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_15800 | Consider this mutation in PSMC3 (proteasome 26S subunit, ATPase 3) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Cerebellar vermis hypoplasia | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... |
Task1_train_15801 | The following genetic variant occurs in PSMC3 (proteasome 26S subunit, ATPase 3) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; High anterior hairline | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... |
Task1_train_15802 | With a mutation on Chromosome 11 in gene PSMC3 (proteasome 26S subunit, ATPase 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Abnormality of the pulmonary veins | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... |
Task1_train_15803 | Consider a variant on Chromosome 11 in gene PSMC3 (proteasome 26S subunit, ATPase 3). Determine its clinical classification and disease relevance. | Pathogenic; Global developmental delay | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... |
Task1_train_15804 | A mutation in PSMC3 (proteasome 26S subunit, ATPase 3), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Patent ductus arteriosus | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... | GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGT... |
Task1_train_15805 | This mutation occurs in RAPSN (receptor associated protein of the synapse) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not specified | GAGCAAAACTCAATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCTCCCAAAATTCTAGGATTATAGATGTGAGCCACCATGTCCAGCCCACTGTTAGGGGTTTTAATCAACATCAGGAAGCTTCTGAGGAATTCTGCTATCCTCCAAGCTATGAAACTTCTGCCCTGCCCTCAGAAGTGCTGTGTGTGTGGCAGAGAAAGAGCCAGAGTATGGGGTTGGCTGCAGGCAGCTCCCAGCA... | GAGCAAAACTCAATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCTCCCAAAATTCTAGGATTATAGATGTGAGCCACCATGTCCAGCCCACTGTTAGGGGTTTTAATCAACATCAGGAAGCTTCTGAGGAATTCTGCTATCCTCCAAGCTATGAAACTTCTGCCCTGCCCTCAGAAGTGCTGTGTGTGTGGCAGAGAAAGAGCCAGAGTATGGGGTTGGCTGCAGGCAGCTCCCAGCA... |
Task1_train_15806 | This gene mutation involves RAPSN (receptor associated protein of the synapse) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Congenital myasthenic syndrome | GCTCCTGAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTT... | GCTCCTGAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTT... |
Task1_train_15807 | This variant affects gene RAPSN (receptor associated protein of the synapse) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Fetal akinesia deformation sequence 1 | GCTCCTGAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTT... | GCTCCTGAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTT... |
Task1_train_15808 | The variant affects gene RAPSN (receptor associated protein of the synapse), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Congenital myasthenic syndrome 11 | GCTCCTGAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTT... | GCTCCTGAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTT... |
Task1_train_15809 | This is a variant in RAPSN (receptor associated protein of the synapse), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Fetal akinesia deformation sequence 2 | GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATG... | GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATG... |
Task1_train_15810 | A genetic alteration is present in RAPSN (receptor associated protein of the synapse) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Fetal akinesia deformation sequence 2 | GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATG... | GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATG... |
Task1_train_15811 | With a mutation on Chromosome 11 in gene RAPSN (receptor associated protein of the synapse), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Congenital myasthenic syndrome 11 | GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATG... | GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATG... |
Task1_train_15812 | Given this variant in gene RAPSN (receptor associated protein of the synapse) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Congenital myasthenic syndrome 11 | GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATG... | GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATG... |
Task1_train_15813 | A mutation in RAPSN (receptor associated protein of the synapse), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Fetal akinesia deformation sequence 1 | GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATG... | GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATG... |
Task1_train_15814 | A variant affecting Chromosome 11, within the gene RAPSN (receptor associated protein of the synapse), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Fetal akinesia deformation sequence 2 | AAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGA... | AAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGA... |
