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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_2200	This is a variant in GLUL (glutamate-ammonia ligase), located on Chromosome 1. Is this mutation a likely cause of disease or not?	Pathogenic; Congenital brain dysgenesis due to glutamine synthetase deficiency	TTCAACCAGGGTAGCAGGGTAGCTAATATTTGTTTCTTATCACTGAGAGCAGAGAATAGAAATCGTAAAGCCAGTTAATCTTACATTATGTTAGGCTATTGTATTAGGCTAGGAATGGTCAAAACAATGTTATGGTAAGCCAAAACCAAACTCAGGGGAGCAAAGGAAGGGGGAGGAGTGGGGCTTGTACCCTGCTACAAACCTCTAGGCTAGGAAATGCCAAGATTGTGTGTAACTAAGTCTAGGTGAAAAACTTAATCCCTTAAGTCCCAAATACCCAACTTAGAGAGGTACAGGAAACGGCTGGTCAGCAACATCAC...	TTCAACCAGGGTAGCAGGGTAGCTAATATTTGTTTCTTATCACTGAGAGCAGAGAATAGAAATCGTAAAGCCAGTTAATCTTACATTATGTTAGGCTATTGTATTAGGCTAGGAATGGTCAAAACAATGTTATGGTAAGCCAAAACCAAACTCAGGGGAGCAAAGGAAGGGGGAGGAGTGGGGCTTGTACCCTGCTACAAACCTCTAGGCTAGGAAATGCCAAGATTGTGTGTAACTAAGTCTAGGTGAAAAACTTAATCCCTTAAGTCCCAAATACCCAACTTAGAGAGGTACAGGAAACGGCTGGTCAGCAACATCAC...
Task1_train_2201	The variant affects gene GLUL (glutamate-ammonia ligase), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.	Pathogenic; Congenital brain dysgenesis due to glutamine synthetase deficiency	GAGAATAGAAATCGTAAAGCCAGTTAATCTTACATTATGTTAGGCTATTGTATTAGGCTAGGAATGGTCAAAACAATGTTATGGTAAGCCAAAACCAAACTCAGGGGAGCAAAGGAAGGGGGAGGAGTGGGGCTTGTACCCTGCTACAAACCTCTAGGCTAGGAAATGCCAAGATTGTGTGTAACTAAGTCTAGGTGAAAAACTTAATCCCTTAAGTCCCAAATACCCAACTTAGAGAGGTACAGGAAACGGCTGGTCAGCAACATCACTCCAGTGTTTTAAAAACTCAGAGTACATAAACTTGAGCTTATTTTGCCTGT...	GAGAATAGAAATCGTAAAGCCAGTTAATCTTACATTATGTTAGGCTATTGTATTAGGCTAGGAATGGTCAAAACAATGTTATGGTAAGCCAAAACCAAACTCAGGGGAGCAAAGGAAGGGGGAGGAGTGGGGCTTGTACCCTGCTACAAACCTCTAGGCTAGGAAATGCCAAGATTGTGTGTAACTAAGTCTAGGTGAAAAACTTAATCCCTTAAGTCCCAAATACCCAACTTAGAGAGGTACAGGAAACGGCTGGTCAGCAACATCACTCCAGTGTTTTAAAAACTCAGAGTACATAAACTTGAGCTTATTTTGCCTGT...
Task1_train_2202	This sequence change occurs on Chromosome 1, altering GLUL (glutamate-ammonia ligase). What is the medical significance of this variant — is it benign or linked to a disease?	Pathogenic; Congenital brain dysgenesis due to glutamine synthetase deficiency	GAGAATAGAAATCGTAAAGCCAGTTAATCTTACATTATGTTAGGCTATTGTATTAGGCTAGGAATGGTCAAAACAATGTTATGGTAAGCCAAAACCAAACTCAGGGGAGCAAAGGAAGGGGGAGGAGTGGGGCTTGTACCCTGCTACAAACCTCTAGGCTAGGAAATGCCAAGATTGTGTGTAACTAAGTCTAGGTGAAAAACTTAATCCCTTAAGTCCCAAATACCCAACTTAGAGAGGTACAGGAAACGGCTGGTCAGCAACATCACTCCAGTGTTTTAAAAACTCAGAGTACATAAACTTGAGCTTATTTTGCCTGT...	GAGAATAGAAATCGTAAAGCCAGTTAATCTTACATTATGTTAGGCTATTGTATTAGGCTAGGAATGGTCAAAACAATGTTATGGTAAGCCAAAACCAAACTCAGGGGAGCAAAGGAAGGGGGAGGAGTGGGGCTTGTACCCTGCTACAAACCTCTAGGCTAGGAAATGCCAAGATTGTGTGTAACTAAGTCTAGGTGAAAAACTTAATCCCTTAAGTCCCAAATACCCAACTTAGAGAGGTACAGGAAACGGCTGGTCAGCAACATCACTCCAGTGTTTTAAAAACTCAGAGTACATAAACTTGAGCTTATTTTGCCTGT...
Task1_train_2203	This variant affects gene RNASEL (ribonuclease L) located on Chromosome 1. Evaluate its biological effect and specify any disease association.	Pathogenic; Prostate cancer, hereditary, 1	TCATCGCTGAAGCCCTGGCTTGCTCCCCCGCACCATATTGCTTCCTGGGACTTTACGGTCAGCCTTGCTTTTCTTTTAACATTTAAAAGAAAATGCTATTTTCCTTCCCTTTGTTTGGCTTGGACTAGTGGATTCTGACTTGTTCTGCCTTGGAGTCTGTGTCTTCACTACGTCACATCTTGTCCTGACATCCTCAACTTTGACCTCAATTTTGTCAGTAAGTTTCATGGTTACTGCCACCTTGTCTGAAGGAACTCACCTCTAGGATTCTCAGATTTCTGGAGCTACTTTGATCCATGACATGCCTTCATCTGTTTATT...	TCATCGCTGAAGCCCTGGCTTGCTCCCCCGCACCATATTGCTTCCTGGGACTTTACGGTCAGCCTTGCTTTTCTTTTAACATTTAAAAGAAAATGCTATTTTCCTTCCCTTTGTTTGGCTTGGACTAGTGGATTCTGACTTGTTCTGCCTTGGAGTCTGTGTCTTCACTACGTCACATCTTGTCCTGACATCCTCAACTTTGACCTCAATTTTGTCAGTAAGTTTCATGGTTACTGCCACCTTGTCTGAAGGAACTCACCTCTAGGATTCTCAGATTTCTGGAGCTACTTTGATCCATGACATGCCTTCATCTGTTTATT...
Task1_train_2204	A mutation found in LAMC2, LOC126805948 (laminin subunit gamma 2\| MED14-independent group 3 enhancer GRCh37_chr1:183154769-183155968) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?	Pathogenic; not provided	TATAGCAATCTGCACTAAAATGAAATCTTCCTTCAAGACTTTATTTTGTAGGGCCCTGTTCCTTGTTCCTGCAGGACCGTGGTGAATTGCACAACAAAGATGGGACTCAGGGACAGGACCTCAGCCTCCACAAGGCACCAGCGACTAGAAGGGAAAATTCTAAATACCGTCTCTGTGAACTGAAACCTTAGCTGTAGCTGGAGACTCTGAGTTTTGAGAGAGAAGAATATTTGTGTAATTTGTTTGAATCCTGGGCAGAGTAGAAGAGAATCAAGCCTTGGATGAGAAAGTTGGAGTTTCTTTTCTATTCCTCAGGTTTT...	TATAGCAATCTGCACTAAAATGAAATCTTCCTTCAAGACTTTATTTTGTAGGGCCCTGTTCCTTGTTCCTGCAGGACCGTGGTGAATTGCACAACAAAGATGGGACTCAGGGACAGGACCTCAGCCTCCACAAGGCACCAGCGACTAGAAGGGAAAATTCTAAATACCGTCTCTGTGAACTGAAACCTTAGCTGTAGCTGGAGACTCTGAGTTTTGAGAGAGAAGAATATTTGTGTAATTTGTTTGAATCCTGGGCAGAGTAGAAGAGAATCAAGCCTTGGATGAGAAAGTTGGAGTTTCTTTTCTATTCCTCAGGTTTT...
