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train · 48.9k rows

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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
Task1_train_13100	This sequence change occurs on Chromosome 9, altering MUSK (muscle associated receptor tyrosine kinase). What is the medical significance of this variant — is it benign or linked to a disease?	Pathogenic; not provided	TTAAAGACATGGCTTGGGCTAGGCATGAGGTTTTCTTATGCCCATCCATCTATGCATCCATCCTTAAATCTATCCATGCATCCACCTATGCATTAATTCATCCATCCACCCATCAACATATATTGAAAACCCATAGTGAGCCATGTGTAGTATTAGACCTGAGGTTACAAGGATGAATAAAATACAGTCTTCCTCTCAATAATTATTATATTTTGAAGTCCCACCTAAGAGTTGGGTTGGAGTAATTACAATATAGAAAACATTTTGAGGTCTTAAATAAATGTATATACATATATAATTGTAAATTATATCTATACACA...	TTAAAGACATGGCTTGGGCTAGGCATGAGGTTTTCTTATGCCCATCCATCTATGCATCCATCCTTAAATCTATCCATGCATCCACCTATGCATTAATTCATCCATCCACCCATCAACATATATTGAAAACCCATAGTGAGCCATGTGTAGTATTAGACCTGAGGTTACAAGGATGAATAAAATACAGTCTTCCTCTCAATAATTATTATATTTTGAAGTCCCACCTAAGAGTTGGGTTGGAGTAATTACAATATAGAAAACATTTTGAGGTCTTAAATAAATGTATATACATATATAATTGTAAATTATATCTATACACA...
Task1_train_13101	With a mutation on Chromosome 9 in gene SHOC1 (shortage in chiasmata 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.	Pathogenic; Spermatogenic failure 75	TTTGTATTTACTACTCTATCTCCCACTGTTGAAAGTTTGAGAATATATCTGTCCATATATTTTTCATGCCAAAGTTGGAGTCAACCTAAATGTTCATTAGTGAGAGAATGATTAAATATATTATGGCAGATTATATTATGCAGCTGCTAAGAAGAATATGTATTCAGTAGTGCTGCTATAATATGACACAGGCATTCCTAAAAATCACCAAGTTATATCAAATCACACAATAACCACCACAGGGCCTATGGGAAAATGGAGTTGGGACTTAATATTAAAAAATTTTGCCAGTGACAGTAAAAAAGACAGAAACCTAATGA...	TTTGTATTTACTACTCTATCTCCCACTGTTGAAAGTTTGAGAATATATCTGTCCATATATTTTTCATGCCAAAGTTGGAGTCAACCTAAATGTTCATTAGTGAGAGAATGATTAAATATATTATGGCAGATTATATTATGCAGCTGCTAAGAAGAATATGTATTCAGTAGTGCTGCTATAATATGACACAGGCATTCCTAAAAATCACCAAGTTATATCAAATCACACAATAACCACCACAGGGCCTATGGGAAAATGGAGTTGGGACTTAATATTAAAAAATTTTGCCAGTGACAGTAAAAAAGACAGAAACCTAATGA...
Task1_train_13102	Here is a genetic alteration in SHOC1 (shortage in chiasmata 1) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease?	Pathogenic; Spermatogenic failure 75	TAAATAGTAATGCCAAAGTATGATTTAGTAACTGCATGTCTTAGAGGAACAGAAAGAATTCAGTCCAAGTATAAAGCTCTCAGTGGTCTCACTTAACTAGGGTAAATTATAGACTACACTACTTAAAGATAAATATTGTTTAAGCCAACCTCCATAAATATTATTTCTTTCTTTTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGCAATCTTGGCTCACTGCAGCCTGTGCCTCGCGGGTTCAAGTGATCCTTCTGCCTCAGCCTCCTGAGTAG...	TAAATAGTAATGCCAAAGTATGATTTAGTAACTGCATGTCTTAGAGGAACAGAAAGAATTCAGTCCAAGTATAAAGCTCTCAGTGGTCTCACTTAACTAGGGTAAATTATAGACTACACTACTTAAAGATAAATATTGTTTAAGCCAACCTCCATAAATATTATTTCTTTCTTTTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGCAATCTTGGCTCACTGCAGCCTGTGCCTCGCGGGTTCAAGTGATCCTTCTGCCTCAGCCTCCTGAGTAG...
Task1_train_13103	A change on Chromosome 9 affects gene SLC31A1 (solute carrier family 31 member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.	Pathogenic; Neurodegeneration and seizures due to copper transport defect	GGCATTCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCCGAGATCTCGCCACTGCATTCCAGCCTGGGCTACAGAGCGAGAATCCGTATCAAAAAAAAAAAAAAAAAAGATAAAAGTTGATGGTGGGGGCCCAGGAGAAAAGTTGATGGTGGGGGCCTAGTAGAATACTCATGCTCGGTGCCTGTGGTGGTAACGCTAACATGAGGGCAAAAGCCTCCCACTCACGTGAATGTCTCTTATTATCCAGATCTTCTACTTTTAAATGTTCTAAGCTTC...	GGCATTCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCCGAGATCTCGCCACTGCATTCCAGCCTGGGCTACAGAGCGAGAATCCGTATCAAAAAAAAAAAAAAAAAAGATAAAAGTTGATGGTGGGGGCCCAGGAGAAAAGTTGATGGTGGGGGCCTAGTAGAATACTCATGCTCGGTGCCTGTGGTGGTAACGCTAACATGAGGGCAAAAGCCTCCCACTCACGTGAATGTCTCTTATTATCCAGATCTTCTACTTTTAAATGTTCTAAGCTTC...
