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_28700 | This sequence change occurs on Chromosome 22, altering NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Neurofibromatosis, type 2 | ATATACATTTATGTGGTTGGGATCCGGGATCAGGGTGAAGCTGTTCTGTGTCTGCTATTTTATAGTTTGTATTTTGTTACTATCTTAGTTTGTTTTGGCTACTGTAACAAAATACCAGAGGCTGGGTAGCTTATAAACAACAGAAATTTATTTCTTGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGTCCAAGGGGGGCAGATCTCTTGAGCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTGTGGTC... | ATATACATTTATGTGGTTGGGATCCGGGATCAGGGTGAAGCTGTTCTGTGTCTGCTATTTTATAGTTTGTATTTTGTTACTATCTTAGTTTGTTTTGGCTACTGTAACAAAATACCAGAGGCTGGGTAGCTTATAAACAACAGAAATTTATTTCTTGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGTCCAAGGGGGGCAGATCTCTTGAGCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTGTGGTC... |
Task1_train_28701 | A variant was discovered in gene MORC2 (MORC family CW-type zinc finger 2), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2Z | AAGGAAAGGTGGGATTTAGCAGCTAGGGAGGCATATAAAACATCATGGGTTAGTGAGAGCACATCTGCACAGACACAGAAGCCAAAAAGGGAAATGGTTGTGTACTAAATATGATAAACAGATGATATCACAGACATATCTAGAAAAAAACATAGAAAAAATAAAAATGTAAGTGAATAAGCAGTTTAAAAGGAATAAAAGTGGACACATGAAAAATTATGCAATCTTAGAAATATTAAGGAAATTAAATTATAAAACATGCATCTTTGCCTATGAAATTTGCAACAACATTTAAAAATAATGCTCTCATATACTGCTGG... | AAGGAAAGGTGGGATTTAGCAGCTAGGGAGGCATATAAAACATCATGGGTTAGTGAGAGCACATCTGCACAGACACAGAAGCCAAAAAGGGAAATGGTTGTGTACTAAATATGATAAACAGATGATATCACAGACATATCTAGAAAAAAACATAGAAAAAATAAAAATGTAAGTGAATAAGCAGTTTAAAAGGAATAAAAGTGGACACATGAAAAATTATGCAATCTTAGAAATATTAAGGAAATTAAATTATAAAACATGCATCTTTGCCTATGAAATTTGCAACAACATTTAAAAATAATGCTCTCATATACTGCTGG... |
Task1_train_28702 | Gene MORC2 (MORC family CW-type zinc finger 2) on Chromosome 22 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2Z | TTGCAACAACATTTAAAAATAATGCTCTCATATACTGCTGGTAAATAATAGAAATTAACACATCTCTGGAGGGTACTTTAGAAATAGTTGCAAAAAGCCATAGAATTTTACAATGGACCTTTTAAGTCCTTTAATTTCACTTCTAGAAAGTCATCAAAACAATTATGTGTATGTGTATGTATTAATATAAAACATATACATGGCATTATCTCCCTATTTCTATTAAAAAATATATGTGTGTTATGTGTAGGTATTCATGAGTTCATGACAAGTTGGAAGGATGTATGGTTAATGATGGTTACCTCTAAGGCAGAATTTTT... | TTGCAACAACATTTAAAAATAATGCTCTCATATACTGCTGGTAAATAATAGAAATTAACACATCTCTGGAGGGTACTTTAGAAATAGTTGCAAAAAGCCATAGAATTTTACAATGGACCTTTTAAGTCCTTTAATTTCACTTCTAGAAAGTCATCAAAACAATTATGTGTATGTGTATGTATTAATATAAAACATATACATGGCATTATCTCCCTATTTCTATTAAAAAATATATGTGTGTTATGTGTAGGTATTCATGAGTTCATGACAAGTTGGAAGGATGTATGGTTAATGATGGTTACCTCTAAGGCAGAATTTTT... |
Task1_train_28703 | A variant was discovered on Chromosome 22, affecting MORC2 (MORC family CW-type zinc finger 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Inborn genetic diseases | CAAAAAAGGGCTGAGAGCTAGGATTAAGACTTCCCTCCTGCAGGAGGCATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTA... | CAAAAAAGGGCTGAGAGCTAGGATTAAGACTTCCCTCCTGCAGGAGGCATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTA... |
Task1_train_28704 | Given this context: Chromosome 22, gene MORC2 (MORC family CW-type zinc finger 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | CAAAAAAGGGCTGAGAGCTAGGATTAAGACTTCCCTCCTGCAGGAGGCATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTA... | CAAAAAAGGGCTGAGAGCTAGGATTAAGACTTCCCTCCTGCAGGAGGCATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTA... |
Task1_train_28705 | Here is a mutation in MORC2 (MORC family CW-type zinc finger 2) on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2Z | CAAAAAAGGGCTGAGAGCTAGGATTAAGACTTCCCTCCTGCAGGAGGCATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTA... | CAAAAAAGGGCTGAGAGCTAGGATTAAGACTTCCCTCCTGCAGGAGGCATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTA... |
Task1_train_28706 | Here is a mutation in MORC2 (MORC family CW-type zinc finger 2) on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2Z | CATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTACATCTAAGACATCTCAATTTATCTCAAAGATGTAAAACCACACCTGG... | CATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTACATCTAAGACATCTCAATTTATCTCAAAGATGTAAAACCACACCTGG... |
Task1_train_28707 | Given a variant located on Chromosome 22 and affecting MORC2 (MORC family CW-type zinc finger 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | CATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTACATCTAAGACATCTCAATTTATCTCAAAGATGTAAAACCACACCTGG... | CATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTACATCTAAGACATCTCAATTTATCTCAAAGATGTAAAACCACACCTGG... |
Task1_train_28708 | The gene MORC2 (MORC family CW-type zinc finger 2) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2Z | AATGGCATCACTTTAAACATTGGCTTTCACTCCCATGGGCACCCCATCCCTCCCCTCAGGAACACTTCTCCTTTAGTTCAATGGTACACTTGCCCAGTTTTCTTCCTACCTTTCTGGCTACCCCTTTGTCCCTCTGGCCCCCTTCTCCTCTCCCCGACCTTTAGATATTGACATGCTCTAGGTCCCAGATCCTCTTCTCACTCTATTCTCTCCATTAGGTGACCTCGTTTGCTACCAAGAATGCTGAAGCCCCCAGACTTCCCCCAAATGCCAGACCCAGACTGCACTTTGCATGTCCAGAAGAAACTTACACTCTTCCC... | AATGGCATCACTTTAAACATTGGCTTTCACTCCCATGGGCACCCCATCCCTCCCCTCAGGAACACTTCTCCTTTAGTTCAATGGTACACTTGCCCAGTTTTCTTCCTACCTTTCTGGCTACCCCTTTGTCCCTCTGGCCCCCTTCTCCTCTCCCCGACCTTTAGATATTGACATGCTCTAGGTCCCAGATCCTCTTCTCACTCTATTCTCTCCATTAGGTGACCTCGTTTGCTACCAAGAATGCTGAAGCCCCCAGACTTCCCCCAAATGCCAGACCCAGACTGCACTTTGCATGTCCAGAAGAAACTTACACTCTTCCC... |
Task1_train_28709 | This gene mutation involves MORC2 (MORC family CW-type zinc finger 2) on Chromosome 22. Is it associated with any clinical condition, or is it benign? | Pathogenic; Inborn genetic diseases | TCAAAGCATGCCCTTGCCCTAATTTGGCAAAAACTCTCACTTTGTGCCTCTATCTTCCTTCTGTCTTTGATTCTGACTTTAGCCTTTGAATAGCAAAAGCCCCAAATATCACTTCTCTAACTGGCTTCCTTGCTTCTCAGCCCTATTCTCCCCACAAATCACCTTCTCCTGAAACTTATTCAACTTCTGAATTGGTTTCAAGATGATTTTACTGTCTACTCTGAACACTAGATGGCTCCATCTCAATGGGACCTTCACAAAAGTCTTCCACTGAAATACGCTAATAACACTCTCAACTTCTATACGCTTTCCTTCCCAGT... | TCAAAGCATGCCCTTGCCCTAATTTGGCAAAAACTCTCACTTTGTGCCTCTATCTTCCTTCTGTCTTTGATTCTGACTTTAGCCTTTGAATAGCAAAAGCCCCAAATATCACTTCTCTAACTGGCTTCCTTGCTTCTCAGCCCTATTCTCCCCACAAATCACCTTCTCCTGAAACTTATTCAACTTCTGAATTGGTTTCAAGATGATTTTACTGTCTACTCTGAACACTAGATGGCTCCATCTCAATGGGACCTTCACAAAAGTCTTCCACTGAAATACGCTAATAACACTCTCAACTTCTATACGCTTTCCTTCCCAGT... |
Task1_train_28710 | The following genetic variant occurs in MORC2 (MORC family CW-type zinc finger 2) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2Z | TCAAAGCATGCCCTTGCCCTAATTTGGCAAAAACTCTCACTTTGTGCCTCTATCTTCCTTCTGTCTTTGATTCTGACTTTAGCCTTTGAATAGCAAAAGCCCCAAATATCACTTCTCTAACTGGCTTCCTTGCTTCTCAGCCCTATTCTCCCCACAAATCACCTTCTCCTGAAACTTATTCAACTTCTGAATTGGTTTCAAGATGATTTTACTGTCTACTCTGAACACTAGATGGCTCCATCTCAATGGGACCTTCACAAAAGTCTTCCACTGAAATACGCTAATAACACTCTCAACTTCTATACGCTTTCCTTCCCAGT... | TCAAAGCATGCCCTTGCCCTAATTTGGCAAAAACTCTCACTTTGTGCCTCTATCTTCCTTCTGTCTTTGATTCTGACTTTAGCCTTTGAATAGCAAAAGCCCCAAATATCACTTCTCTAACTGGCTTCCTTGCTTCTCAGCCCTATTCTCCCCACAAATCACCTTCTCCTGAAACTTATTCAACTTCTGAATTGGTTTCAAGATGATTTTACTGTCTACTCTGAACACTAGATGGCTCCATCTCAATGGGACCTTCACAAAAGTCTTCCACTGAAATACGCTAATAACACTCTCAACTTCTATACGCTTTCCTTCCCAGT... |
