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_25200 | Here is a genetic alteration in NOG (noggin) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Symphalangism-brachydactyly syndrome | GGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAG... | GGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAG... |
Task1_train_25201 | The gene NOG (noggin) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Symphalangism-brachydactyly syndrome | CCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGC... | CCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGC... |
Task1_train_25202 | A sequence alteration has been identified in NOG (noggin) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Proximal symphalangism 1A | ACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACC... | ACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACC... |
Task1_train_25203 | Gene NOG (noggin), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Proximal symphalangism 1A | GAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCC... | GAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCC... |
Task1_train_25204 | Here is a mutation in NOG (noggin) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Symphalangism-brachydactyly syndrome | GCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCC... | GCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCC... |
Task1_train_25205 | This sequence change occurs on Chromosome 17, altering MRPS23 (mitochondrial ribosomal protein S23). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Combined oxidative phosphorylation deficiency 46 | ATCTCAAAAAAAAAAAAAAAGAATGTTCCTAGGCAACCATTAGGAGCACATTTTCTGTGACTATTTAAGTTTTGGAAAAAAAGAGAATAAAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGCTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGAAGGCAGAGTTTGCAGTGA... | ATCTCAAAAAAAAAAAAAAAGAATGTTCCTAGGCAACCATTAGGAGCACATTTTCTGTGACTATTTAAGTTTTGGAAAAAAAGAGAATAAAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGCTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGAAGGCAGAGTTTGCAGTGA... |
Task1_train_25206 | This alteration occurs within gene LOC126862603, SRSF1 (BRD4-independent group 4 enhancer GRCh37_chr17:56082218-56083417| serine and arginine rich splicing factor 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities | AAATCCACACGAATGCGGTTTGGTTGGGGCAGGAATCCACTCCTATGTTCCTGGTAATCTGATCCCGCTCCATGAATCCTGGTAATTCATCCTCCCTATCCTATCCACATTATGATTTGAATCCAATGATCCAGCTCCAAGGATTGGGATCCAGTGAGCCCTCTCCAATCCAAACCTTTATAACCAGCAAAACCAAAAAAGAGGAGGCAAAATGTTAGATACTGTAATCAAAAAAGGTTTCTGGGGAATGATGAGTTATGTCTGTCATCAGTTTAACAGATGCACATCAATAACTATCAAATTCCCCAAAACAAGTTTCT... | AAATCCACACGAATGCGGTTTGGTTGGGGCAGGAATCCACTCCTATGTTCCTGGTAATCTGATCCCGCTCCATGAATCCTGGTAATTCATCCTCCCTATCCTATCCACATTATGATTTGAATCCAATGATCCAGCTCCAAGGATTGGGATCCAGTGAGCCCTCTCCAATCCAAACCTTTATAACCAGCAAAACCAAAAAAGAGGAGGCAAAATGTTAGATACTGTAATCAAAAAAGGTTTCTGGGGAATGATGAGTTATGTCTGTCATCAGTTTAACAGATGCACATCAATAACTATCAAATTCCCCAAAACAAGTTTCT... |
Task1_train_25207 | Here is a mutation in LOC126862603, SRSF1 (BRD4-independent group 4 enhancer GRCh37_chr17:56082218-56083417| serine and arginine rich splicing factor 1) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Neurodevelopmental delay | AAATCCACACGAATGCGGTTTGGTTGGGGCAGGAATCCACTCCTATGTTCCTGGTAATCTGATCCCGCTCCATGAATCCTGGTAATTCATCCTCCCTATCCTATCCACATTATGATTTGAATCCAATGATCCAGCTCCAAGGATTGGGATCCAGTGAGCCCTCTCCAATCCAAACCTTTATAACCAGCAAAACCAAAAAAGAGGAGGCAAAATGTTAGATACTGTAATCAAAAAAGGTTTCTGGGGAATGATGAGTTATGTCTGTCATCAGTTTAACAGATGCACATCAATAACTATCAAATTCCCCAAAACAAGTTTCT... | AAATCCACACGAATGCGGTTTGGTTGGGGCAGGAATCCACTCCTATGTTCCTGGTAATCTGATCCCGCTCCATGAATCCTGGTAATTCATCCTCCCTATCCTATCCACATTATGATTTGAATCCAATGATCCAGCTCCAAGGATTGGGATCCAGTGAGCCCTCTCCAATCCAAACCTTTATAACCAGCAAAACCAAAAAAGAGGAGGCAAAATGTTAGATACTGTAATCAAAAAAGGTTTCTGGGGAATGATGAGTTATGTCTGTCATCAGTTTAACAGATGCACATCAATAACTATCAAATTCCCCAAAACAAGTTTCT... |
Task1_train_25208 | This variant lies on Chromosome 17 and affects the gene LOC126862603, SRSF1 (BRD4-independent group 4 enhancer GRCh37_chr17:56082218-56083417| serine and arginine rich splicing factor 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Intellectual disability | AAATCCACACGAATGCGGTTTGGTTGGGGCAGGAATCCACTCCTATGTTCCTGGTAATCTGATCCCGCTCCATGAATCCTGGTAATTCATCCTCCCTATCCTATCCACATTATGATTTGAATCCAATGATCCAGCTCCAAGGATTGGGATCCAGTGAGCCCTCTCCAATCCAAACCTTTATAACCAGCAAAACCAAAAAAGAGGAGGCAAAATGTTAGATACTGTAATCAAAAAAGGTTTCTGGGGAATGATGAGTTATGTCTGTCATCAGTTTAACAGATGCACATCAATAACTATCAAATTCCCCAAAACAAGTTTCT... | AAATCCACACGAATGCGGTTTGGTTGGGGCAGGAATCCACTCCTATGTTCCTGGTAATCTGATCCCGCTCCATGAATCCTGGTAATTCATCCTCCCTATCCTATCCACATTATGATTTGAATCCAATGATCCAGCTCCAAGGATTGGGATCCAGTGAGCCCTCTCCAATCCAAACCTTTATAACCAGCAAAACCAAAAAAGAGGAGGCAAAATGTTAGATACTGTAATCAAAAAAGGTTTCTGGGGAATGATGAGTTATGTCTGTCATCAGTTTAACAGATGCACATCAATAACTATCAAATTCCCCAAAACAAGTTTCT... |
Task1_train_25209 | A change on Chromosome 17 affects gene SRSF1 (serine and arginine rich splicing factor 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Neurodevelopmental delay | GTGAGACTTAAAAGTATTCCCAACTAGATTATCTACACCAATACATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGC... | GTGAGACTTAAAAGTATTCCCAACTAGATTATCTACACCAATACATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGC... |
Task1_train_25210 | Mutation context: Chromosome 17, Gene SRSF1 (serine and arginine rich splicing factor 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Intellectual disability | GTGAGACTTAAAAGTATTCCCAACTAGATTATCTACACCAATACATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGC... | GTGAGACTTAAAAGTATTCCCAACTAGATTATCTACACCAATACATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGC... |
Task1_train_25211 | Here is a variant affecting SRSF1 (serine and arginine rich splicing factor 1) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Neurodevelopmental delay | CATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGCAATATAATTTTGCCACAATTGCCAAGGTTTAAAAAGCAAAGCA... | CATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGCAATATAATTTTGCCACAATTGCCAAGGTTTAAAAAGCAAAGCA... |
Task1_train_25212 | A variant was discovered on Chromosome 17, affecting SRSF1 (serine and arginine rich splicing factor 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Intellectual disability | CATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGCAATATAATTTTGCCACAATTGCCAAGGTTTAAAAAGCAAAGCA... | CATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGCAATATAATTTTGCCACAATTGCCAAGGTTTAAAAAGCAAAGCA... |