Task1_train_13104	Given a variant located on Chromosome 9 and affecting ALAD (aminolevulinate dehydratase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.	Pathogenic; Porphobilinogen synthase deficiency	TTTACAAACTACAAATTTGATTGAGTCACTCTGAAAAGGTGAATGTGGCCCTTGACCTCTGCATGGTTTGGTCCTGGTCTGTCTCTCTCCACTCAGTTCAGGCCATCCTCTCAGTGCTCCAGACAAGCTAGCCTTGCATTCCTCCAGCTAGAAGGAGCCCCAGGGCCTTTGCACAACTCCTCCCTCTCCCTGGAATGCTCTTCCCCAATTGTCTTAGCTTGATGGCTCACCCTTCAGGTCTAGGCTCAAATGTCAGTCCTTCAGGGAAGTATTTTCTGATCCTTCAAAGAGGTCAGGTCCTGGTGACCTCCTTCAGAGCA...	TTTACAAACTACAAATTTGATTGAGTCACTCTGAAAAGGTGAATGTGGCCCTTGACCTCTGCATGGTTTGGTCCTGGTCTGTCTCTCTCCACTCAGTTCAGGCCATCCTCTCAGTGCTCCAGACAAGCTAGCCTTGCATTCCTCCAGCTAGAAGGAGCCCCAGGGCCTTTGCACAACTCCTCCCTCTCCCTGGAATGCTCTTCCCCAATTGTCTTAGCTTGATGGCTCACCCTTCAGGTCTAGGCTCAAATGTCAGTCCTTCAGGGAAGTATTTTCTGATCCTTCAAAGAGGTCAGGTCCTGGTGACCTCCTTCAGAGCA...
Task1_train_13105	Chromosome 9 houses a mutation in gene KIF12 (kinesin family member 12). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?	Pathogenic; Cholestasis, progressive familial intrahepatic, 8	TGGCCCTGACAGGGCAGGGTGAGGAGGGGGGAGGGTGAGGCAAACAGCTATTTCAAACCAGGGCAGAGGGAGCCCTAGGCCAGCCATTCACTCCCCATGATCTAGCCTGCAGCCCTGGAATCCCTGGGGCTCTGGATTGATGACTCCTGGATCAAGGTCTCCAGTTCTCCCAGCCTTCCCTCACTCCCACCATGGCCTTTCCTACCTGGGGCAGGTGGTGCTCCCCTGGCAGGCAGGCCCAGTGGGCCAGGGGCACTCGACACAGTGGGCAGATGTGGCAGCAGGGGCAGGAGTAGAGGGGTGGCAGTGCCTGCAAAAAG...	TGGCCCTGACAGGGCAGGGTGAGGAGGGGGGAGGGTGAGGCAAACAGCTATTTCAAACCAGGGCAGAGGGAGCCCTAGGCCAGCCATTCACTCCCCATGATCTAGCCTGCAGCCCTGGAATCCCTGGGGCTCTGGATTGATGACTCCTGGATCAAGGTCTCCAGTTCTCCCAGCCTTCCCTCACTCCCACCATGGCCTTTCCTACCTGGGGCAGGTGGTGCTCCCCTGGCAGGCAGGCCCAGTGGGCCAGGGGCACTCGACACAGTGGGCAGATGTGGCAGCAGGGGCAGGAGTAGAGGGGTGGCAGTGCCTGCAAAAAG...
Task1_train_13106	A variant has been detected on Chromosome 9 in COL27A1 (collagen type XXVII alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.	Pathogenic; Steel syndrome	GACACATTCCAGCTGTGAACTGAAGAATGTTTGTGGTTTGGCTAACGATGATTGGAGAAGGGGTTTCTAGGTGTGGGTGACTGCCTGAGCAACAGCCTGGTCGCAGGACAGTGTGGGACATGGCTGGGGCGTGGGCTGTGGTTTGAGGATAGAGCAGAGGGACCCTCTCTGTGGGTTTGGCTGCTGAAAGGAGAGCAGAGTCTAGATAGGGTGCCTGGGACTGGCTGGATTACAGAAGACTTGGGATAGCAGAAGGAGGAACTTGGACTTTGTCACCATGCAGTCAGGGGAAGCTGTGGAAGGTGTTAGAGCAGGGGAGT...	GACACATTCCAGCTGTGAACTGAAGAATGTTTGTGGTTTGGCTAACGATGATTGGAGAAGGGGTTTCTAGGTGTGGGTGACTGCCTGAGCAACAGCCTGGTCGCAGGACAGTGTGGGACATGGCTGGGGCGTGGGCTGTGGTTTGAGGATAGAGCAGAGGGACCCTCTCTGTGGGTTTGGCTGCTGAAAGGAGAGCAGAGTCTAGATAGGGTGCCTGGGACTGGCTGGATTACAGAAGACTTGGGATAGCAGAAGGAGGAACTTGGACTTTGTCACCATGCAGTCAGGGGAAGCTGTGGAAGGTGTTAGAGCAGGGGAGT...
Task1_train_13107	The gene COL27A1 (collagen type XXVII alpha 1 chain) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.	Pathogenic; Steel syndrome	CCCAAAGTTCAGAGGCCAGAGGTGGGAACTCAATGCCTTCAGAAGGTGCCCTGGCTGGACGCCATGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCTTGGGCAACATGGAGAAACCCCATCTTTACCAAAAATACAAAAATTAGCCAGGTGTAGTGGTGTGCATCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGGCAGGATCACTAGGAGGCAGAGGTTGCAGTGAGCAGTTATCACACCACTGCACTTCAGCCTGGATGACAGAGTGAGACC...	CCCAAAGTTCAGAGGCCAGAGGTGGGAACTCAATGCCTTCAGAAGGTGCCCTGGCTGGACGCCATGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCTTGGGCAACATGGAGAAACCCCATCTTTACCAAAAATACAAAAATTAGCCAGGTGTAGTGGTGTGCATCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGGCAGGATCACTAGGAGGCAGAGGTTGCAGTGAGCAGTTATCACACCACTGCACTTCAGCCTGGATGACAGAGTGAGACC...