Task1_train_28711 | The gene MORC2 (MORC family CW-type zinc finger 2) on Chromosome 22 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | TCAAAGCATGCCCTTGCCCTAATTTGGCAAAAACTCTCACTTTGTGCCTCTATCTTCCTTCTGTCTTTGATTCTGACTTTAGCCTTTGAATAGCAAAAGCCCCAAATATCACTTCTCTAACTGGCTTCCTTGCTTCTCAGCCCTATTCTCCCCACAAATCACCTTCTCCTGAAACTTATTCAACTTCTGAATTGGTTTCAAGATGATTTTACTGTCTACTCTGAACACTAGATGGCTCCATCTCAATGGGACCTTCACAAAAGTCTTCCACTGAAATACGCTAATAACACTCTCAACTTCTATACGCTTTCCTTCCCAGT... | TCAAAGCATGCCCTTGCCCTAATTTGGCAAAAACTCTCACTTTGTGCCTCTATCTTCCTTCTGTCTTTGATTCTGACTTTAGCCTTTGAATAGCAAAAGCCCCAAATATCACTTCTCTAACTGGCTTCCTTGCTTCTCAGCCCTATTCTCCCCACAAATCACCTTCTCCTGAAACTTATTCAACTTCTGAATTGGTTTCAAGATGATTTTACTGTCTACTCTGAACACTAGATGGCTCCATCTCAATGGGACCTTCACAAAAGTCTTCCACTGAAATACGCTAATAACACTCTCAACTTCTATACGCTTTCCTTCCCAGT... |
Task1_train_28712 | This variant affects gene MORC2 (MORC family CW-type zinc finger 2) located on Chromosome 22. Evaluate its biological effect and specify any disease association. | Pathogenic; Global developmental delay | TCAAAGCATGCCCTTGCCCTAATTTGGCAAAAACTCTCACTTTGTGCCTCTATCTTCCTTCTGTCTTTGATTCTGACTTTAGCCTTTGAATAGCAAAAGCCCCAAATATCACTTCTCTAACTGGCTTCCTTGCTTCTCAGCCCTATTCTCCCCACAAATCACCTTCTCCTGAAACTTATTCAACTTCTGAATTGGTTTCAAGATGATTTTACTGTCTACTCTGAACACTAGATGGCTCCATCTCAATGGGACCTTCACAAAAGTCTTCCACTGAAATACGCTAATAACACTCTCAACTTCTATACGCTTTCCTTCCCAGT... | TCAAAGCATGCCCTTGCCCTAATTTGGCAAAAACTCTCACTTTGTGCCTCTATCTTCCTTCTGTCTTTGATTCTGACTTTAGCCTTTGAATAGCAAAAGCCCCAAATATCACTTCTCTAACTGGCTTCCTTGCTTCTCAGCCCTATTCTCCCCACAAATCACCTTCTCCTGAAACTTATTCAACTTCTGAATTGGTTTCAAGATGATTTTACTGTCTACTCTGAACACTAGATGGCTCCATCTCAATGGGACCTTCACAAAAGTCTTCCACTGAAATACGCTAATAACACTCTCAACTTCTATACGCTTTCCTTCCCAGT... |
Task1_train_28713 | A mutation on Chromosome 22 affecting MORC2 (MORC family CW-type zinc finger 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Inborn genetic diseases | GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTT... | GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTT... |
Task1_train_28714 | This variant lies on Chromosome 22 and affects the gene MORC2 (MORC family CW-type zinc finger 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2Z | GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTT... | GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTT... |
Task1_train_28715 | A mutation in MORC2 (MORC family CW-type zinc finger 2), located on Chromosome 22, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; MORC2-related neurodevelopmental disorders | GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTT... | GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTT... |
Task1_train_28716 | Located on Chromosome 22, this mutation impacts MORC2 (MORC family CW-type zinc finger 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTT... | GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTT... |
Task1_train_28717 | A sequence alteration has been identified in MORC2 (MORC family CW-type zinc finger 2) on Chromosome 22. Is it disease-inducing or harmless? | Pathogenic; MORC2-related disorder | GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTT... | GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTT... |
Task1_train_28718 | The gene MORC2 (MORC family CW-type zinc finger 2) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Neurodevelopmental disorder | GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTT... | GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTT... |
Task1_train_28719 | This variant affects the gene SLC5A1 (solute carrier family 5 member 1) found on Chromosome 22. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Congenital glucose-galactose malabsorption | ATCTCTGTCATTGGTCAGGAAGCTCTGTGAGGGCAAGAGCTCTGTGTCTTTTCATAGCTGTATTCCAGGGTCGGTACATATGATCTGGCACATAGAAGCTGCTCTTTTGTTGTAAGAATAAATGAATGAATGAATGGATGCATTTTCTGACCTCTACCTGGGCACCATCCTTTCCTTTCTTTTCCCATTTATGTTTGGCTCTCCTAAAAGATCAAAGAATGGCTCTGTCCCTCCTTTGAAGTCCTTTAGTACTTCCAGTTCTCTCTCCTGCTCGCTTCACTTTCTATGCCTTGTACTTTTGGAACTTGGCATGGCCTGGC... | ATCTCTGTCATTGGTCAGGAAGCTCTGTGAGGGCAAGAGCTCTGTGTCTTTTCATAGCTGTATTCCAGGGTCGGTACATATGATCTGGCACATAGAAGCTGCTCTTTTGTTGTAAGAATAAATGAATGAATGAATGGATGCATTTTCTGACCTCTACCTGGGCACCATCCTTTCCTTTCTTTTCCCATTTATGTTTGGCTCTCCTAAAAGATCAAAGAATGGCTCTGTCCCTCCTTTGAAGTCCTTTAGTACTTCCAGTTCTCTCTCCTGCTCGCTTCACTTTCTATGCCTTGTACTTTTGGAACTTGGCATGGCCTGGC... |
Task1_train_28720 | Chromosome 22 houses a mutation in gene SLC5A1 (solute carrier family 5 member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Congenital glucose-galactose malabsorption | GAGCCCCTGTAAGGAGGGAGAAAGGCAGTGACTCACACACAGAGGTTTCAGAAGAGGACTCAAGTGGCCACCCAAGAAGCTGGTGCATAAATAGCAATTGGGGCTCCTTTGCAGAGGGGTCACTCTGCCTCCTTGGTGGGGGTGGGAGGGATCAGCTTTAGAACTTGCTGCTTGACTGCAGCCCCACAGCTTTGGGGACTAAGAAAAAGGTAGACATATGTCCCACCATCTCCACAGCCAGCTCTTTGCTCCTCCCTGCCTTGTGTGTGGAAGACGCTTCTTCTTACCACAGAGGAGTCATCTCCTTTGAGCCATCTTCT... | GAGCCCCTGTAAGGAGGGAGAAAGGCAGTGACTCACACACAGAGGTTTCAGAAGAGGACTCAAGTGGCCACCCAAGAAGCTGGTGCATAAATAGCAATTGGGGCTCCTTTGCAGAGGGGTCACTCTGCCTCCTTGGTGGGGGTGGGAGGGATCAGCTTTAGAACTTGCTGCTTGACTGCAGCCCCACAGCTTTGGGGACTAAGAAAAAGGTAGACATATGTCCCACCATCTCCACAGCCAGCTCTTTGCTCCTCCCTGCCTTGTGTGTGGAAGACGCTTCTTCTTACCACAGAGGAGTCATCTCCTTTGAGCCATCTTCT... |
Task1_train_28721 | Given this context: Chromosome 22, gene SLC5A1 (solute carrier family 5 member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Congenital glucose-galactose malabsorption | GCAGAGGGGTCACTCTGCCTCCTTGGTGGGGGTGGGAGGGATCAGCTTTAGAACTTGCTGCTTGACTGCAGCCCCACAGCTTTGGGGACTAAGAAAAAGGTAGACATATGTCCCACCATCTCCACAGCCAGCTCTTTGCTCCTCCCTGCCTTGTGTGTGGAAGACGCTTCTTCTTACCACAGAGGAGTCATCTCCTTTGAGCCATCTTCTGGCTCAAAAGGGTCACACCAGACTCTTTCCCCTCAAGTAGGGAGAAACATTCGCCACTTCTATGACAGGTGGAGCTGTGGGAACATGCTGAATAGCAAAATACTGTAACA... | GCAGAGGGGTCACTCTGCCTCCTTGGTGGGGGTGGGAGGGATCAGCTTTAGAACTTGCTGCTTGACTGCAGCCCCACAGCTTTGGGGACTAAGAAAAAGGTAGACATATGTCCCACCATCTCCACAGCCAGCTCTTTGCTCCTCCCTGCCTTGTGTGTGGAAGACGCTTCTTCTTACCACAGAGGAGTCATCTCCTTTGAGCCATCTTCTGGCTCAAAAGGGTCACACCAGACTCTTTCCCCTCAAGTAGGGAGAAACATTCGCCACTTCTATGACAGGTGGAGCTGTGGGAACATGCTGAATAGCAAAATACTGTAACA... |
Task1_train_28722 | Assess the clinical impact of this variant on gene SLC5A1 (solute carrier family 5 member 1), found on Chromosome 22. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital glucose-galactose malabsorption | ACCAGCTGGAGCTGGAAGAATTTGAAGTTGGAGAGGGAAGACATGGCATTCAAGTCAGAGAACAGTACTGCCCAGACCTTTCAGGCAGAAGTAGGACAGGAGTGAGGGTGAAGGACTTGTATGGAATCTCACCTGGCTCAAGGAGAGTTTGTGAATGTGAAAGATGGAAGATGTGGCTGGAAAGGTAGGTCAGGGTTTCATTAACAGTGATCCCTTTGGTGGAATCTTTAGGTTTTTCTAAATATGAGATCATATCATATGTAAATGAGGCCAATTTGACTTCTTCTTTTCCAATTTGGATGCCCTTTTTCTCTTGCCTA... | ACCAGCTGGAGCTGGAAGAATTTGAAGTTGGAGAGGGAAGACATGGCATTCAAGTCAGAGAACAGTACTGCCCAGACCTTTCAGGCAGAAGTAGGACAGGAGTGAGGGTGAAGGACTTGTATGGAATCTCACCTGGCTCAAGGAGAGTTTGTGAATGTGAAAGATGGAAGATGTGGCTGGAAAGGTAGGTCAGGGTTTCATTAACAGTGATCCCTTTGGTGGAATCTTTAGGTTTTTCTAAATATGAGATCATATCATATGTAAATGAGGCCAATTTGACTTCTTCTTTTCCAATTTGGATGCCCTTTTTCTCTTGCCTA... |
