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_25300 | This alteration occurs within gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Congenital myasthenic syndrome 16 | GCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCC... | GCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCC... |
Task1_train_25301 | Located on Chromosome 17, this mutation impacts GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hyperkalemic periodic paralysis | CCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCAC... | CCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCAC... |
Task1_train_25302 | This genomic variant is located on Chromosome 17, within the GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; SCN4A-related disorder | CCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCAC... | CCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCAC... |
Task1_train_25303 | An alteration has been detected in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hyperkalemic periodic paralysis | GGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAG... | GGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAG... |
Task1_train_25304 | This variant affects gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; SCN4A-related non-dystrophic myotonia | TCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTC... | TCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTC... |
Task1_train_25305 | The gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Paramyotonia congenita of Von Eulenburg | TCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTC... | TCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTC... |
Task1_train_25306 | This alteration occurs within gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Hyperkalemic periodic paralysis | GCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGAT... | GCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGAT... |
Task1_train_25307 | This variant impacts the gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Potassium-aggravated myotonia | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... |
Task1_train_25308 | A variant on Chromosome 17 in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Paramyotonia congenita of Von Eulenburg | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... |
Task1_train_25309 | Given this variant in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hypokalemic periodic paralysis, type 1 | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... |
Task1_train_25310 | Chromosome 17 houses a mutation in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Congenital myasthenic syndrome 16 | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... |
Task1_train_25311 | The gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hyperkalemic periodic paralysis | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... |
Task1_train_25312 | The gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hypokalemic periodic paralysis, type 2 | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... |
Task1_train_25313 | This variant affects the gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hyperkalemic periodic paralysis | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... |
Task1_train_25314 | An alteration has been detected in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Paramyotonia congenita of Von Eulenburg | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... |
Task1_train_25315 | Assess the clinical impact of this variant on gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; SCN4A-related myopathy, autosomal recessive | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... |
Task1_train_25316 | A genomic change on Chromosome 17 affects GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Congenital myasthenic syndrome 16 | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... |
Task1_train_25317 | A variant on Chromosome 17 in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; SCN4A-related disorder | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... | GACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCT... |
Task1_train_25318 | This variant affects the gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Potassium-aggravated myotonia | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25319 | Consider this mutation in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Hyperkalemic periodic paralysis | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25320 | This alteration occurs within gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Paramyotonia congenita of Von Eulenburg | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25321 | Given this variant in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Potassium-aggravated myotonia | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25322 | Given a variant located on Chromosome 17 and affecting GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Paramyotonia congenita of Von Eulenburg | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25323 | A variant affecting Chromosome 17, within the gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Congenital myopathy 22B, severe fetal | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25324 | Here is a genetic alteration in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Congenital myopathy 22A, classic | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25325 | An alteration has been detected in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Congenital myasthenic syndrome 16 | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25326 | Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hyperkalemic periodic paralysis | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25327 | The gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hypokalemic periodic paralysis, type 2 | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25328 | Mutation context: Chromosome 17, Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hyperkalemic periodic paralysis | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25329 | A mutation in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Potassium-aggravated myotonia | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25330 | Chromosome 17 houses a mutation in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Paramyotonia congenita of Von Eulenburg | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25331 | Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hypokalemic periodic paralysis, type 1 | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25332 | Assess the clinical impact of this variant on gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital myasthenic syndrome 16 | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25333 | A mutation found in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hyperkalemic periodic paralysis | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25334 | This is a variant in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Hypokalemic periodic paralysis, type 2 | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25335 | Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Potassium-aggravated myotonia | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25336 | With a mutation on Chromosome 17 in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Paramyotonia congenita of Von Eulenburg | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25337 | A mutation on Chromosome 17 affecting GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; SCN4A-related myopathy, autosomal recessive | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... | ATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCA... |
Task1_train_25338 | Given a variant located on Chromosome 17 and affecting GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Paramyotonia congenita of Von Eulenburg | GACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATG... | GACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATG... |