Task1_train_13108	Located on Chromosome 9, this mutation impacts TNC (tenascin C). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?	Pathogenic; Autosomal dominant nonsyndromic hearing loss 56	CTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATGATCCTGCCTCAGCCTCCCAAGTAGCTGGGATTGCAGGTGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTCAGTAGAGATGGGTTTTTTCACCATGTTGGCTAGGCTGGTCTTGAACACCTGACCTCAGGTGATCCACCTTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCACCTGGCCCCGAGCCTTTTCTGAGCTTTGAGTGGTATTTCTCCTTAGATGGCTTGCAGAGAACATAAAGCCAGGCTCTGGAGGCCGGTGGTCCCGGG...	CTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATGATCCTGCCTCAGCCTCCCAAGTAGCTGGGATTGCAGGTGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTCAGTAGAGATGGGTTTTTTCACCATGTTGGCTAGGCTGGTCTTGAACACCTGACCTCAGGTGATCCACCTTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCACCTGGCCCCGAGCCTTTTCTGAGCTTTGAGTGGTATTTCTCCTTAGATGGCTTGCAGAGAACATAAAGCCAGGCTCTGGAGGCCGGTGGTCCCGGG...
Task1_train_13109	A variant found in Chromosome 9 affects ASTN2, TRIM32 (astrotactin 2\| tripartite motif containing 32). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?	Pathogenic; Bardet-Biedl syndrome	CCCCACTCCATTCCTGCTTTGATCATATCATCTTCCTGCTTCAAAACATTCATCACCTCACCATGCCCTTGAAAATGACGCTCAAAAATCTCATTTTGGCTCTGAAGACCTTTTATAATTATTCCCCCAATTTACCTTTCCAAGTCTGTTACTCTATTCCCCATATATACTCCCACAGTTTTAATCTAAGGATAATAAAAAAGAGAACTAAAATTCATTAAAGGCTTTTTTGGTGCAGAGCCAAATCTTAGCATTCTATACACTCTATATATTATTTCATTCTTACATTAACTCTGTAAAGACAGTATTTTTCCATTTTA...	CCCCACTCCATTCCTGCTTTGATCATATCATCTTCCTGCTTCAAAACATTCATCACCTCACCATGCCCTTGAAAATGACGCTCAAAAATCTCATTTTGGCTCTGAAGACCTTTTATAATTATTCCCCCAATTTACCTTTCCAAGTCTGTTACTCTATTCCCCATATATACTCCCACAGTTTTAATCTAAGGATAATAAAAAAGAGAACTAAAATTCATTAAAGGCTTTTTTGGTGCAGAGCCAAATCTTAGCATTCTATACACTCTATATATTATTTCATTCTTACATTAACTCTGTAAAGACAGTATTTTTCCATTTTA...
Task1_train_13110	Consider a variant on Chromosome 9 in gene ASTN2, TRIM32 (astrotactin 2\| tripartite motif containing 32). Determine its clinical classification and disease relevance.	Pathogenic; Bardet-Biedl syndrome	ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCAC...	ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCAC...
Task1_train_13111	This variant lies on Chromosome 9 and affects the gene ASTN2, TRIM32 (astrotactin 2\| tripartite motif containing 32). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?	Pathogenic; Myopathy	ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCAC...	ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCAC...
Task1_train_13112	Gene ASTN2, TRIM32 (astrotactin 2\| tripartite motif containing 32), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?	Pathogenic; Retinal dystrophy	ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCAC...	ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCAC...
Task1_train_13113	Given this variant in gene ASTN2, TRIM32 (astrotactin 2\| tripartite motif containing 32) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable.	Pathogenic; Sarcotubular myopathy	ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCAC...	ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCAC...
Task1_train_13114	Here is a variant affecting ASTN2, TRIM32 (astrotactin 2\| tripartite motif containing 32) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder.	Pathogenic; Bardet-Biedl syndrome 11	ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCAC...	ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCAC...
Task1_train_13115	This gene mutation involves CDK5RAP2 (CDK5 regulatory subunit associated protein 2) on Chromosome 9. Is it associated with any clinical condition, or is it benign?	Pathogenic; Microcephaly	GATACTGTCTCAAAAACAAAAAGAATAAAGAAATTCATTCTTAAACTACTATTAAAGAAAGATATCATTAAGTAAGGCGAGGCGCAGTGCCTCACGCCTATAATCCAAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGAGAACATGGGGAAACCCCATCTCTACCAAAAGTACAAAAATTAGCCAGGCGTGCTGGCGTGCACATGTAATCCCAGCTAATCAGGAGGCTGAGGACAGGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTAAGCCAAGATTGTGCCACTG...	GATACTGTCTCAAAAACAAAAAGAATAAAGAAATTCATTCTTAAACTACTATTAAAGAAAGATATCATTAAGTAAGGCGAGGCGCAGTGCCTCACGCCTATAATCCAAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGAGAACATGGGGAAACCCCATCTCTACCAAAAGTACAAAAATTAGCCAGGCGTGCTGGCGTGCACATGTAATCCCAGCTAATCAGGAGGCTGAGGACAGGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTAAGCCAAGATTGTGCCACTG...
Task1_train_13116	This variant lies on Chromosome 9 and affects the gene C5 (complement C5). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?	Pathogenic; Complement component 5 deficiency	TCTCTGGGACTAATTTGTCTTGGATGCAAAATTATGGAACTGTTCACTGGACTCATGTGTAAAATCTGCCGCATCTGTTCTGCACACTAGCCAAAACACATGGTCAAGAGTACACATTGTCCTAGAAAATACAACAGGAGAATTCAGCTCACATTAAACTCCAGCACCGTCACTCCAGATGGGAGATTAAGCACAAAGGAAGCTACTCCATCATCAACACGTGTTACACTTTTGCTTGGATCCAAGTCAGATGTCTCTTGGTTTACATCAATTGTTTGTGCATTCAGTGTTACTGGGACTCCTCCTACCAACTGGTCAAG...	TCTCTGGGACTAATTTGTCTTGGATGCAAAATTATGGAACTGTTCACTGGACTCATGTGTAAAATCTGCCGCATCTGTTCTGCACACTAGCCAAAACACATGGTCAAGAGTACACATTGTCCTAGAAAATACAACAGGAGAATTCAGCTCACATTAAACTCCAGCACCGTCACTCCAGATGGGAGATTAAGCACAAAGGAAGCTACTCCATCATCAACACGTGTTACACTTTTGCTTGGATCCAAGTCAGATGTCTCTTGGTTTACATCAATTGTTTGTGCATTCAGTGTTACTGGGACTCCTCCTACCAACTGGTCAAG...