Task1_train_28723 | A change on Chromosome 22 affects gene FBXO7 (F-box protein 7). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Parkinsonian-pyramidal syndrome | GATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGCGACTCCATCTCAAACAACAACAACAACAAAAAAAAACAAAAACAAACAAAAAACCAGACACAGCAGTAAAGTGGACACATCAGGTTATATATGACCCTGTCTCCTTTGTTCGGTGTACTCTCGTGACAAAACTGCTGGCGAGTATACCCTTTCTACAAAAAATAAAAATGGCCTTGCTAAAAAAATTAAATTTATATTCAAGTGCTATTTCTTTACAACATCAAAAAACAAACATTTCTAACAATCCCATTCCTCAGGTCTGTATTTATGTCTATCATAAAG... | GATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGCGACTCCATCTCAAACAACAACAACAACAAAAAAAAACAAAAACAAACAAAAAACCAGACACAGCAGTAAAGTGGACACATCAGGTTATATATGACCCTGTCTCCTTTGTTCGGTGTACTCTCGTGACAAAACTGCTGGCGAGTATACCCTTTCTACAAAAAATAAAAATGGCCTTGCTAAAAAAATTAAATTTATATTCAAGTGCTATTTCTTTACAACATCAAAAAACAAACATTTCTAACAATCCCATTCCTCAGGTCTGTATTTATGTCTATCATAAAG... |
Task1_train_28724 | Here’s a variant in FBXO7 (F-box protein 7) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Parkinsonian-pyramidal syndrome | AGAATAGTAAGTATACTTAATATTCTTGGTGAGTATGACATCTGACTGCCCTCTTTTCTGCTCCTGGCGAAATGTTCCTCTTCTAAGACTAAGCTTAATATTCCTTAAGTGCTATTTACTTTATCTTTGTATCTCCATGCCATTTTGTACATATTTTTATTGTAGTCTCTTTTCCATGGACTATAATTGTTGATATGATTTCTTTCCACCTAAGGTTGGGAATACCTTGAAGGTAGGGAATATATCTTACTTTTGTATTCTTGTGGTCTAGCATGAGGTCAGGTACATAATAGATGCTCTTTCTCTCTGTGTAGATACAT... | AGAATAGTAAGTATACTTAATATTCTTGGTGAGTATGACATCTGACTGCCCTCTTTTCTGCTCCTGGCGAAATGTTCCTCTTCTAAGACTAAGCTTAATATTCCTTAAGTGCTATTTACTTTATCTTTGTATCTCCATGCCATTTTGTACATATTTTTATTGTAGTCTCTTTTCCATGGACTATAATTGTTGATATGATTTCTTTCCACCTAAGGTTGGGAATACCTTGAAGGTAGGGAATATATCTTACTTTTGTATTCTTGTGGTCTAGCATGAGGTCAGGTACATAATAGATGCTCTTTCTCTCTGTGTAGATACAT... |
Task1_train_28725 | A mutation found in SYN3, TIMP3 (synapsin III| TIMP metallopeptidase inhibitor 3) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Retinal dystrophy | GATGTTCCTTTTGCCCACAGATGTACCGAGGCTTCACCAAGATGCCCCATGTGCAGTACATCCATACGGAAGCTTCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTG... | GATGTTCCTTTTGCCCACAGATGTACCGAGGCTTCACCAAGATGCCCCATGTGCAGTACATCCATACGGAAGCTTCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTG... |
Task1_train_28726 | Given this variant in gene SYN3, TIMP3 (synapsin III| TIMP metallopeptidase inhibitor 3) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | CCTTTTGCCCACAGATGTACCGAGGCTTCACCAAGATGCCCCATGTGCAGTACATCCATACGGAAGCTTCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTGGAATTA... | CCTTTTGCCCACAGATGTACCGAGGCTTCACCAAGATGCCCCATGTGCAGTACATCCATACGGAAGCTTCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTGGAATTA... |
Task1_train_28727 | Here’s a variant in SYN3, TIMP3 (synapsin III| TIMP metallopeptidase inhibitor 3) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Sorsby fundus dystrophy | GGCTTCACCAAGATGCCCCATGTGCAGTACATCCATACGGAAGCTTCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTGGAATTAGCTCCACCACTCACCTGGGGGAG... | GGCTTCACCAAGATGCCCCATGTGCAGTACATCCATACGGAAGCTTCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTGGAATTAGCTCCACCACTCACCTGGGGGAG... |
Task1_train_28728 | The gene SYN3, TIMP3 (synapsin III| TIMP metallopeptidase inhibitor 3) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | CCAAGATGCCCCATGTGCAGTACATCCATACGGAAGCTTCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTGGAATTAGCTCCACCACTCACCTGGGGGAGGAAATCT... | CCAAGATGCCCCATGTGCAGTACATCCATACGGAAGCTTCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTGGAATTAGCTCCACCACTCACCTGGGGGAGGAAATCT... |
Task1_train_28729 | Gene TIMP3, SYN3 (TIMP metallopeptidase inhibitor 3| synapsin III) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Sorsby fundus dystrophy | TCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTGGAATTAGCTCCACCACTCACCTGGGGGAGGAAATCTCCTAATTTGTAGCTTCTCAACTTTACTGTAAATAAAAA... | TCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTGGAATTAGCTCCACCACTCACCTGGGGGAGGAAATCTCCTAATTTGTAGCTTCTCAACTTTACTGTAAATAAAAA... |
Task1_train_28730 | A sequence alteration has been identified in LARGE1 (LARGE xylosyl- and glucuronyltransferase 1) on Chromosome 22. Is it disease-inducing or harmless? | Pathogenic; Retinitis pigmentosa | TGCTTTGTATATAGGCTATATACTTGTATGCTCTGTCTACATATATATTTACATACATACATAAGCCTAGCTAGATCTATGCAAAAATTAGTCCTAATGGTAATTTTCCTAATTCTTGTATAAATTTCCGTGTAACATCCACTTGAGCATGTAACATCGTGAGTGATCTCACAAACCGGATTGCTATAGGGTCCCACATGACTACCAGGCCCAAGGATGGGATGTTCCCTTTACAATTGATTACCAGGATTTACCCTCCTAGCCCACATCTGGTAGAAGACAACATCTGGCTCCAGTGTTGAGAAAGATGCGGAATGGAA... | TGCTTTGTATATAGGCTATATACTTGTATGCTCTGTCTACATATATATTTACATACATACATAAGCCTAGCTAGATCTATGCAAAAATTAGTCCTAATGGTAATTTTCCTAATTCTTGTATAAATTTCCGTGTAACATCCACTTGAGCATGTAACATCGTGAGTGATCTCACAAACCGGATTGCTATAGGGTCCCACATGACTACCAGGCCCAAGGATGGGATGTTCCCTTTACAATTGATTACCAGGATTTACCCTCCTAGCCCACATCTGGTAGAAGACAACATCTGGCTCCAGTGTTGAGAAAGATGCGGAATGGAA... |
Task1_train_28731 | Gene LARGE1 (LARGE xylosyl- and glucuronyltransferase 1) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Muscular dystrophy-dystroglycanopathy type B6 | ACTGTTTTTAACAGAGTCTGGTAGGGACTCCTCCCGCCCCAGGGGAGGGATTAACACTAGGAAACCCGGAGATGTCCCTGGAAGGACACGGACTCAGAAGCTGGAGAGAGAACACAGGCTGCCTGACCTTGCTCCAGACAGCGCAGGGCACGGAGGGTATGCAGGCTAAACCTACGCTTTGGCTTCCCGACAGAAAGTTTAAAGACTCCTAGAAGCTCTTTTCAGAGAGAAAGAGACAGAGGCAGTAAGAGAAAGATACTAAGAGACAGAGAGACGGAGTCAGAAGGAGGGAGGGAGAGCAAGAGAACGAGAGAGAAAGA... | ACTGTTTTTAACAGAGTCTGGTAGGGACTCCTCCCGCCCCAGGGGAGGGATTAACACTAGGAAACCCGGAGATGTCCCTGGAAGGACACGGACTCAGAAGCTGGAGAGAGAACACAGGCTGCCTGACCTTGCTCCAGACAGCGCAGGGCACGGAGGGTATGCAGGCTAAACCTACGCTTTGGCTTCCCGACAGAAAGTTTAAAGACTCCTAGAAGCTCTTTTCAGAGAGAAAGAGACAGAGGCAGTAAGAGAAAGATACTAAGAGACAGAGAGACGGAGTCAGAAGGAGGGAGGGAGAGCAAGAGAACGAGAGAGAAAGA... |
Task1_train_28732 | The gene LARGE1 (LARGE xylosyl- and glucuronyltransferase 1) on Chromosome 22 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 | GGGAGGGATTAACACTAGGAAACCCGGAGATGTCCCTGGAAGGACACGGACTCAGAAGCTGGAGAGAGAACACAGGCTGCCTGACCTTGCTCCAGACAGCGCAGGGCACGGAGGGTATGCAGGCTAAACCTACGCTTTGGCTTCCCGACAGAAAGTTTAAAGACTCCTAGAAGCTCTTTTCAGAGAGAAAGAGACAGAGGCAGTAAGAGAAAGATACTAAGAGACAGAGAGACGGAGTCAGAAGGAGGGAGGGAGAGCAAGAGAACGAGAGAGAAAGAAATCAGACCTTGCCTGGTTTGCGACAAACAGAAACCCCAGCG... | GGGAGGGATTAACACTAGGAAACCCGGAGATGTCCCTGGAAGGACACGGACTCAGAAGCTGGAGAGAGAACACAGGCTGCCTGACCTTGCTCCAGACAGCGCAGGGCACGGAGGGTATGCAGGCTAAACCTACGCTTTGGCTTCCCGACAGAAAGTTTAAAGACTCCTAGAAGCTCTTTTCAGAGAGAAAGAGACAGAGGCAGTAAGAGAAAGATACTAAGAGACAGAGAGACGGAGTCAGAAGGAGGGAGGGAGAGCAAGAGAACGAGAGAGAAAGAAATCAGACCTTGCCTGGTTTGCGACAAACAGAAACCCCAGCG... |
Task1_train_28733 | The gene LARGE1 (LARGE xylosyl- and glucuronyltransferase 1) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 | CTGAACACAGGCTGGCTCGCACTGTGAGGCATCTCTCTTGCCTGTTATCTCTAGGAACCAAGCAATAATGTTTGGATAGAGACGGGGGAATGTCCCAGGCTGACTGGAAGCTCCAGAGTCCTGCTGGTCTCATAAGGCCCTATCCAGTGAGCTCACATGTGCAGACATGGGGTGTCTTCCCTACCCTCACTGGCATATGAAAAACGAAGTCTCCTTCCCCTCTGGCCTCCTAGGCAGGAGCCCTGTGTTACCCATCCTGAGCCTCCTGGAGAGGAAACTGCATGATGACAAGTAGCCCCACTCATTCAGGGACTGAGACA... | CTGAACACAGGCTGGCTCGCACTGTGAGGCATCTCTCTTGCCTGTTATCTCTAGGAACCAAGCAATAATGTTTGGATAGAGACGGGGGAATGTCCCAGGCTGACTGGAAGCTCCAGAGTCCTGCTGGTCTCATAAGGCCCTATCCAGTGAGCTCACATGTGCAGACATGGGGTGTCTTCCCTACCCTCACTGGCATATGAAAAACGAAGTCTCCTTCCCCTCTGGCCTCCTAGGCAGGAGCCCTGTGTTACCCATCCTGAGCCTCCTGGAGAGGAAACTGCATGATGACAAGTAGCCCCACTCATTCAGGGACTGAGACA... |
