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_20100 | This mutation occurs in PSEN1 (presenilin 1) on Chromosome 14. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Frontotemporal dementia | GCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGG... | GCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGG... |
Task1_train_20101 | A variant found in Chromosome 14 affects PSEN1 (presenilin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Alzheimer disease 3 | GCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGG... | GCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGG... |
Task1_train_20102 | This alteration in PSEN1 (presenilin 1) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Acne inversa, familial, 3 | GCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGG... | GCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGG... |
Task1_train_20103 | This variant lies on Chromosome 14 and affects the gene PSEN1 (presenilin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pick disease | TTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGT... | TTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGT... |
Task1_train_20104 | This sequence change occurs on Chromosome 14, altering PSEN1 (presenilin 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Acne inversa, familial, 3 | TTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGT... | TTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGT... |
Task1_train_20105 | This genomic variant is located on Chromosome 14, within the PSEN1 (presenilin 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Frontotemporal dementia | TTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGT... | TTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGT... |
Task1_train_20106 | Given this variant in gene PSEN1 (presenilin 1) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Alzheimer disease 3 | TTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGT... | TTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGT... |
Task1_train_20107 | This alteration occurs within gene PSEN1 (presenilin 1) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; Pick disease | TCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGTCTGTAATCCCAGCTATTCGAGAGGCTGCGGCAGGATAAT... | TCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGTCTGTAATCCCAGCTATTCGAGAGGCTGCGGCAGGATAAT... |
Task1_train_20108 | Here’s a variant in PSEN1 (presenilin 1) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Frontotemporal dementia | TCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGTCTGTAATCCCAGCTATTCGAGAGGCTGCGGCAGGATAAT... | TCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGTCTGTAATCCCAGCTATTCGAGAGGCTGCGGCAGGATAAT... |
Task1_train_20109 | Here is a mutation in PSEN1 (presenilin 1) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Alzheimer disease 3 | TCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGTCTGTAATCCCAGCTATTCGAGAGGCTGCGGCAGGATAAT... | TCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGTCTGTAATCCCAGCTATTCGAGAGGCTGCGGCAGGATAAT... |
Task1_train_20110 | This is a variant in PSEN1 (presenilin 1), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Acne inversa, familial, 3 | TCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGTCTGTAATCCCAGCTATTCGAGAGGCTGCGGCAGGATAAT... | TCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGTCTGTAATCCCAGCTATTCGAGAGGCTGCGGCAGGATAAT... |
Task1_train_20111 | Here’s a variant in PSEN1 (presenilin 1) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Frontotemporal dementia | AAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGTCTGTAATCCCAGCTATTCGAGAGGCTGCGGCAGGATAATTGCTTGAAATCGGGAGGT... | AAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGTCTGTAATCCCAGCTATTCGAGAGGCTGCGGCAGGATAATTGCTTGAAATCGGGAGGT... |
Task1_train_20112 | This genomic variant is located on Chromosome 14, within the PSEN1 (presenilin 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Acne inversa, familial, 3 | AAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGTCTGTAATCCCAGCTATTCGAGAGGCTGCGGCAGGATAATTGCTTGAAATCGGGAGGT... | AAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGTCTGTAATCCCAGCTATTCGAGAGGCTGCGGCAGGATAATTGCTTGAAATCGGGAGGT... |
Task1_train_20113 | This sequence change occurs on Chromosome 14, altering PSEN1 (presenilin 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Alzheimer disease 3 | AAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGTCTGTAATCCCAGCTATTCGAGAGGCTGCGGCAGGATAATTGCTTGAAATCGGGAGGT... | AAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGTCTGTAATCCCAGCTATTCGAGAGGCTGCGGCAGGATAATTGCTTGAAATCGGGAGGT... |
Task1_train_20114 | A variant has been detected on Chromosome 14 in PSEN1 (presenilin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Pick disease | AAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGTCTGTAATCCCAGCTATTCGAGAGGCTGCGGCAGGATAATTGCTTGAAATCGGGAGGT... | AAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGTCTGTAATCCCAGCTATTCGAGAGGCTGCGGCAGGATAATTGCTTGAAATCGGGAGGT... |
Task1_train_20115 | An alteration has been detected in PSEN1 (presenilin 1) on Chromosome 14. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Alzheimer disease 3 | AAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGTCTGTAATCCCAGCTATTCGAGAGGCTGCGGCAGGATAATTGCTTGAAATCGGGAGGT... | AAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGTCTGTAATCCCAGCTATTCGAGAGGCTGCGGCAGGATAATTGCTTGAAATCGGGAGGT... |
Task1_train_20116 | Consider this mutation in PSEN1 (presenilin 1) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Alzheimer disease 3 | TGGGAGATTTCATTTTCTACAGTGTTCTGGTTGGTAAAGCCTCAGCAACAGCCAGTGGAGACTGGAACACAACCATAGCCTGTTTCGTAGCCATATTAATTGTAAGTATACACTAATAAGAATGTGTCAGAGCTCTTAATGTCAAAACTTTGATTACACAGTCCCTTTAAGGCAGTTCTGTTTTAACCCCAGGTGGGTTAAATATTCCAGCTATCTGAGGAGCTTTTTGATAATTGGACCTCACCTTAGTAGTTCTCTACCCTGGCCACACATTAGAATCACTTGGGAGCTTTTAAAACTGTAAGCTCTGCCCTGAGATA... | TGGGAGATTTCATTTTCTACAGTGTTCTGGTTGGTAAAGCCTCAGCAACAGCCAGTGGAGACTGGAACACAACCATAGCCTGTTTCGTAGCCATATTAATTGTAAGTATACACTAATAAGAATGTGTCAGAGCTCTTAATGTCAAAACTTTGATTACACAGTCCCTTTAAGGCAGTTCTGTTTTAACCCCAGGTGGGTTAAATATTCCAGCTATCTGAGGAGCTTTTTGATAATTGGACCTCACCTTAGTAGTTCTCTACCCTGGCCACACATTAGAATCACTTGGGAGCTTTTAAAACTGTAAGCTCTGCCCTGAGATA... |
Task1_train_20117 | Given this context: Chromosome 14, gene DNAL1 (dynein axonemal light chain 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Primary ciliary dyskinesia 16 | GGGTAAGCTGAGAGTGGCCCTTTGCTAACCTTCTACCGCCTGTTTATAGAAAATAGTCCGAGAGGGAAAAGATGCAAAACGAGAACGTTTATTTCTAAGCACAGAGAGAAAGTGGAAACATTTATGGCTAAGCTCAGAGAGAAACAGCAATAGGAGTTTCTAAATTTTAAATGCTTAACATTTATATTTAAATATTTACTTAGGATGGACCGGGCGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCT... | GGGTAAGCTGAGAGTGGCCCTTTGCTAACCTTCTACCGCCTGTTTATAGAAAATAGTCCGAGAGGGAAAAGATGCAAAACGAGAACGTTTATTTCTAAGCACAGAGAGAAAGTGGAAACATTTATGGCTAAGCTCAGAGAGAAACAGCAATAGGAGTTTCTAAATTTTAAATGCTTAACATTTATATTTAAATATTTACTTAGGATGGACCGGGCGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCT... |
Task1_train_20118 | The gene COQ6, ENTPD5 (coenzyme Q6, monooxygenase| ectonucleoside triphosphate diphosphohydrolase 5 (inactive)) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | AGCTGTAATTGCAGTTGTCTCTGAGTAGTTTAAGGGTGATTTTTCTCCACTTGAACCTTTCTTTGTTGTCCAGACTTCTACAGCGAGCTTATTATTATTATTATTATTTTTTTTTTTTTGGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAGTCTCGGCTCACTGCAAGCTCGGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGACTATAGGCGCCTGCCACCGTGCCCAGCTAATTATTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGGTCTCAATCTCCTG... | AGCTGTAATTGCAGTTGTCTCTGAGTAGTTTAAGGGTGATTTTTCTCCACTTGAACCTTTCTTTGTTGTCCAGACTTCTACAGCGAGCTTATTATTATTATTATTATTTTTTTTTTTTTGGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAGTCTCGGCTCACTGCAAGCTCGGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGACTATAGGCGCCTGCCACCGTGCCCAGCTAATTATTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGGTCTCAATCTCCTG... |
Task1_train_20119 | This genomic variant is located on Chromosome 14, within the ENTPD5, COQ6 (ectonucleoside triphosphate diphosphohydrolase 5 (inactive)| coenzyme Q6, monooxygenase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Familial steroid-resistant nephrotic syndrome with sensorineural deafness | GGCACAGTCTCGGCTCACTGCAAGCTCGGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGACTATAGGCGCCTGCCACCGTGCCCAGCTAATTATTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGGTCTCAATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGTGCTGGCCCTCTATTATTTAAATCGCTTTGTTGACAGTATGACTGACTGACATACAAAAAGCTGTAAATGATGTATACAGGCTGATGTTTTTGGAGATAG... | GGCACAGTCTCGGCTCACTGCAAGCTCGGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGACTATAGGCGCCTGCCACCGTGCCCAGCTAATTATTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGGTCTCAATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGTGCTGGCCCTCTATTATTTAAATCGCTTTGTTGACAGTATGACTGACTGACATACAAAAAGCTGTAAATGATGTATACAGGCTGATGTTTTTGGAGATAG... |
Task1_train_20120 | This variant impacts the gene COQ6, ENTPD5 (coenzyme Q6, monooxygenase| ectonucleoside triphosphate diphosphohydrolase 5 (inactive)) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial steroid-resistant nephrotic syndrome with sensorineural deafness | CTTTTTCTGGTTTCAAGGGAATCTGCCCAGGCTGTTTGTAAGTTCCCTTTTTGTCTTTTTATGCTTGAGAGTTTCCAAGTGCAGCAGAGTCTTAGCCGTTGGTATTGGTGTTCTTTTGACACAGCTCTCAGACACCTTGAGTTCCTTGGTTTGGTCCACGTCCCATGAACATGCAGCAGAGCTAGTTAGCATGGATGAGGAAAAATTTGTGGATGCCGTTAACTCTGCCTTTGTGAGTATCAATTTACCCAGCTGATGATGTGCTGCAGGGGGAGATACAGAAAGGTGTTGTTTTTTTTTTTTTGAAACGGATCCTTGCC... | CTTTTTCTGGTTTCAAGGGAATCTGCCCAGGCTGTTTGTAAGTTCCCTTTTTGTCTTTTTATGCTTGAGAGTTTCCAAGTGCAGCAGAGTCTTAGCCGTTGGTATTGGTGTTCTTTTGACACAGCTCTCAGACACCTTGAGTTCCTTGGTTTGGTCCACGTCCCATGAACATGCAGCAGAGCTAGTTAGCATGGATGAGGAAAAATTTGTGGATGCCGTTAACTCTGCCTTTGTGAGTATCAATTTACCCAGCTGATGATGTGCTGCAGGGGGAGATACAGAAAGGTGTTGTTTTTTTTTTTTTGAAACGGATCCTTGCC... |
