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_2100 | This gene mutation involves PBX1 (PBX homeobox 1) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | TGCCATCTCGGTTTCACAAATTAGAAAAACGAGGCACAGATACGTTAAGTAACTTTGAAGATCCCACAGCCAAGTGAGTTCCAGAGGCAGGAGCTGAACCCAGACTGTGCTCTCACTCAGCCTCTCTGCTGTGTTCATGTGAGGGATTTGCTCAGTCTGCAGGTCATGGCACAAGAGCATGGGTGCCATTAGCCTTGCTGAAGGGTCAGGAATGATTAAAGCCACTTTTGGGTGAGTTAAATGAAGCACTGAGTAGTGAAAGGATGTGCCCAAATATTCATGGAGGCAGGGTCAAAAACCCAGGCCTCCCATTCACCAGT... | TGCCATCTCGGTTTCACAAATTAGAAAAACGAGGCACAGATACGTTAAGTAACTTTGAAGATCCCACAGCCAAGTGAGTTCCAGAGGCAGGAGCTGAACCCAGACTGTGCTCTCACTCAGCCTCTCTGCTGTGTTCATGTGAGGGATTTGCTCAGTCTGCAGGTCATGGCACAAGAGCATGGGTGCCATTAGCCTTGCTGAAGGGTCAGGAATGATTAAAGCCACTTTTGGGTGAGTTAAATGAAGCACTGAGTAGTGAAAGGATGTGCCCAAATATTCATGGAGGCAGGGTCAAAAACCCAGGCCTCCCATTCACCAGT... |
Task1_train_2101 | This gene mutation involves PBX1 (PBX homeobox 1) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | ACCACCAGCTCATTCCAGAGAGGTTTCCTTTGAGTTCAATTGGAAGAGTCCCAAAAAATACACAGTAATGCTAATGCAAACAACTGAATGAAGGAACGGAGGCTCTCCAAATTAGGGAGCCTTCAGGGTCCAGTTCCCCAGGCCTAAAACAACAGTCTTTAGGCGAAGAAGAAAGAGAAGCCAAAGGTTATCTAAAGCCTGGCCTGCAGACCCTGTTAGTCACTTGGCTATCTTCCTCAAATTCCCATCATGCAAGAGCTTTTAACACATGCCCACTTTGCAGTTAGGCTTTTAAATCCAATCTGTACAATTTCTGATGC... | ACCACCAGCTCATTCCAGAGAGGTTTCCTTTGAGTTCAATTGGAAGAGTCCCAAAAAATACACAGTAATGCTAATGCAAACAACTGAATGAAGGAACGGAGGCTCTCCAAATTAGGGAGCCTTCAGGGTCCAGTTCCCCAGGCCTAAAACAACAGTCTTTAGGCGAAGAAGAAAGAGAAGCCAAAGGTTATCTAAAGCCTGGCCTGCAGACCCTGTTAGTCACTTGGCTATCTTCCTCAAATTCCCATCATGCAAGAGCTTTTAACACATGCCCACTTTGCAGTTAGGCTTTTAAATCCAATCTGTACAATTTCTGATGC... |
Task1_train_2102 | This variant affects gene PBX1 (PBX homeobox 1) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | AACAACTTCCCCATGAACACTTAACTTTGAAAAGCAATGTTCTATATGCTTTATCTGAGTGATCTTTTCCATGCTCACAGCTACAAATAATACCTCCATTTGAATACCTAATGGAACTTCTCCCCTGCAGCACCAAACTCATAAATTTTACTTCCTAATGGACTTCATCATGGCTCTGCCCAGAGGTTCTTCAAAATTAACTTGTTCAAAATGTGAATCAAACTCTTCCCATAAAACCTACTATTCTTTCTGTATTTCATGTCTCATTCTGTGTCTGTTATCTATACATCCCTAGTGCCTAACGCGTATTAGGCCCTTAG... | AACAACTTCCCCATGAACACTTAACTTTGAAAAGCAATGTTCTATATGCTTTATCTGAGTGATCTTTTCCATGCTCACAGCTACAAATAATACCTCCATTTGAATACCTAATGGAACTTCTCCCCTGCAGCACCAAACTCATAAATTTTACTTCCTAATGGACTTCATCATGGCTCTGCCCAGAGGTTCTTCAAAATTAACTTGTTCAAAATGTGAATCAAACTCTTCCCATAAAACCTACTATTCTTTCTGTATTTCATGTCTCATTCTGTGTCTGTTATCTATACATCCCTAGTGCCTAACGCGTATTAGGCCCTTAG... |
Task1_train_2103 | Given a variant located on Chromosome 1 and affecting LMX1A, LMX1A-AS2 (LIM homeobox transcription factor 1 alpha| LMX1A antisense RNA 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 7 | CACCCAGGCTGGAGTGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTTTTTTGTATTTTTACTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGATCTCGTGATCCACCCGCCTCGGCCTCCCAGAGGGCTGGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTGAAGGAATATTTTAACTCAATATTTCTCAAACTGTGTTCCATAGAG... | CACCCAGGCTGGAGTGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTTTTTTGTATTTTTACTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGATCTCGTGATCCACCCGCCTCGGCCTCCCAGAGGGCTGGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTGAAGGAATATTTTAACTCAATATTTCTCAAACTGTGTTCCATAGAG... |
Task1_train_2104 | A variant has been detected on Chromosome 1 in LMX1A (LIM homeobox transcription factor 1 alpha). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 7 | AGAACAGGTTTTTATAGCACATCCTTCTGCTAAGCCAACTAAAATAGGAGTGTACTCAGGGGCCCACCTCCACCTGCTGAAACCCTATCCATTCCTCAGAGGCCCAGCTCAAAAGCCACCTGTTCCACAAAGCCTTGCCTGATTGCCCAGACCAAAGTGACCTTTCCCTTCCCTTGCTTCCTGGCTTCCCCTCTGTTATGGTCCTCAGAGCCCCCTCTCTGGTGTTACAGTAATGTGTACACGCATCTCCTTCTTGCTGGTTACCTGGAAGCTGCCCGGGGACAAGCACCCAGCACAAAGCCCTACATGGGCTGGGAGTT... | AGAACAGGTTTTTATAGCACATCCTTCTGCTAAGCCAACTAAAATAGGAGTGTACTCAGGGGCCCACCTCCACCTGCTGAAACCCTATCCATTCCTCAGAGGCCCAGCTCAAAAGCCACCTGTTCCACAAAGCCTTGCCTGATTGCCCAGACCAAAGTGACCTTTCCCTTCCCTTGCTTCCTGGCTTCCCCTCTGTTATGGTCCTCAGAGCCCCCTCTCTGGTGTTACAGTAATGTGTACACGCATCTCCTTCTTGCTGGTTACCTGGAAGCTGCCCGGGGACAAGCACCCAGCACAAAGCCCTACATGGGCTGGGAGTT... |
Task1_train_2105 | Given a variant located on Chromosome 1 and affecting LMX1A (LIM homeobox transcription factor 1 alpha), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 7 | TAGAAGTTGGGGCTTTCCTGATGCCAGCTTTCTTAAGGCTGCAAGCAAGTTCAGGCAAGAACTAACCTGGAGGTAAAGGGAGCCGAACACGGCTGCTACAAAGATGCTAACACTGACTAGTGGATGTTAAGCACCCACATTTATTGAACACCAGGCTTTTTATATGCATTCTCTCTCATTCTCCAACAATAAACCTATTAGTAGGTATGATCATCACCATTTTATAGCTGTGGAGATTGAGGCTTAGAGAGGTTCCAAAATTTGCCCAAAGTCACAGAGATATAGTGATATAACCTGGCTAAGGCACCCCACTTGTCTGT... | TAGAAGTTGGGGCTTTCCTGATGCCAGCTTTCTTAAGGCTGCAAGCAAGTTCAGGCAAGAACTAACCTGGAGGTAAAGGGAGCCGAACACGGCTGCTACAAAGATGCTAACACTGACTAGTGGATGTTAAGCACCCACATTTATTGAACACCAGGCTTTTTATATGCATTCTCTCTCATTCTCCAACAATAAACCTATTAGTAGGTATGATCATCACCATTTTATAGCTGTGGAGATTGAGGCTTAGAGAGGTTCCAAAATTTGCCCAAAGTCACAGAGATATAGTGATATAACCTGGCTAAGGCACCCCACTTGTCTGT... |
Task1_train_2106 | A variant was discovered on Chromosome 1, affecting TMCO1 (transmembrane and coiled-coil domains 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | GCCAGTCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCAGAAGTCTGAGGCAGGAGGATCGCTTAAGCCTGGGAGGTCCAGGCTGCAATGAGCTCTGAGGGGTGACAGAGTGAGACCCTGTCTCAAAAAATAAATAAATAAATAAAAAATAAAAAAAGGATGACTAGTAAGATGGAGAGCAGCAAAACCGAAAGTATGGTGTCCTGGAGCCAAATTAATAAAGCATATCAAGGTTTCTGGCTTACACTACTGGAAGCATGGAGGTACCCATCACCAAGATAGGGAAATCCTGGAAGAATATCACGTTTGTGAAGGTAAA... | GCCAGTCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCAGAAGTCTGAGGCAGGAGGATCGCTTAAGCCTGGGAGGTCCAGGCTGCAATGAGCTCTGAGGGGTGACAGAGTGAGACCCTGTCTCAAAAAATAAATAAATAAATAAAAAATAAAAAAAGGATGACTAGTAAGATGGAGAGCAGCAAAACCGAAAGTATGGTGTCCTGGAGCCAAATTAATAAAGCATATCAAGGTTTCTGGCTTACACTACTGGAAGCATGGAGGTACCCATCACCAAGATAGGGAAATCCTGGAAGAATATCACGTTTGTGAAGGTAAA... |
Task1_train_2107 | Chromosome 1 houses a mutation in gene CD247 (CD247 molecule). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Immunodeficiency 25 | GAGGCAGGAGAATTGCTTGAACCCTAGAGGCAGAGGTTGTGGTGAGCCGAGACTGTGCCGTTGCACCCCAGCCTGGGCAACAAAAGCTAAACGCTGTCTCAAAAAAAAAAAGAAAACAAAACAAAAGAAACCAATAACCAAGTTATGGAATCAACCTAAGTGTCCATCAAAGAATGAACAGATAAAGAGACTGTGGAACATACACACAATAGAATACTATTCAGCTTTTAAAAAGGAAGAAATTCTGTTATTCACTCTAACATGGATGGAACTAGAGACCATTATGCCAAGTGAAATCAGCCAGGCACAGAAAGACAAAC... | GAGGCAGGAGAATTGCTTGAACCCTAGAGGCAGAGGTTGTGGTGAGCCGAGACTGTGCCGTTGCACCCCAGCCTGGGCAACAAAAGCTAAACGCTGTCTCAAAAAAAAAAAGAAAACAAAACAAAAGAAACCAATAACCAAGTTATGGAATCAACCTAAGTGTCCATCAAAGAATGAACAGATAAAGAGACTGTGGAACATACACACAATAGAATACTATTCAGCTTTTAAAAAGGAAGAAATTCTGTTATTCACTCTAACATGGATGGAACTAGAGACCATTATGCCAAGTGAAATCAGCCAGGCACAGAAAGACAAAC... |
Task1_train_2108 | Located on Chromosome 1, this mutation impacts CD247 (CD247 molecule). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Immunodeficiency 25 | GAAATGCAAATGCAACAGCTTAGTAAAAAGTAGACATTTTAAAAGGGATGTATGCAATGGGTCACTTAACTGAGCAAGAAAAGAGAGAAGACCTGACTGAAATTCTATGTGCGGCCTTTCCTCCGGGGAGACTGTGGAGGTGTCCCCTCAGGCAGCAAAAGCACCATCGCAGCCCTCGGTGTCAAGGCCTCTCTGAGTCGCGCTTTGCCTTACCGTACCTCGTTTCTGGGCTAGGATATTTTGAAACACTTTTGTCTATTAGCTTTATCTAAAATAGCTAAAATATCAGTCTCCATAGAGGCAAAGTAAGTGGCACTGAG... | GAAATGCAAATGCAACAGCTTAGTAAAAAGTAGACATTTTAAAAGGGATGTATGCAATGGGTCACTTAACTGAGCAAGAAAAGAGAGAAGACCTGACTGAAATTCTATGTGCGGCCTTTCCTCCGGGGAGACTGTGGAGGTGTCCCCTCAGGCAGCAAAAGCACCATCGCAGCCCTCGGTGTCAAGGCCTCTCTGAGTCGCGCTTTGCCTTACCGTACCTCGTTTCTGGGCTAGGATATTTTGAAACACTTTTGTCTATTAGCTTTATCTAAAATAGCTAAAATATCAGTCTCCATAGAGGCAAAGTAAGTGGCACTGAG... |
Task1_train_2109 | The gene TBX19 (T-box transcription factor 19) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Congenital isolated adrenocorticotropic hormone deficiency | ATAACCCTATATGATCCCTAGAATCATTTCTGATGCCCACTTTTATGATTCTTTGCAAACGGCATTTGTGTTCTCAGGATCCTTCTGTTTTCTACACTTGGCCAATATTATTAACATAATTGAAAACATTAAAATATATCGTAAAAGGGAATCGTTTAATCTGATAGTAGGAGAAAATAAAAGACAATAATCCTTCTATTGAAGAAAGAACAAAAGAAAATGCAACATGAAGATTTTACATCACACAGGCAGCCGCCCTAGAGGAGGTGTATCATTTTAGTTAATGTAAAAGTGCAATCATCTCACTAAGGGACGAGGAG... | ATAACCCTATATGATCCCTAGAATCATTTCTGATGCCCACTTTTATGATTCTTTGCAAACGGCATTTGTGTTCTCAGGATCCTTCTGTTTTCTACACTTGGCCAATATTATTAACATAATTGAAAACATTAAAATATATCGTAAAAGGGAATCGTTTAATCTGATAGTAGGAGAAAATAAAAGACAATAATCCTTCTATTGAAGAAAGAACAAAAGAAAATGCAACATGAAGATTTTACATCACACAGGCAGCCGCCCTAGAGGAGGTGTATCATTTTAGTTAATGTAAAAGTGCAATCATCTCACTAAGGGACGAGGAG... |
Task1_train_2110 | Assess the clinical impact of this variant on gene TBX19 (T-box transcription factor 19), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital isolated adrenocorticotropic hormone deficiency | CATTAAAATATATCGTAAAAGGGAATCGTTTAATCTGATAGTAGGAGAAAATAAAAGACAATAATCCTTCTATTGAAGAAAGAACAAAAGAAAATGCAACATGAAGATTTTACATCACACAGGCAGCCGCCCTAGAGGAGGTGTATCATTTTAGTTAATGTAAAAGTGCAATCATCTCACTAAGGGACGAGGAGTGTTGAGGTGGATAATGCAGTTCTCAGCGAAGACCTGGATTTGGAATGCATCGTCTGATGCATTTTTCTCCCTAGAAATTTTACTTAATTTATATACTTGTCCTAGCCTCCCATTTAAATTAATTT... | CATTAAAATATATCGTAAAAGGGAATCGTTTAATCTGATAGTAGGAGAAAATAAAAGACAATAATCCTTCTATTGAAGAAAGAACAAAAGAAAATGCAACATGAAGATTTTACATCACACAGGCAGCCGCCCTAGAGGAGGTGTATCATTTTAGTTAATGTAAAAGTGCAATCATCTCACTAAGGGACGAGGAGTGTTGAGGTGGATAATGCAGTTCTCAGCGAAGACCTGGATTTGGAATGCATCGTCTGATGCATTTTTCTCCCTAGAAATTTTACTTAATTTATATACTTGTCCTAGCCTCCCATTTAAATTAATTT... |
Task1_train_2111 | This sequence variant lies in DPT (dermatopontin) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Progressive sensorineural hearing impairment | TGGCTACTCCCAGCTGCAGCCTCTCCTCCCCCAGCCATGCTCCCTGCACCCTCCCAGCTCCCCATCCTCTCACCAGCCATTTGCTTTCTTCATGGATGCCAAGTCAGCCAATCAGCATTGCTTGTCTCCTTTCCTGCTGTGCTCCACATACCCAACTAAGGCTATTTCCTGGTTTCCATCCTGAACCAGGCTGAAATTGCTAAAATATTAATGGCTCCCTTTGTGAAAAATAACACCGAAGCATCTTATTATAAATTAAAATTGCCAGAGAGTCAGAAACAATGACATGGAGGAAATAAAGCAAAGCTCTAATATGAAAA... | TGGCTACTCCCAGCTGCAGCCTCTCCTCCCCCAGCCATGCTCCCTGCACCCTCCCAGCTCCCCATCCTCTCACCAGCCATTTGCTTTCTTCATGGATGCCAAGTCAGCCAATCAGCATTGCTTGTCTCCTTTCCTGCTGTGCTCCACATACCCAACTAAGGCTATTTCCTGGTTTCCATCCTGAACCAGGCTGAAATTGCTAAAATATTAATGGCTCCCTTTGTGAAAAATAACACCGAAGCATCTTATTATAAATTAAAATTGCCAGAGAGTCAGAAACAATGACATGGAGGAAATAAAGCAAAGCTCTAATATGAAAA... |