Task1_train_28734 | Located on Chromosome 22, this mutation impacts TOM1 (target of myb1 membrane trafficking protein). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Immunodeficiency 85 and autoimmunity | ATGTCTCCCAACAGAACAAGAAAGATGGATCCCAGGGCAGCTCAGATGTCTCAGGAGCAGAAATTCCTGGACCATCTCCCCAGGGTGCTGCCATCAATAAATACATCAGCTCAAACACTTGTCCACAAACACCTGTCCACCTTTTTTTTTTTTTTTTTTTTGAGGCACGATCTTGCTCTGTCACCCAGGCTGGAGTATAGTGGCATGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAGTCCTCCCACCTCAGCCTGCCAGGTAGCCGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTCTTTTC... | ATGTCTCCCAACAGAACAAGAAAGATGGATCCCAGGGCAGCTCAGATGTCTCAGGAGCAGAAATTCCTGGACCATCTCCCCAGGGTGCTGCCATCAATAAATACATCAGCTCAAACACTTGTCCACAAACACCTGTCCACCTTTTTTTTTTTTTTTTTTTTGAGGCACGATCTTGCTCTGTCACCCAGGCTGGAGTATAGTGGCATGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAGTCCTCCCACCTCAGCCTGCCAGGTAGCCGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTCTTTTC... |
Task1_train_28735 | Consider this mutation in HMOX1 (heme oxygenase 1) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; Heme oxygenase 1 deficiency | GGCAGAGTTGGGTAAGAACCAGGTCCGTCACACTCAAAAACCCAGGCTCTTTTGTACCAGACTGCCTGGCTTTCTGTCCCCTCAAGGAATAGAGCTGCTTTGAATGTTTGTGGCTCAGAAATAACTCAGAAACTCCAACCTAAATGTCTTAACTTTGTTCTCCTTCAAATTTAAACGGGCGTATTAATGTGTAACGGGAGTTAGTGCCCCAAGCCAAGGTACACTCAAGACCTGTTGCCTCAGCCCAGCATGCAGAGGTGGTGGGGTTCAGAATAGGCCTCCAGGAAGGAGAATTGTGCCCTGTAGTTGGTTACGCAGAG... | GGCAGAGTTGGGTAAGAACCAGGTCCGTCACACTCAAAAACCCAGGCTCTTTTGTACCAGACTGCCTGGCTTTCTGTCCCCTCAAGGAATAGAGCTGCTTTGAATGTTTGTGGCTCAGAAATAACTCAGAAACTCCAACCTAAATGTCTTAACTTTGTTCTCCTTCAAATTTAAACGGGCGTATTAATGTGTAACGGGAGTTAGTGCCCCAAGCCAAGGTACACTCAAGACCTGTTGCCTCAGCCCAGCATGCAGAGGTGGTGGGGTTCAGAATAGGCCTCCAGGAAGGAGAATTGTGCCCTGTAGTTGGTTACGCAGAG... |
Task1_train_28736 | Consider this mutation in MCM5 (minichromosome maintenance complex component 5) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; Meier-Gorlin syndrome 8 | CTGGGCATGGTGGTTCATCCCTGTAATACCAGCGCTTTGGGAGGCCGAGGTGGGCGGATTGCTTGAGCTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTTTACCAAAAATACAAAATAACTAGCCAGGCGTGATATGCACCTGTGGTCCCAGCTGCTTGGGAGGCTGAGGTGGGAGGATCACTTAAGCCCAGAACGGGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCATGTTTCAAATAATAATAATAAATAATAATAATAATAATAATAGCTAA... | CTGGGCATGGTGGTTCATCCCTGTAATACCAGCGCTTTGGGAGGCCGAGGTGGGCGGATTGCTTGAGCTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTTTACCAAAAATACAAAATAACTAGCCAGGCGTGATATGCACCTGTGGTCCCAGCTGCTTGGGAGGCTGAGGTGGGAGGATCACTTAAGCCCAGAACGGGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCATGTTTCAAATAATAATAATAAATAATAATAATAATAATAATAGCTAA... |
Task1_train_28737 | Gene MB (myoglobin) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Myopathy, sarcoplasmic body | CCACCCTGTACAGCCCCTCAGTCCCTCAGAGAGACAATCTGTCCACAGGTGAGGTGGAGACTGTCTTATGAACAGCGCAGAGCGAAGGTCCACCGTGAGGGGGAAAAGCAGACATCTGGGCTCTGTCTCAATTTTTTGCAGAGGTTATGCATCAGATTAAGCATGTTTTAGGGAGACCTGGGTTCTAGTGGCCAACTGGTTGTGATATCTTGGCTGCATGGTTTTTTCTATCCAACACTCGGCTTCTTCCTCTCTAGAGAGAGAACTCAGTCATTGGAAGTGTATGGTGAGCCAAACACGTGCCAGTGGGGCACAGAAAT... | CCACCCTGTACAGCCCCTCAGTCCCTCAGAGAGACAATCTGTCCACAGGTGAGGTGGAGACTGTCTTATGAACAGCGCAGAGCGAAGGTCCACCGTGAGGGGGAAAAGCAGACATCTGGGCTCTGTCTCAATTTTTTGCAGAGGTTATGCATCAGATTAAGCATGTTTTAGGGAGACCTGGGTTCTAGTGGCCAACTGGTTGTGATATCTTGGCTGCATGGTTTTTTCTATCCAACACTCGGCTTCTTCCTCTCTAGAGAGAGAACTCAGTCATTGGAAGTGTATGGTGAGCCAAACACGTGCCAGTGGGGCACAGAAAT... |
Task1_train_28738 | A mutation found in MYH9 (myosin heavy chain 9) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hearing loss, autosomal recessive | ACTGGGCCAGGTGGCCTCAAGCAACTTCCAATTCAAAAGACAATAGACTTTTAGGACAGCTGGGAATAAACTACCTAGAGTTTACTGTGTGTTCAAAACACTAAGCTAAAGCCTCAAAGGCAAGGAGCCAGAAGGGGCAGGGATTGCTTTGTGCAGTCCTTTCTTGGTGACATTCGTGCCTTGCTTGTGGGCTCTGGTTGAGGAACAAGCTACCTTTTGAGAGAAGTGCCGAGGCAAAGGGGCGGGTGGGCAGGGCGGCTCACCTGAGCTTGTTCTTTAGGGAGCTGACTTCGCGGTTCATGGCATCGGCCGTCTCAGTG... | ACTGGGCCAGGTGGCCTCAAGCAACTTCCAATTCAAAAGACAATAGACTTTTAGGACAGCTGGGAATAAACTACCTAGAGTTTACTGTGTGTTCAAAACACTAAGCTAAAGCCTCAAAGGCAAGGAGCCAGAAGGGGCAGGGATTGCTTTGTGCAGTCCTTTCTTGGTGACATTCGTGCCTTGCTTGTGGGCTCTGGTTGAGGAACAAGCTACCTTTTGAGAGAAGTGCCGAGGCAAAGGGGCGGGTGGGCAGGGCGGCTCACCTGAGCTTGTTCTTTAGGGAGCTGACTTCGCGGTTCATGGCATCGGCCGTCTCAGTG... |
Task1_train_28739 | Given a variant located on Chromosome 22 and affecting MYH9 (myosin heavy chain 9), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Rare genetic deafness | GTTCGTCACCGTGGACGTGAGCCCAAGCTGAGCTTCATTTTCTACTTTCTGTCCCCTCCTGTGGGCCGGAAGCCAGTGCCCATGGTGCCACCCCTAATGCGCACCTGCCACTCAAAACCAGTGCCCAGCCTGCCGGTCCATCCCCACCACAGGCAGGAAACACCTTTCCTTTTGTTATTCTCCTGTTACTTCTTTTAACACTAAAGACCTTTGTCAAATAGCCTTTTTTTCCTTTTGCAGATAAATCCGAAATTGAGATTCCCCAAATCAAAGAGAGTGACTGGCTGTGTGCAGCCCGACCACACCAGTAAAAAAATGCC... | GTTCGTCACCGTGGACGTGAGCCCAAGCTGAGCTTCATTTTCTACTTTCTGTCCCCTCCTGTGGGCCGGAAGCCAGTGCCCATGGTGCCACCCCTAATGCGCACCTGCCACTCAAAACCAGTGCCCAGCCTGCCGGTCCATCCCCACCACAGGCAGGAAACACCTTTCCTTTTGTTATTCTCCTGTTACTTCTTTTAACACTAAAGACCTTTGTCAAATAGCCTTTTTTTCCTTTTGCAGATAAATCCGAAATTGAGATTCCCCAAATCAAAGAGAGTGACTGGCTGTGTGCAGCCCGACCACACCAGTAAAAAAATGCC... |
Task1_train_28740 | A variant was discovered on Chromosome 22, affecting MYH9 (myosin heavy chain 9). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | GTTCGTCACCGTGGACGTGAGCCCAAGCTGAGCTTCATTTTCTACTTTCTGTCCCCTCCTGTGGGCCGGAAGCCAGTGCCCATGGTGCCACCCCTAATGCGCACCTGCCACTCAAAACCAGTGCCCAGCCTGCCGGTCCATCCCCACCACAGGCAGGAAACACCTTTCCTTTTGTTATTCTCCTGTTACTTCTTTTAACACTAAAGACCTTTGTCAAATAGCCTTTTTTTCCTTTTGCAGATAAATCCGAAATTGAGATTCCCCAAATCAAAGAGAGTGACTGGCTGTGTGCAGCCCGACCACACCAGTAAAAAAATGCC... | GTTCGTCACCGTGGACGTGAGCCCAAGCTGAGCTTCATTTTCTACTTTCTGTCCCCTCCTGTGGGCCGGAAGCCAGTGCCCATGGTGCCACCCCTAATGCGCACCTGCCACTCAAAACCAGTGCCCAGCCTGCCGGTCCATCCCCACCACAGGCAGGAAACACCTTTCCTTTTGTTATTCTCCTGTTACTTCTTTTAACACTAAAGACCTTTGTCAAATAGCCTTTTTTTCCTTTTGCAGATAAATCCGAAATTGAGATTCCCCAAATCAAAGAGAGTGACTGGCTGTGTGCAGCCCGACCACACCAGTAAAAAAATGCC... |
Task1_train_28741 | This gene mutation involves MYH9 (myosin heavy chain 9) on Chromosome 22. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 17 | GTTCGTCACCGTGGACGTGAGCCCAAGCTGAGCTTCATTTTCTACTTTCTGTCCCCTCCTGTGGGCCGGAAGCCAGTGCCCATGGTGCCACCCCTAATGCGCACCTGCCACTCAAAACCAGTGCCCAGCCTGCCGGTCCATCCCCACCACAGGCAGGAAACACCTTTCCTTTTGTTATTCTCCTGTTACTTCTTTTAACACTAAAGACCTTTGTCAAATAGCCTTTTTTTCCTTTTGCAGATAAATCCGAAATTGAGATTCCCCAAATCAAAGAGAGTGACTGGCTGTGTGCAGCCCGACCACACCAGTAAAAAAATGCC... | GTTCGTCACCGTGGACGTGAGCCCAAGCTGAGCTTCATTTTCTACTTTCTGTCCCCTCCTGTGGGCCGGAAGCCAGTGCCCATGGTGCCACCCCTAATGCGCACCTGCCACTCAAAACCAGTGCCCAGCCTGCCGGTCCATCCCCACCACAGGCAGGAAACACCTTTCCTTTTGTTATTCTCCTGTTACTTCTTTTAACACTAAAGACCTTTGTCAAATAGCCTTTTTTTCCTTTTGCAGATAAATCCGAAATTGAGATTCCCCAAATCAAAGAGAGTGACTGGCTGTGTGCAGCCCGACCACACCAGTAAAAAAATGCC... |