Task1_train_20121 | The variant affects gene ALDH6A1, BBOF1 (aldehyde dehydrogenase 6 family member A1| basal body orientation factor 1), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Methylmalonate semialdehyde dehydrogenase deficiency | TTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTCCAGTGGTGCAATCTCGGCTCACTGCAACTTCCGCCTCCCAGATTCAAAGGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCACCTGCCACCACACCTGGCTAATTGTTTTATTTTTAGTAGAGGGGGTTTTGCCATGTTGGCCAGATTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCACCTGGCCAATAGTGATAATTCAGTCCTTACAATGTTATGAAAT... | TTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTCCAGTGGTGCAATCTCGGCTCACTGCAACTTCCGCCTCCCAGATTCAAAGGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCACCTGCCACCACACCTGGCTAATTGTTTTATTTTTAGTAGAGGGGGTTTTGCCATGTTGGCCAGATTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCACCTGGCCAATAGTGATAATTCAGTCCTTACAATGTTATGAAAT... |
Task1_train_20122 | A variant affecting Chromosome 14, within the gene BBOF1, ALDH6A1 (basal body orientation factor 1| aldehyde dehydrogenase 6 family member A1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Methylmalonate semialdehyde dehydrogenase deficiency | TCCCAGATTCAAAGGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCACCTGCCACCACACCTGGCTAATTGTTTTATTTTTAGTAGAGGGGGTTTTGCCATGTTGGCCAGATTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCACCTGGCCAATAGTGATAATTCAGTCCTTACAATGTTATGAAATACATAGGTACTATTGTTATTCATTTTATACGTGAATAAATTTAAGGCATAAAGAAGGTATCCTGGTTGGCTGTGG... | TCCCAGATTCAAAGGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCACCTGCCACCACACCTGGCTAATTGTTTTATTTTTAGTAGAGGGGGTTTTGCCATGTTGGCCAGATTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCACCTGGCCAATAGTGATAATTCAGTCCTTACAATGTTATGAAATACATAGGTACTATTGTTATTCATTTTATACGTGAATAAATTTAAGGCATAAAGAAGGTATCCTGGTTGGCTGTGG... |
Task1_train_20123 | Here is a variant affecting BBOF1, ALDH6A1 (basal body orientation factor 1| aldehyde dehydrogenase 6 family member A1) on Chromosome 14. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Methylmalonate semialdehyde dehydrogenase deficiency | CTGATCTCCTGTAAAACAACACAGAAGAATTTAAGGTCCTCATTAACATAAATTATGACTGCTGCCAGGGCTCATGCCTGTAATCCCAAAGCTTTAGGAGGCCAAGGCAGGAGGACTGCTTGAGCCCAGGAGTTCCAGACCAGCCTGGGCAACAAAGTGAGACTTCATATTTACAAAAAATAAAAAAATTAGCCAGGTGGTGGCCCGCACCTGTGGTCCAAGCTGCTCAGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAACAGTTTGAGGCTGCCATGAGCTAGGATGGTGCCACTGCACTCCAGCTTGGGTAACAGA... | CTGATCTCCTGTAAAACAACACAGAAGAATTTAAGGTCCTCATTAACATAAATTATGACTGCTGCCAGGGCTCATGCCTGTAATCCCAAAGCTTTAGGAGGCCAAGGCAGGAGGACTGCTTGAGCCCAGGAGTTCCAGACCAGCCTGGGCAACAAAGTGAGACTTCATATTTACAAAAAATAAAAAAATTAGCCAGGTGGTGGCCCGCACCTGTGGTCCAAGCTGCTCAGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAACAGTTTGAGGCTGCCATGAGCTAGGATGGTGCCACTGCACTCCAGCTTGGGTAACAGA... |
Task1_train_20124 | This sequence change occurs on Chromosome 14, altering ALDH6A1, BBOF1 (aldehyde dehydrogenase 6 family member A1| basal body orientation factor 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Methylmalonate semialdehyde dehydrogenase deficiency | AAATGCTGGGATTACAGGTGTGAGCCACTGCATCAGGCCTGTGTTTTTCTGTACTGGATTCTCATTGTGAAGTTCTCTCCTTGTTTCTTTTAAATTCTATTTAGCCGGCTGGACACGGTGGCGCATGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCTTCCTAGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAAATGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGTCTGAGGCAGGAGAATTGCTTGAACCCGGGAG... | AAATGCTGGGATTACAGGTGTGAGCCACTGCATCAGGCCTGTGTTTTTCTGTACTGGATTCTCATTGTGAAGTTCTCTCCTTGTTTCTTTTAAATTCTATTTAGCCGGCTGGACACGGTGGCGCATGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCTTCCTAGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAAATGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGTCTGAGGCAGGAGAATTGCTTGAACCCGGGAG... |
Task1_train_20125 | This mutation is located in gene BBOF1, ALDH6A1 (basal body orientation factor 1| aldehyde dehydrogenase 6 family member A1) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Methylmalonate semialdehyde dehydrogenase deficiency | TCTGGGCGACAGAGGGAGACTCCATCTCAAAAAAAAGAATAACAATATTTCCTCAATGGTGACTATGTACTGGGACACTCAGACACTATTGTGTTCTCATGTAAGAGGTAATATAGTGTAGTTTTTAAAAGCAAAAATCAGAGTCAGCCTTCCTGGATGGGTATACACATCCTGGCTTTTTCTAGCACTGTGACTTTGGGCTAATTAATTTCACTATGTCTCATTTTTCTCTTCTGCAAAATGGAAAAATAATACCTACCTCAAAGGGTGATTATAAAGATTAATAGATAAAAAGCACTAGGAACGGTGCCTGAAACACA... | TCTGGGCGACAGAGGGAGACTCCATCTCAAAAAAAAGAATAACAATATTTCCTCAATGGTGACTATGTACTGGGACACTCAGACACTATTGTGTTCTCATGTAAGAGGTAATATAGTGTAGTTTTTAAAAGCAAAAATCAGAGTCAGCCTTCCTGGATGGGTATACACATCCTGGCTTTTTCTAGCACTGTGACTTTGGGCTAATTAATTTCACTATGTCTCATTTTTCTCTTCTGCAAAATGGAAAAATAATACCTACCTCAAAGGGTGATTATAAAGATTAATAGATAAAAAGCACTAGGAACGGTGCCTGAAACACA... |
Task1_train_20126 | A variant was discovered in gene VSX2 (visual system homeobox 2), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Isolated microphthalmia 2 | CGTGGGATGCGAGGCTGGCGGGCCGGAGCGCCCCTGCCGGGGATTGGCCGGCCGCGCTCCGCCGCAGACTCCGCGCCGCCGGGCGCTCACTTCGCCACCTGACGGCAACGGCGGGAACCGCAGGAGCGCGCGGACCACCCCCCACCCACTTCCCCCGAGCCCCGCCGGCCCCAGCTCCCGCTCCCCAGGAAGCGAAGGGTTAAGCTGTCAGCGGCGCGATGTTAAACAGGTGTCAAAGGCGCCCCATATATCTGCAGATTGAAATCAAATTCTTCGCCGTATAAAAAGATAAATTACCCAGGCGCTGCCGAGCGTCCCAC... | CGTGGGATGCGAGGCTGGCGGGCCGGAGCGCCCCTGCCGGGGATTGGCCGGCCGCGCTCCGCCGCAGACTCCGCGCCGCCGGGCGCTCACTTCGCCACCTGACGGCAACGGCGGGAACCGCAGGAGCGCGCGGACCACCCCCCACCCACTTCCCCCGAGCCCCGCCGGCCCCAGCTCCCGCTCCCCAGGAAGCGAAGGGTTAAGCTGTCAGCGGCGCGATGTTAAACAGGTGTCAAAGGCGCCCCATATATCTGCAGATTGAAATCAAATTCTTCGCCGTATAAAAAGATAAATTACCCAGGCGCTGCCGAGCGTCCCAC... |
Task1_train_20127 | This mutation is located in gene VSX2 (visual system homeobox 2) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Isolated microphthalmia 2 | CTCCGCGCCGCCGGGCGCTCACTTCGCCACCTGACGGCAACGGCGGGAACCGCAGGAGCGCGCGGACCACCCCCCACCCACTTCCCCCGAGCCCCGCCGGCCCCAGCTCCCGCTCCCCAGGAAGCGAAGGGTTAAGCTGTCAGCGGCGCGATGTTAAACAGGTGTCAAAGGCGCCCCATATATCTGCAGATTGAAATCAAATTCTTCGCCGTATAAAAAGATAAATTACCCAGGCGCTGCCGAGCGTCCCACTCATCACGCCAGCGCCAGACGGCAAGCAATTTTTTTTTAATGTGCTAACGACCTAATCAAGCAATCAA... | CTCCGCGCCGCCGGGCGCTCACTTCGCCACCTGACGGCAACGGCGGGAACCGCAGGAGCGCGCGGACCACCCCCCACCCACTTCCCCCGAGCCCCGCCGGCCCCAGCTCCCGCTCCCCAGGAAGCGAAGGGTTAAGCTGTCAGCGGCGCGATGTTAAACAGGTGTCAAAGGCGCCCCATATATCTGCAGATTGAAATCAAATTCTTCGCCGTATAAAAAGATAAATTACCCAGGCGCTGCCGAGCGTCCCACTCATCACGCCAGCGCCAGACGGCAAGCAATTTTTTTTTAATGTGCTAACGACCTAATCAAGCAATCAA... |
Task1_train_20128 | Chromosome 14 houses a mutation in gene ABCD4 (ATP binding cassette subfamily D member 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Methylmalonic acidemia with homocystinuria, type cblJ | TCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTAAGCCTGGGAGTTCCAGGCTGCACTGAGCCATGACTGTGCCCCTGTACCCCAGCCTGGGTGACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAAGAAAACAGAAGAAAAGCAAGCTTATGAGCTGGCAGTACCGCATATTCAGTGTTAACTCTGACGATGCCAGGCACTGTTTACACGGGCAGGGCCTGCTGTCCTCTCCAGCAGGGAATGCGGAGAAGCCCAGCCATTCACAGGTGTGCCTGGGTGCCTGTGAACACATGCTGCT... | TCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTAAGCCTGGGAGTTCCAGGCTGCACTGAGCCATGACTGTGCCCCTGTACCCCAGCCTGGGTGACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAAGAAAACAGAAGAAAAGCAAGCTTATGAGCTGGCAGTACCGCATATTCAGTGTTAACTCTGACGATGCCAGGCACTGTTTACACGGGCAGGGCCTGCTGTCCTCTCCAGCAGGGAATGCGGAGAAGCCCAGCCATTCACAGGTGTGCCTGGGTGCCTGTGAACACATGCTGCT... |
Task1_train_20129 | This variant impacts the gene ABCD4 (ATP binding cassette subfamily D member 4) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Methylmalonic acidemia with homocystinuria, type cblJ | ACCAGCTTCATCACAATGGGGCCCATCAAAGTTTTGTTCACCACGGTCCCCAGGATGAAATACCCGAAGATGCTCACAGGCCCGAGCCAGCCTGTGCTGAAATAGAGAGAGAGGGAGAGAAGGGAGAGGGTGTGGGGTGCCACCTATCCCCACATGCCTCAGCCCTGACTCCTGTTCCCTCTCAGGTAGCCCCTGTCCAATCTGAGTGGCCCAATGGGCCCTCTGCTCCTATGTGGGGGCATCTGGTATGAGCTCTCAGAGCCAGGATATCTGTGACACTGCAACACAGGGCCAAAGGAAGGGCAGGGGCCTGAGCACGT... | ACCAGCTTCATCACAATGGGGCCCATCAAAGTTTTGTTCACCACGGTCCCCAGGATGAAATACCCGAAGATGCTCACAGGCCCGAGCCAGCCTGTGCTGAAATAGAGAGAGAGGGAGAGAAGGGAGAGGGTGTGGGGTGCCACCTATCCCCACATGCCTCAGCCCTGACTCCTGTTCCCTCTCAGGTAGCCCCTGTCCAATCTGAGTGGCCCAATGGGCCCTCTGCTCCTATGTGGGGGCATCTGGTATGAGCTCTCAGAGCCAGGATATCTGTGACACTGCAACACAGGGCCAAAGGAAGGGCAGGGGCCTGAGCACGT... |
Task1_train_20130 | Located on Chromosome 14, this mutation impacts ABCD4 (ATP binding cassette subfamily D member 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Cobalamin C disease | ACCAGCTTCATCACAATGGGGCCCATCAAAGTTTTGTTCACCACGGTCCCCAGGATGAAATACCCGAAGATGCTCACAGGCCCGAGCCAGCCTGTGCTGAAATAGAGAGAGAGGGAGAGAAGGGAGAGGGTGTGGGGTGCCACCTATCCCCACATGCCTCAGCCCTGACTCCTGTTCCCTCTCAGGTAGCCCCTGTCCAATCTGAGTGGCCCAATGGGCCCTCTGCTCCTATGTGGGGGCATCTGGTATGAGCTCTCAGAGCCAGGATATCTGTGACACTGCAACACAGGGCCAAAGGAAGGGCAGGGGCCTGAGCACGT... | ACCAGCTTCATCACAATGGGGCCCATCAAAGTTTTGTTCACCACGGTCCCCAGGATGAAATACCCGAAGATGCTCACAGGCCCGAGCCAGCCTGTGCTGAAATAGAGAGAGAGGGAGAGAAGGGAGAGGGTGTGGGGTGCCACCTATCCCCACATGCCTCAGCCCTGACTCCTGTTCCCTCTCAGGTAGCCCCTGTCCAATCTGAGTGGCCCAATGGGCCCTCTGCTCCTATGTGGGGGCATCTGGTATGAGCTCTCAGAGCCAGGATATCTGTGACACTGCAACACAGGGCCAAAGGAAGGGCAGGGGCCTGAGCACGT... |
