCAGTATTAAAGCAAAATAGGTAGTAGGTAGCCTGGGGTTGTTTCTACACCTGGAAATGAAACCAACCTTTAGCCAATCACAAACAGCCAGCCAGCCTATTTGTTATATAACTAGGGACTTTGCATAATGCCATGCCCAAGTAAGGCAAACACCTAGCTGTAGCCAATCAGCTGATTCCTTTGCTTTGCTTTGCTTTGTGTTCAGCCTGTAAAAGCTGGC... |
Task1_train_9181 | Mutation context: Chromosome 5, Gene MAP3K1 (mitogen-activated protein kinase kinase kinase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; 46,XY sex reversal 6 | AATGTATTTGTCTCCTTCCCTCAGTTGTTCATAATTTAAAAAAACACTTTTACTTGCCTCCATCATGACCTTCATTCCACTGGAAATTTTAATGTTACTTTTGGTATTAATACTATACTGCTTATTGTACAGCTTCAACTTCAAAACTTCTTGTGGTTTCACTTCACATATCTAGAAACATCTCTTCCTGAACTAACGGACATACGGGGTTATTCAAGGATAGAAGGATAGAAACCAGAACCCTTCAATGCTAACTTTTCCCAATGTTTAATCCCCGTGCCTGCCAAGAATTTTTATCATGTTTCTTATTTGCTGCCATT... | AATGTATTTGTCTCCTTCCCTCAGTTGTTCATAATTTAAAAAAACACTTTTACTTGCCTCCATCATGACCTTCATTCCACTGGAAATTTTAATGTTACTTTTGGTATTAATACTATACTGCTTATTGTACAGCTTCAACTTCAAAACTTCTTGTGGTTTCACTTCACATATCTAGAAACATCTCTTCCTGAACTAACGGACATACGGGGTTATTCAAGGATAGAAGGATAGAAACCAGAACCCTTCAATGCTAACTTTTCCCAATGTTTAATCCCCGTGCCTGCCAAGAATTTTTATCATGTTTCTTATTTGCTGCCATT... |
Task1_train_9182 | Given this context: Chromosome 5, gene PDE4D (phosphodiesterase 4D) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | AGGACTTCCTACACGTTATGTGGCTGTCCATTAAGGAAGAGTAGTTGCTACACTTAAAACCGTTTCTCAGGGATGTTCCTGATATAGTTCTTAATCCCATGGTGAAATCATTAAAACCAAATAGGATTAGTTGTATTGGTGTTTGTTAATATATTGTTAATATTCTTAAAAACTGCCTAGTTGGCTGTTTAACTTTTCTCTGTAAACCAAGAGTAAAAGCTAGTCATGATATACAACCTCGTGGTTGAAATGAATGTTAACCCTAACTTAACTACCTGTTTCTTTTCACCGGTGACAATGGTAGTGATATATTTGACAAG... | AGGACTTCCTACACGTTATGTGGCTGTCCATTAAGGAAGAGTAGTTGCTACACTTAAAACCGTTTCTCAGGGATGTTCCTGATATAGTTCTTAATCCCATGGTGAAATCATTAAAACCAAATAGGATTAGTTGTATTGGTGTTTGTTAATATATTGTTAATATTCTTAAAAACTGCCTAGTTGGCTGTTTAACTTTTCTCTGTAAACCAAGAGTAAAAGCTAGTCATGATATACAACCTCGTGGTTGAAATGAATGTTAACCCTAACTTAACTACCTGTTTCTTTTCACCGGTGACAATGGTAGTGATATATTTGACAAG... |
Task1_train_9183 | Gene PDE4D (phosphodiesterase 4D) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TTATGTGGCTGTCCATTAAGGAAGAGTAGTTGCTACACTTAAAACCGTTTCTCAGGGATGTTCCTGATATAGTTCTTAATCCCATGGTGAAATCATTAAAACCAAATAGGATTAGTTGTATTGGTGTTTGTTAATATATTGTTAATATTCTTAAAAACTGCCTAGTTGGCTGTTTAACTTTTCTCTGTAAACCAAGAGTAAAAGCTAGTCATGATATACAACCTCGTGGTTGAAATGAATGTTAACCCTAACTTAACTACCTGTTTCTTTTCACCGGTGACAATGGTAGTGATATATTTGACAAGACCTCATCTAGCAAA... | TTATGTGGCTGTCCATTAAGGAAGAGTAGTTGCTACACTTAAAACCGTTTCTCAGGGATGTTCCTGATATAGTTCTTAATCCCATGGTGAAATCATTAAAACCAAATAGGATTAGTTGTATTGGTGTTTGTTAATATATTGTTAATATTCTTAAAAACTGCCTAGTTGGCTGTTTAACTTTTCTCTGTAAACCAAGAGTAAAAGCTAGTCATGATATACAACCTCGTGGTTGAAATGAATGTTAACCCTAACTTAACTACCTGTTTCTTTTCACCGGTGACAATGGTAGTGATATATTTGACAAGACCTCATCTAGCAAA... |
