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_21500 | This alteration occurs within gene FBN1 (fibrillin 1) located on Chromosome 15. Is it associated with a disease or is it a benign variant? | Pathogenic; Familial ectopia lentis | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... | ACAACTCCTTTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCT... |
Task1_train_21501 | The gene FBN1 (fibrillin 1) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Marfan syndrome | TTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCTCCGTCTCCC... | TTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCTCCGTCTCCC... |
Task1_train_21502 | A variant found in Chromosome 15 affects FBN1 (fibrillin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCTCCGTCTCCC... | TTATCCAGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCTCCGTCTCCC... |
Task1_train_21503 | The gene FBN1 (fibrillin 1) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Marfan syndrome | AGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCTCCGTCTCCCAGGTTC... | AGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCTCCGTCTCCCAGGTTC... |
Task1_train_21504 | A change on Chromosome 15 affects gene FBN1 (fibrillin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCTCCGTCTCCCAGGTTC... | AGTCACGGTGGTTCTCAACCTCTCTTTGCTTAGTCCACAGCACTCAATCCATCAGAAGCCCAGGACAGGCTATGAAGAGAAAACCAAACAAACAAATTAAATCCTGCATCTAAACATATTTATATGATCACAAGAAATATATTATTATATTAACTCTAAGATTTAATGATATAAAAATTACATTATTACTCTTGGGAGCCAATTTTATTGTAAATTTATTTTGTTTTGCTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCTGCTCACTGCAAGCTCCGTCTCCCAGGTTC... |
Task1_train_21505 | A variant found in Chromosome 15 affects FBN1 (fibrillin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Brugada syndrome 1 | AATCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCAC... | AATCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCAC... |
Task1_train_21506 | The variant affects gene FBN1 (fibrillin 1), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AATCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCAC... | AATCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCAC... |
Task1_train_21507 | Mutation context: Chromosome 15, Gene FBN1 (fibrillin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AATCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCAC... | AATCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCAC... |
Task1_train_21508 | This gene mutation involves FBN1 (fibrillin 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Marfan syndrome | AATCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCAC... | AATCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCAC... |
Task1_train_21509 | Gene FBN1 (fibrillin 1) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Marfan syndrome | ATCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCACA... | ATCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCACA... |
Task1_train_21510 | Here is a mutation in FBN1 (fibrillin 1) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | ATCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCACA... | ATCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCACA... |
Task1_train_21511 | Located on Chromosome 15, this mutation impacts FBN1 (fibrillin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Marfan syndrome | TCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCACAC... | TCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCACAC... |
Task1_train_21512 | A variant on Chromosome 15 in gene FBN1 (fibrillin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCACAC... | TCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCACAC... |