Task1_train_25213 | Here’s a variant in SRSF1 (serine and arginine rich splicing factor 1) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Neurodevelopmental delay | TCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAAT... | TCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAAT... |
Task1_train_25214 | This sequence variant lies in SRSF1 (serine and arginine rich splicing factor 1) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Intellectual disability | TCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAAT... | TCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAAT... |
Task1_train_25215 | This mutation occurs in MKS1 (MKS transition zone complex subunit 1) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Meckel-Gruber syndrome | TCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGTAGGGGCCC... | TCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGTAGGGGCCC... |
Task1_train_25216 | With a mutation on Chromosome 17 in gene MKS1 (MKS transition zone complex subunit 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Familial aplasia of the vermis | TCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGTAGGGGCCC... | TCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGTAGGGGCCC... |
Task1_train_25217 | This is a variant in MKS1 (MKS transition zone complex subunit 1), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Familial aplasia of the vermis | ATATAAAGGGGGGGCCACAGGGTCTCTGGCTTTATTTCCACAGGGTAGGGAGAAGACCCTGCAGAAGGCTAGGCAGAGGGGCCAGCCGGGAATTTCCCAGCTTTTCTGGTTCTCAGCAGACCAACGTGGTCTCTAATCAGAAAGACGAAGAGGCAGGAGAGCACTGGCCTCAGATATCCCCCATCTTGTCCTCTTGCACTGTGGGCCAGGGCTGCTGTGAGCTAGGAGACCAGGGTTCCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAG... | ATATAAAGGGGGGGCCACAGGGTCTCTGGCTTTATTTCCACAGGGTAGGGAGAAGACCCTGCAGAAGGCTAGGCAGAGGGGCCAGCCGGGAATTTCCCAGCTTTTCTGGTTCTCAGCAGACCAACGTGGTCTCTAATCAGAAAGACGAAGAGGCAGGAGAGCACTGGCCTCAGATATCCCCCATCTTGTCCTCTTGCACTGTGGGCCAGGGCTGCTGTGAGCTAGGAGACCAGGGTTCCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAG... |
Task1_train_25218 | A mutation in MKS1 (MKS transition zone complex subunit 1), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Familial aplasia of the vermis | TGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTTATAGATTAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCACATTTCCCCCTTTTCTTTTTGACAAAACCGCCATCGTCATCATGGCCCATTCTCAATGGTCGCTGTCTCTTCGGAGCTGTTGGGTACACCTCCCAGATGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGACGGGGCGGACAGTTT... | TGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTTATAGATTAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCACATTTCCCCCTTTTCTTTTTGACAAAACCGCCATCGTCATCATGGCCCATTCTCAATGGTCGCTGTCTCTTCGGAGCTGTTGGGTACACCTCCCAGATGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGACGGGGCGGACAGTTT... |
Task1_train_25219 | The gene MKS1, LOC130061271 (MKS transition zone complex subunit 1| ATAC-STARR-seq lymphoblastoid active region 12461), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Meckel-Gruber syndrome | TACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCAC... | TACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCAC... |
Task1_train_25220 | The following genetic variant occurs in MKS1, LOC130061271 (MKS transition zone complex subunit 1| ATAC-STARR-seq lymphoblastoid active region 12461) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Familial aplasia of the vermis | TACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCAC... | TACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCAC... |
Task1_train_25221 | Here is a mutation in MKS1, LOC130061271 (MKS transition zone complex subunit 1| ATAC-STARR-seq lymphoblastoid active region 12461) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Familial aplasia of the vermis | TACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCAC... | TACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCAC... |
Task1_train_25222 | This variant affects gene LOC106694316, MPO (enhancer region in introns 7-9 of MPO| myeloperoxidase) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Myeloperoxidase deficiency | TGACAAAGTCCCGGGGATATGAGTTGGACATGAAGATGTTGTTCTTAGACACGGTGGTGATGCCTGTGTTGTCGCAGATGATCCGGGGCAATGAGATCTGGGCCAGGGCCTGTCGCTGCTGCATGCTGAACACACCCTCGTTCTCCCACCAAAACCTGCATGGGGAACACCCATGGACACTGTGCCCAAGGATATTCTGGGCTGGCAGGGCATCGATGGGCTTGTGCTGCTCCCAGGATATAACAAAGCCACAACAAATGCCACCTGGAAGCACAGGAGGGCCCCAGGCCCTTGGGCAGCCCAGGGGCTTTCACACAAGT... | TGACAAAGTCCCGGGGATATGAGTTGGACATGAAGATGTTGTTCTTAGACACGGTGGTGATGCCTGTGTTGTCGCAGATGATCCGGGGCAATGAGATCTGGGCCAGGGCCTGTCGCTGCTGCATGCTGAACACACCCTCGTTCTCCCACCAAAACCTGCATGGGGAACACCCATGGACACTGTGCCCAAGGATATTCTGGGCTGGCAGGGCATCGATGGGCTTGTGCTGCTCCCAGGATATAACAAAGCCACAACAAATGCCACCTGGAAGCACAGGAGGGCCCCAGGCCCTTGGGCAGCCCAGGGGCTTTCACACAAGT... |
Task1_train_25223 | This sequence variant lies in LOC106694316, MPO (enhancer region in introns 7-9 of MPO| myeloperoxidase) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Myeloperoxidase deficiency | TTGTCGCAGATGATCCGGGGCAATGAGATCTGGGCCAGGGCCTGTCGCTGCTGCATGCTGAACACACCCTCGTTCTCCCACCAAAACCTGCATGGGGAACACCCATGGACACTGTGCCCAAGGATATTCTGGGCTGGCAGGGCATCGATGGGCTTGTGCTGCTCCCAGGATATAACAAAGCCACAACAAATGCCACCTGGAAGCACAGGAGGGCCCCAGGCCCTTGGGCAGCCCAGGGGCTTTCACACAAGTGATGCTCCACTCATCGTGCAGAGTAAAGCACAGCTGCCCAGTGGCCTTTCCCTTACCCCTAGCCCGGC... | TTGTCGCAGATGATCCGGGGCAATGAGATCTGGGCCAGGGCCTGTCGCTGCTGCATGCTGAACACACCCTCGTTCTCCCACCAAAACCTGCATGGGGAACACCCATGGACACTGTGCCCAAGGATATTCTGGGCTGGCAGGGCATCGATGGGCTTGTGCTGCTCCCAGGATATAACAAAGCCACAACAAATGCCACCTGGAAGCACAGGAGGGCCCCAGGCCCTTGGGCAGCCCAGGGGCTTTCACACAAGTGATGCTCCACTCATCGTGCAGAGTAAAGCACAGCTGCCCAGTGGCCTTTCCCTTACCCCTAGCCCGGC... |
Task1_train_25224 | With a mutation on Chromosome 17 in gene LOC106694316, MPO (enhancer region in introns 7-9 of MPO| myeloperoxidase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Myeloperoxidase deficiency | TTCAGGGCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGGCTCGGACACGCCGCCCATCCAGATGTCGATGTTGTTGGGCGTGCCATACTGCTCCATCAGTTTCCTCG... | TTCAGGGCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGGCTCGGACACGCCGCCCATCCAGATGTCGATGTTGTTGGGCGTGCCATACTGCTCCATCAGTTTCCTCG... |
Task1_train_25225 | Gene LOC106694316, MPO (enhancer region in introns 7-9 of MPO| myeloperoxidase) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Myeloperoxidase deficiency | GCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGGCTCGGACACGCCGCCCATCCAGATGTCGATGTTGTTGGGCGTGCCATACTGCTCCATCAGTTTCCTCGCCAATT... | GCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGGCTCGGACACGCCGCCCATCCAGATGTCGATGTTGTTGGGCGTGCCATACTGCTCCATCAGTTTCCTCGCCAATT... |