Task1_train_2112 | Here is a variant affecting SLC19A2 (solute carrier family 19 member 2) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | GTTTTCTATGTTTCTTACTTATATTCAAAAAAGTTTGAAACTGTCTATAAAAATCTTTAGAACTATGGTCAATATGTTAATATCTAAAATATATATTTATACACATATTATCTGTATATACGTTAATTTTAGCTAAAGCCACTGTAACACATTCAAAACAGATAAAGAAGTGTCTTTATTTTTTTTCCACTTCATAAAATCTATGAAATGATTACACACCTCCTTCCCTCCCCCATCAACCCTCTGTTGACTCTCTAATATCACCTAACAAACTATGAAAAAAATCAGCATTTCATTGCCACTTAATCCTTGGTCATTCT... | GTTTTCTATGTTTCTTACTTATATTCAAAAAAGTTTGAAACTGTCTATAAAAATCTTTAGAACTATGGTCAATATGTTAATATCTAAAATATATATTTATACACATATTATCTGTATATACGTTAATTTTAGCTAAAGCCACTGTAACACATTCAAAACAGATAAAGAAGTGTCTTTATTTTTTTTCCACTTCATAAAATCTATGAAATGATTACACACCTCCTTCCCTCCCCCATCAACCCTCTGTTGACTCTCTAATATCACCTAACAAACTATGAAAAAAATCAGCATTTCATTGCCACTTAATCCTTGGTCATTCT... |
Task1_train_2113 | A variant on Chromosome 1 in gene SLC19A2 (solute carrier family 19 member 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | AATATATATTTATACACATATTATCTGTATATACGTTAATTTTAGCTAAAGCCACTGTAACACATTCAAAACAGATAAAGAAGTGTCTTTATTTTTTTTCCACTTCATAAAATCTATGAAATGATTACACACCTCCTTCCCTCCCCCATCAACCCTCTGTTGACTCTCTAATATCACCTAACAAACTATGAAAAAAATCAGCATTTCATTGCCACTTAATCCTTGGTCATTCTGACAAAAAGTGCTCACAGGTGCCCTGGTAATCAAGGTGAGTTTCATGATGAGGGTTGCCCAGGCTCTACAAGTCTACCCAGGCTCTC... | AATATATATTTATACACATATTATCTGTATATACGTTAATTTTAGCTAAAGCCACTGTAACACATTCAAAACAGATAAAGAAGTGTCTTTATTTTTTTTCCACTTCATAAAATCTATGAAATGATTACACACCTCCTTCCCTCCCCCATCAACCCTCTGTTGACTCTCTAATATCACCTAACAAACTATGAAAAAAATCAGCATTTCATTGCCACTTAATCCTTGGTCATTCTGACAAAAAGTGCTCACAGGTGCCCTGGTAATCAAGGTGAGTTTCATGATGAGGGTTGCCCAGGCTCTACAAGTCTACCCAGGCTCTC... |
Task1_train_2114 | The gene LOC129931894, SLC19A2 (ATAC-STARR-seq lymphoblastoid silent region 1546| solute carrier family 19 member 2) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ATCAGCAAATAGTTACTACGCCTGGCAACTCTGCTTTATTTCTGTGCCCCCTGAACACACTTCACTCACCTTGAAAAGCTTTCTGATAGGACAGAGCACATGATCTTGGTAGCACGTCACACAGCAACCTTCTACCCAGAGCACATGACAAAACAGATCAGCTTTCAAATATCAACACTGGGAACATGTTTCTCTCCCTGTGTTTCACTATCCGGAAAGGCGCACAAACTGTGCAGATCACATGGCAGTTCACATGAAACTTTAATGGTCAGCTGTTCACAGCAGTATCAATTCTGCCTCAGTGGCTACACCTCAGATTC... | ATCAGCAAATAGTTACTACGCCTGGCAACTCTGCTTTATTTCTGTGCCCCCTGAACACACTTCACTCACCTTGAAAAGCTTTCTGATAGGACAGAGCACATGATCTTGGTAGCACGTCACACAGCAACCTTCTACCCAGAGCACATGACAAAACAGATCAGCTTTCAAATATCAACACTGGGAACATGTTTCTCTCCCTGTGTTTCACTATCCGGAAAGGCGCACAAACTGTGCAGATCACATGGCAGTTCACATGAAACTTTAATGGTCAGCTGTTCACAGCAGTATCAATTCTGCCTCAGTGGCTACACCTCAGATTC... |
Task1_train_2115 | This mutation occurs in F5 (coagulation factor V) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not specified | TAACCTAAACTCAAGGGAAGAAAAAGATTTATTCTGAATTTTTTAAAAACCCAGCAATTTCTCAAGTGAGTTTAATCCAGTGGAAAACCAGATCCTTGGAGGACCTGTGTTGTAGTCAGGAGTCTAGGCATGGGCCTCAGCTACTAGGCCAGTCCTTGATGATGAAATCTGGGCTTCAGGTCTGTGTTTGGTCAACTGCCAACCACCTCCTATCCCCTTTCTTGCACACAGGTCATGTTTGATTTTTTCTGTTGTGTTTATATTCCTAATGCTGAATGTGCCTGCCTAACAGGAAGACATGGAAGGGTATATGGGAGCCT... | TAACCTAAACTCAAGGGAAGAAAAAGATTTATTCTGAATTTTTTAAAAACCCAGCAATTTCTCAAGTGAGTTTAATCCAGTGGAAAACCAGATCCTTGGAGGACCTGTGTTGTAGTCAGGAGTCTAGGCATGGGCCTCAGCTACTAGGCCAGTCCTTGATGATGAAATCTGGGCTTCAGGTCTGTGTTTGGTCAACTGCCAACCACCTCCTATCCCCTTTCTTGCACACAGGTCATGTTTGATTTTTTCTGTTGTGTTTATATTCCTAATGCTGAATGTGCCTGCCTAACAGGAAGACATGGAAGGGTATATGGGAGCCT... |
Task1_train_2116 | A genomic change on Chromosome 1 affects F5 (coagulation factor V). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | TGCCTGAGCCCTGTGGGATTCATTTTTTCATCTGCTTAAGACCTCATCTGTATGACACACAGTGGCTTGGGAGAAACTGCATGTTATGTTGCAACTGAGTTGGGTCACACATTTAGCCTGTGTGGTGCTGCAAATAGTTCATAAATTAGGTGACATTTTTGTACTCCGTATATACTTTGGGTCTATGGGTTTGCCTAGGCTCTATGCCAGAACCCTGTGTTCTGACCCCTTAGGAAGTATATGCACAAGGAAGAAATGAGAAGGAGTTACAGATTGCCTTTTCCCTGTATTTCTTAGCAGGGACCTCTTCCCATTACCCA... | TGCCTGAGCCCTGTGGGATTCATTTTTTCATCTGCTTAAGACCTCATCTGTATGACACACAGTGGCTTGGGAGAAACTGCATGTTATGTTGCAACTGAGTTGGGTCACACATTTAGCCTGTGTGGTGCTGCAAATAGTTCATAAATTAGGTGACATTTTTGTACTCCGTATATACTTTGGGTCTATGGGTTTGCCTAGGCTCTATGCCAGAACCCTGTGTTCTGACCCCTTAGGAAGTATATGCACAAGGAAGAAATGAGAAGGAGTTACAGATTGCCTTTTCCCTGTATTTCTTAGCAGGGACCTCTTCCCATTACCCA... |
Task1_train_2117 | This gene mutation involves F5 (coagulation factor V) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Factor V deficiency | TAACACAAAACTGTAAAGATAAAGTTTAGTGTTACCAAACGTTTAACTGAAACCAAAGTGAAGGAAGTGCTTTGTTTCCTCCTTCTTAAGTTAGAGGAACTGCTGTGAAATTTCAGAAACCAGGCAGGTGAATTTTTGGAGAGGGACGGGTTGAGATCATTTGGGCATCCTTCAAATTATATCAGGCGTGAGAACACCTATCTACATATTCATAACACAAGCTCGTACCTTTCTCTTCTCAGTTTCTGTTTCAGTTACTAGCTTACAGGGCAAATTTTCCTTGTGAATTTCCAAATAGGCACACTTTTCCCAGTGTGACC... | TAACACAAAACTGTAAAGATAAAGTTTAGTGTTACCAAACGTTTAACTGAAACCAAAGTGAAGGAAGTGCTTTGTTTCCTCCTTCTTAAGTTAGAGGAACTGCTGTGAAATTTCAGAAACCAGGCAGGTGAATTTTTGGAGAGGGACGGGTTGAGATCATTTGGGCATCCTTCAAATTATATCAGGCGTGAGAACACCTATCTACATATTCATAACACAAGCTCGTACCTTTCTCTTCTCAGTTTCTGTTTCAGTTACTAGCTTACAGGGCAAATTTTCCTTGTGAATTTCCAAATAGGCACACTTTTCCCAGTGTGACC... |
Task1_train_2118 | This gene mutation involves F5 (coagulation factor V) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Congenital factor V deficiency | TAACACAAAACTGTAAAGATAAAGTTTAGTGTTACCAAACGTTTAACTGAAACCAAAGTGAAGGAAGTGCTTTGTTTCCTCCTTCTTAAGTTAGAGGAACTGCTGTGAAATTTCAGAAACCAGGCAGGTGAATTTTTGGAGAGGGACGGGTTGAGATCATTTGGGCATCCTTCAAATTATATCAGGCGTGAGAACACCTATCTACATATTCATAACACAAGCTCGTACCTTTCTCTTCTCAGTTTCTGTTTCAGTTACTAGCTTACAGGGCAAATTTTCCTTGTGAATTTCCAAATAGGCACACTTTTCCCAGTGTGACC... | TAACACAAAACTGTAAAGATAAAGTTTAGTGTTACCAAACGTTTAACTGAAACCAAAGTGAAGGAAGTGCTTTGTTTCCTCCTTCTTAAGTTAGAGGAACTGCTGTGAAATTTCAGAAACCAGGCAGGTGAATTTTTGGAGAGGGACGGGTTGAGATCATTTGGGCATCCTTCAAATTATATCAGGCGTGAGAACACCTATCTACATATTCATAACACAAGCTCGTACCTTTCTCTTCTCAGTTTCTGTTTCAGTTACTAGCTTACAGGGCAAATTTTCCTTGTGAATTTCCAAATAGGCACACTTTTCCCAGTGTGACC... |
Task1_train_2119 | A variant on Chromosome 1 in gene F5 (coagulation factor V) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Thrombophilia due to activated protein C resistance | GTGAAAGAAGAGTTGACTTCATCTTCATAAGGCGAGAAGGTCACTCCATGAGGGTAAATGCTATAGGGGCGGCTGGCCATATTTTTGAACACGATCTACAAAGTTAAATCAAATTTATTCTAGGATTTAAGGTTGATCATGACAAATAATATAAGATACTAGCTTTGCATATTCACCTTTTGGATGGTGTGTGTGTATACATGTGTACACACAGTAGGAAAATTAGATCTGTTTATCTGAGCAGTAACCTCCCCTCATCACTTGGCAGGAGCATTGGAGAGAGTGTTTCACTCACACATTAAGGTGGAAAATGGAAAGAG... | GTGAAAGAAGAGTTGACTTCATCTTCATAAGGCGAGAAGGTCACTCCATGAGGGTAAATGCTATAGGGGCGGCTGGCCATATTTTTGAACACGATCTACAAAGTTAAATCAAATTTATTCTAGGATTTAAGGTTGATCATGACAAATAATATAAGATACTAGCTTTGCATATTCACCTTTTGGATGGTGTGTGTGTATACATGTGTACACACAGTAGGAAAATTAGATCTGTTTATCTGAGCAGTAACCTCCCCTCATCACTTGGCAGGAGCATTGGAGAGAGTGTTTCACTCACACATTAAGGTGGAAAATGGAAAGAG... |
Task1_train_2120 | Consider this mutation in F5 (coagulation factor V) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Congenital factor V deficiency | CACCCATCTTTTGTAGCTACTGGGATAAATACTTTGGGAGCAGAAACATGAACCACTTTTCCCCTGCCCTCTTTATTACCTTAGTTTGCAAAAGCAACTACATGCGGCCAAAAAGCACATTTTAAAAAGCTCAACATCAGTGTTCATGAGAGAAATGCAAATCAAAACCACAATGAGGCCGGGCGCGGTGGCTCACGCCTGTACTCTCAGCACTTTGGGAGGCCGAGGCGGGCAAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTATATTTTTTG... | CACCCATCTTTTGTAGCTACTGGGATAAATACTTTGGGAGCAGAAACATGAACCACTTTTCCCCTGCCCTCTTTATTACCTTAGTTTGCAAAAGCAACTACATGCGGCCAAAAAGCACATTTTAAAAAGCTCAACATCAGTGTTCATGAGAGAAATGCAAATCAAAACCACAATGAGGCCGGGCGCGGTGGCTCACGCCTGTACTCTCAGCACTTTGGGAGGCCGAGGCGGGCAAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTATATTTTTTG... |
Task1_train_2121 | An alteration has been detected in F5 (coagulation factor V) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Thrombophilia due to activated protein C resistance | CACCCATCTTTTGTAGCTACTGGGATAAATACTTTGGGAGCAGAAACATGAACCACTTTTCCCCTGCCCTCTTTATTACCTTAGTTTGCAAAAGCAACTACATGCGGCCAAAAAGCACATTTTAAAAAGCTCAACATCAGTGTTCATGAGAGAAATGCAAATCAAAACCACAATGAGGCCGGGCGCGGTGGCTCACGCCTGTACTCTCAGCACTTTGGGAGGCCGAGGCGGGCAAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTATATTTTTTG... | CACCCATCTTTTGTAGCTACTGGGATAAATACTTTGGGAGCAGAAACATGAACCACTTTTCCCCTGCCCTCTTTATTACCTTAGTTTGCAAAAGCAACTACATGCGGCCAAAAAGCACATTTTAAAAAGCTCAACATCAGTGTTCATGAGAGAAATGCAAATCAAAACCACAATGAGGCCGGGCGCGGTGGCTCACGCCTGTACTCTCAGCACTTTGGGAGGCCGAGGCGGGCAAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTATATTTTTTG... |
Task1_train_2122 | This variant affects the gene GORAB (golgin, RAB6 interacting) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Geroderma osteodysplastica | GAGCATATTAAATTTGTAAATATAGTTGCAGTTTTAAAGACCTTCATTAGTGCTCCCAGTTTTAACCATCTACACATTCATAAGGGAAGCAGTAAATAGCTATCAGTATATGTAAATTAGCAACAAATGCAAGTTTTAATTTTTATGTGGGGAGGCCTTAATCATTTGATGTGTAGAGGAATAAGGTTTTCTACATAAGTGACATACTCCCATGAATCTTAATTGGATTTCCTATGGGCATTTTTCTTAAATAATTTGCCCCGCCTCCACAAGTAGAAGATACATGATATAGTTTAACTTTTTATTGATGACTCAGGGTC... | GAGCATATTAAATTTGTAAATATAGTTGCAGTTTTAAAGACCTTCATTAGTGCTCCCAGTTTTAACCATCTACACATTCATAAGGGAAGCAGTAAATAGCTATCAGTATATGTAAATTAGCAACAAATGCAAGTTTTAATTTTTATGTGGGGAGGCCTTAATCATTTGATGTGTAGAGGAATAAGGTTTTCTACATAAGTGACATACTCCCATGAATCTTAATTGGATTTCCTATGGGCATTTTTCTTAAATAATTTGCCCCGCCTCCACAAGTAGAAGATACATGATATAGTTTAACTTTTTATTGATGACTCAGGGTC... |
Task1_train_2123 | Here is a variant affecting PRRX1 (paired related homeobox 1) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Agnathia-otocephaly complex | GCAAGTGCAATGTAACTACTGAAAGGTATTTAATCCTAGGTGTTTGAATTCTAGTGCTGATCTTATTGCAAACTAATTTTGCTAATAGCTAGTGGTATAATCAGTGATGTTGGTTGGAATATTTTAGGCATTGGTAGATCTCAAAAATTATTATTAAATTTGCTCCATTTCCAAGATGCAGCTGATCTTACATTCTTACTGAGTGTCACAGAAGTGCCACCAAAGCTGGGCCCTGAGGTAAGGCACCACAAGTGTAAAATACCAAAGAGAAGGTGGACTGTACAAAACCATGAAGCAGAGAGAAAGGTATGGTAGCTTCT... | GCAAGTGCAATGTAACTACTGAAAGGTATTTAATCCTAGGTGTTTGAATTCTAGTGCTGATCTTATTGCAAACTAATTTTGCTAATAGCTAGTGGTATAATCAGTGATGTTGGTTGGAATATTTTAGGCATTGGTAGATCTCAAAAATTATTATTAAATTTGCTCCATTTCCAAGATGCAGCTGATCTTACATTCTTACTGAGTGTCACAGAAGTGCCACCAAAGCTGGGCCCTGAGGTAAGGCACCACAAGTGTAAAATACCAAAGAGAAGGTGGACTGTACAAAACCATGAAGCAGAGAGAAAGGTATGGTAGCTTCT... |
Task1_train_2124 | A variant found in Chromosome 1 affects PRRX1 (paired related homeobox 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Agnathia-otocephaly complex | TTTTTGATGGATCCAAGTATACACAGTCACCAGCTCCTGCTTTTGTCATGTCCTACTGACTTTGCCCTTTCTATTAAGATAGTAAAATTGGCAGTAAGGACCAGTTCCTATGAATAAAAGCATATTGGTAAGATTTTTTTTTTTTTTTTTTTAGAAATCATTGCTCACAGCAGAATGACAGAAACCAATGACATCGAGCAGGAATCAATTTAATCACACTATATATAGATATTTCTTAGTTATCTGTCTATTCATTGAACACATGGTACTAGATATGGTGTCATTTCTACCTGAGGAAACAGTTGTGAACAAGGCAGATG... | TTTTTGATGGATCCAAGTATACACAGTCACCAGCTCCTGCTTTTGTCATGTCCTACTGACTTTGCCCTTTCTATTAAGATAGTAAAATTGGCAGTAAGGACCAGTTCCTATGAATAAAAGCATATTGGTAAGATTTTTTTTTTTTTTTTTTTAGAAATCATTGCTCACAGCAGAATGACAGAAACCAATGACATCGAGCAGGAATCAATTTAATCACACTATATATAGATATTTCTTAGTTATCTGTCTATTCATTGAACACATGGTACTAGATATGGTGTCATTTCTACCTGAGGAAACAGTTGTGAACAAGGCAGATG... |