Task1_train_9184 | This mutation occurs in PDE4D (phosphodiesterase 4D) on Chromosome 5. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Acrodysostosis 2 with or without hormone resistance | GATATAACACACATAAAAGTATTATAGAACAAATAGTCACTTTGCACATGAAGAAAAACACTGGTGAAGAGCAACTCTGCTTATCTGGAAAGAGTGAAACAAAATGCAAAGTAAATAATAAAGACTTACAAAAAGGGTTTCCTGCAACATAAAGTTGTTTTTCTCTTTTAAAATATGGAAGTCATTGGTATATAAAACAAACAATGAATCACTACAAATCAGTTAATTGCTATGAACTATAAGGTGCAAGTAAAATTCATAAATTAGATTTTTATCCAGTGTAGCACAGATTTGTACTGAAAACTTGCAAGTTACTCCTT... | GATATAACACACATAAAAGTATTATAGAACAAATAGTCACTTTGCACATGAAGAAAAACACTGGTGAAGAGCAACTCTGCTTATCTGGAAAGAGTGAAACAAAATGCAAAGTAAATAATAAAGACTTACAAAAAGGGTTTCCTGCAACATAAAGTTGTTTTTCTCTTTTAAAATATGGAAGTCATTGGTATATAAAACAAACAATGAATCACTACAAATCAGTTAATTGCTATGAACTATAAGGTGCAAGTAAAATTCATAAATTAGATTTTTATCCAGTGTAGCACAGATTTGTACTGAAAACTTGCAAGTTACTCCTT... |
Task1_train_9185 | This alteration occurs within gene PDE4D (phosphodiesterase 4D) located on Chromosome 5. Is it associated with a disease or is it a benign variant? | Pathogenic; Acrodysostosis 2 with or without hormone resistance | CTCTCTTGAAAATAATTTGGAGTAGATTTTATCTGCTTTGTCAGCTCTACCAAGCTGAAATCTTGTTAAAAACGCTGTTCGTGAAGATGTCCACCTTGCTCGGATGACATGGAGGTGAAAAAACTGGTTACGATATTCCTGAGCGCTGGACTGAGTAGTCAAGGTCAGTTTTGTTCAACAAACGTCCTGGCAGATGACAGTGAGGTGTGACCGTGGTTGTGGCATGTGACATGCACTTTGGAAACAATTTTTCTACTTAAAAAAAAAAAAGGCATGAAAGTTTTTGCACTGTTACGTGTCAGGAGAACGATCATCTATGA... | CTCTCTTGAAAATAATTTGGAGTAGATTTTATCTGCTTTGTCAGCTCTACCAAGCTGAAATCTTGTTAAAAACGCTGTTCGTGAAGATGTCCACCTTGCTCGGATGACATGGAGGTGAAAAAACTGGTTACGATATTCCTGAGCGCTGGACTGAGTAGTCAAGGTCAGTTTTGTTCAACAAACGTCCTGGCAGATGACAGTGAGGTGTGACCGTGGTTGTGGCATGTGACATGCACTTTGGAAACAATTTTTCTACTTAAAAAAAAAAAAGGCATGAAAGTTTTTGCACTGTTACGTGTCAGGAGAACGATCATCTATGA... |
Task1_train_9186 | This variant affects the gene PDE4D (phosphodiesterase 4D) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Acrodysostosis 2 with or without hormone resistance | GATTGTTTTAAACAATGATTCATTTTAAATGTTAACAGACACACCATGTAAGCATAGGCAAACTTTAGGCACATTTACTTAAATGTACTGAAAATTGAACAGTATGGCTTAACCTTGTGACTTTGACATTACAACACATTTATGTACTTTTTAAGTATCAATCACAAAGCACTTCTTTAATGGATAAAATCTATTCACAAAACCTTAACTGTTTTCCTAAAACCCAGAAGACATGACAGATTTCTAACTCTTTAAGGCCAAACAATGAAATGAAGATGCAAATAATCACCCCCCAAACCCCTAAAACATACCAAACCACC... | GATTGTTTTAAACAATGATTCATTTTAAATGTTAACAGACACACCATGTAAGCATAGGCAAACTTTAGGCACATTTACTTAAATGTACTGAAAATTGAACAGTATGGCTTAACCTTGTGACTTTGACATTACAACACATTTATGTACTTTTTAAGTATCAATCACAAAGCACTTCTTTAATGGATAAAATCTATTCACAAAACCTTAACTGTTTTCCTAAAACCCAGAAGACATGACAGATTTCTAACTCTTTAAGGCCAAACAATGAAATGAAGATGCAAATAATCACCCCCCAAACCCCTAAAACATACCAAACCACC... |