Task1_train_28742 | Here is a variant affecting MYH9 (myosin heavy chain 9) on Chromosome 22. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; MYH9-related disorder | CACAGTTGGCTGCCCGATGTCTTCTACTGTTCTATCCTGCCCCCGAGTCCACATCCCCCTCAGCTGCTCTCAGATCTTTTGGAATAAGGAAGTGATATGAATGCATAAATAAATCGTTTAAAAGACAGTCAAACCGCAGGAGTTTGAGACCAGCCTGGGCGATATGGTGAGATCCCTGTCACTATGAAAAACATCTAAAAATTAGCTGGGTGTGGTGGTGGTGCACGCCTGTGGTCCCAGCCACTCAGGAAGCTGATGTGGGAGGATCACTTGAGCTGTGGTTGCACCACGGCACCCCAGCCTGGGCAACAGACAGAGAC... | CACAGTTGGCTGCCCGATGTCTTCTACTGTTCTATCCTGCCCCCGAGTCCACATCCCCCTCAGCTGCTCTCAGATCTTTTGGAATAAGGAAGTGATATGAATGCATAAATAAATCGTTTAAAAGACAGTCAAACCGCAGGAGTTTGAGACCAGCCTGGGCGATATGGTGAGATCCCTGTCACTATGAAAAACATCTAAAAATTAGCTGGGTGTGGTGGTGGTGCACGCCTGTGGTCCCAGCCACTCAGGAAGCTGATGTGGGAGGATCACTTGAGCTGTGGTTGCACCACGGCACCCCAGCCTGGGCAACAGACAGAGAC... |
Task1_train_28743 | A mutation found in MYH9 (myosin heavy chain 9) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | CACAGTTGGCTGCCCGATGTCTTCTACTGTTCTATCCTGCCCCCGAGTCCACATCCCCCTCAGCTGCTCTCAGATCTTTTGGAATAAGGAAGTGATATGAATGCATAAATAAATCGTTTAAAAGACAGTCAAACCGCAGGAGTTTGAGACCAGCCTGGGCGATATGGTGAGATCCCTGTCACTATGAAAAACATCTAAAAATTAGCTGGGTGTGGTGGTGGTGCACGCCTGTGGTCCCAGCCACTCAGGAAGCTGATGTGGGAGGATCACTTGAGCTGTGGTTGCACCACGGCACCCCAGCCTGGGCAACAGACAGAGAC... | CACAGTTGGCTGCCCGATGTCTTCTACTGTTCTATCCTGCCCCCGAGTCCACATCCCCCTCAGCTGCTCTCAGATCTTTTGGAATAAGGAAGTGATATGAATGCATAAATAAATCGTTTAAAAGACAGTCAAACCGCAGGAGTTTGAGACCAGCCTGGGCGATATGGTGAGATCCCTGTCACTATGAAAAACATCTAAAAATTAGCTGGGTGTGGTGGTGGTGCACGCCTGTGGTCCCAGCCACTCAGGAAGCTGATGTGGGAGGATCACTTGAGCTGTGGTTGCACCACGGCACCCCAGCCTGGGCAACAGACAGAGAC... |
Task1_train_28744 | A mutation found in MYH9 (myosin heavy chain 9) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Inborn genetic diseases | GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAG... | GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAG... |
Task1_train_28745 | A variant on Chromosome 22 in gene MYH9 (myosin heavy chain 9) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAG... | GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAG... |
Task1_train_28746 | This variant affects the gene MYH9 (myosin heavy chain 9) found on Chromosome 22. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAG... | GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAG... |
Task1_train_28747 | This variant affects the gene MYH9 (myosin heavy chain 9) found on Chromosome 22. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 17 | GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAG... | GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAG... |
Task1_train_28748 | This mutation occurs in MYH9 (myosin heavy chain 9) on Chromosome 22. Does this change lead to a known medical condition, or is it benign? | Pathogenic; MYH9-related disorder | GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAG... | GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAG... |
Task1_train_28749 | Here is a variant affecting MYH9 (myosin heavy chain 9) on Chromosome 22. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 17 | GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAG... | GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAG... |
Task1_train_28750 | The following genetic variant occurs in MYH9 (myosin heavy chain 9) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | GCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTC... | GCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTC... |
Task1_train_28751 | A variant has been detected on Chromosome 22 in MYH9 (myosin heavy chain 9). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 17 | CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTC... | CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTC... |
Task1_train_28752 | The gene MYH9 (myosin heavy chain 9) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; MYH9-related disorder | CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTC... | CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTC... |
Task1_train_28753 | With a mutation on Chromosome 22 in gene MYH9 (myosin heavy chain 9), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTC... | CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTC... |
Task1_train_28754 | The gene MYH9 (myosin heavy chain 9) on Chromosome 22 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 17 | CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTC... | CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTC... |
Task1_train_28755 | Given this context: Chromosome 22, gene MYH9 (myosin heavy chain 9) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTC... | CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTC... |
Task1_train_28756 | The gene MYH9 (myosin heavy chain 9) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTC... | CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTC... |
Task1_train_28757 | A sequence alteration has been identified in MYH9 (myosin heavy chain 9) on Chromosome 22. Is it disease-inducing or harmless? | Pathogenic; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | GTAACCTCTTCATGGCTTTTTTCCACTAGGTCAAAAACATTTTGAGGACTGTTTTATTCAGCCCAAAGTTCAAGGTGGCTAGGGCAACATAAAGAAATAAAGAGCTATTTTAGGAATAATAACAAGCAGATATTTCTTTCCCACTGGGGACAAAACCAGAAGGAAATATCTTTGAGTTGAACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAA... | GTAACCTCTTCATGGCTTTTTTCCACTAGGTCAAAAACATTTTGAGGACTGTTTTATTCAGCCCAAAGTTCAAGGTGGCTAGGGCAACATAAAGAAATAAAGAGCTATTTTAGGAATAATAACAAGCAGATATTTCTTTCCCACTGGGGACAAAACCAGAAGGAAATATCTTTGAGTTGAACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAA... |
Task1_train_28758 | An alteration has been detected in MYH9 (myosin heavy chain 9) on Chromosome 22. Is it pathogenic, and if so, what disease is involved? | Pathogenic; MYH9-related disorder | GTAACCTCTTCATGGCTTTTTTCCACTAGGTCAAAAACATTTTGAGGACTGTTTTATTCAGCCCAAAGTTCAAGGTGGCTAGGGCAACATAAAGAAATAAAGAGCTATTTTAGGAATAATAACAAGCAGATATTTCTTTCCCACTGGGGACAAAACCAGAAGGAAATATCTTTGAGTTGAACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAA... | GTAACCTCTTCATGGCTTTTTTCCACTAGGTCAAAAACATTTTGAGGACTGTTTTATTCAGCCCAAAGTTCAAGGTGGCTAGGGCAACATAAAGAAATAAAGAGCTATTTTAGGAATAATAACAAGCAGATATTTCTTTCCCACTGGGGACAAAACCAGAAGGAAATATCTTTGAGTTGAACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAA... |
Task1_train_28759 | Gene MYH9 (myosin heavy chain 9) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not specified | AACCTCTTCATGGCTTTTTTCCACTAGGTCAAAAACATTTTGAGGACTGTTTTATTCAGCCCAAAGTTCAAGGTGGCTAGGGCAACATAAAGAAATAAAGAGCTATTTTAGGAATAATAACAAGCAGATATTTCTTTCCCACTGGGGACAAAACCAGAAGGAAATATCTTTGAGTTGAACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAG... | AACCTCTTCATGGCTTTTTTCCACTAGGTCAAAAACATTTTGAGGACTGTTTTATTCAGCCCAAAGTTCAAGGTGGCTAGGGCAACATAAAGAAATAAAGAGCTATTTTAGGAATAATAACAAGCAGATATTTCTTTCCCACTGGGGACAAAACCAGAAGGAAATATCTTTGAGTTGAACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAG... |
Task1_train_28760 | A mutation found in MYH9 (myosin heavy chain 9) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | AACCTCTTCATGGCTTTTTTCCACTAGGTCAAAAACATTTTGAGGACTGTTTTATTCAGCCCAAAGTTCAAGGTGGCTAGGGCAACATAAAGAAATAAAGAGCTATTTTAGGAATAATAACAAGCAGATATTTCTTTCCCACTGGGGACAAAACCAGAAGGAAATATCTTTGAGTTGAACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAG... | AACCTCTTCATGGCTTTTTTCCACTAGGTCAAAAACATTTTGAGGACTGTTTTATTCAGCCCAAAGTTCAAGGTGGCTAGGGCAACATAAAGAAATAAAGAGCTATTTTAGGAATAATAACAAGCAGATATTTCTTTCCCACTGGGGACAAAACCAGAAGGAAATATCTTTGAGTTGAACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAG... |