Task1_train_25226 | The gene LOC106694316, MPO (enhancer region in introns 7-9 of MPO| myeloperoxidase) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; MPO-related disorder | GCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGGCTCGGACACGCCGCCCATCCAGATGTCGATGTTGTTGGGCGTGCCATACTGCTCCATCAGTTTCCTCGCCAATT... | GCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGGCTCGGACACGCCGCCCATCCAGATGTCGATGTTGTTGGGCGTGCCATACTGCTCCATCAGTTTCCTCGCCAATT... |
Task1_train_25227 | With a mutation on Chromosome 17 in gene TEX14 (testis expressed 14, intercellular bridge forming factor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Spermatogenic failure 23 | GACAGGACAAGGAAGCCTGCAAAAGTGTGGTGAGCCCAGCTACCCTGCTTACAGAAAGAGATGCCATCAGAGGAAAGCCAAATGGGAAGGATTCTCTACATACAAACCCTAAGTCAACCAATCCCAGAGAAGTTAAAATGACACTCCTCCCTTCCAAGCTTAACCCTGAGCATGGAGAAAAGCATGGAGCCCACCTCCTGCAGCTGTGATGGGAGAAGAGGGGGCTGCCCATCCAGCTGGCAGCAAGTCTCTCGTATCAGCTGAAAATAGCCCAAGAAACCGTAAGTTAAGCATTTGTGGTCTTTTGCAACCTTAGTAAT... | GACAGGACAAGGAAGCCTGCAAAAGTGTGGTGAGCCCAGCTACCCTGCTTACAGAAAGAGATGCCATCAGAGGAAAGCCAAATGGGAAGGATTCTCTACATACAAACCCTAAGTCAACCAATCCCAGAGAAGTTAAAATGACACTCCTCCCTTCCAAGCTTAACCCTGAGCATGGAGAAAAGCATGGAGCCCACCTCCTGCAGCTGTGATGGGAGAAGAGGGGGCTGCCCATCCAGCTGGCAGCAAGTCTCTCGTATCAGCTGAAAATAGCCCAAGAAACCGTAAGTTAAGCATTTGTGGTCTTTTGCAACCTTAGTAAT... |
Task1_train_25228 | The gene TRIM37 (tripartite motif containing 37), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Mulibrey nanism syndrome | TGGTGGCTCACGCCTGTAATCCTAGCACTGTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAACACAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAAGCCGGGAGGCGGAGGTTGGAGTGAGCTGAGATCACCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAACAAAACAAAACAAATAATAATAATAATTCTCCATCTTCC... | TGGTGGCTCACGCCTGTAATCCTAGCACTGTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAACACAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAAGCCGGGAGGCGGAGGTTGGAGTGAGCTGAGATCACCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAACAAAACAAAACAAATAATAATAATAATTCTCCATCTTCC... |
Task1_train_25229 | A variant on Chromosome 17 in gene TRIM37 (tripartite motif containing 37) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not specified | TGGTGGCTCACGCCTGTAATCCTAGCACTGTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAACACAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAAGCCGGGAGGCGGAGGTTGGAGTGAGCTGAGATCACCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAACAAAACAAAACAAATAATAATAATAATTCTCCATCTTCC... | TGGTGGCTCACGCCTGTAATCCTAGCACTGTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAACACAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAAGCCGGGAGGCGGAGGTTGGAGTGAGCTGAGATCACCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAACAAAACAAAACAAATAATAATAATAATTCTCCATCTTCC... |
Task1_train_25230 | Here is a mutation in SMG8 (SMG8 nonsense mediated mRNA decay factor) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Alzahrani-Kuwahara syndrome | GTAATATATATTATTATGTATATATATAATATATATATTATATCATAATCCCTTCCCTCACTAAGTAATCACTGACCTACTTGGTACAATAAATATTTCCTTGCTTTTAGTAAGAACACACCCCTAAATGCAATGGTTTATTTTGCTTGCTTTTGAACTCTATAGAAATAAAATCAGGCCTGGCGCAGTGGCTCTCGCCTGTAATCCCACCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGATCAGGAGATTGAGACTATCCTGGCCAACATGGTGAAATCCTGTCTCTATTAAAAATACAAAAGTTAGCTGGGTGTG... | GTAATATATATTATTATGTATATATATAATATATATATTATATCATAATCCCTTCCCTCACTAAGTAATCACTGACCTACTTGGTACAATAAATATTTCCTTGCTTTTAGTAAGAACACACCCCTAAATGCAATGGTTTATTTTGCTTGCTTTTGAACTCTATAGAAATAAAATCAGGCCTGGCGCAGTGGCTCTCGCCTGTAATCCCACCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGATCAGGAGATTGAGACTATCCTGGCCAACATGGTGAAATCCTGTCTCTATTAAAAATACAAAAGTTAGCTGGGTGTG... |
Task1_train_25231 | A variant has been detected on Chromosome 17 in CLTC (clathrin heavy chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Intellectual disability, autosomal dominant 56 | ATGTAATGCGAATCAGTCCAGATCAGGGACAGCAGTTTGCCCAAATGTTAGTTCAAGATGAAGAGCCTCTTGCTGACATCACACAGGTAATGTGATTAAAATATATTTTGTAGAAGCTGATTGAAATGGAGAGTGGGGGCCAGCCATGGTGGTTGACTTGGGAGTCCAAGGTGGGAGTATTGCTTGAGGCCAAGAATTCAAGACCAGTCTGGGCAACATTGTGAGACCCTGTAACTACAAAAAATTTAAAAATCAGCTGCATGTGGTGGCACATGCCTGTCGCCCCAGCTACTCGGGTGGCTGAAGTGGAGGGATAGCTT... | ATGTAATGCGAATCAGTCCAGATCAGGGACAGCAGTTTGCCCAAATGTTAGTTCAAGATGAAGAGCCTCTTGCTGACATCACACAGGTAATGTGATTAAAATATATTTTGTAGAAGCTGATTGAAATGGAGAGTGGGGGCCAGCCATGGTGGTTGACTTGGGAGTCCAAGGTGGGAGTATTGCTTGAGGCCAAGAATTCAAGACCAGTCTGGGCAACATTGTGAGACCCTGTAACTACAAAAAATTTAAAAATCAGCTGCATGTGGTGGCACATGCCTGTCGCCCCAGCTACTCGGGTGGCTGAAGTGGAGGGATAGCTT... |
Task1_train_25232 | A variant has been detected on Chromosome 17 in CLTC (clathrin heavy chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Intellectual disability, autosomal dominant 56 | TAGGAAATACCCTCTAAAATGCTATAAAAAGTCCTTTACTTTTTACCTTGAAATTAATCTATCATATCTTCTTTAGGTTTGCAATGAGAATTCCCTCTTCAAAAGTCTTTCTCGCTACCTGGTACGTCGAAAGGATCCAGAATTGTGGGGCAGCGTGCTGCTGGAAAGCAATCCTTACAGGAGACCCCTAATTGACCAGGTAACATTGGCAAATGTGTTTATGGCTGTCAGTAAAAATTATACATTTTTAACTATGAATACAATCCTTTCCCTCATCATGTACTCAAATGGATCATATATAACTATGAGAGAAAGCAATA... | TAGGAAATACCCTCTAAAATGCTATAAAAAGTCCTTTACTTTTTACCTTGAAATTAATCTATCATATCTTCTTTAGGTTTGCAATGAGAATTCCCTCTTCAAAAGTCTTTCTCGCTACCTGGTACGTCGAAAGGATCCAGAATTGTGGGGCAGCGTGCTGCTGGAAAGCAATCCTTACAGGAGACCCCTAATTGACCAGGTAACATTGGCAAATGTGTTTATGGCTGTCAGTAAAAATTATACATTTTTAACTATGAATACAATCCTTTCCCTCATCATGTACTCAAATGGATCATATATAACTATGAGAGAAAGCAATA... |
Task1_train_25233 | Assess the clinical impact of this variant on gene CLTC (clathrin heavy chain), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Abnormal corpus callosum morphology | ATTCAAGCCTCTGTTGTTAAATGATTTGCTGATGGTGCTGTCTCCACGGTTGGATCACACTCGTGCAGTCAATTATTTCAGCAAGGTAAAGTAATAATTTTAAACCAAAGCTTCATAGCAAGGAATTAGGACATACTTCGATAACTTTTGTCCCTGGGACTTCAATAATGTGCTATATTTGTAACAAACTCTTTATTTTAAAGGTTAAACAGCTACCACTGGTGAAACCGTATTTGCGTTCAGTTCAGAACCATAACAACAAATCTGTGAATGAATCATTGAACAATCTTTTTATTACAGAAGAAGATTATCAGGTAAAA... | ATTCAAGCCTCTGTTGTTAAATGATTTGCTGATGGTGCTGTCTCCACGGTTGGATCACACTCGTGCAGTCAATTATTTCAGCAAGGTAAAGTAATAATTTTAAACCAAAGCTTCATAGCAAGGAATTAGGACATACTTCGATAACTTTTGTCCCTGGGACTTCAATAATGTGCTATATTTGTAACAAACTCTTTATTTTAAAGGTTAAACAGCTACCACTGGTGAAACCGTATTTGCGTTCAGTTCAGAACCATAACAACAAATCTGTGAATGAATCATTGAACAATCTTTTTATTACAGAAGAAGATTATCAGGTAAAA... |
Task1_train_25234 | This variant lies on Chromosome 17 and affects the gene PTRH2 (peptidyl-tRNA hydrolase 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | AAACCTATTTAGTTTCATCCAGGACATTAAGTGAAAGTGTTTAATGTGAGTGCAGGTCAGTGAAGAATACAATGGTGCCCCTGCTTTGATTTGTGGGAGGTGCCATCAGTTTTCCCCACCACTGCTTTTGCACCCTCAGTGCAAATATCAACACAGAGAAAAAAAAAATAATAATAGTATTATGAAAACATTGACTCTGTGGAGACCCTGTGGGTTCTGCAGAGTATACTTTGAAAACTATAAGATTATGAGTTCTATAAAATACCAAGTACAGATGAACTAGAAAACAAGCATATATCCACAATTACCAGAATTTTCAT... | AAACCTATTTAGTTTCATCCAGGACATTAAGTGAAAGTGTTTAATGTGAGTGCAGGTCAGTGAAGAATACAATGGTGCCCCTGCTTTGATTTGTGGGAGGTGCCATCAGTTTTCCCCACCACTGCTTTTGCACCCTCAGTGCAAATATCAACACAGAGAAAAAAAAAATAATAATAGTATTATGAAAACATTGACTCTGTGGAGACCCTGTGGGTTCTGCAGAGTATACTTTGAAAACTATAAGATTATGAGTTCTATAAAATACCAAGTACAGATGAACTAGAAAACAAGCATATATCCACAATTACCAGAATTTTCAT... |