Task1_train_9187 | The gene PDE4D (phosphodiesterase 4D) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | ACCATGTAAGCATAGGCAAACTTTAGGCACATTTACTTAAATGTACTGAAAATTGAACAGTATGGCTTAACCTTGTGACTTTGACATTACAACACATTTATGTACTTTTTAAGTATCAATCACAAAGCACTTCTTTAATGGATAAAATCTATTCACAAAACCTTAACTGTTTTCCTAAAACCCAGAAGACATGACAGATTTCTAACTCTTTAAGGCCAAACAATGAAATGAAGATGCAAATAATCACCCCCCAAACCCCTAAAACATACCAAACCACCTGTCTAAGGCACTTTAAAAGGAGCTTTATAAAATGCCTTCCC... | ACCATGTAAGCATAGGCAAACTTTAGGCACATTTACTTAAATGTACTGAAAATTGAACAGTATGGCTTAACCTTGTGACTTTGACATTACAACACATTTATGTACTTTTTAAGTATCAATCACAAAGCACTTCTTTAATGGATAAAATCTATTCACAAAACCTTAACTGTTTTCCTAAAACCCAGAAGACATGACAGATTTCTAACTCTTTAAGGCCAAACAATGAAATGAAGATGCAAATAATCACCCCCCAAACCCCTAAAACATACCAAACCACCTGTCTAAGGCACTTTAAAAGGAGCTTTATAAAATGCCTTCCC... |
Task1_train_9188 | This sequence variant lies in PDE4D (phosphodiesterase 4D) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Acrodysostosis 2 with or without hormone resistance | GTCGTGGGCTAGGAAAAAATATCCTAATTTTTCAGCCACAAGACATAAACATTGCTAGAATGACTACATTTTGAAAAAATTATCTTCTCACTTTACCTAGATTTCATTTTAACCAAACAGACCAACCTCTCCTATTAAACCTGTAAATTAACTCAAAGTCTAATCTGGGGCCTTCATAATAAAGATTTTTTTTTTAAATCCCTGTCTTATCTGGTGCCTTTAAAAGAAAGGAATCATTTTAGGCAATTATTATGACCTAAAAAATTTTTAAATCTTAACGTATAGATTAATTCCTTGACAGCTGAAGTCATTTACAATAC... | GTCGTGGGCTAGGAAAAAATATCCTAATTTTTCAGCCACAAGACATAAACATTGCTAGAATGACTACATTTTGAAAAAATTATCTTCTCACTTTACCTAGATTTCATTTTAACCAAACAGACCAACCTCTCCTATTAAACCTGTAAATTAACTCAAAGTCTAATCTGGGGCCTTCATAATAAAGATTTTTTTTTTAAATCCCTGTCTTATCTGGTGCCTTTAAAAGAAAGGAATCATTTTAGGCAATTATTATGACCTAAAAAATTTTTAAATCTTAACGTATAGATTAATTCCTTGACAGCTGAAGTCATTTACAATAC... |
Task1_train_9189 | Located on Chromosome 5, this mutation impacts PDE4D (phosphodiesterase 4D). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | TTCAGCCACAAGACATAAACATTGCTAGAATGACTACATTTTGAAAAAATTATCTTCTCACTTTACCTAGATTTCATTTTAACCAAACAGACCAACCTCTCCTATTAAACCTGTAAATTAACTCAAAGTCTAATCTGGGGCCTTCATAATAAAGATTTTTTTTTTAAATCCCTGTCTTATCTGGTGCCTTTAAAAGAAAGGAATCATTTTAGGCAATTATTATGACCTAAAAAATTTTTAAATCTTAACGTATAGATTAATTCCTTGACAGCTGAAGTCATTTACAATACATTATTAAATTTCACATTCAGTTTTAAATC... | TTCAGCCACAAGACATAAACATTGCTAGAATGACTACATTTTGAAAAAATTATCTTCTCACTTTACCTAGATTTCATTTTAACCAAACAGACCAACCTCTCCTATTAAACCTGTAAATTAACTCAAAGTCTAATCTGGGGCCTTCATAATAAAGATTTTTTTTTTAAATCCCTGTCTTATCTGGTGCCTTTAAAAGAAAGGAATCATTTTAGGCAATTATTATGACCTAAAAAATTTTTAAATCTTAACGTATAGATTAATTCCTTGACAGCTGAAGTCATTTACAATACATTATTAAATTTCACATTCAGTTTTAAATC... |
