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_28200 | Here is a variant affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | ACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACC... | ACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACC... |
Task1_train_28201 | A change on Chromosome 20 affects gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 7 | CCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCA... | CCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCA... |
Task1_train_28202 | A genomic change on Chromosome 20 affects KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGAC... | TGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGAC... |
Task1_train_28203 | Given a variant located on Chromosome 20 and affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGC... | CGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGC... |
Task1_train_28204 | Chromosome 20 houses a mutation in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Developmental and epileptic encephalopathy, 1 | CTGCTCTCCAGCCCCGCCGCTTAGAAAAAATCCCCCTCCCAAAGGGGCCGCCTCCCTGAGTCCAAGCCACCCCTGCCCACAGCAAAGGAGCTGAGGAGAGCCTGGGAGCTCAGGGAGGTTCAGGGAGCTCCGTGCCCACAGCAAAGGAGCTGAGGAGAGGCCTAGTGCAGGCTGGAAGGCGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCC... | CTGCTCTCCAGCCCCGCCGCTTAGAAAAAATCCCCCTCCCAAAGGGGCCGCCTCCCTGAGTCCAAGCCACCCCTGCCCACAGCAAAGGAGCTGAGGAGAGCCTGGGAGCTCAGGGAGGTTCAGGGAGCTCCGTGCCCACAGCAAAGGAGCTGAGGAGAGGCCTAGTGCAGGCTGGAAGGCGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCC... |
Task1_train_28205 | Mutation context: Chromosome 20, Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Seizures, benign familial neonatal, 1 | CAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGCAGAGCGGGGCGCTGGCCAGGCTGTCAGGGCAGGAGGGTTGTGGGGGTGGGTTCTATCCTACCCTCCTCCGGGGAGTCACCTTGGGCAGGGACCTGGCTGA... | CAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGCAGAGCGGGGCGCTGGCCAGGCTGTCAGGGCAGGAGGGTTGTGGGGGTGGGTTCTATCCTACCCTCCTCCGGGGAGTCACCTTGGGCAGGGACCTGGCTGA... |
Task1_train_28206 | This sequence change occurs on Chromosome 20, altering KCNQ2 (potassium voltage-gated channel subfamily Q member 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGCAGAGCGGGGCGCTGGCCAGGCTGTCAGGGCAGGAGGGTTGTGGGGGTGGGTTCTATCCTACCCTCCTCCGGGGAGTCACCTTGGGCAGGGACCTGGCTGA... | CAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGCAGAGCGGGGCGCTGGCCAGGCTGTCAGGGCAGGAGGGTTGTGGGGGTGGGTTCTATCCTACCCTCCTCCGGGGAGTCACCTTGGGCAGGGACCTGGCTGA... |
Task1_train_28207 | A mutation in KCNQ2 (potassium voltage-gated channel subfamily Q member 2), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGCAGAGCGGGGCGCTGGCCAGGCTGTCAGGGCAGGAGGGTTGTGGGGGTGGGTTCTATCCTACCCTCCTCCGGGGAGTCACCTTGGGCAGGGACCTGGCTGAC... | AGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGCAGAGCGGGGCGCTGGCCAGGCTGTCAGGGCAGGAGGGTTGTGGGGGTGGGTTCTATCCTACCCTCCTCCGGGGAGTCACCTTGGGCAGGGACCTGGCTGAC... |
Task1_train_28208 | Here is a mutation in EEF1A2 (eukaryotic translation elongation factor 1 alpha 2) on Chromosome 20. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Developmental and epileptic encephalopathy, 33 | AGATTTGGTTGAGGATGTTGAGATGGGGGCAATCCCAGATTATCCCAGGTGGGCCCTAAGTGCAGTCACTCGCATCCTCATGAGAAGGAGATTTGACACAGAGGAGGAGAGAGCAGTGTGGCGACAGAGGCAGAGACTGGAGTGACGCAGCCACAAGCCAAGGGGTGTCGGCAGCCACGGCAAGGGGTGAAGCAGGGAACCGACTCTCCTGGGGCCTCCAGAGGAGCAGAGCCCCATCGACACCTTGATTTCGGCAGGGAGGCTGGTTTTGGCCTGACCCCAGGAGGCCTCGCCATTTGCCGTCATTGGTCGCAGCATCC... | AGATTTGGTTGAGGATGTTGAGATGGGGGCAATCCCAGATTATCCCAGGTGGGCCCTAAGTGCAGTCACTCGCATCCTCATGAGAAGGAGATTTGACACAGAGGAGGAGAGAGCAGTGTGGCGACAGAGGCAGAGACTGGAGTGACGCAGCCACAAGCCAAGGGGTGTCGGCAGCCACGGCAAGGGGTGAAGCAGGGAACCGACTCTCCTGGGGCCTCCAGAGGAGCAGAGCCCCATCGACACCTTGATTTCGGCAGGGAGGCTGGTTTTGGCCTGACCCCAGGAGGCCTCGCCATTTGCCGTCATTGGTCGCAGCATCC... |
Task1_train_28209 | This is a variant in EEF1A2 (eukaryotic translation elongation factor 1 alpha 2), located on Chromosome 20. Is this mutation a likely cause of disease or not? | Pathogenic; Intellectual disability, autosomal dominant 38 | ACCCCTCCTTTGTCTGAGGACTCCTCCCTGTGAGTGTGGGCGGGGCGACTGACTGCTTCTGCCTGGGGCCTGGTGGCCCTGCTCCCTGCTCCCTGCAGGCCCTGCTCCCTGCTCCCTGCAGGCTCTCTGGGCCCCACTTGGATGCTGCAGGTCTCTATCACTAAAGGGGCCTCTCAGCCAGATGCAGCACAGGCACAGCGGCACATGAGCGTCCCTGGCATTTCTCATGGATCTACTTAAACCAATTGTGCAGCTGCCACATGGGGGTCTTGTCCCCCCCCAGGCTACTGGGTCTCCACCCTCACCTCCCAGGGCTGTGA... | ACCCCTCCTTTGTCTGAGGACTCCTCCCTGTGAGTGTGGGCGGGGCGACTGACTGCTTCTGCCTGGGGCCTGGTGGCCCTGCTCCCTGCTCCCTGCAGGCCCTGCTCCCTGCTCCCTGCAGGCTCTCTGGGCCCCACTTGGATGCTGCAGGTCTCTATCACTAAAGGGGCCTCTCAGCCAGATGCAGCACAGGCACAGCGGCACATGAGCGTCCCTGGCATTTCTCATGGATCTACTTAAACCAATTGTGCAGCTGCCACATGGGGGTCTTGTCCCCCCCCAGGCTACTGGGTCTCCACCCTCACCTCCCAGGGCTGTGA... |
Task1_train_28210 | Consider a variant on Chromosome 20 in gene EEF1A2, LOC132090595 (eukaryotic translation elongation factor 1 alpha 2| Neanderthal introgressed variant-containing enhancer experimental_60987). Determine its clinical classification and disease relevance. | Pathogenic; Inborn genetic diseases | AGGATGGATGGGTGGGGAGGTGGGTGGATGGATGGATGGATGTGGGATGGACTGTCCCACAGAAAGTGTGTGGTAAGGGGAGAGATTGGAGACAGCCCAGTCTTGAGATGCCTTGTAGGGGCCCCTGGTCTAGGGCAGGCAGAGCTGGCCAGGCAGGAGCTCCAGCACAGCGCCCTTGCTCACCGCCAATCTTGTACACGTCCTGCAGCGGCAGGCGCAGGGGCTTGTCCGTGGGGCGCGTGGGGGGCAGGATGGTGTCCAGGGCCTCCAGCAGGGACACGCCGCTTGCGTTGCCCTCCTTACGCTCCACCTTCCAGCCC... | AGGATGGATGGGTGGGGAGGTGGGTGGATGGATGGATGGATGTGGGATGGACTGTCCCACAGAAAGTGTGTGGTAAGGGGAGAGATTGGAGACAGCCCAGTCTTGAGATGCCTTGTAGGGGCCCCTGGTCTAGGGCAGGCAGAGCTGGCCAGGCAGGAGCTCCAGCACAGCGCCCTTGCTCACCGCCAATCTTGTACACGTCCTGCAGCGGCAGGCGCAGGGGCTTGTCCGTGGGGCGCGTGGGGGGCAGGATGGTGTCCAGGGCCTCCAGCAGGGACACGCCGCTTGCGTTGCCCTCCTTACGCTCCACCTTCCAGCCC... |
Task1_train_28211 | This variant impacts the gene EEF1A2 (eukaryotic translation elongation factor 1 alpha 2) on Chromosome 20. Is the change likely to result in a pathogenic outcome? | Pathogenic; Developmental and epileptic encephalopathy, 33 | GGATGGATGTGGGATGGACTGTCCCACAGAAAGTGTGTGGTAAGGGGAGAGATTGGAGACAGCCCAGTCTTGAGATGCCTTGTAGGGGCCCCTGGTCTAGGGCAGGCAGAGCTGGCCAGGCAGGAGCTCCAGCACAGCGCCCTTGCTCACCGCCAATCTTGTACACGTCCTGCAGCGGCAGGCGCAGGGGCTTGTCCGTGGGGCGCGTGGGGGGCAGGATGGTGTCCAGGGCCTCCAGCAGGGACACGCCGCTTGCGTTGCCCTCCTTACGCTCCACCTTCCAGCCCTTGAACCACGGCATCTGGACCAAAGGGAGAAAA... | GGATGGATGTGGGATGGACTGTCCCACAGAAAGTGTGTGGTAAGGGGAGAGATTGGAGACAGCCCAGTCTTGAGATGCCTTGTAGGGGCCCCTGGTCTAGGGCAGGCAGAGCTGGCCAGGCAGGAGCTCCAGCACAGCGCCCTTGCTCACCGCCAATCTTGTACACGTCCTGCAGCGGCAGGCGCAGGGGCTTGTCCGTGGGGCGCGTGGGGGGCAGGATGGTGTCCAGGGCCTCCAGCAGGGACACGCCGCTTGCGTTGCCCTCCTTACGCTCCACCTTCCAGCCCTTGAACCACGGCATCTGGACCAAAGGGAGAAAA... |