Task1_train_20131 | This variant affects the gene NPC2 (NPC intracellular cholesterol transporter 2) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Niemann-Pick disease, type C2 | TTATCAAGATACATATCTTTAATACAGGTCCACTGCAGCAGGATCTACCTTATGAGTGCTTGGTAGAAAAAGAGGTAGGTGCAGCAGGGATGGGTCAGAGGTGAAGGTGGGGATTGGAGGGCAGAAAGAAGGCTGGAAAAAGCTACCTCTCTGCCATGGAGCTAACAAACTACTGCTCTCTTGTTTTGTTAAGAGATTAATGGAGAAACCAGGATTTTCTGATGACAATGTTAAGACAACTTGGATCTTTAATTATTTGGTACCTGGCTAAAATCTTTTAACATTGCACAGGCTTTGGAGTTATAAGACCCAGCTCAAAA... | TTATCAAGATACATATCTTTAATACAGGTCCACTGCAGCAGGATCTACCTTATGAGTGCTTGGTAGAAAAAGAGGTAGGTGCAGCAGGGATGGGTCAGAGGTGAAGGTGGGGATTGGAGGGCAGAAAGAAGGCTGGAAAAAGCTACCTCTCTGCCATGGAGCTAACAAACTACTGCTCTCTTGTTTTGTTAAGAGATTAATGGAGAAACCAGGATTTTCTGATGACAATGTTAAGACAACTTGGATCTTTAATTATTTGGTACCTGGCTAAAATCTTTTAACATTGCACAGGCTTTGGAGTTATAAGACCCAGCTCAAAA... |
Task1_train_20132 | Here is a mutation in NPC2 (NPC intracellular cholesterol transporter 2) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Niemann-Pick disease, type C2 | TAGAAAAAGAGGTAGGTGCAGCAGGGATGGGTCAGAGGTGAAGGTGGGGATTGGAGGGCAGAAAGAAGGCTGGAAAAAGCTACCTCTCTGCCATGGAGCTAACAAACTACTGCTCTCTTGTTTTGTTAAGAGATTAATGGAGAAACCAGGATTTTCTGATGACAATGTTAAGACAACTTGGATCTTTAATTATTTGGTACCTGGCTAAAATCTTTTAACATTGCACAGGCTTTGGAGTTATAAGACCCAGCTCAAAACCTGGGCTCCACTGCTTCTTAGTGGAGTGGACTCTGTTCATATTGCATAACTTCAGAGGCTCA... | TAGAAAAAGAGGTAGGTGCAGCAGGGATGGGTCAGAGGTGAAGGTGGGGATTGGAGGGCAGAAAGAAGGCTGGAAAAAGCTACCTCTCTGCCATGGAGCTAACAAACTACTGCTCTCTTGTTTTGTTAAGAGATTAATGGAGAAACCAGGATTTTCTGATGACAATGTTAAGACAACTTGGATCTTTAATTATTTGGTACCTGGCTAAAATCTTTTAACATTGCACAGGCTTTGGAGTTATAAGACCCAGCTCAAAACCTGGGCTCCACTGCTTCTTAGTGGAGTGGACTCTGTTCATATTGCATAACTTCAGAGGCTCA... |
Task1_train_20133 | This alteration in NPC2 (NPC intracellular cholesterol transporter 2) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Niemann-Pick disease, type C | TAGAAAAAGAGGTAGGTGCAGCAGGGATGGGTCAGAGGTGAAGGTGGGGATTGGAGGGCAGAAAGAAGGCTGGAAAAAGCTACCTCTCTGCCATGGAGCTAACAAACTACTGCTCTCTTGTTTTGTTAAGAGATTAATGGAGAAACCAGGATTTTCTGATGACAATGTTAAGACAACTTGGATCTTTAATTATTTGGTACCTGGCTAAAATCTTTTAACATTGCACAGGCTTTGGAGTTATAAGACCCAGCTCAAAACCTGGGCTCCACTGCTTCTTAGTGGAGTGGACTCTGTTCATATTGCATAACTTCAGAGGCTCA... | TAGAAAAAGAGGTAGGTGCAGCAGGGATGGGTCAGAGGTGAAGGTGGGGATTGGAGGGCAGAAAGAAGGCTGGAAAAAGCTACCTCTCTGCCATGGAGCTAACAAACTACTGCTCTCTTGTTTTGTTAAGAGATTAATGGAGAAACCAGGATTTTCTGATGACAATGTTAAGACAACTTGGATCTTTAATTATTTGGTACCTGGCTAAAATCTTTTAACATTGCACAGGCTTTGGAGTTATAAGACCCAGCTCAAAACCTGGGCTCCACTGCTTCTTAGTGGAGTGGACTCTGTTCATATTGCATAACTTCAGAGGCTCA... |
Task1_train_20134 | Located on Chromosome 14, this mutation impacts NPC2 (NPC intracellular cholesterol transporter 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Niemann-Pick disease, type C2 | AGCTAACAAACTACTGCTCTCTTGTTTTGTTAAGAGATTAATGGAGAAACCAGGATTTTCTGATGACAATGTTAAGACAACTTGGATCTTTAATTATTTGGTACCTGGCTAAAATCTTTTAACATTGCACAGGCTTTGGAGTTATAAGACCCAGCTCAAAACCTGGGCTCCACTGCTTCTTAGTGGAGTGGACTCTGTTCATATTGCATAACTTCAGAGGCTCAAATTTCTTCAGCTGTAAAATAGAGATAATATCACCTCTACATAGGATGGTCATGAGATCCAAGTGAAATATTGTATATAAAAATGGCATCAGCCGT... | AGCTAACAAACTACTGCTCTCTTGTTTTGTTAAGAGATTAATGGAGAAACCAGGATTTTCTGATGACAATGTTAAGACAACTTGGATCTTTAATTATTTGGTACCTGGCTAAAATCTTTTAACATTGCACAGGCTTTGGAGTTATAAGACCCAGCTCAAAACCTGGGCTCCACTGCTTCTTAGTGGAGTGGACTCTGTTCATATTGCATAACTTCAGAGGCTCAAATTTCTTCAGCTGTAAAATAGAGATAATATCACCTCTACATAGGATGGTCATGAGATCCAAGTGAAATATTGTATATAAAAATGGCATCAGCCGT... |
Task1_train_20135 | Here is a genetic alteration in NPC2 (NPC intracellular cholesterol transporter 2) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Niemann-Pick disease, type C2 | CCTCAGAACTCTAATCCAGTCCCAAGGCCTCCCGTGTCCTCAATAATGGTATCACTTACAGAGGGATATTCGCTTTTCACTGGTAGTTTATTCAGGTAGCTATAGGTCTTGTCTTTTTGGATAGGGCAGTTAATTCCACTCTTACAACCATCAGGCTCAGGAATGGGAAAGGGAACTGGGACGCCCATCAGGATGCCATGCACCACGGCCTTGCTGCTTTTAGACTGAATATCTAAGAGAAAAAAAGAGAATCAGATGGCAAAGAAAATAACCTATTTTCAAACTCTAAATCAAAAATTCAGAAATAATCCCAAGCAACA... | CCTCAGAACTCTAATCCAGTCCCAAGGCCTCCCGTGTCCTCAATAATGGTATCACTTACAGAGGGATATTCGCTTTTCACTGGTAGTTTATTCAGGTAGCTATAGGTCTTGTCTTTTTGGATAGGGCAGTTAATTCCACTCTTACAACCATCAGGCTCAGGAATGGGAAAGGGAACTGGGACGCCCATCAGGATGCCATGCACCACGGCCTTGCTGCTTTTAGACTGAATATCTAAGAGAAAAAAAGAGAATCAGATGGCAAAGAAAATAACCTATTTTCAAACTCTAAATCAAAAATTCAGAAATAATCCCAAGCAACA... |
Task1_train_20136 | A mutation found in NPC2 (NPC intracellular cholesterol transporter 2) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Niemann-Pick disease, type C2 | TACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCGGAATGAGTTATTAAAATTAATAGTGTCTTCATCCAAACGCTGGCTACTAAGTTTAATGGAGGGAAAGGCAGTAATTTGAAGCGATAATAGCTTTCAAGTGCCAGTCTCCTAAATCAATGGAATAGCATTTAAGTGTTAATCGGCCAGCACTCCATTCCTTAATCAATCCTGT... | TACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCGGAATGAGTTATTAAAATTAATAGTGTCTTCATCCAAACGCTGGCTACTAAGTTTAATGGAGGGAAAGGCAGTAATTTGAAGCGATAATAGCTTTCAAGTGCCAGTCTCCTAAATCAATGGAATAGCATTTAAGTGTTAATCGGCCAGCACTCCATTCCTTAATCAATCCTGT... |
Task1_train_20137 | A mutation on Chromosome 14 affecting NPC2 (NPC intracellular cholesterol transporter 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Niemann-Pick disease, type C2 | TACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCGGAATGAGTTATTAAAATTAATAGTGTCTTCATCCAAACGCTGGCTACTAAGTTTAATGGAGGGAAAGGCAGTAATTTGAAGCGATAATAGCTTTCAAGTGCCAGTCTCCTAAATCAATGGAATAGCATTTAAGTGTTAATCGGCCAGCACTCCATTCCTTAATCAATCCTGT... | TACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCGGAATGAGTTATTAAAATTAATAGTGTCTTCATCCAAACGCTGGCTACTAAGTTTAATGGAGGGAAAGGCAGTAATTTGAAGCGATAATAGCTTTCAAGTGCCAGTCTCCTAAATCAATGGAATAGCATTTAAGTGTTAATCGGCCAGCACTCCATTCCTTAATCAATCCTGT... |
Task1_train_20138 | A variant on Chromosome 14 in gene NPC2 (NPC intracellular cholesterol transporter 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Niemann-Pick disease, type C | TACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCGGAATGAGTTATTAAAATTAATAGTGTCTTCATCCAAACGCTGGCTACTAAGTTTAATGGAGGGAAAGGCAGTAATTTGAAGCGATAATAGCTTTCAAGTGCCAGTCTCCTAAATCAATGGAATAGCATTTAAGTGTTAATCGGCCAGCACTCCATTCCTTAATCAATCCTGT... | TACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCGGAATGAGTTATTAAAATTAATAGTGTCTTCATCCAAACGCTGGCTACTAAGTTTAATGGAGGGAAAGGCAGTAATTTGAAGCGATAATAGCTTTCAAGTGCCAGTCTCCTAAATCAATGGAATAGCATTTAAGTGTTAATCGGCCAGCACTCCATTCCTTAATCAATCCTGT... |
Task1_train_20139 | This is a variant in NPC2 (NPC intracellular cholesterol transporter 2), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Niemann-Pick disease, type C2 | ACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCGGAATGAGTTATTAAAATTAATAGTGTCTTCATCCAAACGCTGGCTACTAAGTTTAATGGAGGGAAAGGCAGTAATTTGAAGCGATAATAGCTTTCAAGTGCCAGTCTCCTAAATCAATGGAATAGCATTTAAGTGTTAATCGGCCAGCACTCCATTCCTTAATCAATCCTGTC... | ACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCGGAATGAGTTATTAAAATTAATAGTGTCTTCATCCAAACGCTGGCTACTAAGTTTAATGGAGGGAAAGGCAGTAATTTGAAGCGATAATAGCTTTCAAGTGCCAGTCTCCTAAATCAATGGAATAGCATTTAAGTGTTAATCGGCCAGCACTCCATTCCTTAATCAATCCTGTC... |
Task1_train_20140 | A sequence alteration has been identified in LTBP2 (latent transforming growth factor beta binding protein 2) on Chromosome 14. Is it disease-inducing or harmless? | Pathogenic; Glaucoma 3, primary congenital, D | GGCTGGCTTTGTCTCTGGGAGCATGCAAGGACTGGTACCCTCTGGGAGATCCTGGCAACATTCCTCTCCCCACCTCTCCCCTGCCCTACTTTGTCCCCAAACAGCAGGGATGGAAGACAGGGCCTTTGCTCTGCTCCTTCTTTCTAGATCCCCAGTTCCAAGGTGAGGGCATCCCCCTCCCTGGGGCCTGGCCCAGCCCTGCAGGGTATCCCCTTTGCTCCCCCTCACCAGAGCTCCTCGGGGGACACAGAGCACACTGCTGGCTCCAGGCCTCGCCGTCCTGGCAGCAGCATTCCGTGTAGGTGGTGCGGTGCCCACGC... | GGCTGGCTTTGTCTCTGGGAGCATGCAAGGACTGGTACCCTCTGGGAGATCCTGGCAACATTCCTCTCCCCACCTCTCCCCTGCCCTACTTTGTCCCCAAACAGCAGGGATGGAAGACAGGGCCTTTGCTCTGCTCCTTCTTTCTAGATCCCCAGTTCCAAGGTGAGGGCATCCCCCTCCCTGGGGCCTGGCCCAGCCCTGCAGGGTATCCCCTTTGCTCCCCCTCACCAGAGCTCCTCGGGGGACACAGAGCACACTGCTGGCTCCAGGCCTCGCCGTCCTGGCAGCAGCATTCCGTGTAGGTGGTGCGGTGCCCACGC... |
Task1_train_20141 | This variant lies on Chromosome 14 and affects the gene LTBP2 (latent transforming growth factor beta binding protein 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | GGCTGGCTTTGTCTCTGGGAGCATGCAAGGACTGGTACCCTCTGGGAGATCCTGGCAACATTCCTCTCCCCACCTCTCCCCTGCCCTACTTTGTCCCCAAACAGCAGGGATGGAAGACAGGGCCTTTGCTCTGCTCCTTCTTTCTAGATCCCCAGTTCCAAGGTGAGGGCATCCCCCTCCCTGGGGCCTGGCCCAGCCCTGCAGGGTATCCCCTTTGCTCCCCCTCACCAGAGCTCCTCGGGGGACACAGAGCACACTGCTGGCTCCAGGCCTCGCCGTCCTGGCAGCAGCATTCCGTGTAGGTGGTGCGGTGCCCACGC... | GGCTGGCTTTGTCTCTGGGAGCATGCAAGGACTGGTACCCTCTGGGAGATCCTGGCAACATTCCTCTCCCCACCTCTCCCCTGCCCTACTTTGTCCCCAAACAGCAGGGATGGAAGACAGGGCCTTTGCTCTGCTCCTTCTTTCTAGATCCCCAGTTCCAAGGTGAGGGCATCCCCCTCCCTGGGGCCTGGCCCAGCCCTGCAGGGTATCCCCTTTGCTCCCCCTCACCAGAGCTCCTCGGGGGACACAGAGCACACTGCTGGCTCCAGGCCTCGCCGTCCTGGCAGCAGCATTCCGTGTAGGTGGTGCGGTGCCCACGC... |
Task1_train_20142 | A genomic change on Chromosome 14 affects LTBP2 (latent transforming growth factor beta binding protein 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Weill-Marchesani syndrome 3 | TAGCCCACAGGCTCCTCACCCACACAGTCCCAGCCTGAGGGAGAGATCTCGAAGCCCTGGTCACAGAGGCAGCGGAAGGAGCCATCAGTGTTGTCACAGAAGCCGTGGCTGCCACACATGGTGTCGTTGGCGCACTCGTCTATGTCTGTGGGACAGTGGGAACCAGGATAGAGGATGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGTGTGTGCTCACTCTCTCACACGCATGCACACTCTCTCGTTCTCTGCTGAGAATACTTATTTGGCTTATTAGCACCAAGACCTGTGAAAAGCAGCCTCTCAACCCAGGAT... | TAGCCCACAGGCTCCTCACCCACACAGTCCCAGCCTGAGGGAGAGATCTCGAAGCCCTGGTCACAGAGGCAGCGGAAGGAGCCATCAGTGTTGTCACAGAAGCCGTGGCTGCCACACATGGTGTCGTTGGCGCACTCGTCTATGTCTGTGGGACAGTGGGAACCAGGATAGAGGATGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGTGTGTGCTCACTCTCTCACACGCATGCACACTCTCTCGTTCTCTGCTGAGAATACTTATTTGGCTTATTAGCACCAAGACCTGTGAAAAGCAGCCTCTCAACCCAGGAT... |