Task1_train_25339 | A variant was discovered in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Congenital myopathy 22A, classic | CTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACA... | CTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACA... |
Task1_train_25340 | This variant affects gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Congenital myasthenic syndrome 16 | TGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAG... | TGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAG... |
Task1_train_25341 | This is a variant in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Hyperkalemic periodic paralysis | ATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCA... | ATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCA... |
Task1_train_25342 | This mutation occurs in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hyperkalemic periodic paralysis | TCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGA... | TCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGA... |
Task1_train_25343 | A mutation found in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Inborn genetic diseases | TCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGA... | TCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGA... |
Task1_train_25344 | Gene SCN4A, GH-LCR (sodium voltage-gated channel alpha subunit 4| growth hormone locus control region) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hyperkalemic periodic paralysis | GGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTC... | GGAGTCCACGGCTGCATACATGATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTC... |
Task1_train_25345 | Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Congenital myopathy 22A, classic | GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCAC... | GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCAC... |
Task1_train_25346 | Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Potassium-aggravated myotonia | GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCAC... | GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCAC... |
Task1_train_25347 | An alteration has been detected in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Paramyotonia congenita of Von Eulenburg | GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCAC... | GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCAC... |
Task1_train_25348 | This genomic variant is located on Chromosome 17, within the GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Congenital myopathy 22B, severe fetal | GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCAC... | GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCAC... |
Task1_train_25349 | The gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hypokalemic periodic paralysis, type 2 | GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCAC... | GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCAC... |
Task1_train_25350 | Chromosome 17 houses a mutation in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Congenital myasthenic syndrome 16 | GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCAC... | GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCAC... |
Task1_train_25351 | This variant lies on Chromosome 17 and affects the gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hyperkalemic periodic paralysis | GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCAC... | GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCAC... |
Task1_train_25352 | This variant impacts the gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hypokalemic periodic paralysis, type 2 | GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCAC... | GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCAC... |
Task1_train_25353 | A variant was discovered in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hyperkalemic periodic paralysis | GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCAC... | GATGTCCATCCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCAC... |
Task1_train_25354 | A sequence alteration has been identified in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; not specified | CCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCAC... | CCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCAC... |
Task1_train_25355 | The gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hypokalemic periodic paralysis, type 2 | CCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCAC... | CCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCAC... |
Task1_train_25356 | With a mutation on Chromosome 17 in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hyperkalemic periodic paralysis | CCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCAC... | CCAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCAC... |
Task1_train_25357 | This is a variant in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Hyperkalemic periodic paralysis | CAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACC... | CAACCCTTGAAGGTGGCCTGAGAGAGTGTGGTTGGGGAGTGAGCCGGGGGGCTGCTCCCTGCTTTCATCATCCATGAGTTTCCCTCCCCCACCCAACCTGGTCCTCCCCTGCCAGAGGCCGCCTGCCAGAGCCCCACTGGGCTAGCATCAAATAAAGACCAGAGAGGTCTAGACACTGCCTGGGGATCCCACAGCATTGGAAGCAGGGTGGGCGGTCCCCTAACCAGGAGTGACACTGGGGTTGGGTACAACGAGAGGACCGGGGTGGGGGGCACCTCCATCCAGGTTCCCGGCAGGGGTGGTGGGTCACACTCACCACC... |
Task1_train_25358 | This is a variant in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Hyperkalemic periodic paralysis | GAACCTAAACCAGCACTGCCCTGCCGCACGCCTGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACT... | GAACCTAAACCAGCACTGCCCTGCCGCACGCCTGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACT... |
Task1_train_25359 | The variant affects gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hyperkalemic periodic paralysis | GAACCTAAACCAGCACTGCCCTGCCGCACGCCTGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACT... | GAACCTAAACCAGCACTGCCCTGCCGCACGCCTGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACT... |
Task1_train_25360 | This gene mutation involves GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Sotos syndrome | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... |
Task1_train_25361 | Here is a mutation in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hypokalemic periodic paralysis, type 2 | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... |
Task1_train_25362 | A variant was discovered on Chromosome 17, affecting GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Congenital myasthenic syndrome 16 | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... |
Task1_train_25363 | The gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hyperkalemic periodic paralysis | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... |
Task1_train_25364 | A variant on Chromosome 17 in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hypokalemic periodic paralysis, type 2 | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... |
Task1_train_25365 | This is a variant in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Potassium-aggravated myotonia | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... |
Task1_train_25366 | A genetic alteration is present in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Paramyotonia congenita of Von Eulenburg | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... |
Task1_train_25367 | A variant was discovered on Chromosome 17, affecting GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hypokalemic periodic paralysis, type 1 | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... |
Task1_train_25368 | Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hyperkalemic periodic paralysis | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... |
Task1_train_25369 | Given a variant located on Chromosome 17 and affecting GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; SCN4A-related disorder | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... | TGCAACACCTGTACTCCCAGCCACGTGGCCAGGCACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAAT... |
Task1_train_25370 | Given a variant located on Chromosome 17 and affecting GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hyperkalemic periodic paralysis | CACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCT... | CACTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCT... |