Task1_train_21513 | This is a variant in FBN1 (fibrillin 1), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; Marfan syndrome | TCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCACAC... | TCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCACAC... |
Task1_train_21514 | A variant has been detected on Chromosome 15 in FBN1 (fibrillin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCACAC... | TCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCACAC... |
Task1_train_21515 | Assess the clinical impact of this variant on gene FBN1 (fibrillin 1), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCACAC... | TCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACACTAGTTGGTGACAGCCCAGAGAAATGAGACAAATGTCTGACCAGGCCTCACAC... |
Task1_train_21516 | Consider a variant on Chromosome 15 in gene USP8 (ubiquitin specific peptidase 8). Determine its clinical classification and disease relevance. | Pathogenic; Pituitary dependent hypercortisolism | TTCAACAGAATTTGTCACCAGGCAGGAGTACAGTGGCATGATCATAGCTCACCTGACCACCTGGGCTCAAGCCTTGACCACTTGCCTCAAGCGATCCTCCCACCTCGGCTTCCTGAGTAGCTAGGACCACAGGTGCATGCCATCACATCAAGGTTGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGATGGAGTCTCGCTCTGCCACCCAGGCGGGAGTGCAGTGACACAAACTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCACAGTCTCCCAAGTAGCTGGAATTATAGGTGCATA... | TTCAACAGAATTTGTCACCAGGCAGGAGTACAGTGGCATGATCATAGCTCACCTGACCACCTGGGCTCAAGCCTTGACCACTTGCCTCAAGCGATCCTCCCACCTCGGCTTCCTGAGTAGCTAGGACCACAGGTGCATGCCATCACATCAAGGTTGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGATGGAGTCTCGCTCTGCCACCCAGGCGGGAGTGCAGTGACACAAACTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCACAGTCTCCCAAGTAGCTGGAATTATAGGTGCATA... |
Task1_train_21517 | Gene USP8 (ubiquitin specific peptidase 8) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Pituitary dependent hypercortisolism | TCAACAGAATTTGTCACCAGGCAGGAGTACAGTGGCATGATCATAGCTCACCTGACCACCTGGGCTCAAGCCTTGACCACTTGCCTCAAGCGATCCTCCCACCTCGGCTTCCTGAGTAGCTAGGACCACAGGTGCATGCCATCACATCAAGGTTGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGATGGAGTCTCGCTCTGCCACCCAGGCGGGAGTGCAGTGACACAAACTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCACAGTCTCCCAAGTAGCTGGAATTATAGGTGCATAC... | TCAACAGAATTTGTCACCAGGCAGGAGTACAGTGGCATGATCATAGCTCACCTGACCACCTGGGCTCAAGCCTTGACCACTTGCCTCAAGCGATCCTCCCACCTCGGCTTCCTGAGTAGCTAGGACCACAGGTGCATGCCATCACATCAAGGTTGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGATGGAGTCTCGCTCTGCCACCCAGGCGGGAGTGCAGTGACACAAACTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCACAGTCTCCCAAGTAGCTGGAATTATAGGTGCATAC... |
Task1_train_21518 | A mutation in USP8 (ubiquitin specific peptidase 8), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Pituitary dependent hypercortisolism | GAATTTGTCACCAGGCAGGAGTACAGTGGCATGATCATAGCTCACCTGACCACCTGGGCTCAAGCCTTGACCACTTGCCTCAAGCGATCCTCCCACCTCGGCTTCCTGAGTAGCTAGGACCACAGGTGCATGCCATCACATCAAGGTTGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGATGGAGTCTCGCTCTGCCACCCAGGCGGGAGTGCAGTGACACAAACTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCACAGTCTCCCAAGTAGCTGGAATTATAGGTGCATACCACCAT... | GAATTTGTCACCAGGCAGGAGTACAGTGGCATGATCATAGCTCACCTGACCACCTGGGCTCAAGCCTTGACCACTTGCCTCAAGCGATCCTCCCACCTCGGCTTCCTGAGTAGCTAGGACCACAGGTGCATGCCATCACATCAAGGTTGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGATGGAGTCTCGCTCTGCCACCCAGGCGGGAGTGCAGTGACACAAACTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCACAGTCTCCCAAGTAGCTGGAATTATAGGTGCATACCACCAT... |