Task1_train_20143 | Gene LTBP2 (latent transforming growth factor beta binding protein 2) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Weill-Marchesani syndrome 1 | TAGCCCACAGGCTCCTCACCCACACAGTCCCAGCCTGAGGGAGAGATCTCGAAGCCCTGGTCACAGAGGCAGCGGAAGGAGCCATCAGTGTTGTCACAGAAGCCGTGGCTGCCACACATGGTGTCGTTGGCGCACTCGTCTATGTCTGTGGGACAGTGGGAACCAGGATAGAGGATGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGTGTGTGCTCACTCTCTCACACGCATGCACACTCTCTCGTTCTCTGCTGAGAATACTTATTTGGCTTATTAGCACCAAGACCTGTGAAAAGCAGCCTCTCAACCCAGGAT... | TAGCCCACAGGCTCCTCACCCACACAGTCCCAGCCTGAGGGAGAGATCTCGAAGCCCTGGTCACAGAGGCAGCGGAAGGAGCCATCAGTGTTGTCACAGAAGCCGTGGCTGCCACACATGGTGTCGTTGGCGCACTCGTCTATGTCTGTGGGACAGTGGGAACCAGGATAGAGGATGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGTGTGTGCTCACTCTCTCACACGCATGCACACTCTCTCGTTCTCTGCTGAGAATACTTATTTGGCTTATTAGCACCAAGACCTGTGAAAAGCAGCCTCTCAACCCAGGAT... |
Task1_train_20144 | The following genetic variant occurs in DLST (dihydrolipoamide S-succinyltransferase) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Paragangliomas 7 | TCAGCAGTGTCAGGGGCCCTAAAGGTCTAGAAGTAGAAGCCCTAGTCCCTCCTGTTGAGTGGTGCTCTAGGGAGGTAGAAGGCCATCTTTGTTTTGCCCAAATGTATACCTCTTCTTTTTCCCATTCTTCTCATGCCTCCCTGACTGGCTCTCATCTTTTTCAGTGGCCCCCTTCTGCTTGCCCACACATGTAGGCGGCTCTCAAAAGTTCTCGTGGCCTCTTTTTCACATTACATGCTTCCTCTGGATGTCTTATCTAACAATACAACATGGACTTTCTGCGGAAATGATTCCCAAGCCTTTATTTTCCCATTAGTTGC... | TCAGCAGTGTCAGGGGCCCTAAAGGTCTAGAAGTAGAAGCCCTAGTCCCTCCTGTTGAGTGGTGCTCTAGGGAGGTAGAAGGCCATCTTTGTTTTGCCCAAATGTATACCTCTTCTTTTTCCCATTCTTCTCATGCCTCCCTGACTGGCTCTCATCTTTTTCAGTGGCCCCCTTCTGCTTGCCCACACATGTAGGCGGCTCTCAAAAGTTCTCGTGGCCTCTTTTTCACATTACATGCTTCCTCTGGATGTCTTATCTAACAATACAACATGGACTTTCTGCGGAAATGATTCCCAAGCCTTTATTTTCCCATTAGTTGC... |
Task1_train_20145 | A mutation found in EIF2B2 (eukaryotic translation initiation factor 2B subunit beta) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Leukoencephalopathy with vanishing white matter 2 | TATGGTAAATGCTAGCCAGCATGTAAATTGATACAATTTTAAAGACATTTAAAAATTAACACACAATTAGCCAGGCATGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAAAAGGCTGAGGTGGGAGGATTATTTGAGCCAGGGGAGGTTGAGGCTGCAGTGAGCAGTGAGCATGCCACTGCACTCCAGCCTGGGCAACAGTGTGAGACCCTGTCTCAAAATAAACAAACAAATCAATAAATAAAAACTAAAACACAGCAAAATTGACACATATTTTATGGCTTTTTAGAGCAACTGTATTTTCAACTTCAATTTCTGATG... | TATGGTAAATGCTAGCCAGCATGTAAATTGATACAATTTTAAAGACATTTAAAAATTAACACACAATTAGCCAGGCATGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAAAAGGCTGAGGTGGGAGGATTATTTGAGCCAGGGGAGGTTGAGGCTGCAGTGAGCAGTGAGCATGCCACTGCACTCCAGCCTGGGCAACAGTGTGAGACCCTGTCTCAAAATAAACAAACAAATCAATAAATAAAAACTAAAACACAGCAAAATTGACACATATTTTATGGCTTTTTAGAGCAACTGTATTTTCAACTTCAATTTCTGATG... |
Task1_train_20146 | This genomic variant is located on Chromosome 14, within the EIF2B2 (eukaryotic translation initiation factor 2B subunit beta) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Vanishing white matter disease | CCGGTTATAACTGAACAACCCGAGCCCCACGTCTCTGATTGGCTCAGGCAGAGGAAGGGGGCGGGAGATCGGCAACGAAGGGCGTAGCCGGCTTCCACTCAAACTTGAGGTTTCCCCCCATCCCCTCACAGCGGAAGCCGACCTCGCCCGCCCCGGAAGTGCAAACTGTGTGGTCTGGCAGGTGTGGATTCCGCCGGTGAAGGCTGAAGGCAGCTACCTTAAAGATGCCGGGATCCGCAGCGAAGGGCTCGGAGTTGTCAGAGAGGATCGAGAGCTTCGTGGAGACCCTGAAGCGGGGTGGTGGGCCGCGCAGCTCCGAG... | CCGGTTATAACTGAACAACCCGAGCCCCACGTCTCTGATTGGCTCAGGCAGAGGAAGGGGGCGGGAGATCGGCAACGAAGGGCGTAGCCGGCTTCCACTCAAACTTGAGGTTTCCCCCCATCCCCTCACAGCGGAAGCCGACCTCGCCCGCCCCGGAAGTGCAAACTGTGTGGTCTGGCAGGTGTGGATTCCGCCGGTGAAGGCTGAAGGCAGCTACCTTAAAGATGCCGGGATCCGCAGCGAAGGGCTCGGAGTTGTCAGAGAGGATCGAGAGCTTCGTGGAGACCCTGAAGCGGGGTGGTGGGCCGCGCAGCTCCGAG... |
Task1_train_20147 | Consider a variant on Chromosome 14 in gene EIF2B2 (eukaryotic translation initiation factor 2B subunit beta). Determine its clinical classification and disease relevance. | Pathogenic; Vanishing white matter disease | CAGGACCAAAGTAATCCTCTCTACTTTTCCTTACAGACCAACCCTTGATAGACTACAGATCTGTGGAGTGGAACAGACTCTATTAGGACAGAGTTTTATTTTCATTGTAAAGAAACAAAATGAACTCCCTAGAGAGCCAAGGTCGATAGACCTCCTTCACTATCTGAATTTTTATACACACGTACACGTATACCATTTCTATCCCCCTTGTCATTGCGGTCCAAGTGACTTGCAGATATTCATTGTAATCAGAGGATGAAGAAGCTGCTTCCAAATTGCTCCCCCATTTTTTCTTCTCTGGCCAGTCTCTCTCATGTAGA... | CAGGACCAAAGTAATCCTCTCTACTTTTCCTTACAGACCAACCCTTGATAGACTACAGATCTGTGGAGTGGAACAGACTCTATTAGGACAGAGTTTTATTTTCATTGTAAAGAAACAAAATGAACTCCCTAGAGAGCCAAGGTCGATAGACCTCCTTCACTATCTGAATTTTTATACACACGTACACGTATACCATTTCTATCCCCCTTGTCATTGCGGTCCAAGTGACTTGCAGATATTCATTGTAATCAGAGGATGAAGAAGCTGCTTCCAAATTGCTCCCCCATTTTTTCTTCTCTGGCCAGTCTCTCTCATGTAGA... |
Task1_train_20148 | This variant lies on Chromosome 14 and affects the gene EIF2B2 (eukaryotic translation initiation factor 2B subunit beta). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Leukoencephalopathy with vanishing white matter 2 | CAGGACCAAAGTAATCCTCTCTACTTTTCCTTACAGACCAACCCTTGATAGACTACAGATCTGTGGAGTGGAACAGACTCTATTAGGACAGAGTTTTATTTTCATTGTAAAGAAACAAAATGAACTCCCTAGAGAGCCAAGGTCGATAGACCTCCTTCACTATCTGAATTTTTATACACACGTACACGTATACCATTTCTATCCCCCTTGTCATTGCGGTCCAAGTGACTTGCAGATATTCATTGTAATCAGAGGATGAAGAAGCTGCTTCCAAATTGCTCCCCCATTTTTTCTTCTCTGGCCAGTCTCTCTCATGTAGA... | CAGGACCAAAGTAATCCTCTCTACTTTTCCTTACAGACCAACCCTTGATAGACTACAGATCTGTGGAGTGGAACAGACTCTATTAGGACAGAGTTTTATTTTCATTGTAAAGAAACAAAATGAACTCCCTAGAGAGCCAAGGTCGATAGACCTCCTTCACTATCTGAATTTTTATACACACGTACACGTATACCATTTCTATCCCCCTTGTCATTGCGGTCCAAGTGACTTGCAGATATTCATTGTAATCAGAGGATGAAGAAGCTGCTTCCAAATTGCTCCCCCATTTTTTCTTCTCTGGCCAGTCTCTCTCATGTAGA... |
Task1_train_20149 | Consider this mutation in EIF2B2 (eukaryotic translation initiation factor 2B subunit beta) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; See cases | CAGGACCAAAGTAATCCTCTCTACTTTTCCTTACAGACCAACCCTTGATAGACTACAGATCTGTGGAGTGGAACAGACTCTATTAGGACAGAGTTTTATTTTCATTGTAAAGAAACAAAATGAACTCCCTAGAGAGCCAAGGTCGATAGACCTCCTTCACTATCTGAATTTTTATACACACGTACACGTATACCATTTCTATCCCCCTTGTCATTGCGGTCCAAGTGACTTGCAGATATTCATTGTAATCAGAGGATGAAGAAGCTGCTTCCAAATTGCTCCCCCATTTTTTCTTCTCTGGCCAGTCTCTCTCATGTAGA... | CAGGACCAAAGTAATCCTCTCTACTTTTCCTTACAGACCAACCCTTGATAGACTACAGATCTGTGGAGTGGAACAGACTCTATTAGGACAGAGTTTTATTTTCATTGTAAAGAAACAAAATGAACTCCCTAGAGAGCCAAGGTCGATAGACCTCCTTCACTATCTGAATTTTTATACACACGTACACGTATACCATTTCTATCCCCCTTGTCATTGCGGTCCAAGTGACTTGCAGATATTCATTGTAATCAGAGGATGAAGAAGCTGCTTCCAAATTGCTCCCCCATTTTTTCTTCTCTGGCCAGTCTCTCTCATGTAGA... |
Task1_train_20150 | This is a variant in NEK9 (NIMA related kinase 9), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; NEK9-related lethal skeletal dysplasia | TCTGACCACAATGTAAAAGTTATAACTTACTGCAAAACCAAACAAAATATGATCTTCTCTCTTAACCACTGTATTCCTCACTTCCCAAAGACATTTCCCATTTTCCTTTGGGTTTTGGAGTCTACATGGAATCTAACCAAAAGACCCACACTTCAGAAAACCACTGGTACCTGAAACATTGGTACTTACCAGTTCCAATGGATAAGCCACTGCTATTGGAACGGATGGTCTTAGAATTCAATACTTTCTCTGAGAAAAAATATTTGGTAGGTAAGCACTGTATACTGATATAGGCAAGAAAAATGAGAGAAGACTAGGAT... | TCTGACCACAATGTAAAAGTTATAACTTACTGCAAAACCAAACAAAATATGATCTTCTCTCTTAACCACTGTATTCCTCACTTCCCAAAGACATTTCCCATTTTCCTTTGGGTTTTGGAGTCTACATGGAATCTAACCAAAAGACCCACACTTCAGAAAACCACTGGTACCTGAAACATTGGTACTTACCAGTTCCAATGGATAAGCCACTGCTATTGGAACGGATGGTCTTAGAATTCAATACTTTCTCTGAGAAAAAATATTTGGTAGGTAAGCACTGTATACTGATATAGGCAAGAAAAATGAGAGAAGACTAGGAT... |
Task1_train_20151 | Given a variant located on Chromosome 14 and affecting NEK9 (NIMA related kinase 9), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Nevus comedonicus syndrome | AAATCGAAGGAAAATCAGGCTGAGAATGGAAAAAAGTCCTGGTGACCAAAAGGCCTTTCAAGTAAGTTATATTACTAAGAAGAGGGTGCCAGGTAGTTTTCCATCTCCAACAGAAAACAAGAGGAAATAAGCTGAATATGTAATCAGAGAATGCAGCACATGAGGCAGAACTTTCTGACAACCAAAGTTTTAGATTCTGACTTAGGGTTTATAAAACATGAACTTTCCATCCCAGAAGGTATTTATATAAGGAGAGAATCGTTGACATTTACCTTGGTTATACACTCTGCATATCTAACAAGGGCAGGGCAAAGAATTAA... | AAATCGAAGGAAAATCAGGCTGAGAATGGAAAAAAGTCCTGGTGACCAAAAGGCCTTTCAAGTAAGTTATATTACTAAGAAGAGGGTGCCAGGTAGTTTTCCATCTCCAACAGAAAACAAGAGGAAATAAGCTGAATATGTAATCAGAGAATGCAGCACATGAGGCAGAACTTTCTGACAACCAAAGTTTTAGATTCTGACTTAGGGTTTATAAAACATGAACTTTCCATCCCAGAAGGTATTTATATAAGGAGAGAATCGTTGACATTTACCTTGGTTATACACTCTGCATATCTAACAAGGGCAGGGCAAAGAATTAA... |
Task1_train_20152 | A mutation in NEK9 (NIMA related kinase 9), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Nevus comedonicus syndrome | AAAGGAAAAACAAAGAGATGTCTAACACCTTGAGCTCAAACATTAAATAAGAGATAAAGTGAAATCTACTAAAGATCCTAACCTGGACAAAACAGTAAAGCATTTTGCTGCTTTTAGATAAGTCCCTAATCAGTGCTGGAAAAAGGCTATGAGGTCAGAGCTGTAACGTGGGCAATGACTTAAATGCCTGCTAGTGGGCCCAGGAAAAAGACTTCTGAAGACATGCATTAAAAGTATGGAGAACTTGCAAGAATATTGAGAAAAGTATGCAAGATTTAGGGAGTACAGTTATATTTCACAGTGCTAGAAAATAAAATAAA... | AAAGGAAAAACAAAGAGATGTCTAACACCTTGAGCTCAAACATTAAATAAGAGATAAAGTGAAATCTACTAAAGATCCTAACCTGGACAAAACAGTAAAGCATTTTGCTGCTTTTAGATAAGTCCCTAATCAGTGCTGGAAAAAGGCTATGAGGTCAGAGCTGTAACGTGGGCAATGACTTAAATGCCTGCTAGTGGGCCCAGGAAAAAGACTTCTGAAGACATGCATTAAAAGTATGGAGAACTTGCAAGAATATTGAGAAAAGTATGCAAGATTTAGGGAGTACAGTTATATTTCACAGTGCTAGAAAATAAAATAAA... |
Task1_train_20153 | Chromosome 14 houses a mutation in gene FLVCR2 (FLVCR choline and putative heme transporter 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Fowler syndrome | GCTGTTCCCCTGAAGCTAAGCCTGAGTTGGAACATTCCTTGCCCTTTGCAGTATCAGGCTAGGGCAGGCAAGAGGCTTAGAGAGGAGCGGGAGGAATGAATGGGAAGACGGGAGGAGACTATTTTCTTTCTTCTCCTTCCCACGCTCCACCTCACTTGGCTTTTCAGGAATGTCTCCTTACGGGATCTCTTCACTCGGAAATGGACTTTCTAAGTGGCTGAGTATGTACTATGAAGGGCAGATGGGAATGCTGCTTGAATGAGATGTTGCTGAGAGCCTCATGATCATTGCAACCATCAGCCTGTCAGTTGTAGTGATGT... | GCTGTTCCCCTGAAGCTAAGCCTGAGTTGGAACATTCCTTGCCCTTTGCAGTATCAGGCTAGGGCAGGCAAGAGGCTTAGAGAGGAGCGGGAGGAATGAATGGGAAGACGGGAGGAGACTATTTTCTTTCTTCTCCTTCCCACGCTCCACCTCACTTGGCTTTTCAGGAATGTCTCCTTACGGGATCTCTTCACTCGGAAATGGACTTTCTAAGTGGCTGAGTATGTACTATGAAGGGCAGATGGGAATGCTGCTTGAATGAGATGTTGCTGAGAGCCTCATGATCATTGCAACCATCAGCCTGTCAGTTGTAGTGATGT... |