Task1_train_2125 | This variant lies on Chromosome 1 and affects the gene FMO3 (flavin containing dimethylaniline monoxygenase 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Trimethylaminuria | GCAGCTTGTGTTTACCATAATCAAAGGAAAAGTAGAAACTGGGTGGCCATGGGAGACTGGCCTACAGTCCCATCCATCACAGAGGGTTGGCGTGTGCTCACCCATTCAAGGACCAATAAATGAGTATCTCTTTAAGAGCAGCTCCTCCCATTTTTCAACAATCTTCCTAATATGTAGGCTCACTAGAACATTTTCTCTTTCAAACTGCCCAGACGGTTGGACAGGACGTAGACACACAGAAGAAAAGAAGACAAAGAACGGGTAGGAAAATTAAAAAGGTAGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGCTT... | GCAGCTTGTGTTTACCATAATCAAAGGAAAAGTAGAAACTGGGTGGCCATGGGAGACTGGCCTACAGTCCCATCCATCACAGAGGGTTGGCGTGTGCTCACCCATTCAAGGACCAATAAATGAGTATCTCTTTAAGAGCAGCTCCTCCCATTTTTCAACAATCTTCCTAATATGTAGGCTCACTAGAACATTTTCTCTTTCAAACTGCCCAGACGGTTGGACAGGACGTAGACACACAGAAGAAAAGAAGACAAAGAACGGGTAGGAAAATTAAAAAGGTAGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGCTT... |
Task1_train_2126 | This variant impacts the gene FMO3 (flavin containing dimethylaniline monoxygenase 3) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; not specified | ATCACAGGCCACATTTCTGAATAGGCCACGGATCTGGGCAAAATGTCCTCTTTTCTCAGGAGCTCCCCAAACAATAAATCAGTAAATCATATGAATTTTTGCATGAAGTTTTATGAATAGTGGCTTTCTTCTGGGAATACCTCCCTTTTTTAACTTCCTCTGATTTTTTTCTGGACTATGTATCAATTTTTTTCTTTAATGTTTCTTCTCTCTTTATGCTGATTATCATCTCTTTAAACTTACCCAACTCACAGAAAGCTACAAATTTTTGCACTTCCCCATCCCACATGCCTATAGCAGAGTCAACAAACCATGTGAGC... | ATCACAGGCCACATTTCTGAATAGGCCACGGATCTGGGCAAAATGTCCTCTTTTCTCAGGAGCTCCCCAAACAATAAATCAGTAAATCATATGAATTTTTGCATGAAGTTTTATGAATAGTGGCTTTCTTCTGGGAATACCTCCCTTTTTTAACTTCCTCTGATTTTTTTCTGGACTATGTATCAATTTTTTTCTTTAATGTTTCTTCTCTCTTTATGCTGATTATCATCTCTTTAAACTTACCCAACTCACAGAAAGCTACAAATTTTTGCACTTCCCCATCCCACATGCCTATAGCAGAGTCAACAAACCATGTGAGC... |
Task1_train_2127 | Assess the clinical impact of this variant on gene FMO3 (flavin containing dimethylaniline monoxygenase 3), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Trimethylaminuria | CGGATCTGGGCAAAATGTCCTCTTTTCTCAGGAGCTCCCCAAACAATAAATCAGTAAATCATATGAATTTTTGCATGAAGTTTTATGAATAGTGGCTTTCTTCTGGGAATACCTCCCTTTTTTAACTTCCTCTGATTTTTTTCTGGACTATGTATCAATTTTTTTCTTTAATGTTTCTTCTCTCTTTATGCTGATTATCATCTCTTTAAACTTACCCAACTCACAGAAAGCTACAAATTTTTGCACTTCCCCATCCCACATGCCTATAGCAGAGTCAACAAACCATGTGAGCAGCAGAAAACTCATGTCCTATTTAAAGA... | CGGATCTGGGCAAAATGTCCTCTTTTCTCAGGAGCTCCCCAAACAATAAATCAGTAAATCATATGAATTTTTGCATGAAGTTTTATGAATAGTGGCTTTCTTCTGGGAATACCTCCCTTTTTTAACTTCCTCTGATTTTTTTCTGGACTATGTATCAATTTTTTTCTTTAATGTTTCTTCTCTCTTTATGCTGATTATCATCTCTTTAAACTTACCCAACTCACAGAAAGCTACAAATTTTTGCACTTCCCCATCCCACATGCCTATAGCAGAGTCAACAAACCATGTGAGCAGCAGAAAACTCATGTCCTATTTAAAGA... |
Task1_train_2128 | The gene FMO3 (flavin containing dimethylaniline monoxygenase 3) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Trimethylaminuria | GTCCTCTTTTCTCAGGAGCTCCCCAAACAATAAATCAGTAAATCATATGAATTTTTGCATGAAGTTTTATGAATAGTGGCTTTCTTCTGGGAATACCTCCCTTTTTTAACTTCCTCTGATTTTTTTCTGGACTATGTATCAATTTTTTTCTTTAATGTTTCTTCTCTCTTTATGCTGATTATCATCTCTTTAAACTTACCCAACTCACAGAAAGCTACAAATTTTTGCACTTCCCCATCCCACATGCCTATAGCAGAGTCAACAAACCATGTGAGCAGCAGAAAACTCATGTCCTATTTAAAGAACACGCTGCTTTCTGA... | GTCCTCTTTTCTCAGGAGCTCCCCAAACAATAAATCAGTAAATCATATGAATTTTTGCATGAAGTTTTATGAATAGTGGCTTTCTTCTGGGAATACCTCCCTTTTTTAACTTCCTCTGATTTTTTTCTGGACTATGTATCAATTTTTTTCTTTAATGTTTCTTCTCTCTTTATGCTGATTATCATCTCTTTAAACTTACCCAACTCACAGAAAGCTACAAATTTTTGCACTTCCCCATCCCACATGCCTATAGCAGAGTCAACAAACCATGTGAGCAGCAGAAAACTCATGTCCTATTTAAAGAACACGCTGCTTTCTGA... |
Task1_train_2129 | Here is a variant affecting FMO3 (flavin containing dimethylaniline monoxygenase 3) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not specified | GAATTACAAGACCTAAATTAGCATTGCAGAGATTGATCGGCTGCTGTGGTCATCATTCAATGTAAGGGTAGGGCAAGGAAGGAAGTGAAAGGACCAGTTAAAAAGCTACTCTCAAAAACCTGAATCAGAGGGGATGTTGGTCTGGACCAAAATTGTTAGCAGTGAGTGGTCAGAATTGGGCAGATTTCTGGATAGCTTGAAGGTCGACCCAAATAGGATTTTCTGTGGACTGGATAGAGGATGAGAGAGCAAGGAGGGAGTAAGAATGTCTTCAAGATATTTGAAAAAGGATGACATTGACGTTTACTAAAATGTGAAAA... | GAATTACAAGACCTAAATTAGCATTGCAGAGATTGATCGGCTGCTGTGGTCATCATTCAATGTAAGGGTAGGGCAAGGAAGGAAGTGAAAGGACCAGTTAAAAAGCTACTCTCAAAAACCTGAATCAGAGGGGATGTTGGTCTGGACCAAAATTGTTAGCAGTGAGTGGTCAGAATTGGGCAGATTTCTGGATAGCTTGAAGGTCGACCCAAATAGGATTTTCTGTGGACTGGATAGAGGATGAGAGAGCAAGGAGGGAGTAAGAATGTCTTCAAGATATTTGAAAAAGGATGACATTGACGTTTACTAAAATGTGAAAA... |
Task1_train_2130 | Given this variant in gene FMO3 (flavin containing dimethylaniline monoxygenase 3) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; FMO3-related disorder | GAATTACAAGACCTAAATTAGCATTGCAGAGATTGATCGGCTGCTGTGGTCATCATTCAATGTAAGGGTAGGGCAAGGAAGGAAGTGAAAGGACCAGTTAAAAAGCTACTCTCAAAAACCTGAATCAGAGGGGATGTTGGTCTGGACCAAAATTGTTAGCAGTGAGTGGTCAGAATTGGGCAGATTTCTGGATAGCTTGAAGGTCGACCCAAATAGGATTTTCTGTGGACTGGATAGAGGATGAGAGAGCAAGGAGGGAGTAAGAATGTCTTCAAGATATTTGAAAAAGGATGACATTGACGTTTACTAAAATGTGAAAA... | GAATTACAAGACCTAAATTAGCATTGCAGAGATTGATCGGCTGCTGTGGTCATCATTCAATGTAAGGGTAGGGCAAGGAAGGAAGTGAAAGGACCAGTTAAAAAGCTACTCTCAAAAACCTGAATCAGAGGGGATGTTGGTCTGGACCAAAATTGTTAGCAGTGAGTGGTCAGAATTGGGCAGATTTCTGGATAGCTTGAAGGTCGACCCAAATAGGATTTTCTGTGGACTGGATAGAGGATGAGAGAGCAAGGAGGGAGTAAGAATGTCTTCAAGATATTTGAAAAAGGATGACATTGACGTTTACTAAAATGTGAAAA... |
Task1_train_2131 | The gene MYOC (myocilin) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Glaucoma of childhood | CAAAGTGAGACTCCTCAAAAAAAAAAAGGCTGCCTCATGGGTCTGGCCATTGGAACTCAGAGGACCCCAAATCTGTAACTGGATACAGAGATGTGGATGCCAGCAGCAAAGCTGGAATCTGCCTGATGGCTAAAATCAGGTGTGAGACACTCTGCCTGGGTTCTTCCCCCTGAGTGCCAGTGCGCCCTCAATCTCACTTGTCTCAAGCATAGATGCCACCTCAAAGACATGGGGAGAGGAAAAGCCTGAATTGGCTGACAACACATTGATGTGATGGAATCCAAGCTGAACTGGCAAATGAAGTGTTCTACCATTAGGTA... | CAAAGTGAGACTCCTCAAAAAAAAAAAGGCTGCCTCATGGGTCTGGCCATTGGAACTCAGAGGACCCCAAATCTGTAACTGGATACAGAGATGTGGATGCCAGCAGCAAAGCTGGAATCTGCCTGATGGCTAAAATCAGGTGTGAGACACTCTGCCTGGGTTCTTCCCCCTGAGTGCCAGTGCGCCCTCAATCTCACTTGTCTCAAGCATAGATGCCACCTCAAAGACATGGGGAGAGGAAAAGCCTGAATTGGCTGACAACACATTGATGTGATGGAATCCAAGCTGAACTGGCAAATGAAGTGTTCTACCATTAGGTA... |
Task1_train_2132 | The gene MYOC (myocilin), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Glaucoma of childhood | AAAATCAGGTGTGAGACACTCTGCCTGGGTTCTTCCCCCTGAGTGCCAGTGCGCCCTCAATCTCACTTGTCTCAAGCATAGATGCCACCTCAAAGACATGGGGAGAGGAAAAGCCTGAATTGGCTGACAACACATTGATGTGATGGAATCCAAGCTGAACTGGCAAATGAAGTGTTCTACCATTAGGTACAATGGCAACTGAAGAGGGAAATTAAGTTTGTTATTAAAAAATAATGCAGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAGGCCGAGATGGGAGGATTACTTGAGGCCAGGAGTTTGAGA... | AAAATCAGGTGTGAGACACTCTGCCTGGGTTCTTCCCCCTGAGTGCCAGTGCGCCCTCAATCTCACTTGTCTCAAGCATAGATGCCACCTCAAAGACATGGGGAGAGGAAAAGCCTGAATTGGCTGACAACACATTGATGTGATGGAATCCAAGCTGAACTGGCAAATGAAGTGTTCTACCATTAGGTACAATGGCAACTGAAGAGGGAAATTAAGTTTGTTATTAAAAAATAATGCAGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAGGCCGAGATGGGAGGATTACTTGAGGCCAGGAGTTTGAGA... |
Task1_train_2133 | Here is a variant affecting MYOC (myocilin) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Glaucoma of childhood | GAGACACTCTGCCTGGGTTCTTCCCCCTGAGTGCCAGTGCGCCCTCAATCTCACTTGTCTCAAGCATAGATGCCACCTCAAAGACATGGGGAGAGGAAAAGCCTGAATTGGCTGACAACACATTGATGTGATGGAATCCAAGCTGAACTGGCAAATGAAGTGTTCTACCATTAGGTACAATGGCAACTGAAGAGGGAAATTAAGTTTGTTATTAAAAAATAATGCAGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAGGCCGAGATGGGAGGATTACTTGAGGCCAGGAGTTTGAGACAAGTTGGTCAA... | GAGACACTCTGCCTGGGTTCTTCCCCCTGAGTGCCAGTGCGCCCTCAATCTCACTTGTCTCAAGCATAGATGCCACCTCAAAGACATGGGGAGAGGAAAAGCCTGAATTGGCTGACAACACATTGATGTGATGGAATCCAAGCTGAACTGGCAAATGAAGTGTTCTACCATTAGGTACAATGGCAACTGAAGAGGGAAATTAAGTTTGTTATTAAAAAATAATGCAGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAGGCCGAGATGGGAGGATTACTTGAGGCCAGGAGTTTGAGACAAGTTGGTCAA... |
Task1_train_2134 | Consider a variant on Chromosome 1 in gene MYOC (myocilin). Determine its clinical classification and disease relevance. | Pathogenic; Glaucoma of childhood | AGTGTTCTACCATTAGGTACAATGGCAACTGAAGAGGGAAATTAAGTTTGTTATTAAAAAATAATGCAGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAGGCCGAGATGGGAGGATTACTTGAGGCCAGGAGTTTGAGACAAGTTGGTCAACATAGTACAATCCTGTCTCTACAAAAAAATTTAGAAAATAATAATATTGCTATAAGGGCTGAGGATAATGGAGTTATTAATGGGTGTATTAATAACCGTAAAGTCACCGCACTAGCCCTGACTTTTCTTTTCCCCTGGTACATTAATAACTTGAGTTA... | AGTGTTCTACCATTAGGTACAATGGCAACTGAAGAGGGAAATTAAGTTTGTTATTAAAAAATAATGCAGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAGGCCGAGATGGGAGGATTACTTGAGGCCAGGAGTTTGAGACAAGTTGGTCAACATAGTACAATCCTGTCTCTACAAAAAAATTTAGAAAATAATAATATTGCTATAAGGGCTGAGGATAATGGAGTTATTAATGGGTGTATTAATAACCGTAAAGTCACCGCACTAGCCCTGACTTTTCTTTTCCCCTGGTACATTAATAACTTGAGTTA... |
Task1_train_2135 | This is a variant in MYOC (myocilin), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Glaucoma of childhood | CCATTAGGTACAATGGCAACTGAAGAGGGAAATTAAGTTTGTTATTAAAAAATAATGCAGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAGGCCGAGATGGGAGGATTACTTGAGGCCAGGAGTTTGAGACAAGTTGGTCAACATAGTACAATCCTGTCTCTACAAAAAAATTTAGAAAATAATAATATTGCTATAAGGGCTGAGGATAATGGAGTTATTAATGGGTGTATTAATAACCGTAAAGTCACCGCACTAGCCCTGACTTTTCTTTTCCCCTGGTACATTAATAACTTGAGTTATTAATGTTC... | CCATTAGGTACAATGGCAACTGAAGAGGGAAATTAAGTTTGTTATTAAAAAATAATGCAGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAGGCCGAGATGGGAGGATTACTTGAGGCCAGGAGTTTGAGACAAGTTGGTCAACATAGTACAATCCTGTCTCTACAAAAAAATTTAGAAAATAATAATATTGCTATAAGGGCTGAGGATAATGGAGTTATTAATGGGTGTATTAATAACCGTAAAGTCACCGCACTAGCCCTGACTTTTCTTTTCCCCTGGTACATTAATAACTTGAGTTATTAATGTTC... |
Task1_train_2136 | Gene MYOC (myocilin) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Glaucoma of childhood | CTGAAGAGGGAAATTAAGTTTGTTATTAAAAAATAATGCAGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAGGCCGAGATGGGAGGATTACTTGAGGCCAGGAGTTTGAGACAAGTTGGTCAACATAGTACAATCCTGTCTCTACAAAAAAATTTAGAAAATAATAATATTGCTATAAGGGCTGAGGATAATGGAGTTATTAATGGGTGTATTAATAACCGTAAAGTCACCGCACTAGCCCTGACTTTTCTTTTCCCCTGGTACATTAATAACTTGAGTTATTAATGTTCTGGAGATGATGGTCGTGAT... | CTGAAGAGGGAAATTAAGTTTGTTATTAAAAAATAATGCAGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAGGCCGAGATGGGAGGATTACTTGAGGCCAGGAGTTTGAGACAAGTTGGTCAACATAGTACAATCCTGTCTCTACAAAAAAATTTAGAAAATAATAATATTGCTATAAGGGCTGAGGATAATGGAGTTATTAATGGGTGTATTAATAACCGTAAAGTCACCGCACTAGCCCTGACTTTTCTTTTCCCCTGGTACATTAATAACTTGAGTTATTAATGTTCTGGAGATGATGGTCGTGAT... |