Task1_train_25371 | This sequence variant lies in SCN4A, GH-LCR (sodium voltage-gated channel alpha subunit 4| growth hormone locus control region) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hyperkalemic periodic paralysis | CTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCT... | CTTTGGTAAGCACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCT... |
Task1_train_25372 | This sequence variant lies in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | ACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACT... | ACTTGTAAGCGCATGCGTAACATAATCCTTGCAACCACCCAGTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACT... |
Task1_train_25373 | Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hyperkalemic periodic paralysis | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... |
Task1_train_25374 | Given a variant located on Chromosome 17 and affecting GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hypokalemic periodic paralysis, type 2 | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... |
Task1_train_25375 | Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Potassium-aggravated myotonia | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... |
Task1_train_25376 | Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Congenital myopathy 22A, classic | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... |
Task1_train_25377 | The gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Congenital myopathy 22B, severe fetal | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... |
Task1_train_25378 | This gene mutation involves GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Paramyotonia congenita of Von Eulenburg | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... |
Task1_train_25379 | This sequence change occurs on Chromosome 17, altering GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Congenital myasthenic syndrome 16 | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... |
Task1_train_25380 | A variant on Chromosome 17 in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hypokalemic periodic paralysis, type 2 | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... |
Task1_train_25381 | Mutation context: Chromosome 17, Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hyperkalemic periodic paralysis | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... |
Task1_train_25382 | The gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Congenital myasthenic syndrome 16 | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... |
Task1_train_25383 | Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Myopathy | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... | GTGAAAGAGTCATCCCCATTTTCATCCCCGTTTTCCAGATGGGAAAACTGAGGCCCAAAGGGTTAAATAACGGGCTCGAGGTTTCCCAGTCAGTGAGTGGCAAAGTGGGGATTTAAAACGTTTCTGAGTTTCCACACATAGAAACAGCAACTCCCTGAAGACTCAGTCACCCCCAAGTCCTTAGACTTACATCAACAAACTCCTACTCAGGGTCTGCTCTCCCCATCCCCAATCCTGCCCCAAAGTTGGGCCCGGGCACCTTCCCTCTCTCTCCCCACTCCCTAAGACCCTCCTTTCAGGGACAGGAGGCCTGGGTTCTC... |
Task1_train_25384 | This mutation is located in gene SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hyperkalemic periodic paralysis | CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGG... | CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGG... |
Task1_train_25385 | Located on Chromosome 17, this mutation impacts SCN4A (sodium voltage-gated channel alpha subunit 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hypokalemic periodic paralysis, type 2 | CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGG... | CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGG... |
Task1_train_25386 | A variant was discovered on Chromosome 17, affecting SCN4A (sodium voltage-gated channel alpha subunit 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Potassium-aggravated myotonia | CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGG... | CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGG... |
Task1_train_25387 | A variant affecting Chromosome 17, within the gene SCN4A (sodium voltage-gated channel alpha subunit 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Paramyotonia congenita of Von Eulenburg | CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGG... | CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGG... |
Task1_train_25388 | Mutation context: Chromosome 17, Gene SCN4A (sodium voltage-gated channel alpha subunit 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hypokalemic periodic paralysis, type 1 | CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGG... | CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGG... |
Task1_train_25389 | This alteration occurs within gene SCN4A (sodium voltage-gated channel alpha subunit 4) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Congenital myasthenic syndrome 16 | CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGG... | CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGG... |
Task1_train_25390 | Given a variant located on Chromosome 17 and affecting SCN4A (sodium voltage-gated channel alpha subunit 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Paramyotonia congenita of Von Eulenburg | CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGG... | CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGG... |
Task1_train_25391 | This mutation is located in gene SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hyperkalemic periodic paralysis | CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGG... | CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGG... |
Task1_train_25392 | Gene SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Acetazolamide-responsive myotonia | CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGG... | CCACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGG... |
Task1_train_25393 | Given this variant in gene SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hyperkalemic periodic paralysis | CACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGG... | CACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGG... |
Task1_train_25394 | Here is a mutation in SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hypokalemic periodic paralysis, type 2 | CACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGG... | CACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGG... |
Task1_train_25395 | The gene SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hyperkalemic periodic paralysis | CACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGG... | CACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGG... |
Task1_train_25396 | Here is a variant affecting SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hyperkalemic periodic paralysis | CACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGG... | CACCTCCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGG... |
Task1_train_25397 | A variant has been detected on Chromosome 17 in SCN4A (sodium voltage-gated channel alpha subunit 4). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Potassium-aggravated myotonia | CCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAAT... | CCATGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAAT... |
Task1_train_25398 | A genetic alteration is present in SCN4A (sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hyperkalemic periodic paralysis | TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAG... | TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAG... |
Task1_train_25399 | This variant lies on Chromosome 17 and affects the gene SCN4A (sodium voltage-gated channel alpha subunit 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hypokalemic periodic paralysis, type 2 | TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAG... | TGCAGTCCCACATGGTCTCGATCCACTCCCCGCACAGGATGCGGAAGACGATGAGGAAGGAGTGGAAGAAATCATGCATGTGCCAGCGCGGCAGGTTGCAGTCCAAGGCAATCTTGCACACGCACTCCTTGTAGCTCTTGCCAAACAGCTGCATGCCCACCACGGCGAAGATGAACACGATGATAGCCAGCACCAGCGTCAGGTTACCCAGCGCCCCCACTGAATTGCCAATGATCTTGATGAGCATGTTCAGCGTTGGCCACGACTTGGCCAGCTTGAAGACCCGCAGCTGCCAAGCAGGGAGGGCAAGGGTGAATGAG... |
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