Task1_train_9190 | Assess the clinical impact of this variant on gene PDE4D (phosphodiesterase 4D), found on Chromosome 5. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | TGAACTCAAATTGGAATGATTGGTTCTATGTTTGATGATGTTACTTACATTGTTATGCCATATTTTGTCTGTTCACCTCTCTCTGAGGTCTTAGATATAGAATTATAAGTTTTCTTTCTTTCCTTTTTTTTTCTTGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTATCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGTCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCATCAAG... | TGAACTCAAATTGGAATGATTGGTTCTATGTTTGATGATGTTACTTACATTGTTATGCCATATTTTGTCTGTTCACCTCTCTCTGAGGTCTTAGATATAGAATTATAAGTTTTCTTTCTTTCCTTTTTTTTTCTTGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTATCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGTCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCATCAAG... |
Task1_train_9191 | Given this context: Chromosome 5, gene PDE4D (phosphodiesterase 4D) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Acrodysostosis 2 with or without hormone resistance | TCAAATTGGAATGATTGGTTCTATGTTTGATGATGTTACTTACATTGTTATGCCATATTTTGTCTGTTCACCTCTCTCTGAGGTCTTAGATATAGAATTATAAGTTTTCTTTCTTTCCTTTTTTTTTCTTGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTATCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGTCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCATCAAGTTGGC... | TCAAATTGGAATGATTGGTTCTATGTTTGATGATGTTACTTACATTGTTATGCCATATTTTGTCTGTTCACCTCTCTCTGAGGTCTTAGATATAGAATTATAAGTTTTCTTTCTTTCCTTTTTTTTTCTTGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTATCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGTCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCATCAAGTTGGC... |
Task1_train_9192 | A variant was discovered on Chromosome 5, affecting PDE4D (phosphodiesterase 4D). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Acrodysostosis 2 with or without hormone resistance | TCAAATTGGAATGATTGGTTCTATGTTTGATGATGTTACTTACATTGTTATGCCATATTTTGTCTGTTCACCTCTCTCTGAGGTCTTAGATATAGAATTATAAGTTTTCTTTCTTTCCTTTTTTTTTCTTGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTATCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGTCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCATCAAGTTGGC... | TCAAATTGGAATGATTGGTTCTATGTTTGATGATGTTACTTACATTGTTATGCCATATTTTGTCTGTTCACCTCTCTCTGAGGTCTTAGATATAGAATTATAAGTTTTCTTTCTTTCCTTTTTTTTTCTTGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTATCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGTCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCATCAAGTTGGC... |