Task1_train_13117	This mutation occurs in GSN (gelsolin) on Chromosome 9. Does this change lead to a known medical condition, or is it benign?	Pathogenic; Finnish type amyloidosis	CTGTGGGCCCCATTTTGCACATCAGTGCGATGCAGCAATGACACCTCCCTTGCAGGCGATGCGTGAAGAATGCCCGGCACAGTGGGCATCATCATTTCACAAACACGTATACTGCTGACACAGGAAGACAGAGCAGGAGCCCAATATACACGGACTCCGTTTGTCCCTTGCCCTCCTCGAGTCTGTGCGGCTAGAATTAGACTTAGCACAGTGGGCTGAGGGGCCCTGGATGGGGTGGCTGCATTGCTGGCCTGAGTGGAAGCCCTCTGCTTCCACCCCCATGTGTCTCCGGAGCAGGGAGACGAGCACCCGATTGGGAG...	CTGTGGGCCCCATTTTGCACATCAGTGCGATGCAGCAATGACACCTCCCTTGCAGGCGATGCGTGAAGAATGCCCGGCACAGTGGGCATCATCATTTCACAAACACGTATACTGCTGACACAGGAAGACAGAGCAGGAGCCCAATATACACGGACTCCGTTTGTCCCTTGCCCTCCTCGAGTCTGTGCGGCTAGAATTAGACTTAGCACAGTGGGCTGAGGGGCCCTGGATGGGGTGGCTGCATTGCTGGCCTGAGTGGAAGCCCTCTGCTTCCACCCCCATGTGTCTCCGGAGCAGGGAGACGAGCACCCGATTGGGAG...
Task1_train_13118	This variant affects the gene GSN (gelsolin) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.	Pathogenic; Finnish type amyloidosis	CCCCATTTTGCACATCAGTGCGATGCAGCAATGACACCTCCCTTGCAGGCGATGCGTGAAGAATGCCCGGCACAGTGGGCATCATCATTTCACAAACACGTATACTGCTGACACAGGAAGACAGAGCAGGAGCCCAATATACACGGACTCCGTTTGTCCCTTGCCCTCCTCGAGTCTGTGCGGCTAGAATTAGACTTAGCACAGTGGGCTGAGGGGCCCTGGATGGGGTGGCTGCATTGCTGGCCTGAGTGGAAGCCCTCTGCTTCCACCCCCATGTGTCTCCGGAGCAGGGAGACGAGCACCCGATTGGGAGGAGGAAA...	CCCCATTTTGCACATCAGTGCGATGCAGCAATGACACCTCCCTTGCAGGCGATGCGTGAAGAATGCCCGGCACAGTGGGCATCATCATTTCACAAACACGTATACTGCTGACACAGGAAGACAGAGCAGGAGCCCAATATACACGGACTCCGTTTGTCCCTTGCCCTCCTCGAGTCTGTGCGGCTAGAATTAGACTTAGCACAGTGGGCTGAGGGGCCCTGGATGGGGTGGCTGCATTGCTGGCCTGAGTGGAAGCCCTCTGCTTCCACCCCCATGTGTCTCCGGAGCAGGGAGACGAGCACCCGATTGGGAGGAGGAAA...
Task1_train_13119	This variant affects gene GSN (gelsolin) located on Chromosome 9. Evaluate its biological effect and specify any disease association.	Pathogenic; Inborn genetic diseases	CCCCATTTTGCACATCAGTGCGATGCAGCAATGACACCTCCCTTGCAGGCGATGCGTGAAGAATGCCCGGCACAGTGGGCATCATCATTTCACAAACACGTATACTGCTGACACAGGAAGACAGAGCAGGAGCCCAATATACACGGACTCCGTTTGTCCCTTGCCCTCCTCGAGTCTGTGCGGCTAGAATTAGACTTAGCACAGTGGGCTGAGGGGCCCTGGATGGGGTGGCTGCATTGCTGGCCTGAGTGGAAGCCCTCTGCTTCCACCCCCATGTGTCTCCGGAGCAGGGAGACGAGCACCCGATTGGGAGGAGGAAA...	CCCCATTTTGCACATCAGTGCGATGCAGCAATGACACCTCCCTTGCAGGCGATGCGTGAAGAATGCCCGGCACAGTGGGCATCATCATTTCACAAACACGTATACTGCTGACACAGGAAGACAGAGCAGGAGCCCAATATACACGGACTCCGTTTGTCCCTTGCCCTCCTCGAGTCTGTGCGGCTAGAATTAGACTTAGCACAGTGGGCTGAGGGGCCCTGGATGGGGTGGCTGCATTGCTGGCCTGAGTGGAAGCCCTCTGCTTCCACCCCCATGTGTCTCCGGAGCAGGGAGACGAGCACCCGATTGGGAGGAGGAAA...
Task1_train_13120	This sequence variant lies in GSN (gelsolin) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?	Pathogenic; Finnish type amyloidosis	TTCCAGGAGGGACTCGCTATGTTCGGAAAGGAGGGAGCTATCCCAGGGGGCTAGTGCTGATGGCATCCCCAGGGAGGGGCCTTGAATGCCAATTTCAAGGGTGTAGACTTGATCCTCTAACCAGTGGGTGCTAGTGAGGGGTTTTTCTTTTTATTAAATCAGACATGCAACAGGCTCAGATTTATGCTTTATCTTTTTTTTTTTTTTTAATAGAGACAGGGTCTCGCTATGTTGCCCGGGCTAATTTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCGGCCCCCCAAAGTGTTGGAATTACAGGCATGAGCCACTGC...	TTCCAGGAGGGACTCGCTATGTTCGGAAAGGAGGGAGCTATCCCAGGGGGCTAGTGCTGATGGCATCCCCAGGGAGGGGCCTTGAATGCCAATTTCAAGGGTGTAGACTTGATCCTCTAACCAGTGGGTGCTAGTGAGGGGTTTTTCTTTTTATTAAATCAGACATGCAACAGGCTCAGATTTATGCTTTATCTTTTTTTTTTTTTTTAATAGAGACAGGGTCTCGCTATGTTGCCCGGGCTAATTTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCGGCCCCCCAAAGTGTTGGAATTACAGGCATGAGCCACTGC...