Task1_train_2205	A variant has been detected on Chromosome 1 in LAMC2 (laminin subunit gamma 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.	Pathogenic; Junctional epidermolysis bullosa	ATATAGGCTGGGTGCCCTGGGTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCTGGTGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTAAAATACAAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGTAGGGGAATCGCTTGAACCAGGGAGGCAGAGGTTGCAGTGAGCCAAAAAAAAAAAAAAAAAAAAAGATATACAGATCATGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAG...	ATATAGGCTGGGTGCCCTGGGTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCTGGTGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTAAAATACAAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGTAGGGGAATCGCTTGAACCAGGGAGGCAGAGGTTGCAGTGAGCCAAAAAAAAAAAAAAAAAAAAAGATATACAGATCATGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAG...
Task1_train_2206	Mutation context: Chromosome 1, Gene LAMC2 (laminin subunit gamma 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.	Pathogenic; Epidermolysis bullosa, junctional 3A, intermediate	AAAGCAGAGCACAAGAAGCACTGAGTATGGGCAATGCCACTTTTTATGAAGTTGAGAGCATCCTTAAAAACCTCAGAGGTTAGTACTTCATGGTTCAGGTCACTTGAGTATTTTAAGTGTATAGTCATGACCAATTTCCTTTGAATTCTCATATGTCTCTCTAAGTGGCAGGTATATTGGGATATTAATAGATCCTTAGTAAATATCTTTCTAAAGAAAATCTTAATGCATTAATATTTAATGTAGTAGTAATAATAGAGCTAGATGTCAGAAGCCTTGAGTTCTGATCTCTGCTGGGCCACCTAACCAGGCCAGACTAG...	AAAGCAGAGCACAAGAAGCACTGAGTATGGGCAATGCCACTTTTTATGAAGTTGAGAGCATCCTTAAAAACCTCAGAGGTTAGTACTTCATGGTTCAGGTCACTTGAGTATTTTAAGTGTATAGTCATGACCAATTTCCTTTGAATTCTCATATGTCTCTCTAAGTGGCAGGTATATTGGGATATTAATAGATCCTTAGTAAATATCTTTCTAAAGAAAATCTTAATGCATTAATATTTAATGTAGTAGTAATAATAGAGCTAGATGTCAGAAGCCTTGAGTTCTGATCTCTGCTGGGCCACCTAACCAGGCCAGACTAG...
Task1_train_2207	The gene LAMC2 (laminin subunit gamma 2) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?	Pathogenic; Epidermolysis bullosa, junctional 3B, severe	AAAGCAGAGCACAAGAAGCACTGAGTATGGGCAATGCCACTTTTTATGAAGTTGAGAGCATCCTTAAAAACCTCAGAGGTTAGTACTTCATGGTTCAGGTCACTTGAGTATTTTAAGTGTATAGTCATGACCAATTTCCTTTGAATTCTCATATGTCTCTCTAAGTGGCAGGTATATTGGGATATTAATAGATCCTTAGTAAATATCTTTCTAAAGAAAATCTTAATGCATTAATATTTAATGTAGTAGTAATAATAGAGCTAGATGTCAGAAGCCTTGAGTTCTGATCTCTGCTGGGCCACCTAACCAGGCCAGACTAG...	AAAGCAGAGCACAAGAAGCACTGAGTATGGGCAATGCCACTTTTTATGAAGTTGAGAGCATCCTTAAAAACCTCAGAGGTTAGTACTTCATGGTTCAGGTCACTTGAGTATTTTAAGTGTATAGTCATGACCAATTTCCTTTGAATTCTCATATGTCTCTCTAAGTGGCAGGTATATTGGGATATTAATAGATCCTTAGTAAATATCTTTCTAAAGAAAATCTTAATGCATTAATATTTAATGTAGTAGTAATAATAGAGCTAGATGTCAGAAGCCTTGAGTTCTGATCTCTGCTGGGCCACCTAACCAGGCCAGACTAG...
Task1_train_2208	A variant found in Chromosome 1 affects NCF2 (neutrophil cytosolic factor 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?	Pathogenic; Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	CAGCCCACTAAAACGTGAACTACAAGGAGCATTAATCCAAGAGGATCCCATGCTGATCTCTTTCCCTAACATGTTCTCTTCATATTTATTTTTATTTTTTAGAAACAGAGTCTCAATCTGTTGCCCAAGCTAGAGTACAGTGGTGCAATCATAGCTCACTGTAGCCTTGAACTCCTGGGCTCAAGTGATCCTCTCACCTCAGCCTCTCCACTAGCTAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCCACTTCAGCCTTCCAAAGCACTGGGATTACAGGCATGAGCTACCCTGCCTGGCCCTCTCTTCACATT...	CAGCCCACTAAAACGTGAACTACAAGGAGCATTAATCCAAGAGGATCCCATGCTGATCTCTTTCCCTAACATGTTCTCTTCATATTTATTTTTATTTTTTAGAAACAGAGTCTCAATCTGTTGCCCAAGCTAGAGTACAGTGGTGCAATCATAGCTCACTGTAGCCTTGAACTCCTGGGCTCAAGTGATCCTCTCACCTCAGCCTCTCCACTAGCTAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCCACTTCAGCCTTCCAAAGCACTGGGATTACAGGCATGAGCTACCCTGCCTGGCCCTCTCTTCACATT...
Task1_train_2209	Here is a variant affecting TSEN15 (tRNA splicing endonuclease subunit 15) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.	Pathogenic; Pontocerebellar hypoplasia, type 2F	TTCCCATATAGTTTTCCTTAGTGAACACCACCCCCCAACACACACATACAAACACACCTTCTGATTTAAATAACATTATATCTTCAGAAATGGAAAATGTGTTAAAGTTGTGTTAACAGGCTTCCTTCTTGTCTGTGTCCCATTCTCATCACAGTCTACCAGTTAGGGATGTTTAGAGAAATTTATCTTGTGGCATTGAAGTGGCTTTATGTGCATTATATATTGGGTTTTATGTATATTGCATACTGTGAAGTAATCATGATACATGCTGACAACAAAAGATGTAGATAAGTTAAAATTTTAGTTGATCCATTGTCTGT...	TTCCCATATAGTTTTCCTTAGTGAACACCACCCCCCAACACACACATACAAACACACCTTCTGATTTAAATAACATTATATCTTCAGAAATGGAAAATGTGTTAAAGTTGTGTTAACAGGCTTCCTTCTTGTCTGTGTCCCATTCTCATCACAGTCTACCAGTTAGGGATGTTTAGAGAAATTTATCTTGTGGCATTGAAGTGGCTTTATGTGCATTATATATTGGGTTTTATGTATATTGCATACTGTGAAGTAATCATGATACATGCTGACAACAAAAGATGTAGATAAGTTAAAATTTTAGTTGATCCATTGTCTGT...