Task1_train_15815 | An alteration has been detected in RAPSN (receptor associated protein of the synapse) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Congenital myasthenic syndrome 11 | GCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGC... | GCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGC... |
Task1_train_15816 | Given this context: Chromosome 11, gene RAPSN (receptor associated protein of the synapse) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Fetal akinesia deformation sequence 1 | GCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGC... | GCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGC... |
Task1_train_15817 | The gene RAPSN (receptor associated protein of the synapse), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Fetal akinesia deformation sequence 2 | GCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGC... | GCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGC... |
Task1_train_15818 | The gene RAPSN (receptor associated protein of the synapse) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Congenital myasthenic syndrome 11 | CCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCC... | CCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCC... |
Task1_train_15819 | This variant lies on Chromosome 11 and affects the gene RAPSN (receptor associated protein of the synapse). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Fetal akinesia deformation sequence 1 | CCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCC... | CCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCC... |
Task1_train_15820 | Assess the clinical impact of this variant on gene RAPSN (receptor associated protein of the synapse), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Fetal akinesia deformation sequence 1 | AAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCC... | AAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCC... |
Task1_train_15821 | Mutation context: Chromosome 11, Gene RAPSN (receptor associated protein of the synapse). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Congenital myasthenic syndrome 11 | AAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCC... | AAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCC... |
Task1_train_15822 | This variant affects gene PTPRJ (protein tyrosine phosphatase receptor type J) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Carcinoma of colon | CCTTTTAAGCTCCCAGGAAATTGATGCTGTGTTTATATTCCCAGGAGTTTCTGTTGGGCAGGAAAGTTTGGTGTATTTTATAGGGGAGTGTGTGTTTCAAATGAAATAAGAGTTTGATGATATTTAAATTTTAATTCAGATTTGACAGTTTAGATTTTGATTTATCTTAGATGTCAATACCGAAGCCATCTATTATAGCTGCAAACTTAGCTTTTTTTTTAAGCTGAAAAGAACCAAACATTTTAAAAAACAGGTGGAGAAACTTTTTTAAGGTGAGGAGAACCAAAAATTGAAGAAAGAGGTCCTCTGTTAGTTTTCTG... | CCTTTTAAGCTCCCAGGAAATTGATGCTGTGTTTATATTCCCAGGAGTTTCTGTTGGGCAGGAAAGTTTGGTGTATTTTATAGGGGAGTGTGTGTTTCAAATGAAATAAGAGTTTGATGATATTTAAATTTTAATTCAGATTTGACAGTTTAGATTTTGATTTATCTTAGATGTCAATACCGAAGCCATCTATTATAGCTGCAAACTTAGCTTTTTTTTTAAGCTGAAAAGAACCAAACATTTTAAAAAACAGGTGGAGAAACTTTTTTAAGGTGAGGAGAACCAAAAATTGAAGAAAGAGGTCCTCTGTTAGTTTTCTG... |
Task1_train_15823 | Consider this mutation in SERPING1 (serpin family G member 1) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Hereditary angioedema type 1 | CATCAGAGACAACCTGTTTGTTTTGCAGATGAGGCAGAGTTATCAGATTTAGCAAAAATACAAAATGCCAATTATATTTGAATTTCAGATACACAACAATGACAACAAAATTTATTTTACCATAAGTATATTCCAATGTAAGCATTTTTACCATAAGTATATCCCAATGTAAGTTTTTTTTTTTTTTTTTAGAGACAGCAAGTGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCAATGCTAACTGCAGCCTTGAACTCCTGGGCTCAAGGGATCCTCCTGCCTCAGTCTCCTAAAAGGCTGGGATTACAG... | CATCAGAGACAACCTGTTTGTTTTGCAGATGAGGCAGAGTTATCAGATTTAGCAAAAATACAAAATGCCAATTATATTTGAATTTCAGATACACAACAATGACAACAAAATTTATTTTACCATAAGTATATTCCAATGTAAGCATTTTTACCATAAGTATATCCCAATGTAAGTTTTTTTTTTTTTTTTTAGAGACAGCAAGTGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCAATGCTAACTGCAGCCTTGAACTCCTGGGCTCAAGGGATCCTCCTGCCTCAGTCTCCTAAAAGGCTGGGATTACAG... |
Task1_train_15824 | This mutation is located in gene SERPING1 (serpin family G member 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hereditary angioedema type 1 | CATCAGAGACAACCTGTTTGTTTTGCAGATGAGGCAGAGTTATCAGATTTAGCAAAAATACAAAATGCCAATTATATTTGAATTTCAGATACACAACAATGACAACAAAATTTATTTTACCATAAGTATATTCCAATGTAAGCATTTTTACCATAAGTATATCCCAATGTAAGTTTTTTTTTTTTTTTTTAGAGACAGCAAGTGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCAATGCTAACTGCAGCCTTGAACTCCTGGGCTCAAGGGATCCTCCTGCCTCAGTCTCCTAAAAGGCTGGGATTACAG... | CATCAGAGACAACCTGTTTGTTTTGCAGATGAGGCAGAGTTATCAGATTTAGCAAAAATACAAAATGCCAATTATATTTGAATTTCAGATACACAACAATGACAACAAAATTTATTTTACCATAAGTATATTCCAATGTAAGCATTTTTACCATAAGTATATCCCAATGTAAGTTTTTTTTTTTTTTTTTAGAGACAGCAAGTGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCAATGCTAACTGCAGCCTTGAACTCCTGGGCTCAAGGGATCCTCCTGCCTCAGTCTCCTAAAAGGCTGGGATTACAG... |