Task1_train_25235 | A variant affecting Chromosome 17, within the gene PTRH2 (peptidyl-tRNA hydrolase 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | AAACCTATTTAGTTTCATCCAGGACATTAAGTGAAAGTGTTTAATGTGAGTGCAGGTCAGTGAAGAATACAATGGTGCCCCTGCTTTGATTTGTGGGAGGTGCCATCAGTTTTCCCCACCACTGCTTTTGCACCCTCAGTGCAAATATCAACACAGAGAAAAAAAAAATAATAATAGTATTATGAAAACATTGACTCTGTGGAGACCCTGTGGGTTCTGCAGAGTATACTTTGAAAACTATAAGATTATGAGTTCTATAAAATACCAAGTACAGATGAACTAGAAAACAAGCATATATCCACAATTACCAGAATTTTCAT... | AAACCTATTTAGTTTCATCCAGGACATTAAGTGAAAGTGTTTAATGTGAGTGCAGGTCAGTGAAGAATACAATGGTGCCCCTGCTTTGATTTGTGGGAGGTGCCATCAGTTTTCCCCACCACTGCTTTTGCACCCTCAGTGCAAATATCAACACAGAGAAAAAAAAAATAATAATAGTATTATGAAAACATTGACTCTGTGGAGACCCTGTGGGTTCTGCAGAGTATACTTTGAAAACTATAAGATTATGAGTTCTATAAAATACCAAGTACAGATGAACTAGAAAACAAGCATATATCCACAATTACCAGAATTTTCAT... |
Task1_train_25236 | Consider a variant on Chromosome 17 in gene CA4 (carbonic anhydrase 4). Determine its clinical classification and disease relevance. | Pathogenic; Retinal dystrophy | CTCTTATTAACATCTTGCATCCATGTGGGACATTTGAGGTGCAGCCTTTTTTTCAGAGATGCTGGGTTCTATTGCCCTGAGGCAGAGCCCTCAGCCTGTCCCCAGAGATCAGGACTGTGCGGTTGAGGGGCAGGGGAGGAAGCCTGGCTGCTTTCCTCCTAGCGGGAGCTGTGAGACGCTAGCCAAGAAGGGATCTTAGTAACACAGGGTGAGACATTCTGGGGAGGGGCCGCCTAATCTCCTCCCTCATCTTGGATCTGGGAAGGCTGCCCGGTTGAACCTGACTCTATTGTCCCAGGAGCGGAGGCTGGGCCAAGTCC... | CTCTTATTAACATCTTGCATCCATGTGGGACATTTGAGGTGCAGCCTTTTTTTCAGAGATGCTGGGTTCTATTGCCCTGAGGCAGAGCCCTCAGCCTGTCCCCAGAGATCAGGACTGTGCGGTTGAGGGGCAGGGGAGGAAGCCTGGCTGCTTTCCTCCTAGCGGGAGCTGTGAGACGCTAGCCAAGAAGGGATCTTAGTAACACAGGGTGAGACATTCTGGGGAGGGGCCGCCTAATCTCCTCCCTCATCTTGGATCTGGGAAGGCTGCCCGGTTGAACCTGACTCTATTGTCCCAGGAGCGGAGGCTGGGCCAAGTCC... |
Task1_train_25237 | This mutation occurs in TBX4 (T-box transcription factor 4) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive amelia | AGGGGGAGGTGAGGCAGCTGCTGCCCTCCCTGCTTCAGCTGTTGGCCCACCAGGAGAGAGGCAGGGCCGGGAAAGGGTGGTGCAAGATCCAGCTGCGCCCCCAGGCCCCATAGGGGGGCTGGTAAGCAGGAGGCAGGGTTGGGTTCCTGAGCCCCTCACTTCCCCCATTCCTGGAGAGGGGGTGGGGTGGGTATTTGAAAATGCTTTCAATTGACATCTGAGACAAATTCTTCCACAAGGTTTATAAGTCCCTAGACTTGCAGCTAGAACTTCCCTCCTCCCTCCAGGCACGCACACATCCACACATGCGCACTTGCACA... | AGGGGGAGGTGAGGCAGCTGCTGCCCTCCCTGCTTCAGCTGTTGGCCCACCAGGAGAGAGGCAGGGCCGGGAAAGGGTGGTGCAAGATCCAGCTGCGCCCCCAGGCCCCATAGGGGGGCTGGTAAGCAGGAGGCAGGGTTGGGTTCCTGAGCCCCTCACTTCCCCCATTCCTGGAGAGGGGGTGGGGTGGGTATTTGAAAATGCTTTCAATTGACATCTGAGACAAATTCTTCCACAAGGTTTATAAGTCCCTAGACTTGCAGCTAGAACTTCCCTCCTCCCTCCAGGCACGCACACATCCACACATGCGCACTTGCACA... |
Task1_train_25238 | A mutation in TBX4 (T-box transcription factor 4), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Coxopodopatellar syndrome | AGAGGTTGCAGTGAGCCAAGATTGCGGCACTGCAGTCCAGCCTGGGCAACAAGAGTGAGATTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGAAAGAAAGGAAAGAAAAGAAATGCATGAACAAATGAGCAATGTGACAAAAAAAGTTACAGTGGGACATTTTCCTCAGCTTTTTCCCTCTCTCTCATCCTGCAAAACCCAAGTATTTCTAGAAGAGGCAGGTCATGTGTAAGAAGGGTATTGAGAAGAGGTGAGGCTGGAGGGGGACCCCTGAGGGAGGGAGGTTACATGTTATGATCCCATTTACA... | AGAGGTTGCAGTGAGCCAAGATTGCGGCACTGCAGTCCAGCCTGGGCAACAAGAGTGAGATTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGAAAGAAAGGAAAGAAAAGAAATGCATGAACAAATGAGCAATGTGACAAAAAAAGTTACAGTGGGACATTTTCCTCAGCTTTTTCCCTCTCTCTCATCCTGCAAAACCCAAGTATTTCTAGAAGAGGCAGGTCATGTGTAAGAAGGGTATTGAGAAGAGGTGAGGCTGGAGGGGGACCCCTGAGGGAGGGAGGTTACATGTTATGATCCCATTTACA... |
Task1_train_25239 | A variant has been detected on Chromosome 17 in TBX4 (T-box transcription factor 4). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | TTGCAGTGAGCCAAGATTGCGGCACTGCAGTCCAGCCTGGGCAACAAGAGTGAGATTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGAAAGAAAGGAAAGAAAAGAAATGCATGAACAAATGAGCAATGTGACAAAAAAAGTTACAGTGGGACATTTTCCTCAGCTTTTTCCCTCTCTCTCATCCTGCAAAACCCAAGTATTTCTAGAAGAGGCAGGTCATGTGTAAGAAGGGTATTGAGAAGAGGTGAGGCTGGAGGGGGACCCCTGAGGGAGGGAGGTTACATGTTATGATCCCATTTACAAATGT... | TTGCAGTGAGCCAAGATTGCGGCACTGCAGTCCAGCCTGGGCAACAAGAGTGAGATTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGAAAGAAAGGAAAGAAAAGAAATGCATGAACAAATGAGCAATGTGACAAAAAAAGTTACAGTGGGACATTTTCCTCAGCTTTTTCCCTCTCTCTCATCCTGCAAAACCCAAGTATTTCTAGAAGAGGCAGGTCATGTGTAAGAAGGGTATTGAGAAGAGGTGAGGCTGGAGGGGGACCCCTGAGGGAGGGAGGTTACATGTTATGATCCCATTTACAAATGT... |
Task1_train_25240 | This variant impacts the gene TBX4 (T-box transcription factor 4) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Pulmonary hypertension, primary, 1 | AGATCAAACAGTGACTCGGTGGCACCCTGGACTTTTGCTGACAGCTCACAATTCCACCTGCTACACTGTGCTGAGTTCACAGTGGGCTTTGACAGTGTTAAGGGCTGACTCAAGTTCTCCATTACCACAGTGAATCAACTGGTCACATCAAGGAGGGCCTGGAGCTGGGCATTAGTGCTGGTGCAGAGAGGCTAAGTAGGGCTGGGGTGGGGAGAGTTTGGGGCCCAGGGGCCTGGTTCTTCACTTGGGAGCTCCAGTCCTGGTCGGTAGGCCCCGGATCCTGGGCTTTGAGGAGAATGAGAAAAACCAGGCCAGGGCCA... | AGATCAAACAGTGACTCGGTGGCACCCTGGACTTTTGCTGACAGCTCACAATTCCACCTGCTACACTGTGCTGAGTTCACAGTGGGCTTTGACAGTGTTAAGGGCTGACTCAAGTTCTCCATTACCACAGTGAATCAACTGGTCACATCAAGGAGGGCCTGGAGCTGGGCATTAGTGCTGGTGCAGAGAGGCTAAGTAGGGCTGGGGTGGGGAGAGTTTGGGGCCCAGGGGCCTGGTTCTTCACTTGGGAGCTCCAGTCCTGGTCGGTAGGCCCCGGATCCTGGGCTTTGAGGAGAATGAGAAAAACCAGGCCAGGGCCA... |
Task1_train_25241 | Given this variant in gene TBX4 (T-box transcription factor 4) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Coxopodopatellar syndrome | TTTGCAGAAAAAGTTTGCCCAGTCTTGACCTAGAGTGAGTAGGCCACCTGCCAGGATCAAGAGCTTAGCTCAGGGAGAAGAGAGGGATTTGGAGAGAAGACGGAGAATCGGGCTGAGTGAGGGGCAAAGGAGAGAGCTGGGCAAGGGAGAGGAGCAGGTCTCCCTGGGCAGGGCAGATGCCACCAGCAGGGGCAGAGGAGAGAGGTGAGCAGAGGCCTTCACACCCATTTAGCCCCTCTGCTTCCAGCCCCGTGGGTGCACACACAGAGCTCCCCGAATGAATCCCTGGAGAAAACAGGAGGAGGGAGGCCAAGATGAGC... | TTTGCAGAAAAAGTTTGCCCAGTCTTGACCTAGAGTGAGTAGGCCACCTGCCAGGATCAAGAGCTTAGCTCAGGGAGAAGAGAGGGATTTGGAGAGAAGACGGAGAATCGGGCTGAGTGAGGGGCAAAGGAGAGAGCTGGGCAAGGGAGAGGAGCAGGTCTCCCTGGGCAGGGCAGATGCCACCAGCAGGGGCAGAGGAGAGAGGTGAGCAGAGGCCTTCACACCCATTTAGCCCCTCTGCTTCCAGCCCCGTGGGTGCACACACAGAGCTCCCCGAATGAATCCCTGGAGAAAACAGGAGGAGGGAGGCCAAGATGAGC... |
Task1_train_25242 | This alteration occurs within gene BRIP1 (BRCA1 interacting DNA helicase 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Fanconi anemia complementation group J | ATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGT... | ATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGT... |