Task1_train_2210	A mutation in EDEM3 (ER degradation enhancing alpha-mannosidase like protein 3), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.	Pathogenic; Congenital disorder of glycosylation, type 2v	CTCATTTGTCAGCAGACCATACAGTTAAGTATGTGAAACTAGTTGATCACAAGCTCACTGTGAGCTGAACATAATAAAGCTCCTAAAAAATCTAAAGCACATCTAATAACACAATATGATGAAGAATGGTAGTTCTTAACCTTTCATTTGGCTAAAGACATCTGAGAGGCACAACAATCCCCTCAGGAACAGTGAGTCAATGAAGCAGTGGTCCTCAACTGGATAGAGGGTGGAAACTCATCAGCCTCATAGAACATTAGTGACCCTTTGCCTGAATACAGACAGTTATGGTGCTGTGTGCCAGACACATCTTGAGTATG...	CTCATTTGTCAGCAGACCATACAGTTAAGTATGTGAAACTAGTTGATCACAAGCTCACTGTGAGCTGAACATAATAAAGCTCCTAAAAAATCTAAAGCACATCTAATAACACAATATGATGAAGAATGGTAGTTCTTAACCTTTCATTTGGCTAAAGACATCTGAGAGGCACAACAATCCCCTCAGGAACAGTGAGTCAATGAAGCAGTGGTCCTCAACTGGATAGAGGGTGGAAACTCATCAGCCTCATAGAACATTAGTGACCCTTTGCCTGAATACAGACAGTTATGGTGCTGTGTGCCAGACACATCTTGAGTATG...
Task1_train_2211	The following genetic variant occurs in EDEM3 (ER degradation enhancing alpha-mannosidase like protein 3) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.	Pathogenic; Congenital disorder of glycosylation, type 2v	TGAATATAGAAGAAGTACACAGCAAGAGTCACTCACATTGTAAAATAGTTGAACATTTTAAAATACATATTACAGTGGACACGTATGGTCCCACTGGAAATATATAAGACAATGTTACTTTCAAGAGTTCCCAGTCTTTGAAGCTGAAATCCTTCTCTCTTAAATCTTATTAAGTAGTTAATTGTAGCAGAAAGTTACTCAGTTAGGTCCCAATAGGCACAGGCCAGAAAGTCCTCTGAAAGCTGCCCTCAGTACCTGCACTGTCACAAACCTACTAAGTGTATTCTATAGTTAGAAAAAATGTATTGATATAACTTTCT...	TGAATATAGAAGAAGTACACAGCAAGAGTCACTCACATTGTAAAATAGTTGAACATTTTAAAATACATATTACAGTGGACACGTATGGTCCCACTGGAAATATATAAGACAATGTTACTTTCAAGAGTTCCCAGTCTTTGAAGCTGAAATCCTTCTCTCTTAAATCTTATTAAGTAGTTAATTGTAGCAGAAAGTTACTCAGTTAGGTCCCAATAGGCACAGGCCAGAAAGTCCTCTGAAAGCTGCCCTCAGTACCTGCACTGTCACAAACCTACTAAGTGTATTCTATAGTTAGAAAAAATGTATTGATATAACTTTCT...
Task1_train_2212	This variant affects the gene RNF2 (ring finger protein 2) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.	Pathogenic; Luo-Schoch-Yamamoto syndrome	AAAAACTGGAGACCAATGTGAAATTGAGTTTTCAATTGTGTTTATAAGATGGAGATAGAGGCCGGGCGTGGTGGCTCAGACATGTAATCCCAGCACTTTGGAAGGCCGAGGCCGGTGGATCACCTGAGGTCAGGAGTTTGCGGCCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAAATTAGCCAGGCCTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTTTTTTTTTGAGACAGAGTATCGCTCTGTCACCTAGGCTGGCATGCAGTGGCGTGATCGCGGCTCACTGCAACCTCTA...	AAAAACTGGAGACCAATGTGAAATTGAGTTTTCAATTGTGTTTATAAGATGGAGATAGAGGCCGGGCGTGGTGGCTCAGACATGTAATCCCAGCACTTTGGAAGGCCGAGGCCGGTGGATCACCTGAGGTCAGGAGTTTGCGGCCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAAATTAGCCAGGCCTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTTTTTTTTTGAGACAGAGTATCGCTCTGTCACCTAGGCTGGCATGCAGTGGCGTGATCGCGGCTCACTGCAACCTCTA...
Task1_train_2213	A variant found in Chromosome 1 affects PLA2G4A (phospholipase A2 group IVA). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?	Pathogenic; Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	TTGCTCATTTTGTTGGTTACATTATTAGATGTTTTTCTACAGTTTTTTGAGCTCCTTATATATTCTGGTGATTAATTTCTTGTCAGATGGGTAGTTTGCAAATATTTTCTCCCATTCTGTGGGTTGTCTCTTCATTTTGTTGATTTTTTTTCCTTTGGTGTGCAAAAAAGCTTTTTAATTTGATGTGATCCCATTTGCCCATTTTTGCTTTGGTTGTCTGTGCCTGTGTGGTATTGCTCAAGAAATTTTTGCCCAGACTGTTCTCCTGGAGATTTTCCCCAATGTTTTCTTGTTGTAGTTTTATATTTTGAGATCTTAAC...	TTGCTCATTTTGTTGGTTACATTATTAGATGTTTTTCTACAGTTTTTTGAGCTCCTTATATATTCTGGTGATTAATTTCTTGTCAGATGGGTAGTTTGCAAATATTTTCTCCCATTCTGTGGGTTGTCTCTTCATTTTGTTGATTTTTTTTCCTTTGGTGTGCAAAAAAGCTTTTTAATTTGATGTGATCCCATTTGCCCATTTTTGCTTTGGTTGTCTGTGCCTGTGTGGTATTGCTCAAGAAATTTTTGCCCAGACTGTTCTCCTGGAGATTTTCCCCAATGTTTTCTTGTTGTAGTTTTATATTTTGAGATCTTAAC...
Task1_train_2214	Here is a mutation in PLA2G4A (phospholipase A2 group IVA) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?	Pathogenic; Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	GCAAAGACTTGGAACCAACCCAAATGTCCATTGTGGTAGACAGGATTAAGAAAATGTGGCAAATATATACCATGGAATACTATATAGCCATAAAAAAGGATGGGTTCATGTCCTTTGCAGGAACATGCATGAAGCTGGAAACCATCATTCTCAGCAAACTATCACAAAGACAGAAAACCAAACACCACATATTCTCACTCATAGGTGGGAATTAAACAATAGAACACTTGGACACCGGGTGGGGAACATCACACACCAGGGCCTGTCAGGGTGTGGGGGGCTGGGGGAGGGATAGCATTAGGAGAAATACCTAATATAAA...	GCAAAGACTTGGAACCAACCCAAATGTCCATTGTGGTAGACAGGATTAAGAAAATGTGGCAAATATATACCATGGAATACTATATAGCCATAAAAAAGGATGGGTTCATGTCCTTTGCAGGAACATGCATGAAGCTGGAAACCATCATTCTCAGCAAACTATCACAAAGACAGAAAACCAAACACCACATATTCTCACTCATAGGTGGGAATTAAACAATAGAACACTTGGACACCGGGTGGGGAACATCACACACCAGGGCCTGTCAGGGTGTGGGGGGCTGGGGGAGGGATAGCATTAGGAGAAATACCTAATATAAA...