Task1_train_28212 | This alteration occurs within gene EEF1A2 (eukaryotic translation elongation factor 1 alpha 2) located on Chromosome 20. Is it associated with a disease or is it a benign variant? | Pathogenic; Developmental and epileptic encephalopathy, 33 | CCCCAGGGCCTGTGTAAGCACGAGCCACCTAGCAGCTCAGGCCAGAGGGGAGTGCAGGGTCCCTGATGGCTGGAGGCCTCCCTGGGGAGGGGAGAGTGGCGTTCGCCACATGATACCCCATGAGGAAAACGCCATCACAGGTAAACAACACCGAGCCTCGTGAGATGGAGGCGGAGCTGGGGGAGTCCCTCCCAGTTCTGTCCCCAGACCTCAGCTCCAGGCTCAGTGCTGCTGGTCTGTCTCCCTGCTGTCTCTAGACTCCACACCTGCACCCTCACTGTGGGCAGCGACAGTGCTGGCAGAGCCTAGTGGTGGCCATT... | CCCCAGGGCCTGTGTAAGCACGAGCCACCTAGCAGCTCAGGCCAGAGGGGAGTGCAGGGTCCCTGATGGCTGGAGGCCTCCCTGGGGAGGGGAGAGTGGCGTTCGCCACATGATACCCCATGAGGAAAACGCCATCACAGGTAAACAACACCGAGCCTCGTGAGATGGAGGCGGAGCTGGGGGAGTCCCTCCCAGTTCTGTCCCCAGACCTCAGCTCCAGGCTCAGTGCTGCTGGTCTGTCTCCCTGCTGTCTCTAGACTCCACACCTGCACCCTCACTGTGGGCAGCGACAGTGCTGGCAGAGCCTAGTGGTGGCCATT... |
Task1_train_28213 | Given this variant in gene EEF1A2 (eukaryotic translation elongation factor 1 alpha 2) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Intellectual disability, autosomal dominant 38 | TGGCTGGAGGCCTCCCTGGGGAGGGGAGAGTGGCGTTCGCCACATGATACCCCATGAGGAAAACGCCATCACAGGTAAACAACACCGAGCCTCGTGAGATGGAGGCGGAGCTGGGGGAGTCCCTCCCAGTTCTGTCCCCAGACCTCAGCTCCAGGCTCAGTGCTGCTGGTCTGTCTCCCTGCTGTCTCTAGACTCCACACCTGCACCCTCACTGTGGGCAGCGACAGTGCTGGCAGAGCCTAGTGGTGGCCATTCTGGGGTCTCCTCTGGCTTGGAGAACCCTGGGAACAGTCTCAGGTTCTGCAAGTGTCTCCACGCGT... | TGGCTGGAGGCCTCCCTGGGGAGGGGAGAGTGGCGTTCGCCACATGATACCCCATGAGGAAAACGCCATCACAGGTAAACAACACCGAGCCTCGTGAGATGGAGGCGGAGCTGGGGGAGTCCCTCCCAGTTCTGTCCCCAGACCTCAGCTCCAGGCTCAGTGCTGCTGGTCTGTCTCCCTGCTGTCTCTAGACTCCACACCTGCACCCTCACTGTGGGCAGCGACAGTGCTGGCAGAGCCTAGTGGTGGCCATTCTGGGGTCTCCTCTGGCTTGGAGAACCCTGGGAACAGTCTCAGGTTCTGCAAGTGTCTCCACGCGT... |
Task1_train_28214 | This sequence change occurs on Chromosome 20, altering EEF1A2 (eukaryotic translation elongation factor 1 alpha 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Developmental and epileptic encephalopathy, 33 | TGGCTGGAGGCCTCCCTGGGGAGGGGAGAGTGGCGTTCGCCACATGATACCCCATGAGGAAAACGCCATCACAGGTAAACAACACCGAGCCTCGTGAGATGGAGGCGGAGCTGGGGGAGTCCCTCCCAGTTCTGTCCCCAGACCTCAGCTCCAGGCTCAGTGCTGCTGGTCTGTCTCCCTGCTGTCTCTAGACTCCACACCTGCACCCTCACTGTGGGCAGCGACAGTGCTGGCAGAGCCTAGTGGTGGCCATTCTGGGGTCTCCTCTGGCTTGGAGAACCCTGGGAACAGTCTCAGGTTCTGCAAGTGTCTCCACGCGT... | TGGCTGGAGGCCTCCCTGGGGAGGGGAGAGTGGCGTTCGCCACATGATACCCCATGAGGAAAACGCCATCACAGGTAAACAACACCGAGCCTCGTGAGATGGAGGCGGAGCTGGGGGAGTCCCTCCCAGTTCTGTCCCCAGACCTCAGCTCCAGGCTCAGTGCTGCTGGTCTGTCTCCCTGCTGTCTCTAGACTCCACACCTGCACCCTCACTGTGGGCAGCGACAGTGCTGGCAGAGCCTAGTGGTGGCCATTCTGGGGTCTCCTCTGGCTTGGAGAACCCTGGGAACAGTCTCAGGTTCTGCAAGTGTCTCCACGCGT... |
Task1_train_28215 | Given a variant located on Chromosome 20 and affecting EEF1A2 (eukaryotic translation elongation factor 1 alpha 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Inborn genetic diseases | TGGCTGGAGGCCTCCCTGGGGAGGGGAGAGTGGCGTTCGCCACATGATACCCCATGAGGAAAACGCCATCACAGGTAAACAACACCGAGCCTCGTGAGATGGAGGCGGAGCTGGGGGAGTCCCTCCCAGTTCTGTCCCCAGACCTCAGCTCCAGGCTCAGTGCTGCTGGTCTGTCTCCCTGCTGTCTCTAGACTCCACACCTGCACCCTCACTGTGGGCAGCGACAGTGCTGGCAGAGCCTAGTGGTGGCCATTCTGGGGTCTCCTCTGGCTTGGAGAACCCTGGGAACAGTCTCAGGTTCTGCAAGTGTCTCCACGCGT... | TGGCTGGAGGCCTCCCTGGGGAGGGGAGAGTGGCGTTCGCCACATGATACCCCATGAGGAAAACGCCATCACAGGTAAACAACACCGAGCCTCGTGAGATGGAGGCGGAGCTGGGGGAGTCCCTCCCAGTTCTGTCCCCAGACCTCAGCTCCAGGCTCAGTGCTGCTGGTCTGTCTCCCTGCTGTCTCTAGACTCCACACCTGCACCCTCACTGTGGGCAGCGACAGTGCTGGCAGAGCCTAGTGGTGGCCATTCTGGGGTCTCCTCTGGCTTGGAGAACCCTGGGAACAGTCTCAGGTTCTGCAAGTGTCTCCACGCGT... |
Task1_train_28216 | This variant affects the gene EEF1A2 (eukaryotic translation elongation factor 1 alpha 2) found on Chromosome 20. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 33 | TGGCTGGAGGCCTCCCTGGGGAGGGGAGAGTGGCGTTCGCCACATGATACCCCATGAGGAAAACGCCATCACAGGTAAACAACACCGAGCCTCGTGAGATGGAGGCGGAGCTGGGGGAGTCCCTCCCAGTTCTGTCCCCAGACCTCAGCTCCAGGCTCAGTGCTGCTGGTCTGTCTCCCTGCTGTCTCTAGACTCCACACCTGCACCCTCACTGTGGGCAGCGACAGTGCTGGCAGAGCCTAGTGGTGGCCATTCTGGGGTCTCCTCTGGCTTGGAGAACCCTGGGAACAGTCTCAGGTTCTGCAAGTGTCTCCACGCGT... | TGGCTGGAGGCCTCCCTGGGGAGGGGAGAGTGGCGTTCGCCACATGATACCCCATGAGGAAAACGCCATCACAGGTAAACAACACCGAGCCTCGTGAGATGGAGGCGGAGCTGGGGGAGTCCCTCCCAGTTCTGTCCCCAGACCTCAGCTCCAGGCTCAGTGCTGCTGGTCTGTCTCCCTGCTGTCTCTAGACTCCACACCTGCACCCTCACTGTGGGCAGCGACAGTGCTGGCAGAGCCTAGTGGTGGCCATTCTGGGGTCTCCTCTGGCTTGGAGAACCCTGGGAACAGTCTCAGGTTCTGCAAGTGTCTCCACGCGT... |
Task1_train_28217 | A variant has been detected on Chromosome 20 in EEF1A2 (eukaryotic translation elongation factor 1 alpha 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy | TGGCTGGAGGCCTCCCTGGGGAGGGGAGAGTGGCGTTCGCCACATGATACCCCATGAGGAAAACGCCATCACAGGTAAACAACACCGAGCCTCGTGAGATGGAGGCGGAGCTGGGGGAGTCCCTCCCAGTTCTGTCCCCAGACCTCAGCTCCAGGCTCAGTGCTGCTGGTCTGTCTCCCTGCTGTCTCTAGACTCCACACCTGCACCCTCACTGTGGGCAGCGACAGTGCTGGCAGAGCCTAGTGGTGGCCATTCTGGGGTCTCCTCTGGCTTGGAGAACCCTGGGAACAGTCTCAGGTTCTGCAAGTGTCTCCACGCGT... | TGGCTGGAGGCCTCCCTGGGGAGGGGAGAGTGGCGTTCGCCACATGATACCCCATGAGGAAAACGCCATCACAGGTAAACAACACCGAGCCTCGTGAGATGGAGGCGGAGCTGGGGGAGTCCCTCCCAGTTCTGTCCCCAGACCTCAGCTCCAGGCTCAGTGCTGCTGGTCTGTCTCCCTGCTGTCTCTAGACTCCACACCTGCACCCTCACTGTGGGCAGCGACAGTGCTGGCAGAGCCTAGTGGTGGCCATTCTGGGGTCTCCTCTGGCTTGGAGAACCCTGGGAACAGTCTCAGGTTCTGCAAGTGTCTCCACGCGT... |
Task1_train_28218 | A genetic alteration is present in EEF1A2 (eukaryotic translation elongation factor 1 alpha 2) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Intellectual disability | TGGCTGGAGGCCTCCCTGGGGAGGGGAGAGTGGCGTTCGCCACATGATACCCCATGAGGAAAACGCCATCACAGGTAAACAACACCGAGCCTCGTGAGATGGAGGCGGAGCTGGGGGAGTCCCTCCCAGTTCTGTCCCCAGACCTCAGCTCCAGGCTCAGTGCTGCTGGTCTGTCTCCCTGCTGTCTCTAGACTCCACACCTGCACCCTCACTGTGGGCAGCGACAGTGCTGGCAGAGCCTAGTGGTGGCCATTCTGGGGTCTCCTCTGGCTTGGAGAACCCTGGGAACAGTCTCAGGTTCTGCAAGTGTCTCCACGCGT... | TGGCTGGAGGCCTCCCTGGGGAGGGGAGAGTGGCGTTCGCCACATGATACCCCATGAGGAAAACGCCATCACAGGTAAACAACACCGAGCCTCGTGAGATGGAGGCGGAGCTGGGGGAGTCCCTCCCAGTTCTGTCCCCAGACCTCAGCTCCAGGCTCAGTGCTGCTGGTCTGTCTCCCTGCTGTCTCTAGACTCCACACCTGCACCCTCACTGTGGGCAGCGACAGTGCTGGCAGAGCCTAGTGGTGGCCATTCTGGGGTCTCCTCTGGCTTGGAGAACCCTGGGAACAGTCTCAGGTTCTGCAAGTGTCTCCACGCGT... |
Task1_train_28219 | The gene EEF1A2 (eukaryotic translation elongation factor 1 alpha 2) on Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Intellectual disability, autosomal dominant 38 | TGGCTGGAGGCCTCCCTGGGGAGGGGAGAGTGGCGTTCGCCACATGATACCCCATGAGGAAAACGCCATCACAGGTAAACAACACCGAGCCTCGTGAGATGGAGGCGGAGCTGGGGGAGTCCCTCCCAGTTCTGTCCCCAGACCTCAGCTCCAGGCTCAGTGCTGCTGGTCTGTCTCCCTGCTGTCTCTAGACTCCACACCTGCACCCTCACTGTGGGCAGCGACAGTGCTGGCAGAGCCTAGTGGTGGCCATTCTGGGGTCTCCTCTGGCTTGGAGAACCCTGGGAACAGTCTCAGGTTCTGCAAGTGTCTCCACGCGT... | TGGCTGGAGGCCTCCCTGGGGAGGGGAGAGTGGCGTTCGCCACATGATACCCCATGAGGAAAACGCCATCACAGGTAAACAACACCGAGCCTCGTGAGATGGAGGCGGAGCTGGGGGAGTCCCTCCCAGTTCTGTCCCCAGACCTCAGCTCCAGGCTCAGTGCTGCTGGTCTGTCTCCCTGCTGTCTCTAGACTCCACACCTGCACCCTCACTGTGGGCAGCGACAGTGCTGGCAGAGCCTAGTGGTGGCCATTCTGGGGTCTCCTCTGGCTTGGAGAACCCTGGGAACAGTCTCAGGTTCTGCAAGTGTCTCCACGCGT... |