Task1_train_21519 | Here is a variant affecting TRPM7 (transient receptor potential cation channel subfamily M member 7) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Intestinal hypomagnesemia 1 | TTATTATGTCACAAAAATGGGGCTGAAGAAATAGCTAAAAGTGCTTCTCAATTATACCGTGATTAGATTTGAATTCCTTGTTTTTCATTACCCCTAACTGAAAAATTTCTGAAGCCAGAACATAGCTAATTACAAACAAGGAAAGGAAGAGCTTTAATACCCCCAACAGCATTACAAGGAATAAAGTAAATTAGGCAGGGCGAGGATTAGAATTAAATAATGATGAATTAGTGATAAGTTCTAGCTAAATATTTATAGTACACTTAGCATTTAGTATTTGGTAATTTTTAAAAAGTATATGCATCAATGACATTCATACG... | TTATTATGTCACAAAAATGGGGCTGAAGAAATAGCTAAAAGTGCTTCTCAATTATACCGTGATTAGATTTGAATTCCTTGTTTTTCATTACCCCTAACTGAAAAATTTCTGAAGCCAGAACATAGCTAATTACAAACAAGGAAAGGAAGAGCTTTAATACCCCCAACAGCATTACAAGGAATAAAGTAAATTAGGCAGGGCGAGGATTAGAATTAAATAATGATGAATTAGTGATAAGTTCTAGCTAAATATTTATAGTACACTTAGCATTTAGTATTTGGTAATTTTTAAAAAGTATATGCATCAATGACATTCATACG... |
Task1_train_21520 | This variant affects gene CYP19A1, MIR4713HG, PIRC66 (cytochrome P450 family 19 subfamily A member 1| MIR4713 host gene| piwi-interacting RNA cluster 66) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Aromatase deficiency | CCATGCAGCTCCAGCCAGAGGCAACGTAAACAGAGTGTTACTAATTTTCAAGTGAATTAATTGGGACACATTAAATTGCAAATCCTGGCCTTGCTTTTAGGGGTCTAAGTTATTTGGATGATTGTCTTGACCTGACTACATACGTATTCAGGTACACAGGCATAGTCCATATATTTTTAGGCCATATAGATGATCCAAATAATTCCAAGCTCAAATAAATGTTTTATTCTTTACTAATGTCCATTCTTGAATTCTTGGAATACCTACCTCTTTATTTGGTTTCTGCATCAGTTGGGAGTATCTCTGAGCAGGAATGTCTA... | CCATGCAGCTCCAGCCAGAGGCAACGTAAACAGAGTGTTACTAATTTTCAAGTGAATTAATTGGGACACATTAAATTGCAAATCCTGGCCTTGCTTTTAGGGGTCTAAGTTATTTGGATGATTGTCTTGACCTGACTACATACGTATTCAGGTACACAGGCATAGTCCATATATTTTTAGGCCATATAGATGATCCAAATAATTCCAAGCTCAAATAAATGTTTTATTCTTTACTAATGTCCATTCTTGAATTCTTGGAATACCTACCTCTTTATTTGGTTTCTGCATCAGTTGGGAGTATCTCTGAGCAGGAATGTCTA... |
Task1_train_21521 | A variant was discovered on Chromosome 15, affecting CYP19A1, MIR4713HG, PIRC66 (cytochrome P450 family 19 subfamily A member 1| MIR4713 host gene| piwi-interacting RNA cluster 66). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | GCTCCAGCCAGAGGCAACGTAAACAGAGTGTTACTAATTTTCAAGTGAATTAATTGGGACACATTAAATTGCAAATCCTGGCCTTGCTTTTAGGGGTCTAAGTTATTTGGATGATTGTCTTGACCTGACTACATACGTATTCAGGTACACAGGCATAGTCCATATATTTTTAGGCCATATAGATGATCCAAATAATTCCAAGCTCAAATAAATGTTTTATTCTTTACTAATGTCCATTCTTGAATTCTTGGAATACCTACCTCTTTATTTGGTTTCTGCATCAGTTGGGAGTATCTCTGAGCAGGAATGTCTATTCAGAA... | GCTCCAGCCAGAGGCAACGTAAACAGAGTGTTACTAATTTTCAAGTGAATTAATTGGGACACATTAAATTGCAAATCCTGGCCTTGCTTTTAGGGGTCTAAGTTATTTGGATGATTGTCTTGACCTGACTACATACGTATTCAGGTACACAGGCATAGTCCATATATTTTTAGGCCATATAGATGATCCAAATAATTCCAAGCTCAAATAAATGTTTTATTCTTTACTAATGTCCATTCTTGAATTCTTGGAATACCTACCTCTTTATTTGGTTTCTGCATCAGTTGGGAGTATCTCTGAGCAGGAATGTCTATTCAGAA... |
Task1_train_21522 | This variant lies on Chromosome 15 and affects the gene CYP19A1, MIR4713HG, PIRC66 (cytochrome P450 family 19 subfamily A member 1| MIR4713 host gene| piwi-interacting RNA cluster 66). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Aromatase excess syndrome | TATGAATGTTGCTTTTCCACCTCCACAGAAAACAAAATTAAAGTACTTTAATTCACACTAGCAGGTGGGTTTGGCCCCAGGTACCCTGACATTGGCCTGGTCTTTCTAATCAACTTGAGTGTTTCTGCCCCAGACATAAAAATCCCCTTGGGTTGAGGCAGTAGAGCTCTACTGGGGAACCAGACATACATTTTGTTAATGAAGGCCTATCCTTCTCAAAGCACATTTGGTGGAATCGGGTCTTTATGGATACGGTTTCTTCACCGACTATTTCTCCCTCAAACTCTTGGCCTCTGCTTTTTCTCTTGTAGCCTGGTTCT... | TATGAATGTTGCTTTTCCACCTCCACAGAAAACAAAATTAAAGTACTTTAATTCACACTAGCAGGTGGGTTTGGCCCCAGGTACCCTGACATTGGCCTGGTCTTTCTAATCAACTTGAGTGTTTCTGCCCCAGACATAAAAATCCCCTTGGGTTGAGGCAGTAGAGCTCTACTGGGGAACCAGACATACATTTTGTTAATGAAGGCCTATCCTTCTCAAAGCACATTTGGTGGAATCGGGTCTTTATGGATACGGTTTCTTCACCGACTATTTCTCCCTCAAACTCTTGGCCTCTGCTTTTTCTCTTGTAGCCTGGTTCT... |