Task1_train_13121	This mutation is located in gene NDUFA8 (NADH:ubiquinone oxidoreductase subunit A8) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism?	Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 37	AAAAACAAAAAAAATGTTGCCCAGGCTAGTCCTGAACTCGTGAGCTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGCTAGAATTGCAGGTGTGAGCCATGGCACCTGATCGAGAAATACACTTTTGAAAAGAGTTAAGAGAATTTTTTTTTTATCTCACAGAGTTTTAAAAAATGTTAATACAAAGATTCAAGAATAAATATGCTTTCTTACTAGCATGACTTGTTATTTCTTCTTTCATAAGTCAGAAATGAGAAAAGGTAGTTTTATTTGTTACATGTATAAGTTCTACCACTTTCCAATCTAGAATTATCAACT...	AAAAACAAAAAAAATGTTGCCCAGGCTAGTCCTGAACTCGTGAGCTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGCTAGAATTGCAGGTGTGAGCCATGGCACCTGATCGAGAAATACACTTTTGAAAAGAGTTAAGAGAATTTTTTTTTTATCTCACAGAGTTTTAAAAAATGTTAATACAAAGATTCAAGAATAAATATGCTTTCTTACTAGCATGACTTGTTATTTCTTCTTTCATAAGTCAGAAATGAGAAAAGGTAGTTTTATTTGTTACATGTATAAGTTCTACCACTTTCCAATCTAGAATTATCAACT...
Task1_train_13122	A genetic alteration is present in NDUFA8 (NADH:ubiquinone oxidoreductase subunit A8) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved?	Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 37	GGTACTGGGTGCCCTATAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGCGAACCCGGGAGGCGGAGCTTGCAGTAAGCCAAGATCGTGCTACTGCACTCCAGCCTGGGCGACAGAGTGACACCCCATCACAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAATACAGTTCAAGAGCCATAATGATGTTCAAAGCCCTTTATAGAGTAAACTCACTGTTAGGAAATTTATGCCAAGGAATTATTAACTGATGAAAATGATCTATACGCAAAGGTAATCACTGCAGATTTATCCAAAATAATCAAAAACTGAAAT...	GGTACTGGGTGCCCTATAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGCGAACCCGGGAGGCGGAGCTTGCAGTAAGCCAAGATCGTGCTACTGCACTCCAGCCTGGGCGACAGAGTGACACCCCATCACAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAATACAGTTCAAGAGCCATAATGATGTTCAAAGCCCTTTATAGAGTAAACTCACTGTTAGGAAATTTATGCCAAGGAATTATTAACTGATGAAAATGATCTATACGCAAAGGTAATCACTGCAGATTTATCCAAAATAATCAAAAACTGAAAT...
Task1_train_13123	A mutation in CRB2 (crumbs cell polarity complex component 2), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.	Pathogenic; Focal segmental glomerulosclerosis 9	GGCAATGGAGCCGGGGGCTCTGTGGACCTTCCTGGGCCACCTGTGGCTCCTGGCAGGTATGGAGGAATGTGGGCCCTGGGCAGGGGGAGGTTGGTGGGTGGTGGTTCCTAGGAAGAGGCTGTGGTGTTTGTGAGCTGATCGAGGCTGGGCTTCAAACCCTGGTGACTTCTCTGGGCCTGGGTTCCTCCAGCTGGGATGTGGCTCTGGCTGAGCTACAGTGGGCTATGGCTTCTGGACCCAAGCTGGGGCCTGAGCACCTGAAGGGATCCCTAGAGGGAGGATGAGGCAGCCCCTTCACAGCCAGTGTGGGGGCCCTGGGG...	GGCAATGGAGCCGGGGGCTCTGTGGACCTTCCTGGGCCACCTGTGGCTCCTGGCAGGTATGGAGGAATGTGGGCCCTGGGCAGGGGGAGGTTGGTGGGTGGTGGTTCCTAGGAAGAGGCTGTGGTGTTTGTGAGCTGATCGAGGCTGGGCTTCAAACCCTGGTGACTTCTCTGGGCCTGGGTTCCTCCAGCTGGGATGTGGCTCTGGCTGAGCTACAGTGGGCTATGGCTTCTGGACCCAAGCTGGGGCCTGAGCACCTGAAGGGATCCCTAGAGGGAGGATGAGGCAGCCCCTTCACAGCCAGTGTGGGGGCCCTGGGG...
Task1_train_13124	A variant has been detected on Chromosome 9 in CRB2 (crumbs cell polarity complex component 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.	Pathogenic; Ventriculomegaly-cystic kidney disease	CGGGGGCTCTGTGGACCTTCCTGGGCCACCTGTGGCTCCTGGCAGGTATGGAGGAATGTGGGCCCTGGGCAGGGGGAGGTTGGTGGGTGGTGGTTCCTAGGAAGAGGCTGTGGTGTTTGTGAGCTGATCGAGGCTGGGCTTCAAACCCTGGTGACTTCTCTGGGCCTGGGTTCCTCCAGCTGGGATGTGGCTCTGGCTGAGCTACAGTGGGCTATGGCTTCTGGACCCAAGCTGGGGCCTGAGCACCTGAAGGGATCCCTAGAGGGAGGATGAGGCAGCCCCTTCACAGCCAGTGTGGGGGCCCTGGGGCAGAGGGACTG...	CGGGGGCTCTGTGGACCTTCCTGGGCCACCTGTGGCTCCTGGCAGGTATGGAGGAATGTGGGCCCTGGGCAGGGGGAGGTTGGTGGGTGGTGGTTCCTAGGAAGAGGCTGTGGTGTTTGTGAGCTGATCGAGGCTGGGCTTCAAACCCTGGTGACTTCTCTGGGCCTGGGTTCCTCCAGCTGGGATGTGGCTCTGGCTGAGCTACAGTGGGCTATGGCTTCTGGACCCAAGCTGGGGCCTGAGCACCTGAAGGGATCCCTAGAGGGAGGATGAGGCAGCCCCTTCACAGCCAGTGTGGGGGCCCTGGGGCAGAGGGACTG...