Task1_train_28220 | This alteration occurs within gene EEF1A2 (eukaryotic translation elongation factor 1 alpha 2) located on Chromosome 20. Is it associated with a disease or is it a benign variant? | Pathogenic; Developmental and epileptic encephalopathy, 33 | CTGGAGGCCTCCCTGGGGAGGGGAGAGTGGCGTTCGCCACATGATACCCCATGAGGAAAACGCCATCACAGGTAAACAACACCGAGCCTCGTGAGATGGAGGCGGAGCTGGGGGAGTCCCTCCCAGTTCTGTCCCCAGACCTCAGCTCCAGGCTCAGTGCTGCTGGTCTGTCTCCCTGCTGTCTCTAGACTCCACACCTGCACCCTCACTGTGGGCAGCGACAGTGCTGGCAGAGCCTAGTGGTGGCCATTCTGGGGTCTCCTCTGGCTTGGAGAACCCTGGGAACAGTCTCAGGTTCTGCAAGTGTCTCCACGCGTCAC... | CTGGAGGCCTCCCTGGGGAGGGGAGAGTGGCGTTCGCCACATGATACCCCATGAGGAAAACGCCATCACAGGTAAACAACACCGAGCCTCGTGAGATGGAGGCGGAGCTGGGGGAGTCCCTCCCAGTTCTGTCCCCAGACCTCAGCTCCAGGCTCAGTGCTGCTGGTCTGTCTCCCTGCTGTCTCTAGACTCCACACCTGCACCCTCACTGTGGGCAGCGACAGTGCTGGCAGAGCCTAGTGGTGGCCATTCTGGGGTCTCCTCTGGCTTGGAGAACCCTGGGAACAGTCTCAGGTTCTGCAAGTGTCTCCACGCGTCAC... |
Task1_train_28221 | This gene mutation involves RTEL1, RTEL1-TNFRSF6B (regulator of telomere elongation helicase 1| RTEL1-TNFRSF6B readthrough (NMD candidate)) on Chromosome 20. Is it associated with any clinical condition, or is it benign? | Pathogenic; Dyskeratosis congenita, X-linked | AGGTGGAGGGCAGCCCTTGTTCCCCGGCAGGGCTGGGGGCCTTACAGTCCTATAAGGTGGGGGCCACCTCCAGGAGGCAGGTGGGGCTGGGGGTCTTCTGGTCCTAAAAGGTAAGGGGCTGCCCCCAGGACATGGGCGGGGCCTCCACACTCCTGGTCCTGTCCCCTCCAGGTGCACATCCATCCTGATGCTGGTCACCGGAGGACGGCTCAGCGGTCTGATGCCTGGAGCACCACTGCAGCCAGAAAGCGAGGTACAGACCTGGGCCCACACGCTCCCCGCCCGCCCGGGTGCAGTGCCCGGCACCACCATGCCACAGG... | AGGTGGAGGGCAGCCCTTGTTCCCCGGCAGGGCTGGGGGCCTTACAGTCCTATAAGGTGGGGGCCACCTCCAGGAGGCAGGTGGGGCTGGGGGTCTTCTGGTCCTAAAAGGTAAGGGGCTGCCCCCAGGACATGGGCGGGGCCTCCACACTCCTGGTCCTGTCCCCTCCAGGTGCACATCCATCCTGATGCTGGTCACCGGAGGACGGCTCAGCGGTCTGATGCCTGGAGCACCACTGCAGCCAGAAAGCGAGGTACAGACCTGGGCCCACACGCTCCCCGCCCGCCCGGGTGCAGTGCCCGGCACCACCATGCCACAGG... |
Task1_train_28222 | Here is a variant affecting RTEL1, RTEL1-TNFRSF6B (regulator of telomere elongation helicase 1| RTEL1-TNFRSF6B readthrough (NMD candidate)) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Interstitial lung disease 2 | CAGCCGTGGATCTCCTGCCCCCATGGGCCTGGCCACCTTCTCCATATCCAGGCCAATCCAGAGCATTCTCCTCACTGTCCCTCTGAAGATTGGAGTTACTGAGAGACGTAGGAGATGGCCTGATGGCACCGTGACCTGCCCAGAGTCACCTGGTTGGTGGTGGCAGAGCCACAGCCCAGCCAGGCCTCCCTGCTGGGACACGCTCGTTTATGCCGAGGCCGTCAGCACAGAGCCTCCACAGTGAGGCACGGCTCTGCCTGCTGCCTCCACGCAGCGCCTGGCCGGGCCAAGCCTCAGGGTCACATCTGAAGGGGGCCCGG... | CAGCCGTGGATCTCCTGCCCCCATGGGCCTGGCCACCTTCTCCATATCCAGGCCAATCCAGAGCATTCTCCTCACTGTCCCTCTGAAGATTGGAGTTACTGAGAGACGTAGGAGATGGCCTGATGGCACCGTGACCTGCCCAGAGTCACCTGGTTGGTGGTGGCAGAGCCACAGCCCAGCCAGGCCTCCCTGCTGGGACACGCTCGTTTATGCCGAGGCCGTCAGCACAGAGCCTCCACAGTGAGGCACGGCTCTGCCTGCTGCCTCCACGCAGCGCCTGGCCGGGCCAAGCCTCAGGGTCACATCTGAAGGGGGCCCGG... |
Task1_train_28223 | This variant impacts the gene RTEL1, RTEL1-TNFRSF6B (regulator of telomere elongation helicase 1| RTEL1-TNFRSF6B readthrough (NMD candidate)) on Chromosome 20. Is the change likely to result in a pathogenic outcome? | Pathogenic; Dyskeratosis congenita, autosomal recessive 5 | CAGTGGGGCCTTGCCTCTGGGCTTGGTTCGTCCCTCTCTGGAACATTCTTTCTCAGCTGCTGTCCGACCCATGGTGGCATGACGTGGCCCTGGCTGAAGCAGCCCTTGTGCGGTTGCTGTGGTTGGGTCTGCCTGGCCGAGCCGGAAGGGAAGGGCTGGGAGGGCGTCAGGGTGGCGTGGCTTGACCCCCGCTCGGTGATGGTCCTGCAGCAAGGCCTCTCCCAGCAGGAAGCGTCCATCCCGGGGGGAGGCCGGCGCCCCTCACGCAGTTGGGGTTGCGGGAGGCAGTGCGTGCCTGAGGCAGCCGGTGCACAGATTCC... | CAGTGGGGCCTTGCCTCTGGGCTTGGTTCGTCCCTCTCTGGAACATTCTTTCTCAGCTGCTGTCCGACCCATGGTGGCATGACGTGGCCCTGGCTGAAGCAGCCCTTGTGCGGTTGCTGTGGTTGGGTCTGCCTGGCCGAGCCGGAAGGGAAGGGCTGGGAGGGCGTCAGGGTGGCGTGGCTTGACCCCCGCTCGGTGATGGTCCTGCAGCAAGGCCTCTCCCAGCAGGAAGCGTCCATCCCGGGGGGAGGCCGGCGCCCCTCACGCAGTTGGGGTTGCGGGAGGCAGTGCGTGCCTGAGGCAGCCGGTGCACAGATTCC... |
Task1_train_28224 | Mutation context: Chromosome 20, Gene RTEL1, RTEL1-TNFRSF6B (regulator of telomere elongation helicase 1| RTEL1-TNFRSF6B readthrough (NMD candidate)). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Dyskeratosis congenita, autosomal dominant 4 | AATTCCCGGCATCCGGCATCCAGACTCAGCCTCCTCCCCAGGCCACGGCCGCCGTGGCCAGTCGGTCAAGCCCTTCTAGGAACTTCCTTTGAGCTGGCGCCCTTGTTCACTGCTGACGCCACTCAGAGGCTTGTGCACGTGTCCTGCTTCCAGGCAGAGCTGGGAACTCGCACCCCGTCTTCTGCACGCGGCCGTGGAATGTCGGGATGCCGGCGCTTCCTTCCCGTGTGCTCTTGGCGGGGTGGGCTTCTTGCCCTGAGCCGCATGTCACAGTTTCTGCAGAAGTTTAGGGTTGGAGTGGGCTGACCTCTCTGCAGGTG... | AATTCCCGGCATCCGGCATCCAGACTCAGCCTCCTCCCCAGGCCACGGCCGCCGTGGCCAGTCGGTCAAGCCCTTCTAGGAACTTCCTTTGAGCTGGCGCCCTTGTTCACTGCTGACGCCACTCAGAGGCTTGTGCACGTGTCCTGCTTCCAGGCAGAGCTGGGAACTCGCACCCCGTCTTCTGCACGCGGCCGTGGAATGTCGGGATGCCGGCGCTTCCTTCCCGTGTGCTCTTGGCGGGGTGGGCTTCTTGCCCTGAGCCGCATGTCACAGTTTCTGCAGAAGTTTAGGGTTGGAGTGGGCTGACCTCTCTGCAGGTG... |
Task1_train_28225 | This variant lies on Chromosome 20 and affects the gene RTEL1, RTEL1-TNFRSF6B (regulator of telomere elongation helicase 1| RTEL1-TNFRSF6B readthrough (NMD candidate)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Dyskeratosis congenita, autosomal recessive 5 | ACGGGCCACCCCTGCCAGGGCCTGAGCACCGGTGACACCTCTGACATCAGCGGGGTGGAAGTGGTGGGGGTCCCCATGAGCCGGGTGCTGGGGGTCTCGGGCCTCGAGGGCTAAAGGGGTGCTGGTGCACTTCCCCACTGTCTGCTCCCTCTGGCCACGCTCAGCCCTTTCCCAGTCTGCCTGGAGAACCCACACATCATCGACAAGCACCAGATCTGGGTGGGGGTCGTCCCCAGAGGCCCCGATGGAGCCCAGTTGAGCTCCGCGTTTGACAGACGGTGAGGGCCTGTCCCTGGGCCCTGCTGGGGTGGGAGGTGGGG... | ACGGGCCACCCCTGCCAGGGCCTGAGCACCGGTGACACCTCTGACATCAGCGGGGTGGAAGTGGTGGGGGTCCCCATGAGCCGGGTGCTGGGGGTCTCGGGCCTCGAGGGCTAAAGGGGTGCTGGTGCACTTCCCCACTGTCTGCTCCCTCTGGCCACGCTCAGCCCTTTCCCAGTCTGCCTGGAGAACCCACACATCATCGACAAGCACCAGATCTGGGTGGGGGTCGTCCCCAGAGGCCCCGATGGAGCCCAGTTGAGCTCCGCGTTTGACAGACGGTGAGGGCCTGTCCCTGGGCCCTGCTGGGGTGGGAGGTGGGG... |
Task1_train_28226 | A mutation found in DNAJC5 (DnaJ heat shock protein family (Hsp40) member C5) on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | ATTGAGCTTGAAGAACTGCACTCTTGGGTACAGTTTCATTGAGTAACCTGTAAGAGACACCATCACTAATCCAGACAATTCAGATAGTCCTCCTCTCGTGTGCTAGCATCGTGTAGTTCATAAAACACTTCTTAAAGTGCCATCATTACGCCCCGCCGTGCTTACCGTTCACTTGGCACTTGTGCAGTTAGCGGCTGGGACACCAGGGCTGGCCTTGGTGCCGCTGAACTTAGATGTGCCGTGGCACTCACAGCCCTTGGGGCTCCCTCCTCTGAGGCTGGGTCAGGGTGAGGAGGTTTACCTGAAACAACCGCGGAGCT... | ATTGAGCTTGAAGAACTGCACTCTTGGGTACAGTTTCATTGAGTAACCTGTAAGAGACACCATCACTAATCCAGACAATTCAGATAGTCCTCCTCTCGTGTGCTAGCATCGTGTAGTTCATAAAACACTTCTTAAAGTGCCATCATTACGCCCCGCCGTGCTTACCGTTCACTTGGCACTTGTGCAGTTAGCGGCTGGGACACCAGGGCTGGCCTTGGTGCCGCTGAACTTAGATGTGCCGTGGCACTCACAGCCCTTGGGGCTCCCTCCTCTGAGGCTGGGTCAGGGTGAGGAGGTTTACCTGAAACAACCGCGGAGCT... |
Task1_train_28227 | A genetic alteration is present in DNAJC5 (DnaJ heat shock protein family (Hsp40) member C5) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | GAGCTTGAAGAACTGCACTCTTGGGTACAGTTTCATTGAGTAACCTGTAAGAGACACCATCACTAATCCAGACAATTCAGATAGTCCTCCTCTCGTGTGCTAGCATCGTGTAGTTCATAAAACACTTCTTAAAGTGCCATCATTACGCCCCGCCGTGCTTACCGTTCACTTGGCACTTGTGCAGTTAGCGGCTGGGACACCAGGGCTGGCCTTGGTGCCGCTGAACTTAGATGTGCCGTGGCACTCACAGCCCTTGGGGCTCCCTCCTCTGAGGCTGGGTCAGGGTGAGGAGGTTTACCTGAAACAACCGCGGAGCTTGC... | GAGCTTGAAGAACTGCACTCTTGGGTACAGTTTCATTGAGTAACCTGTAAGAGACACCATCACTAATCCAGACAATTCAGATAGTCCTCCTCTCGTGTGCTAGCATCGTGTAGTTCATAAAACACTTCTTAAAGTGCCATCATTACGCCCCGCCGTGCTTACCGTTCACTTGGCACTTGTGCAGTTAGCGGCTGGGACACCAGGGCTGGCCTTGGTGCCGCTGAACTTAGATGTGCCGTGGCACTCACAGCCCTTGGGGCTCCCTCCTCTGAGGCTGGGTCAGGGTGAGGAGGTTTACCTGAAACAACCGCGGAGCTTGC... |