Task1_train_2137 | Here is a variant affecting MYOC (myocilin) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Glaucoma of childhood | GAAGAGGGAAATTAAGTTTGTTATTAAAAAATAATGCAGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAGGCCGAGATGGGAGGATTACTTGAGGCCAGGAGTTTGAGACAAGTTGGTCAACATAGTACAATCCTGTCTCTACAAAAAAATTTAGAAAATAATAATATTGCTATAAGGGCTGAGGATAATGGAGTTATTAATGGGTGTATTAATAACCGTAAAGTCACCGCACTAGCCCTGACTTTTCTTTTCCCCTGGTACATTAATAACTTGAGTTATTAATGTTCTGGAGATGATGGTCGTGATGG... | GAAGAGGGAAATTAAGTTTGTTATTAAAAAATAATGCAGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAGGCCGAGATGGGAGGATTACTTGAGGCCAGGAGTTTGAGACAAGTTGGTCAACATAGTACAATCCTGTCTCTACAAAAAAATTTAGAAAATAATAATATTGCTATAAGGGCTGAGGATAATGGAGTTATTAATGGGTGTATTAATAACCGTAAAGTCACCGCACTAGCCCTGACTTTTCTTTTCCCCTGGTACATTAATAACTTGAGTTATTAATGTTCTGGAGATGATGGTCGTGATGG... |
Task1_train_2138 | Given a variant located on Chromosome 1 and affecting MYOC (myocilin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Glaucoma of childhood | ATTAAGTTTGTTATTAAAAAATAATGCAGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAGGCCGAGATGGGAGGATTACTTGAGGCCAGGAGTTTGAGACAAGTTGGTCAACATAGTACAATCCTGTCTCTACAAAAAAATTTAGAAAATAATAATATTGCTATAAGGGCTGAGGATAATGGAGTTATTAATGGGTGTATTAATAACCGTAAAGTCACCGCACTAGCCCTGACTTTTCTTTTCCCCTGGTACATTAATAACTTGAGTTATTAATGTTCTGGAGATGATGGTCGTGATGGTTGCCCAATA... | ATTAAGTTTGTTATTAAAAAATAATGCAGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAGGCCGAGATGGGAGGATTACTTGAGGCCAGGAGTTTGAGACAAGTTGGTCAACATAGTACAATCCTGTCTCTACAAAAAAATTTAGAAAATAATAATATTGCTATAAGGGCTGAGGATAATGGAGTTATTAATGGGTGTATTAATAACCGTAAAGTCACCGCACTAGCCCTGACTTTTCTTTTCCCCTGGTACATTAATAACTTGAGTTATTAATGTTCTGGAGATGATGGTCGTGATGGTTGCCCAATA... |
Task1_train_2139 | The gene MYOC (myocilin) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Glaucoma of childhood | CTTGAGGCCAGGAGTTTGAGACAAGTTGGTCAACATAGTACAATCCTGTCTCTACAAAAAAATTTAGAAAATAATAATATTGCTATAAGGGCTGAGGATAATGGAGTTATTAATGGGTGTATTAATAACCGTAAAGTCACCGCACTAGCCCTGACTTTTCTTTTCCCCTGGTACATTAATAACTTGAGTTATTAATGTTCTGGAGATGATGGTCGTGATGGTTGCCCAATAATATGAATGTGTTTAACACTACTGAACTGTGCCTTTATAAATCCTGGGATGGTAAATTTTGTTATATTTTACTGCAGTTTTAAGAGTTG... | CTTGAGGCCAGGAGTTTGAGACAAGTTGGTCAACATAGTACAATCCTGTCTCTACAAAAAAATTTAGAAAATAATAATATTGCTATAAGGGCTGAGGATAATGGAGTTATTAATGGGTGTATTAATAACCGTAAAGTCACCGCACTAGCCCTGACTTTTCTTTTCCCCTGGTACATTAATAACTTGAGTTATTAATGTTCTGGAGATGATGGTCGTGATGGTTGCCCAATAATATGAATGTGTTTAACACTACTGAACTGTGCCTTTATAAATCCTGGGATGGTAAATTTTGTTATATTTTACTGCAGTTTTAAGAGTTG... |
Task1_train_2140 | A variant affecting Chromosome 1, within the gene DARS2 (aspartyl-tRNA synthetase 2, mitochondrial), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | GGTAATCTTGGGCACTAGCGGGCGGAGTTGAAGGGCGCTTGGACCCCAGCGGCGATCTGTGTTTGGGTTCGCGCTCTGGGAGAATTTTGGCTTTGCTCGCCTTCCTCTTTCAGAAGACTCGAAATCGGCCAGCAGGTCTGCGAGATTTGAAACGCGACTGTTACTCCTTGTTTTCCGGTTCTGGCCGCGGGAGCCTCTCGAGAAGCGTGGAAAGAGGAGAAGGGCGTATACCTTGTGACCGCCTCTGGTTGTCTTGGGCTCGCGCCTGGCGCCGCTACGTGGAGTCGCTCTCTCGTCGTCACTTTTGGCTGCCGACTTGT... | GGTAATCTTGGGCACTAGCGGGCGGAGTTGAAGGGCGCTTGGACCCCAGCGGCGATCTGTGTTTGGGTTCGCGCTCTGGGAGAATTTTGGCTTTGCTCGCCTTCCTCTTTCAGAAGACTCGAAATCGGCCAGCAGGTCTGCGAGATTTGAAACGCGACTGTTACTCCTTGTTTTCCGGTTCTGGCCGCGGGAGCCTCTCGAGAAGCGTGGAAAGAGGAGAAGGGCGTATACCTTGTGACCGCCTCTGGTTGTCTTGGGCTCGCGCCTGGCGCCGCTACGTGGAGTCGCTCTCTCGTCGTCACTTTTGGCTGCCGACTTGT... |
Task1_train_2141 | The following genetic variant occurs in DARS2 (aspartyl-tRNA synthetase 2, mitochondrial) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Mitochondrial disease | TGGACCCCAGCGGCGATCTGTGTTTGGGTTCGCGCTCTGGGAGAATTTTGGCTTTGCTCGCCTTCCTCTTTCAGAAGACTCGAAATCGGCCAGCAGGTCTGCGAGATTTGAAACGCGACTGTTACTCCTTGTTTTCCGGTTCTGGCCGCGGGAGCCTCTCGAGAAGCGTGGAAAGAGGAGAAGGGCGTATACCTTGTGACCGCCTCTGGTTGTCTTGGGCTCGCGCCTGGCGCCGCTACGTGGAGTCGCTCTCTCGTCGTCACTTTTGGCTGCCGACTTGTTGAGTAGAAGTGCAGACTGATGCTTTAAGACTCAGGGAG... | TGGACCCCAGCGGCGATCTGTGTTTGGGTTCGCGCTCTGGGAGAATTTTGGCTTTGCTCGCCTTCCTCTTTCAGAAGACTCGAAATCGGCCAGCAGGTCTGCGAGATTTGAAACGCGACTGTTACTCCTTGTTTTCCGGTTCTGGCCGCGGGAGCCTCTCGAGAAGCGTGGAAAGAGGAGAAGGGCGTATACCTTGTGACCGCCTCTGGTTGTCTTGGGCTCGCGCCTGGCGCCGCTACGTGGAGTCGCTCTCTCGTCGTCACTTTTGGCTGCCGACTTGTTGAGTAGAAGTGCAGACTGATGCTTTAAGACTCAGGGAG... |
Task1_train_2142 | This variant impacts the gene DARS2 (aspartyl-tRNA synthetase 2, mitochondrial) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Inborn genetic diseases | TGGACCCCAGCGGCGATCTGTGTTTGGGTTCGCGCTCTGGGAGAATTTTGGCTTTGCTCGCCTTCCTCTTTCAGAAGACTCGAAATCGGCCAGCAGGTCTGCGAGATTTGAAACGCGACTGTTACTCCTTGTTTTCCGGTTCTGGCCGCGGGAGCCTCTCGAGAAGCGTGGAAAGAGGAGAAGGGCGTATACCTTGTGACCGCCTCTGGTTGTCTTGGGCTCGCGCCTGGCGCCGCTACGTGGAGTCGCTCTCTCGTCGTCACTTTTGGCTGCCGACTTGTTGAGTAGAAGTGCAGACTGATGCTTTAAGACTCAGGGAG... | TGGACCCCAGCGGCGATCTGTGTTTGGGTTCGCGCTCTGGGAGAATTTTGGCTTTGCTCGCCTTCCTCTTTCAGAAGACTCGAAATCGGCCAGCAGGTCTGCGAGATTTGAAACGCGACTGTTACTCCTTGTTTTCCGGTTCTGGCCGCGGGAGCCTCTCGAGAAGCGTGGAAAGAGGAGAAGGGCGTATACCTTGTGACCGCCTCTGGTTGTCTTGGGCTCGCGCCTGGCGCCGCTACGTGGAGTCGCTCTCTCGTCGTCACTTTTGGCTGCCGACTTGTTGAGTAGAAGTGCAGACTGATGCTTTAAGACTCAGGGAG... |
Task1_train_2143 | An alteration has been detected in DARS2 (aspartyl-tRNA synthetase 2, mitochondrial) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | TGGACCCCAGCGGCGATCTGTGTTTGGGTTCGCGCTCTGGGAGAATTTTGGCTTTGCTCGCCTTCCTCTTTCAGAAGACTCGAAATCGGCCAGCAGGTCTGCGAGATTTGAAACGCGACTGTTACTCCTTGTTTTCCGGTTCTGGCCGCGGGAGCCTCTCGAGAAGCGTGGAAAGAGGAGAAGGGCGTATACCTTGTGACCGCCTCTGGTTGTCTTGGGCTCGCGCCTGGCGCCGCTACGTGGAGTCGCTCTCTCGTCGTCACTTTTGGCTGCCGACTTGTTGAGTAGAAGTGCAGACTGATGCTTTAAGACTCAGGGAG... | TGGACCCCAGCGGCGATCTGTGTTTGGGTTCGCGCTCTGGGAGAATTTTGGCTTTGCTCGCCTTCCTCTTTCAGAAGACTCGAAATCGGCCAGCAGGTCTGCGAGATTTGAAACGCGACTGTTACTCCTTGTTTTCCGGTTCTGGCCGCGGGAGCCTCTCGAGAAGCGTGGAAAGAGGAGAAGGGCGTATACCTTGTGACCGCCTCTGGTTGTCTTGGGCTCGCGCCTGGCGCCGCTACGTGGAGTCGCTCTCTCGTCGTCACTTTTGGCTGCCGACTTGTTGAGTAGAAGTGCAGACTGATGCTTTAAGACTCAGGGAG... |
Task1_train_2144 | Gene DARS2 (aspartyl-tRNA synthetase 2, mitochondrial) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; See cases | CGAGGCCAGCAGATTGAGTACAGGAGTTTGAGACCAGCCTGGGCAACAGTGAAACCTCGTCTCTACTAAAATACAAAAAATTGGCCAGGTGCGGTGGCTCACTCCTGTAATCCCAGCACTTTTGGGAGGCTGAGGCAGGTGGATCTCGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTTAGCCGGGTGTGGTGGCGGGCTCCTGTAACCCCAACTACTCAGGAGGCTGAGGCAAAAGAATCACTTGAACCCAGAGGCAGAGGTTGCAGTGGGCCGAGATCAC... | CGAGGCCAGCAGATTGAGTACAGGAGTTTGAGACCAGCCTGGGCAACAGTGAAACCTCGTCTCTACTAAAATACAAAAAATTGGCCAGGTGCGGTGGCTCACTCCTGTAATCCCAGCACTTTTGGGAGGCTGAGGCAGGTGGATCTCGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTTAGCCGGGTGTGGTGGCGGGCTCCTGTAACCCCAACTACTCAGGAGGCTGAGGCAAAAGAATCACTTGAACCCAGAGGCAGAGGTTGCAGTGGGCCGAGATCAC... |
Task1_train_2145 | This is a variant in DARS2 (aspartyl-tRNA synthetase 2, mitochondrial), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | CGAGGCCAGCAGATTGAGTACAGGAGTTTGAGACCAGCCTGGGCAACAGTGAAACCTCGTCTCTACTAAAATACAAAAAATTGGCCAGGTGCGGTGGCTCACTCCTGTAATCCCAGCACTTTTGGGAGGCTGAGGCAGGTGGATCTCGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTTAGCCGGGTGTGGTGGCGGGCTCCTGTAACCCCAACTACTCAGGAGGCTGAGGCAAAAGAATCACTTGAACCCAGAGGCAGAGGTTGCAGTGGGCCGAGATCAC... | CGAGGCCAGCAGATTGAGTACAGGAGTTTGAGACCAGCCTGGGCAACAGTGAAACCTCGTCTCTACTAAAATACAAAAAATTGGCCAGGTGCGGTGGCTCACTCCTGTAATCCCAGCACTTTTGGGAGGCTGAGGCAGGTGGATCTCGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTTAGCCGGGTGTGGTGGCGGGCTCCTGTAACCCCAACTACTCAGGAGGCTGAGGCAAAAGAATCACTTGAACCCAGAGGCAGAGGTTGCAGTGGGCCGAGATCAC... |
Task1_train_2146 | This is a variant in DARS2 (aspartyl-tRNA synthetase 2, mitochondrial), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | GCATAAGAATGTCAAAATCATGCACAGACATGTATGTTTTATACTATACACTATAAGGACTTTGCACATTTTACATATGTAAATAAATGCATAGATTCTACAAATGTGTATTTTGTGTATATCCTGATGAGTAATTTTTAAAACCCTTCCTTCTCACTCTCCAAGAAAATGCCAACAGGTGAGATTGAAATCAAAGTTAAAACAGCTGAGCTTCTGAATGCCTGCAAGAAGCTGCCCTTTGAAATTAAGAACTTCGTGAAGGTACCAACCTCTGTTATTAATAAAATAGAGTATCTAGAAAATGTTGATGACTAGTCAAG... | GCATAAGAATGTCAAAATCATGCACAGACATGTATGTTTTATACTATACACTATAAGGACTTTGCACATTTTACATATGTAAATAAATGCATAGATTCTACAAATGTGTATTTTGTGTATATCCTGATGAGTAATTTTTAAAACCCTTCCTTCTCACTCTCCAAGAAAATGCCAACAGGTGAGATTGAAATCAAAGTTAAAACAGCTGAGCTTCTGAATGCCTGCAAGAAGCTGCCCTTTGAAATTAAGAACTTCGTGAAGGTACCAACCTCTGTTATTAATAAAATAGAGTATCTAGAAAATGTTGATGACTAGTCAAG... |
Task1_train_2147 | Assess the clinical impact of this variant on gene DARS2 (aspartyl-tRNA synthetase 2, mitochondrial), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | GCCAGGCTGGTCTCGAACACCTGACCTGAAATGATCCGCACACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTACTCAGTCTCATTTGAGTTTTATAGATGTAATCATTAATAAATTGGTATTTTTTGTTTTTGTTTTTGTTTTTTTAGACAGTCTCGTTCTGTCACCTGAATCCGCCTACTGGATTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGCACCACCACACCTGGCTAATTTTTGTATTTTTTTAGTAGAGACGGGGTTTCGCATGTTGGCCCAGCTGGT... | GCCAGGCTGGTCTCGAACACCTGACCTGAAATGATCCGCACACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTACTCAGTCTCATTTGAGTTTTATAGATGTAATCATTAATAAATTGGTATTTTTTGTTTTTGTTTTTGTTTTTTTAGACAGTCTCGTTCTGTCACCTGAATCCGCCTACTGGATTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGCACCACCACACCTGGCTAATTTTTGTATTTTTTTAGTAGAGACGGGGTTTCGCATGTTGGCCCAGCTGGT... |
Task1_train_2148 | The gene DARS2 (aspartyl-tRNA synthetase 2, mitochondrial) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | CAAATGAAGAAAATTAGGAGTCTCAAATTTTTATACATCATGCATTCGTAAATTGTGGAGGGACGGATCAGACCACTGGCGAGCTGGAGGGCTGGCAGACACCCCTGGACCAACTTGGTCAAAGTGGGACCCTTTTTCCTCAAGAACAGCAGCTGTAGGTGATGAGTGCCATCATGCACTGGCTGAGTCATGATTCTTCAGGGGATATGGAAGACTGAATTAGCTTTAGGGATCTTTGTAAAATATAGAAAAGTATAGTACAAAGTCAAATATGAATATTAAAAATGTACTGTAAAGATCAAGCATGATATAAATTTATT... | CAAATGAAGAAAATTAGGAGTCTCAAATTTTTATACATCATGCATTCGTAAATTGTGGAGGGACGGATCAGACCACTGGCGAGCTGGAGGGCTGGCAGACACCCCTGGACCAACTTGGTCAAAGTGGGACCCTTTTTCCTCAAGAACAGCAGCTGTAGGTGATGAGTGCCATCATGCACTGGCTGAGTCATGATTCTTCAGGGGATATGGAAGACTGAATTAGCTTTAGGGATCTTTGTAAAATATAGAAAAGTATAGTACAAAGTCAAATATGAATATTAAAAATGTACTGTAAAGATCAAGCATGATATAAATTTATT... |