Task1_train_21523 | A variant has been detected on Chromosome 15 in CYP19A1, MIR4713HG, PIRC66 (cytochrome P450 family 19 subfamily A member 1| MIR4713 host gene| piwi-interacting RNA cluster 66). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Aromatase deficiency | TATGAATGTTGCTTTTCCACCTCCACAGAAAACAAAATTAAAGTACTTTAATTCACACTAGCAGGTGGGTTTGGCCCCAGGTACCCTGACATTGGCCTGGTCTTTCTAATCAACTTGAGTGTTTCTGCCCCAGACATAAAAATCCCCTTGGGTTGAGGCAGTAGAGCTCTACTGGGGAACCAGACATACATTTTGTTAATGAAGGCCTATCCTTCTCAAAGCACATTTGGTGGAATCGGGTCTTTATGGATACGGTTTCTTCACCGACTATTTCTCCCTCAAACTCTTGGCCTCTGCTTTTTCTCTTGTAGCCTGGTTCT... | TATGAATGTTGCTTTTCCACCTCCACAGAAAACAAAATTAAAGTACTTTAATTCACACTAGCAGGTGGGTTTGGCCCCAGGTACCCTGACATTGGCCTGGTCTTTCTAATCAACTTGAGTGTTTCTGCCCCAGACATAAAAATCCCCTTGGGTTGAGGCAGTAGAGCTCTACTGGGGAACCAGACATACATTTTGTTAATGAAGGCCTATCCTTCTCAAAGCACATTTGGTGGAATCGGGTCTTTATGGATACGGTTTCTTCACCGACTATTTCTCCCTCAAACTCTTGGCCTCTGCTTTTTCTCTTGTAGCCTGGTTCT... |
Task1_train_21524 | Consider this mutation in CYP19A1, MIR4713HG, PIRC66 (cytochrome P450 family 19 subfamily A member 1| MIR4713 host gene| piwi-interacting RNA cluster 66) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Aromatase deficiency | TATGAATGTTGCTTTTCCACCTCCACAGAAAACAAAATTAAAGTACTTTAATTCACACTAGCAGGTGGGTTTGGCCCCAGGTACCCTGACATTGGCCTGGTCTTTCTAATCAACTTGAGTGTTTCTGCCCCAGACATAAAAATCCCCTTGGGTTGAGGCAGTAGAGCTCTACTGGGGAACCAGACATACATTTTGTTAATGAAGGCCTATCCTTCTCAAAGCACATTTGGTGGAATCGGGTCTTTATGGATACGGTTTCTTCACCGACTATTTCTCCCTCAAACTCTTGGCCTCTGCTTTTTCTCTTGTAGCCTGGTTCT... | TATGAATGTTGCTTTTCCACCTCCACAGAAAACAAAATTAAAGTACTTTAATTCACACTAGCAGGTGGGTTTGGCCCCAGGTACCCTGACATTGGCCTGGTCTTTCTAATCAACTTGAGTGTTTCTGCCCCAGACATAAAAATCCCCTTGGGTTGAGGCAGTAGAGCTCTACTGGGGAACCAGACATACATTTTGTTAATGAAGGCCTATCCTTCTCAAAGCACATTTGGTGGAATCGGGTCTTTATGGATACGGTTTCTTCACCGACTATTTCTCCCTCAAACTCTTGGCCTCTGCTTTTTCTCTTGTAGCCTGGTTCT... |
Task1_train_21525 | This variant lies on Chromosome 15 and affects the gene CYP19A1, MIR4713HG, PIRC66 (cytochrome P450 family 19 subfamily A member 1| MIR4713 host gene| piwi-interacting RNA cluster 66). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Aromatase deficiency | TCAACTTGAGTGTTTCTGCCCCAGACATAAAAATCCCCTTGGGTTGAGGCAGTAGAGCTCTACTGGGGAACCAGACATACATTTTGTTAATGAAGGCCTATCCTTCTCAAAGCACATTTGGTGGAATCGGGTCTTTATGGATACGGTTTCTTCACCGACTATTTCTCCCTCAAACTCTTGGCCTCTGCTTTTTCTCTTGTAGCCTGGTTCTCTGGTGTGAACAGGAGCAGATGACAAATAGCACCTAGCTTGGTGACAACCCATAGGAGGTATGCCTATAAAATGCCATGGGCCACTGAGTGTTCACTGTGAGGATGACA... | TCAACTTGAGTGTTTCTGCCCCAGACATAAAAATCCCCTTGGGTTGAGGCAGTAGAGCTCTACTGGGGAACCAGACATACATTTTGTTAATGAAGGCCTATCCTTCTCAAAGCACATTTGGTGGAATCGGGTCTTTATGGATACGGTTTCTTCACCGACTATTTCTCCCTCAAACTCTTGGCCTCTGCTTTTTCTCTTGTAGCCTGGTTCTCTGGTGTGAACAGGAGCAGATGACAAATAGCACCTAGCTTGGTGACAACCCATAGGAGGTATGCCTATAAAATGCCATGGGCCACTGAGTGTTCACTGTGAGGATGACA... |
Task1_train_21526 | This sequence change occurs on Chromosome 15, altering CYP19A1, MIR4713HG, PIRC66 (cytochrome P450 family 19 subfamily A member 1| MIR4713 host gene| piwi-interacting RNA cluster 66). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Aromatase deficiency | CATTTTGCCTTCAAGGCACTTATTATTGCCTAATATTTTATTAGATATCTATGTCTTTTCCTGTCCACATCACTCACTGGAATGTAAGCCCCTTGAAGGCAAGAATTTTATCTGTCTTGCTTACTGTTATGTCCCCAGAACCTAGAACAGTGCCTGGCATAAAATAAGCAATCAATAAATGTTTGATGAATGAATGTATGAATCAATGAACACTGGTGTAAGTTAATTCAGGAAAAGTCACATTGAGTTGTACATACTTAATGCCAACAGTAGAATGGAATTAATCCAAATGATTAATTTTCTATTGATACATAATGGAT... | CATTTTGCCTTCAAGGCACTTATTATTGCCTAATATTTTATTAGATATCTATGTCTTTTCCTGTCCACATCACTCACTGGAATGTAAGCCCCTTGAAGGCAAGAATTTTATCTGTCTTGCTTACTGTTATGTCCCCAGAACCTAGAACAGTGCCTGGCATAAAATAAGCAATCAATAAATGTTTGATGAATGAATGTATGAATCAATGAACACTGGTGTAAGTTAATTCAGGAAAAGTCACATTGAGTTGTACATACTTAATGCCAACAGTAGAATGGAATTAATCCAAATGATTAATTTTCTATTGATACATAATGGAT... |