Task1_train_28228 | Consider a variant on Chromosome 20 in gene SOX18 (SRY-box transcription factor 18). Determine its clinical classification and disease relevance. | Pathogenic; Hypotrichosis-lymphedema-telangiectasia syndrome | CCTGGGGTGAGTTAGAACAGCTGACGGAGACCCTGGAGTCTGTGTCTGCATGTGGGCTGCCAACCTGCCAGCCTCCCTCAGGAAAGGGGGCCGTACTGGGCAGTCCTTGGGCATGGAAGTTTTAAGGTGGAGGCAAGGGCGATGAAACCCTAGCGGGGGTGTGACAGGATTGCTGGTATAGTCTGACCTCCGATAGGCTTGAGTTAACCTGGGGGTGGGACAGGAGGGGAGTGGAGGGCTGGGGGGGAGTGTGGACCCATGCCTGCTACCCACGCTCTCTGGGATGTGTCACGGAAGGATGAAGGAGTGCTATGAGGTTC... | CCTGGGGTGAGTTAGAACAGCTGACGGAGACCCTGGAGTCTGTGTCTGCATGTGGGCTGCCAACCTGCCAGCCTCCCTCAGGAAAGGGGGCCGTACTGGGCAGTCCTTGGGCATGGAAGTTTTAAGGTGGAGGCAAGGGCGATGAAACCCTAGCGGGGGTGTGACAGGATTGCTGGTATAGTCTGACCTCCGATAGGCTTGAGTTAACCTGGGGGTGGGACAGGAGGGGAGTGGAGGGCTGGGGGGGAGTGTGGACCCATGCCTGCTACCCACGCTCTCTGGGATGTGTCACGGAAGGATGAAGGAGTGCTATGAGGTTC... |
Task1_train_28229 | A genetic alteration is present in SOX18 (SRY-box transcription factor 18) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hypotrichosis-lymphedema-telangiectasia syndrome | AGACCCTGGAGTCTGTGTCTGCATGTGGGCTGCCAACCTGCCAGCCTCCCTCAGGAAAGGGGGCCGTACTGGGCAGTCCTTGGGCATGGAAGTTTTAAGGTGGAGGCAAGGGCGATGAAACCCTAGCGGGGGTGTGACAGGATTGCTGGTATAGTCTGACCTCCGATAGGCTTGAGTTAACCTGGGGGTGGGACAGGAGGGGAGTGGAGGGCTGGGGGGGAGTGTGGACCCATGCCTGCTACCCACGCTCTCTGGGATGTGTCACGGAAGGATGAAGGAGTGCTATGAGGTTCAAGCTAGGAGTCAGGCTCCCTGGGGGC... | AGACCCTGGAGTCTGTGTCTGCATGTGGGCTGCCAACCTGCCAGCCTCCCTCAGGAAAGGGGGCCGTACTGGGCAGTCCTTGGGCATGGAAGTTTTAAGGTGGAGGCAAGGGCGATGAAACCCTAGCGGGGGTGTGACAGGATTGCTGGTATAGTCTGACCTCCGATAGGCTTGAGTTAACCTGGGGGTGGGACAGGAGGGGAGTGGAGGGCTGGGGGGGAGTGTGGACCCATGCCTGCTACCCACGCTCTCTGGGATGTGTCACGGAAGGATGAAGGAGTGCTATGAGGTTCAAGCTAGGAGTCAGGCTCCCTGGGGGC... |
Task1_train_28230 | Located on Chromosome 21, this mutation impacts LOC102724428 (salt inducible kinase 1B (putative)). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Self-limited epilepsy with centrotemporal spikes | TTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATAGTCTGGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACCGCGCCCGGCCACTAGTGTCTAATTTTCATTCCGCTGGCCGGGGCCCCAGAACCCTGCTGAGACACTTCCCTCTTTTTTTCAAGTTTTCAAAAAGTTCAAACACTTTGACTTTTAATTCTTTTCCTCCTCCTCCCTTTCTTCAGTTGGGGACGGGTCAGCAGTGGTCTTAGAGTTATTGTACCACCCACAGGGGCGGGGCAGTTAAAA... | TTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATAGTCTGGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACCGCGCCCGGCCACTAGTGTCTAATTTTCATTCCGCTGGCCGGGGCCCCAGAACCCTGCTGAGACACTTCCCTCTTTTTTTCAAGTTTTCAAAAAGTTCAAACACTTTGACTTTTAATTCTTTTCCTCCTCCTCCCTTTCTTCAGTTGGGGACGGGTCAGCAGTGGTCTTAGAGTTATTGTACCACCCACAGGGGCGGGGCAGTTAAAA... |
Task1_train_28231 | This sequence change occurs on Chromosome 21, altering JAM2 (junctional adhesion molecule 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Basal ganglia calcification, idiopathic, 8, autosomal recessive | AAGCCCTGGCCCCACTCCCAACAAAAGGAACAGCCCCTTATCATGGACCTTGGACAAGCCATTTAGTGTCTCTCCGCCCAGTTTTCTCATCTGCAAAGTGGGAATGATAACATTTCCTCTTTTATGGAGTTGTTGGGGGATTAGATATTGCGTTATTCAGACTCCATCACTGAGAAAGCATGCAATAAAAATAGCTGTTATTATTTTCTGTCCTCCTGTAACATTTACCATGTGGTATCAGGCATCTTTCCTGATAAGACTCTGTCTCCCCTCAAGACTGTGAGCTTGTTAGCAAGAAAGCCTCTATCTTGTTCATGGTT... | AAGCCCTGGCCCCACTCCCAACAAAAGGAACAGCCCCTTATCATGGACCTTGGACAAGCCATTTAGTGTCTCTCCGCCCAGTTTTCTCATCTGCAAAGTGGGAATGATAACATTTCCTCTTTTATGGAGTTGTTGGGGGATTAGATATTGCGTTATTCAGACTCCATCACTGAGAAAGCATGCAATAAAAATAGCTGTTATTATTTTCTGTCCTCCTGTAACATTTACCATGTGGTATCAGGCATCTTTCCTGATAAGACTCTGTCTCCCCTCAAGACTGTGAGCTTGTTAGCAAGAAAGCCTCTATCTTGTTCATGGTT... |
Task1_train_28232 | This variant affects the gene JAM2 (junctional adhesion molecule 2) found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Basal ganglia calcification, idiopathic, 8, autosomal recessive | GGAAGCCAAGGCATGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTAAAAATACGAAAATTAGCCAGTGTGGTGGTGCATATCTGTAATCCCAGATGCTTGGGAGGCTGAGGCATGAGAATGGCTTGCAGTAAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAATTTACATACATAATGTGGAAGGGCCTCAGTGGCCAGGCCTGCTGGCAGCTGCTCCTCACAGGGCCCATGCTAGAGCTGACAGCCTG... | GGAAGCCAAGGCATGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTAAAAATACGAAAATTAGCCAGTGTGGTGGTGCATATCTGTAATCCCAGATGCTTGGGAGGCTGAGGCATGAGAATGGCTTGCAGTAAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAATTTACATACATAATGTGGAAGGGCCTCAGTGGCCAGGCCTGCTGGCAGCTGCTCCTCACAGGGCCCATGCTAGAGCTGACAGCCTG... |
Task1_train_28233 | A change on Chromosome 21 affects gene JAM2 (junctional adhesion molecule 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Basal ganglia calcification, idiopathic, 8, autosomal recessive | AGGACCGAGAGGTCTCTGTTCCATGCTGGCTATCAGTTCGTGGGCCACACTCAACTCCTAGAGGCCACCACATTCCCTGTTACATGGTCCCTTCCATCTTCAATGAAAGAAAAGCATATCAAATTCTTGTACTTCATTTTTGTTGTTGTTTTGAGACAAAATTTTGCTCTGTCTTCCAGATCACGGCTTACTACAACCTCAAACTCCTTGGCTTAAGTGATTCTCCCATCTCAGCCTCCCATCTCAGCTGAGACAACAGGCACACACCTATTTTTTTTTTTTTTTTTTGTAGAGACATGATCTCACTATGTTTCCCAGGC... | AGGACCGAGAGGTCTCTGTTCCATGCTGGCTATCAGTTCGTGGGCCACACTCAACTCCTAGAGGCCACCACATTCCCTGTTACATGGTCCCTTCCATCTTCAATGAAAGAAAAGCATATCAAATTCTTGTACTTCATTTTTGTTGTTGTTTTGAGACAAAATTTTGCTCTGTCTTCCAGATCACGGCTTACTACAACCTCAAACTCCTTGGCTTAAGTGATTCTCCCATCTCAGCCTCCCATCTCAGCTGAGACAACAGGCACACACCTATTTTTTTTTTTTTTTTTTGTAGAGACATGATCTCACTATGTTTCCCAGGC... |
Task1_train_28234 | A genetic alteration is present in APP (amyloid beta precursor protein) on Chromosome 21. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | GGAGGCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTG... | GGAGGCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTG... |
Task1_train_28235 | The following genetic variant occurs in APP (amyloid beta precursor protein) on Chromosome 21. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Alzheimer disease type 1 | GAGGCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGA... | GAGGCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGA... |
Task1_train_28236 | This alteration in APP (amyloid beta precursor protein) on Chromosome 21 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Alzheimer disease | GAGGCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGA... | GAGGCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGA... |
Task1_train_28237 | Given a variant located on Chromosome 21 and affecting APP (amyloid beta precursor protein), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | GAGGCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGA... | GAGGCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGA... |
Task1_train_28238 | A sequence alteration has been identified in APP (amyloid beta precursor protein) on Chromosome 21. Is it disease-inducing or harmless? | Pathogenic; Cerebral amyloid angiopathy, APP-related | GAGGCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGA... | GAGGCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGA... |
Task1_train_28239 | Here’s a variant in APP (amyloid beta precursor protein) located on Chromosome 21. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Alzheimer disease type 1 | GAGGCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGA... | GAGGCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGA... |