Task1_train_20154 | Here is a genetic alteration in FLVCR2 (FLVCR choline and putative heme transporter 2) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Fowler syndrome | TAGCGTGCCATTTGGTGCCTCCACCATGATTCTGGCTTCAGGGGTGATGTGTAAAGAAAAGCTTTAAAGATTTTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCACCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAACAAACTACAAAAAACATTAGCCAGGCGTGGTGGCGGGCCCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATGGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGTGCCAC... | TAGCGTGCCATTTGGTGCCTCCACCATGATTCTGGCTTCAGGGGTGATGTGTAAAGAAAAGCTTTAAAGATTTTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCACCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAACAAACTACAAAAAACATTAGCCAGGCGTGGTGGCGGGCCCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATGGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGTGCCAC... |
Task1_train_20155 | Gene FLVCR2 (FLVCR choline and putative heme transporter 2), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Fowler syndrome | ATCCCAGCACTTTAGCAGGCCAAGGCAGGTGGAGCACTTGAGGTCAGGAGTTCGATACCAGCCTGGCCAACACGGCAAAACACCGTCTCTATGAAAAATACAAAAATTAGCCAGGCGTGATGCGCACAACTGTCCCAGCTACTCAGCAGGCTGAGGCACAAGAATTGCTGGAGCCCAGGAGGTAGAGGTTTCAGCGAGCTGTGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACACTGTCTCTGAAAACAAAACAAAACTCCAAGAACATAGCAGAGGGCTTGACATGCGGCAGATACTTAATAGATGCTT... | ATCCCAGCACTTTAGCAGGCCAAGGCAGGTGGAGCACTTGAGGTCAGGAGTTCGATACCAGCCTGGCCAACACGGCAAAACACCGTCTCTATGAAAAATACAAAAATTAGCCAGGCGTGATGCGCACAACTGTCCCAGCTACTCAGCAGGCTGAGGCACAAGAATTGCTGGAGCCCAGGAGGTAGAGGTTTCAGCGAGCTGTGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACACTGTCTCTGAAAACAAAACAAAACTCCAAGAACATAGCAGAGGGCTTGACATGCGGCAGATACTTAATAGATGCTT... |
Task1_train_20156 | Gene FLVCR2 (FLVCR choline and putative heme transporter 2), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Fowler syndrome | ATCCCAGCACTTTAGCAGGCCAAGGCAGGTGGAGCACTTGAGGTCAGGAGTTCGATACCAGCCTGGCCAACACGGCAAAACACCGTCTCTATGAAAAATACAAAAATTAGCCAGGCGTGATGCGCACAACTGTCCCAGCTACTCAGCAGGCTGAGGCACAAGAATTGCTGGAGCCCAGGAGGTAGAGGTTTCAGCGAGCTGTGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACACTGTCTCTGAAAACAAAACAAAACTCCAAGAACATAGCAGAGGGCTTGACATGCGGCAGATACTTAATAGATGCTT... | ATCCCAGCACTTTAGCAGGCCAAGGCAGGTGGAGCACTTGAGGTCAGGAGTTCGATACCAGCCTGGCCAACACGGCAAAACACCGTCTCTATGAAAAATACAAAAATTAGCCAGGCGTGATGCGCACAACTGTCCCAGCTACTCAGCAGGCTGAGGCACAAGAATTGCTGGAGCCCAGGAGGTAGAGGTTTCAGCGAGCTGTGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACACTGTCTCTGAAAACAAAACAAAACTCCAAGAACATAGCAGAGGGCTTGACATGCGGCAGATACTTAATAGATGCTT... |
Task1_train_20157 | Here is a variant affecting TTLL5 (tubulin tyrosine ligase like 5) on Chromosome 14. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Retinal dystrophy | ATCCCTTGTACTATTTAGGATTTATCTGTTTATCCAGGGTCTCTTGGTTCTTAGTTGTTATTTTAAAATATCTTTAGAGAAAGAGATTTGTAGTAGCTTCTCCATATCTGTGAGCTTTTAGCGTTCATGTTTTCAGAAGTTTATTTTTTGAGTTTTTGTTGATAAAAAGAAATCTTTTTTTCCTAAAGAATGGAGTTCTTGACAATGTAGACGGTATAATGTAGACAATATAAACTCTTGTTTATATAATGAACAGTGGTTCGTGAACGTAAACACTGGGCTTTAACTTATTAGGGTGTTGAATTAACTTCCACTCATTT... | ATCCCTTGTACTATTTAGGATTTATCTGTTTATCCAGGGTCTCTTGGTTCTTAGTTGTTATTTTAAAATATCTTTAGAGAAAGAGATTTGTAGTAGCTTCTCCATATCTGTGAGCTTTTAGCGTTCATGTTTTCAGAAGTTTATTTTTTGAGTTTTTGTTGATAAAAAGAAATCTTTTTTTCCTAAAGAATGGAGTTCTTGACAATGTAGACGGTATAATGTAGACAATATAAACTCTTGTTTATATAATGAACAGTGGTTCGTGAACGTAAACACTGGGCTTTAACTTATTAGGGTGTTGAATTAACTTCCACTCATTT... |
Task1_train_20158 | The gene TGFB3 (transforming growth factor beta 3) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Rienhoff syndrome | ATCCCGCCAGCCAGGATTTTAGGACAGGGACATAGCCCTCCGAACGATGGTGGAAGTCAGTGGGTGCCACATGGGATGAAGACTGAGAGGGAAACCCTTAGAATTGGCTGGGCGTGGACAAAGCGGGGAAAAAAGTACTGACCAAACTCACTTCAGTCTTGGAGAACTCAAGGAACAAGGGACACACATACGTACACACACACACAGGCATGAACACATCAGACACATCCTTCAGCCTGCATACTTTAGCTTCAGATAGACTTTTCTTTTACTAGAGGCAAAGTGATCTCACTAGAAGAATGTGTTTCTCAGGAGCTGCT... | ATCCCGCCAGCCAGGATTTTAGGACAGGGACATAGCCCTCCGAACGATGGTGGAAGTCAGTGGGTGCCACATGGGATGAAGACTGAGAGGGAAACCCTTAGAATTGGCTGGGCGTGGACAAAGCGGGGAAAAAAGTACTGACCAAACTCACTTCAGTCTTGGAGAACTCAAGGAACAAGGGACACACATACGTACACACACACACAGGCATGAACACATCAGACACATCCTTCAGCCTGCATACTTTAGCTTCAGATAGACTTTTCTTTTACTAGAGGCAAAGTGATCTCACTAGAAGAATGTGTTTCTCAGGAGCTGCT... |
Task1_train_20159 | With a mutation on Chromosome 14 in gene TGFB3 (transforming growth factor beta 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Rienhoff syndrome | CTGCATGAGGAAGAGTAAAGAGGCAAAGGTGGCCCTGCACCCTTTTCTATCACAATACAAAGCAGTGCTATGAAGCGCTCCACATAAAACCAAGCACTGAATGTTATTAGCCAACTCAGCTTTGTTGAGGTTGGTTTTATTTTTACCCTCCTAATGTGCACCCAGACAGAAATCAATTCTAAGTTTATGCAGCTTGACTACTATAGTAGGTGACTGCTGAGACTCAATCCAAAGGCCATTTAGCCAAATAAGGCATATCCTTCTATTAGAACCGTGGTTCAACAGATCACCCAAATGTGATTATCAGGCCCCTTCAATTC... | CTGCATGAGGAAGAGTAAAGAGGCAAAGGTGGCCCTGCACCCTTTTCTATCACAATACAAAGCAGTGCTATGAAGCGCTCCACATAAAACCAAGCACTGAATGTTATTAGCCAACTCAGCTTTGTTGAGGTTGGTTTTATTTTTACCCTCCTAATGTGCACCCAGACAGAAATCAATTCTAAGTTTATGCAGCTTGACTACTATAGTAGGTGACTGCTGAGACTCAATCCAAAGGCCATTTAGCCAAATAAGGCATATCCTTCTATTAGAACCGTGGTTCAACAGATCACCCAAATGTGATTATCAGGCCCCTTCAATTC... |
Task1_train_20160 | This alteration in IFT43 (intraflagellar transport 43) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | GACCAGCCCCAGCAACACGGCGAAACCCAGTCTCTACAAAAAAATGGAAAAATTAGCCCGGCATGTTGGCGCAGGCATCTACTTGGGAGGCTGAGGCAGGATAATCACTTGAGCCAGGGAGGCAGAGTTTACAGGGGGCCAAGATTGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACCGTGTCTCAAACAGACAAGCAAACAAACAAATGTGGTGTGGCAGAAAATCAAGCAGGGAAGGAGGATGGGGTGTGCCTAGGTTGGGGGATGTTGCAGTTTCAAATAGGGTGATAAGGGAAGGCCTTTGAGCAGACAG... | GACCAGCCCCAGCAACACGGCGAAACCCAGTCTCTACAAAAAAATGGAAAAATTAGCCCGGCATGTTGGCGCAGGCATCTACTTGGGAGGCTGAGGCAGGATAATCACTTGAGCCAGGGAGGCAGAGTTTACAGGGGGCCAAGATTGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACCGTGTCTCAAACAGACAAGCAAACAAACAAATGTGGTGTGGCAGAAAATCAAGCAGGGAAGGAGGATGGGGTGTGCCTAGGTTGGGGGATGTTGCAGTTTCAAATAGGGTGATAAGGGAAGGCCTTTGAGCAGACAG... |
Task1_train_20161 | With a mutation on Chromosome 14 in gene IFT43 (intraflagellar transport 43), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | GACCAGCCCCAGCAACACGGCGAAACCCAGTCTCTACAAAAAAATGGAAAAATTAGCCCGGCATGTTGGCGCAGGCATCTACTTGGGAGGCTGAGGCAGGATAATCACTTGAGCCAGGGAGGCAGAGTTTACAGGGGGCCAAGATTGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACCGTGTCTCAAACAGACAAGCAAACAAACAAATGTGGTGTGGCAGAAAATCAAGCAGGGAAGGAGGATGGGGTGTGCCTAGGTTGGGGGATGTTGCAGTTTCAAATAGGGTGATAAGGGAAGGCCTTTGAGCAGACAG... | GACCAGCCCCAGCAACACGGCGAAACCCAGTCTCTACAAAAAAATGGAAAAATTAGCCCGGCATGTTGGCGCAGGCATCTACTTGGGAGGCTGAGGCAGGATAATCACTTGAGCCAGGGAGGCAGAGTTTACAGGGGGCCAAGATTGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACCGTGTCTCAAACAGACAAGCAAACAAACAAATGTGGTGTGGCAGAAAATCAAGCAGGGAAGGAGGATGGGGTGTGCCTAGGTTGGGGGATGTTGCAGTTTCAAATAGGGTGATAAGGGAAGGCCTTTGAGCAGACAG... |
Task1_train_20162 | Here is a mutation in IFT43 (intraflagellar transport 43) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | ACCAGCCCCAGCAACACGGCGAAACCCAGTCTCTACAAAAAAATGGAAAAATTAGCCCGGCATGTTGGCGCAGGCATCTACTTGGGAGGCTGAGGCAGGATAATCACTTGAGCCAGGGAGGCAGAGTTTACAGGGGGCCAAGATTGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACCGTGTCTCAAACAGACAAGCAAACAAACAAATGTGGTGTGGCAGAAAATCAAGCAGGGAAGGAGGATGGGGTGTGCCTAGGTTGGGGGATGTTGCAGTTTCAAATAGGGTGATAAGGGAAGGCCTTTGAGCAGACAGT... | ACCAGCCCCAGCAACACGGCGAAACCCAGTCTCTACAAAAAAATGGAAAAATTAGCCCGGCATGTTGGCGCAGGCATCTACTTGGGAGGCTGAGGCAGGATAATCACTTGAGCCAGGGAGGCAGAGTTTACAGGGGGCCAAGATTGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACCGTGTCTCAAACAGACAAGCAAACAAACAAATGTGGTGTGGCAGAAAATCAAGCAGGGAAGGAGGATGGGGTGTGCCTAGGTTGGGGGATGTTGCAGTTTCAAATAGGGTGATAAGGGAAGGCCTTTGAGCAGACAGT... |
Task1_train_20163 | This alteration in ESRRB (estrogen related receptor beta) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 35 | GAGGCTCAGGGAGTGAGGCAGCCTGTCAAGGACAGGGACAGATCAACACCACCCAGGCCACCCTCAGACCCAATCCTGGCTGGAATGTGACCCACAGCTGGGTTTCCCTGAACACACACCTTAATCTCCCAGGTGTGAGCTCAGCTGTCTTTCTTGTCCATGTTGAGAGAAGAACAAGTCCTCTCCCTTCATCCTGGGAGCTGGGATACGGGAGGGGAACACCCTTGCCCGCCTTCTCCTCCACCAGCATGGCCGGGGTGGAGGGGCTTGGTTTACAGGAAACATTCTGTTATCCCACACAGTGATCTTGCCATACTGGT... | GAGGCTCAGGGAGTGAGGCAGCCTGTCAAGGACAGGGACAGATCAACACCACCCAGGCCACCCTCAGACCCAATCCTGGCTGGAATGTGACCCACAGCTGGGTTTCCCTGAACACACACCTTAATCTCCCAGGTGTGAGCTCAGCTGTCTTTCTTGTCCATGTTGAGAGAAGAACAAGTCCTCTCCCTTCATCCTGGGAGCTGGGATACGGGAGGGGAACACCCTTGCCCGCCTTCTCCTCCACCAGCATGGCCGGGGTGGAGGGGCTTGGTTTACAGGAAACATTCTGTTATCCCACACAGTGATCTTGCCATACTGGT... |
Task1_train_20164 | Gene ESRRB (estrogen related receptor beta), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 35 | TGGAAAACCCTGGCTCAGGCTGACCTCAAGCACTTTGGGACAGGAGTCGAAGAGACACAATACCAAAACAGTACTGTGATGTGCTGTTCTTCATTTGTACGTTCCAGTTACATTTTTTTTTGAGACGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCATGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGTGATTATAGGTGCCCACCCCTATGCCCAACTAATTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTATTGGCCAGG... | TGGAAAACCCTGGCTCAGGCTGACCTCAAGCACTTTGGGACAGGAGTCGAAGAGACACAATACCAAAACAGTACTGTGATGTGCTGTTCTTCATTTGTACGTTCCAGTTACATTTTTTTTTGAGACGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCATGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGTGATTATAGGTGCCCACCCCTATGCCCAACTAATTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTATTGGCCAGG... |
Task1_train_20165 | Consider a variant on Chromosome 14 in gene ESRRB (estrogen related receptor beta). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 35 | GCTGGAATTACAGGCACGTGCCACCACACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCATGGTAGCTAGGCTGATCTTGAACTCCTGACCTCAAGGGCTACGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCTGACCAGGGGAATTACCTTTAAACAGGAAGCCTGGGTGGGCTGCTGAGTAGACTCCCCCTCTCCCCGACTAAAAAACGTTTAGCACCAGGTACAAATACACCAGGTTGTGGGGTTGAAAAAGACATTGCTGACAAAAATGAGGAGTTGTGGGCTCACTCAGTGA... | GCTGGAATTACAGGCACGTGCCACCACACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCATGGTAGCTAGGCTGATCTTGAACTCCTGACCTCAAGGGCTACGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCTGACCAGGGGAATTACCTTTAAACAGGAAGCCTGGGTGGGCTGCTGAGTAGACTCCCCCTCTCCCCGACTAAAAAACGTTTAGCACCAGGTACAAATACACCAGGTTGTGGGGTTGAAAAAGACATTGCTGACAAAAATGAGGAGTTGTGGGCTCACTCAGTGA... |