Task1_train_15825 | Gene SERPING1 (serpin family G member 1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | GCCACCAAAATAACAGCTAATACCACTGATGAACCCACCACACAACCCACCACAGAGCCCACCACCCAACCCACCATCCAACCCACCCAACCAACTACCCAGCTCCCAACAGATTCTCCTACCCAGCCCACTACTGGGTCCTTCTGCCCAGGACCTGTTACTCTCTGCTCTGACTTGGAGAGTCATTCAACAGAGGCCGTGTTGGGGGATGCTTTGGTAGATTTCTCCCTGAAGCTCTACCACGCCTTCTCAGCAATGAAGAAGGTGGAGACCAACATGGCCTTTTCCCCATTCAGCATCGCCAGCCTCCTTACCCAGGT... | GCCACCAAAATAACAGCTAATACCACTGATGAACCCACCACACAACCCACCACAGAGCCCACCACCCAACCCACCATCCAACCCACCCAACCAACTACCCAGCTCCCAACAGATTCTCCTACCCAGCCCACTACTGGGTCCTTCTGCCCAGGACCTGTTACTCTCTGCTCTGACTTGGAGAGTCATTCAACAGAGGCCGTGTTGGGGGATGCTTTGGTAGATTTCTCCCTGAAGCTCTACCACGCCTTCTCAGCAATGAAGAAGGTGGAGACCAACATGGCCTTTTCCCCATTCAGCATCGCCAGCCTCCTTACCCAGGT... |
Task1_train_15826 | A mutation on Chromosome 11 affecting SERPING1 (serpin family G member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | CACTTACTGTAACCTCAAGCTCCTTGGGATGAAGCAGTCCTCCCACCCTAGCCTCTTAAGTAGCTGAGATTCCAGGCATGAGCCACCTCACCCAGCTGATTTTCTTTTTAAACACATCTAATACCTGACAGGTCGTAATTACGACTGTGCTTGGCCATATCATCCTAACACCTAAAGCTCACTTGTAAACTGAAAATTAAATTTGAAGGGTGAATTAACTTCTAGCCAACATTCCAATATCATTCTCACATTTAATGAAATTATCCTACAACTTTGCTTAAAAGCATAAAACTAGCATGTCAGAGTCTCTTAAAAATTAC... | CACTTACTGTAACCTCAAGCTCCTTGGGATGAAGCAGTCCTCCCACCCTAGCCTCTTAAGTAGCTGAGATTCCAGGCATGAGCCACCTCACCCAGCTGATTTTCTTTTTAAACACATCTAATACCTGACAGGTCGTAATTACGACTGTGCTTGGCCATATCATCCTAACACCTAAAGCTCACTTGTAAACTGAAAATTAAATTTGAAGGGTGAATTAACTTCTAGCCAACATTCCAATATCATTCTCACATTTAATGAAATTATCCTACAACTTTGCTTAAAAGCATAAAACTAGCATGTCAGAGTCTCTTAAAAATTAC... |
Task1_train_15827 | This mutation occurs in SERPING1 (serpin family G member 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | TCAGCCACCCCGTGGAATATGCAAGAAGCTATCTGGAAGTGCAGATCTGGAGGCTTCTGAGTTTACGAGAGGCAACAGAGACTCCATTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGAT... | TCAGCCACCCCGTGGAATATGCAAGAAGCTATCTGGAAGTGCAGATCTGGAGGCTTCTGAGTTTACGAGAGGCAACAGAGACTCCATTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGAT... |
Task1_train_15828 | This variant affects the gene SERPING1 (serpin family G member 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary C1 esterase inhibitor deficiency - dysfunctional factor | AGACTCCATTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGC... | AGACTCCATTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGC... |
Task1_train_15829 | Located on Chromosome 11, this mutation impacts SERPING1 (serpin family G member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hereditary C1 esterase inhibitor deficiency - dysfunctional factor | TCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAG... | TCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAG... |
Task1_train_15830 | A variant was discovered in gene SERPING1 (serpin family G member 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hereditary angioedema type 1 | CTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGA... | CTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGA... |
Task1_train_15831 | A variant was discovered on Chromosome 11, affecting SERPING1 (serpin family G member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hereditary angioedema type 1 | TTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTA... | TTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTA... |
Task1_train_15832 | Located on Chromosome 11, this mutation impacts SERPING1 (serpin family G member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | GACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTT... | GACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTT... |
Task1_train_15833 | This variant affects the gene SERPING1 (serpin family G member 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary C1 esterase inhibitor deficiency - dysfunctional factor | CGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTT... | CGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTT... |
Task1_train_15834 | A variant was discovered in gene SERPING1 (serpin family G member 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hereditary angioedema type 1 | CGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTT... | CGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTT... |
Task1_train_15835 | This alteration occurs within gene SERPING1 (serpin family G member 1) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Hereditary angioedema type 1 | GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTT... | GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTT... |
Task1_train_15836 | The variant affects gene SERPING1 (serpin family G member 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Inborn genetic diseases | GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTT... | GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTT... |
Task1_train_15837 | This variant affects the gene SERPING1 (serpin family G member 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary angioedema type 1 | GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTT... | GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTT... |
Task1_train_15838 | A mutation on Chromosome 11 affecting SERPING1 (serpin family G member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; C1 inhibitor deficiency | GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTT... | GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTT... |