Task1_train_28240 | A genomic change on Chromosome 21 affects APP (amyloid beta precursor protein). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cerebral amyloid angiopathy, APP-related | GAGGCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGA... | GAGGCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGA... |
Task1_train_28241 | This alteration in APP (amyloid beta precursor protein) on Chromosome 21 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Alzheimer disease type 1 | GAGGCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGA... | GAGGCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGA... |
Task1_train_28242 | Here is a mutation in APP (amyloid beta precursor protein) on Chromosome 21. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Alzheimer disease | GAGGCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGA... | GAGGCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGA... |
Task1_train_28243 | Consider this mutation in APP (amyloid beta precursor protein) on Chromosome 21. Is this a benign change or a disease-causing variant? | Pathogenic; Alzheimer disease | GCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGG... | GCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGG... |
Task1_train_28244 | The following genetic variant occurs in APP (amyloid beta precursor protein) on Chromosome 21. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | GCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGG... | GCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGG... |
Task1_train_28245 | This variant affects the gene APP (amyloid beta precursor protein) found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Alzheimer disease | GAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATA... | GAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATA... |
Task1_train_28246 | Mutation context: Chromosome 21, Gene APP (amyloid beta precursor protein). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Alzheimer disease | AGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAA... | AGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAA... |
Task1_train_28247 | A variant has been detected on Chromosome 21 in APP (amyloid beta precursor protein). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Alzheimer disease type 1 | AGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAA... | AGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAA... |
Task1_train_28248 | This variant affects the gene APP (amyloid beta precursor protein) found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Cerebral amyloid angiopathy, APP-related | GGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAA... | GGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAA... |
Task1_train_28249 | Consider a variant on Chromosome 21 in gene APP (amyloid beta precursor protein). Determine its clinical classification and disease relevance. | Pathogenic; Alzheimer disease | CCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAATGGCCAAACATGACAGTGGGGTCATTGCTTTTA... | CCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAATGGCCAAACATGACAGTGGGGTCATTGCTTTTA... |
Task1_train_28250 | This variant affects the gene APP (amyloid beta precursor protein) found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; ABeta amyloidosis, Arctic type | ACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAATGGCCAAACATGACAGTGGGGTCATTGCTTTTATG... | ACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAATGGCCAAACATGACAGTGGGGTCATTGCTTTTATG... |
Task1_train_28251 | Located on Chromosome 21, this mutation impacts APP (amyloid beta precursor protein). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Alzheimer disease type 1 | ACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAATGGCCAAACATGACAGTGGGGTCATTGCTTTTATG... | ACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAATGGCCAAACATGACAGTGGGGTCATTGCTTTTATG... |
Task1_train_28252 | Mutation context: Chromosome 21, Gene APP (amyloid beta precursor protein). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cerebral amyloid angiopathy, APP-related | CTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAATGGCCAAACATGACAGTGGGGTCATTGCTTTTATGT... | CTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAATGGCCAAACATGACAGTGGGGTCATTGCTTTTATGT... |
Task1_train_28253 | An alteration has been detected in APP (amyloid beta precursor protein) on Chromosome 21. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Alzheimer disease | CTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAATGGCCAAACATGACAGTGGGGTCATTGCTTTTATGT... | CTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAATGGCCAAACATGACAGTGGGGTCATTGCTTTTATGT... |
Task1_train_28254 | This gene mutation involves APP (amyloid beta precursor protein) on Chromosome 21. Is it associated with any clinical condition, or is it benign? | Pathogenic; ABeta amyloidosis, Italian type | CTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAATGGCCAAACATGACAGTGGGGTCATTGCTTTTATGT... | CTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAATGGCCAAACATGACAGTGGGGTCATTGCTTTTATGT... |
Task1_train_28255 | A variant affecting Chromosome 21, within the gene APP (amyloid beta precursor protein), has been observed. Determine if it's benign or associated with disease. | Pathogenic; ABetaA21G amyloidosis | GCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAATGGCCAAACATGACAGTGGGGTCATTGCTTTTATGTGC... | GCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAATGGCCAAACATGACAGTGGGGTCATTGCTTTTATGTGC... |
Task1_train_28256 | Located on Chromosome 21, this mutation impacts APP (amyloid beta precursor protein). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Alzheimer disease type 1 | GCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAATGGCCAAACATGACAGTGGGGTCATTGCTTTTATGTGC... | GCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAATGGCCAAACATGACAGTGGGGTCATTGCTTTTATGTGC... |
Task1_train_28257 | A variant affecting Chromosome 21, within the gene APP (amyloid beta precursor protein), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Alzheimer disease | CCTAAAAAATTCTTTCAATTTAGCCTCAAGGTAGTCAAATGACTGATTTTTCTAAGCTGAAACTAACATACTAGCAATCTGGAAAGGCAATATAAAATATAGCAAATGAAGCAACTTCTAAAAGTGTTTTACTCGTGGTTTATAACAAAATGAGAAATTGTTCATAATTATTCCCTTTACTAAACAAATATGCTAGCTCAACATTTTTATGAAAAGCAAATCATTAATTAGCTAATATACTAGTGTGAGGTAATCAGGAATAAATACAAGTCTGGACATATGCCTGTGCCTTTAAGAAAATACTGTAATTTTGTAATATT... | CCTAAAAAATTCTTTCAATTTAGCCTCAAGGTAGTCAAATGACTGATTTTTCTAAGCTGAAACTAACATACTAGCAATCTGGAAAGGCAATATAAAATATAGCAAATGAAGCAACTTCTAAAAGTGTTTTACTCGTGGTTTATAACAAAATGAGAAATTGTTCATAATTATTCCCTTTACTAAACAAATATGCTAGCTCAACATTTTTATGAAAAGCAAATCATTAATTAGCTAATATACTAGTGTGAGGTAATCAGGAATAAATACAAGTCTGGACATATGCCTGTGCCTTTAAGAAAATACTGTAATTTTGTAATATT... |