Task1_train_9193 | Gene PDE4D (phosphodiesterase 4D) on Chromosome 5 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Acrodysostosis 2 with or without hormone resistance | AATTGGAATGATTGGTTCTATGTTTGATGATGTTACTTACATTGTTATGCCATATTTTGTCTGTTCACCTCTCTCTGAGGTCTTAGATATAGAATTATAAGTTTTCTTTCTTTCCTTTTTTTTTCTTGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTATCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGTCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCATCAAGTTGGCCAG... | AATTGGAATGATTGGTTCTATGTTTGATGATGTTACTTACATTGTTATGCCATATTTTGTCTGTTCACCTCTCTCTGAGGTCTTAGATATAGAATTATAAGTTTTCTTTCTTTCCTTTTTTTTTCTTGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTATCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGTCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCATCAAGTTGGCCAG... |
Task1_train_9194 | A variant found in Chromosome 5 affects PDE4D (phosphodiesterase 4D). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Acrodysostosis 2 with or without hormone resistance | ATTGGAATGATTGGTTCTATGTTTGATGATGTTACTTACATTGTTATGCCATATTTTGTCTGTTCACCTCTCTCTGAGGTCTTAGATATAGAATTATAAGTTTTCTTTCTTTCCTTTTTTTTTCTTGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTATCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGTCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCATCAAGTTGGCCAGG... | ATTGGAATGATTGGTTCTATGTTTGATGATGTTACTTACATTGTTATGCCATATTTTGTCTGTTCACCTCTCTCTGAGGTCTTAGATATAGAATTATAAGTTTTCTTTCTTTCCTTTTTTTTTCTTGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTATCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGTCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCATCAAGTTGGCCAGG... |
Task1_train_9195 | A variant was discovered on Chromosome 5, affecting PDE4D (phosphodiesterase 4D). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Acrodysostosis 2 with or without hormone resistance | TTCTGTTTGCTGTCCCAGTACTTTAACTGTTGTCTTGTTTCCCCTAGCCTTATCATGTACAAACCAATTCATCACCTGTTATCTGTCATGTTTTCTACTCTCTGCCCTTTGTTCCTCATCACCATGTACGTACATCACCATGTACGTACTCATTCATGGACAAAAATCAGCACTCTCTTTGATTCTCCTTCTCCACTGGCTGTCCCCCAACATACATACATACTTCACACACACACACACACACACACACACACACACACACACACACACAACCATTCTATAAGCCTCTTGCATCTAAACCAGCTCTTTGCTCCACTGCC... | TTCTGTTTGCTGTCCCAGTACTTTAACTGTTGTCTTGTTTCCCCTAGCCTTATCATGTACAAACCAATTCATCACCTGTTATCTGTCATGTTTTCTACTCTCTGCCCTTTGTTCCTCATCACCATGTACGTACATCACCATGTACGTACTCATTCATGGACAAAAATCAGCACTCTCTTTGATTCTCCTTCTCCACTGGCTGTCCCCCAACATACATACATACTTCACACACACACACACACACACACACACACACACACACACACACACAACCATTCTATAAGCCTCTTGCATCTAAACCAGCTCTTTGCTCCACTGCC... |
Task1_train_9196 | A mutation on Chromosome 5 affecting ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; UV-sensitive syndrome 2 | GTTATATTTCCTAACATGGCTTACAGTGTTAACTTGGGTTTAATGTATACAGCAATTCCCAAAGAGCAGGACACAATAATTACATAAAGAAATGTAAAATAAATGGCTAAACCTAATTATTTGACCATATTAAGCTTTATACAGAAGAATATTCTGACACCAAAAGCAGCTGTATGCTAAAGTTAATCAAGCCACAATAAACCAAATTAGACGTGATAAAATCTGGAAGTATGCATATGGCATTGGGTAGCTACTTAAAGATTTATCAAAAGGTATTTTTTTCTCTTTATTTGGATTAAGGACAAAAGAAAATAATTCAC... | GTTATATTTCCTAACATGGCTTACAGTGTTAACTTGGGTTTAATGTATACAGCAATTCCCAAAGAGCAGGACACAATAATTACATAAAGAAATGTAAAATAAATGGCTAAACCTAATTATTTGACCATATTAAGCTTTATACAGAAGAATATTCTGACACCAAAAGCAGCTGTATGCTAAAGTTAATCAAGCCACAATAAACCAAATTAGACGTGATAAAATCTGGAAGTATGCATATGGCATTGGGTAGCTACTTAAAGATTTATCAAAAGGTATTTTTTTCTCTTTATTTGGATTAAGGACAAAAGAAAATAATTCAC... |