Task1_train_21527 | A sequence alteration has been identified in CYP19A1, MIR4713HG, PIRC66 (cytochrome P450 family 19 subfamily A member 1| MIR4713 host gene| piwi-interacting RNA cluster 66) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Aromatase excess syndrome | CATTTTGCCTTCAAGGCACTTATTATTGCCTAATATTTTATTAGATATCTATGTCTTTTCCTGTCCACATCACTCACTGGAATGTAAGCCCCTTGAAGGCAAGAATTTTATCTGTCTTGCTTACTGTTATGTCCCCAGAACCTAGAACAGTGCCTGGCATAAAATAAGCAATCAATAAATGTTTGATGAATGAATGTATGAATCAATGAACACTGGTGTAAGTTAATTCAGGAAAAGTCACATTGAGTTGTACATACTTAATGCCAACAGTAGAATGGAATTAATCCAAATGATTAATTTTCTATTGATACATAATGGAT... | CATTTTGCCTTCAAGGCACTTATTATTGCCTAATATTTTATTAGATATCTATGTCTTTTCCTGTCCACATCACTCACTGGAATGTAAGCCCCTTGAAGGCAAGAATTTTATCTGTCTTGCTTACTGTTATGTCCCCAGAACCTAGAACAGTGCCTGGCATAAAATAAGCAATCAATAAATGTTTGATGAATGAATGTATGAATCAATGAACACTGGTGTAAGTTAATTCAGGAAAAGTCACATTGAGTTGTACATACTTAATGCCAACAGTAGAATGGAATTAATCCAAATGATTAATTTTCTATTGATACATAATGGAT... |
Task1_train_21528 | A sequence alteration has been identified in GLDN (gliomedin) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Lethal congenital contracture syndrome 11 | TGAGTCCTTCTAGCTCTTCCACTATCTGAAACAGTAAACCCAGTATTATGAATGCCACAGTCCTACTCATTCAAAACAAGAGACAGTGACTTTGAGGGAGGACTGGGTCCCTTCCCTCTCCCTCATCCTTCTCCTACCCTTAGTGAGGTCCAGCTTTAACAACCTTTGGCATTTGAATGCTCAGGTTAGAATGGGGCGAGTTTCCTAGTGTAATATGCGATATGATCAGACACATCGGACACTGGCGTCAGCCGCGGCAGGAAGCATCCCCTCCTTTGCCTCTCACTCCCATCTACATGACACCCCCATCATCATCTCTA... | TGAGTCCTTCTAGCTCTTCCACTATCTGAAACAGTAAACCCAGTATTATGAATGCCACAGTCCTACTCATTCAAAACAAGAGACAGTGACTTTGAGGGAGGACTGGGTCCCTTCCCTCTCCCTCATCCTTCTCCTACCCTTAGTGAGGTCCAGCTTTAACAACCTTTGGCATTTGAATGCTCAGGTTAGAATGGGGCGAGTTTCCTAGTGTAATATGCGATATGATCAGACACATCGGACACTGGCGTCAGCCGCGGCAGGAAGCATCCCCTCCTTTGCCTCTCACTCCCATCTACATGACACCCCCATCATCATCTCTA... |
Task1_train_21529 | Here’s a variant in DMXL2 (Dmx like 2) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Developmental and epileptic encephalopathy, 81 | ATTTTTCTTAATCTAAGTGAACATTAGTTCAGAAAGTATCTCTTCCTTTAAAAAAGAAAAAAAAGAAATCCACAAAACGTCCTACCTTGATGTTCATCATCCTCCTTTGGTGTTTGTTCCAGTAATGTGTCCAAGGCTCGGGTGTAATCTTTCATTACCCAATAGGCAAGACTACGCAGGAAAGGATCAGGATGTAATCTTTTGCAACTGAATCCTGAGCCATCCTTTTGGCAACCCAAAATCTTCTGATTTAGGATGGATATATAAGTGGATGAAGTCTCAAATTCAGATTCATATAAACGGGCAATAACCATGGCTAG... | ATTTTTCTTAATCTAAGTGAACATTAGTTCAGAAAGTATCTCTTCCTTTAAAAAAGAAAAAAAAGAAATCCACAAAACGTCCTACCTTGATGTTCATCATCCTCCTTTGGTGTTTGTTCCAGTAATGTGTCCAAGGCTCGGGTGTAATCTTTCATTACCCAATAGGCAAGACTACGCAGGAAAGGATCAGGATGTAATCTTTTGCAACTGAATCCTGAGCCATCCTTTTGGCAACCCAAAATCTTCTGATTTAGGATGGATATATAAGTGGATGAAGTCTCAAATTCAGATTCATATAAACGGGCAATAACCATGGCTAG... |
Task1_train_21530 | Chromosome 15 houses a mutation in gene DMXL2 (Dmx like 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hearing loss, autosomal dominant 71 | ACATTAACCATCATTTTAAATTAGACTGACAAGACTGATCTAATACTGGCTATTTTCTCCTAGAAACAAAACATATAACTTAAGAATATATACAATTATATAGAACTAACAGTAAGGAGTTCCATAGGAAAGGATAGGATGTCAGAAAGCCAAGTGGCTCGTAAGTCAGACAATTACGTTTTTTCTTTTAAAAACTATCTTAACATATTAATTAATAATATTAATAAAAGACAGTAAAAACTTGTCAAATCACTGGTTACATATTTACTTATATTTCTGTTCTATTTTACATGGCAATAATTCAATTTAACAAACACTTG... | ACATTAACCATCATTTTAAATTAGACTGACAAGACTGATCTAATACTGGCTATTTTCTCCTAGAAACAAAACATATAACTTAAGAATATATACAATTATATAGAACTAACAGTAAGGAGTTCCATAGGAAAGGATAGGATGTCAGAAAGCCAAGTGGCTCGTAAGTCAGACAATTACGTTTTTTCTTTTAAAAACTATCTTAACATATTAATTAATAATATTAATAAAAGACAGTAAAAACTTGTCAAATCACTGGTTACATATTTACTTATATTTCTGTTCTATTTTACATGGCAATAATTCAATTTAACAAACACTTG... |
Task1_train_21531 | Gene GNB5 (G protein subunit beta 5) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Gnb5-related intellectual disability-cardiac arrhythmia syndrome | GAATTCTACTGGTGACAGAATGAGTTGAGGCTACTATAATTTAGAATAACCTTAAAAACAGATACATTTTAAAAAGTGTTCCAAAAGAAAAATACTGTACTTGAAGGTATTCTCGCAGTGCTGAAGGCTCACACTAGTGTATTTCCAGAGGTGACAGTTTTAATAGTCATATTGGAGACGCTTAGTGACCTGTGAGCCATGGGTTGCTCCCCTAAGCTACACTGCAATAAACTCTAAGCTCCTCTAGAAGTAATATCTATTTACATGTGAAGATTTCAAATTCTCAGGTATACATGAGTGCACTGTCAGAAGATGATTAG... | GAATTCTACTGGTGACAGAATGAGTTGAGGCTACTATAATTTAGAATAACCTTAAAAACAGATACATTTTAAAAAGTGTTCCAAAAGAAAAATACTGTACTTGAAGGTATTCTCGCAGTGCTGAAGGCTCACACTAGTGTATTTCCAGAGGTGACAGTTTTAATAGTCATATTGGAGACGCTTAGTGACCTGTGAGCCATGGGTTGCTCCCCTAAGCTACACTGCAATAAACTCTAAGCTCCTCTAGAAGTAATATCTATTTACATGTGAAGATTTCAAATTCTCAGGTATACATGAGTGCACTGTCAGAAGATGATTAG... |