Task1_train_2215	A variant on Chromosome 1 in gene PLA2G4A (phospholipase A2 group IVA) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?	Pathogenic; Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	ACAGCCAGCCTTTATTATTTAGCCATATTACCTTATCGTTGTCTTTAAAAATAGCTTTATTTTTAGCACATTTGGTTTTATTCAAGACCGTTATTCACAAATTTCCTCTTTGCTTCACCTATTCTGGGCCGTATGAATTGCCTCAGCCATAAAATTTATTCTTCTTTATTTATAAGCATCACTAGTAAGCGTTTGTAACATTTATTTGTTATTCAGTATTTTAGAAATGGGAATTTTTAATAGATGTAAGGAAACAGATGACTTTGTTAACTGTAGAACGTTGGATATTAATGTTTCTTTAAAGTATTAATAACTATGCC...	ACAGCCAGCCTTTATTATTTAGCCATATTACCTTATCGTTGTCTTTAAAAATAGCTTTATTTTTAGCACATTTGGTTTTATTCAAGACCGTTATTCACAAATTTCCTCTTTGCTTCACCTATTCTGGGCCGTATGAATTGCCTCAGCCATAAAATTTATTCTTCTTTATTTATAAGCATCACTAGTAAGCGTTTGTAACATTTATTTGTTATTCAGTATTTTAGAAATGGGAATTTTTAATAGATGTAAGGAAACAGATGACTTTGTTAACTGTAGAACGTTGGATATTAATGTTTCTTTAAAGTATTAATAACTATGCC...
Task1_train_2216	Given this variant in gene CDC73 (cell division cycle 73) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.	Pathogenic; Inborn genetic diseases	ATTATAAGGGTACTTAGATAAAAACAAAAATGATCTACAATTGCTTCTGTAGACACAGGGTCTAGGTATGTTGCCCAGGCTGGTCAGGAAAAAAATGATCTACAAATTTCAATGCTTTAACTGTTAAAAGCAACAACTTACTAATGACTTATCTTACCACTTTTTAAAATTCATTAACCTAAAAAACATAATTTCTCTGAAAAGAGAGACTTTAATCATTATTTGAGTATGAAATAAAATTAAGTATCGTTTGAAGGGACTATAGTCGAGCCTCCTAATCATGAAATCTTGGCTTCCTTGAGCTTATCTTTCCATTCATT...	ATTATAAGGGTACTTAGATAAAAACAAAAATGATCTACAATTGCTTCTGTAGACACAGGGTCTAGGTATGTTGCCCAGGCTGGTCAGGAAAAAAATGATCTACAAATTTCAATGCTTTAACTGTTAAAAGCAACAACTTACTAATGACTTATCTTACCACTTTTTAAAATTCATTAACCTAAAAAACATAATTTCTCTGAAAAGAGAGACTTTAATCATTATTTGAGTATGAAATAAAATTAAGTATCGTTTGAAGGGACTATAGTCGAGCCTCCTAATCATGAAATCTTGGCTTCCTTGAGCTTATCTTTCCATTCATT...
Task1_train_2217	This variant impacts the gene CDC73 (cell division cycle 73) on Chromosome 1. Is the change likely to result in a pathogenic outcome?	Pathogenic; Hyperparathyroidism 2 with jaw tumors	TTATAAGGGTACTTAGATAAAAACAAAAATGATCTACAATTGCTTCTGTAGACACAGGGTCTAGGTATGTTGCCCAGGCTGGTCAGGAAAAAAATGATCTACAAATTTCAATGCTTTAACTGTTAAAAGCAACAACTTACTAATGACTTATCTTACCACTTTTTAAAATTCATTAACCTAAAAAACATAATTTCTCTGAAAAGAGAGACTTTAATCATTATTTGAGTATGAAATAAAATTAAGTATCGTTTGAAGGGACTATAGTCGAGCCTCCTAATCATGAAATCTTGGCTTCCTTGAGCTTATCTTTCCATTCATTA...	TTATAAGGGTACTTAGATAAAAACAAAAATGATCTACAATTGCTTCTGTAGACACAGGGTCTAGGTATGTTGCCCAGGCTGGTCAGGAAAAAAATGATCTACAAATTTCAATGCTTTAACTGTTAAAAGCAACAACTTACTAATGACTTATCTTACCACTTTTTAAAATTCATTAACCTAAAAAACATAATTTCTCTGAAAAGAGAGACTTTAATCATTATTTGAGTATGAAATAAAATTAAGTATCGTTTGAAGGGACTATAGTCGAGCCTCCTAATCATGAAATCTTGGCTTCCTTGAGCTTATCTTTCCATTCATTA...
Task1_train_2218	This variant lies on Chromosome 1 and affects the gene CDC73 (cell division cycle 73). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?	Pathogenic; not provided	TTATAAGGGTACTTAGATAAAAACAAAAATGATCTACAATTGCTTCTGTAGACACAGGGTCTAGGTATGTTGCCCAGGCTGGTCAGGAAAAAAATGATCTACAAATTTCAATGCTTTAACTGTTAAAAGCAACAACTTACTAATGACTTATCTTACCACTTTTTAAAATTCATTAACCTAAAAAACATAATTTCTCTGAAAAGAGAGACTTTAATCATTATTTGAGTATGAAATAAAATTAAGTATCGTTTGAAGGGACTATAGTCGAGCCTCCTAATCATGAAATCTTGGCTTCCTTGAGCTTATCTTTCCATTCATTA...	TTATAAGGGTACTTAGATAAAAACAAAAATGATCTACAATTGCTTCTGTAGACACAGGGTCTAGGTATGTTGCCCAGGCTGGTCAGGAAAAAAATGATCTACAAATTTCAATGCTTTAACTGTTAAAAGCAACAACTTACTAATGACTTATCTTACCACTTTTTAAAATTCATTAACCTAAAAAACATAATTTCTCTGAAAAGAGAGACTTTAATCATTATTTGAGTATGAAATAAAATTAAGTATCGTTTGAAGGGACTATAGTCGAGCCTCCTAATCATGAAATCTTGGCTTCCTTGAGCTTATCTTTCCATTCATTA...
Task1_train_2219	A variant was discovered on Chromosome 1, affecting KCNT2 (potassium sodium-activated channel subfamily T member 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.	Pathogenic; KCNT2-related disorder	ATATTTATACTTCAGGAAACAAAAGAAAAAAATGAAAGTCCCAGACTTCCACATTTCCATTAGCAATCCTTGATAAAATTCTGCAGTATTTTAACTGAGCAGATGATATTGAAATGGTTTCTTTCTTGTTTTATTATATTTTATCTTAAAATTCACTGTTCCATAAAAATATCATTTATGCTCTACCCAAGGGAGAAAAAGCAATCTTTTAATTCAAAGAAAAATTTTCTTGTAGCATTAACATTATTCCATCTGTCTTTCAGCGTAGATACAGAAGGAAACTTAAAATACTGAGTATTCCTCCAGCATTTTTTTTCTAT...	ATATTTATACTTCAGGAAACAAAAGAAAAAAATGAAAGTCCCAGACTTCCACATTTCCATTAGCAATCCTTGATAAAATTCTGCAGTATTTTAACTGAGCAGATGATATTGAAATGGTTTCTTTCTTGTTTTATTATATTTTATCTTAAAATTCACTGTTCCATAAAAATATCATTTATGCTCTACCCAAGGGAGAAAAAGCAATCTTTTAATTCAAAGAAAAATTTTCTTGTAGCATTAACATTATTCCATCTGTCTTTCAGCGTAGATACAGAAGGAAACTTAAAATACTGAGTATTCCTCCAGCATTTTTTTTCTAT...