Task1_train_20166 | This sequence variant lies in ESRRB (estrogen related receptor beta) on Chromosome 14. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 35 | AGGAAGATTCTGTTTCTTCTGCTCCCCATCTAGGAAGTACCAGAGTTTATTAGAAAAGGGAAAGGGCCCTGAAGGTCAACTGACTGGGGCTCTGTGAGGGTGATACTCACTGCCTTTGGGGAAAAGAACAGAAGTTGAACCTGGCCTGTCGCAGCAGAGGCTGAGGTGGCAACCCAGCTTTCTTCTCTGAGGACTCTGGTCTCCGTGTCTGACTTCTTGTGTGTTTCAGTCAAGGCCCATTTCATGATCAGGAAAAGGGAGCTGTTCAGTGAGCTCAAGGTAAGGACTCCAAGAAGGAACGTTGTCTGAGGCTGGCCTGG... | AGGAAGATTCTGTTTCTTCTGCTCCCCATCTAGGAAGTACCAGAGTTTATTAGAAAAGGGAAAGGGCCCTGAAGGTCAACTGACTGGGGCTCTGTGAGGGTGATACTCACTGCCTTTGGGGAAAAGAACAGAAGTTGAACCTGGCCTGTCGCAGCAGAGGCTGAGGTGGCAACCCAGCTTTCTTCTCTGAGGACTCTGGTCTCCGTGTCTGACTTCTTGTGTGTTTCAGTCAAGGCCCATTTCATGATCAGGAAAAGGGAGCTGTTCAGTGAGCTCAAGGTAAGGACTCCAAGAAGGAACGTTGTCTGAGGCTGGCCTGG... |
Task1_train_20167 | The gene ESRRB (estrogen related receptor beta) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 35 | GGAACTGTGATAATTCACTTGGAGAATGCTCACAGGGTAAGGGTGGTCTGCCTGGTCAGGGACCTTCAGCTCCAGGAGTGACCCCTAAGGTTCAACTGCCATGCCCTGTGTGGAAGCCAGGGAAGAAGTGGCATTTGGAGACAGGACAGCAGATGGATGGGGGAGACCACACAAGCCAAAGAGCTGGGTGGTCCAGAAGCTCAGGACCACCCAGGCCTCCAGGCAAGTCCAGAGAGGAGAAGTGAGTGATGCCAATGGTGTGCCAACAACAACAACAATATTTAGTAACAACAGCCACAGCCATGACCAGCACCCTAGCA... | GGAACTGTGATAATTCACTTGGAGAATGCTCACAGGGTAAGGGTGGTCTGCCTGGTCAGGGACCTTCAGCTCCAGGAGTGACCCCTAAGGTTCAACTGCCATGCCCTGTGTGGAAGCCAGGGAAGAAGTGGCATTTGGAGACAGGACAGCAGATGGATGGGGGAGACCACACAAGCCAAAGAGCTGGGTGGTCCAGAAGCTCAGGACCACCCAGGCCTCCAGGCAAGTCCAGAGAGGAGAAGTGAGTGATGCCAATGGTGTGCCAACAACAACAACAATATTTAGTAACAACAGCCACAGCCATGACCAGCACCCTAGCA... |
Task1_train_20168 | This gene mutation involves IRF2BPL (interferon regulatory factor 2 binding protein like) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | CGGAGTTGCATGGCCTTAGCCCTAGAAAGACAAAATTGCTGACTCAGCGCAGTTAATATCAATTGAATTTATTACAAGTTACTAAGCTCCAAGGCACATTACAGTGTTCTGTTAACTACAGAAATGTATAAAGGACAAACAGAGCAGATTCTCCATGTCTAGCATTTCGCTCTACTGTTCAAAAGCATCCGTGCATCAATAAAGCAAAAACAAAACAACACGTGTAGATCCAACACATTCAGGTCAGTAGAAACAAACCAAAACATTTTCCCCTCACAAACTTGCAACAAAATACACCCCATCCCCCCCGACACCCCCTT... | CGGAGTTGCATGGCCTTAGCCCTAGAAAGACAAAATTGCTGACTCAGCGCAGTTAATATCAATTGAATTTATTACAAGTTACTAAGCTCCAAGGCACATTACAGTGTTCTGTTAACTACAGAAATGTATAAAGGACAAACAGAGCAGATTCTCCATGTCTAGCATTTCGCTCTACTGTTCAAAAGCATCCGTGCATCAATAAAGCAAAAACAAAACAACACGTGTAGATCCAACACATTCAGGTCAGTAGAAACAAACCAAAACATTTTCCCCTCACAAACTTGCAACAAAATACACCCCATCCCCCCCGACACCCCCTT... |
Task1_train_20169 | This variant impacts the gene IRF2BPL (interferon regulatory factor 2 binding protein like) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | CAGAGCAGATTCTCCATGTCTAGCATTTCGCTCTACTGTTCAAAAGCATCCGTGCATCAATAAAGCAAAAACAAAACAACACGTGTAGATCCAACACATTCAGGTCAGTAGAAACAAACCAAAACATTTTCCCCTCACAAACTTGCAACAAAATACACCCCATCCCCCCCGACACCCCCTTACCATTTTGCAAACAAAACAGAAAAACAAAACAAAACAACAAAATAAAGTGAAGACTTCAACACTTGGGGCAGTTTAGAAGGAAGCTTTCACCATTTTATAGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT... | CAGAGCAGATTCTCCATGTCTAGCATTTCGCTCTACTGTTCAAAAGCATCCGTGCATCAATAAAGCAAAAACAAAACAACACGTGTAGATCCAACACATTCAGGTCAGTAGAAACAAACCAAAACATTTTCCCCTCACAAACTTGCAACAAAATACACCCCATCCCCCCCGACACCCCCTTACCATTTTGCAAACAAAACAGAAAAACAAAACAAAACAACAAAATAAAGTGAAGACTTCAACACTTGGGGCAGTTTAGAAGGAAGCTTTCACCATTTTATAGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT... |
Task1_train_20170 | A sequence alteration has been identified in POMT2 (protein O-mannosyltransferase 2) on Chromosome 14. Is it disease-inducing or harmless? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2N | GCAGCCTAATTGGGAGGGAGGGATGGGTAGAGGCTGGCTGGGCTTCTCCTTCCTCACCCTCATGCAAGGTGGCTGCCCCTCTGGCTCCTTCAGAGCTCTTCCCTTCCAAGTTCCTACTGAGAAATAAGAAGGCACAAAGGAAAATCAGCCACCTCCTGGAGGTCACTGTGGGCCACCTGCTTTGCTAAGAGCCAAGCACAGACCCCTGCATTCTCCCTGCAGGAGAGCCCACCCGGCTCAGAAGAAAGCAATTCCGCCTGTGGGGAGGAGAGGAAGGGAGGGGAGGGGAGGACACACGGTGAGGTGGAAGCAGCGAGCAG... | GCAGCCTAATTGGGAGGGAGGGATGGGTAGAGGCTGGCTGGGCTTCTCCTTCCTCACCCTCATGCAAGGTGGCTGCCCCTCTGGCTCCTTCAGAGCTCTTCCCTTCCAAGTTCCTACTGAGAAATAAGAAGGCACAAAGGAAAATCAGCCACCTCCTGGAGGTCACTGTGGGCCACCTGCTTTGCTAAGAGCCAAGCACAGACCCCTGCATTCTCCCTGCAGGAGAGCCCACCCGGCTCAGAAGAAAGCAATTCCGCCTGTGGGGAGGAGAGGAAGGGAGGGGAGGGGAGGACACACGGTGAGGTGGAAGCAGCGAGCAG... |
Task1_train_20171 | The following genetic variant occurs in POMT2 (protein O-mannosyltransferase 2) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | AGGTGGCTGCCCCTCTGGCTCCTTCAGAGCTCTTCCCTTCCAAGTTCCTACTGAGAAATAAGAAGGCACAAAGGAAAATCAGCCACCTCCTGGAGGTCACTGTGGGCCACCTGCTTTGCTAAGAGCCAAGCACAGACCCCTGCATTCTCCCTGCAGGAGAGCCCACCCGGCTCAGAAGAAAGCAATTCCGCCTGTGGGGAGGAGAGGAAGGGAGGGGAGGGGAGGACACACGGTGAGGTGGAAGCAGCGAGCAGAGCTTCTCCATCCCTCCTCTCCTTCCCTGCCAGAAATGCAATTAAGCAAGTGGCCCAGACTCAGCC... | AGGTGGCTGCCCCTCTGGCTCCTTCAGAGCTCTTCCCTTCCAAGTTCCTACTGAGAAATAAGAAGGCACAAAGGAAAATCAGCCACCTCCTGGAGGTCACTGTGGGCCACCTGCTTTGCTAAGAGCCAAGCACAGACCCCTGCATTCTCCCTGCAGGAGAGCCCACCCGGCTCAGAAGAAAGCAATTCCGCCTGTGGGGAGGAGAGGAAGGGAGGGGAGGGGAGGACACACGGTGAGGTGGAAGCAGCGAGCAGAGCTTCTCCATCCCTCCTCTCCTTCCCTGCCAGAAATGCAATTAAGCAAGTGGCCCAGACTCAGCC... |
Task1_train_20172 | Given this variant in gene POMT2 (protein O-mannosyltransferase 2) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | AGGTGGCTGCCCCTCTGGCTCCTTCAGAGCTCTTCCCTTCCAAGTTCCTACTGAGAAATAAGAAGGCACAAAGGAAAATCAGCCACCTCCTGGAGGTCACTGTGGGCCACCTGCTTTGCTAAGAGCCAAGCACAGACCCCTGCATTCTCCCTGCAGGAGAGCCCACCCGGCTCAGAAGAAAGCAATTCCGCCTGTGGGGAGGAGAGGAAGGGAGGGGAGGGGAGGACACACGGTGAGGTGGAAGCAGCGAGCAGAGCTTCTCCATCCCTCCTCTCCTTCCCTGCCAGAAATGCAATTAAGCAAGTGGCCCAGACTCAGCC... | AGGTGGCTGCCCCTCTGGCTCCTTCAGAGCTCTTCCCTTCCAAGTTCCTACTGAGAAATAAGAAGGCACAAAGGAAAATCAGCCACCTCCTGGAGGTCACTGTGGGCCACCTGCTTTGCTAAGAGCCAAGCACAGACCCCTGCATTCTCCCTGCAGGAGAGCCCACCCGGCTCAGAAGAAAGCAATTCCGCCTGTGGGGAGGAGAGGAAGGGAGGGGAGGGGAGGACACACGGTGAGGTGGAAGCAGCGAGCAGAGCTTCTCCATCCCTCCTCTCCTTCCCTGCCAGAAATGCAATTAAGCAAGTGGCCCAGACTCAGCC... |
Task1_train_20173 | This sequence change occurs on Chromosome 14, altering POMT2 (protein O-mannosyltransferase 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2N | AGGTGGCTGCCCCTCTGGCTCCTTCAGAGCTCTTCCCTTCCAAGTTCCTACTGAGAAATAAGAAGGCACAAAGGAAAATCAGCCACCTCCTGGAGGTCACTGTGGGCCACCTGCTTTGCTAAGAGCCAAGCACAGACCCCTGCATTCTCCCTGCAGGAGAGCCCACCCGGCTCAGAAGAAAGCAATTCCGCCTGTGGGGAGGAGAGGAAGGGAGGGGAGGGGAGGACACACGGTGAGGTGGAAGCAGCGAGCAGAGCTTCTCCATCCCTCCTCTCCTTCCCTGCCAGAAATGCAATTAAGCAAGTGGCCCAGACTCAGCC... | AGGTGGCTGCCCCTCTGGCTCCTTCAGAGCTCTTCCCTTCCAAGTTCCTACTGAGAAATAAGAAGGCACAAAGGAAAATCAGCCACCTCCTGGAGGTCACTGTGGGCCACCTGCTTTGCTAAGAGCCAAGCACAGACCCCTGCATTCTCCCTGCAGGAGAGCCCACCCGGCTCAGAAGAAAGCAATTCCGCCTGTGGGGAGGAGAGGAAGGGAGGGGAGGGGAGGACACACGGTGAGGTGGAAGCAGCGAGCAGAGCTTCTCCATCCCTCCTCTCCTTCCCTGCCAGAAATGCAATTAAGCAAGTGGCCCAGACTCAGCC... |
Task1_train_20174 | Consider this mutation in POMT2 (protein O-mannosyltransferase 2) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | AGTAAGCCGAGATTGCGCCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAAAAGAAGAAGAAAAACTCCTTCGATGAATAGCAAATGGGTTTCATACTGTAAGGGTGGGTGGGGTGGGGGAGAGTGGGAACAGATGAGGCTATGAACGAGTGTGGCCAGACTGCATATTCCAGGCTGGAATGTGGCCTTTACCCGATGAGGCACTGAAGCCCCCACTGGAGCTTAAGCTGGGAAGCTAAATAGTAAGACTTTAGTAGTAATAACAGCCTTCTAAAAAGTAATTCCATACAAATGACCACTTGCC... | AGTAAGCCGAGATTGCGCCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAAAAGAAGAAGAAAAACTCCTTCGATGAATAGCAAATGGGTTTCATACTGTAAGGGTGGGTGGGGTGGGGGAGAGTGGGAACAGATGAGGCTATGAACGAGTGTGGCCAGACTGCATATTCCAGGCTGGAATGTGGCCTTTACCCGATGAGGCACTGAAGCCCCCACTGGAGCTTAAGCTGGGAAGCTAAATAGTAAGACTTTAGTAGTAATAACAGCCTTCTAAAAAGTAATTCCATACAAATGACCACTTGCC... |
Task1_train_20175 | A sequence alteration has been identified in POMT2 (protein O-mannosyltransferase 2) on Chromosome 14. Is it disease-inducing or harmless? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | TGTTGCCGCCGGAGTTACTGTTATTGTTACACTCACTCCTACTGCACATCTTATTGTGGCCTATCCTTGCTAAGTACAGGGGACTCTGTTTAGAGATAAGGGACAATTTGGCTATAACGAAAATAGCTTCTTCCTTCAGGTTAGGGTGCTGGCCTTTCTGAGCCCTTAGCATATACCCAAAGGATAGAACATAGCAGGAAAGAAACAGGAAAAAGCCCCTGGGGTCCCTCACCTATCATTTTAACCACAGACCCAGAAAATCATCCGACCCCTCCACAGGCTTAGGAGCAAAAGGAAAACCAGAAGCAAGATGCTGCAAA... | TGTTGCCGCCGGAGTTACTGTTATTGTTACACTCACTCCTACTGCACATCTTATTGTGGCCTATCCTTGCTAAGTACAGGGGACTCTGTTTAGAGATAAGGGACAATTTGGCTATAACGAAAATAGCTTCTTCCTTCAGGTTAGGGTGCTGGCCTTTCTGAGCCCTTAGCATATACCCAAAGGATAGAACATAGCAGGAAAGAAACAGGAAAAAGCCCCTGGGGTCCCTCACCTATCATTTTAACCACAGACCCAGAAAATCATCCGACCCCTCCACAGGCTTAGGAGCAAAAGGAAAACCAGAAGCAAGATGCTGCAAA... |
Task1_train_20176 | This variant impacts the gene VIPAS39 (VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Arthrogryposis, renal dysfunction, and cholestasis 2 | TTGAAAAATCTAAAATTCAACAGTGGGCTGGCTAAAAAATGATGGTAAACCCATACAATTTAATACTATGCTGCTATTTAAAAAAAAGAAAGAGAAAATGAGAACACTCTTTATATACTGACATGGAAAGATCTCCAAGCTATATTAACACATAAAAAGAGCAAGGTATGAAGCATGCTACTGCTTGTGTAAAAATGGGATAAGAATACATGTTTCTATATACTTTTCCAGATGCAAAAAGAGTCTTTAGATGAATACACAGGAACCAAGCAACGATTGTTTTTTGGGAGGACATGAACTGAAAACTGAGAAGATACATA... | TTGAAAAATCTAAAATTCAACAGTGGGCTGGCTAAAAAATGATGGTAAACCCATACAATTTAATACTATGCTGCTATTTAAAAAAAAGAAAGAGAAAATGAGAACACTCTTTATATACTGACATGGAAAGATCTCCAAGCTATATTAACACATAAAAAGAGCAAGGTATGAAGCATGCTACTGCTTGTGTAAAAATGGGATAAGAATACATGTTTCTATATACTTTTCCAGATGCAAAAAGAGTCTTTAGATGAATACACAGGAACCAAGCAACGATTGTTTTTTGGGAGGACATGAACTGAAAACTGAGAAGATACATA... |