Task1_train_21532 | A genetic alteration is present in GNB5 (G protein subunit beta 5) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Gnb5-related intellectual disability-cardiac arrhythmia syndrome | AAGTCAAGGCTGAAGTGAGCTGCACTCCAGCCTGGGTAACAGAGTGAGACCCCATCTCAAGAAAAGAAAAAAGAAAAAGAAAAAAATAATAATGGTTGTGACAGGATGGTGGGAGTAAAAGGTTTTTATTTGTTTGTTTCTTTAATGTGGTAGAATACATAAGTGATAAATTTATTTTGATCTTAAAAAAAAAGCAAGTGCAATGTGACATACTAGATTTGTAGGTAATCTAGGAGAGTAATAACATTTGTCCTATCAAACGCAAAACTGACACAGACGTTACAGTTTGTGGATTATCTAGAGTATATCCAGTTTCACAA... | AAGTCAAGGCTGAAGTGAGCTGCACTCCAGCCTGGGTAACAGAGTGAGACCCCATCTCAAGAAAAGAAAAAAGAAAAAGAAAAAAATAATAATGGTTGTGACAGGATGGTGGGAGTAAAAGGTTTTTATTTGTTTGTTTCTTTAATGTGGTAGAATACATAAGTGATAAATTTATTTTGATCTTAAAAAAAAAGCAAGTGCAATGTGACATACTAGATTTGTAGGTAATCTAGGAGAGTAATAACATTTGTCCTATCAAACGCAAAACTGACACAGACGTTACAGTTTGTGGATTATCTAGAGTATATCCAGTTTCACAA... |
Task1_train_21533 | A variant found in Chromosome 15 affects GNB5 (G protein subunit beta 5). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Inborn genetic diseases | AAGTCAAGGCTGAAGTGAGCTGCACTCCAGCCTGGGTAACAGAGTGAGACCCCATCTCAAGAAAAGAAAAAAGAAAAAGAAAAAAATAATAATGGTTGTGACAGGATGGTGGGAGTAAAAGGTTTTTATTTGTTTGTTTCTTTAATGTGGTAGAATACATAAGTGATAAATTTATTTTGATCTTAAAAAAAAAGCAAGTGCAATGTGACATACTAGATTTGTAGGTAATCTAGGAGAGTAATAACATTTGTCCTATCAAACGCAAAACTGACACAGACGTTACAGTTTGTGGATTATCTAGAGTATATCCAGTTTCACAA... | AAGTCAAGGCTGAAGTGAGCTGCACTCCAGCCTGGGTAACAGAGTGAGACCCCATCTCAAGAAAAGAAAAAAGAAAAAGAAAAAAATAATAATGGTTGTGACAGGATGGTGGGAGTAAAAGGTTTTTATTTGTTTGTTTCTTTAATGTGGTAGAATACATAAGTGATAAATTTATTTTGATCTTAAAAAAAAAGCAAGTGCAATGTGACATACTAGATTTGTAGGTAATCTAGGAGAGTAATAACATTTGTCCTATCAAACGCAAAACTGACACAGACGTTACAGTTTGTGGATTATCTAGAGTATATCCAGTTTCACAA... |
Task1_train_21534 | This sequence change occurs on Chromosome 15, altering MYO5A (myosin VA). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cerebellar cortical atrophy | CAGCCTCCCCAACACATGATGCTCACAACTTGCTGCACTTTTTTTTTTTTTTTTTTGCCGCCAGCAGCAGTGGCAAGAATAGGGGAGGTAAATATAATAAAAGTGAGAATAATAGCAATGTTAGCTTGTGAAGCTGGAGAGGCTGGTGGGAAGCTGTGCATCTTCCTTCGCTGAAAGACAGCACGGGGGAGGCCTGTGAAGCCTGTTCACTAGATGAGGTAGAAAAATCATTTTTGTGTTTTGTGTTGGTGGTAGGTAGGTGGGCAAGGTAGAGTTTCAAGAGCACTAAGCCCAGGTCTCCTGCTGGGCTTTAATATCCT... | CAGCCTCCCCAACACATGATGCTCACAACTTGCTGCACTTTTTTTTTTTTTTTTTTGCCGCCAGCAGCAGTGGCAAGAATAGGGGAGGTAAATATAATAAAAGTGAGAATAATAGCAATGTTAGCTTGTGAAGCTGGAGAGGCTGGTGGGAAGCTGTGCATCTTCCTTCGCTGAAAGACAGCACGGGGGAGGCCTGTGAAGCCTGTTCACTAGATGAGGTAGAAAAATCATTTTTGTGTTTTGTGTTGGTGGTAGGTAGGTGGGCAAGGTAGAGTTTCAAGAGCACTAAGCCCAGGTCTCCTGCTGGGCTTTAATATCCT... |
Task1_train_21535 | A mutation in MYO5A (myosin VA), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Dystonic disorder | CAGCCTCCCCAACACATGATGCTCACAACTTGCTGCACTTTTTTTTTTTTTTTTTTGCCGCCAGCAGCAGTGGCAAGAATAGGGGAGGTAAATATAATAAAAGTGAGAATAATAGCAATGTTAGCTTGTGAAGCTGGAGAGGCTGGTGGGAAGCTGTGCATCTTCCTTCGCTGAAAGACAGCACGGGGGAGGCCTGTGAAGCCTGTTCACTAGATGAGGTAGAAAAATCATTTTTGTGTTTTGTGTTGGTGGTAGGTAGGTGGGCAAGGTAGAGTTTCAAGAGCACTAAGCCCAGGTCTCCTGCTGGGCTTTAATATCCT... | CAGCCTCCCCAACACATGATGCTCACAACTTGCTGCACTTTTTTTTTTTTTTTTTTGCCGCCAGCAGCAGTGGCAAGAATAGGGGAGGTAAATATAATAAAAGTGAGAATAATAGCAATGTTAGCTTGTGAAGCTGGAGAGGCTGGTGGGAAGCTGTGCATCTTCCTTCGCTGAAAGACAGCACGGGGGAGGCCTGTGAAGCCTGTTCACTAGATGAGGTAGAAAAATCATTTTTGTGTTTTGTGTTGGTGGTAGGTAGGTGGGCAAGGTAGAGTTTCAAGAGCACTAAGCCCAGGTCTCCTGCTGGGCTTTAATATCCT... |