Task1_train_28258 | Here is a variant affecting TIAM1 (TIAM Rac1 associated GEF 1) on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Neurodevelopmental disorder with language delay and seizures | ACGTTCCATTCATAGACCTAAAAACATAAAAATAGACCTTCTTTCAGCTTATAAAAGAAATATATAAGAACTTTTGACATAGACACGTCATGACCTTATGTACAAGAGACAATGGCACCCTCTCCAAGCACCAGACTTCCGAGTGTTTTCAGATGGATGTGTTGCACTGGAGCCAGTAAATGCGACGATTAGAAGCCTCTGCTTCCGTTTTCCATCTGGACGCGATCGAACCGGAGATGATATGGAAAAATGCAGTGATACAAAGGGTATAGAAACCATTCTAAAGCTTTTTCAGAAAACCAGAAGATATAGCAAAAATT... | ACGTTCCATTCATAGACCTAAAAACATAAAAATAGACCTTCTTTCAGCTTATAAAAGAAATATATAAGAACTTTTGACATAGACACGTCATGACCTTATGTACAAGAGACAATGGCACCCTCTCCAAGCACCAGACTTCCGAGTGTTTTCAGATGGATGTGTTGCACTGGAGCCAGTAAATGCGACGATTAGAAGCCTCTGCTTCCGTTTTCCATCTGGACGCGATCGAACCGGAGATGATATGGAAAAATGCAGTGATACAAAGGGTATAGAAACCATTCTAAAGCTTTTTCAGAAAACCAGAAGATATAGCAAAAATT... |
Task1_train_28259 | A change on Chromosome 21 affects gene TIAM1 (TIAM Rac1 associated GEF 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Neurodevelopmental disorder with language delay and seizures | AATCTATCTGCAAAAAATTGTACAAACTTTCCAAACTAAAATAAAAACCTAGAAATTCCACGTTGTGATTCTCAAATCCACTAGAGTGGATTTCATAATGAAAGACATCTTGACTAGCCTTTATAACTCAACTAAAATAAGCTTTTATCTTGATGGTTTTAAACTTGACTTGAATGAAAAATAGAGAGTGAGAATGGAATGTCGTATTACAAAGATGGCTTTGTCTTCAAAATTTGAAGTTTTTATGTGTTTACTCCTCAACGCAGGCGAAATTCCTGGCTTAGAAGCTGTCAGTTTGCTACAGAAATAAACTTTCCCAT... | AATCTATCTGCAAAAAATTGTACAAACTTTCCAAACTAAAATAAAAACCTAGAAATTCCACGTTGTGATTCTCAAATCCACTAGAGTGGATTTCATAATGAAAGACATCTTGACTAGCCTTTATAACTCAACTAAAATAAGCTTTTATCTTGATGGTTTTAAACTTGACTTGAATGAAAAATAGAGAGTGAGAATGGAATGTCGTATTACAAAGATGGCTTTGTCTTCAAAATTTGAAGTTTTTATGTGTTTACTCCTCAACGCAGGCGAAATTCCTGGCTTAGAAGCTGTCAGTTTGCTACAGAAATAAACTTTCCCAT... |
Task1_train_28260 | Mutation context: Chromosome 21, Gene TIAM1 (TIAM Rac1 associated GEF 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Neurodevelopmental disorder with language delay and seizures | CATAGTAAGACCCTGTCTCAACAAAAAATAAAAACATTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGGATCACTTGAGCCCAGGAATTTGTGGCTGCAGTGAGCTGTAACTGTGCCACTGCATTCCAGCCTGGAAGACAGAGTGAGACCCTGTCTCAAACAGAAAAAAAAAAAAAAAAAAAAGAAAAAGATAATGCTGTAGGAATAGCTGAGCAACAAAACTTCAGAAGGAGCCAGGGCCTCTGAGTGACTTCATAGAAAAGAGTTATCACACAAGCCTTAAATCATCTAT... | CATAGTAAGACCCTGTCTCAACAAAAAATAAAAACATTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGGATCACTTGAGCCCAGGAATTTGTGGCTGCAGTGAGCTGTAACTGTGCCACTGCATTCCAGCCTGGAAGACAGAGTGAGACCCTGTCTCAAACAGAAAAAAAAAAAAAAAAAAAAGAAAAAGATAATGCTGTAGGAATAGCTGAGCAACAAAACTTCAGAAGGAGCCAGGGCCTCTGAGTGACTTCATAGAAAAGAGTTATCACACAAGCCTTAAATCATCTAT... |
Task1_train_28261 | Located on Chromosome 21, this mutation impacts TIAM1 (TIAM Rac1 associated GEF 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Neurodevelopmental disorder with language delay and seizures | GAAGACAGAGTGAGACCCTGTCTCAAACAGAAAAAAAAAAAAAAAAAAAAGAAAAAGATAATGCTGTAGGAATAGCTGAGCAACAAAACTTCAGAAGGAGCCAGGGCCTCTGAGTGACTTCATAGAAAAGAGTTATCACACAAGCCTTAAATCATCTATTTTTGATAGGTGGGAGGGAAATAAAGTTCTGTCTTGCTTATGGCATTGGGATTGGCATTGCTGGTCTCTGGCACATGCAGCAAAACCTATATCCTGACCAATACCCTCCCTTCCTGTGTCATCAGGCATCTGAGCAACAGCTGGCACCAAGAATAATGGGG... | GAAGACAGAGTGAGACCCTGTCTCAAACAGAAAAAAAAAAAAAAAAAAAAGAAAAAGATAATGCTGTAGGAATAGCTGAGCAACAAAACTTCAGAAGGAGCCAGGGCCTCTGAGTGACTTCATAGAAAAGAGTTATCACACAAGCCTTAAATCATCTATTTTTGATAGGTGGGAGGGAAATAAAGTTCTGTCTTGCTTATGGCATTGGGATTGGCATTGCTGGTCTCTGGCACATGCAGCAAAACCTATATCCTGACCAATACCCTCCCTTCCTGTGTCATCAGGCATCTGAGCAACAGCTGGCACCAAGAATAATGGGG... |
Task1_train_28262 | Gene SOD1, SOD1-DT (superoxide dismutase 1| SOD1 divergent transcript), found on Chromosome 21, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Amyotrophic lateral sclerosis type 1 | TATCCCAGCCTGGCAGGGAGGGACAGGGTATTACTGGCATCTAGTGAGTAGGGGCTAGGGATTCTACTGAACATCCTACAGTGTACAGGACAGCCTCCACAGCAAAGAACTGTCTGGCCCAAAATGTCCATAGTGCCCACATTCGATGCCCTGCATTAGGAAGATATAAATACTCTTAAATATCACAGAGTTAAATTCCTTACCCCTGTTCTAGCAGAGATGATATTCTTGCGGGGGGAGCATCTTCTTGGCTTCAACACATTCTTTTCTCCATGGGAGATGATGCCAGAAGAGGGACAGAACAGGGCCCAGTAAAGCAT... | TATCCCAGCCTGGCAGGGAGGGACAGGGTATTACTGGCATCTAGTGAGTAGGGGCTAGGGATTCTACTGAACATCCTACAGTGTACAGGACAGCCTCCACAGCAAAGAACTGTCTGGCCCAAAATGTCCATAGTGCCCACATTCGATGCCCTGCATTAGGAAGATATAAATACTCTTAAATATCACAGAGTTAAATTCCTTACCCCTGTTCTAGCAGAGATGATATTCTTGCGGGGGGAGCATCTTCTTGGCTTCAACACATTCTTTTCTCCATGGGAGATGATGCCAGAAGAGGGACAGAACAGGGCCCAGTAAAGCAT... |
Task1_train_28263 | This genomic variant is located on Chromosome 21, within the SOD1, SOD1-DT (superoxide dismutase 1| SOD1 divergent transcript) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Amyotrophic lateral sclerosis type 1 | CCCAGCCTGGCAGGGAGGGACAGGGTATTACTGGCATCTAGTGAGTAGGGGCTAGGGATTCTACTGAACATCCTACAGTGTACAGGACAGCCTCCACAGCAAAGAACTGTCTGGCCCAAAATGTCCATAGTGCCCACATTCGATGCCCTGCATTAGGAAGATATAAATACTCTTAAATATCACAGAGTTAAATTCCTTACCCCTGTTCTAGCAGAGATGATATTCTTGCGGGGGGAGCATCTTCTTGGCTTCAACACATTCTTTTCTCCATGGGAGATGATGCCAGAAGAGGGACAGAACAGGGCCCAGTAAAGCATGGG... | CCCAGCCTGGCAGGGAGGGACAGGGTATTACTGGCATCTAGTGAGTAGGGGCTAGGGATTCTACTGAACATCCTACAGTGTACAGGACAGCCTCCACAGCAAAGAACTGTCTGGCCCAAAATGTCCATAGTGCCCACATTCGATGCCCTGCATTAGGAAGATATAAATACTCTTAAATATCACAGAGTTAAATTCCTTACCCCTGTTCTAGCAGAGATGATATTCTTGCGGGGGGAGCATCTTCTTGGCTTCAACACATTCTTTTCTCCATGGGAGATGATGCCAGAAGAGGGACAGAACAGGGCCCAGTAAAGCATGGG... |
Task1_train_28264 | Located on Chromosome 21, this mutation impacts SOD1, SOD1-DT (superoxide dismutase 1| SOD1 divergent transcript). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Amyotrophic lateral sclerosis type 1 | CCCAGCCTGGCAGGGAGGGACAGGGTATTACTGGCATCTAGTGAGTAGGGGCTAGGGATTCTACTGAACATCCTACAGTGTACAGGACAGCCTCCACAGCAAAGAACTGTCTGGCCCAAAATGTCCATAGTGCCCACATTCGATGCCCTGCATTAGGAAGATATAAATACTCTTAAATATCACAGAGTTAAATTCCTTACCCCTGTTCTAGCAGAGATGATATTCTTGCGGGGGGAGCATCTTCTTGGCTTCAACACATTCTTTTCTCCATGGGAGATGATGCCAGAAGAGGGACAGAACAGGGCCCAGTAAAGCATGGG... | CCCAGCCTGGCAGGGAGGGACAGGGTATTACTGGCATCTAGTGAGTAGGGGCTAGGGATTCTACTGAACATCCTACAGTGTACAGGACAGCCTCCACAGCAAAGAACTGTCTGGCCCAAAATGTCCATAGTGCCCACATTCGATGCCCTGCATTAGGAAGATATAAATACTCTTAAATATCACAGAGTTAAATTCCTTACCCCTGTTCTAGCAGAGATGATATTCTTGCGGGGGGAGCATCTTCTTGGCTTCAACACATTCTTTTCTCCATGGGAGATGATGCCAGAAGAGGGACAGAACAGGGCCCAGTAAAGCATGGG... |
Task1_train_28265 | A variant has been detected on Chromosome 21 in SOD1, SOD1-DT (superoxide dismutase 1| SOD1 divergent transcript). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Amyotrophic lateral sclerosis type 1 | CCAGCCTGGCAGGGAGGGACAGGGTATTACTGGCATCTAGTGAGTAGGGGCTAGGGATTCTACTGAACATCCTACAGTGTACAGGACAGCCTCCACAGCAAAGAACTGTCTGGCCCAAAATGTCCATAGTGCCCACATTCGATGCCCTGCATTAGGAAGATATAAATACTCTTAAATATCACAGAGTTAAATTCCTTACCCCTGTTCTAGCAGAGATGATATTCTTGCGGGGGGAGCATCTTCTTGGCTTCAACACATTCTTTTCTCCATGGGAGATGATGCCAGAAGAGGGACAGAACAGGGCCCAGTAAAGCATGGGG... | CCAGCCTGGCAGGGAGGGACAGGGTATTACTGGCATCTAGTGAGTAGGGGCTAGGGATTCTACTGAACATCCTACAGTGTACAGGACAGCCTCCACAGCAAAGAACTGTCTGGCCCAAAATGTCCATAGTGCCCACATTCGATGCCCTGCATTAGGAAGATATAAATACTCTTAAATATCACAGAGTTAAATTCCTTACCCCTGTTCTAGCAGAGATGATATTCTTGCGGGGGGAGCATCTTCTTGGCTTCAACACATTCTTTTCTCCATGGGAGATGATGCCAGAAGAGGGACAGAACAGGGCCCAGTAAAGCATGGGG... |