Task1_train_20177 | With a mutation on Chromosome 14 in gene SPTLC2 (serine palmitoyltransferase long chain base subunit 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE | ATATACAGAATCATGTCATGAGGCCCATTATTAAATGAAAATTAATTTGTATCTCATAATGGTCTAGTACACGTTTAGTTCCATAAAACATCATAAGACAAAATGACTTTAACAAATCCATGGTTTCAAAAAATGCACTTTATGCTTTAAAAAACTAAATGGGAGGCAAAGCCCAACAATCCCTCAAGAGAATCTTATGAAAAGGATTAGAACTCTCAGTTGGCAAACATACTTGTTGGCAACAGAAATCTCCTTAGATATCCTAAGGAGATATCCTGGTTACATCTAAATTCTTTCATGAATGTGTACAGTTCTCAGAA... | ATATACAGAATCATGTCATGAGGCCCATTATTAAATGAAAATTAATTTGTATCTCATAATGGTCTAGTACACGTTTAGTTCCATAAAACATCATAAGACAAAATGACTTTAACAAATCCATGGTTTCAAAAAATGCACTTTATGCTTTAAAAAACTAAATGGGAGGCAAAGCCCAACAATCCCTCAAGAGAATCTTATGAAAAGGATTAGAACTCTCAGTTGGCAAACATACTTGTTGGCAACAGAAATCTCCTTAGATATCCTAAGGAGATATCCTGGTTACATCTAAATTCTTTCATGAATGTGTACAGTTCTCAGAA... |
Task1_train_20178 | A variant was discovered on Chromosome 14, affecting SPTLC2 (serine palmitoyltransferase long chain base subunit 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | GTACTAAAAAAACCAAAAGCACAAATATATTGTACTTTAATGATCTCCCAGAGTATTATTTTTCTATCCTTTGGTTCACAGCCACAAAGCTTACTAAAAAACAACTCTCCAAAGTGAGCCTGGTCCCATTAACAAAAAGGTAATATTTGAGATAAAAATCTATCAAACCTGGCCAGGTGCAGTGGCTCACACCTGTAATCCTAGTACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGC... | GTACTAAAAAAACCAAAAGCACAAATATATTGTACTTTAATGATCTCCCAGAGTATTATTTTTCTATCCTTTGGTTCACAGCCACAAAGCTTACTAAAAAACAACTCTCCAAAGTGAGCCTGGTCCCATTAACAAAAAGGTAATATTTGAGATAAAAATCTATCAAACCTGGCCAGGTGCAGTGGCTCACACCTGTAATCCTAGTACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGC... |
Task1_train_20179 | This mutation is located in gene SPTLC2 (serine palmitoyltransferase long chain base subunit 2) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Neuropathy, hereditary sensory and autonomic, type 1C | CAAAAAGTAGACTACTGGTTGCCAAGGACTTGTAGGGGGAAGGGAAACAGTATCCAATGAATGCTACTGAGTATAGCATTTCTTTTAGGAGGAATGAAAATATTTAAAATTAGATGGTGGGGCCAGGCATGGTGACTCACACCTATAATCCCAGTGTTCTGGAAGGCTGAGTTAGGAGAATCACTTGAGGCCAGGATTTCAAGAACACCCTGGGCAACATAGCCTCTTGAAAGAGATCCCCATCTCTACAAAAATCACATTAAAAAATCAGCTGGGCATGGTGGCGTGCACCTATAGTCCTAACTACTTAGGAGGCTGAG... | CAAAAAGTAGACTACTGGTTGCCAAGGACTTGTAGGGGGAAGGGAAACAGTATCCAATGAATGCTACTGAGTATAGCATTTCTTTTAGGAGGAATGAAAATATTTAAAATTAGATGGTGGGGCCAGGCATGGTGACTCACACCTATAATCCCAGTGTTCTGGAAGGCTGAGTTAGGAGAATCACTTGAGGCCAGGATTTCAAGAACACCCTGGGCAACATAGCCTCTTGAAAGAGATCCCCATCTCTACAAAAATCACATTAAAAAATCAGCTGGGCATGGTGGCGTGCACCTATAGTCCTAACTACTTAGGAGGCTGAG... |
Task1_train_20180 | With a mutation on Chromosome 14 in gene LOC105370589, NRXN3 (uncharacterized LOC105370589| neurexin 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Relative macrocephaly | TTCAAACCTAAATCTGGGTCCTGACTTAGAATTTGAATAAGGTAATATAAAGAAAATAGGAAAATAGTTGGGACGCTCAATACTCAGATCCTTGTCTATTTCCCTTCCATTGTTTTCTGCTTATTAAGTTTTTATGGATACGACATTGCTCAGAGATCAGAGCGCCAAAAACCATTCCAGGGTACTGTATCAAATTTCAGTTCAAATAAGAGTAAAACTTTTTTGAAATTCTAATTTCATGGAGAAAGATTAATTTCTGCTTTTAGATGGATTATACCTGGTTTAGAAAGTCATAACAGATTTTTTTCCCATAGGTTATT... | TTCAAACCTAAATCTGGGTCCTGACTTAGAATTTGAATAAGGTAATATAAAGAAAATAGGAAAATAGTTGGGACGCTCAATACTCAGATCCTTGTCTATTTCCCTTCCATTGTTTTCTGCTTATTAAGTTTTTATGGATACGACATTGCTCAGAGATCAGAGCGCCAAAAACCATTCCAGGGTACTGTATCAAATTTCAGTTCAAATAAGAGTAAAACTTTTTTGAAATTCTAATTTCATGGAGAAAGATTAATTTCTGCTTTTAGATGGATTATACCTGGTTTAGAAAGTCATAACAGATTTTTTTCCCATAGGTTATT... |
Task1_train_20181 | Gene LOC105370589, NRXN3 (uncharacterized LOC105370589| neurexin 3), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Short stature | TTCAAACCTAAATCTGGGTCCTGACTTAGAATTTGAATAAGGTAATATAAAGAAAATAGGAAAATAGTTGGGACGCTCAATACTCAGATCCTTGTCTATTTCCCTTCCATTGTTTTCTGCTTATTAAGTTTTTATGGATACGACATTGCTCAGAGATCAGAGCGCCAAAAACCATTCCAGGGTACTGTATCAAATTTCAGTTCAAATAAGAGTAAAACTTTTTTGAAATTCTAATTTCATGGAGAAAGATTAATTTCTGCTTTTAGATGGATTATACCTGGTTTAGAAAGTCATAACAGATTTTTTTCCCATAGGTTATT... | TTCAAACCTAAATCTGGGTCCTGACTTAGAATTTGAATAAGGTAATATAAAGAAAATAGGAAAATAGTTGGGACGCTCAATACTCAGATCCTTGTCTATTTCCCTTCCATTGTTTTCTGCTTATTAAGTTTTTATGGATACGACATTGCTCAGAGATCAGAGCGCCAAAAACCATTCCAGGGTACTGTATCAAATTTCAGTTCAAATAAGAGTAAAACTTTTTTGAAATTCTAATTTCATGGAGAAAGATTAATTTCTGCTTTTAGATGGATTATACCTGGTTTAGAAAGTCATAACAGATTTTTTTCCCATAGGTTATT... |
Task1_train_20182 | A variant found in Chromosome 14 affects CEP128, TSHR (centrosomal protein 128| thyroid stimulating hormone receptor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not specified | AATTCTCTGGTGTTCATTTGTAGTCAGCCCTACCCTAGGCCTTTGCAACCGCTGATCTTTTTCCTGTCCCTATGGTTTTGCCTTTTTGAGAAAGCTATATAAATGAATCATTAATATGAATAATTACATATAAATACGTAATATTTTGAGTTTGGCTTTTTTCACTTAACATTATGCATTCAAGATTTGTTCCATAACAATACCATGGTAATTTTTAAAAAAACAACAACAAAAGCCCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAG... | AATTCTCTGGTGTTCATTTGTAGTCAGCCCTACCCTAGGCCTTTGCAACCGCTGATCTTTTTCCTGTCCCTATGGTTTTGCCTTTTTGAGAAAGCTATATAAATGAATCATTAATATGAATAATTACATATAAATACGTAATATTTTGAGTTTGGCTTTTTTCACTTAACATTATGCATTCAAGATTTGTTCCATAACAATACCATGGTAATTTTTAAAAAAACAACAACAAAAGCCCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAG... |
Task1_train_20183 | Consider this mutation in CEP128, TSHR (centrosomal protein 128| thyroid stimulating hormone receptor) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Familial hyperthyroidism due to mutations in TSH receptor | AATTCTCTGGTGTTCATTTGTAGTCAGCCCTACCCTAGGCCTTTGCAACCGCTGATCTTTTTCCTGTCCCTATGGTTTTGCCTTTTTGAGAAAGCTATATAAATGAATCATTAATATGAATAATTACATATAAATACGTAATATTTTGAGTTTGGCTTTTTTCACTTAACATTATGCATTCAAGATTTGTTCCATAACAATACCATGGTAATTTTTAAAAAAACAACAACAAAAGCCCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAG... | AATTCTCTGGTGTTCATTTGTAGTCAGCCCTACCCTAGGCCTTTGCAACCGCTGATCTTTTTCCTGTCCCTATGGTTTTGCCTTTTTGAGAAAGCTATATAAATGAATCATTAATATGAATAATTACATATAAATACGTAATATTTTGAGTTTGGCTTTTTTCACTTAACATTATGCATTCAAGATTTGTTCCATAACAATACCATGGTAATTTTTAAAAAAACAACAACAAAAGCCCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAG... |
Task1_train_20184 | This variant affects the gene TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hypothyroidism due to TSH receptor mutations | GAGATTTTGGAGTAGGGTGGCCAACTGTCACACTTTGCCCAAGACAGAGGGAATTCCAAGGATATGGGCTTTGCATTTTAAAGCCAGGACAAAAAAATGAAAGATTGTATAAAGAGGATCTTTCCATGCAGGGTCTTGTTTAGGTAAAAATCATGACATAATAGTTTAGGATTAGCATAGTGAGGATTTGGAAGTGAGGAGTTCTAAGATCTTGGGGTATAAACTGTTGATGCTTTCTGTTGAAGCATTGATGGTTCTTTGTTTCAAAAACTCTCTGTAATGAACAATAAAGCAATTTGCCTGGGCAAGAGTCTCCTGGA... | GAGATTTTGGAGTAGGGTGGCCAACTGTCACACTTTGCCCAAGACAGAGGGAATTCCAAGGATATGGGCTTTGCATTTTAAAGCCAGGACAAAAAAATGAAAGATTGTATAAAGAGGATCTTTCCATGCAGGGTCTTGTTTAGGTAAAAATCATGACATAATAGTTTAGGATTAGCATAGTGAGGATTTGGAAGTGAGGAGTTCTAAGATCTTGGGGTATAAACTGTTGATGCTTTCTGTTGAAGCATTGATGGTTCTTTGTTTCAAAAACTCTCTGTAATGAACAATAAAGCAATTTGCCTGGGCAAGAGTCTCCTGGA... |
Task1_train_20185 | This genomic variant is located on Chromosome 14, within the TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Familial gestational hyperthyroidism | GAGATTTTGGAGTAGGGTGGCCAACTGTCACACTTTGCCCAAGACAGAGGGAATTCCAAGGATATGGGCTTTGCATTTTAAAGCCAGGACAAAAAAATGAAAGATTGTATAAAGAGGATCTTTCCATGCAGGGTCTTGTTTAGGTAAAAATCATGACATAATAGTTTAGGATTAGCATAGTGAGGATTTGGAAGTGAGGAGTTCTAAGATCTTGGGGTATAAACTGTTGATGCTTTCTGTTGAAGCATTGATGGTTCTTTGTTTCAAAAACTCTCTGTAATGAACAATAAAGCAATTTGCCTGGGCAAGAGTCTCCTGGA... | GAGATTTTGGAGTAGGGTGGCCAACTGTCACACTTTGCCCAAGACAGAGGGAATTCCAAGGATATGGGCTTTGCATTTTAAAGCCAGGACAAAAAAATGAAAGATTGTATAAAGAGGATCTTTCCATGCAGGGTCTTGTTTAGGTAAAAATCATGACATAATAGTTTAGGATTAGCATAGTGAGGATTTGGAAGTGAGGAGTTCTAAGATCTTGGGGTATAAACTGTTGATGCTTTCTGTTGAAGCATTGATGGTTCTTTGTTTCAAAAACTCTCTGTAATGAACAATAAAGCAATTTGCCTGGGCAAGAGTCTCCTGGA... |
Task1_train_20186 | This sequence change occurs on Chromosome 14, altering TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Familial hyperthyroidism due to mutations in TSH receptor | GAGATTTTGGAGTAGGGTGGCCAACTGTCACACTTTGCCCAAGACAGAGGGAATTCCAAGGATATGGGCTTTGCATTTTAAAGCCAGGACAAAAAAATGAAAGATTGTATAAAGAGGATCTTTCCATGCAGGGTCTTGTTTAGGTAAAAATCATGACATAATAGTTTAGGATTAGCATAGTGAGGATTTGGAAGTGAGGAGTTCTAAGATCTTGGGGTATAAACTGTTGATGCTTTCTGTTGAAGCATTGATGGTTCTTTGTTTCAAAAACTCTCTGTAATGAACAATAAAGCAATTTGCCTGGGCAAGAGTCTCCTGGA... | GAGATTTTGGAGTAGGGTGGCCAACTGTCACACTTTGCCCAAGACAGAGGGAATTCCAAGGATATGGGCTTTGCATTTTAAAGCCAGGACAAAAAAATGAAAGATTGTATAAAGAGGATCTTTCCATGCAGGGTCTTGTTTAGGTAAAAATCATGACATAATAGTTTAGGATTAGCATAGTGAGGATTTGGAAGTGAGGAGTTCTAAGATCTTGGGGTATAAACTGTTGATGCTTTCTGTTGAAGCATTGATGGTTCTTTGTTTCAAAAACTCTCTGTAATGAACAATAAAGCAATTTGCCTGGGCAAGAGTCTCCTGGA... |
Task1_train_20187 | A genomic change on Chromosome 14 affects TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hypothyroidism due to TSH receptor mutations | GAGATTTTGGAGTAGGGTGGCCAACTGTCACACTTTGCCCAAGACAGAGGGAATTCCAAGGATATGGGCTTTGCATTTTAAAGCCAGGACAAAAAAATGAAAGATTGTATAAAGAGGATCTTTCCATGCAGGGTCTTGTTTAGGTAAAAATCATGACATAATAGTTTAGGATTAGCATAGTGAGGATTTGGAAGTGAGGAGTTCTAAGATCTTGGGGTATAAACTGTTGATGCTTTCTGTTGAAGCATTGATGGTTCTTTGTTTCAAAAACTCTCTGTAATGAACAATAAAGCAATTTGCCTGGGCAAGAGTCTCCTGGA... | GAGATTTTGGAGTAGGGTGGCCAACTGTCACACTTTGCCCAAGACAGAGGGAATTCCAAGGATATGGGCTTTGCATTTTAAAGCCAGGACAAAAAAATGAAAGATTGTATAAAGAGGATCTTTCCATGCAGGGTCTTGTTTAGGTAAAAATCATGACATAATAGTTTAGGATTAGCATAGTGAGGATTTGGAAGTGAGGAGTTCTAAGATCTTGGGGTATAAACTGTTGATGCTTTCTGTTGAAGCATTGATGGTTCTTTGTTTCAAAAACTCTCTGTAATGAACAATAAAGCAATTTGCCTGGGCAAGAGTCTCCTGGA... |
Task1_train_20188 | Here’s a variant in TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hypothyroidism due to TSH receptor mutations | ATAGGCGTGAGCCCCTGTGCCCGGCTCTCTGGACATATTTTTTTAAATGGTACTGTTATAATGGTACTCTCAGGTCACTGCTGTAGGAAAGATATTCTTGGCAAAATAACAGCATAATATCATGTAGAGCTTGAAAGAGGAAGCTGGCTTAAAGTCATCATATCTTCCTGTCCCATCTTCTTCTTAGCCCTTCACTAACAAACACATAATTTTTTCCAATTAAACGAGAAAATCACACACACACACACACGAAAACTGAATTTATATTTCTAGTAAACCCACTTGGTTAAAACAATCTCCAGAGCATTCTAAGCCGAGCA... | ATAGGCGTGAGCCCCTGTGCCCGGCTCTCTGGACATATTTTTTTAAATGGTACTGTTATAATGGTACTCTCAGGTCACTGCTGTAGGAAAGATATTCTTGGCAAAATAACAGCATAATATCATGTAGAGCTTGAAAGAGGAAGCTGGCTTAAAGTCATCATATCTTCCTGTCCCATCTTCTTCTTAGCCCTTCACTAACAAACACATAATTTTTTCCAATTAAACGAGAAAATCACACACACACACACACGAAAACTGAATTTATATTTCTAGTAAACCCACTTGGTTAAAACAATCTCCAGAGCATTCTAAGCCGAGCA... |