Task1_train_2220	This gene mutation involves KCNT2 (potassium sodium-activated channel subfamily T member 2) on Chromosome 1. Is it associated with any clinical condition, or is it benign?	Pathogenic; Developmental and epileptic encephalopathy, 57	GAACTTGAATGAAACTTATTCGATTTTATGATGATGATCATAAGTTATGAAGACAGTTTGCTTGTAATGCAGAGAAGAATACACAAAGAAATCAAACCTGTTTATCCATTTGAGTTATTATAATTTAAGAATATATTATGATACATGTGATTAAACAATAAAATTGTATGTAGTTAAACTTAATGTTATGTAATTATTGCACATTAAGGGACATATCCACTACTGGTGACAGTTGTAATATTAGATAACATCTCAAAACCACTACTCGGTTATTTAAAACTAAAACACACACACAAGACACACACAAAACAACAAAACAA...	GAACTTGAATGAAACTTATTCGATTTTATGATGATGATCATAAGTTATGAAGACAGTTTGCTTGTAATGCAGAGAAGAATACACAAAGAAATCAAACCTGTTTATCCATTTGAGTTATTATAATTTAAGAATATATTATGATACATGTGATTAAACAATAAAATTGTATGTAGTTAAACTTAATGTTATGTAATTATTGCACATTAAGGGACATATCCACTACTGGTGACAGTTGTAATATTAGATAACATCTCAAAACCACTACTCGGTTATTTAAAACTAAAACACACACACAAGACACACACAAAACAACAAAACAA...
Task1_train_2221	Here is a variant affecting CFH (complement factor H) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.	Pathogenic; Factor H deficiency	GTCCATACGAAAAGAGGTTTATAATTAAGATAGTAAATAGGAACTCTACTACTTTATATATTTTTAAGGTTATTATATTTTTCTATGAGCATTTAAAAAAGTAATACACAAGTACCTGAAAGTTTAACTATGATGGAAATAATTAAATCTGGATACCATATTATCTCCTTAACATTGAAAAATTTAAATGAAGTATAACTTCTCTGATAGAGTATAATTATGGGAGAGTGGGAAAACAGTATGCACATATATAAGTATTCACCCAACAAGTCTTCACGACATTCTATTTTGTGCAGAGTATCATGGGAGTTCAATGTGTC...	GTCCATACGAAAAGAGGTTTATAATTAAGATAGTAAATAGGAACTCTACTACTTTATATATTTTTAAGGTTATTATATTTTTCTATGAGCATTTAAAAAAGTAATACACAAGTACCTGAAAGTTTAACTATGATGGAAATAATTAAATCTGGATACCATATTATCTCCTTAACATTGAAAAATTTAAATGAAGTATAACTTCTCTGATAGAGTATAATTATGGGAGAGTGGGAAAACAGTATGCACATATATAAGTATTCACCCAACAAGTCTTCACGACATTCTATTTTGTGCAGAGTATCATGGGAGTTCAATGTGTC...
Task1_train_2222	This alteration in CFH (complement factor H) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?	Pathogenic; Factor H deficiency	TCATGGAAAACATTAATACCATTTTGTTATTGAAAGTACTAGATAATCTACAAATAATCCCATGAAAAGAGCAAATTTTCTGAAAAATATATAAACCTGTTAATATAATAAACAAGATAGCACTCAAATGTATTTGTCAAAATTAATATATAATAACTCAGTAAAATGTAATTATATTGTACCTTACTTAAATATATTTTATGACATCAAAATTATTTTTCTCTCCAATTAAAATTAGAAATAAACAAAAAAGTTAATCAAAATCTTAACTATTTGGATATGAAGAAATATTTCTAGTCTGTTTCTCTGGTTAAATACAG...	TCATGGAAAACATTAATACCATTTTGTTATTGAAAGTACTAGATAATCTACAAATAATCCCATGAAAAGAGCAAATTTTCTGAAAAATATATAAACCTGTTAATATAATAAACAAGATAGCACTCAAATGTATTTGTCAAAATTAATATATAATAACTCAGTAAAATGTAATTATATTGTACCTTACTTAAATATATTTTATGACATCAAAATTATTTTTCTCTCCAATTAAAATTAGAAATAAACAAAAAAGTTAATCAAAATCTTAACTATTTGGATATGAAGAAATATTTCTAGTCTGTTTCTCTGGTTAAATACAG...
Task1_train_2223	Consider this mutation in CFH (complement factor H) on Chromosome 1. Is this a benign change or a disease-causing variant?	Pathogenic; Factor H deficiency	CAGTTACAAATGACTCATTATTTTTTATATTTACATATTACTTAAATTCTTATAAAATGTTATTGATCATATGCTTGTCTTTTTCTTATTCTCTTCCCTTTTAGAAACATGTTCCAAATCAAGTATAGATATTGAGAATGGGTTTATTTCTGAATCTCAGTATACATATGCCTTAAAAGAAAAAGCGAAATATCAATGCAAACTAGGATATGTAACAGCAGATGGTGAAACATCAGGATCAATTACATGTGGGAAAGATGGATGGTCAGCTCAACCCACGTGCATTAGTAAGTAATTTATTATGTTTGTATTGATTATCC...	CAGTTACAAATGACTCATTATTTTTTATATTTACATATTACTTAAATTCTTATAAAATGTTATTGATCATATGCTTGTCTTTTTCTTATTCTCTTCCCTTTTAGAAACATGTTCCAAATCAAGTATAGATATTGAGAATGGGTTTATTTCTGAATCTCAGTATACATATGCCTTAAAAGAAAAAGCGAAATATCAATGCAAACTAGGATATGTAACAGCAGATGGTGAAACATCAGGATCAATTACATGTGGGAAAGATGGATGGTCAGCTCAACCCACGTGCATTAGTAAGTAATTTATTATGTTTGTATTGATTATCC...
Task1_train_2224	A mutation found in CFH (complement factor H) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?	Pathogenic; Factor H deficiency	TGGCTTTGTCCCCCTCCTGGTTGCTTTCATGGGCTGGCATTGAGTGTCTGTGGCTTTTCCAGGAACATAGTGCAAGCTATTGATGGATCTACCATTCTGGGGCTTCAATGATTGTGGTCCTGTTCTCACAGCTCCACAAGGCAGTGCCTCAGTGGGGACTCTATGTGAGGGCTCTGACCCCACATTTCCTTTCCTCAATGGCCTAGCAGAGGTTCTCCATGTGGGCTCCCCCCTGCAGCAAACTTCTGCCTGGACATCCAGGTATTTTCATATATCCTCTGCAACCTAGTTGTAGGTTCCCAAACCTCAATTCTTGACTT...	TGGCTTTGTCCCCCTCCTGGTTGCTTTCATGGGCTGGCATTGAGTGTCTGTGGCTTTTCCAGGAACATAGTGCAAGCTATTGATGGATCTACCATTCTGGGGCTTCAATGATTGTGGTCCTGTTCTCACAGCTCCACAAGGCAGTGCCTCAGTGGGGACTCTATGTGAGGGCTCTGACCCCACATTTCCTTTCCTCAATGGCCTAGCAGAGGTTCTCCATGTGGGCTCCCCCCTGCAGCAAACTTCTGCCTGGACATCCAGGTATTTTCATATATCCTCTGCAACCTAGTTGTAGGTTCCCAAACCTCAATTCTTGACTT...
Task1_train_2225	The gene CFH (complement factor H) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?	Pathogenic; Hemolytic uremic syndrome, atypical, susceptibility to, 1	AGCTATTGATGGATCTACCATTCTGGGGCTTCAATGATTGTGGTCCTGTTCTCACAGCTCCACAAGGCAGTGCCTCAGTGGGGACTCTATGTGAGGGCTCTGACCCCACATTTCCTTTCCTCAATGGCCTAGCAGAGGTTCTCCATGTGGGCTCCCCCCTGCAGCAAACTTCTGCCTGGACATCCAGGTATTTTCATATATCCTCTGCAACCTAGTTGTAGGTTCCCAAACCTCAATTCTTGACTTGTGTGCACCCACAGGCCCAAGACTACATGTAATCCACCAAGGCTTGGGGTTTCACCCTTTGAGGCAATGGACCA...	AGCTATTGATGGATCTACCATTCTGGGGCTTCAATGATTGTGGTCCTGTTCTCACAGCTCCACAAGGCAGTGCCTCAGTGGGGACTCTATGTGAGGGCTCTGACCCCACATTTCCTTTCCTCAATGGCCTAGCAGAGGTTCTCCATGTGGGCTCCCCCCTGCAGCAAACTTCTGCCTGGACATCCAGGTATTTTCATATATCCTCTGCAACCTAGTTGTAGGTTCCCAAACCTCAATTCTTGACTTGTGTGCACCCACAGGCCCAAGACTACATGTAATCCACCAAGGCTTGGGGTTTCACCCTTTGAGGCAATGGACCA...
Task1_train_2226	A mutation found in CFH (complement factor H) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?	Pathogenic; Hemolytic uremic syndrome, atypical, susceptibility to, 1	TATAAATTCCAATGTTTTTATCCTCTTTGGAGTTCACTCAGCTTCTTAAATATAAGTTTATACCTTATGGTCAAAATGGGAAGTTTTCAGGCATCATTTTATTTATTCATTTTTCCAGCCCAATATCCTTTCTCTTCTTTTTCTGCATCGGCATTATTTGTTGTTGTATTTTTCTGAATGTCTCAGTTCAGTTTTTTGTTTTCAGTTTATTTTCAGAGTGGGTAATTTATATTGCTGTATGTTCAAGTTCATGGATTTATTTGTCTGTCAGCTCCCCATGTATTATTAAGTATATTCAGTGTTTTTAAAAAATTTTTGTC...	TATAAATTCCAATGTTTTTATCCTCTTTGGAGTTCACTCAGCTTCTTAAATATAAGTTTATACCTTATGGTCAAAATGGGAAGTTTTCAGGCATCATTTTATTTATTCATTTTTCCAGCCCAATATCCTTTCTCTTCTTTTTCTGCATCGGCATTATTTGTTGTTGTATTTTTCTGAATGTCTCAGTTCAGTTTTTTGTTTTCAGTTTATTTTCAGAGTGGGTAATTTATATTGCTGTATGTTCAAGTTCATGGATTTATTTGTCTGTCAGCTCCCCATGTATTATTAAGTATATTCAGTGTTTTTAAAAAATTTTTGTC...
Task1_train_2227	With a mutation on Chromosome 1 in gene CFH (complement factor H), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.	Pathogenic; Factor H deficiency	TATAAATTCCAATGTTTTTATCCTCTTTGGAGTTCACTCAGCTTCTTAAATATAAGTTTATACCTTATGGTCAAAATGGGAAGTTTTCAGGCATCATTTTATTTATTCATTTTTCCAGCCCAATATCCTTTCTCTTCTTTTTCTGCATCGGCATTATTTGTTGTTGTATTTTTCTGAATGTCTCAGTTCAGTTTTTTGTTTTCAGTTTATTTTCAGAGTGGGTAATTTATATTGCTGTATGTTCAAGTTCATGGATTTATTTGTCTGTCAGCTCCCCATGTATTATTAAGTATATTCAGTGTTTTTAAAAAATTTTTGTC...	TATAAATTCCAATGTTTTTATCCTCTTTGGAGTTCACTCAGCTTCTTAAATATAAGTTTATACCTTATGGTCAAAATGGGAAGTTTTCAGGCATCATTTTATTTATTCATTTTTCCAGCCCAATATCCTTTCTCTTCTTTTTCTGCATCGGCATTATTTGTTGTTGTATTTTTCTGAATGTCTCAGTTCAGTTTTTTGTTTTCAGTTTATTTTCAGAGTGGGTAATTTATATTGCTGTATGTTCAAGTTCATGGATTTATTTGTCTGTCAGCTCCCCATGTATTATTAAGTATATTCAGTGTTTTTAAAAAATTTTTGTC...
Task1_train_2228	This variant impacts the gene CFH (complement factor H) on Chromosome 1. Is the change likely to result in a pathogenic outcome?	Pathogenic; CFH-related disorder	TATAAATTCCAATGTTTTTATCCTCTTTGGAGTTCACTCAGCTTCTTAAATATAAGTTTATACCTTATGGTCAAAATGGGAAGTTTTCAGGCATCATTTTATTTATTCATTTTTCCAGCCCAATATCCTTTCTCTTCTTTTTCTGCATCGGCATTATTTGTTGTTGTATTTTTCTGAATGTCTCAGTTCAGTTTTTTGTTTTCAGTTTATTTTCAGAGTGGGTAATTTATATTGCTGTATGTTCAAGTTCATGGATTTATTTGTCTGTCAGCTCCCCATGTATTATTAAGTATATTCAGTGTTTTTAAAAAATTTTTGTC...	TATAAATTCCAATGTTTTTATCCTCTTTGGAGTTCACTCAGCTTCTTAAATATAAGTTTATACCTTATGGTCAAAATGGGAAGTTTTCAGGCATCATTTTATTTATTCATTTTTCCAGCCCAATATCCTTTCTCTTCTTTTTCTGCATCGGCATTATTTGTTGTTGTATTTTTCTGAATGTCTCAGTTCAGTTTTTTGTTTTCAGTTTATTTTCAGAGTGGGTAATTTATATTGCTGTATGTTCAAGTTCATGGATTTATTTGTCTGTCAGCTCCCCATGTATTATTAAGTATATTCAGTGTTTTTAAAAAATTTTTGTC...