Task1_train_25243 | This variant affects gene MED13 (mediator complex subunit 13) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Intellectual developmental disorder 61 | AGACTGTGTGCTTCAGGGATGGAAGGGACAGTTGCAGGTTCAACAGAATTAAGGGGTCTGCATGTAGATGGGGTAGAAGCTGGTGAATACAAGTCTGAATTTTCATATTTGACTGAACCTTGAGCACTAGCAGGTCCACCAGCTCCACGAGGAGTCCGAGGAGTCCTTGGAGTCCTTGGAGTTGGAAACCGAGGGGTGGATGGAGAAGGAAGAATTCCTGCTCCGCTGTTACTAGGAGGTGCACTGCTAGGAGGCATCCCAAAAGAAGTATGAGTTTGAGGTGTATAAGCAGTGCCATATTCTTGATCCATATTACTTCC... | AGACTGTGTGCTTCAGGGATGGAAGGGACAGTTGCAGGTTCAACAGAATTAAGGGGTCTGCATGTAGATGGGGTAGAAGCTGGTGAATACAAGTCTGAATTTTCATATTTGACTGAACCTTGAGCACTAGCAGGTCCACCAGCTCCACGAGGAGTCCGAGGAGTCCTTGGAGTCCTTGGAGTTGGAAACCGAGGGGTGGATGGAGAAGGAAGAATTCCTGCTCCGCTGTTACTAGGAGGTGCACTGCTAGGAGGCATCCCAAAAGAAGTATGAGTTTGAGGTGTATAAGCAGTGCCATATTCTTGATCCATATTACTTCC... |
Task1_train_25244 | A mutation on Chromosome 17 affecting MED13 (mediator complex subunit 13) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Intellectual developmental disorder 61 | AAAAAAATCCTGACATATGTTCATGTAAGCTGTTTCAAATAAAGTGGGCATAAGCATTCAGTGGCGTAACAAACTATCACACATAGGCATCAATCGATCGGGAAATAATCTACCTCAAACAACTGCAATTTGTTCTTTGTGTGGCTTCAACAAAATCCCAGGATGCCACTTTAGCAGCTGTCGCTTCTTCGCATAGACCACCTGATGAAGCAGAATACTTCCTCCTAAGATTTAAAGTTACAAAATTCTTTAAAATTCATAAAATTTTCTATCAAACCTCAATGTAGCATTGAAATTAATTTTAAAGATCAACATTATGA... | AAAAAAATCCTGACATATGTTCATGTAAGCTGTTTCAAATAAAGTGGGCATAAGCATTCAGTGGCGTAACAAACTATCACACATAGGCATCAATCGATCGGGAAATAATCTACCTCAAACAACTGCAATTTGTTCTTTGTGTGGCTTCAACAAAATCCCAGGATGCCACTTTAGCAGCTGTCGCTTCTTCGCATAGACCACCTGATGAAGCAGAATACTTCCTCCTAAGATTTAAAGTTACAAAATTCTTTAAAATTCATAAAATTTTCTATCAAACCTCAATGTAGCATTGAAATTAATTTTAAAGATCAACATTATGA... |
Task1_train_25245 | Here’s a variant in TLK2 (tousled like kinase 2) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Intellectual disability | GTGCAGTATTGTGCCAAGCTGTCAGAAGACGTAGTATGCAGTCAGTTTTTGGGACGTGGGCAAACTCTAGATTCTTACTCATTGCCAGCACTCAGGGTTATATAAAATGTTTGCAGTGCGAATTGTGTACCTAGCCAAAATTGCGCCACTGCACTCCAGCCTAGGCAGCAGAGTGAGACGGAGTCTCAAAAAAAAAAAGAGAGAATTGTGTACTTGATCACATTCTGGTTGTTTAGACGTGGATGTGTGGCATGGGTGTGTAAAGGAGCCCCTTCCAAGAAGATACCTAGCTTAAATACATTATAGTTCTTATCAGTATT... | GTGCAGTATTGTGCCAAGCTGTCAGAAGACGTAGTATGCAGTCAGTTTTTGGGACGTGGGCAAACTCTAGATTCTTACTCATTGCCAGCACTCAGGGTTATATAAAATGTTTGCAGTGCGAATTGTGTACCTAGCCAAAATTGCGCCACTGCACTCCAGCCTAGGCAGCAGAGTGAGACGGAGTCTCAAAAAAAAAAAGAGAGAATTGTGTACTTGATCACATTCTGGTTGTTTAGACGTGGATGTGTGGCATGGGTGTGTAAAGGAGCCCCTTCCAAGAAGATACCTAGCTTAAATACATTATAGTTCTTATCAGTATT... |
Task1_train_25246 | Here is a genetic alteration in TLK2 (tousled like kinase 2) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Intellectual disability, autosomal dominant 57 | GTGCAGTATTGTGCCAAGCTGTCAGAAGACGTAGTATGCAGTCAGTTTTTGGGACGTGGGCAAACTCTAGATTCTTACTCATTGCCAGCACTCAGGGTTATATAAAATGTTTGCAGTGCGAATTGTGTACCTAGCCAAAATTGCGCCACTGCACTCCAGCCTAGGCAGCAGAGTGAGACGGAGTCTCAAAAAAAAAAAGAGAGAATTGTGTACTTGATCACATTCTGGTTGTTTAGACGTGGATGTGTGGCATGGGTGTGTAAAGGAGCCCCTTCCAAGAAGATACCTAGCTTAAATACATTATAGTTCTTATCAGTATT... | GTGCAGTATTGTGCCAAGCTGTCAGAAGACGTAGTATGCAGTCAGTTTTTGGGACGTGGGCAAACTCTAGATTCTTACTCATTGCCAGCACTCAGGGTTATATAAAATGTTTGCAGTGCGAATTGTGTACCTAGCCAAAATTGCGCCACTGCACTCCAGCCTAGGCAGCAGAGTGAGACGGAGTCTCAAAAAAAAAAAGAGAGAATTGTGTACTTGATCACATTCTGGTTGTTTAGACGTGGATGTGTGGCATGGGTGTGTAAAGGAGCCCCTTCCAAGAAGATACCTAGCTTAAATACATTATAGTTCTTATCAGTATT... |
Task1_train_25247 | A variant affecting Chromosome 17, within the gene CYB561 (cytochrome b561), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Orthostatic hypotension 2 | CCTGGCCTTGCCCCAGGCATCTGCTGCCAGGAGGGTGGGGCCTCCTCTCTCGCTTCTTTAAAGATCTGTGCTCTGCGACCAGGACCGAACACCCGAAGTCCTACCCAAAGCCTTCTGCACTGAAGGGGGCAACAGAGACACGGGAGCCACACACAATGAACTGGTCTATAGCAGCGGAGAAAGGAGAAGCAGAGGAGGCGGAGACCTGACCCCAGAAAGCAGCACTCAAACAGATGCAGCTGCACCCACGCGCCCGCCTGCTGCCAGAGCCACTCTCCGGAGCCTGCAGTCCTGAAGACGCCTCAGCAGGGGCAGGCAAG... | CCTGGCCTTGCCCCAGGCATCTGCTGCCAGGAGGGTGGGGCCTCCTCTCTCGCTTCTTTAAAGATCTGTGCTCTGCGACCAGGACCGAACACCCGAAGTCCTACCCAAAGCCTTCTGCACTGAAGGGGGCAACAGAGACACGGGAGCCACACACAATGAACTGGTCTATAGCAGCGGAGAAAGGAGAAGCAGAGGAGGCGGAGACCTGACCCCAGAAAGCAGCACTCAAACAGATGCAGCTGCACCCACGCGCCCGCCTGCTGCCAGAGCCACTCTCCGGAGCCTGCAGTCCTGAAGACGCCTCAGCAGGGGCAGGCAAG... |
Task1_train_25248 | Assess the clinical impact of this variant on gene ACE (angiotensin I converting enzyme), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Renal tubular dysgenesis of genetic origin | CCAGGGTCTATAGACATTGTGGAAATGCCTTGGAGTCAGACGGGAGAATGAACCAGCAGAAGCAATGCCCGCCCTCCACCCTCCTGAAGAGGGTTCTCAGGAACTCTTTGGAGGCGAGGCCAGCCTCTGGCTGAGGGCCTCTGGATACAGGTTAGGCCTCAGGCTCTTCTCCTCTCTACTCATCTCTCCTCCCTTGGCCCCTCCTTCAGAGGCTGACAGAGCCCCACTCTCATCTCTTCCCCACCCAAGCCTCTTTCCACAGAAAGACTGCTTCCTCCCAGGAGACAGCAGCTCATTTGCACACAGACACCCACAGCCCT... | CCAGGGTCTATAGACATTGTGGAAATGCCTTGGAGTCAGACGGGAGAATGAACCAGCAGAAGCAATGCCCGCCCTCCACCCTCCTGAAGAGGGTTCTCAGGAACTCTTTGGAGGCGAGGCCAGCCTCTGGCTGAGGGCCTCTGGATACAGGTTAGGCCTCAGGCTCTTCTCCTCTCTACTCATCTCTCCTCCCTTGGCCCCTCCTTCAGAGGCTGACAGAGCCCCACTCTCATCTCTTCCCCACCCAAGCCTCTTTCCACAGAAAGACTGCTTCCTCCCAGGAGACAGCAGCTCATTTGCACACAGACACCCACAGCCCT... |
Task1_train_25249 | A mutation found in ACE (angiotensin I converting enzyme) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Renal tubular dysgenesis of genetic origin | GAGGCTGAGGTGGGCGCATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACAAAAAAAAAATAGCTGGGCTTGGTGGTGCGTGCACCTACAGTCCCAGCTACTCTTGAAACTGAGGGGGAAGGATCACCTGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGTGATTGCACTACTGCACCCCAGCCTGCGTGACAGAGTGAGACCTCCCCCCAAAAAAAAGAGAGAGAGAAAAGGTTGAGAAAGACTGGGAAGTCACCAAAGCCAGAGAATGGGAGGGATCTGCCCTCACTGCAG... | GAGGCTGAGGTGGGCGCATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACAAAAAAAAAATAGCTGGGCTTGGTGGTGCGTGCACCTACAGTCCCAGCTACTCTTGAAACTGAGGGGGAAGGATCACCTGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGTGATTGCACTACTGCACCCCAGCCTGCGTGACAGAGTGAGACCTCCCCCCAAAAAAAAGAGAGAGAGAAAAGGTTGAGAAAGACTGGGAAGTCACCAAAGCCAGAGAATGGGAGGGATCTGCCCTCACTGCAG... |
Task1_train_25250 | The following genetic variant occurs in ACE (angiotensin I converting enzyme) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Microvascular complications of diabetes, susceptibility to, 3 | GAGGCTGAGGTGGGCGCATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACAAAAAAAAAATAGCTGGGCTTGGTGGTGCGTGCACCTACAGTCCCAGCTACTCTTGAAACTGAGGGGGAAGGATCACCTGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGTGATTGCACTACTGCACCCCAGCCTGCGTGACAGAGTGAGACCTCCCCCCAAAAAAAAGAGAGAGAGAAAAGGTTGAGAAAGACTGGGAAGTCACCAAAGCCAGAGAATGGGAGGGATCTGCCCTCACTGCAG... | GAGGCTGAGGTGGGCGCATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACAAAAAAAAAATAGCTGGGCTTGGTGGTGCGTGCACCTACAGTCCCAGCTACTCTTGAAACTGAGGGGGAAGGATCACCTGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGTGATTGCACTACTGCACCCCAGCCTGCGTGACAGAGTGAGACCTCCCCCCAAAAAAAAGAGAGAGAGAAAAGGTTGAGAAAGACTGGGAAGTCACCAAAGCCAGAGAATGGGAGGGATCTGCCCTCACTGCAG... |