Task1_train_2149 | A variant found in Chromosome 1 affects DARS2 (aspartyl-tRNA synthetase 2, mitochondrial). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | AACTCCTGGGATCAAGCGATCCTCCTGCCCAGCCCAGCTTCCAGTCAGCAGTTTTCAGCCTTTTTCATTCCTCTCATTGTCAAACTTTTCAAGAGTCACTAAGAATACATTACTTTTTTCTTTTTCTCGCTTTGTCACCCAGACTGGAGTGCAGTGGCGTGATCTTGGTTCACTGCAACCTCCGCCTCCCAGGTTGAAGTGATTCTCCTGCCTTAGCCTCCCGAGTGGCTGGGACCACAGGCACACACCATCACGCCCAGCATTTTTTTTTTTTTTTGTATTTTTAGTAGATACAGCATTTTGCCATGTTGGCCAGGCTA... | AACTCCTGGGATCAAGCGATCCTCCTGCCCAGCCCAGCTTCCAGTCAGCAGTTTTCAGCCTTTTTCATTCCTCTCATTGTCAAACTTTTCAAGAGTCACTAAGAATACATTACTTTTTTCTTTTTCTCGCTTTGTCACCCAGACTGGAGTGCAGTGGCGTGATCTTGGTTCACTGCAACCTCCGCCTCCCAGGTTGAAGTGATTCTCCTGCCTTAGCCTCCCGAGTGGCTGGGACCACAGGCACACACCATCACGCCCAGCATTTTTTTTTTTTTTTGTATTTTTAGTAGATACAGCATTTTGCCATGTTGGCCAGGCTA... |
Task1_train_2150 | Here is a variant affecting DARS2 (aspartyl-tRNA synthetase 2, mitochondrial) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | TCCAGTCAGCAGTTTTCAGCCTTTTTCATTCCTCTCATTGTCAAACTTTTCAAGAGTCACTAAGAATACATTACTTTTTTCTTTTTCTCGCTTTGTCACCCAGACTGGAGTGCAGTGGCGTGATCTTGGTTCACTGCAACCTCCGCCTCCCAGGTTGAAGTGATTCTCCTGCCTTAGCCTCCCGAGTGGCTGGGACCACAGGCACACACCATCACGCCCAGCATTTTTTTTTTTTTTTGTATTTTTAGTAGATACAGCATTTTGCCATGTTGGCCAGGCTAGTCTTGAACCCCCAATCTCAGGTGATCTGCCTGCATCGG... | TCCAGTCAGCAGTTTTCAGCCTTTTTCATTCCTCTCATTGTCAAACTTTTCAAGAGTCACTAAGAATACATTACTTTTTTCTTTTTCTCGCTTTGTCACCCAGACTGGAGTGCAGTGGCGTGATCTTGGTTCACTGCAACCTCCGCCTCCCAGGTTGAAGTGATTCTCCTGCCTTAGCCTCCCGAGTGGCTGGGACCACAGGCACACACCATCACGCCCAGCATTTTTTTTTTTTTTTGTATTTTTAGTAGATACAGCATTTTGCCATGTTGGCCAGGCTAGTCTTGAACCCCCAATCTCAGGTGATCTGCCTGCATCGG... |
Task1_train_2151 | The following genetic variant occurs in DARS2 (aspartyl-tRNA synthetase 2, mitochondrial) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | CCAGTCAGCAGTTTTCAGCCTTTTTCATTCCTCTCATTGTCAAACTTTTCAAGAGTCACTAAGAATACATTACTTTTTTCTTTTTCTCGCTTTGTCACCCAGACTGGAGTGCAGTGGCGTGATCTTGGTTCACTGCAACCTCCGCCTCCCAGGTTGAAGTGATTCTCCTGCCTTAGCCTCCCGAGTGGCTGGGACCACAGGCACACACCATCACGCCCAGCATTTTTTTTTTTTTTTGTATTTTTAGTAGATACAGCATTTTGCCATGTTGGCCAGGCTAGTCTTGAACCCCCAATCTCAGGTGATCTGCCTGCATCGGC... | CCAGTCAGCAGTTTTCAGCCTTTTTCATTCCTCTCATTGTCAAACTTTTCAAGAGTCACTAAGAATACATTACTTTTTTCTTTTTCTCGCTTTGTCACCCAGACTGGAGTGCAGTGGCGTGATCTTGGTTCACTGCAACCTCCGCCTCCCAGGTTGAAGTGATTCTCCTGCCTTAGCCTCCCGAGTGGCTGGGACCACAGGCACACACCATCACGCCCAGCATTTTTTTTTTTTTTTGTATTTTTAGTAGATACAGCATTTTGCCATGTTGGCCAGGCTAGTCTTGAACCCCCAATCTCAGGTGATCTGCCTGCATCGGC... |
Task1_train_2152 | This variant lies on Chromosome 1 and affects the gene SERPINC1 (serpin family C member 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hereditary antithrombin deficiency | TTTGATTTCCTTCAGATGGACATAGTCTGAAAGAAATCTATCCAGCTGTTCTCTATGGTGCTTATATGATGGGTGACAGCTGTCCCCATCTACCTGTCCCTGGCACTGTGCCTTCACACTGGTCACTGTGAAAAGCAGATCACACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGC... | TTTGATTTCCTTCAGATGGACATAGTCTGAAAGAAATCTATCCAGCTGTTCTCTATGGTGCTTATATGATGGGTGACAGCTGTCCCCATCTACCTGTCCCTGGCACTGTGCCTTCACACTGGTCACTGTGAAAAGCAGATCACACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGC... |
Task1_train_2153 | Here is a mutation in SERPINC1 (serpin family C member 1) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary antithrombin deficiency | TGGACATAGTCTGAAAGAAATCTATCCAGCTGTTCTCTATGGTGCTTATATGATGGGTGACAGCTGTCCCCATCTACCTGTCCCTGGCACTGTGCCTTCACACTGGTCACTGTGAAAAGCAGATCACACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGCGATCAAATAAAGGAAA... | TGGACATAGTCTGAAAGAAATCTATCCAGCTGTTCTCTATGGTGCTTATATGATGGGTGACAGCTGTCCCCATCTACCTGTCCCTGGCACTGTGCCTTCACACTGGTCACTGTGAAAAGCAGATCACACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGCGATCAAATAAAGGAAA... |
Task1_train_2154 | Given this context: Chromosome 1, gene SERPINC1 (serpin family C member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hereditary antithrombin deficiency | TGATGGGTGACAGCTGTCCCCATCTACCTGTCCCTGGCACTGTGCCTTCACACTGGTCACTGTGAAAAGCAGATCACACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGCGATCAAATAAAGGAAAATTTCACTTCCTCTCAGTTGATATTGATTGATAGCAAGGATCAACTATGC... | TGATGGGTGACAGCTGTCCCCATCTACCTGTCCCTGGCACTGTGCCTTCACACTGGTCACTGTGAAAAGCAGATCACACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGCGATCAAATAAAGGAAAATTTCACTTCCTCTCAGTTGATATTGATTGATAGCAAGGATCAACTATGC... |
Task1_train_2155 | Assess the clinical impact of this variant on gene SERPINC1 (serpin family C member 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary antithrombin deficiency | CAGCTGTCCCCATCTACCTGTCCCTGGCACTGTGCCTTCACACTGGTCACTGTGAAAAGCAGATCACACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGCGATCAAATAAAGGAAAATTTCACTTCCTCTCAGTTGATATTGATTGATAGCAAGGATCAACTATGCCCACCTCTTC... | CAGCTGTCCCCATCTACCTGTCCCTGGCACTGTGCCTTCACACTGGTCACTGTGAAAAGCAGATCACACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGCGATCAAATAAAGGAAAATTTCACTTCCTCTCAGTTGATATTGATTGATAGCAAGGATCAACTATGCCCACCTCTTC... |
Task1_train_2156 | A mutation found in SERPINC1 (serpin family C member 1) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hereditary antithrombin deficiency | TGCCTTCACACTGGTCACTGTGAAAAGCAGATCACACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGCGATCAAATAAAGGAAAATTTCACTTCCTCTCAGTTGATATTGATTGATAGCAAGGATCAACTATGCCCACCTCTTCCTAAGTTTCTAAAGGCTACCATAATATTTGTA... | TGCCTTCACACTGGTCACTGTGAAAAGCAGATCACACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGCGATCAAATAAAGGAAAATTTCACTTCCTCTCAGTTGATATTGATTGATAGCAAGGATCAACTATGCCCACCTCTTCCTAAGTTTCTAAAGGCTACCATAATATTTGTA... |
Task1_train_2157 | Chromosome 1 houses a mutation in gene SERPINC1 (serpin family C member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hereditary antithrombin deficiency | TGCCTTCACACTGGTCACTGTGAAAAGCAGATCACACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGCGATCAAATAAAGGAAAATTTCACTTCCTCTCAGTTGATATTGATTGATAGCAAGGATCAACTATGCCCACCTCTTCCTAAGTTTCTAAAGGCTACCATAATATTTGTA... | TGCCTTCACACTGGTCACTGTGAAAAGCAGATCACACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGCGATCAAATAAAGGAAAATTTCACTTCCTCTCAGTTGATATTGATTGATAGCAAGGATCAACTATGCCCACCTCTTCCTAAGTTTCTAAAGGCTACCATAATATTTGTA... |
Task1_train_2158 | Gene SERPINC1 (serpin family C member 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hereditary antithrombin deficiency | GCCTTCACACTGGTCACTGTGAAAAGCAGATCACACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGCGATCAAATAAAGGAAAATTTCACTTCCTCTCAGTTGATATTGATTGATAGCAAGGATCAACTATGCCCACCTCTTCCTAAGTTTCTAAAGGCTACCATAATATTTGTAA... | GCCTTCACACTGGTCACTGTGAAAAGCAGATCACACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGCGATCAAATAAAGGAAAATTTCACTTCCTCTCAGTTGATATTGATTGATAGCAAGGATCAACTATGCCCACCTCTTCCTAAGTTTCTAAAGGCTACCATAATATTTGTAA... |
Task1_train_2159 | This sequence variant lies in SERPINC1 (serpin family C member 1) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary antithrombin deficiency | CTTCACACTGGTCACTGTGAAAAGCAGATCACACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGCGATCAAATAAAGGAAAATTTCACTTCCTCTCAGTTGATATTGATTGATAGCAAGGATCAACTATGCCCACCTCTTCCTAAGTTTCTAAAGGCTACCATAATATTTGTAAAC... | CTTCACACTGGTCACTGTGAAAAGCAGATCACACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGCGATCAAATAAAGGAAAATTTCACTTCCTCTCAGTTGATATTGATTGATAGCAAGGATCAACTATGCCCACCTCTTCCTAAGTTTCTAAAGGCTACCATAATATTTGTAAAC... |
Task1_train_2160 | A variant on Chromosome 1 in gene SERPINC1 (serpin family C member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary antithrombin deficiency | AGATCACACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGCGATCAAATAAAGGAAAATTTCACTTCCTCTCAGTTGATATTGATTGATAGCAAGGATCAACTATGCCCACCTCTTCCTAAGTTTCTAAAGGCTACCATAATATTTGTAAACAACAAATTTATCTAATATTTTTTAC... | AGATCACACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGCGATCAAATAAAGGAAAATTTCACTTCCTCTCAGTTGATATTGATTGATAGCAAGGATCAACTATGCCCACCTCTTCCTAAGTTTCTAAAGGCTACCATAATATTTGTAAACAACAAATTTATCTAATATTTTTTAC... |
Task1_train_2161 | This alteration occurs within gene SERPINC1 (serpin family C member 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Hereditary antithrombin deficiency | CACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGCGATCAAATAAAGGAAAATTTCACTTCCTCTCAGTTGATATTGATTGATAGCAAGGATCAACTATGCCCACCTCTTCCTAAGTTTCTAAAGGCTACCATAATATTTGTAAACAACAAATTTATCTAATATTTTTTACAACTTG... | CACTGGACTCAGAGGCCAGAATCCAGGACAAGATCCCCCTTCTCATCTTGAGCCCATCACATCTTTGTATAGCTGTTAATGTAGCATTTACTTCTCTATGGGAAACTCTTGGGTTTTTAACCCAAGAAGAAATTGTAAAGCATTTAAACTAGTCAGAAAATAAGATTCTGATGGTAGCGATCAAATAAAGGAAAATTTCACTTCCTCTCAGTTGATATTGATTGATAGCAAGGATCAACTATGCCCACCTCTTCCTAAGTTTCTAAAGGCTACCATAATATTTGTAAACAACAAATTTATCTAATATTTTTTACAACTTG... |
Task1_train_2162 | Here’s a variant in SERPINC1 (serpin family C member 1) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary antithrombin deficiency | TGGAAGGAAGACCGGAGAAGTCTTTGTGAGATGGGAGAAAGTTGGCTTCAACCCACAGATGGGAATTCAGTTTGGATTAAGAGATCCTTTGGGGCTTTTTGAAACATAAGAAGAAATCCTAAATCTTCACCTAATCATACTCTCACAATGAATATGTGTTAAAAATAATAAAGTACTTTGGGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCCAAGGTGTACAGATCACCTGAGGTCAGGAGTTGGAGACACTCTAACTAATATGGTGAAACCTTGTCTCTATCGTGAAAATACAAAAATTAG... | TGGAAGGAAGACCGGAGAAGTCTTTGTGAGATGGGAGAAAGTTGGCTTCAACCCACAGATGGGAATTCAGTTTGGATTAAGAGATCCTTTGGGGCTTTTTGAAACATAAGAAGAAATCCTAAATCTTCACCTAATCATACTCTCACAATGAATATGTGTTAAAAATAATAAAGTACTTTGGGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCCAAGGTGTACAGATCACCTGAGGTCAGGAGTTGGAGACACTCTAACTAATATGGTGAAACCTTGTCTCTATCGTGAAAATACAAAAATTAG... |
Task1_train_2163 | Mutation context: Chromosome 1, Gene SERPINC1 (serpin family C member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hereditary antithrombin deficiency | CCTCCCACCTCAGCCTCCCAAAGTGCTGGTATTACAGGCGTGAGCCACCCTGGCCAGCCAACTTCTTTAAAAGATATTTTAATGTGCCAGGTGCGGTGGCTGACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGCGGATCACAAGGTCAAGAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCATCTCTACTAAGAATACAGAAATTACCAGGTATGGTGACGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCA... | CCTCCCACCTCAGCCTCCCAAAGTGCTGGTATTACAGGCGTGAGCCACCCTGGCCAGCCAACTTCTTTAAAAGATATTTTAATGTGCCAGGTGCGGTGGCTGACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGCGGATCACAAGGTCAAGAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCATCTCTACTAAGAATACAGAAATTACCAGGTATGGTGACGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCA... |