Task1_train_13125	The gene NR5A1 (nuclear receptor subfamily 5 group A member 1) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation?	Pathogenic; 46,XY sex reversal 3	GCTCTGAGGGGTCTGGTCTCCCAGGTCTGTGGCTCATGGGCCCTTGGCAAGTGCCTTCCCCTCCTAGAGTATAACCCCTGCCTCACAGGGCTGCTGCGGGGACAGTGAGATGAGGGTGGCACACAGTAGGTGCCCCTTAAATGGCTGCTCCTTCTGCCCCAAGATGGGGGCTGAGCTGGCATGGCCAGCATGCAACAGGCAGAGAGGCTACAGCATCCCCCTGGCCTCCCAGTGCCTCAGGGTCCCAGGGATGAGGTGGGTCCCAAACCCCAACAGTGCCTGGTGTCCCCCCACCCGGCCCCGCCACCCACCTGCCTCCT...	GCTCTGAGGGGTCTGGTCTCCCAGGTCTGTGGCTCATGGGCCCTTGGCAAGTGCCTTCCCCTCCTAGAGTATAACCCCTGCCTCACAGGGCTGCTGCGGGGACAGTGAGATGAGGGTGGCACACAGTAGGTGCCCCTTAAATGGCTGCTCCTTCTGCCCCAAGATGGGGGCTGAGCTGGCATGGCCAGCATGCAACAGGCAGAGAGGCTACAGCATCCCCCTGGCCTCCCAGTGCCTCAGGGTCCCAGGGATGAGGTGGGTCCCAAACCCCAACAGTGCCTGGTGTCCCCCCACCCGGCCCCGCCACCCACCTGCCTCCT...
Task1_train_13126	Mutation context: Chromosome 9, Gene NR5A1 (nuclear receptor subfamily 5 group A member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.	Pathogenic; Disorder of sexual differentiation	GGGCTGCTGCGGGGACAGTGAGATGAGGGTGGCACACAGTAGGTGCCCCTTAAATGGCTGCTCCTTCTGCCCCAAGATGGGGGCTGAGCTGGCATGGCCAGCATGCAACAGGCAGAGAGGCTACAGCATCCCCCTGGCCTCCCAGTGCCTCAGGGTCCCAGGGATGAGGTGGGTCCCAAACCCCAACAGTGCCTGGTGTCCCCCCACCCGGCCCCGCCACCCACCTGCCTCCTCAGAGTTTTGAAGCAAAGAGGGTCTGCGTGCCACCTCCATCCAAGTCAGAGCGCTGCCCCAACCTAGACCACCCGGAATCCACCCGG...	GGGCTGCTGCGGGGACAGTGAGATGAGGGTGGCACACAGTAGGTGCCCCTTAAATGGCTGCTCCTTCTGCCCCAAGATGGGGGCTGAGCTGGCATGGCCAGCATGCAACAGGCAGAGAGGCTACAGCATCCCCCTGGCCTCCCAGTGCCTCAGGGTCCCAGGGATGAGGTGGGTCCCAAACCCCAACAGTGCCTGGTGTCCCCCCACCCGGCCCCGCCACCCACCTGCCTCCTCAGAGTTTTGAAGCAAAGAGGGTCTGCGTGCCACCTCCATCCAAGTCAGAGCGCTGCCCCAACCTAGACCACCCGGAATCCACCCGG...
Task1_train_13127	The gene NR5A1 (nuclear receptor subfamily 5 group A member 1), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change?	Pathogenic; 46,XY sex reversal 3	GACAGTGAGATGAGGGTGGCACACAGTAGGTGCCCCTTAAATGGCTGCTCCTTCTGCCCCAAGATGGGGGCTGAGCTGGCATGGCCAGCATGCAACAGGCAGAGAGGCTACAGCATCCCCCTGGCCTCCCAGTGCCTCAGGGTCCCAGGGATGAGGTGGGTCCCAAACCCCAACAGTGCCTGGTGTCCCCCCACCCGGCCCCGCCACCCACCTGCCTCCTCAGAGTTTTGAAGCAAAGAGGGTCTGCGTGCCACCTCCATCCAAGTCAGAGCGCTGCCCCAACCTAGACCACCCGGAATCCACCCGGGCCGTTCTGCTTT...	GACAGTGAGATGAGGGTGGCACACAGTAGGTGCCCCTTAAATGGCTGCTCCTTCTGCCCCAAGATGGGGGCTGAGCTGGCATGGCCAGCATGCAACAGGCAGAGAGGCTACAGCATCCCCCTGGCCTCCCAGTGCCTCAGGGTCCCAGGGATGAGGTGGGTCCCAAACCCCAACAGTGCCTGGTGTCCCCCCACCCGGCCCCGCCACCCACCTGCCTCCTCAGAGTTTTGAAGCAAAGAGGGTCTGCGTGCCACCTCCATCCAAGTCAGAGCGCTGCCCCAACCTAGACCACCCGGAATCCACCCGGGCCGTTCTGCTTT...