Task1_train_28761 | This variant lies on Chromosome 22 and affects the gene MYH9 (myosin heavy chain 9). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; MYH9-related disorder | ACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAGAAAATGACGCCCCTGATCTGCTGCATGTGCTGGCCCTTTGCACATGCTGCTCTCTGGACTCTCAATACACTTCCCCTTGGTCAAGCCTGGCAAGGGACCAGCACTAAAGTGCTGGACAGAGTCCCAGAGCAAGTCTTACTCTTGGTGGCTCACCTCTGCTCAAAGCACACTCCCTAGG... | ACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAGAAAATGACGCCCCTGATCTGCTGCATGTGCTGGCCCTTTGCACATGCTGCTCTCTGGACTCTCAATACACTTCCCCTTGGTCAAGCCTGGCAAGGGACCAGCACTAAAGTGCTGGACAGAGTCCCAGAGCAAGTCTTACTCTTGGTGGCTCACCTCTGCTCAAAGCACACTCCCTAGG... |
Task1_train_28762 | Here is a genetic alteration in MYH9 (myosin heavy chain 9) on Chromosome 22. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | AGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAGAAAATGACGCCCCTGATCTGCTGCATGTGCTGGCCCTTTGCACATGCTGCTCTCTGGACTCTCAATACACTTCCCCTTGGTCAAGCCTGGCAAGGGACCAGCACTAAAGTGCTGGACAGAGTCCCAGAGCAAGTCTTACTCTTGGTGGCTCACCTCTGCTCAAAGCACACTCCCTAGGGA... | AGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAGAAAATGACGCCCCTGATCTGCTGCATGTGCTGGCCCTTTGCACATGCTGCTCTCTGGACTCTCAATACACTTCCCCTTGGTCAAGCCTGGCAAGGGACCAGCACTAAAGTGCTGGACAGAGTCCCAGAGCAAGTCTTACTCTTGGTGGCTCACCTCTGCTCAAAGCACACTCCCTAGGGA... |
Task1_train_28763 | This is a variant in CACNG2 (calcium voltage-gated channel auxiliary subunit gamma 2), located on Chromosome 22. Is this mutation a likely cause of disease or not? | Pathogenic; Intellectual disability, autosomal dominant 10 | CCCTCCTCCCGCGGTCTTCTGGCGAGGCCCGCGGTCTTTATACGGGGGTGGTCCGGCGGTTGGCTGTGTTGGAGTGGAGAGAGTCCTTGTTCTCCTTCTGGATACAGTTGTGAACCTGGAGGAAGCTGTTATCCCTGTCGGAGTTGTAGGTGGCGGTGGGCGTGGTGGCGGCCTTCAGGGGGTCCCTGCTGAGCGTGTACATGGAGATCTCCGTGGACGGCAGGGTGTTGAAGCCCTTGATGCCCACGGGGGAGGCGTCCCTGGAGTGTGAGGGCTCCGTGGAGCGCGAGCTGGAGCGGCTGCGGCGCTGGTAGCGGTAG... | CCCTCCTCCCGCGGTCTTCTGGCGAGGCCCGCGGTCTTTATACGGGGGTGGTCCGGCGGTTGGCTGTGTTGGAGTGGAGAGAGTCCTTGTTCTCCTTCTGGATACAGTTGTGAACCTGGAGGAAGCTGTTATCCCTGTCGGAGTTGTAGGTGGCGGTGGGCGTGGTGGCGGCCTTCAGGGGGTCCCTGCTGAGCGTGTACATGGAGATCTCCGTGGACGGCAGGGTGTTGAAGCCCTTGATGCCCACGGGGGAGGCGTCCCTGGAGTGTGAGGGCTCCGTGGAGCGCGAGCTGGAGCGGCTGCGGCGCTGGTAGCGGTAG... |
Task1_train_28764 | The gene CACNG2-DT, IFT27 (CACNG2 divergent transcript| intraflagellar transport 27), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Bardet-Biedl syndrome 19 | AATTCTGAGGGCCACAGAATCAGGTCTAAAGGCCACAAGGTGAGGTCCAAGTTACGACCATGACTGTGCCAGGCCTGGTGATCTCCCCAGCTAGCAACCCTGGCGAGGGGCAGGGCAACCAACACTCGGGCCCCTGCTGGCTCTGAGATGGATGTTCAGGGCCACACCTGTTCCTAGAGGGCAGATCATCACTTCATGCCCTTCCTAGTGGAGTCTCATGTGAGGGGTCTGATTGGTGCAGCCTGGGTCACATGGCTGCATCTTGGCCTCAAGGAGGATGGGACTTTAAAACTCCCAAACACAGGAAGCAGGTTCCTCAG... | AATTCTGAGGGCCACAGAATCAGGTCTAAAGGCCACAAGGTGAGGTCCAAGTTACGACCATGACTGTGCCAGGCCTGGTGATCTCCCCAGCTAGCAACCCTGGCGAGGGGCAGGGCAACCAACACTCGGGCCCCTGCTGGCTCTGAGATGGATGTTCAGGGCCACACCTGTTCCTAGAGGGCAGATCATCACTTCATGCCCTTCCTAGTGGAGTCTCATGTGAGGGGTCTGATTGGTGCAGCCTGGGTCACATGGCTGCATCTTGGCCTCAAGGAGGATGGGACTTTAAAACTCCCAAACACAGGAAGCAGGTTCCTCAG... |
Task1_train_28765 | This is a variant in IFT27 (intraflagellar transport 27), located on Chromosome 22. Is this mutation a likely cause of disease or not? | Pathogenic; Bardet-Biedl syndrome | AGCCTCGTTATAGGCTGAGGCCTCTACAGCACTTCCCAGAGGGGGAGGAGGCAGTCTGTACTGTCTTGGGAGGTAGGGGACACCATCTGAAAGGACAGTGTTGCTCTAAAGAAGGGAGGCCTCACAGGGGGAGGGCTGCAAGGACCGAGCCGCAGGGCTCTTGGCCCATTGGATCCTGGGCACCCCAGAGCTGGGGCCCGGGCAGTCACACGCATCAGCCACTCCTTCTTGCCAAGTATCCATGAGTCCTGGGCTGGGAGGAATGCCCCTTAAAGAGTAATGCCATGGGAGCTTCCCAACAGCACAGTGCAGGGAAACTG... | AGCCTCGTTATAGGCTGAGGCCTCTACAGCACTTCCCAGAGGGGGAGGAGGCAGTCTGTACTGTCTTGGGAGGTAGGGGACACCATCTGAAAGGACAGTGTTGCTCTAAAGAAGGGAGGCCTCACAGGGGGAGGGCTGCAAGGACCGAGCCGCAGGGCTCTTGGCCCATTGGATCCTGGGCACCCCAGAGCTGGGGCCCGGGCAGTCACACGCATCAGCCACTCCTTCTTGCCAAGTATCCATGAGTCCTGGGCTGGGAGGAATGCCCCTTAAAGAGTAATGCCATGGGAGCTTCCCAACAGCACAGTGCAGGGAAACTG... |
Task1_train_28766 | A genetic alteration is present in NCF4, NCF4-AS1 (neutrophil cytosolic factor 4| NCF4 antisense RNA 1) on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | AGAGACAGGAATCCCCCAGTCTGGTCCCTAAACACACTGACTCACCTCCCTGCCCACCCTCAGCTTCCTCCCACGAGACCAGCCCTCTGACTTCATGGTCTTGGCTTCCAGCGTCCCTGTGGCTCTCCTTCTTCTCCTGTCCCGCCAGGAAGCTGGGTGGCCTCAAGCCTCTGCTTGCAAACAGTCTCCCCGCCCCCTGGCCTCCTGGTCCTTCCTCCCCAGCTGGATCCTAACGCGCACCTTGGACAGCGCCAAGCCCTTAGCTGCTCAGCACCTGCCCCGCAGGAGGAAACCCCATCACGAATGGGTTACACGGGGGT... | AGAGACAGGAATCCCCCAGTCTGGTCCCTAAACACACTGACTCACCTCCCTGCCCACCCTCAGCTTCCTCCCACGAGACCAGCCCTCTGACTTCATGGTCTTGGCTTCCAGCGTCCCTGTGGCTCTCCTTCTTCTCCTGTCCCGCCAGGAAGCTGGGTGGCCTCAAGCCTCTGCTTGCAAACAGTCTCCCCGCCCCCTGGCCTCCTGGTCCTTCCTCCCCAGCTGGATCCTAACGCGCACCTTGGACAGCGCCAAGCCCTTAGCTGCTCAGCACCTGCCCCGCAGGAGGAAACCCCATCACGAATGGGTTACACGGGGGT... |
Task1_train_28767 | A genomic change on Chromosome 22 affects NCF4, NCF4-AS1 (neutrophil cytosolic factor 4| NCF4 antisense RNA 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Chronic granulomatous disease | AGAGACAGGAATCCCCCAGTCTGGTCCCTAAACACACTGACTCACCTCCCTGCCCACCCTCAGCTTCCTCCCACGAGACCAGCCCTCTGACTTCATGGTCTTGGCTTCCAGCGTCCCTGTGGCTCTCCTTCTTCTCCTGTCCCGCCAGGAAGCTGGGTGGCCTCAAGCCTCTGCTTGCAAACAGTCTCCCCGCCCCCTGGCCTCCTGGTCCTTCCTCCCCAGCTGGATCCTAACGCGCACCTTGGACAGCGCCAAGCCCTTAGCTGCTCAGCACCTGCCCCGCAGGAGGAAACCCCATCACGAATGGGTTACACGGGGGT... | AGAGACAGGAATCCCCCAGTCTGGTCCCTAAACACACTGACTCACCTCCCTGCCCACCCTCAGCTTCCTCCCACGAGACCAGCCCTCTGACTTCATGGTCTTGGCTTCCAGCGTCCCTGTGGCTCTCCTTCTTCTCCTGTCCCGCCAGGAAGCTGGGTGGCCTCAAGCCTCTGCTTGCAAACAGTCTCCCCGCCCCCTGGCCTCCTGGTCCTTCCTCCCCAGCTGGATCCTAACGCGCACCTTGGACAGCGCCAAGCCCTTAGCTGCTCAGCACCTGCCCCGCAGGAGGAAACCCCATCACGAATGGGTTACACGGGGGT... |
Task1_train_28768 | This mutation is located in gene KCTD17 (potassium channel tetramerization domain containing 17) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Myoclonic dystonia 26 | TGATCCTACCCTGGGGACTCTACCCCCATGATCTCATTACCTCCCCTCCTAATCCCATCACAGTTTTCAGCAGGTGGATTTTTGGGGAACACACACATTCTGCTCATAATGAGCTCTGTCCCCAGGGAGCCCAGAGGCCAGTCAAGGAAAGGGCCCAAAGGTCCCCTGCCTTCTGGGAGCCTAGGGGAGTCGAAACAGCTGCAAGCTCATCGCTTCACTGGTGGGCTGACTTCTTCATCTCCCAGATTAACTTAACTGTAAGATGGGGACAGTAATGCCTGCTCTCCTCATATCCCTGGACTTGTGATGAGCTCGTGCAG... | TGATCCTACCCTGGGGACTCTACCCCCATGATCTCATTACCTCCCCTCCTAATCCCATCACAGTTTTCAGCAGGTGGATTTTTGGGGAACACACACATTCTGCTCATAATGAGCTCTGTCCCCAGGGAGCCCAGAGGCCAGTCAAGGAAAGGGCCCAAAGGTCCCCTGCCTTCTGGGAGCCTAGGGGAGTCGAAACAGCTGCAAGCTCATCGCTTCACTGGTGGGCTGACTTCTTCATCTCCCAGATTAACTTAACTGTAAGATGGGGACAGTAATGCCTGCTCTCCTCATATCCCTGGACTTGTGATGAGCTCGTGCAG... |
Task1_train_28769 | The gene TMPRSS6 (transmembrane serine protease 6), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Iron-refractory iron deficiency anemia | GGGCCAAACACCTACCTCCTCCAGGAAGCTTTTCATGTCTGACCTCCTCCCTGCCCTCCAATCTTCCTACAAGGCAGGAGAGTCACCCATCATATCCTCCTACTAACAGATGAGCCTTGGAAGGCAGGGCCTGCATCTCTGCTGTTTTATTCTCACTTCCTTACTGCACCTTGCCTATCGCTGGGTAGCCTGCAAGTGTTGGTCAGTTGGTCAGTTGGATGGGTAGATGGATGGATGGATAAATAGACCCAGACAGAAGACTGAGCAGACAAGCCAATGGGTGGAGTGGTGGTCCATTAGGGAGACTGACAGACAGCTAG... | GGGCCAAACACCTACCTCCTCCAGGAAGCTTTTCATGTCTGACCTCCTCCCTGCCCTCCAATCTTCCTACAAGGCAGGAGAGTCACCCATCATATCCTCCTACTAACAGATGAGCCTTGGAAGGCAGGGCCTGCATCTCTGCTGTTTTATTCTCACTTCCTTACTGCACCTTGCCTATCGCTGGGTAGCCTGCAAGTGTTGGTCAGTTGGTCAGTTGGATGGGTAGATGGATGGATGGATAAATAGACCCAGACAGAAGACTGAGCAGACAAGCCAATGGGTGGAGTGGTGGTCCATTAGGGAGACTGACAGACAGCTAG... |