Task1_train_20189 | A mutation found in TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Familial gestational hyperthyroidism | AGCCACGAGAATCTTGCTCAGTTTCCCACAACTATATAGGATAAATCCAAGTTTTAGAATTCTCCTTTTATTTATTTATTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGAGCTGGAGTGCAATGGTGCGATCTCGGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAATAGCTCCTTTTAACATGGTCACCTAATAAGTGTTCCTCACTTTGTTAAATATATAGTTATTTGATCCTCTCTGCAACCTTTTGATTGGGCATTACATT... | AGCCACGAGAATCTTGCTCAGTTTCCCACAACTATATAGGATAAATCCAAGTTTTAGAATTCTCCTTTTATTTATTTATTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGAGCTGGAGTGCAATGGTGCGATCTCGGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAATAGCTCCTTTTAACATGGTCACCTAATAAGTGTTCCTCACTTTGTTAAATATATAGTTATTTGATCCTCTCTGCAACCTTTTGATTGGGCATTACATT... |
Task1_train_20190 | A mutation on Chromosome 14 affecting TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Familial hyperthyroidism due to mutations in TSH receptor | GTATTAAAATGCAAACACATTACTTGGATGAACTCTTTCAGATGAACACACACAATCAGTGTATCTAGCAGACAACAAAGCAGGGAAATGAGCCATGAGATGCTCTCCCGTTTCACTGACGTGAAAGCATCACTGGGAAAGGCAACCTAAGATGCTTCCAGAAAGCTGGAATTGAAAGATGGCCACACCTTGAAGACAGCATGGCTAAAAGAGAAAGACATGCCTCAAAAAGGACGGATGAGGCCAGAGAGCAAACCCAGATTCATTTTCTTCACAACTGTGCTTAAGTCTGGCTCAAAAGTCCCTCCACTCTCTCACTA... | GTATTAAAATGCAAACACATTACTTGGATGAACTCTTTCAGATGAACACACACAATCAGTGTATCTAGCAGACAACAAAGCAGGGAAATGAGCCATGAGATGCTCTCCCGTTTCACTGACGTGAAAGCATCACTGGGAAAGGCAACCTAAGATGCTTCCAGAAAGCTGGAATTGAAAGATGGCCACACCTTGAAGACAGCATGGCTAAAAGAGAAAGACATGCCTCAAAAAGGACGGATGAGGCCAGAGAGCAAACCCAGATTCATTTTCTTCACAACTGTGCTTAAGTCTGGCTCAAAAGTCCCTCCACTCTCTCACTA... |
Task1_train_20191 | A variant has been detected on Chromosome 14 in TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Thyroid adenoma, hyperfunctioning, somatic | GTATTAAAATGCAAACACATTACTTGGATGAACTCTTTCAGATGAACACACACAATCAGTGTATCTAGCAGACAACAAAGCAGGGAAATGAGCCATGAGATGCTCTCCCGTTTCACTGACGTGAAAGCATCACTGGGAAAGGCAACCTAAGATGCTTCCAGAAAGCTGGAATTGAAAGATGGCCACACCTTGAAGACAGCATGGCTAAAAGAGAAAGACATGCCTCAAAAAGGACGGATGAGGCCAGAGAGCAAACCCAGATTCATTTTCTTCACAACTGTGCTTAAGTCTGGCTCAAAAGTCCCTCCACTCTCTCACTA... | GTATTAAAATGCAAACACATTACTTGGATGAACTCTTTCAGATGAACACACACAATCAGTGTATCTAGCAGACAACAAAGCAGGGAAATGAGCCATGAGATGCTCTCCCGTTTCACTGACGTGAAAGCATCACTGGGAAAGGCAACCTAAGATGCTTCCAGAAAGCTGGAATTGAAAGATGGCCACACCTTGAAGACAGCATGGCTAAAAGAGAAAGACATGCCTCAAAAAGGACGGATGAGGCCAGAGAGCAAACCCAGATTCATTTTCTTCACAACTGTGCTTAAGTCTGGCTCAAAAGTCCCTCCACTCTCTCACTA... |
Task1_train_20192 | This variant lies on Chromosome 14 and affects the gene TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not specified | ATGCCATGCGGCATTGAGAAGGACTGGACAAGGGCTGGGTGGGAGGCTTAAGTGGACCTCAGGGGCAGGGTCTAGATTTTTCCCTAGCCTCCAGTTGAGAAGAGCAAGTCCATTGGACATTTTAAGCAGAACCCAAGAGATCACTCAAACTCTGCTCAGCAGCTGAGGCAAGTTAAAGAATCCCTTTTGTTGTGAGTCTGGTGAGCAAGGAAAAAACTAAATCTTATTTCCACAAGCATGCCTGTATGGTAGTGTCCATTTGTTCATTTGTTAAACAGATATTTACTGAGCACCTTCTATGTGCCTGGCTGTTGTAAATA... | ATGCCATGCGGCATTGAGAAGGACTGGACAAGGGCTGGGTGGGAGGCTTAAGTGGACCTCAGGGGCAGGGTCTAGATTTTTCCCTAGCCTCCAGTTGAGAAGAGCAAGTCCATTGGACATTTTAAGCAGAACCCAAGAGATCACTCAAACTCTGCTCAGCAGCTGAGGCAAGTTAAAGAATCCCTTTTGTTGTGAGTCTGGTGAGCAAGGAAAAAACTAAATCTTATTTCCACAAGCATGCCTGTATGGTAGTGTCCATTTGTTCATTTGTTAAACAGATATTTACTGAGCACCTTCTATGTGCCTGGCTGTTGTAAATA... |
Task1_train_20193 | A variant has been detected on Chromosome 14 in TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Familial hyperthyroidism due to mutations in TSH receptor | GGCAGGGTCTAGATTTTTCCCTAGCCTCCAGTTGAGAAGAGCAAGTCCATTGGACATTTTAAGCAGAACCCAAGAGATCACTCAAACTCTGCTCAGCAGCTGAGGCAAGTTAAAGAATCCCTTTTGTTGTGAGTCTGGTGAGCAAGGAAAAAACTAAATCTTATTTCCACAAGCATGCCTGTATGGTAGTGTCCATTTGTTCATTTGTTAAACAGATATTTACTGAGCACCTTCTATGTGCCTGGCTGTTGTAAATAGAACAGACAAGAATTCCCTCTTGTATTTTGCTTACTGTCTAATGGAGGAAGTCAGAAAATAAA... | GGCAGGGTCTAGATTTTTCCCTAGCCTCCAGTTGAGAAGAGCAAGTCCATTGGACATTTTAAGCAGAACCCAAGAGATCACTCAAACTCTGCTCAGCAGCTGAGGCAAGTTAAAGAATCCCTTTTGTTGTGAGTCTGGTGAGCAAGGAAAAAACTAAATCTTATTTCCACAAGCATGCCTGTATGGTAGTGTCCATTTGTTCATTTGTTAAACAGATATTTACTGAGCACCTTCTATGTGCCTGGCTGTTGTAAATAGAACAGACAAGAATTCCCTCTTGTATTTTGCTTACTGTCTAATGGAGGAAGTCAGAAAATAAA... |
Task1_train_20194 | This mutation occurs in TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1) on Chromosome 14. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypothyroidism due to TSH receptor mutations | TTAAAGAATCCCTTTTGTTGTGAGTCTGGTGAGCAAGGAAAAAACTAAATCTTATTTCCACAAGCATGCCTGTATGGTAGTGTCCATTTGTTCATTTGTTAAACAGATATTTACTGAGCACCTTCTATGTGCCTGGCTGTTGTAAATAGAACAGACAAGAATTCCCTCTTGTATTTTGCTTACTGTCTAATGGAGGAAGTCAGAAAATAAACAGGCTGGCCGGGGGCAGTGGCTCACTTCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCGGATCACTTGAGGTCAAGAGTTCAAGCCCAGCCTGGCCAACATGGT... | TTAAAGAATCCCTTTTGTTGTGAGTCTGGTGAGCAAGGAAAAAACTAAATCTTATTTCCACAAGCATGCCTGTATGGTAGTGTCCATTTGTTCATTTGTTAAACAGATATTTACTGAGCACCTTCTATGTGCCTGGCTGTTGTAAATAGAACAGACAAGAATTCCCTCTTGTATTTTGCTTACTGTCTAATGGAGGAAGTCAGAAAATAAACAGGCTGGCCGGGGGCAGTGGCTCACTTCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCGGATCACTTGAGGTCAAGAGTTCAAGCCCAGCCTGGCCAACATGGT... |
Task1_train_20195 | This mutation occurs in TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1) on Chromosome 14. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypothyroidism due to TSH receptor mutations | GAGCAAGGAAAAAACTAAATCTTATTTCCACAAGCATGCCTGTATGGTAGTGTCCATTTGTTCATTTGTTAAACAGATATTTACTGAGCACCTTCTATGTGCCTGGCTGTTGTAAATAGAACAGACAAGAATTCCCTCTTGTATTTTGCTTACTGTCTAATGGAGGAAGTCAGAAAATAAACAGGCTGGCCGGGGGCAGTGGCTCACTTCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCGGATCACTTGAGGTCAAGAGTTCAAGCCCAGCCTGGCCAACATGGTGAAACCCTGTATCTACTAAAAATACATAAA... | GAGCAAGGAAAAAACTAAATCTTATTTCCACAAGCATGCCTGTATGGTAGTGTCCATTTGTTCATTTGTTAAACAGATATTTACTGAGCACCTTCTATGTGCCTGGCTGTTGTAAATAGAACAGACAAGAATTCCCTCTTGTATTTTGCTTACTGTCTAATGGAGGAAGTCAGAAAATAAACAGGCTGGCCGGGGGCAGTGGCTCACTTCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCGGATCACTTGAGGTCAAGAGTTCAAGCCCAGCCTGGCCAACATGGTGAAACCCTGTATCTACTAAAAATACATAAA... |
Task1_train_20196 | A variant on Chromosome 14 in gene TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Familial gestational hyperthyroidism | GAGCACCTTCTATGTGCCTGGCTGTTGTAAATAGAACAGACAAGAATTCCCTCTTGTATTTTGCTTACTGTCTAATGGAGGAAGTCAGAAAATAAACAGGCTGGCCGGGGGCAGTGGCTCACTTCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCGGATCACTTGAGGTCAAGAGTTCAAGCCCAGCCTGGCCAACATGGTGAAACCCTGTATCTACTAAAAATACATAAATGTTTTATTTTTAAAATATTCAGTTTGAAACTAAATAATGATGAGTAGAGGCAGCCATGGGTTTTTCAGGCAATGGGAACATAGG... | GAGCACCTTCTATGTGCCTGGCTGTTGTAAATAGAACAGACAAGAATTCCCTCTTGTATTTTGCTTACTGTCTAATGGAGGAAGTCAGAAAATAAACAGGCTGGCCGGGGGCAGTGGCTCACTTCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCGGATCACTTGAGGTCAAGAGTTCAAGCCCAGCCTGGCCAACATGGTGAAACCCTGTATCTACTAAAAATACATAAATGTTTTATTTTTAAAATATTCAGTTTGAAACTAAATAATGATGAGTAGAGGCAGCCATGGGTTTTTCAGGCAATGGGAACATAGG... |
Task1_train_20197 | A change on Chromosome 14 affects gene TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Familial hyperthyroidism due to mutations in TSH receptor | ATGTGCCTGGCTGTTGTAAATAGAACAGACAAGAATTCCCTCTTGTATTTTGCTTACTGTCTAATGGAGGAAGTCAGAAAATAAACAGGCTGGCCGGGGGCAGTGGCTCACTTCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCGGATCACTTGAGGTCAAGAGTTCAAGCCCAGCCTGGCCAACATGGTGAAACCCTGTATCTACTAAAAATACATAAATGTTTTATTTTTAAAATATTCAGTTTGAAACTAAATAATGATGAGTAGAGGCAGCCATGGGTTTTTCAGGCAATGGGAACATAGGGTTTTAGAGCT... | ATGTGCCTGGCTGTTGTAAATAGAACAGACAAGAATTCCCTCTTGTATTTTGCTTACTGTCTAATGGAGGAAGTCAGAAAATAAACAGGCTGGCCGGGGGCAGTGGCTCACTTCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCGGATCACTTGAGGTCAAGAGTTCAAGCCCAGCCTGGCCAACATGGTGAAACCCTGTATCTACTAAAAATACATAAATGTTTTATTTTTAAAATATTCAGTTTGAAACTAAATAATGATGAGTAGAGGCAGCCATGGGTTTTTCAGGCAATGGGAACATAGGGTTTTAGAGCT... |
Task1_train_20198 | Gene TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hypothyroidism due to TSH receptor mutations | TTGCTTACTGTCTAATGGAGGAAGTCAGAAAATAAACAGGCTGGCCGGGGGCAGTGGCTCACTTCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCGGATCACTTGAGGTCAAGAGTTCAAGCCCAGCCTGGCCAACATGGTGAAACCCTGTATCTACTAAAAATACATAAATGTTTTATTTTTAAAATATTCAGTTTGAAACTAAATAATGATGAGTAGAGGCAGCCATGGGTTTTTCAGGCAATGGGAACATAGGGTTTTAGAGCTTTGAATAGGAATAATAATAACAATAACCACCATATGGCACTCACAAAGC... | TTGCTTACTGTCTAATGGAGGAAGTCAGAAAATAAACAGGCTGGCCGGGGGCAGTGGCTCACTTCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCGGATCACTTGAGGTCAAGAGTTCAAGCCCAGCCTGGCCAACATGGTGAAACCCTGTATCTACTAAAAATACATAAATGTTTTATTTTTAAAATATTCAGTTTGAAACTAAATAATGATGAGTAGAGGCAGCCATGGGTTTTTCAGGCAATGGGAACATAGGGTTTTAGAGCTTTGAATAGGAATAATAATAACAATAACCACCATATGGCACTCACAAAGC... |
Task1_train_20199 | A variant on Chromosome 14 in gene TSHR, TSHR-AS1 (thyroid stimulating hormone receptor| TSHR antisense RNA 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hypothyroidism due to TSH receptor mutations | AGGCAGCCATGGGTTTTTCAGGCAATGGGAACATAGGGTTTTAGAGCTTTGAATAGGAATAATAATAACAATAACCACCATATGGCACTCACAAAGCTGCAGGTGCTATTGTAAGAGCCTTAAAAAGATAAATTCATTGAATCCTTTAATAACCCTATATGAAATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCC... | AGGCAGCCATGGGTTTTTCAGGCAATGGGAACATAGGGTTTTAGAGCTTTGAATAGGAATAATAATAACAATAACCACCATATGGCACTCACAAAGCTGCAGGTGCTATTGTAAGAGCCTTAAAAAGATAAATTCATTGAATCCTTTAATAACCCTATATGAAATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCC... |
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