Task1_train_28266 | A variant on Chromosome 21 in gene SOD1, SOD1-DT (superoxide dismutase 1| SOD1 divergent transcript) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Amyotrophic lateral sclerosis type 1 | TGGCAGGGAGGGACAGGGTATTACTGGCATCTAGTGAGTAGGGGCTAGGGATTCTACTGAACATCCTACAGTGTACAGGACAGCCTCCACAGCAAAGAACTGTCTGGCCCAAAATGTCCATAGTGCCCACATTCGATGCCCTGCATTAGGAAGATATAAATACTCTTAAATATCACAGAGTTAAATTCCTTACCCCTGTTCTAGCAGAGATGATATTCTTGCGGGGGGAGCATCTTCTTGGCTTCAACACATTCTTTTCTCCATGGGAGATGATGCCAGAAGAGGGACAGAACAGGGCCCAGTAAAGCATGGGGCCTGGG... | TGGCAGGGAGGGACAGGGTATTACTGGCATCTAGTGAGTAGGGGCTAGGGATTCTACTGAACATCCTACAGTGTACAGGACAGCCTCCACAGCAAAGAACTGTCTGGCCCAAAATGTCCATAGTGCCCACATTCGATGCCCTGCATTAGGAAGATATAAATACTCTTAAATATCACAGAGTTAAATTCCTTACCCCTGTTCTAGCAGAGATGATATTCTTGCGGGGGGAGCATCTTCTTGGCTTCAACACATTCTTTTCTCCATGGGAGATGATGCCAGAAGAGGGACAGAACAGGGCCCAGTAAAGCATGGGGCCTGGG... |
Task1_train_28267 | Gene SOD1-DT, SOD1 (SOD1 divergent transcript| superoxide dismutase 1), found on Chromosome 21, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Amyotrophic lateral sclerosis type 1 | TCTAGTGAGTAGGGGCTAGGGATTCTACTGAACATCCTACAGTGTACAGGACAGCCTCCACAGCAAAGAACTGTCTGGCCCAAAATGTCCATAGTGCCCACATTCGATGCCCTGCATTAGGAAGATATAAATACTCTTAAATATCACAGAGTTAAATTCCTTACCCCTGTTCTAGCAGAGATGATATTCTTGCGGGGGGAGCATCTTCTTGGCTTCAACACATTCTTTTCTCCATGGGAGATGATGCCAGAAGAGGGACAGAACAGGGCCCAGTAAAGCATGGGGCCTGGGGCCAGGGACCCCCTTGTTCAGGTGTGACG... | TCTAGTGAGTAGGGGCTAGGGATTCTACTGAACATCCTACAGTGTACAGGACAGCCTCCACAGCAAAGAACTGTCTGGCCCAAAATGTCCATAGTGCCCACATTCGATGCCCTGCATTAGGAAGATATAAATACTCTTAAATATCACAGAGTTAAATTCCTTACCCCTGTTCTAGCAGAGATGATATTCTTGCGGGGGGAGCATCTTCTTGGCTTCAACACATTCTTTTCTCCATGGGAGATGATGCCAGAAGAGGGACAGAACAGGGCCCAGTAAAGCATGGGGCCTGGGGCCAGGGACCCCCTTGTTCAGGTGTGACG... |
Task1_train_28268 | This mutation is located in gene SOD1, SOD1-DT (superoxide dismutase 1| SOD1 divergent transcript) on Chromosome 21. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Amyotrophic lateral sclerosis type 1 | GGCTAGGGATTCTACTGAACATCCTACAGTGTACAGGACAGCCTCCACAGCAAAGAACTGTCTGGCCCAAAATGTCCATAGTGCCCACATTCGATGCCCTGCATTAGGAAGATATAAATACTCTTAAATATCACAGAGTTAAATTCCTTACCCCTGTTCTAGCAGAGATGATATTCTTGCGGGGGGAGCATCTTCTTGGCTTCAACACATTCTTTTCTCCATGGGAGATGATGCCAGAAGAGGGACAGAACAGGGCCCAGTAAAGCATGGGGCCTGGGGCCAGGGACCCCCTTGTTCAGGTGTGACGACCATCCTACGAA... | GGCTAGGGATTCTACTGAACATCCTACAGTGTACAGGACAGCCTCCACAGCAAAGAACTGTCTGGCCCAAAATGTCCATAGTGCCCACATTCGATGCCCTGCATTAGGAAGATATAAATACTCTTAAATATCACAGAGTTAAATTCCTTACCCCTGTTCTAGCAGAGATGATATTCTTGCGGGGGGAGCATCTTCTTGGCTTCAACACATTCTTTTCTCCATGGGAGATGATGCCAGAAGAGGGACAGAACAGGGCCCAGTAAAGCATGGGGCCTGGGGCCAGGGACCCCCTTGTTCAGGTGTGACGACCATCCTACGAA... |
Task1_train_28269 | Chromosome 21 houses a mutation in gene SOD1, SOD1-DT (superoxide dismutase 1| SOD1 divergent transcript). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Amyotrophic lateral sclerosis type 1 | CTAGGGATTCTACTGAACATCCTACAGTGTACAGGACAGCCTCCACAGCAAAGAACTGTCTGGCCCAAAATGTCCATAGTGCCCACATTCGATGCCCTGCATTAGGAAGATATAAATACTCTTAAATATCACAGAGTTAAATTCCTTACCCCTGTTCTAGCAGAGATGATATTCTTGCGGGGGGAGCATCTTCTTGGCTTCAACACATTCTTTTCTCCATGGGAGATGATGCCAGAAGAGGGACAGAACAGGGCCCAGTAAAGCATGGGGCCTGGGGCCAGGGACCCCCTTGTTCAGGTGTGACGACCATCCTACGAAGG... | CTAGGGATTCTACTGAACATCCTACAGTGTACAGGACAGCCTCCACAGCAAAGAACTGTCTGGCCCAAAATGTCCATAGTGCCCACATTCGATGCCCTGCATTAGGAAGATATAAATACTCTTAAATATCACAGAGTTAAATTCCTTACCCCTGTTCTAGCAGAGATGATATTCTTGCGGGGGGAGCATCTTCTTGGCTTCAACACATTCTTTTCTCCATGGGAGATGATGCCAGAAGAGGGACAGAACAGGGCCCAGTAAAGCATGGGGCCTGGGGCCAGGGACCCCCTTGTTCAGGTGTGACGACCATCCTACGAAGG... |
Task1_train_28270 | Gene SOD1 (superoxide dismutase 1) on Chromosome 21 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Motor neuron disease | GCCTGACTTCGTTTTGTTTGGTGCCCGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCAT... | GCCTGACTTCGTTTTGTTTGGTGCCCGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCAT... |
Task1_train_28271 | This alteration occurs within gene SOD1 (superoxide dismutase 1) located on Chromosome 21. Is it associated with a disease or is it a benign variant? | Pathogenic; Amyotrophic lateral sclerosis type 1 | GCCTGACTTCGTTTTGTTTGGTGCCCGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCAT... | GCCTGACTTCGTTTTGTTTGGTGCCCGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCAT... |
Task1_train_28272 | A variant was discovered in gene SOD1 (superoxide dismutase 1), Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Amyotrophic lateral sclerosis type 1 | GCCTGACTTCGTTTTGTTTGGTGCCCGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCAT... | GCCTGACTTCGTTTTGTTTGGTGCCCGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCAT... |
Task1_train_28273 | Given this variant in gene SOD1 (superoxide dismutase 1) on Chromosome 21, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Amyotrophic lateral sclerosis type 1 | TTTGTTTGGTGCCCGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCT... | TTTGTTTGGTGCCCGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCT... |
Task1_train_28274 | An alteration has been detected in SOD1 (superoxide dismutase 1) on Chromosome 21. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Spastic tetraplegia and axial hypotonia, progressive | TTTGTTTGGTGCCCGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCT... | TTTGTTTGGTGCCCGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCT... |
Task1_train_28275 | Mutation context: Chromosome 21, Gene SOD1 (superoxide dismutase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Amyotrophic lateral sclerosis type 1 | TTTGTTTGGTGCCCGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCT... | TTTGTTTGGTGCCCGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCT... |
Task1_train_28276 | Here is a variant affecting SOD1 (superoxide dismutase 1) on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Amyotrophic lateral sclerosis type 1 | TTGTTTGGTGCCCGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCTG... | TTGTTTGGTGCCCGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCTG... |
Task1_train_28277 | Chromosome 21 houses a mutation in gene SOD1 (superoxide dismutase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Amyotrophic lateral sclerosis type 10 | GGTGCCCGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCTGCAGGGT... | GGTGCCCGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCTGCAGGGT... |
Task1_train_28278 | A variant was discovered on Chromosome 21, affecting SOD1 (superoxide dismutase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Amyotrophic lateral sclerosis type 1 | GGTGCCCGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCTGCAGGGT... | GGTGCCCGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCTGCAGGGT... |
Task1_train_28279 | This mutation is located in gene SOD1 (superoxide dismutase 1) on Chromosome 21. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Amyotrophic lateral sclerosis type 1 | CGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCTGCAGGGTTGTACC... | CGTTGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCTGCAGGGTTGTACC... |
Task1_train_28280 | This is a variant in SOD1 (superoxide dismutase 1), located on Chromosome 21. Is this mutation a likely cause of disease or not? | Pathogenic; Amyotrophic lateral sclerosis type 1 | TGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCTGCAGGGTTGTACCCGA... | TGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCTGCAGGGTTGTACCCGA... |
Task1_train_28281 | Gene SOD1 (superoxide dismutase 1), found on Chromosome 21, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Amyotrophic lateral sclerosis | TGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCTGCAGGGTTGTACCCGA... | TGTACCTGAGAATGAGCCTTGGATAGTGGAGCATTCCAGCTTTCCAGATATGCAGAGATAATACATTGGCTATCAGCTACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCTGCAGGGTTGTACCCGA... |
Task1_train_28282 | A variant was discovered in gene SOD1 (superoxide dismutase 1), Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Amyotrophic lateral sclerosis type 1 | AGAGTAGGTTCAGAGAAACTGCCAAATTTTATTTTCTTAATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCC... | AGAGTAGGTTCAGAGAAACTGCCAAATTTTATTTTCTTAATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCC... |
Task1_train_28283 | Here is a mutation in SOD1 (superoxide dismutase 1) on Chromosome 21. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Amyotrophic lateral sclerosis type 1 | AGAGAAACTGCCAAATTTTATTTTCTTAATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACT... | AGAGAAACTGCCAAATTTTATTTTCTTAATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACT... |
Task1_train_28284 | The variant affects gene SOD1 (superoxide dismutase 1), which is on Chromosome 21. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Amyotrophic lateral sclerosis type 1 | AGAAACTGCCAAATTTTATTTTCTTAATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCC... | AGAAACTGCCAAATTTTATTTTCTTAATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCC... |
Task1_train_28285 | A variant was discovered in gene SOD1 (superoxide dismutase 1), Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Amyotrophic lateral sclerosis type 1 | GAAACTGCCAAATTTTATTTTCTTAATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCT... | GAAACTGCCAAATTTTATTTTCTTAATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCT... |
Task1_train_28286 | Given this variant in gene SOD1 (superoxide dismutase 1) on Chromosome 21, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Amyotrophic lateral sclerosis type 1 | CTGCCAAATTTTATTTTCTTAATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGG... | CTGCCAAATTTTATTTTCTTAATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGG... |
Task1_train_28287 | This variant affects the gene SCAF4, SOD1 (SR-related CTD associated factor 4| superoxide dismutase 1) found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Amyotrophic lateral sclerosis type 1 | ATTTTCTTAATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGG... | ATTTTCTTAATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGG... |
Task1_train_28288 | The following genetic variant occurs in SOD1 (superoxide dismutase 1) on Chromosome 21. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Amyotrophic lateral sclerosis type 1 | AATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGAC... | AATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGAC... |
Task1_train_28289 | The gene SOD1 (superoxide dismutase 1) on Chromosome 21 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Amyotrophic lateral sclerosis type 1 | ATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACA... | ATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACA... |
Task1_train_28290 | A variant was discovered on Chromosome 21, affecting SOD1 (superoxide dismutase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Amyotrophic lateral sclerosis type 1 | ATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACA... | ATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACA... |
Task1_train_28291 | A variant affecting Chromosome 21, within the gene SOD1 (superoxide dismutase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Amyotrophic lateral sclerosis type 1 | AACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTC... | AACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTC... |
Task1_train_28292 | This alteration in SOD1 (superoxide dismutase 1) on Chromosome 21 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Motor neuron disease | AACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTC... | AACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTC... |
Task1_train_28293 | The variant affects gene SOD1 (superoxide dismutase 1), which is on Chromosome 21. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Amyotrophic lateral sclerosis type 1 | CAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTCCT... | CAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTCCT... |
Task1_train_28294 | Mutation context: Chromosome 21, Gene SOD1 (superoxide dismutase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Amyotrophic lateral sclerosis | GTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTCCTGTGCTGTCGAGGT... | GTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTCCTGTGCTGTCGAGGT... |
Task1_train_28295 | Gene SOD1 (superoxide dismutase 1) on Chromosome 21 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Amyotrophic lateral sclerosis type 1 | GTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTCCTGTGCTGTCGAGGT... | GTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTCCTGTGCTGTCGAGGT... |
Task1_train_28296 | This genomic variant is located on Chromosome 21, within the SOD1 (superoxide dismutase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Amyotrophic lateral sclerosis type 1 | TAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTCCTGTGCTGTCGAGGTTG... | TAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTCCTGTGCTGTCGAGGTTG... |
Task1_train_28297 | A variant was discovered in gene SOD1 (superoxide dismutase 1), Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; SOD1-related disorder | TAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTCCTGTGCTGTCGAGGTTG... | TAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTCCTGTGCTGTCGAGGTTG... |
Task1_train_28298 | The following genetic variant occurs in SOD1 (superoxide dismutase 1) on Chromosome 21. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Amyotrophic lateral sclerosis type 1 | TAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTCCTGTGCTGTCGAGGTTG... | TAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTCCTGTGCTGTCGAGGTTG... |
Task1_train_28299 | The gene SOD1 (superoxide dismutase 1) is located on Chromosome 21, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Amyotrophic lateral sclerosis type 1 | ATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTCCTGTGCTGTCGAGGTTGTGCTCTGTGAATGTCA... | ATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTCCTGTGCTGTCGAGGTTGTGCTCTGTGAATGTCA... |
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