Task1_train_13128	Chromosome 9 houses a mutation in gene NR5A1 (nuclear receptor subfamily 5 group A member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?	Pathogenic; Non-obstructive azoospermia	GCTATGCACAGGGCTTTGGTGGGAAGAGGGGCTGGGGGCCAAGACAATGTCCCTGCCCTTCAGGGGACACCCAAGGACAGACAGAGCCCTGGCAAAGGAGCCTGCTGGCTGATAGCCCACCCTCCACCTACCCCTCCTTAAGGCCCTCCCAGTGGCCTTGTGATGGCAGCCAGGTCAAGAACTCTCACCTTACAAACCACCCGGACTCCCGCGGACACACACTCCAATTCTAGGTGCCTCCAAGCACCACCCTTCCCCACAAATTACTCATGTTCCCAGATCTCCCGGTCCATCCCCAGTCACACACAAACTCTTCACAC...	GCTATGCACAGGGCTTTGGTGGGAAGAGGGGCTGGGGGCCAAGACAATGTCCCTGCCCTTCAGGGGACACCCAAGGACAGACAGAGCCCTGGCAAAGGAGCCTGCTGGCTGATAGCCCACCCTCCACCTACCCCTCCTTAAGGCCCTCCCAGTGGCCTTGTGATGGCAGCCAGGTCAAGAACTCTCACCTTACAAACCACCCGGACTCCCGCGGACACACACTCCAATTCTAGGTGCCTCCAAGCACCACCCTTCCCCACAAATTACTCATGTTCCCAGATCTCCCGGTCCATCCCCAGTCACACACAAACTCTTCACAC...
Task1_train_13129	The gene NR5A1 (nuclear receptor subfamily 5 group A member 1) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?	Pathogenic; Male infertility	GCTATGCACAGGGCTTTGGTGGGAAGAGGGGCTGGGGGCCAAGACAATGTCCCTGCCCTTCAGGGGACACCCAAGGACAGACAGAGCCCTGGCAAAGGAGCCTGCTGGCTGATAGCCCACCCTCCACCTACCCCTCCTTAAGGCCCTCCCAGTGGCCTTGTGATGGCAGCCAGGTCAAGAACTCTCACCTTACAAACCACCCGGACTCCCGCGGACACACACTCCAATTCTAGGTGCCTCCAAGCACCACCCTTCCCCACAAATTACTCATGTTCCCAGATCTCCCGGTCCATCCCCAGTCACACACAAACTCTTCACAC...	GCTATGCACAGGGCTTTGGTGGGAAGAGGGGCTGGGGGCCAAGACAATGTCCCTGCCCTTCAGGGGACACCCAAGGACAGACAGAGCCCTGGCAAAGGAGCCTGCTGGCTGATAGCCCACCCTCCACCTACCCCTCCTTAAGGCCCTCCCAGTGGCCTTGTGATGGCAGCCAGGTCAAGAACTCTCACCTTACAAACCACCCGGACTCCCGCGGACACACACTCCAATTCTAGGTGCCTCCAAGCACCACCCTTCCCCACAAATTACTCATGTTCCCAGATCTCCCGGTCCATCCCCAGTCACACACAAACTCTTCACAC...
Task1_train_13130	Assess the clinical impact of this variant on gene NR5A1 (nuclear receptor subfamily 5 group A member 1), found on Chromosome 9. State whether it’s pathogenic or benign, and the disease if applicable.	Pathogenic; 46,XY sex reversal 3	TGCACAGGGCTTTGGTGGGAAGAGGGGCTGGGGGCCAAGACAATGTCCCTGCCCTTCAGGGGACACCCAAGGACAGACAGAGCCCTGGCAAAGGAGCCTGCTGGCTGATAGCCCACCCTCCACCTACCCCTCCTTAAGGCCCTCCCAGTGGCCTTGTGATGGCAGCCAGGTCAAGAACTCTCACCTTACAAACCACCCGGACTCCCGCGGACACACACTCCAATTCTAGGTGCCTCCAAGCACCACCCTTCCCCACAAATTACTCATGTTCCCAGATCTCCCGGTCCATCCCCAGTCACACACAAACTCTTCACACAGGC...	TGCACAGGGCTTTGGTGGGAAGAGGGGCTGGGGGCCAAGACAATGTCCCTGCCCTTCAGGGGACACCCAAGGACAGACAGAGCCCTGGCAAAGGAGCCTGCTGGCTGATAGCCCACCCTCCACCTACCCCTCCTTAAGGCCCTCCCAGTGGCCTTGTGATGGCAGCCAGGTCAAGAACTCTCACCTTACAAACCACCCGGACTCCCGCGGACACACACTCCAATTCTAGGTGCCTCCAAGCACCACCCTTCCCCACAAATTACTCATGTTCCCAGATCTCCCGGTCCATCCCCAGTCACACACAAACTCTTCACACAGGC...
Task1_train_13131	Located on Chromosome 9, this mutation impacts NR5A1 (nuclear receptor subfamily 5 group A member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?	Pathogenic; 46,XY sex reversal 3	GCCACAGCAGGGCTACCTCTCCAGCCTCACCCACCCTCCCACCCACCCGCCTCTGGCTGTCTCCACCTCTCTGTCACTGGAGCTGCACTCACCCAGGCTGAAGAGGATGATGAACTTGAGGCAGACAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCGCCCGCAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGG...	GCCACAGCAGGGCTACCTCTCCAGCCTCACCCACCCTCCCACCCACCCGCCTCTGGCTGTCTCCACCTCTCTGTCACTGGAGCTGCACTCACCCAGGCTGAAGAGGATGATGAACTTGAGGCAGACAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCGCCCGCAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGG...
Task1_train_13132	This mutation is located in gene NR5A1 (nuclear receptor subfamily 5 group A member 1) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism?	Pathogenic; Premature ovarian failure 7	ATGATGAACTTGAGGCAGACAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCGCCCGCAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGGCTGAGGGCATGGATTGGAGGTGCAGGTCAGATGGGCTGGCGTCAGGAGGGCCCAGCCTTGGTGCCGAGCCAGGCACGGGTAACATCTGCACAGCCCCGGGGACGCT...	ATGATGAACTTGAGGCAGACAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCGCCCGCAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGGCTGAGGGCATGGATTGGAGGTGCAGGTCAGATGGGCTGGCGTCAGGAGGGCCCAGCCTTGGTGCCGAGCCAGGCACGGGTAACATCTGCACAGCCCCGGGGACGCT...