Task1_train_2229	A mutation on Chromosome 1 affecting CFH (complement factor H) has been found. Is it harmful or harmless? What disease, if any, does it cause?	Pathogenic; Basal laminar drusen	TATAAATTCCAATGTTTTTATCCTCTTTGGAGTTCACTCAGCTTCTTAAATATAAGTTTATACCTTATGGTCAAAATGGGAAGTTTTCAGGCATCATTTTATTTATTCATTTTTCCAGCCCAATATCCTTTCTCTTCTTTTTCTGCATCGGCATTATTTGTTGTTGTATTTTTCTGAATGTCTCAGTTCAGTTTTTTGTTTTCAGTTTATTTTCAGAGTGGGTAATTTATATTGCTGTATGTTCAAGTTCATGGATTTATTTGTCTGTCAGCTCCCCATGTATTATTAAGTATATTCAGTGTTTTTAAAAAATTTTTGTC...	TATAAATTCCAATGTTTTTATCCTCTTTGGAGTTCACTCAGCTTCTTAAATATAAGTTTATACCTTATGGTCAAAATGGGAAGTTTTCAGGCATCATTTTATTTATTCATTTTTCCAGCCCAATATCCTTTCTCTTCTTTTTCTGCATCGGCATTATTTGTTGTTGTATTTTTCTGAATGTCTCAGTTCAGTTTTTTGTTTTCAGTTTATTTTCAGAGTGGGTAATTTATATTGCTGTATGTTCAAGTTCATGGATTTATTTGTCTGTCAGCTCCCCATGTATTATTAAGTATATTCAGTGTTTTTAAAAAATTTTTGTC...
Task1_train_2230	This sequence variant lies in CFH (complement factor H) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?	Pathogenic; Hemolytic uremic syndrome, atypical, susceptibility to, 1	TATAAATTCCAATGTTTTTATCCTCTTTGGAGTTCACTCAGCTTCTTAAATATAAGTTTATACCTTATGGTCAAAATGGGAAGTTTTCAGGCATCATTTTATTTATTCATTTTTCCAGCCCAATATCCTTTCTCTTCTTTTTCTGCATCGGCATTATTTGTTGTTGTATTTTTCTGAATGTCTCAGTTCAGTTTTTTGTTTTCAGTTTATTTTCAGAGTGGGTAATTTATATTGCTGTATGTTCAAGTTCATGGATTTATTTGTCTGTCAGCTCCCCATGTATTATTAAGTATATTCAGTGTTTTTAAAAAATTTTTGTC...	TATAAATTCCAATGTTTTTATCCTCTTTGGAGTTCACTCAGCTTCTTAAATATAAGTTTATACCTTATGGTCAAAATGGGAAGTTTTCAGGCATCATTTTATTTATTCATTTTTCCAGCCCAATATCCTTTCTCTTCTTTTTCTGCATCGGCATTATTTGTTGTTGTATTTTTCTGAATGTCTCAGTTCAGTTTTTTGTTTTCAGTTTATTTTCAGAGTGGGTAATTTATATTGCTGTATGTTCAAGTTCATGGATTTATTTGTCTGTCAGCTCCCCATGTATTATTAAGTATATTCAGTGTTTTTAAAAAATTTTTGTC...
Task1_train_2231	A sequence alteration has been identified in CFH (complement factor H) on Chromosome 1. Is it disease-inducing or harmless?	Pathogenic; Age related macular degeneration 4	TATAAATTCCAATGTTTTTATCCTCTTTGGAGTTCACTCAGCTTCTTAAATATAAGTTTATACCTTATGGTCAAAATGGGAAGTTTTCAGGCATCATTTTATTTATTCATTTTTCCAGCCCAATATCCTTTCTCTTCTTTTTCTGCATCGGCATTATTTGTTGTTGTATTTTTCTGAATGTCTCAGTTCAGTTTTTTGTTTTCAGTTTATTTTCAGAGTGGGTAATTTATATTGCTGTATGTTCAAGTTCATGGATTTATTTGTCTGTCAGCTCCCCATGTATTATTAAGTATATTCAGTGTTTTTAAAAAATTTTTGTC...	TATAAATTCCAATGTTTTTATCCTCTTTGGAGTTCACTCAGCTTCTTAAATATAAGTTTATACCTTATGGTCAAAATGGGAAGTTTTCAGGCATCATTTTATTTATTCATTTTTCCAGCCCAATATCCTTTCTCTTCTTTTTCTGCATCGGCATTATTTGTTGTTGTATTTTTCTGAATGTCTCAGTTCAGTTTTTTGTTTTCAGTTTATTTTCAGAGTGGGTAATTTATATTGCTGTATGTTCAAGTTCATGGATTTATTTGTCTGTCAGCTCCCCATGTATTATTAAGTATATTCAGTGTTTTTAAAAAATTTTTGTC...
Task1_train_2232	A genomic change on Chromosome 1 affects CFH (complement factor H). Classify this variant as benign or pathogenic, and name the disease if relevant.	Pathogenic; Factor H deficiency	TATAAATTCCAATGTTTTTATCCTCTTTGGAGTTCACTCAGCTTCTTAAATATAAGTTTATACCTTATGGTCAAAATGGGAAGTTTTCAGGCATCATTTTATTTATTCATTTTTCCAGCCCAATATCCTTTCTCTTCTTTTTCTGCATCGGCATTATTTGTTGTTGTATTTTTCTGAATGTCTCAGTTCAGTTTTTTGTTTTCAGTTTATTTTCAGAGTGGGTAATTTATATTGCTGTATGTTCAAGTTCATGGATTTATTTGTCTGTCAGCTCCCCATGTATTATTAAGTATATTCAGTGTTTTTAAAAAATTTTTGTC...	TATAAATTCCAATGTTTTTATCCTCTTTGGAGTTCACTCAGCTTCTTAAATATAAGTTTATACCTTATGGTCAAAATGGGAAGTTTTCAGGCATCATTTTATTTATTCATTTTTCCAGCCCAATATCCTTTCTCTTCTTTTTCTGCATCGGCATTATTTGTTGTTGTATTTTTCTGAATGTCTCAGTTCAGTTTTTTGTTTTCAGTTTATTTTCAGAGTGGGTAATTTATATTGCTGTATGTTCAAGTTCATGGATTTATTTGTCTGTCAGCTCCCCATGTATTATTAAGTATATTCAGTGTTTTTAAAAAATTTTTGTC...
Task1_train_2233	This gene mutation involves CFH (complement factor H) on Chromosome 1. Is it associated with any clinical condition, or is it benign?	Pathogenic; not provided	ATTCATTTTTCCAGCCCAATATCCTTTCTCTTCTTTTTCTGCATCGGCATTATTTGTTGTTGTATTTTTCTGAATGTCTCAGTTCAGTTTTTTGTTTTCAGTTTATTTTCAGAGTGGGTAATTTATATTGCTGTATGTTCAAGTTCATGGATTTATTTGTCTGTCAGCTCCCCATGTATTATTAAGTATATTCAGTGTTTTTAAAAAATTTTTGTCATACTTTTCCATTTTATAATTCCTATGGGATTTTTCGAATATGAAATAAGAAACTTCCTTTGTCATAGTTTTCTATGTTTAGCATGTATTCATTCGGAAAGACA...	ATTCATTTTTCCAGCCCAATATCCTTTCTCTTCTTTTTCTGCATCGGCATTATTTGTTGTTGTATTTTTCTGAATGTCTCAGTTCAGTTTTTTGTTTTCAGTTTATTTTCAGAGTGGGTAATTTATATTGCTGTATGTTCAAGTTCATGGATTTATTTGTCTGTCAGCTCCCCATGTATTATTAAGTATATTCAGTGTTTTTAAAAAATTTTTGTCATACTTTTCCATTTTATAATTCCTATGGGATTTTTCGAATATGAAATAAGAAACTTCCTTTGTCATAGTTTTCTATGTTTAGCATGTATTCATTCGGAAAGACA...