Task1_train_25251 | A variant affecting Chromosome 17, within the gene ACE (angiotensin I converting enzyme), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hemorrhage, intracerebral, susceptibility to | GAGGCTGAGGTGGGCGCATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACAAAAAAAAAATAGCTGGGCTTGGTGGTGCGTGCACCTACAGTCCCAGCTACTCTTGAAACTGAGGGGGAAGGATCACCTGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGTGATTGCACTACTGCACCCCAGCCTGCGTGACAGAGTGAGACCTCCCCCCAAAAAAAAGAGAGAGAGAAAAGGTTGAGAAAGACTGGGAAGTCACCAAAGCCAGAGAATGGGAGGGATCTGCCCTCACTGCAG... | GAGGCTGAGGTGGGCGCATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACAAAAAAAAAATAGCTGGGCTTGGTGGTGCGTGCACCTACAGTCCCAGCTACTCTTGAAACTGAGGGGGAAGGATCACCTGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGTGATTGCACTACTGCACCCCAGCCTGCGTGACAGAGTGAGACCTCCCCCCAAAAAAAAGAGAGAGAGAAAAGGTTGAGAAAGACTGGGAAGTCACCAAAGCCAGAGAATGGGAGGGATCTGCCCTCACTGCAG... |
Task1_train_25252 | Mutation context: Chromosome 17, Gene ACE (angiotensin I converting enzyme). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | CCAACAAGACTGCCACCTGCTGGTCCCTGGACCCAGGTACGGCCCTTGCAGCTCCCCTCTCGGCGGTGCCCTAGTGTTCCCACATTGCCCTGCTGCACTCCAGACCATGCAGTTGTGTAGGGTCTGTGGAGACAGCAGGTAAACCCAAAGGTGTTGCCCTCCAACTGGGGCTGGACGGTGCAGATACCCCCACGCCCTGCTTCTCTTGGCAAGTGGACTTCCGGAATCTCCAGCTGCAGCCCCCACTTCTGTGTGTACCTCGGCCTCTCCCATCACCCCTAGGCCTTCCTCCTGGCTGCCTGGTTTCCCCTTTCGTGGGT... | CCAACAAGACTGCCACCTGCTGGTCCCTGGACCCAGGTACGGCCCTTGCAGCTCCCCTCTCGGCGGTGCCCTAGTGTTCCCACATTGCCCTGCTGCACTCCAGACCATGCAGTTGTGTAGGGTCTGTGGAGACAGCAGGTAAACCCAAAGGTGTTGCCCTCCAACTGGGGCTGGACGGTGCAGATACCCCCACGCCCTGCTTCTCTTGGCAAGTGGACTTCCGGAATCTCCAGCTGCAGCCCCCACTTCTGTGTGTACCTCGGCCTCTCCCATCACCCCTAGGCCTTCCTCCTGGCTGCCTGGTTTCCCCTTTCGTGGGT... |
Task1_train_25253 | Given a variant located on Chromosome 17 and affecting ACE (angiotensin I converting enzyme), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Renal tubular dysgenesis of genetic origin | TGCTGGGGCAAGTTACAGTCACAGGCTGGGGTCAGACAGAACTGGGTTCAAACTCCGTCTCCATTACTTTGTTTCCTTGAGAAAATTCCTCAATTTCTGTGAGCTTCCATTTCCTGACCTGTGAACCCCATTTCACAGGATGCACGATGGCTAACTTCTTAGCATTCTGTCTCATACACAGCCTCCTCAGGGAGGGGTGGCCAGGACCCCACTATTCATCACTCTCTAGTGGAATGTAGCTGCACACTAGGTCTGCAGGTCACATGGCCACAGATGAGTGTGCCCAATGCAGCCCCTCTCCTTCTGTGTGCCCCGGGAGA... | TGCTGGGGCAAGTTACAGTCACAGGCTGGGGTCAGACAGAACTGGGTTCAAACTCCGTCTCCATTACTTTGTTTCCTTGAGAAAATTCCTCAATTTCTGTGAGCTTCCATTTCCTGACCTGTGAACCCCATTTCACAGGATGCACGATGGCTAACTTCTTAGCATTCTGTCTCATACACAGCCTCCTCAGGGAGGGGTGGCCAGGACCCCACTATTCATCACTCTCTAGTGGAATGTAGCTGCACACTAGGTCTGCAGGTCACATGGCCACAGATGAGTGTGCCCAATGCAGCCCCTCTCCTTCTGTGTGCCCCGGGAGA... |
Task1_train_25254 | Given this variant in gene ACE (angiotensin I converting enzyme) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hemorrhage, intracerebral, susceptibility to | TGCTGGGGCAAGTTACAGTCACAGGCTGGGGTCAGACAGAACTGGGTTCAAACTCCGTCTCCATTACTTTGTTTCCTTGAGAAAATTCCTCAATTTCTGTGAGCTTCCATTTCCTGACCTGTGAACCCCATTTCACAGGATGCACGATGGCTAACTTCTTAGCATTCTGTCTCATACACAGCCTCCTCAGGGAGGGGTGGCCAGGACCCCACTATTCATCACTCTCTAGTGGAATGTAGCTGCACACTAGGTCTGCAGGTCACATGGCCACAGATGAGTGTGCCCAATGCAGCCCCTCTCCTTCTGTGTGCCCCGGGAGA... | TGCTGGGGCAAGTTACAGTCACAGGCTGGGGTCAGACAGAACTGGGTTCAAACTCCGTCTCCATTACTTTGTTTCCTTGAGAAAATTCCTCAATTTCTGTGAGCTTCCATTTCCTGACCTGTGAACCCCATTTCACAGGATGCACGATGGCTAACTTCTTAGCATTCTGTCTCATACACAGCCTCCTCAGGGAGGGGTGGCCAGGACCCCACTATTCATCACTCTCTAGTGGAATGTAGCTGCACACTAGGTCTGCAGGTCACATGGCCACAGATGAGTGTGCCCAATGCAGCCCCTCTCCTTCTGTGTGCCCCGGGAGA... |
Task1_train_25255 | This mutation occurs in ACE (angiotensin I converting enzyme) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Microvascular complications of diabetes, susceptibility to, 3 | TGCTGGGGCAAGTTACAGTCACAGGCTGGGGTCAGACAGAACTGGGTTCAAACTCCGTCTCCATTACTTTGTTTCCTTGAGAAAATTCCTCAATTTCTGTGAGCTTCCATTTCCTGACCTGTGAACCCCATTTCACAGGATGCACGATGGCTAACTTCTTAGCATTCTGTCTCATACACAGCCTCCTCAGGGAGGGGTGGCCAGGACCCCACTATTCATCACTCTCTAGTGGAATGTAGCTGCACACTAGGTCTGCAGGTCACATGGCCACAGATGAGTGTGCCCAATGCAGCCCCTCTCCTTCTGTGTGCCCCGGGAGA... | TGCTGGGGCAAGTTACAGTCACAGGCTGGGGTCAGACAGAACTGGGTTCAAACTCCGTCTCCATTACTTTGTTTCCTTGAGAAAATTCCTCAATTTCTGTGAGCTTCCATTTCCTGACCTGTGAACCCCATTTCACAGGATGCACGATGGCTAACTTCTTAGCATTCTGTCTCATACACAGCCTCCTCAGGGAGGGGTGGCCAGGACCCCACTATTCATCACTCTCTAGTGGAATGTAGCTGCACACTAGGTCTGCAGGTCACATGGCCACAGATGAGTGTGCCCAATGCAGCCCCTCTCCTTCTGTGTGCCCCGGGAGA... |
Task1_train_25256 | Chromosome 17 houses a mutation in gene MAP3K3 (mitogen-activated protein kinase kinase kinase 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Verrucous hemangioma | GTGGCCTGGGCCCTGTAGAGGGGTAAGGAGTAGGATACAAGGAAATCAGTGCCTTCGGGTGTGGCTTGGCCTTGCAAGCAATTGGGAGCCTGTTGGCCAGCCATACACCTTCCCTTTGGCCAGATCTCCCTGAACCAGACTACTTCCTAATTTCTGCTTTTGTCCTGATTCTTGGAGTGCTTGGGACAGCAGCCTCTGTGGAATGAGTCAGGTGGGAGTGCGGACGGGATGGGCTGGAGCTGGTATTATCTATCACTTCTGGCTGAGACCTGGTTTGTATATTCCGCCTTGTAGCCCGGGGTGTCTCAGACCTGGTTTGT... | GTGGCCTGGGCCCTGTAGAGGGGTAAGGAGTAGGATACAAGGAAATCAGTGCCTTCGGGTGTGGCTTGGCCTTGCAAGCAATTGGGAGCCTGTTGGCCAGCCATACACCTTCCCTTTGGCCAGATCTCCCTGAACCAGACTACTTCCTAATTTCTGCTTTTGTCCTGATTCTTGGAGTGCTTGGGACAGCAGCCTCTGTGGAATGAGTCAGGTGGGAGTGCGGACGGGATGGGCTGGAGCTGGTATTATCTATCACTTCTGGCTGAGACCTGGTTTGTATATTCCGCCTTGTAGCCCGGGGTGTCTCAGACCTGGTTTGT... |
Task1_train_25257 | Here is a genetic alteration in MAP3K3 (mitogen-activated protein kinase kinase kinase 3) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Verrucous venous malformation | GTGGCCTGGGCCCTGTAGAGGGGTAAGGAGTAGGATACAAGGAAATCAGTGCCTTCGGGTGTGGCTTGGCCTTGCAAGCAATTGGGAGCCTGTTGGCCAGCCATACACCTTCCCTTTGGCCAGATCTCCCTGAACCAGACTACTTCCTAATTTCTGCTTTTGTCCTGATTCTTGGAGTGCTTGGGACAGCAGCCTCTGTGGAATGAGTCAGGTGGGAGTGCGGACGGGATGGGCTGGAGCTGGTATTATCTATCACTTCTGGCTGAGACCTGGTTTGTATATTCCGCCTTGTAGCCCGGGGTGTCTCAGACCTGGTTTGT... | GTGGCCTGGGCCCTGTAGAGGGGTAAGGAGTAGGATACAAGGAAATCAGTGCCTTCGGGTGTGGCTTGGCCTTGCAAGCAATTGGGAGCCTGTTGGCCAGCCATACACCTTCCCTTTGGCCAGATCTCCCTGAACCAGACTACTTCCTAATTTCTGCTTTTGTCCTGATTCTTGGAGTGCTTGGGACAGCAGCCTCTGTGGAATGAGTCAGGTGGGAGTGCGGACGGGATGGGCTGGAGCTGGTATTATCTATCACTTCTGGCTGAGACCTGGTTTGTATATTCCGCCTTGTAGCCCGGGGTGTCTCAGACCTGGTTTGT... |