Task1_train_21536 | This variant lies on Chromosome 15 and affects the gene MYO5A (myosin VA). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Seizure | CAGCCTCCCCAACACATGATGCTCACAACTTGCTGCACTTTTTTTTTTTTTTTTTTGCCGCCAGCAGCAGTGGCAAGAATAGGGGAGGTAAATATAATAAAAGTGAGAATAATAGCAATGTTAGCTTGTGAAGCTGGAGAGGCTGGTGGGAAGCTGTGCATCTTCCTTCGCTGAAAGACAGCACGGGGGAGGCCTGTGAAGCCTGTTCACTAGATGAGGTAGAAAAATCATTTTTGTGTTTTGTGTTGGTGGTAGGTAGGTGGGCAAGGTAGAGTTTCAAGAGCACTAAGCCCAGGTCTCCTGCTGGGCTTTAATATCCT... | CAGCCTCCCCAACACATGATGCTCACAACTTGCTGCACTTTTTTTTTTTTTTTTTTGCCGCCAGCAGCAGTGGCAAGAATAGGGGAGGTAAATATAATAAAAGTGAGAATAATAGCAATGTTAGCTTGTGAAGCTGGAGAGGCTGGTGGGAAGCTGTGCATCTTCCTTCGCTGAAAGACAGCACGGGGGAGGCCTGTGAAGCCTGTTCACTAGATGAGGTAGAAAAATCATTTTTGTGTTTTGTGTTGGTGGTAGGTAGGTGGGCAAGGTAGAGTTTCAAGAGCACTAAGCCCAGGTCTCCTGCTGGGCTTTAATATCCT... |
Task1_train_21537 | Here’s a variant in MYO5A (myosin VA) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Global developmental delay | CAGCCTCCCCAACACATGATGCTCACAACTTGCTGCACTTTTTTTTTTTTTTTTTTGCCGCCAGCAGCAGTGGCAAGAATAGGGGAGGTAAATATAATAAAAGTGAGAATAATAGCAATGTTAGCTTGTGAAGCTGGAGAGGCTGGTGGGAAGCTGTGCATCTTCCTTCGCTGAAAGACAGCACGGGGGAGGCCTGTGAAGCCTGTTCACTAGATGAGGTAGAAAAATCATTTTTGTGTTTTGTGTTGGTGGTAGGTAGGTGGGCAAGGTAGAGTTTCAAGAGCACTAAGCCCAGGTCTCCTGCTGGGCTTTAATATCCT... | CAGCCTCCCCAACACATGATGCTCACAACTTGCTGCACTTTTTTTTTTTTTTTTTTGCCGCCAGCAGCAGTGGCAAGAATAGGGGAGGTAAATATAATAAAAGTGAGAATAATAGCAATGTTAGCTTGTGAAGCTGGAGAGGCTGGTGGGAAGCTGTGCATCTTCCTTCGCTGAAAGACAGCACGGGGGAGGCCTGTGAAGCCTGTTCACTAGATGAGGTAGAAAAATCATTTTTGTGTTTTGTGTTGGTGGTAGGTAGGTGGGCAAGGTAGAGTTTCAAGAGCACTAAGCCCAGGTCTCCTGCTGGGCTTTAATATCCT... |
Task1_train_21538 | A mutation found in MYO5A (myosin VA) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Nystagmus | CAGCCTCCCCAACACATGATGCTCACAACTTGCTGCACTTTTTTTTTTTTTTTTTTGCCGCCAGCAGCAGTGGCAAGAATAGGGGAGGTAAATATAATAAAAGTGAGAATAATAGCAATGTTAGCTTGTGAAGCTGGAGAGGCTGGTGGGAAGCTGTGCATCTTCCTTCGCTGAAAGACAGCACGGGGGAGGCCTGTGAAGCCTGTTCACTAGATGAGGTAGAAAAATCATTTTTGTGTTTTGTGTTGGTGGTAGGTAGGTGGGCAAGGTAGAGTTTCAAGAGCACTAAGCCCAGGTCTCCTGCTGGGCTTTAATATCCT... | CAGCCTCCCCAACACATGATGCTCACAACTTGCTGCACTTTTTTTTTTTTTTTTTTGCCGCCAGCAGCAGTGGCAAGAATAGGGGAGGTAAATATAATAAAAGTGAGAATAATAGCAATGTTAGCTTGTGAAGCTGGAGAGGCTGGTGGGAAGCTGTGCATCTTCCTTCGCTGAAAGACAGCACGGGGGAGGCCTGTGAAGCCTGTTCACTAGATGAGGTAGAAAAATCATTTTTGTGTTTTGTGTTGGTGGTAGGTAGGTGGGCAAGGTAGAGTTTCAAGAGCACTAAGCCCAGGTCTCCTGCTGGGCTTTAATATCCT... |
Task1_train_21539 | A mutation on Chromosome 15 affecting WDR72 (WD repeat domain 72) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Renal tubular acidosis, distal, 4, with hemolytic anemia | AGATCATATCTGTGCCAGTAACTCTCTTACCATTTCGTAAGCAACTGTAGAAGCTTGACATATTTAAAATGTCATTCCCAGCACCTCTCATCTTATTATGTATACTTTCCATTCTGAAAGAACTGTTAGAAAAAAGATTGACAGCATATTACTAAAAAGCATGAAAAATTATTTGAGGAAATAAATCAAAGATATGGGTACATGACCACTTTAGCAAATTTGGAAATTGAATACAAATTATTTTTAGCAATATCTTTCACATCAATTTCTCTTGTGAATCTGATTTCCTCACTTTGCTCCCACCTAAAATCTTATTTATT... | AGATCATATCTGTGCCAGTAACTCTCTTACCATTTCGTAAGCAACTGTAGAAGCTTGACATATTTAAAATGTCATTCCCAGCACCTCTCATCTTATTATGTATACTTTCCATTCTGAAAGAACTGTTAGAAAAAAGATTGACAGCATATTACTAAAAAGCATGAAAAATTATTTGAGGAAATAAATCAAAGATATGGGTACATGACCACTTTAGCAAATTTGGAAATTGAATACAAATTATTTTTAGCAATATCTTTCACATCAATTTCTCTTGTGAATCTGATTTCCTCACTTTGCTCCCACCTAAAATCTTATTTATT... |
Task1_train_21540 | Assess the clinical impact of this variant on gene RAB27A (RAB27A, member RAS oncogene family), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Griscelli syndrome type 2 | CACCCACACCAGCCAGGTCAGAGGCAACAGGAAGTGACATGGGTTTTAGTCCCTCATTATGGGCACCAGCTGGTTCTCACTTTTTCCATCCATCCCCCATTTCACATCCTTCTCCCCTTCCTGTCTGACTGTCCTGTCCTTCAGGCTTCAGCATCAGACACAAAGACAACACCTTACAGAGACTACTTACCCAGCTCCCACAATTGCATATGCTCAAATTCCTGTAACAGATCCCTTCATGTATAGGTATGCTTCTTCAAGTGAACCCTGCCTGAGAAACTCCTCCAAACCAATTATGTCTGATGGTCAGAGGTGAAGCC... | CACCCACACCAGCCAGGTCAGAGGCAACAGGAAGTGACATGGGTTTTAGTCCCTCATTATGGGCACCAGCTGGTTCTCACTTTTTCCATCCATCCCCCATTTCACATCCTTCTCCCCTTCCTGTCTGACTGTCCTGTCCTTCAGGCTTCAGCATCAGACACAAAGACAACACCTTACAGAGACTACTTACCCAGCTCCCACAATTGCATATGCTCAAATTCCTGTAACAGATCCCTTCATGTATAGGTATGCTTCTTCAAGTGAACCCTGCCTGAGAAACTCCTCCAAACCAATTATGTCTGATGGTCAGAGGTGAAGCC... |