Task1_train_13133	The variant affects gene NR5A1 (nuclear receptor subfamily 5 group A member 1), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.	Pathogenic; 46,XY sex reversal 3	ATGATGAACTTGAGGCAGACAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCGCCCGCAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGGCTGAGGGCATGGATTGGAGGTGCAGGTCAGATGGGCTGGCGTCAGGAGGGCCCAGCCTTGGTGCCGAGCCAGGCACGGGTAACATCTGCACAGCCCCGGGGACGCT...	ATGATGAACTTGAGGCAGACAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCGCCCGCAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGGCTGAGGGCATGGATTGGAGGTGCAGGTCAGATGGGCTGGCGTCAGGAGGGCCCAGCCTTGGTGCCGAGCCAGGCACGGGTAACATCTGCACAGCCCCGGGGACGCT...
Task1_train_13134	The gene NR5A1 (nuclear receptor subfamily 5 group A member 1), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change?	Pathogenic; ADRENAL INSUFFICIENCY, NR5A1-RELATED	CTAGAAGAGACGCCGGAGTCACCCACACCCCTCCCACTTTTCTGTCTCCTCACCTCTGGACTTTGCAAAGAGACACCAGCCCAGGGTCCACTGGACCAGTGGAAAAGAACTTCCACATGGCTTACGAGAGGCGCTCTAAGGGCTGGGCTGGTACTTATCTGCAAGGCCCCTTTAGAGAAGCTGGTGACCACTGCTCATAATCCCGGGCTCAATTCAAAGACTTTGAGAAGGGGAAGCAGGAAGGTTTGGACCACGGAGAAGCCAGAAGCAGGAAAAAACACTCAGCAAAGCTGGGACAAAAGCCCTTCCCATCCTGCGTG...	CTAGAAGAGACGCCGGAGTCACCCACACCCCTCCCACTTTTCTGTCTCCTCACCTCTGGACTTTGCAAAGAGACACCAGCCCAGGGTCCACTGGACCAGTGGAAAAGAACTTCCACATGGCTTACGAGAGGCGCTCTAAGGGCTGGGCTGGTACTTATCTGCAAGGCCCCTTTAGAGAAGCTGGTGACCACTGCTCATAATCCCGGGCTCAATTCAAAGACTTTGAGAAGGGGAAGCAGGAAGGTTTGGACCACGGAGAAGCCAGAAGCAGGAAAAAACACTCAGCAAAGCTGGGACAAAAGCCCTTCCCATCCTGCGTG...
Task1_train_13135	Given this variant in gene NR5A1 (nuclear receptor subfamily 5 group A member 1) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable.	Pathogenic; Spermatogenic failure 8	GCGCTCTAAGGGCTGGGCTGGTACTTATCTGCAAGGCCCCTTTAGAGAAGCTGGTGACCACTGCTCATAATCCCGGGCTCAATTCAAAGACTTTGAGAAGGGGAAGCAGGAAGGTTTGGACCACGGAGAAGCCAGAAGCAGGAAAAAACACTCAGCAAAGCTGGGACAAAAGCCCTTCCCATCCTGCGTGAAAATCCCCGGGAGACTAGGAAGGCAGCCAGAGGAAGTGCCCTGCCCCTCAATCCAGGGTTCTGGAAGGCCGGGAATGCCCTGCTCCTCCTCCCCTCTGCACGGGGGGTGCATGGGAAGTCTGGAGGGAA...	GCGCTCTAAGGGCTGGGCTGGTACTTATCTGCAAGGCCCCTTTAGAGAAGCTGGTGACCACTGCTCATAATCCCGGGCTCAATTCAAAGACTTTGAGAAGGGGAAGCAGGAAGGTTTGGACCACGGAGAAGCCAGAAGCAGGAAAAAACACTCAGCAAAGCTGGGACAAAAGCCCTTCCCATCCTGCGTGAAAATCCCCGGGAGACTAGGAAGGCAGCCAGAGGAAGTGCCCTGCCCCTCAATCCAGGGTTCTGGAAGGCCGGGAATGCCCTGCTCCTCCTCCCCTCTGCACGGGGGGTGCATGGGAAGTCTGGAGGGAA...
Task1_train_13136	A mutation on Chromosome 9 affecting NR5A1 (nuclear receptor subfamily 5 group A member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?	Pathogenic; Spermatogenic failure 8	TCCAGGGTTCTGGAAGGCCGGGAATGCCCTGCTCCTCCTCCCCTCTGCACGGGGGGTGCATGGGAAGTCTGGAGGGAAGCTAGCAACCAACCCAAGATGCTTGGGGTCCTCATCCCCACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCAT...	TCCAGGGTTCTGGAAGGCCGGGAATGCCCTGCTCCTCCTCCCCTCTGCACGGGGGGTGCATGGGAAGTCTGGAGGGAAGCTAGCAACCAACCCAAGATGCTTGGGGTCCTCATCCCCACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCAT...
Task1_train_13137	This genomic variant is located on Chromosome 9, within the NR5A1 (nuclear receptor subfamily 5 group A member 1) gene. Can you determine its pathogenicity and name any linked disease?	Pathogenic; 46,XY sex reversal 3	ACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATG...	ACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATG...
Task1_train_13138	Gene NR5A1 (nuclear receptor subfamily 5 group A member 1) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?	Pathogenic; ADRENAL INSUFFICIENCY, NR5A1-RELATED	ACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATG...	ACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATG...
Task1_train_13139	A variant found in Chromosome 9 affects NR5A1 (nuclear receptor subfamily 5 group A member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?	Pathogenic; 46,XX sex reversal 4	ACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATG...	ACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATG...