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_12400 | Here’s a variant in EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Weaver syndrome | AGTGTAATCTTATAAGTTACTTAACCTCTCTAAATCTATCCCCTCAAATAGAAAATGGATCTGACAGGTGGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATAGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGAAGCTTGCAGTAAGCTGAGATGGGGCCACTGTACTCTAG... | AGTGTAATCTTATAAGTTACTTAACCTCTCTAAATCTATCCCCTCAAATAGAAAATGGATCTGACAGGTGGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATAGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGAAGCTTGCAGTAAGCTGAGATGGGGCCACTGTACTCTAG... |
Task1_train_12401 | Located on Chromosome 7, this mutation impacts KCNH2 (potassium voltage-gated channel subfamily H member 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | GGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGG... | GGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGG... |
Task1_train_12402 | A mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | AACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACA... | AACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACA... |
Task1_train_12403 | The gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Long QT syndrome | TGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTC... | TGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTC... |
Task1_train_12404 | A genetic alteration is present in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cardiovascular phenotype | TGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTC... | TGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTC... |
Task1_train_12405 | Here is a genetic alteration in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | GGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCC... | GGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCC... |
Task1_train_12406 | The gene KCNH2 (potassium voltage-gated channel subfamily H member 2), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | ACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCC... | ACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCC... |
Task1_train_12407 | A mutation on Chromosome 7 affecting KCNH2 (potassium voltage-gated channel subfamily H member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | GGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGC... | GGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGC... |
Task1_train_12408 | Given this variant in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | TTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGG... | TTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGG... |
Task1_train_12409 | Assess the clinical impact of this variant on gene KCNH2 (potassium voltage-gated channel subfamily H member 2), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Long QT syndrome 2 | TTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGG... | TTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGG... |
Task1_train_12410 | This sequence change occurs on Chromosome 7, altering KCNH2 (potassium voltage-gated channel subfamily H member 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Long QT syndrome | TTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAG... | TTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAG... |
Task1_train_12411 | A mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | TTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTG... | TTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTG... |
Task1_train_12412 | A sequence alteration has been identified in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Long QT syndrome 2 | TTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTG... | TTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTG... |
Task1_train_12413 | Located on Chromosome 7, this mutation impacts KCNH2 (potassium voltage-gated channel subfamily H member 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | TTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAG... | TTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAG... |
Task1_train_12414 | This sequence change occurs on Chromosome 7, altering KCNH2 (potassium voltage-gated channel subfamily H member 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Long QT syndrome | TGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGG... | TGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGG... |
Task1_train_12415 | This is a variant in KCNH2 (potassium voltage-gated channel subfamily H member 2), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; KCNH2-related disorder | ACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCT... | ACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCT... |
Task1_train_12416 | Gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Long QT syndrome 2 | ACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCT... | ACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCT... |
Task1_train_12417 | An alteration has been detected in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cardiovascular phenotype | ACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCT... | ACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCT... |
Task1_train_12418 | This mutation occurs in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Long QT syndrome | ACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCT... | ACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCT... |
Task1_train_12419 | An alteration has been detected in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Short QT syndrome type 1 | CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATG... | CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATG... |
Task1_train_12420 | The gene KCNH2 (potassium voltage-gated channel subfamily H member 2), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Long QT syndrome 2 | CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATG... | CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATG... |
Task1_train_12421 | A variant found in Chromosome 7 affects KCNH2 (potassium voltage-gated channel subfamily H member 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Long QT syndrome 2 | CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATG... | CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATG... |
Task1_train_12422 | A variant affecting Chromosome 7, within the gene KCNH2 (potassium voltage-gated channel subfamily H member 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Long QT syndrome | CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATG... | CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATG... |
Task1_train_12423 | A mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Long QT syndrome | CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATG... | CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATG... |
Task1_train_12424 | Assess the clinical impact of this variant on gene KCNH2 (potassium voltage-gated channel subfamily H member 2), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | TTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGT... | TTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGT... |
Task1_train_12425 | An alteration has been detected in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Long QT syndrome | GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTC... | GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTC... |
Task1_train_12426 | A mutation on Chromosome 7 affecting KCNH2 (potassium voltage-gated channel subfamily H member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Short QT syndrome type 1 | GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTC... | GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTC... |
Task1_train_12427 | This gene mutation involves KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Long QT syndrome 2 | GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTC... | GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTC... |
Task1_train_12428 | A genomic change on Chromosome 7 affects KCNH2 (potassium voltage-gated channel subfamily H member 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; KCNH2-related disorder | GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTC... | GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTC... |
Task1_train_12429 | The following genetic variant occurs in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cardiovascular phenotype | GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTC... | GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTC... |
Task1_train_12430 | Mutation context: Chromosome 7, Gene KCNH2 (potassium voltage-gated channel subfamily H member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Long QT syndrome | CACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCA... | CACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCA... |
Task1_train_12431 | This alteration occurs within gene KCNH2 (potassium voltage-gated channel subfamily H member 2) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Long QT syndrome | CAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAG... | CAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAG... |
Task1_train_12432 | The gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Long QT syndrome | GAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAG... | GAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAG... |
Task1_train_12433 | A variant was discovered in gene KCNH2 (potassium voltage-gated channel subfamily H member 2), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cardiovascular phenotype | TAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTT... | TAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTT... |
Task1_train_12434 | A mutation on Chromosome 7 affecting KCNH2 (potassium voltage-gated channel subfamily H member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Long QT syndrome 2 | TAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTT... | TAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTT... |
Task1_train_12435 | This mutation is located in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Long QT syndrome | TAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTT... | TAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTT... |
Task1_train_12436 | A variant has been detected on Chromosome 7 in KCNH2 (potassium voltage-gated channel subfamily H member 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | GCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTG... | GCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTG... |
Task1_train_12437 | A mutation found in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Long QT syndrome 2 | TGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCA... | TGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCA... |
Task1_train_12438 | A mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Long QT syndrome | GTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCC... | GTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCC... |
Task1_train_12439 | This sequence change occurs on Chromosome 7, altering KCNH2 (potassium voltage-gated channel subfamily H member 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cardiovascular phenotype | TTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAG... | TTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAG... |
Task1_train_12440 | A mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Long QT syndrome | TTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAG... | TTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAG... |
Task1_train_12441 | A variant on Chromosome 7 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Long QT syndrome 2 | TGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTC... | TGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTC... |
Task1_train_12442 | The gene KCNH2 (potassium voltage-gated channel subfamily H member 2), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cardiovascular phenotype | TGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTC... | TGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTC... |