Task1_train_15839 | Gene SERPING1 (serpin family G member 1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTT... | GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTT... |
Task1_train_15840 | Given this context: Chromosome 11, gene SERPING1 (serpin family G member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hereditary angioedema type 1 | AGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGA... | AGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGA... |
Task1_train_15841 | Mutation context: Chromosome 11, Gene SERPING1 (serpin family G member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hereditary angioedema type 1 | AGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACT... | AGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACT... |
Task1_train_15842 | A variant affecting Chromosome 11, within the gene TMX2, TMX2-CTNND1 (thioredoxin related transmembrane protein 2| TMX2-CTNND1 readthrough (NMD candidate)), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | CATCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGTTCACTGCAGCCTCGACCTCCTGTGTTCAAGCGATTCTCCTCCCTTAGCCTCCTGAGTAGCTGGGGCTACAGGCATGCATTACCACGCCCGGTTAATCTTGTATATTTTGTAGAGACTGGGTCTCGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGGCTCAAGGGATTCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCGTGAGCAACGCGCCTGGCCACCTTCAATTTTTATCATGTTTTCTTTTCCTAGCATTAACCACTTTCTGACATTAT... | CATCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGTTCACTGCAGCCTCGACCTCCTGTGTTCAAGCGATTCTCCTCCCTTAGCCTCCTGAGTAGCTGGGGCTACAGGCATGCATTACCACGCCCGGTTAATCTTGTATATTTTGTAGAGACTGGGTCTCGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGGCTCAAGGGATTCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCGTGAGCAACGCGCCTGGCCACCTTCAATTTTTATCATGTTTTCTTTTCCTAGCATTAACCACTTTCTGACATTAT... |
Task1_train_15843 | An alteration has been detected in TMX2-CTNND1, TMX2 (TMX2-CTNND1 readthrough (NMD candidate)| thioredoxin related transmembrane protein 2) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | TGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGTTCACTGCAGCCTCGACCTCCTGTGTTCAAGCGATTCTCCTCCCTTAGCCTCCTGAGTAGCTGGGGCTACAGGCATGCATTACCACGCCCGGTTAATCTTGTATATTTTGTAGAGACTGGGTCTCGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGGCTCAAGGGATTCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCGTGAGCAACGCGCCTGGCCACCTTCAATTTTTATCATGTTTTCTTTTCCTAGCATTAACCACTTTCTGACATTATCTTGTTT... | TGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGTTCACTGCAGCCTCGACCTCCTGTGTTCAAGCGATTCTCCTCCCTTAGCCTCCTGAGTAGCTGGGGCTACAGGCATGCATTACCACGCCCGGTTAATCTTGTATATTTTGTAGAGACTGGGTCTCGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGGCTCAAGGGATTCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCGTGAGCAACGCGCCTGGCCACCTTCAATTTTTATCATGTTTTCTTTTCCTAGCATTAACCACTTTCTGACATTATCTTGTTT... |
Task1_train_15844 | This gene mutation involves TMX2, TMX2-CTNND1 (thioredoxin related transmembrane protein 2| TMX2-CTNND1 readthrough (NMD candidate)) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | CCCAGGCTGGAGTGCAGTGGCACAATCTTGGTTCACTGCAGCCTCGACCTCCTGTGTTCAAGCGATTCTCCTCCCTTAGCCTCCTGAGTAGCTGGGGCTACAGGCATGCATTACCACGCCCGGTTAATCTTGTATATTTTGTAGAGACTGGGTCTCGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGGCTCAAGGGATTCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCGTGAGCAACGCGCCTGGCCACCTTCAATTTTTATCATGTTTTCTTTTCCTAGCATTAACCACTTTCTGACATTATCTTGTTTAC... | CCCAGGCTGGAGTGCAGTGGCACAATCTTGGTTCACTGCAGCCTCGACCTCCTGTGTTCAAGCGATTCTCCTCCCTTAGCCTCCTGAGTAGCTGGGGCTACAGGCATGCATTACCACGCCCGGTTAATCTTGTATATTTTGTAGAGACTGGGTCTCGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGGCTCAAGGGATTCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCGTGAGCAACGCGCCTGGCCACCTTCAATTTTTATCATGTTTTCTTTTCCTAGCATTAACCACTTTCTGACATTATCTTGTTTAC... |
Task1_train_15845 | This mutation is located in gene FAM111B (FAM111 trypsin like peptidase B) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hereditary sclerosing poikiloderma with tendon and pulmonary involvement | AAAATCAAAGTACTACTTTTAAGAATCAGAAAACAAAATCAAAGTATACAGAGAAAAAAAATTAAAAATTAAAATAAAGTGTAGAATGAGTATCTAAATTGATAGAATAGTGATTGATTTTTTCTCCATTATTCGTTAACCATTATATTATCTAATTTTTATTCATAATATCTATTAGTTCTATCATTAGAAAAATATAAAACATTATTAAAGGTGATTCTTGTTAACCTCTTTAATCTTTCCTTTTTAAGGATACTGTCATGAAGCAGACACATGCTGACACACCTGTTGATCATTGTCTATCTGGCATAAGAAAGTGT... | AAAATCAAAGTACTACTTTTAAGAATCAGAAAACAAAATCAAAGTATACAGAGAAAAAAAATTAAAAATTAAAATAAAGTGTAGAATGAGTATCTAAATTGATAGAATAGTGATTGATTTTTTCTCCATTATTCGTTAACCATTATATTATCTAATTTTTATTCATAATATCTATTAGTTCTATCATTAGAAAAATATAAAACATTATTAAAGGTGATTCTTGTTAACCTCTTTAATCTTTCCTTTTTAAGGATACTGTCATGAAGCAGACACATGCTGACACACCTGTTGATCATTGTCTATCTGGCATAAGAAAGTGT... |
Task1_train_15846 | Here is a genetic alteration in FAM111B (FAM111 trypsin like peptidase B) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hereditary sclerosing poikiloderma with tendon and pulmonary involvement | TCAAAGTACTACTTTTAAGAATCAGAAAACAAAATCAAAGTATACAGAGAAAAAAAATTAAAAATTAAAATAAAGTGTAGAATGAGTATCTAAATTGATAGAATAGTGATTGATTTTTTCTCCATTATTCGTTAACCATTATATTATCTAATTTTTATTCATAATATCTATTAGTTCTATCATTAGAAAAATATAAAACATTATTAAAGGTGATTCTTGTTAACCTCTTTAATCTTTCCTTTTTAAGGATACTGTCATGAAGCAGACACATGCTGACACACCTGTTGATCATTGTCTATCTGGCATAAGAAAGTGTAGCA... | TCAAAGTACTACTTTTAAGAATCAGAAAACAAAATCAAAGTATACAGAGAAAAAAAATTAAAAATTAAAATAAAGTGTAGAATGAGTATCTAAATTGATAGAATAGTGATTGATTTTTTCTCCATTATTCGTTAACCATTATATTATCTAATTTTTATTCATAATATCTATTAGTTCTATCATTAGAAAAATATAAAACATTATTAAAGGTGATTCTTGTTAACCTCTTTAATCTTTCCTTTTTAAGGATACTGTCATGAAGCAGACACATGCTGACACACCTGTTGATCATTGTCTATCTGGCATAAGAAAGTGTAGCA... |
Task1_train_15847 | This variant affects gene FAM111B (FAM111 trypsin like peptidase B) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary sclerosing poikiloderma with tendon and pulmonary involvement | AAGTACTACTTTTAAGAATCAGAAAACAAAATCAAAGTATACAGAGAAAAAAAATTAAAAATTAAAATAAAGTGTAGAATGAGTATCTAAATTGATAGAATAGTGATTGATTTTTTCTCCATTATTCGTTAACCATTATATTATCTAATTTTTATTCATAATATCTATTAGTTCTATCATTAGAAAAATATAAAACATTATTAAAGGTGATTCTTGTTAACCTCTTTAATCTTTCCTTTTTAAGGATACTGTCATGAAGCAGACACATGCTGACACACCTGTTGATCATTGTCTATCTGGCATAAGAAAGTGTAGCAGCA... | AAGTACTACTTTTAAGAATCAGAAAACAAAATCAAAGTATACAGAGAAAAAAAATTAAAAATTAAAATAAAGTGTAGAATGAGTATCTAAATTGATAGAATAGTGATTGATTTTTTCTCCATTATTCGTTAACCATTATATTATCTAATTTTTATTCATAATATCTATTAGTTCTATCATTAGAAAAATATAAAACATTATTAAAGGTGATTCTTGTTAACCTCTTTAATCTTTCCTTTTTAAGGATACTGTCATGAAGCAGACACATGCTGACACACCTGTTGATCATTGTCTATCTGGCATAAGAAAGTGTAGCAGCA... |
Task1_train_15848 | A genomic change on Chromosome 11 affects MPEG1 (macrophage expressed 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Immunodeficiency 77 | TCTGCTGGAAAAAAAAGTAGTTTGCATAATTGGTGTTAACTACTCTGTTTTGATTCTACAGAGTAAGTAATACTCAAATGTGGTCTTACTTTAACTTCTTGCCTTTGTTACCCCCAGAACCATGCAGACATTGAAATGTGGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCATATAACAGGAGGACAGGAAAGGTAAGGACCCAGAACAATGAAGACTTATTGAAATGTGGTATGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCATATAACAGGAGGACAGGAAAGGTAATGA... | TCTGCTGGAAAAAAAAGTAGTTTGCATAATTGGTGTTAACTACTCTGTTTTGATTCTACAGAGTAAGTAATACTCAAATGTGGTCTTACTTTAACTTCTTGCCTTTGTTACCCCCAGAACCATGCAGACATTGAAATGTGGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCATATAACAGGAGGACAGGAAAGGTAAGGACCCAGAACAATGAAGACTTATTGAAATGTGGTATGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCATATAACAGGAGGACAGGAAAGGTAATGA... |
Task1_train_15849 | The gene MPEG1 (macrophage expressed 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Primary ciliary dyskinesia 3 | TATGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCATATAACAGGAGGACAGGAAAGGTAATGACCATCCATGGAAGATGAAGGGGTAGTACTTAGCACCAGAATCTTTTCCAGTTTTTACCCATCTTTCATTACTCCTTGTCTCCAAATCATCCCTTCCTTAATAACTTAAAATAACTTAAAATATTTTCTGAGGACTTGATGACACCAGTCAGAAGTCCAAGAGTGGTCTGGTATAAGGGAGTGTTCATCAAGGGGCAGCTGGAAAAAGTGGAATTGGCACAGGCAACATCTTTCTTTTCAG... | TATGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCATATAACAGGAGGACAGGAAAGGTAATGACCATCCATGGAAGATGAAGGGGTAGTACTTAGCACCAGAATCTTTTCCAGTTTTTACCCATCTTTCATTACTCCTTGTCTCCAAATCATCCCTTCCTTAATAACTTAAAATAACTTAAAATATTTTCTGAGGACTTGATGACACCAGTCAGAAGTCCAAGAGTGGTCTGGTATAAGGGAGTGTTCATCAAGGGGCAGCTGGAAAAAGTGGAATTGGCACAGGCAACATCTTTCTTTTCAG... |
Task1_train_15850 | The following genetic variant occurs in ZP1 (zona pellucida glycoprotein 1) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Female infertility due to zona pellucida defect | CCCCCACCCTCTTGCACGTGGACTTCAGGCTTCATGTGCGCTGTGTCTTCAACGCCAGTGACTTCCTGCCCATTCAGGCATCCATTTTCCCACCCCCATCGCCTGCTCCTATGACCCAGCCCGGCCCCCTGCGGCTTGAGCTGCGGATTGCCAAAGGTATGCTATGCTATCCCTGCTCTCTTCTGGCCCCCACTTCCCTGATGCACAGCCCGCCCTGGCTCATGAGTCACTCTCCCTGCAGACGAGACCTTCAGCTCGTACTATGGGGAGGATGACTATCCCATCGTGAGGCTGCTCCGAGAACCAGTCCATGTGGAGGT... | CCCCCACCCTCTTGCACGTGGACTTCAGGCTTCATGTGCGCTGTGTCTTCAACGCCAGTGACTTCCTGCCCATTCAGGCATCCATTTTCCCACCCCCATCGCCTGCTCCTATGACCCAGCCCGGCCCCCTGCGGCTTGAGCTGCGGATTGCCAAAGGTATGCTATGCTATCCCTGCTCTCTTCTGGCCCCCACTTCCCTGATGCACAGCCCGCCCTGGCTCATGAGTCACTCTCCCTGCAGACGAGACCTTCAGCTCGTACTATGGGGAGGATGACTATCCCATCGTGAGGCTGCTCCGAGAACCAGTCCATGTGGAGGT... |
Task1_train_15851 | A variant has been detected on Chromosome 11 in DDB1 (damage specific DNA binding protein 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; White-Kernohan syndrome | GACCAACCTCACCGATGCTGAAGTGATCTAGATAAACAGCAGATGAACAAATGTCTCCAAGCATCTGCCAGGGTCCACACAGGAGTGGAAAGGTGGTAAATGCAGCCCTAATAGAGCCCTACGAATAAGCTACATGAGGCTTCTATTTCTTATTCCCCAAAGTCCTGCTAATGATTACAATAGATGTCATTTTTGCATGAATGCCTGAAGGAGGCCAGCTTAAAAGTAGCTTACAGCTTACAAACCTACAGCTGGTGGGGAAAAGGCCTATTTCATTCTAATTGAGACTTACTTGGGTAATACAAACTGCATCCTGTGGG... | GACCAACCTCACCGATGCTGAAGTGATCTAGATAAACAGCAGATGAACAAATGTCTCCAAGCATCTGCCAGGGTCCACACAGGAGTGGAAAGGTGGTAAATGCAGCCCTAATAGAGCCCTACGAATAAGCTACATGAGGCTTCTATTTCTTATTCCCCAAAGTCCTGCTAATGATTACAATAGATGTCATTTTTGCATGAATGCCTGAAGGAGGCCAGCTTAAAAGTAGCTTACAGCTTACAAACCTACAGCTGGTGGGGAAAAGGCCTATTTCATTCTAATTGAGACTTACTTGGGTAATACAAACTGCATCCTGTGGG... |
Task1_train_15852 | A genomic change on Chromosome 11 affects DDB1 (damage specific DNA binding protein 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | AAAACATTACATGCAATAGAAATTGCCAAAATTACGGCTGGGCACAGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGATGGCACATGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAA... | AAAACATTACATGCAATAGAAATTGCCAAAATTACGGCTGGGCACAGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGATGGCACATGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAA... |
Task1_train_15853 | Assess the clinical impact of this variant on gene TMEM138 (transmembrane protein 138), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Joubert syndrome 16 | AAAGGACAGGCCTCGTGGTGTCCCTCAGGACATAGTACCTGCTCTTGGGTCCTCACACAGGCCTTCATTGGTTGTACTTTTTTTTATGTCTACAGCATCCAGGATATTGCAGTCCTCTTCAACATCATCATCATTTTCCTCATGTTCTTCAACACCTTCGTCTTCCAGGCTGGCCTGGTCAACCTCCTATTCCATAAGTTCAAAGGGACCATCATCCTGACAGCTGTGTACTTTGCCCTCAGCATCTCCCTTCATGTCTGGGTCATGGTAAGAGTGGCAGTCTGAATTCTTTTTTTAATTTTTATTTTAAATAGAGGTGG... | AAAGGACAGGCCTCGTGGTGTCCCTCAGGACATAGTACCTGCTCTTGGGTCCTCACACAGGCCTTCATTGGTTGTACTTTTTTTTATGTCTACAGCATCCAGGATATTGCAGTCCTCTTCAACATCATCATCATTTTCCTCATGTTCTTCAACACCTTCGTCTTCCAGGCTGGCCTGGTCAACCTCCTATTCCATAAGTTCAAAGGGACCATCATCCTGACAGCTGTGTACTTTGCCCTCAGCATCTCCCTTCATGTCTGGGTCATGGTAAGAGTGGCAGTCTGAATTCTTTTTTTAATTTTTATTTTAAATAGAGGTGG... |
Task1_train_15854 | Consider this mutation in TMEM138 (transmembrane protein 138) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Joubert syndrome 16 | CCGCTTCCTGGGTTCAAGCAATTCTCCTCCCTCAGTCTCCTGAGTACCTGGGATTACAGGCACGCACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCGGGATGGTCTCAATCTCTTGACCTCGTGATCCTCCTGCCTCGGCCTCTGAAGTGCTAGGATTACAGGCGTGAGCTACTGCGCCCGGCCACTGGGATATCTTTTCTCTGGGAACCCAGCTTCATTCTTTGACATCTCACACAATCCTTCGTAGAGAACAGGTGAAATGAAAGTGGTTTGGGTTGGAGCCCTGGGCA... | CCGCTTCCTGGGTTCAAGCAATTCTCCTCCCTCAGTCTCCTGAGTACCTGGGATTACAGGCACGCACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCGGGATGGTCTCAATCTCTTGACCTCGTGATCCTCCTGCCTCGGCCTCTGAAGTGCTAGGATTACAGGCGTGAGCTACTGCGCCCGGCCACTGGGATATCTTTTCTCTGGGAACCCAGCTTCATTCTTTGACATCTCACACAATCCTTCGTAGAGAACAGGTGAAATGAAAGTGGTTTGGGTTGGAGCCCTGGGCA... |
Task1_train_15855 | This variant affects the gene TMEM216 (transmembrane protein 216) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Familial aplasia of the vermis | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... |
Task1_train_15856 | A change on Chromosome 11 affects gene TMEM216 (transmembrane protein 216). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Joubert syndrome 2 | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... |
Task1_train_15857 | This variant affects the gene TMEM216 (transmembrane protein 216) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Meckel syndrome, type 2 | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... |
Task1_train_15858 | This mutation occurs in TMEM216 (transmembrane protein 216) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Meckel syndrome, type 2 | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... |
Task1_train_15859 | Gene TMEM216 (transmembrane protein 216) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Joubert syndrome 2 | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... |
Task1_train_15860 | The variant affects gene TMEM216 (transmembrane protein 216), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Inborn genetic diseases | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... |
Task1_train_15861 | Consider a variant on Chromosome 11 in gene TMEM216 (transmembrane protein 216). Determine its clinical classification and disease relevance. | Pathogenic; Meckel syndrome, type 2 | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... |
Task1_train_15862 | This alteration occurs within gene TMEM216 (transmembrane protein 216) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Familial aplasia of the vermis | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... |
Task1_train_15863 | A genomic change on Chromosome 11 affects TMEM216 (transmembrane protein 216). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Joubert syndrome 2 | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... |
Task1_train_15864 | This sequence change occurs on Chromosome 11, altering TMEM216 (transmembrane protein 216). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Meckel syndrome, type 2 | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... |
Task1_train_15865 | Assess the clinical impact of this variant on gene TMEM216 (transmembrane protein 216), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Joubert syndrome 2 | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... |
Task1_train_15866 | Gene TMEM216 (transmembrane protein 216), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; TMEM216-related disorder | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... | CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGC... |
Task1_train_15867 | This variant affects the gene SDHAF2 (succinate dehydrogenase complex assembly factor 2) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | TCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCT... | TCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCT... |
Task1_train_15868 | A genetic alteration is present in SDHAF2 (succinate dehydrogenase complex assembly factor 2) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary pheochromocytoma-paraganglioma | TCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCT... | TCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCT... |
Task1_train_15869 | This sequence change occurs on Chromosome 11, altering SDHAF2 (succinate dehydrogenase complex assembly factor 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Paragangliomas 2 | TCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCT... | TCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCT... |
Task1_train_15870 | A variant has been detected on Chromosome 11 in MYRF (myelin regulatory factor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Encephalitis/encephalopathy, mild, with reversible myelin vacuolization | CCCAGGACCCCATCAAGGTCCTGGAGCAGGGCCTGGGAGCACTCATTTCACAGAAGAGCAAACAGGCTCAGGGAAGAGCCAGGACTGGCAGTCAGGGCTCCTGACTCCTAGGCCAGCCCCAGGCCTCCCTGAGAAGGTGATGACTGCCAGGGAGGGGCAGCTGGGAACCAAGTCAGGGAGAAGTGGGCAGATGGGTGTTTTTTCCCCCGGTTCCTCCTTCCCCACCTCCTCCCTCTGCATTCCAGGAAGGTAGCCGGAAGCTGAGCCCAAGCTGGGCCCTCCCGGCAGCCCCCTCCCTAGAGGGAGGGAGGAGGGGCTGG... | CCCAGGACCCCATCAAGGTCCTGGAGCAGGGCCTGGGAGCACTCATTTCACAGAAGAGCAAACAGGCTCAGGGAAGAGCCAGGACTGGCAGTCAGGGCTCCTGACTCCTAGGCCAGCCCCAGGCCTCCCTGAGAAGGTGATGACTGCCAGGGAGGGGCAGCTGGGAACCAAGTCAGGGAGAAGTGGGCAGATGGGTGTTTTTTCCCCCGGTTCCTCCTTCCCCACCTCCTCCCTCTGCATTCCAGGAAGGTAGCCGGAAGCTGAGCCCAAGCTGGGCCCTCCCGGCAGCCCCCTCCCTAGAGGGAGGGAGGAGGGGCTGG... |
Task1_train_15871 | A change on Chromosome 11 affects gene MYRF (myelin regulatory factor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cardiac-urogenital syndrome | CTGTGCCTGGTTCTATCCACAGGCCCCAGCCAGATGGCCCTTCTGCCAGTCACCAACATCAGAGCCAAGTCCTGGGGTCTTTCAGTCAATGGCATTGGCCACTCCAAGCATCACAAGAGTCTGGAGCCTCTGGCCAGCCCTGCAGTCCCCTTCCCTGGGGGGCAGGGCAAAGCCAAGAACAGTCCCAGCCTTGGTTTCCATGGCCGGGCCCGCCGAGGGGCCCTCCAGTCCAGCGTGGGCCCTGCTGAGCCCACCTGGGCCCAGGGCCAGTCAGGTACTTGCTGCACCCCTGACACTACCCAGCCCAGCCTGGCAAGGCT... | CTGTGCCTGGTTCTATCCACAGGCCCCAGCCAGATGGCCCTTCTGCCAGTCACCAACATCAGAGCCAAGTCCTGGGGTCTTTCAGTCAATGGCATTGGCCACTCCAAGCATCACAAGAGTCTGGAGCCTCTGGCCAGCCCTGCAGTCCCCTTCCCTGGGGGGCAGGGCAAAGCCAAGAACAGTCCCAGCCTTGGTTTCCATGGCCGGGCCCGCCGAGGGGCCCTCCAGTCCAGCGTGGGCCCTGCTGAGCCCACCTGGGCCCAGGGCCAGTCAGGTACTTGCTGCACCCCTGACACTACCCAGCCCAGCCTGGCAAGGCT... |
Task1_train_15872 | Consider a variant on Chromosome 11 in gene BEST1 (bestrophin 1). Determine its clinical classification and disease relevance. | Pathogenic; not provided | CATATGCAGAATTCTGTCATTTTACTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACAC... | CATATGCAGAATTCTGTCATTTTACTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACAC... |
Task1_train_15873 | Gene BEST1 (bestrophin 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Macular dystrophy | ATTCTGTCATTTTACTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCA... | ATTCTGTCATTTTACTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCA... |
Task1_train_15874 | A sequence alteration has been identified in BEST1 (bestrophin 1) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Vitelliform macular dystrophy 2 | GTCATTTTACTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCC... | GTCATTTTACTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCC... |
Task1_train_15875 | This variant affects gene BEST1 (bestrophin 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Retinal dystrophy | TCATTTTACTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCT... | TCATTTTACTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCT... |
Task1_train_15876 | Consider this mutation in BEST1 (bestrophin 1) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Retinal dystrophy | CTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTC... | CTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTC... |
Task1_train_15877 | Here is a genetic alteration in BEST1 (bestrophin 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Retinal dystrophy | CTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTC... | CTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTC... |
Task1_train_15878 | This variant lies on Chromosome 11 and affects the gene BEST1 (bestrophin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Retinal dystrophy | GGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGG... | GGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGG... |
Task1_train_15879 | A variant was discovered on Chromosome 11, affecting BEST1 (bestrophin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | GGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGA... | GGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGA... |
Task1_train_15880 | This gene mutation involves BEST1 (bestrophin 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Retinal dystrophy | AAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGT... | AAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGT... |