Task1_train_2164 | This sequence change occurs on Chromosome 1, altering SERPINC1 (serpin family C member 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary antithrombin deficiency | TCTCCATCAGCCTTGTAGAACAGTTCCTTCCTTGTGTTCTCAGGGCTGAACTTTGACTTCCACAGGCCCTGGAAGAGAATCACAAAGTAAGAACACAAACATTCATAGGAGGATAGTTATTGACACAAGACATATCCATATTATAGTGTTACATTAATATATAATTATTCGGAAAAAAGACTGGCGGGATATGCACAAAAAGGTTAACAATGGCTGTGTCAGAATGATGGAATTATGAGTAGGTTTATTCATAACTGTCAAACCTTGGAAGCAGCCAAAATGTCCTTCAGTAGATGAATAGACAGACTGTGGTACATCCA... | TCTCCATCAGCCTTGTAGAACAGTTCCTTCCTTGTGTTCTCAGGGCTGAACTTTGACTTCCACAGGCCCTGGAAGAGAATCACAAAGTAAGAACACAAACATTCATAGGAGGATAGTTATTGACACAAGACATATCCATATTATAGTGTTACATTAATATATAATTATTCGGAAAAAAGACTGGCGGGATATGCACAAAAAGGTTAACAATGGCTGTGTCAGAATGATGGAATTATGAGTAGGTTTATTCATAACTGTCAAACCTTGGAAGCAGCCAAAATGTCCTTCAGTAGATGAATAGACAGACTGTGGTACATCCA... |
Task1_train_2165 | This alteration occurs within gene SERPINC1 (serpin family C member 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Hereditary antithrombin deficiency | GGCCCTGGAAGAGAATCACAAAGTAAGAACACAAACATTCATAGGAGGATAGTTATTGACACAAGACATATCCATATTATAGTGTTACATTAATATATAATTATTCGGAAAAAAGACTGGCGGGATATGCACAAAAAGGTTAACAATGGCTGTGTCAGAATGATGGAATTATGAGTAGGTTTATTCATAACTGTCAAACCTTGGAAGCAGCCAAAATGTCCTTCAGTAGATGAATAGACAGACTGTGGTACATCCAGACCAAATGTAATGCTATTCCATGCTAAGAAGAAATGAGTGACAAAGCCACGAAAACACAAAGG... | GGCCCTGGAAGAGAATCACAAAGTAAGAACACAAACATTCATAGGAGGATAGTTATTGACACAAGACATATCCATATTATAGTGTTACATTAATATATAATTATTCGGAAAAAAGACTGGCGGGATATGCACAAAAAGGTTAACAATGGCTGTGTCAGAATGATGGAATTATGAGTAGGTTTATTCATAACTGTCAAACCTTGGAAGCAGCCAAAATGTCCTTCAGTAGATGAATAGACAGACTGTGGTACATCCAGACCAAATGTAATGCTATTCCATGCTAAGAAGAAATGAGTGACAAAGCCACGAAAACACAAAGG... |
Task1_train_2166 | A change on Chromosome 1 affects gene SERPINC1 (serpin family C member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hereditary antithrombin deficiency | CCCCCAATGCCCACCTTCACCATCCCCAAGGCAAAATGGGTGAGGCTGTTCCCCTCCTGCCCTTTCCATGCTCTCTCCTCAGGCTACAAAAGGCCTTTTGGTTTTATCTGTTCTCTGCCTTTGGTTTTCCTGATTTTGCTCCAATAGGCACTTTTTTTAGGGGGGGATTATGCTTTTGATCAAAAGCTTGGTGCTGAATCTCTCTTTTCTCCAGAGAGATTCAGTCTCACCCTGCTTTCCCAACACATGGCGTTTGTGTAGAGGGGAGGACCAAAGGAACATGTGTGGTTTGGAAGCAGTGTTCTGTTCTGTTCTTCTTG... | CCCCCAATGCCCACCTTCACCATCCCCAAGGCAAAATGGGTGAGGCTGTTCCCCTCCTGCCCTTTCCATGCTCTCTCCTCAGGCTACAAAAGGCCTTTTGGTTTTATCTGTTCTCTGCCTTTGGTTTTCCTGATTTTGCTCCAATAGGCACTTTTTTTAGGGGGGGATTATGCTTTTGATCAAAAGCTTGGTGCTGAATCTCTCTTTTCTCCAGAGAGATTCAGTCTCACCCTGCTTTCCCAACACATGGCGTTTGTGTAGAGGGGAGGACCAAAGGAACATGTGTGGTTTGGAAGCAGTGTTCTGTTCTGTTCTTCTTG... |
Task1_train_2167 | A variant has been detected on Chromosome 1 in SERPINC1 (serpin family C member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary antithrombin deficiency | GGTGAGGCTGTTCCCCTCCTGCCCTTTCCATGCTCTCTCCTCAGGCTACAAAAGGCCTTTTGGTTTTATCTGTTCTCTGCCTTTGGTTTTCCTGATTTTGCTCCAATAGGCACTTTTTTTAGGGGGGGATTATGCTTTTGATCAAAAGCTTGGTGCTGAATCTCTCTTTTCTCCAGAGAGATTCAGTCTCACCCTGCTTTCCCAACACATGGCGTTTGTGTAGAGGGGAGGACCAAAGGAACATGTGTGGTTTGGAAGCAGTGTTCTGTTCTGTTCTTCTTGTAGGAAGGGTTACATTTAAGATCTTACCTGGGGACAGA... | GGTGAGGCTGTTCCCCTCCTGCCCTTTCCATGCTCTCTCCTCAGGCTACAAAAGGCCTTTTGGTTTTATCTGTTCTCTGCCTTTGGTTTTCCTGATTTTGCTCCAATAGGCACTTTTTTTAGGGGGGGATTATGCTTTTGATCAAAAGCTTGGTGCTGAATCTCTCTTTTCTCCAGAGAGATTCAGTCTCACCCTGCTTTCCCAACACATGGCGTTTGTGTAGAGGGGAGGACCAAAGGAACATGTGTGGTTTGGAAGCAGTGTTCTGTTCTGTTCTTCTTGTAGGAAGGGTTACATTTAAGATCTTACCTGGGGACAGA... |
Task1_train_2168 | This alteration in SERPINC1 (serpin family C member 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary antithrombin deficiency | TAGGCACTTTTTTTAGGGGGGGATTATGCTTTTGATCAAAAGCTTGGTGCTGAATCTCTCTTTTCTCCAGAGAGATTCAGTCTCACCCTGCTTTCCCAACACATGGCGTTTGTGTAGAGGGGAGGACCAAAGGAACATGTGTGGTTTGGAAGCAGTGTTCTGTTCTGTTCTTCTTGTAGGAAGGGTTACATTTAAGATCTTACCTGGGGACAGAGACATGAGTGATATGGAAGTACTTTGAGACCAGTACCAATGTATACAAAAATGACTGAAGGGCCCAGAGAAGGCAGTATTATGTGTCTTCAGAGTTTTTAAATCTA... | TAGGCACTTTTTTTAGGGGGGGATTATGCTTTTGATCAAAAGCTTGGTGCTGAATCTCTCTTTTCTCCAGAGAGATTCAGTCTCACCCTGCTTTCCCAACACATGGCGTTTGTGTAGAGGGGAGGACCAAAGGAACATGTGTGGTTTGGAAGCAGTGTTCTGTTCTGTTCTTCTTGTAGGAAGGGTTACATTTAAGATCTTACCTGGGGACAGAGACATGAGTGATATGGAAGTACTTTGAGACCAGTACCAATGTATACAAAAATGACTGAAGGGCCCAGAGAAGGCAGTATTATGTGTCTTCAGAGTTTTTAAATCTA... |
Task1_train_2169 | Consider this mutation in SERPINC1 (serpin family C member 1) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Hereditary antithrombin deficiency | GGGAGGACCAAAGGAACATGTGTGGTTTGGAAGCAGTGTTCTGTTCTGTTCTTCTTGTAGGAAGGGTTACATTTAAGATCTTACCTGGGGACAGAGACATGAGTGATATGGAAGTACTTTGAGACCAGTACCAATGTATACAAAAATGACTGAAGGGCCCAGAGAAGGCAGTATTATGTGTCTTCAGAGTTTTTAAATCTACAATTTCTTTCAAAGAGTGAAGACTTGGGTTAACTCACCCCAGAGCCCTGAGCAAAGGTGATGAAGTTCCATGGAAATTGACCACTAGAATAGAAGGAACCCTCCTAAGACCCACAGAC... | GGGAGGACCAAAGGAACATGTGTGGTTTGGAAGCAGTGTTCTGTTCTGTTCTTCTTGTAGGAAGGGTTACATTTAAGATCTTACCTGGGGACAGAGACATGAGTGATATGGAAGTACTTTGAGACCAGTACCAATGTATACAAAAATGACTGAAGGGCCCAGAGAAGGCAGTATTATGTGTCTTCAGAGTTTTTAAATCTACAATTTCTTTCAAAGAGTGAAGACTTGGGTTAACTCACCCCAGAGCCCTGAGCAAAGGTGATGAAGTTCCATGGAAATTGACCACTAGAATAGAAGGAACCCTCCTAAGACCCACAGAC... |
Task1_train_2170 | Here is a variant affecting SERPINC1 (serpin family C member 1) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hereditary antithrombin deficiency | TTCTTCTTGTAGGAAGGGTTACATTTAAGATCTTACCTGGGGACAGAGACATGAGTGATATGGAAGTACTTTGAGACCAGTACCAATGTATACAAAAATGACTGAAGGGCCCAGAGAAGGCAGTATTATGTGTCTTCAGAGTTTTTAAATCTACAATTTCTTTCAAAGAGTGAAGACTTGGGTTAACTCACCCCAGAGCCCTGAGCAAAGGTGATGAAGTTCCATGGAAATTGACCACTAGAATAGAAGGAACCCTCCTAAGACCCACAGACTTTAGTGTCCAAGTTTCAAATAAGCACCGTATACCATCTTGAAGGGAC... | TTCTTCTTGTAGGAAGGGTTACATTTAAGATCTTACCTGGGGACAGAGACATGAGTGATATGGAAGTACTTTGAGACCAGTACCAATGTATACAAAAATGACTGAAGGGCCCAGAGAAGGCAGTATTATGTGTCTTCAGAGTTTTTAAATCTACAATTTCTTTCAAAGAGTGAAGACTTGGGTTAACTCACCCCAGAGCCCTGAGCAAAGGTGATGAAGTTCCATGGAAATTGACCACTAGAATAGAAGGAACCCTCCTAAGACCCACAGACTTTAGTGTCCAAGTTTCAAATAAGCACCGTATACCATCTTGAAGGGAC... |
Task1_train_2171 | A variant was discovered in gene MRPS14 (mitochondrial ribosomal protein S14), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | CAAAATGCCATAGACTAAGAATTTATAAATAATATTTACTTCTTGCACTTCTGGAGGCTGGAGAAGTCTAAGATTTGGCACCAGCAGATTGGTGTTTGGTAAGGGCTTGCTTTCTGCTTCCAGTACGGTGCCTTCTCGCAGTATCAGAAGGGTAAAAGGGACAAACTCTCTCCCTCAAGCCCTCTTAGAAAGGCACTGATCCCATCCATGAGTGTGGAGCCCTCCTGGCCTAATCACCCCTAAGGGCCCCACCTCTTAATAATACCAACGCATTGTGGATTAGATTTTAATGTGAATTTTGGAAGTACACAAAATGTTCA... | CAAAATGCCATAGACTAAGAATTTATAAATAATATTTACTTCTTGCACTTCTGGAGGCTGGAGAAGTCTAAGATTTGGCACCAGCAGATTGGTGTTTGGTAAGGGCTTGCTTTCTGCTTCCAGTACGGTGCCTTCTCGCAGTATCAGAAGGGTAAAAGGGACAAACTCTCTCCCTCAAGCCCTCTTAGAAAGGCACTGATCCCATCCATGAGTGTGGAGCCCTCCTGGCCTAATCACCCCTAAGGGCCCCACCTCTTAATAATACCAACGCATTGTGGATTAGATTTTAATGTGAATTTTGGAAGTACACAAAATGTTCA... |
Task1_train_2172 | Given this context: Chromosome 1, gene TNR (tenascin R) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | TCTGGGGTCTAAGACAGGATGGGATTAGGCAAAAGACTCCATCAGGGCCAGAAAAGAGCCACTGTTCTTGAAAGGTAACAGGACATGTGGCTGGTATAATAAGAGTGTCAGAAGATGAGAATCTTTGGCCCATTATAAAGGACTTGGGGCTGGATGCAGTGGCTGTAGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGAGGATTGTTCAAGGCCAGGAGTTTGTGACCAGCCTGGACAACACAGTGAGACCCCCATCTCTACAAAAAATAAAAGAAAAATCAGCCAGGTATGGTGGCTCATGCCTGTAGTCCCAG... | TCTGGGGTCTAAGACAGGATGGGATTAGGCAAAAGACTCCATCAGGGCCAGAAAAGAGCCACTGTTCTTGAAAGGTAACAGGACATGTGGCTGGTATAATAAGAGTGTCAGAAGATGAGAATCTTTGGCCCATTATAAAGGACTTGGGGCTGGATGCAGTGGCTGTAGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGAGGATTGTTCAAGGCCAGGAGTTTGTGACCAGCCTGGACAACACAGTGAGACCCCCATCTCTACAAAAAATAAAAGAAAAATCAGCCAGGTATGGTGGCTCATGCCTGTAGTCCCAG... |
Task1_train_2173 | The gene TNR (tenascin R) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus | ACAGGAAGTAAAATGGACACTATGATCTGTGCCACAAAAGAAGGAGTGGCCACTTCTCCCACAGGCAATAGGGGAGAAAACTGGTGAGGACTGGCTCTGTGGAGGAGAAGGTGCTTAGCTGTGTCTCTGAATATACACAGATGGCACTCACCACACAAGGAATGTGGGGAAAGGAGGACAGTTGGCTAGGAGTGCTCCTGGCAGAGGAAGCATCGGGGGTTTTGCATGTGTGGAGTTTGGTGTTGGAGAGGAGTCGGGGGAAGAGCAGGTGAGGTACTTAGGGTGTAGAGGAGTCTTCAGAGGCTGGTGAGAGAGGGCCT... | ACAGGAAGTAAAATGGACACTATGATCTGTGCCACAAAAGAAGGAGTGGCCACTTCTCCCACAGGCAATAGGGGAGAAAACTGGTGAGGACTGGCTCTGTGGAGGAGAAGGTGCTTAGCTGTGTCTCTGAATATACACAGATGGCACTCACCACACAAGGAATGTGGGGAAAGGAGGACAGTTGGCTAGGAGTGCTCCTGGCAGAGGAAGCATCGGGGGTTTTGCATGTGTGGAGTTTGGTGTTGGAGAGGAGTCGGGGGAAGAGCAGGTGAGGTACTTAGGGTGTAGAGGAGTCTTCAGAGGCTGGTGAGAGAGGGCCT... |
Task1_train_2174 | This mutation occurs in PAPPA2 (pappalysin 2) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Short stature, Dauber-Argente type | ATAAATCATTAATGAACTAAGTATATATGATTAATAAGAAATACTAGTCTTTGCTTTGAAAAGGTGAAGAACCAGGTCATATTTAAAATATACACTATAAGAGTAATCTCTAACAGAGCAGGCACAAACACATGTATTTATAAATAGGTCTAATGAACACTGCTTAACCACCAACTATTTTCTAAATGCTATGGGGATTAGAAAACTAAAACAGACATATTCCCTGCTTAAACATCATCTTCATGGTGAGAATTTTCTGGCTTCATAACCTAAAATAGCTCCCAGCCTCACCTCATAATCCTGTATTCCCTTATGTTCCT... | ATAAATCATTAATGAACTAAGTATATATGATTAATAAGAAATACTAGTCTTTGCTTTGAAAAGGTGAAGAACCAGGTCATATTTAAAATATACACTATAAGAGTAATCTCTAACAGAGCAGGCACAAACACATGTATTTATAAATAGGTCTAATGAACACTGCTTAACCACCAACTATTTTCTAAATGCTATGGGGATTAGAAAACTAAAACAGACATATTCCCTGCTTAAACATCATCTTCATGGTGAGAATTTTCTGGCTTCATAACCTAAAATAGCTCCCAGCCTCACCTCATAATCCTGTATTCCCTTATGTTCCT... |
Task1_train_2175 | A variant found in Chromosome 1 affects AXDND1, NPHS2 (axonemal dynein light chain domain containing 1| NPHS2 stomatin family member, podocin). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Nephrotic syndrome, type 2 | AACTGCAACAGTTGGTTAATTTGAAAGACAACGCATGCCAGCAAGCAGACCTGAAAGCCCTCTGGCATGCCAATGAGAAATTTAAATATTGACCTGTGCCAGACATCAGAGGAAACCAAACAATAGGAGATACCATAGGCACTCCCCAGATATGCAAGCAAAATCTGCCTTTGACAAAAAACCAGTGTTATAAGGAAGTATGAAGAGTCATAAAAGCCATTTTTACCCTGGTGTTCACTTCTGCTTGTTCTGCTTTTGGCTTCTGTTATGCCTGACCCAGCATGACTCTACCTTCTTCTTCATTACACATGCCAAAATTT... | AACTGCAACAGTTGGTTAATTTGAAAGACAACGCATGCCAGCAAGCAGACCTGAAAGCCCTCTGGCATGCCAATGAGAAATTTAAATATTGACCTGTGCCAGACATCAGAGGAAACCAAACAATAGGAGATACCATAGGCACTCCCCAGATATGCAAGCAAAATCTGCCTTTGACAAAAAACCAGTGTTATAAGGAAGTATGAAGAGTCATAAAAGCCATTTTTACCCTGGTGTTCACTTCTGCTTGTTCTGCTTTTGGCTTCTGTTATGCCTGACCCAGCATGACTCTACCTTCTTCTTCATTACACATGCCAAAATTT... |