Task1_train_9197 | Mutation context: Chromosome 5, Gene ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; UV-sensitive syndrome 2 | TGGCGCGATCTCGGCTCACCGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGTGTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCACCTCCGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCGACCGTGCCTGGCCTGTCAACTTTAAAATAAAAAAAAGAAGTTACTAAACGGCAGGACTGGTTCTATCTGATAGCCCTTTAAAAATCTGAAGACAGTG... | TGGCGCGATCTCGGCTCACCGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGTGTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCACCTCCGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCGACCGTGCCTGGCCTGTCAACTTTAAAATAAAAAAAAGAAGTTACTAAACGGCAGGACTGGTTCTATCTGATAGCCCTTTAAAAATCTGAAGACAGTG... |
Task1_train_9198 | A variant has been detected on Chromosome 5 in ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Cockayne syndrome type 1 | TGGCGCGATCTCGGCTCACCGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGTGTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCACCTCCGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCGACCGTGCCTGGCCTGTCAACTTTAAAATAAAAAAAAGAAGTTACTAAACGGCAGGACTGGTTCTATCTGATAGCCCTTTAAAAATCTGAAGACAGTG... | TGGCGCGATCTCGGCTCACCGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGTGTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCACCTCCGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCGACCGTGCCTGGCCTGTCAACTTTAAAATAAAAAAAAGAAGTTACTAAACGGCAGGACTGGTTCTATCTGATAGCCCTTTAAAAATCTGAAGACAGTG... |
Task1_train_9199 | Gene ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Inborn genetic diseases | TGGCGCGATCTCGGCTCACCGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGTGTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCACCTCCGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCGACCGTGCCTGGCCTGTCAACTTTAAAATAAAAAAAAGAAGTTACTAAACGGCAGGACTGGTTCTATCTGATAGCCCTTTAAAAATCTGAAGACAGTG... | TGGCGCGATCTCGGCTCACCGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGTGTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCACCTCCGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCGACCGTGCCTGGCCTGTCAACTTTAAAATAAAAAAAAGAAGTTACTAAACGGCAGGACTGGTTCTATCTGATAGCCCTTTAAAAATCTGAAGACAGTG... |
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