Task1_train_15881 | This is a variant in BEST1 (bestrophin 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | CAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGA... | CAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGA... |
Task1_train_15882 | This alteration in BEST1 (bestrophin 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | CAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGA... | CAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGA... |
Task1_train_15883 | This is a variant in BEST1 (bestrophin 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Vitelliform macular dystrophy 2 | TTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGC... | TTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGC... |
Task1_train_15884 | Here is a genetic alteration in BEST1 (bestrophin 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Retinal dystrophy | CAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTA... | CAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTA... |
Task1_train_15885 | Given this context: Chromosome 11, gene BEST1 (bestrophin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autosomal recessive bestrophinopathy | CTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCT... | CTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCT... |
Task1_train_15886 | This mutation is located in gene BEST1 (bestrophin 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Retinal dystrophy | CTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCT... | CTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCT... |
Task1_train_15887 | A variant was discovered on Chromosome 11, affecting BEST1 (bestrophin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | AGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCC... | AGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCC... |
Task1_train_15888 | Gene BEST1 (bestrophin 1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Retinal dystrophy | GTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCA... | GTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCA... |
Task1_train_15889 | Here is a variant affecting BEST1 (bestrophin 1) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | CAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTT... | CAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTT... |
Task1_train_15890 | The variant affects gene BEST1 (bestrophin 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | AATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTA... | AATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTA... |
Task1_train_15891 | This mutation occurs in BEST1 (bestrophin 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | ATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACAC... | ATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACAC... |
Task1_train_15892 | Here is a genetic alteration in BEST1 (bestrophin 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | ATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACAC... | ATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACAC... |
Task1_train_15893 | An alteration has been detected in BEST1 (bestrophin 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | ATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGC... | ATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGC... |
Task1_train_15894 | A variant on Chromosome 11 in gene BEST1 (bestrophin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | TATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCA... | TATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCA... |
Task1_train_15895 | A variant found in Chromosome 11 affects BEST1 (bestrophin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | GATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTT... | GATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTT... |
Task1_train_15896 | Given a variant located on Chromosome 11 and affecting BEST1 (bestrophin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Retinal dystrophy | ACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTT... | ACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTT... |
Task1_train_15897 | Here is a mutation in BEST1 (bestrophin 1) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Retinal dystrophy | CCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAA... | CCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAA... |
Task1_train_15898 | Given this variant in gene BEST1 (bestrophin 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | AGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAAT... | AGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAAT... |
Task1_train_15899 | The variant affects gene BEST1 (bestrophin 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | TGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGA... | TGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGA... |
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