Task1_train_2176 | Gene AXDND1, NPHS2 (axonemal dynein light chain domain containing 1| NPHS2 stomatin family member, podocin), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Nephrotic syndrome, type 2 | AAACATTTAAGTGTCACTTTAGGTAACTATCAGGGTTAGGTGTGAGGAATTCAGGGTGGAGCAAAAAGATTGAGTGTGGTTGAGGAAAACTAAGACTTGGTAGTATCATTGGAGAGAAGACTGCATCTTTGGGACAGAAGAGCAATAGAGTGTGACAAGCCCAATGATAGGTGCTTGTAGGAAGGGCTGTGGGAGCTGTGGCAACCTTGCCAAAGGGGTCAGAGGACATACAGTGAAAGGGACATCTGAACCAAGTTCCCAGAAGTCAAAATTTAACCACATCTAGACTCAAAATTCTTTCCAAAGTAGAATGTTGACCA... | AAACATTTAAGTGTCACTTTAGGTAACTATCAGGGTTAGGTGTGAGGAATTCAGGGTGGAGCAAAAAGATTGAGTGTGGTTGAGGAAAACTAAGACTTGGTAGTATCATTGGAGAGAAGACTGCATCTTTGGGACAGAAGAGCAATAGAGTGTGACAAGCCCAATGATAGGTGCTTGTAGGAAGGGCTGTGGGAGCTGTGGCAACCTTGCCAAAGGGGTCAGAGGACATACAGTGAAAGGGACATCTGAACCAAGTTCCCAGAAGTCAAAATTTAACCACATCTAGACTCAAAATTCTTTCCAAAGTAGAATGTTGACCA... |
Task1_train_2177 | The gene NPHS2 (NPHS2 stomatin family member, podocin) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Nephrotic syndrome, type 2 | TTTGGTTTTAAGCCACCATGTTTGTGGTAGTTTGTTACAGAAGTAATAGGAACTAATACAGATATATTTTAAAAATCTGTTTTAAAATGCACTGAGTTGAGAACCAGTCTCTAGTCTCTCTTCCAGATGTCTTTCATTTATAGGATGTTTTCACTTCTACAGCTGATGCTGGTGGTTCCAGTTTCCTCCTGCTTCTCAGTCCCATCCACCCCCTTGATTGAAGTTGGAAACAGGAGAGGGAAGAAAATCGACTGTGGATTCTGGAAAGGAGGGGCAGGGCATGGAGCTCTCCATGTTGACCCAAACTCTTCTTTTTACAC... | TTTGGTTTTAAGCCACCATGTTTGTGGTAGTTTGTTACAGAAGTAATAGGAACTAATACAGATATATTTTAAAAATCTGTTTTAAAATGCACTGAGTTGAGAACCAGTCTCTAGTCTCTCTTCCAGATGTCTTTCATTTATAGGATGTTTTCACTTCTACAGCTGATGCTGGTGGTTCCAGTTTCCTCCTGCTTCTCAGTCCCATCCACCCCCTTGATTGAAGTTGGAAACAGGAGAGGGAAGAAAATCGACTGTGGATTCTGGAAAGGAGGGGCAGGGCATGGAGCTCTCCATGTTGACCCAAACTCTTCTTTTTACAC... |
Task1_train_2178 | This variant affects the gene NPHS2 (NPHS2 stomatin family member, podocin) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Nephrotic syndrome, type 2 | TTTTATATTGATCATAAGGACATATTTTAAGGATTTAGCTATAAGGATGTTACTCACAGTATTGCTAATTGGAATACAAATTGGAAAGAATTTAACATCAACAATAGGGAATTGGTTGAGTAAATTGTGATACAGCCACTAAATGAAATGCTGTATGTCCATTTAAAATAAAGAGATAGAAGCATTTAGCTAATATATGAAAAGATGATCACAATATATTGTTGGGTTAAGAAAGACACATTACAAAACAGTATATATGGTATGATATATGTGTGTATATATATATACCCATCTGTAAATATAACCACATACACTGAAAA... | TTTTATATTGATCATAAGGACATATTTTAAGGATTTAGCTATAAGGATGTTACTCACAGTATTGCTAATTGGAATACAAATTGGAAAGAATTTAACATCAACAATAGGGAATTGGTTGAGTAAATTGTGATACAGCCACTAAATGAAATGCTGTATGTCCATTTAAAATAAAGAGATAGAAGCATTTAGCTAATATATGAAAAGATGATCACAATATATTGTTGGGTTAAGAAAGACACATTACAAAACAGTATATATGGTATGATATATGTGTGTATATATATATACCCATCTGTAAATATAACCACATACACTGAAAA... |
Task1_train_2179 | This mutation is located in gene NPHS2 (NPHS2 stomatin family member, podocin) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Idiopathic nephrotic syndrome | TTTTATATTGATCATAAGGACATATTTTAAGGATTTAGCTATAAGGATGTTACTCACAGTATTGCTAATTGGAATACAAATTGGAAAGAATTTAACATCAACAATAGGGAATTGGTTGAGTAAATTGTGATACAGCCACTAAATGAAATGCTGTATGTCCATTTAAAATAAAGAGATAGAAGCATTTAGCTAATATATGAAAAGATGATCACAATATATTGTTGGGTTAAGAAAGACACATTACAAAACAGTATATATGGTATGATATATGTGTGTATATATATATACCCATCTGTAAATATAACCACATACACTGAAAA... | TTTTATATTGATCATAAGGACATATTTTAAGGATTTAGCTATAAGGATGTTACTCACAGTATTGCTAATTGGAATACAAATTGGAAAGAATTTAACATCAACAATAGGGAATTGGTTGAGTAAATTGTGATACAGCCACTAAATGAAATGCTGTATGTCCATTTAAAATAAAGAGATAGAAGCATTTAGCTAATATATGAAAAGATGATCACAATATATTGTTGGGTTAAGAAAGACACATTACAAAACAGTATATATGGTATGATATATGTGTGTATATATATATACCCATCTGTAAATATAACCACATACACTGAAAA... |
Task1_train_2180 | A variant on Chromosome 1 in gene NPHS2 (NPHS2 stomatin family member, podocin) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Nephrotic syndrome, type 2 | TAAGGATTTAGCTATAAGGATGTTACTCACAGTATTGCTAATTGGAATACAAATTGGAAAGAATTTAACATCAACAATAGGGAATTGGTTGAGTAAATTGTGATACAGCCACTAAATGAAATGCTGTATGTCCATTTAAAATAAAGAGATAGAAGCATTTAGCTAATATATGAAAAGATGATCACAATATATTGTTGGGTTAAGAAAGACACATTACAAAACAGTATATATGGTATGATATATGTGTGTATATATATATACCCATCTGTAAATATAACCACATACACTGAAAAATCTGAAAGGATATACTCCAAAATATC... | TAAGGATTTAGCTATAAGGATGTTACTCACAGTATTGCTAATTGGAATACAAATTGGAAAGAATTTAACATCAACAATAGGGAATTGGTTGAGTAAATTGTGATACAGCCACTAAATGAAATGCTGTATGTCCATTTAAAATAAAGAGATAGAAGCATTTAGCTAATATATGAAAAGATGATCACAATATATTGTTGGGTTAAGAAAGACACATTACAAAACAGTATATATGGTATGATATATGTGTGTATATATATATACCCATCTGTAAATATAACCACATACACTGAAAAATCTGAAAGGATATACTCCAAAATATC... |
Task1_train_2181 | A variant has been detected on Chromosome 1 in NPHS2 (NPHS2 stomatin family member, podocin). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Nephrotic syndrome, type 2 | GAGGCTGGGAACCATGTTTTGTTTGTCTTCATGAGGTTTACAATTTTATGAGGCCAGAACACTGCCTTGCTTGAAACAATCAGAATGAATGACTGTATGTGGTTCTTAGAGCATGCCAAGCAATTCCCAATTGCTTGGTTTCCTAGCATTACTTGTTTCTTACCTGCTTTTATTGGAAAAAACAAATTCTCCCCAGAGATGAAGGGGAGTCTTATTTCTTCAAGACCTTGCTCAAATATAACTGCCTGGTTCTGCTTTTGTTTCCTCTCCCTAATTGGCTTCTTAGGGCTTACCATCTTAAGTGACCAGATCTGAGAGCC... | GAGGCTGGGAACCATGTTTTGTTTGTCTTCATGAGGTTTACAATTTTATGAGGCCAGAACACTGCCTTGCTTGAAACAATCAGAATGAATGACTGTATGTGGTTCTTAGAGCATGCCAAGCAATTCCCAATTGCTTGGTTTCCTAGCATTACTTGTTTCTTACCTGCTTTTATTGGAAAAAACAAATTCTCCCCAGAGATGAAGGGGAGTCTTATTTCTTCAAGACCTTGCTCAAATATAACTGCCTGGTTCTGCTTTTGTTTCCTCTCCCTAATTGGCTTCTTAGGGCTTACCATCTTAAGTGACCAGATCTGAGAGCC... |
Task1_train_2182 | Given a variant located on Chromosome 1 and affecting NPHS2 (NPHS2 stomatin family member, podocin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Nephrotic syndrome, type 2 | TTTGTTTGTCTTCATGAGGTTTACAATTTTATGAGGCCAGAACACTGCCTTGCTTGAAACAATCAGAATGAATGACTGTATGTGGTTCTTAGAGCATGCCAAGCAATTCCCAATTGCTTGGTTTCCTAGCATTACTTGTTTCTTACCTGCTTTTATTGGAAAAAACAAATTCTCCCCAGAGATGAAGGGGAGTCTTATTTCTTCAAGACCTTGCTCAAATATAACTGCCTGGTTCTGCTTTTGTTTCCTCTCCCTAATTGGCTTCTTAGGGCTTACCATCTTAAGTGACCAGATCTGAGAGCCTTTCCCAAAAACCATGG... | TTTGTTTGTCTTCATGAGGTTTACAATTTTATGAGGCCAGAACACTGCCTTGCTTGAAACAATCAGAATGAATGACTGTATGTGGTTCTTAGAGCATGCCAAGCAATTCCCAATTGCTTGGTTTCCTAGCATTACTTGTTTCTTACCTGCTTTTATTGGAAAAAACAAATTCTCCCCAGAGATGAAGGGGAGTCTTATTTCTTCAAGACCTTGCTCAAATATAACTGCCTGGTTCTGCTTTTGTTTCCTCTCCCTAATTGGCTTCTTAGGGCTTACCATCTTAAGTGACCAGATCTGAGAGCCTTTCCCAAAAACCATGG... |
Task1_train_2183 | The gene NPHS2 (NPHS2 stomatin family member, podocin) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Proteinuria | TTTGTTTGTCTTCATGAGGTTTACAATTTTATGAGGCCAGAACACTGCCTTGCTTGAAACAATCAGAATGAATGACTGTATGTGGTTCTTAGAGCATGCCAAGCAATTCCCAATTGCTTGGTTTCCTAGCATTACTTGTTTCTTACCTGCTTTTATTGGAAAAAACAAATTCTCCCCAGAGATGAAGGGGAGTCTTATTTCTTCAAGACCTTGCTCAAATATAACTGCCTGGTTCTGCTTTTGTTTCCTCTCCCTAATTGGCTTCTTAGGGCTTACCATCTTAAGTGACCAGATCTGAGAGCCTTTCCCAAAAACCATGG... | TTTGTTTGTCTTCATGAGGTTTACAATTTTATGAGGCCAGAACACTGCCTTGCTTGAAACAATCAGAATGAATGACTGTATGTGGTTCTTAGAGCATGCCAAGCAATTCCCAATTGCTTGGTTTCCTAGCATTACTTGTTTCTTACCTGCTTTTATTGGAAAAAACAAATTCTCCCCAGAGATGAAGGGGAGTCTTATTTCTTCAAGACCTTGCTCAAATATAACTGCCTGGTTCTGCTTTTGTTTCCTCTCCCTAATTGGCTTCTTAGGGCTTACCATCTTAAGTGACCAGATCTGAGAGCCTTTCCCAAAAACCATGG... |
Task1_train_2184 | The gene NPHS2 (NPHS2 stomatin family member, podocin), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Nephrotic syndrome, type 2 | TGGAACTTATTTCTCATGGAACCTACTCTGGGAAATGCTGCTCTACCAACATATTAATTTTTATAATATTCTCTTTCAAGGACAATGACTAACAGTATCATTGCCAGTTTTAATTAGTTCATAAATATGTTTCAGTTACCAGTGGTAGCCATGGCAAGTAAAAATAAATAAATGCATATACAAAATTACATTTTATAAATGAAGAAAGGCCTCAAAAATTCCTTCATACAGTAGCGAGAGATATGCGTAGAAAACTAATTTATATCCTCAAACCTAACGTGAAGATTTACCCCCAAAATATTATTCTGTTAGAATAAGTT... | TGGAACTTATTTCTCATGGAACCTACTCTGGGAAATGCTGCTCTACCAACATATTAATTTTTATAATATTCTCTTTCAAGGACAATGACTAACAGTATCATTGCCAGTTTTAATTAGTTCATAAATATGTTTCAGTTACCAGTGGTAGCCATGGCAAGTAAAAATAAATAAATGCATATACAAAATTACATTTTATAAATGAAGAAAGGCCTCAAAAATTCCTTCATACAGTAGCGAGAGATATGCGTAGAAAACTAATTTATATCCTCAAACCTAACGTGAAGATTTACCCCCAAAATATTATTCTGTTAGAATAAGTT... |
Task1_train_2185 | Chromosome 1 houses a mutation in gene NPHS2 (NPHS2 stomatin family member, podocin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Nephrotic syndrome, type 2 | CTAACGTGAAGATTTACCCCCAAAATATTATTCTGTTAGAATAAGTTGCTTGAATATCCAACTTGTTTGGTTTAAGTGAATAGTGAAACATTAATTATTCAAGCAGGAAAACCTTTAAACATTGTCTGAGAGTCCCCAACATTTTGGTGAGGTGAAGCGCCTTTTCATTTCTCCCGTCTTAAGTAGCCTGCCTTTGGGAGTGTGGTGCTAGGTGAAAAAGAGGAGGGGATGTTACTCTCTGTTCCCCGTGAGCTTCAGAAACCTCCCACACAAGGGCTCAGCAAAGGTCACTTCATCCTTAGTGGGACTGCTCGCCCATT... | CTAACGTGAAGATTTACCCCCAAAATATTATTCTGTTAGAATAAGTTGCTTGAATATCCAACTTGTTTGGTTTAAGTGAATAGTGAAACATTAATTATTCAAGCAGGAAAACCTTTAAACATTGTCTGAGAGTCCCCAACATTTTGGTGAGGTGAAGCGCCTTTTCATTTCTCCCGTCTTAAGTAGCCTGCCTTTGGGAGTGTGGTGCTAGGTGAAAAAGAGGAGGGGATGTTACTCTCTGTTCCCCGTGAGCTTCAGAAACCTCCCACACAAGGGCTCAGCAAAGGTCACTTCATCCTTAGTGGGACTGCTCGCCCATT... |
Task1_train_2186 | Mutation context: Chromosome 1, Gene LHX4-AS1, ACBD6, LHX4 (LHX4 antisense RNA 1| acyl-CoA binding domain containing 6| LIM homeobox 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Short stature-pituitary and cerebellar defects-small sella turcica syndrome | CAGTGAATGTTAAAATAACAGCATATTAGTCCCCATCATTGCAAGAAGAAAATCCTGTGTGTGTAGCAGTGCCGAACCAGCGGGCCACCAACCAGGATGACGGGTCTATCCCAGTGGCGCTACCATCTGGCTGTGGTGAAAAGAATTTATAATTCCGTAGGCCAAGCTATTTTGAAATTAAGTGATTCTCGAGAAATTAAAACATTTTTGGTGATTGCATTATTTCACATTTTTTAATATAAAGATTGTACACAAGTGCACTATTTCCCATTTGCATAATTCAAAGTTGCATCAGACACTCCCGTGTAGACTATAAATAT... | CAGTGAATGTTAAAATAACAGCATATTAGTCCCCATCATTGCAAGAAGAAAATCCTGTGTGTGTAGCAGTGCCGAACCAGCGGGCCACCAACCAGGATGACGGGTCTATCCCAGTGGCGCTACCATCTGGCTGTGGTGAAAAGAATTTATAATTCCGTAGGCCAAGCTATTTTGAAATTAAGTGATTCTCGAGAAATTAAAACATTTTTGGTGATTGCATTATTTCACATTTTTTAATATAAAGATTGTACACAAGTGCACTATTTCCCATTTGCATAATTCAAAGTTGCATCAGACACTCCCGTGTAGACTATAAATAT... |
Task1_train_2187 | A mutation on Chromosome 1 affecting ACBD6, LHX4-AS1, LHX4 (acyl-CoA binding domain containing 6| LHX4 antisense RNA 1| LIM homeobox 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Short stature-pituitary and cerebellar defects-small sella turcica syndrome | ATTTTGGAGGTTCCCCTTTGTCTTTTGGAATGACTCTCTAAGTAGTGTAGTCTCTGTGGCAGGGGCTCCGGAATCCCTACCCTTCGGGTTCAGGGCTTCAGGGAGGGAGTTGGGCCACAGTAGTTCCGGGATGACAGTGGCCACGTGAGAGAAGAAAACAGCCCGAGGAGAAGGGAAGGCACGGGTGTGTCCCCCCTCACTGTGTACACACATGTCCTGGCTGCACAGCTGCTTCATTCCTCTAGTGCCTCCCAAGATCAGGGCAGGCCGTGTTGCCCTCTGGACTTCCAAGGGGGAAGTGAGTTACTGGCCCAAGTCAC... | ATTTTGGAGGTTCCCCTTTGTCTTTTGGAATGACTCTCTAAGTAGTGTAGTCTCTGTGGCAGGGGCTCCGGAATCCCTACCCTTCGGGTTCAGGGCTTCAGGGAGGGAGTTGGGCCACAGTAGTTCCGGGATGACAGTGGCCACGTGAGAGAAGAAAACAGCCCGAGGAGAAGGGAAGGCACGGGTGTGTCCCCCCTCACTGTGTACACACATGTCCTGGCTGCACAGCTGCTTCATTCCTCTAGTGCCTCCCAAGATCAGGGCAGGCCGTGTTGCCCTCTGGACTTCCAAGGGGGAAGTGAGTTACTGGCCCAAGTCAC... |