Task1_train_25258 | This sequence change occurs on Chromosome 17, altering STRADA (STE20 related adaptor alpha). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Self-limited epilepsy with centrotemporal spikes | GATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAGAGTGCTGGGACTGTTCAGTGCTCTTGTATGCTCTAGAACACCTCTTGCCCTACCTCCTACGAATGCTTTTAATCTGTACTTCTTATCTGTAGGACTCTTGTAAAGTGTACCTAGGGGTACTGTGTTCCGCATCCCATTCTTCCTTTTTCACTCAGGGCTGTAGTTTCCAGACACATCTGTATTGCTAGCTGTGTACCTTTCATCTTTTCTTCTAATTGTCACCTTGGTTCTGGGAAGAGATCTAACACTTTTACTCA... | GATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAGAGTGCTGGGACTGTTCAGTGCTCTTGTATGCTCTAGAACACCTCTTGCCCTACCTCCTACGAATGCTTTTAATCTGTACTTCTTATCTGTAGGACTCTTGTAAAGTGTACCTAGGGGTACTGTGTTCCGCATCCCATTCTTCCTTTTTCACTCAGGGCTGTAGTTTCCAGACACATCTGTATTGCTAGCTGTGTACCTTTCATCTTTTCTTCTAATTGTCACCTTGGTTCTGGGAAGAGATCTAACACTTTTACTCA... |
Task1_train_25259 | A mutation on Chromosome 17 affecting STRADA (STE20 related adaptor alpha) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Self-limited epilepsy with centrotemporal spikes | ACTGGCTTCTGCTCCATCCTCAGACCCACCAAACTACTATGAACAGATGAACAGGTCCTAGAGCACCATCAGGTAACCACCAATTCAGAAAAAGTTGTAAATGAAGGAGGGGAGGGGCTGCAACTAACTCTACTGAAGGAAAACTGCCCCAGGCCCTGACTCTAAGCTGGCATCAGGAAAGGAGAGTCTAACTCCCAAGCACTTACTAGACTCACAGTCTCTCTCCGTTTTGTTTTGTTTTATTTTTTGAGCCAGGGACTCAGTCTGTCACCCAGGCTGGAGTTTGGTAGTGCAATCTCAAACTCCCGGGCTCAAGCAAT... | ACTGGCTTCTGCTCCATCCTCAGACCCACCAAACTACTATGAACAGATGAACAGGTCCTAGAGCACCATCAGGTAACCACCAATTCAGAAAAAGTTGTAAATGAAGGAGGGGAGGGGCTGCAACTAACTCTACTGAAGGAAAACTGCCCCAGGCCCTGACTCTAAGCTGGCATCAGGAAAGGAGAGTCTAACTCCCAAGCACTTACTAGACTCACAGTCTCTCTCCGTTTTGTTTTGTTTTATTTTTTGAGCCAGGGACTCAGTCTGTCACCCAGGCTGGAGTTTGGTAGTGCAATCTCAAACTCCCGGGCTCAAGCAAT... |
Task1_train_25260 | A variant found in Chromosome 17 affects GH-LCR, GH1 (growth hormone locus control region| growth hormone 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | TGATTTGAGGCGCACACTTCTCACCTGCAGCTCTGTTCTTTCTTCCTTGAGATCAGAGGCTGGTTATTGTACTGGGACATACTCTACCTCCTTTTGGCTTCTAATGTCCTTTCCATGAGTTTGCTACCGAGTCAATTACTTGGCTCATTGGATTGAGGTCTTCAGAGAATATTATATGGGGATTCCCAAGGGCTCTCCTAGGGGAGGTGAGGAAGATGATCAATACTTCTGCGTGTCCACCATGTGCTTGGCACTCTACTGACCATAGGGATGTGAGTGAGGATACTGAGGCTCAAAGAGATGAGGTGGCTTGCCTGGAG... | TGATTTGAGGCGCACACTTCTCACCTGCAGCTCTGTTCTTTCTTCCTTGAGATCAGAGGCTGGTTATTGTACTGGGACATACTCTACCTCCTTTTGGCTTCTAATGTCCTTTCCATGAGTTTGCTACCGAGTCAATTACTTGGCTCATTGGATTGAGGTCTTCAGAGAATATTATATGGGGATTCCCAAGGGCTCTCCTAGGGGAGGTGAGGAAGATGATCAATACTTCTGCGTGTCCACCATGTGCTTGGCACTCTACTGACCATAGGGATGTGAGTGAGGATACTGAGGCTCAAAGAGATGAGGTGGCTTGCCTGGAG... |
Task1_train_25261 | Chromosome 17 houses a mutation in gene GH-LCR, GH1 (growth hormone locus control region| growth hormone 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Short stature due to growth hormone qualitative anomaly | AGGTCCCTACACAGGATGTTCAATGAAGATGGGGGGAATTGAACACAAGGAACTTCAGCCACAGAATGAGGTGTCCATAGGCATTAAGGAAAGTGGTAGAAAAGAAGCACCCAGCGTAGCTCGGGTTAGTGAACCGAGGCACTTCATGCTGCATATTTGTATTGCACGTTTCAGTGTACATCGTGTTTCACTTCCTATATCTCGTTGGACACTTCAGTTTGCCATATGATATGTCCAGGGGGTTCAGGCACGGAGGAAGGGCCTCGGAAGACCTCGGGGGGAGAGGGGCAGGCACTGCTGTGTATTGATGGGGGGATTGT... | AGGTCCCTACACAGGATGTTCAATGAAGATGGGGGGAATTGAACACAAGGAACTTCAGCCACAGAATGAGGTGTCCATAGGCATTAAGGAAAGTGGTAGAAAAGAAGCACCCAGCGTAGCTCGGGTTAGTGAACCGAGGCACTTCATGCTGCATATTTGTATTGCACGTTTCAGTGTACATCGTGTTTCACTTCCTATATCTCGTTGGACACTTCAGTTTGCCATATGATATGTCCAGGGGGTTCAGGCACGGAGGAAGGGCCTCGGAAGACCTCGGGGGGAGAGGGGCAGGCACTGCTGTGTATTGATGGGGGGATTGT... |
Task1_train_25262 | This genomic variant is located on Chromosome 17, within the GH-LCR, GH1 (growth hormone locus control region| growth hormone 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Short stature due to growth hormone qualitative anomaly | GCACCCAGCGTAGCTCGGGTTAGTGAACCGAGGCACTTCATGCTGCATATTTGTATTGCACGTTTCAGTGTACATCGTGTTTCACTTCCTATATCTCGTTGGACACTTCAGTTTGCCATATGATATGTCCAGGGGGTTCAGGCACGGAGGAAGGGCCTCGGAAGACCTCGGGGGGAGAGGGGCAGGCACTGCTGTGTATTGATGGGGGGATTGTTTGCACTGGTTGATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATC... | GCACCCAGCGTAGCTCGGGTTAGTGAACCGAGGCACTTCATGCTGCATATTTGTATTGCACGTTTCAGTGTACATCGTGTTTCACTTCCTATATCTCGTTGGACACTTCAGTTTGCCATATGATATGTCCAGGGGGTTCAGGCACGGAGGAAGGGCCTCGGAAGACCTCGGGGGGAGAGGGGCAGGCACTGCTGTGTATTGATGGGGGGATTGTTTGCACTGGTTGATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATC... |
Task1_train_25263 | Mutation context: Chromosome 17, Gene GH-LCR, GH1 (growth hormone locus control region| growth hormone 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Short stature due to growth hormone qualitative anomaly | GACCTCGGGGGGAGAGGGGCAGGCACTGCTGTGTATTGATGGGGGGATTGTTTGCACTGGTTGATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTC... | GACCTCGGGGGGAGAGGGGCAGGCACTGCTGTGTATTGATGGGGGGATTGTTTGCACTGGTTGATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTC... |
Task1_train_25264 | Given this context: Chromosome 17, gene GH-LCR, GH1 (growth hormone locus control region| growth hormone 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autosomal dominant isolated somatotropin deficiency | TTGATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGC... | TTGATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGC... |
Task1_train_25265 | This variant affects the gene GH-LCR, GH1 (growth hormone locus control region| growth hormone 1) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal dominant isolated somatotropin deficiency | ATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATT... | ATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATT... |
Task1_train_25266 | This alteration occurs within gene GH-LCR, GH1 (growth hormone locus control region| growth hormone 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; GH1-related disorder | TGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTC... | TGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTC... |
Task1_train_25267 | This mutation is located in gene GH-LCR, GH1 (growth hormone locus control region| growth hormone 1) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Autosomal dominant isolated somatotropin deficiency | TGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTC... | TGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTC... |
Task1_train_25268 | Consider this mutation in CD79B, GH-LCR (CD79b molecule| growth hormone locus control region) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Agammaglobulinemia 6, autosomal recessive | TCCCACAGCTGGTGAGCTGGAGGGCCCTAGGGACCATTGTTTGAGGACCCTGGGGCCATAGGGGACCTCCGATATGAGGCTGGGAAAGTCTGAAGGGGTCCCCTGGCTAAGAACCCCAAAGCTTCACCATACAAAGCTCCACTCTTCAGGATCTCACTCTTGATGGCTTTGCATCAAGCTTTCCTAGGCTTCCTGGGAGGTGGGGGTGGGAGTGTTGTAGAGGCAGGGAAACCCCTACCCTCAGGGAGCTTCCAGTTTGCCTGGAGAACCAAGGCCAGTGTGAGTAGCACAAGGCAGTAGCTAAGTCGCCGCTGCATAGG... | TCCCACAGCTGGTGAGCTGGAGGGCCCTAGGGACCATTGTTTGAGGACCCTGGGGCCATAGGGGACCTCCGATATGAGGCTGGGAAAGTCTGAAGGGGTCCCCTGGCTAAGAACCCCAAAGCTTCACCATACAAAGCTCCACTCTTCAGGATCTCACTCTTGATGGCTTTGCATCAAGCTTTCCTAGGCTTCCTGGGAGGTGGGGGTGGGAGTGTTGTAGAGGCAGGGAAACCCCTACCCTCAGGGAGCTTCCAGTTTGCCTGGAGAACCAAGGCCAGTGTGAGTAGCACAAGGCAGTAGCTAAGTCGCCGCTGCATAGG... |