Task1_train_28770 | A variant was discovered on Chromosome 22, affecting TMPRSS6 (transmembrane serine protease 6). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Iron-refractory iron deficiency anemia | TGCCCCTCCAACATCGCCTCGCCTGATGGTGTCAGGCCCTTGATCAGCCATCACAGTCATTGTCTGGTGCAAACCTATCACACCCATGTTTCCATTCTACAGATGAGCCCAGTGAAGGGAGGGTGACATGCAGGAAGCCAAGTTCCCTCTCTATGCCTTAGTTTCCCCATTTGAAACATGAAGGCATTGCATCAGAAGCCTACAGAGGCCCCTCCCATTCTTTGAATCTCAGCTTCTTGCAGGAGCTGGTCAGGGGCAAGGACAACTCACCCAAAGGAATAGACGGAGCTGGAGTTGTAGTAAGTTCCCAGGCGGGTGCT... | TGCCCCTCCAACATCGCCTCGCCTGATGGTGTCAGGCCCTTGATCAGCCATCACAGTCATTGTCTGGTGCAAACCTATCACACCCATGTTTCCATTCTACAGATGAGCCCAGTGAAGGGAGGGTGACATGCAGGAAGCCAAGTTCCCTCTCTATGCCTTAGTTTCCCCATTTGAAACATGAAGGCATTGCATCAGAAGCCTACAGAGGCCCCTCCCATTCTTTGAATCTCAGCTTCTTGCAGGAGCTGGTCAGGGGCAAGGACAACTCACCCAAAGGAATAGACGGAGCTGGAGTTGTAGTAAGTTCCCAGGCGGGTGCT... |
Task1_train_28771 | Gene IL2RB (interleukin 2 receptor subunit beta), found on Chromosome 22, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Immunodeficiency 63 with lymphoproliferation and autoimmunity | ACTTGGGCACAGGCACTGTCACTATTTCCATTCTACAGCTGAGGAGACTGAAGCACAGAGAGCCTTAGGGACTTGCCTGAGGTCACACAGCTAAGAAATGGTGGAGCCAGGATCAGAAACCAGGCCACCTACAGAGCTCCCTGCAAGGGGAACAGCATCCGGTTCCAGAGGCTGTGATTTTATCAGCTACACTGTGTGACTCCATCTTCACACTCTCCTGCCCCTCAAGAAGACATATAACCTGATGGAAGATGTGGTCCGGGTGTCCTTGGAGCCCGCTGCCGCCCAGGAGGCTTTGACAGACAATAATTTGATGTACA... | ACTTGGGCACAGGCACTGTCACTATTTCCATTCTACAGCTGAGGAGACTGAAGCACAGAGAGCCTTAGGGACTTGCCTGAGGTCACACAGCTAAGAAATGGTGGAGCCAGGATCAGAAACCAGGCCACCTACAGAGCTCCCTGCAAGGGGAACAGCATCCGGTTCCAGAGGCTGTGATTTTATCAGCTACACTGTGTGACTCCATCTTCACACTCTCCTGCCCCTCAAGAAGACATATAACCTGATGGAAGATGTGGTCCGGGTGTCCTTGGAGCCCGCTGCCGCCCAGGAGGCTTTGACAGACAATAATTTGATGTACA... |
Task1_train_28772 | A sequence alteration has been identified in IL2RB (interleukin 2 receptor subunit beta) on Chromosome 22. Is it disease-inducing or harmless? | Pathogenic; Immunodeficiency 63 with lymphoproliferation and autoimmunity | GCCCAAGCCAGGACCCAGGCATCTCTACTGCCCCCACAAGCTCAGGGGTGTCTGCTCCCACTGTCTGGCCTCCTCCTGCTCCAGTGCCCACTCCAATCTCAGAGCGGGACCAAGCCCAGGCACTACCACAGCCTGGCACGCTCGAGGCAGCACTGACTCACTGGCCCCAGCTGCCTCGGCCCCCTCTGGACTTTAGGCACCAATGAGCACAGGGGGATGGGAAGCCACGGGGGTGCAGGGGACAGCTTGGCACTGGCCTGCAGGTGCCCCTTGGCCCGAGCAGCCTGGGCAGAAGGAGGCGGGTCCCTGGTGAGGTCCCA... | GCCCAAGCCAGGACCCAGGCATCTCTACTGCCCCCACAAGCTCAGGGGTGTCTGCTCCCACTGTCTGGCCTCCTCCTGCTCCAGTGCCCACTCCAATCTCAGAGCGGGACCAAGCCCAGGCACTACCACAGCCTGGCACGCTCGAGGCAGCACTGACTCACTGGCCCCAGCTGCCTCGGCCCCCTCTGGACTTTAGGCACCAATGAGCACAGGGGGATGGGAAGCCACGGGGGTGCAGGGGACAGCTTGGCACTGGCCTGCAGGTGCCCCTTGGCCCGAGCAGCCTGGGCAGAAGGAGGCGGGTCCCTGGTGAGGTCCCA... |
Task1_train_28773 | Gene RAC2 (Rac family small GTPase 2) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | TCCAGCACCCTCCACATGATCCCAAAGCATGTGCTTTACAAGGGAGAGGTCAGTGACAGCCAGGCCACAGGCTGGAGAGCTGCACCCTGAATAGAAGGAGTCCAGGGGCAGGGGTTGGAGGGGTGCTGGTTGGTCAGAAAGAGAAGGCAGGGATGAATCCTTGATATTTAAAAGGAAAGACTTGCAGGCTGGGGAGCTGTGGCCCTAGGACAGGGGAAGGGAGCCAGGGTGTGAGCCATAGTCTGAGGCCCCCGGGGAAGATGGCTGTGTCACCACGCTAGTCACAGAAGGAGGGAGGTGGTGGCTGCGGTTTCTCTTCC... | TCCAGCACCCTCCACATGATCCCAAAGCATGTGCTTTACAAGGGAGAGGTCAGTGACAGCCAGGCCACAGGCTGGAGAGCTGCACCCTGAATAGAAGGAGTCCAGGGGCAGGGGTTGGAGGGGTGCTGGTTGGTCAGAAAGAGAAGGCAGGGATGAATCCTTGATATTTAAAAGGAAAGACTTGCAGGCTGGGGAGCTGTGGCCCTAGGACAGGGGAAGGGAGCCAGGGTGTGAGCCATAGTCTGAGGCCCCCGGGGAAGATGGCTGTGTCACCACGCTAGTCACAGAAGGAGGGAGGTGGTGGCTGCGGTTTCTCTTCC... |
Task1_train_28774 | This gene mutation involves RAC2 (Rac family small GTPase 2) on Chromosome 22. Is it associated with any clinical condition, or is it benign? | Pathogenic; Neutrophil immunodeficiency syndrome | CCACTTGTCCTCCAAGCAACCACAGCACCCCCACTCAATCTCTGCTTCTGTCTGCTCAAAGCACACCTCCTTATTTTCAGTATCTATTAATAGATACTACTCATACTACTAGGACGACTACTACTAACACAGAGTGCTTCTCACACACAGGTGCTGCCCTGGCAGCTCCACCTGGAATAAGTTACTGAATTCCCCCAACCACCCCAGGAGGCAGGAGCTATCACTATCCCATGCTTTTCTGATAAGGAAACACAGGCAGAGAGAGGCTACGTGACTCGCCCAAGGTCACACAGCAAGTGCACAGCACAGCTGAGTTCAAA... | CCACTTGTCCTCCAAGCAACCACAGCACCCCCACTCAATCTCTGCTTCTGTCTGCTCAAAGCACACCTCCTTATTTTCAGTATCTATTAATAGATACTACTCATACTACTAGGACGACTACTACTAACACAGAGTGCTTCTCACACACAGGTGCTGCCCTGGCAGCTCCACCTGGAATAAGTTACTGAATTCCCCCAACCACCCCAGGAGGCAGGAGCTATCACTATCCCATGCTTTTCTGATAAGGAAACACAGGCAGAGAGAGGCTACGTGACTCGCCCAAGGTCACACAGCAAGTGCACAGCACAGCTGAGTTCAAA... |
Task1_train_28775 | With a mutation on Chromosome 22 in gene RAC2 (Rac family small GTPase 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | CACCTGGCCATAACCTGGCCTCAGCAGCCTCAGCCATCCATCTCAACGTACAAGGGAGGTGCCTGGGGAAGGAGCTTGGGACTTCCAAGCCTCTACCTCTTATAGAAAAGGAGATTGAGGCTCAGAGAGGGGAAGTGATTGGTCCAAGGTCCTTCAGCAAGTGGGTCCTTCAACTCAGCCAAGATGCACAAAGGCGGGACAAGGTCTCAAGCCAGCATCCAGAGACCCAGGGACAGAGGCAGTGACAACACACTGCTGGTGACCATGGCCTTGAGCAGGAGCTGCCTCACCTAATTCTCCCTCCCTGCTCAGGTTTGCAG... | CACCTGGCCATAACCTGGCCTCAGCAGCCTCAGCCATCCATCTCAACGTACAAGGGAGGTGCCTGGGGAAGGAGCTTGGGACTTCCAAGCCTCTACCTCTTATAGAAAAGGAGATTGAGGCTCAGAGAGGGGAAGTGATTGGTCCAAGGTCCTTCAGCAAGTGGGTCCTTCAACTCAGCCAAGATGCACAAAGGCGGGACAAGGTCTCAAGCCAGCATCCAGAGACCCAGGGACAGAGGCAGTGACAACACACTGCTGGTGACCATGGCCTTGAGCAGGAGCTGCCTCACCTAATTCTCCCTCCCTGCTCAGGTTTGCAG... |
Task1_train_28776 | Here is a genetic alteration in CARD10 (caspase recruitment domain family member 10) on Chromosome 22. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Immunodeficiency 89 and autoimmunity | ATTGATCTCCTTTTCACTGTCTGTGGCTTCCTCCTGCAATGCCATGACAGGGCCTGGGTCACCCCCACTGCCCAGCACCATCCCAGTCCTCAGCACACCTGGTTTGTGCCCATTCCACAAATGAGAAGTAGGGCCCAGAGCAGAAGAGCGGGCTCTGCAAGATTATAGTGTGCGGGTGGCTCCCCACGCCTCCTGGCACCTATGCCTGGCAAGGAAATGGTTCTGGGTGAGCTTCAGTAAAGTACTTGGCCTCCCTGCGCCTCAGTGTCCTCACCTGTGAAATGGATCCTTCAGAAAGCACTCTCCACATTAGTAATAAT... | ATTGATCTCCTTTTCACTGTCTGTGGCTTCCTCCTGCAATGCCATGACAGGGCCTGGGTCACCCCCACTGCCCAGCACCATCCCAGTCCTCAGCACACCTGGTTTGTGCCCATTCCACAAATGAGAAGTAGGGCCCAGAGCAGAAGAGCGGGCTCTGCAAGATTATAGTGTGCGGGTGGCTCCCCACGCCTCCTGGCACCTATGCCTGGCAAGGAAATGGTTCTGGGTGAGCTTCAGTAAAGTACTTGGCCTCCCTGCGCCTCAGTGTCCTCACCTGTGAAATGGATCCTTCAGAAAGCACTCTCCACATTAGTAATAAT... |
Task1_train_28777 | A sequence alteration has been identified in TRIOBP (TRIO and F-actin binding protein) on Chromosome 22. Is it disease-inducing or harmless? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 28 | AGTGGAACACCCCCAGAGCTTCCTCTCCCTCACGAAGCACCCAACTGGATAACCCCAGAACCTCTTCTACCCAGCAGGACAACCCCCAAACTTCTTTTCCTACTTGTACTCCCCAGCGGGAAAACCCCAGGACACCCTGTGTCCAGCAGGACGATCCCAGAGCCTCCTCTCCCAACAGAACCACTCAACGAGAGAATTCCAGAACATCCTGTGCCCAGCGGGACAATCCCAAAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCT... | AGTGGAACACCCCCAGAGCTTCCTCTCCCTCACGAAGCACCCAACTGGATAACCCCAGAACCTCTTCTACCCAGCAGGACAACCCCCAAACTTCTTTTCCTACTTGTACTCCCCAGCGGGAAAACCCCAGGACACCCTGTGTCCAGCAGGACGATCCCAGAGCCTCCTCTCCCAACAGAACCACTCAACGAGAGAATTCCAGAACATCCTGTGCCCAGCGGGACAATCCCAAAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCT... |