Task1_train_2188 | A variant has been detected on Chromosome 1 in ACBD6, LHX4, LHX4-AS1 (acyl-CoA binding domain containing 6| LIM homeobox 4| LHX4 antisense RNA 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Short stature-pituitary and cerebellar defects-small sella turcica syndrome | TTTCCCCACCACTCACTTCATTCTGTCCCCTGCACACAAGCTTTGCAGCATGCACTATATTCAAATTCATGCATCAGCAAAATTGTAAATTACTGCATGTTATGAATCCTCAGGTTGTTTGCAAAGAATCATAACTGTTCTCAGGTACTGAGTTCTCAAATGTGGAAGGTCTTCTGCGGAGGGGGAAAGGGAAGAGTACTCAACTGGCGATCAGAGACCTGGTTTCCAGTGCAGCTCTGTCAAATCGATTCACTTCTCTTGAGCCCCAGTATTCCCAAGAGGAATACCATATCTTTGCCCATCTCACTGCGTTGTGGGGA... | TTTCCCCACCACTCACTTCATTCTGTCCCCTGCACACAAGCTTTGCAGCATGCACTATATTCAAATTCATGCATCAGCAAAATTGTAAATTACTGCATGTTATGAATCCTCAGGTTGTTTGCAAAGAATCATAACTGTTCTCAGGTACTGAGTTCTCAAATGTGGAAGGTCTTCTGCGGAGGGGGAAAGGGAAGAGTACTCAACTGGCGATCAGAGACCTGGTTTCCAGTGCAGCTCTGTCAAATCGATTCACTTCTCTTGAGCCCCAGTATTCCCAAGAGGAATACCATATCTTTGCCCATCTCACTGCGTTGTGGGGA... |
Task1_train_2189 | Here is a variant affecting XPR1 (xenotropic and polytropic retrovirus receptor 1) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Basal ganglia calcification, idiopathic, 6 | GGTCATGTAAAGGATTAAGAATAGAGATGAATCTTGGAAACATCCTATAGAAGGAAATTCTCTAGGAGAAAGAGAGAGTGAATCATTAAGCAGTGCCAGACAGGACAAAAATACTAAAGATTGATTGAAGACAACAGCAAGACAGTATAGCAGTAGATAAAGCAAGGAATAGGAGAATTATGAGAAAGCATAAGTTGTAAATAATTCTTTGTTATTATTATATAATTTTTATCATTATTTATTGAGTGCTATGTCCCTTGGCATTTTTTTTTTTTTGAGACAGTGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCA... | GGTCATGTAAAGGATTAAGAATAGAGATGAATCTTGGAAACATCCTATAGAAGGAAATTCTCTAGGAGAAAGAGAGAGTGAATCATTAAGCAGTGCCAGACAGGACAAAAATACTAAAGATTGATTGAAGACAACAGCAAGACAGTATAGCAGTAGATAAAGCAAGGAATAGGAGAATTATGAGAAAGCATAAGTTGTAAATAATTCTTTGTTATTATTATATAATTTTTATCATTATTTATTGAGTGCTATGTCCCTTGGCATTTTTTTTTTTTTGAGACAGTGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCA... |
Task1_train_2190 | Here is a variant affecting XPR1 (xenotropic and polytropic retrovirus receptor 1) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Basal ganglia calcification, idiopathic, 6 | GATTAAGAATAGAGATGAATCTTGGAAACATCCTATAGAAGGAAATTCTCTAGGAGAAAGAGAGAGTGAATCATTAAGCAGTGCCAGACAGGACAAAAATACTAAAGATTGATTGAAGACAACAGCAAGACAGTATAGCAGTAGATAAAGCAAGGAATAGGAGAATTATGAGAAAGCATAAGTTGTAAATAATTCTTTGTTATTATTATATAATTTTTATCATTATTTATTGAGTGCTATGTCCCTTGGCATTTTTTTTTTTTTGAGACAGTGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTC... | GATTAAGAATAGAGATGAATCTTGGAAACATCCTATAGAAGGAAATTCTCTAGGAGAAAGAGAGAGTGAATCATTAAGCAGTGCCAGACAGGACAAAAATACTAAAGATTGATTGAAGACAACAGCAAGACAGTATAGCAGTAGATAAAGCAAGGAATAGGAGAATTATGAGAAAGCATAAGTTGTAAATAATTCTTTGTTATTATTATATAATTTTTATCATTATTTATTGAGTGCTATGTCCCTTGGCATTTTTTTTTTTTTGAGACAGTGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTC... |
Task1_train_2191 | Chromosome 1 houses a mutation in gene XPR1 (xenotropic and polytropic retrovirus receptor 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Basal ganglia calcification, idiopathic, 6 | TGAATCTTGGAAACATCCTATAGAAGGAAATTCTCTAGGAGAAAGAGAGAGTGAATCATTAAGCAGTGCCAGACAGGACAAAAATACTAAAGATTGATTGAAGACAACAGCAAGACAGTATAGCAGTAGATAAAGCAAGGAATAGGAGAATTATGAGAAAGCATAAGTTGTAAATAATTCTTTGTTATTATTATATAATTTTTATCATTATTTATTGAGTGCTATGTCCCTTGGCATTTTTTTTTTTTTGAGACAGTGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAGCCTCTGCT... | TGAATCTTGGAAACATCCTATAGAAGGAAATTCTCTAGGAGAAAGAGAGAGTGAATCATTAAGCAGTGCCAGACAGGACAAAAATACTAAAGATTGATTGAAGACAACAGCAAGACAGTATAGCAGTAGATAAAGCAAGGAATAGGAGAATTATGAGAAAGCATAAGTTGTAAATAATTCTTTGTTATTATTATATAATTTTTATCATTATTTATTGAGTGCTATGTCCCTTGGCATTTTTTTTTTTTTGAGACAGTGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAGCCTCTGCT... |
Task1_train_2192 | This variant lies on Chromosome 1 and affects the gene XPR1 (xenotropic and polytropic retrovirus receptor 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Basal ganglia calcification, idiopathic, 6 | TTTAGAGAGACCTTATGCACTATTTTTTTTCTATTTTATTCTTGTGATTATTACTTATAATGAGTGGTTAGGATCATCATAGGATGATATACCATATTAAAACTAAAGATTATGTAACAAAAGTATTACCTGGAATATTAGAATTTTAAAATAAAAAGTAGTTAAAGTCCCATATCTGCAGTAATCTTAAATTGTTAATGCATGTGTTTATCATTTTCTTCTATAATTCTACTTTGTTCTTTAGTGATTTAATATTCTATCATTTGAAGACAAACCTAGTAAGAAAACAATTTAGTAGAAAAATAATTACATATATTTAT... | TTTAGAGAGACCTTATGCACTATTTTTTTTCTATTTTATTCTTGTGATTATTACTTATAATGAGTGGTTAGGATCATCATAGGATGATATACCATATTAAAACTAAAGATTATGTAACAAAAGTATTACCTGGAATATTAGAATTTTAAAATAAAAAGTAGTTAAAGTCCCATATCTGCAGTAATCTTAAATTGTTAATGCATGTGTTTATCATTTTCTTCTATAATTCTACTTTGTTCTTTAGTGATTTAATATTCTATCATTTGAAGACAAACCTAGTAAGAAAACAATTTAGTAGAAAAATAATTACATATATTTAT... |
Task1_train_2193 | This alteration in MR1 (major histocompatibility complex, class I-related) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; MR1-related disorder | TTCTTGAAGTCAGTGACACCAAGAACCCACCAATTGCGGACACACCACCACCCATAATGCCACCTTGAAACCACTTTGTCTCCGTCAGGCCCTAAGCTTCTTGGACAAGCGGAGAGAAGTTCAATGTGGGAACAGCAGGGAGGGCCAAACAGTTTTGTTTCATTTTGGTTTACTTTTAACCCTTATTACAATCCTTATAACTAGTAAGTAGAAAAAGAATAAGAAAATGGTTAACAGCAGTGGTTTGACATAATAGGAAAAGCACTGTGCTTTAAAAAAAAAAAAAATTTCGGCCGGCCATGGTGGCTCACACCTGTAAT... | TTCTTGAAGTCAGTGACACCAAGAACCCACCAATTGCGGACACACCACCACCCATAATGCCACCTTGAAACCACTTTGTCTCCGTCAGGCCCTAAGCTTCTTGGACAAGCGGAGAGAAGTTCAATGTGGGAACAGCAGGGAGGGCCAAACAGTTTTGTTTCATTTTGGTTTACTTTTAACCCTTATTACAATCCTTATAACTAGTAAGTAGAAAAAGAATAAGAAAATGGTTAACAGCAGTGGTTTGACATAATAGGAAAAGCACTGTGCTTTAAAAAAAAAAAAAATTTCGGCCGGCCATGGTGGCTCACACCTGTAAT... |
Task1_train_2194 | Consider this mutation in CACNA1E (calcium voltage-gated channel subunit alpha1 E) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | TAAAGTCCAGTTCCATCTAACTCCAGTGCCCTATCCAATCACAAGATCTAGAACAGGAAATTTAGGTTTTAATCCCAGCAACTCTGTGTATCAGCTGTGTGGCCTTGGGAAAGTTACTTAATGACTCCAAGCTTCTATTTTTTACAACTGAAAGGAGAATAATAATATTTATCTCCTTTGTTCGTGGTGAATACTAAATGAGATAATTTATTTGCATGTGATTTATAATTACAAACTTCTATACAACTGTTAGATGCTTTTGGGGAGTTGGGTTGGCCGTGAATTGGGATTAGTAGAACAGAAAGGCAGAACCATGGGAC... | TAAAGTCCAGTTCCATCTAACTCCAGTGCCCTATCCAATCACAAGATCTAGAACAGGAAATTTAGGTTTTAATCCCAGCAACTCTGTGTATCAGCTGTGTGGCCTTGGGAAAGTTACTTAATGACTCCAAGCTTCTATTTTTTACAACTGAAAGGAGAATAATAATATTTATCTCCTTTGTTCGTGGTGAATACTAAATGAGATAATTTATTTGCATGTGATTTATAATTACAAACTTCTATACAACTGTTAGATGCTTTTGGGGAGTTGGGTTGGCCGTGAATTGGGATTAGTAGAACAGAAAGGCAGAACCATGGGAC... |
Task1_train_2195 | Gene CACNA1E (calcium voltage-gated channel subunit alpha1 E), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | AGTCCAGTTCCATCTAACTCCAGTGCCCTATCCAATCACAAGATCTAGAACAGGAAATTTAGGTTTTAATCCCAGCAACTCTGTGTATCAGCTGTGTGGCCTTGGGAAAGTTACTTAATGACTCCAAGCTTCTATTTTTTACAACTGAAAGGAGAATAATAATATTTATCTCCTTTGTTCGTGGTGAATACTAAATGAGATAATTTATTTGCATGTGATTTATAATTACAAACTTCTATACAACTGTTAGATGCTTTTGGGGAGTTGGGTTGGCCGTGAATTGGGATTAGTAGAACAGAAAGGCAGAACCATGGGACGCA... | AGTCCAGTTCCATCTAACTCCAGTGCCCTATCCAATCACAAGATCTAGAACAGGAAATTTAGGTTTTAATCCCAGCAACTCTGTGTATCAGCTGTGTGGCCTTGGGAAAGTTACTTAATGACTCCAAGCTTCTATTTTTTACAACTGAAAGGAGAATAATAATATTTATCTCCTTTGTTCGTGGTGAATACTAAATGAGATAATTTATTTGCATGTGATTTATAATTACAAACTTCTATACAACTGTTAGATGCTTTTGGGGAGTTGGGTTGGCCGTGAATTGGGATTAGTAGAACAGAAAGGCAGAACCATGGGACGCA... |
Task1_train_2196 | Mutation context: Chromosome 1, Gene CACNA1E (calcium voltage-gated channel subunit alpha1 E). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 69 | CCAGTTCCATCTAACTCCAGTGCCCTATCCAATCACAAGATCTAGAACAGGAAATTTAGGTTTTAATCCCAGCAACTCTGTGTATCAGCTGTGTGGCCTTGGGAAAGTTACTTAATGACTCCAAGCTTCTATTTTTTACAACTGAAAGGAGAATAATAATATTTATCTCCTTTGTTCGTGGTGAATACTAAATGAGATAATTTATTTGCATGTGATTTATAATTACAAACTTCTATACAACTGTTAGATGCTTTTGGGGAGTTGGGTTGGCCGTGAATTGGGATTAGTAGAACAGAAAGGCAGAACCATGGGACGCAGGT... | CCAGTTCCATCTAACTCCAGTGCCCTATCCAATCACAAGATCTAGAACAGGAAATTTAGGTTTTAATCCCAGCAACTCTGTGTATCAGCTGTGTGGCCTTGGGAAAGTTACTTAATGACTCCAAGCTTCTATTTTTTACAACTGAAAGGAGAATAATAATATTTATCTCCTTTGTTCGTGGTGAATACTAAATGAGATAATTTATTTGCATGTGATTTATAATTACAAACTTCTATACAACTGTTAGATGCTTTTGGGGAGTTGGGTTGGCCGTGAATTGGGATTAGTAGAACAGAAAGGCAGAACCATGGGACGCAGGT... |
Task1_train_2197 | Gene CACNA1E (calcium voltage-gated channel subunit alpha1 E) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 69 | CACAACAGAGCCAGACTCCCTGTGGGAGGGGCTTGGAGTGCGCCTCCTAAACGGGCTTCCCAGGTGACTCTTAGAATATAGTGTAGTTTGAGAACCCCTGTCAATATTAAAAAGAACCCACTTGAGTGCGAGGCTCAGCTCTAGGACTTAGAAGCTATATGACCCAGGGCAAATTACTTATTCTTTGACTTTCTTTCACATGGGAAATGAGGACACATTGTAACTCATACATCTGTGGTGTGGAGAAAATGAACTGACGTGAGTGGTCCCTGTTAGAAAACTCAACAGTTCCTCTGGAATGCCTGGGCCTGCTCTCCCAA... | CACAACAGAGCCAGACTCCCTGTGGGAGGGGCTTGGAGTGCGCCTCCTAAACGGGCTTCCCAGGTGACTCTTAGAATATAGTGTAGTTTGAGAACCCCTGTCAATATTAAAAAGAACCCACTTGAGTGCGAGGCTCAGCTCTAGGACTTAGAAGCTATATGACCCAGGGCAAATTACTTATTCTTTGACTTTCTTTCACATGGGAAATGAGGACACATTGTAACTCATACATCTGTGGTGTGGAGAAAATGAACTGACGTGAGTGGTCCCTGTTAGAAAACTCAACAGTTCCTCTGGAATGCCTGGGCCTGCTCTCCCAA... |
Task1_train_2198 | This variant affects the gene CACNA1E (calcium voltage-gated channel subunit alpha1 E) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | CAGAACATGTGTTCCCATCCCAGGTGGTAGGTCCTTGCAGTCATAACCAGCTTAGAAGCCAGCCCTTAATCTCATGAGCACCACCTCACCTCTTAGCAGGAAATTCTCTCCTGGGACAACTTCTTGGTGGGGCTGGGTAGTGGTGGTATGGCCCAGCTCGGCTCTAGGCAAGTATGCAGACCATCACAGGGTTCACACAGCAGGGCTGTTTGCTCTGTCCACAGGCCGTCTTCGACTGCGTAGTGACCTCCTTGAAGAATGTCTTCAACATACTCATTGTGTACAAGCTCTTCATGTTCATCTTTGCTGTCATCGCAGTT... | CAGAACATGTGTTCCCATCCCAGGTGGTAGGTCCTTGCAGTCATAACCAGCTTAGAAGCCAGCCCTTAATCTCATGAGCACCACCTCACCTCTTAGCAGGAAATTCTCTCCTGGGACAACTTCTTGGTGGGGCTGGGTAGTGGTGGTATGGCCCAGCTCGGCTCTAGGCAAGTATGCAGACCATCACAGGGTTCACACAGCAGGGCTGTTTGCTCTGTCCACAGGCCGTCTTCGACTGCGTAGTGACCTCCTTGAAGAATGTCTTCAACATACTCATTGTGTACAAGCTCTTCATGTTCATCTTTGCTGTCATCGCAGTT... |
Task1_train_2199 | This sequence variant lies in CACNA1E (calcium voltage-gated channel subunit alpha1 E) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | GTTCCCATCCCAGGTGGTAGGTCCTTGCAGTCATAACCAGCTTAGAAGCCAGCCCTTAATCTCATGAGCACCACCTCACCTCTTAGCAGGAAATTCTCTCCTGGGACAACTTCTTGGTGGGGCTGGGTAGTGGTGGTATGGCCCAGCTCGGCTCTAGGCAAGTATGCAGACCATCACAGGGTTCACACAGCAGGGCTGTTTGCTCTGTCCACAGGCCGTCTTCGACTGCGTAGTGACCTCCTTGAAGAATGTCTTCAACATACTCATTGTGTACAAGCTCTTCATGTTCATCTTTGCTGTCATCGCAGTTCAGCTCTTCA... | GTTCCCATCCCAGGTGGTAGGTCCTTGCAGTCATAACCAGCTTAGAAGCCAGCCCTTAATCTCATGAGCACCACCTCACCTCTTAGCAGGAAATTCTCTCCTGGGACAACTTCTTGGTGGGGCTGGGTAGTGGTGGTATGGCCCAGCTCGGCTCTAGGCAAGTATGCAGACCATCACAGGGTTCACACAGCAGGGCTGTTTGCTCTGTCCACAGGCCGTCTTCGACTGCGTAGTGACCTCCTTGAAGAATGTCTTCAACATACTCATTGTGTACAAGCTCTTCATGTTCATCTTTGCTGTCATCGCAGTTCAGCTCTTCA... |
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