Task1_train_2234	This variant impacts the gene F13B (coagulation factor XIII B chain) on Chromosome 1. Is the change likely to result in a pathogenic outcome?	Pathogenic; Cholesteatoma	ATGACAGCAAATTAAAAATATATAGTTTTACTTTGTTAGAGGCATATTTAGTAGTACATACCTAAACACAATGGTGGTGTAGTCCACATTCCATCTAAACAATAGGCCTCCCTAGATCCTTCTAGGAAATGGTGATCAAAACATCTGTATTCTACTGAAGAGCCATTTTCATAGGTGTCTACTGTTGAACTAATAATGACTCCATGTTTAATAAGAGGAGGAGATGTGCACATTCCTTTAGATTCTGCAAAAATAAGTTTTAAAGTATACAATGAATTGCTATAATGAACATCCAGTACTTTATAAGTGCTACAGAGACA...	ATGACAGCAAATTAAAAATATATAGTTTTACTTTGTTAGAGGCATATTTAGTAGTACATACCTAAACACAATGGTGGTGTAGTCCACATTCCATCTAAACAATAGGCCTCCCTAGATCCTTCTAGGAAATGGTGATCAAAACATCTGTATTCTACTGAAGAGCCATTTTCATAGGTGTCTACTGTTGAACTAATAATGACTCCATGTTTAATAAGAGGAGGAGATGTGCACATTCCTTTAGATTCTGCAAAAATAAGTTTTAAAGTATACAATGAATTGCTATAATGAACATCCAGTACTTTATAAGTGCTACAGAGACA...
Task1_train_2235	A variant found in Chromosome 1 affects F13B (coagulation factor XIII B chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?	Pathogenic; Factor XIII, b subunit, deficiency of	ATGAAAAAAAGAGTACTGGAGCAGGAGGGGGTAACAAAAGAGCTAGGTGAAGAGAAGTTGCACTTTTCAGTAAGGTGATTAGGGTAGGCCTAAATAAGAAGTAAAAAAGCTTGAAGGGGACTTTGCACAAAAGCTTGAAGGAGACTGAGTGAACCATGTCATTTTCTTATGAAAGAGTGTCCCAAGCAAAGGGAACAACCAGTGCAAAGGCCCTGAAGTGAGAGCATTCTTGGCTTGTTTGTGGAAGAGTAAGGAGACCAGAAAGACTGGAGTGATTAGAGCAGGGAAGAGAGTATGGAGAGGTTAGAGAGACTCTTAAT...	ATGAAAAAAAGAGTACTGGAGCAGGAGGGGGTAACAAAAGAGCTAGGTGAAGAGAAGTTGCACTTTTCAGTAAGGTGATTAGGGTAGGCCTAAATAAGAAGTAAAAAAGCTTGAAGGGGACTTTGCACAAAAGCTTGAAGGAGACTGAGTGAACCATGTCATTTTCTTATGAAAGAGTGTCCCAAGCAAAGGGAACAACCAGTGCAAAGGCCCTGAAGTGAGAGCATTCTTGGCTTGTTTGTGGAAGAGTAAGGAGACCAGAAAGACTGGAGTGATTAGAGCAGGGAAGAGAGTATGGAGAGGTTAGAGAGACTCTTAAT...
Task1_train_2236	Consider this mutation in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is this a benign change or a disease-causing variant?	Pathogenic; Autosomal recessive retinitis pigmentosa	CCTGGATGGCTGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTCGAGACCACCCTGGCGGCAACATGGTGAAACCCCCATCTCTACTAAAATACAAAAAATTAACCAGGCATGGTGGTGGGCTTCTGTCATCCCAGCTCTTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCTACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAATAATAATAATAATAAATAATTTAAAAATGTATAATCAGATGTTAAATATTTTCTTGCAAAAAACA...	CCTGGATGGCTGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTCGAGACCACCCTGGCGGCAACATGGTGAAACCCCCATCTCTACTAAAATACAAAAAATTAACCAGGCATGGTGGTGGGCTTCTGTCATCCCAGCTCTTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCTACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAATAATAATAATAATAAATAATTTAAAAATGTATAATCAGATGTTAAATATTTTCTTGCAAAAAACA...
Task1_train_2237	The gene CRB1 (crumbs cell polarity complex component 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.	Pathogenic; Retinitis pigmentosa 12	CCTGGATGGCTGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTCGAGACCACCCTGGCGGCAACATGGTGAAACCCCCATCTCTACTAAAATACAAAAAATTAACCAGGCATGGTGGTGGGCTTCTGTCATCCCAGCTCTTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCTACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAATAATAATAATAATAAATAATTTAAAAATGTATAATCAGATGTTAAATATTTTCTTGCAAAAAACA...	CCTGGATGGCTGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTCGAGACCACCCTGGCGGCAACATGGTGAAACCCCCATCTCTACTAAAATACAAAAAATTAACCAGGCATGGTGGTGGGCTTCTGTCATCCCAGCTCTTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCTACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAATAATAATAATAATAAATAATTTAAAAATGTATAATCAGATGTTAAATATTTTCTTGCAAAAAACA...
Task1_train_2238	A variant affecting Chromosome 1, within the gene CRB1 (crumbs cell polarity complex component 1), has been observed. Determine if it's benign or associated with disease.	Pathogenic; Leber congenital amaurosis 8	CCTGGATGGCTGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTCGAGACCACCCTGGCGGCAACATGGTGAAACCCCCATCTCTACTAAAATACAAAAAATTAACCAGGCATGGTGGTGGGCTTCTGTCATCCCAGCTCTTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCTACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAATAATAATAATAATAAATAATTTAAAAATGTATAATCAGATGTTAAATATTTTCTTGCAAAAAACA...	CCTGGATGGCTGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTCGAGACCACCCTGGCGGCAACATGGTGAAACCCCCATCTCTACTAAAATACAAAAAATTAACCAGGCATGGTGGTGGGCTTCTGTCATCCCAGCTCTTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCTACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAATAATAATAATAATAAATAATTTAAAAATGTATAATCAGATGTTAAATATTTTCTTGCAAAAAACA...
Task1_train_2239	A sequence alteration has been identified in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is it disease-inducing or harmless?	Pathogenic; Retinitis pigmentosa 12	TGGGGAACAGAACCTTTTTAATTCAATTTCATAATTATTTTTGTCCGATCCTGACCATTCCCAGGTAATTTACAGGAAGGGCATAGTTGGCACCTTGAATTAGTCCATTGTTAGGCTTTCTATGTAAGGGTACTCGTGTTTTTTTGTTTGTTTATTTTGTTTCATTCTCTTTCTTAAAATAAAATTCCTTCAGTGAAAATTATTAGTGACTTGTACCTTTTTAATTATTTTTATTGCTATGTTTTGTACTTGTTCAGTAAATTTTCTATTAAGAACTCAAAACTATTTCTCAACATCTTATAAAGGTAAGAGCTAGCATT...	TGGGGAACAGAACCTTTTTAATTCAATTTCATAATTATTTTTGTCCGATCCTGACCATTCCCAGGTAATTTACAGGAAGGGCATAGTTGGCACCTTGAATTAGTCCATTGTTAGGCTTTCTATGTAAGGGTACTCGTGTTTTTTTGTTTGTTTATTTTGTTTCATTCTCTTTCTTAAAATAAAATTCCTTCAGTGAAAATTATTAGTGACTTGTACCTTTTTAATTATTTTTATTGCTATGTTTTGTACTTGTTCAGTAAATTTTCTATTAAGAACTCAAAACTATTTCTCAACATCTTATAAAGGTAAGAGCTAGCATT...