Task1_train_12443 | This is a variant in KCNH2 (potassium voltage-gated channel subfamily H member 2), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Long QT syndrome | TGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTC... | TGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTC... |
Task1_train_12444 | A genomic change on Chromosome 7 affects KCNH2 (potassium voltage-gated channel subfamily H member 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | TTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGG... | TTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGG... |
Task1_train_12445 | A genetic alteration is present in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Long QT syndrome 2 | TTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGC... | TTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGC... |
Task1_train_12446 | A genomic change on Chromosome 7 affects KCNH2 (potassium voltage-gated channel subfamily H member 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Long QT syndrome | GTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGAT... | GTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGAT... |
Task1_train_12447 | This alteration occurs within gene KCNH2 (potassium voltage-gated channel subfamily H member 2) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Cardiovascular phenotype | GTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGAT... | GTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGAT... |
Task1_train_12448 | Gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Long QT syndrome | GTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGAT... | GTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGAT... |
Task1_train_12449 | Here is a variant affecting KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Long QT syndrome | GTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGAT... | GTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGAT... |
Task1_train_12450 | Located on Chromosome 7, this mutation impacts KCNH2 (potassium voltage-gated channel subfamily H member 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Cardiovascular phenotype | AACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCT... | AACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCT... |
Task1_train_12451 | This alteration occurs within gene KCNH2 (potassium voltage-gated channel subfamily H member 2) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Cardiovascular phenotype | AACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCT... | AACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCT... |
Task1_train_12452 | A variant was discovered in gene KCNH2 (potassium voltage-gated channel subfamily H member 2), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Long QT syndrome | ACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGT... | ACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGT... |
Task1_train_12453 | A mutation on Chromosome 7 affecting KCNH2 (potassium voltage-gated channel subfamily H member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Congenital long QT syndrome | ACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGT... | ACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGT... |
Task1_train_12454 | The following genetic variant occurs in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cardiovascular phenotype | ACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGT... | ACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGT... |
Task1_train_12455 | Gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Long QT syndrome | ATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAG... | ATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAG... |
Task1_train_12456 | This variant affects the gene KCNH2 (potassium voltage-gated channel subfamily H member 2) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Long QT syndrome 2 | TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGG... | TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGG... |
Task1_train_12457 | Assess the clinical impact of this variant on gene KCNH2 (potassium voltage-gated channel subfamily H member 2), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Long QT syndrome | TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGG... | TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGG... |
Task1_train_12458 | Given this context: Chromosome 7, gene KCNH2 (potassium voltage-gated channel subfamily H member 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Long QT syndrome 2 | TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGG... | TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGG... |
Task1_train_12459 | Given a variant located on Chromosome 7 and affecting KCNH2 (potassium voltage-gated channel subfamily H member 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cardiovascular phenotype | TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGG... | TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGG... |
Task1_train_12460 | Gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGG... | TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGG... |
Task1_train_12461 | The gene KCNH2 (potassium voltage-gated channel subfamily H member 2), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cardiovascular phenotype | GACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCA... | GACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCA... |
Task1_train_12462 | Consider this mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Long QT syndrome | GACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCA... | GACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCA... |
Task1_train_12463 | Here is a variant affecting KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Cardiovascular phenotype | GACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCA... | GACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCA... |
Task1_train_12464 | Here is a genetic alteration in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Long QT syndrome 2 | AGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTG... | AGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTG... |
Task1_train_12465 | This mutation is located in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cardiac arrhythmia | AGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGC... | AGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGC... |
Task1_train_12466 | Gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Long QT syndrome | AGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGC... | AGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGC... |
Task1_train_12467 | This mutation occurs in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cardiovascular phenotype | AGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGC... | AGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGC... |
Task1_train_12468 | Consider this mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Long QT syndrome 2 | AGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGC... | AGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGC... |
Task1_train_12469 | Consider this mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Cardiovascular phenotype | GGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGG... | GGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGG... |
Task1_train_12470 | Here is a genetic alteration in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Long QT syndrome | GGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGG... | GGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGG... |
Task1_train_12471 | A mutation found in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | GTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAG... | GTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAG... |
Task1_train_12472 | This genomic variant is located on Chromosome 7, within the KCNH2 (potassium voltage-gated channel subfamily H member 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Long QT syndrome 2 | AGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGC... | AGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGC... |
Task1_train_12473 | Given this variant in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Long QT syndrome 2 | ATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAG... | ATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAG... |
Task1_train_12474 | This variant lies on Chromosome 7 and affects the gene KCNH2 (potassium voltage-gated channel subfamily H member 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Long QT syndrome | GCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAG... | GCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAG... |
Task1_train_12475 | This mutation occurs in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | CCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGG... | CCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGG... |
Task1_train_12476 | A sequence alteration has been identified in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Long QT syndrome | GACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATC... | GACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATC... |
Task1_train_12477 | A sequence alteration has been identified in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; not provided | AGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAA... | AGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAA... |
Task1_train_12478 | A mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | CTGGAGAGGGGACAAGTTTGAACTTGGGCTGGGGATCTGGGTTCTAATCCCACTCCTTCCACTGATTCACTGGTCATCAGACCTCTGCTTCTCCGTCCTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTG... | CTGGAGAGGGGACAAGTTTGAACTTGGGCTGGGGATCTGGGTTCTAATCCCACTCCTTCCACTGATTCACTGGTCATCAGACCTCTGCTTCTCCGTCCTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTG... |
Task1_train_12479 | This variant lies on Chromosome 7 and affects the gene KCNH2 (potassium voltage-gated channel subfamily H member 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Short QT syndrome type 1 | ATCCCACTCCTTCCACTGATTCACTGGTCATCAGACCTCTGCTTCTCCGTCCTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAA... | ATCCCACTCCTTCCACTGATTCACTGGTCATCAGACCTCTGCTTCTCCGTCCTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAA... |
Task1_train_12480 | The gene KCNH2 (potassium voltage-gated channel subfamily H member 2), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Long QT syndrome | CCGTCCTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAG... | CCGTCCTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAG... |
Task1_train_12481 | The gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Long QT syndrome 2 | CTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTA... | CTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTA... |
Task1_train_12482 | This variant impacts the gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Long QT syndrome 2 | GTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAG... | GTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAG... |
Task1_train_12483 | This variant impacts the gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | AGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTC... | AGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTC... |
Task1_train_12484 | A variant has been detected on Chromosome 7 in KCNH2 (potassium voltage-gated channel subfamily H member 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Short QT syndrome type 1 | CCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACA... | CCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACA... |
Task1_train_12485 | This sequence change occurs on Chromosome 7, altering KCNH2 (potassium voltage-gated channel subfamily H member 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Long QT syndrome | TCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGAC... | TCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGAC... |
Task1_train_12486 | The gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Short QT syndrome type 1 | CTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACT... | CTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACT... |
Task1_train_12487 | The following genetic variant occurs in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Long QT syndrome | CCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTA... | CCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTA... |
Task1_train_12488 | This alteration occurs within gene KCNH2 (potassium voltage-gated channel subfamily H member 2) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Long QT syndrome 2 | GGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTG... | GGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTG... |
Task1_train_12489 | This alteration in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Long QT syndrome | TCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAA... | TCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAA... |
Task1_train_12490 | Assess the clinical impact of this variant on gene KCNH2 (potassium voltage-gated channel subfamily H member 2), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital long QT syndrome | CTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTT... | CTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTT... |
Task1_train_12491 | This variant impacts the gene SLC4A2 (solute carrier family 4 member 2) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Osteopetrosis, autosomal recessive 9 | AAGACCCGCCCTTCACCCCAGCCCTCCCCGCGCTCTTCCTTGTTCTGGCTGCTGGCACCGCTATGGAGGGGGCTGCATACCCCCGCCCTTGGAGATCCCGATGCCCTTCAGGTCCAGAAGCTCTTGAGCAAATATTTGGCGGCGCCTGGAGCTGAGACCGTGGGTGGGTGGGGGGCTGGACCAAGGCTGCCTGGCCAGGCGGCTGCCGCTTAGCTGGGCTGAGCTCTTACAAGCGCCGCATTCCCTGCCGGCTGTGCCGGCCGGCCGCTGCTCCGCGCCCGCAGGATGACTCAGGTGGGGGCTGTGGGGGTGGGGTGAGG... | AAGACCCGCCCTTCACCCCAGCCCTCCCCGCGCTCTTCCTTGTTCTGGCTGCTGGCACCGCTATGGAGGGGGCTGCATACCCCCGCCCTTGGAGATCCCGATGCCCTTCAGGTCCAGAAGCTCTTGAGCAAATATTTGGCGGCGCCTGGAGCTGAGACCGTGGGTGGGTGGGGGGCTGGACCAAGGCTGCCTGGCCAGGCGGCTGCCGCTTAGCTGGGCTGAGCTCTTACAAGCGCCGCATTCCCTGCCGGCTGTGCCGGCCGGCCGCTGCTCCGCGCCCGCAGGATGACTCAGGTGGGGGCTGTGGGGGTGGGGTGAGG... |
Task1_train_12492 | Here’s a variant in SLC4A2 (solute carrier family 4 member 2) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Osteopetrosis, autosomal recessive 9 | AGCCTCCCAAAATGTTGGGAATACAGGCATGAGCCACTGTGCCTGGCTTAAAATTAAATTAAAAAAAAAAAAGTAAACGAAGCAGCTGCTGGGCGCGGTGGCTCATGCCTATAATCCCAGCACCTTGGGAGGCTGAGGTGGGTGGATTACGAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAATCCCATCTCTACTAAAAATACAAAAAATTAGCGGGGCACGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGGTAGAGCTTGCAGTGAGCCAAGA... | AGCCTCCCAAAATGTTGGGAATACAGGCATGAGCCACTGTGCCTGGCTTAAAATTAAATTAAAAAAAAAAAAGTAAACGAAGCAGCTGCTGGGCGCGGTGGCTCATGCCTATAATCCCAGCACCTTGGGAGGCTGAGGTGGGTGGATTACGAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAATCCCATCTCTACTAAAAATACAAAAAATTAGCGGGGCACGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGGTAGAGCTTGCAGTGAGCCAAGA... |
Task1_train_12493 | Assess the clinical impact of this variant on gene RHEB (Ras homolog, mTORC1 binding), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | ATACACAACTCCATGACTTTCCTTCCAACTCAGTTTTTACTTTTGAGACCACATCTTGCTCTGCTGCCCAGGCTGGAGTACAGTGACATGATTACAGATCACTGCAGCCTCAAACTCCTGGGTTCAAGTGATCCGCCTGTCTCAGCTGAGACTACAGGCACACACCATCACGCCCAGCTAATTCCAGCTCAGTATGAAATGGCATGAGGATACAGCCACAATATCCACTTTTAGAGGCAGAGCTTACGAAGAAAACAATCTTCTATTGTTCTGTTAATACAATTCCAAAATGAACCTTATTATTTCAAGGATCTAAAATC... | ATACACAACTCCATGACTTTCCTTCCAACTCAGTTTTTACTTTTGAGACCACATCTTGCTCTGCTGCCCAGGCTGGAGTACAGTGACATGATTACAGATCACTGCAGCCTCAAACTCCTGGGTTCAAGTGATCCGCCTGTCTCAGCTGAGACTACAGGCACACACCATCACGCCCAGCTAATTCCAGCTCAGTATGAAATGGCATGAGGATACAGCCACAATATCCACTTTTAGAGGCAGAGCTTACGAAGAAAACAATCTTCTATTGTTCTGTTAATACAATTCCAAAATGAACCTTATTATTTCAAGGATCTAAAATC... |
Task1_train_12494 | The gene RHEB (Ras homolog, mTORC1 binding), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | ATACACAACTCCATGACTTTCCTTCCAACTCAGTTTTTACTTTTGAGACCACATCTTGCTCTGCTGCCCAGGCTGGAGTACAGTGACATGATTACAGATCACTGCAGCCTCAAACTCCTGGGTTCAAGTGATCCGCCTGTCTCAGCTGAGACTACAGGCACACACCATCACGCCCAGCTAATTCCAGCTCAGTATGAAATGGCATGAGGATACAGCCACAATATCCACTTTTAGAGGCAGAGCTTACGAAGAAAACAATCTTCTATTGTTCTGTTAATACAATTCCAAAATGAACCTTATTATTTCAAGGATCTAAAATC... | ATACACAACTCCATGACTTTCCTTCCAACTCAGTTTTTACTTTTGAGACCACATCTTGCTCTGCTGCCCAGGCTGGAGTACAGTGACATGATTACAGATCACTGCAGCCTCAAACTCCTGGGTTCAAGTGATCCGCCTGTCTCAGCTGAGACTACAGGCACACACCATCACGCCCAGCTAATTCCAGCTCAGTATGAAATGGCATGAGGATACAGCCACAATATCCACTTTTAGAGGCAGAGCTTACGAAGAAAACAATCTTCTATTGTTCTGTTAATACAATTCCAAAATGAACCTTATTATTTCAAGGATCTAAAATC... |
Task1_train_12495 | A mutation in PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Lethal congenital glycogen storage disease of heart | CTCCTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTT... | CTCCTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTT... |
Task1_train_12496 | This sequence change occurs on Chromosome 7, altering PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cardiovascular phenotype | TCCTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTA... | TCCTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTA... |
Task1_train_12497 | Given this context: Chromosome 7, gene PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Cardiovascular phenotype | CTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATG... | CTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATG... |
Task1_train_12498 | A mutation found in PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hypertrophic cardiomyopathy | CTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATG... | CTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATG... |
Task1_train_12499 | A variant affecting Chromosome 7, within the gene PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hypertrophic cardiomyopathy 6 | CTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATG... | CTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATG... |
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