Task1_train_28778 | Gene POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Waardenburg syndrome type 2E, with neurologic involvement | CTTTGGGAGGCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAG... | CTTTGGGAGGCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAG... |
Task1_train_28779 | Here’s a variant in POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; PCWH syndrome | CAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGC... | CAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGC... |
Task1_train_28780 | This variant affects the gene POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) found on Chromosome 22. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Waardenburg syndrome type 4C | CAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGC... | CAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGC... |
Task1_train_28781 | A mutation on Chromosome 22 affecting POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Waardenburg syndrome type 2E | CAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGC... | CAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGC... |
Task1_train_28782 | The gene POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Deafness with anatomical inner ear anomalies | CAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGC... | CAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGC... |
Task1_train_28783 | This genomic variant is located on Chromosome 22, within the POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Waardenburg syndrome type 4C | ACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCT... | ACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCT... |
Task1_train_28784 | This genomic variant is located on Chromosome 22, within the POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | AAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTT... | AAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTT... |
Task1_train_28785 | A variant on Chromosome 22 in gene POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Waardenburg syndrome type 4C | CAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTTTCTTCCTGTACTTAATTCACTC... | CAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTTTCTTCCTGTACTTAATTCACTC... |
Task1_train_28786 | Given this variant in gene POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | CCCTCCAGGGTCCAGGGAGCCACCCTCTGTTGGCATTGCCTTTGATCCTTGCCATGGTTCTGGCCCCATCCTCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTAC... | CCCTCCAGGGTCCAGGGAGCCACCCTCTGTTGGCATTGCCTTTGATCCTTGCCATGGTTCTGGCCCCATCCTCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTAC... |
Task1_train_28787 | Here is a mutation in POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; PCWH syndrome | CCTCCAGGGTCCAGGGAGCCACCCTCTGTTGGCATTGCCTTTGATCCTTGCCATGGTTCTGGCCCCATCCTCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACT... | CCTCCAGGGTCCAGGGAGCCACCCTCTGTTGGCATTGCCTTTGATCCTTGCCATGGTTCTGGCCCCATCCTCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACT... |
Task1_train_28788 | The gene POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Waardenburg syndrome type 2E, without neurologic involvement | CCCTCTGTTGGCATTGCCTTTGATCCTTGCCATGGTTCTGGCCCCATCCTCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCA... | CCCTCTGTTGGCATTGCCTTTGATCCTTGCCATGGTTCTGGCCCCATCCTCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCA... |
Task1_train_28789 | A mutation found in POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; PCWH syndrome | GGCATTGCCTTTGATCCTTGCCATGGTTCTGGCCCCATCCTCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCC... | GGCATTGCCTTTGATCCTTGCCATGGTTCTGGCCCCATCCTCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCC... |
Task1_train_28790 | This mutation is located in gene POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | TCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGC... | TCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGC... |
Task1_train_28791 | Given this variant in gene POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Waardenburg syndrome type 1 | TCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTA... | TCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTA... |
Task1_train_28792 | The following genetic variant occurs in POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Waardenburg syndrome type 2E | GTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGG... | GTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGG... |
Task1_train_28793 | The gene POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) on Chromosome 22 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Waardenburg syndrome type 2E, without neurologic involvement | GGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGC... | GGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGC... |
Task1_train_28794 | A change on Chromosome 22 affects gene PLA2G6 (phospholipase A2 group VI). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Infantile neuroaxonal dystrophy | GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCT... | GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCT... |
Task1_train_28795 | The gene PLA2G6 (phospholipase A2 group VI) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Infantile neuroaxonal dystrophy | GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCT... | GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCT... |
Task1_train_28796 | The variant affects gene PLA2G6 (phospholipase A2 group VI), which is on Chromosome 22. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Neurodegeneration with brain iron accumulation 2B | GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCT... | GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCT... |
Task1_train_28797 | A sequence alteration has been identified in PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Is it disease-inducing or harmless? | Pathogenic; Autosomal recessive Parkinson disease 14 | GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCT... | GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCT... |
Task1_train_28798 | Located on Chromosome 22, this mutation impacts PLA2G6 (phospholipase A2 group VI). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Iron accumulation in brain | GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCT... | GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCT... |
Task1_train_28799 | Consider a variant on Chromosome 22 in gene PLA2G6 (phospholipase A2 group VI). Determine its clinical classification and disease relevance. | Pathogenic; Infantile neuroaxonal dystrophy | AGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATG... | AGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATG... |
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