Task1_train_25269 | A variant found in Chromosome 17 affects GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hyperkalemic periodic paralysis | CGCACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAG... | CGCACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAG... |
Task1_train_25270 | 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 | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... |
Task1_train_25271 | The following genetic variant occurs in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hyperkalemic periodic paralysis | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... |
Task1_train_25272 | 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; Hypokalemic periodic paralysis, type 2 | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... |
Task1_train_25273 | 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 | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... |
Task1_train_25274 | 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; Congenital myopathy 22A, classic | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... |
Task1_train_25275 | 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; Congenital myopathy 22B, severe fetal | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... |
Task1_train_25276 | 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; Paramyotonia congenita of Von Eulenburg | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... |
Task1_train_25277 | 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 | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... |
Task1_train_25278 | 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 | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... |
Task1_train_25279 | 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; Hypokalemic periodic paralysis, type 2 | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... |
Task1_train_25280 | 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; Potassium-aggravated myotonia | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... |
Task1_train_25281 | 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 | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... |
Task1_train_25282 | 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; Hypokalemic periodic paralysis, type 1 | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... |
Task1_train_25283 | 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; Congenital myasthenic syndrome 16 | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... | CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGT... |
Task1_train_25284 | 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 2 | ACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAG... | ACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAG... |
Task1_train_25285 | 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; Hyperkalemic periodic paralysis | ACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAG... | ACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAG... |
Task1_train_25286 | 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; Paramyotonia congenita of Von Eulenburg | ACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAG... | ACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAG... |
Task1_train_25287 | 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; Hyperkalemic periodic paralysis | ACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAG... | ACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAG... |
Task1_train_25288 | 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; not provided | GGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACG... | GGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACG... |
Task1_train_25289 | A variant found in Chromosome 17 affects GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hyperkalemic periodic paralysis | GGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAG... | GGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAG... |
Task1_train_25290 | 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; Hyperkalemic periodic paralysis | CTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAG... | CTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAG... |
Task1_train_25291 | 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; Paramyotonia congenita of Von Eulenburg | TGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGA... | TGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGA... |
Task1_train_25292 | 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 | CGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAG... | CGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAG... |
Task1_train_25293 | 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; Delayed gross motor development | CGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAG... | CGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAG... |
Task1_train_25294 | 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; Hyperkalemic periodic paralysis | CGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAG... | CGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAG... |
Task1_train_25295 | 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; Potassium-aggravated myotonia | CGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAG... | CGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAG... |
Task1_train_25296 | A variant has been detected on Chromosome 17 in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hypokalemic periodic paralysis, type 1 | GAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGG... | GAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGG... |
Task1_train_25297 | 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; Hypokalemic periodic paralysis, type 2 | GAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGG... | GAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGG... |
Task1_train_25298 | 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 | GAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGG... | GAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGG... |
Task1_train_25299 | 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; Hyperkalemic periodic paralysis | GAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGG... | GAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGG... |
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