Task1_train_21541 | A variant was discovered in gene RAB27A (RAB27A, member RAS oncogene family), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Griscelli syndrome type 2 | CATTATGGGCACCAGCTGGTTCTCACTTTTTCCATCCATCCCCCATTTCACATCCTTCTCCCCTTCCTGTCTGACTGTCCTGTCCTTCAGGCTTCAGCATCAGACACAAAGACAACACCTTACAGAGACTACTTACCCAGCTCCCACAATTGCATATGCTCAAATTCCTGTAACAGATCCCTTCATGTATAGGTATGCTTCTTCAAGTGAACCCTGCCTGAGAAACTCCTCCAAACCAATTATGTCTGATGGTCAGAGGTGAAGCCCAGACATGAGAATGTGTTAAAAGTTCTCTGGATGTTTCTAACATGGTTAAACAC... | CATTATGGGCACCAGCTGGTTCTCACTTTTTCCATCCATCCCCCATTTCACATCCTTCTCCCCTTCCTGTCTGACTGTCCTGTCCTTCAGGCTTCAGCATCAGACACAAAGACAACACCTTACAGAGACTACTTACCCAGCTCCCACAATTGCATATGCTCAAATTCCTGTAACAGATCCCTTCATGTATAGGTATGCTTCTTCAAGTGAACCCTGCCTGAGAAACTCCTCCAAACCAATTATGTCTGATGGTCAGAGGTGAAGCCCAGACATGAGAATGTGTTAAAAGTTCTCTGGATGTTTCTAACATGGTTAAACAC... |
Task1_train_21542 | A variant was discovered on Chromosome 15, affecting RAB27A (RAB27A, member RAS oncogene family). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Griscelli syndrome type 2 | CCAGCTGGTTCTCACTTTTTCCATCCATCCCCCATTTCACATCCTTCTCCCCTTCCTGTCTGACTGTCCTGTCCTTCAGGCTTCAGCATCAGACACAAAGACAACACCTTACAGAGACTACTTACCCAGCTCCCACAATTGCATATGCTCAAATTCCTGTAACAGATCCCTTCATGTATAGGTATGCTTCTTCAAGTGAACCCTGCCTGAGAAACTCCTCCAAACCAATTATGTCTGATGGTCAGAGGTGAAGCCCAGACATGAGAATGTGTTAAAAGTTCTCTGGATGTTTCTAACATGGTTAAACACCATCTGCCCTA... | CCAGCTGGTTCTCACTTTTTCCATCCATCCCCCATTTCACATCCTTCTCCCCTTCCTGTCTGACTGTCCTGTCCTTCAGGCTTCAGCATCAGACACAAAGACAACACCTTACAGAGACTACTTACCCAGCTCCCACAATTGCATATGCTCAAATTCCTGTAACAGATCCCTTCATGTATAGGTATGCTTCTTCAAGTGAACCCTGCCTGAGAAACTCCTCCAAACCAATTATGTCTGATGGTCAGAGGTGAAGCCCAGACATGAGAATGTGTTAAAAGTTCTCTGGATGTTTCTAACATGGTTAAACACCATCTGCCCTA... |
Task1_train_21543 | A genomic change on Chromosome 15 affects RAB27A (RAB27A, member RAS oncogene family). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Griscelli syndrome type 2 | ACACATAAAGTGCTGCCTTGCACCTGGAGCACAGGAAGTACTCAACAAATCAAAGTTATCAGTACCAGGGAGAAGCAGAGTATTTCAATTATCTTTGTCCCTAAACTAAAAACCTTGCTCCTTAAAATAGTATTTGCACTAAGATCTCCTCCAAAACGATTTGTCACAGAAGTAGAGCATAAGAGGGCATTCTATAAATAAGAGGGGACTGTGTAGCAGGACACTGGGGAACAATAACACTTACTTATCCAGTTTCTGACATTGAGGAAACTTTGCTCATTTGTCAGATCAAAAAGTAGAAGAAAACCCATAGCATCTCT... | ACACATAAAGTGCTGCCTTGCACCTGGAGCACAGGAAGTACTCAACAAATCAAAGTTATCAGTACCAGGGAGAAGCAGAGTATTTCAATTATCTTTGTCCCTAAACTAAAAACCTTGCTCCTTAAAATAGTATTTGCACTAAGATCTCCTCCAAAACGATTTGTCACAGAAGTAGAGCATAAGAGGGCATTCTATAAATAAGAGGGGACTGTGTAGCAGGACACTGGGGAACAATAACACTTACTTATCCAGTTTCTGACATTGAGGAAACTTTGCTCATTTGTCAGATCAAAAAGTAGAAGAAAACCCATAGCATCTCT... |
Task1_train_21544 | A variant has been detected on Chromosome 15 in RAB27A (RAB27A, member RAS oncogene family). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Griscelli syndrome type 2 | TGCTGCCTTGCACCTGGAGCACAGGAAGTACTCAACAAATCAAAGTTATCAGTACCAGGGAGAAGCAGAGTATTTCAATTATCTTTGTCCCTAAACTAAAAACCTTGCTCCTTAAAATAGTATTTGCACTAAGATCTCCTCCAAAACGATTTGTCACAGAAGTAGAGCATAAGAGGGCATTCTATAAATAAGAGGGGACTGTGTAGCAGGACACTGGGGAACAATAACACTTACTTATCCAGTTTCTGACATTGAGGAAACTTTGCTCATTTGTCAGATCAAAAAGTAGAAGAAAACCCATAGCATCTCTGAAGAACGCT... | TGCTGCCTTGCACCTGGAGCACAGGAAGTACTCAACAAATCAAAGTTATCAGTACCAGGGAGAAGCAGAGTATTTCAATTATCTTTGTCCCTAAACTAAAAACCTTGCTCCTTAAAATAGTATTTGCACTAAGATCTCCTCCAAAACGATTTGTCACAGAAGTAGAGCATAAGAGGGCATTCTATAAATAAGAGGGGACTGTGTAGCAGGACACTGGGGAACAATAACACTTACTTATCCAGTTTCTGACATTGAGGAAACTTTGCTCATTTGTCAGATCAAAAAGTAGAAGAAAACCCATAGCATCTCTGAAGAACGCT... |
Task1_train_21545 | Here is a mutation in RAB27A (RAB27A, member RAS oncogene family) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Griscelli syndrome type 2 | AAATGTAACTGCATAGTAAATATAAAAAACAGTATAAACGTGGTTTTTCTTTGTAGCCCTTTTCCTCCACTAGATTAAAATTTAACTGCAGGCTGGGAGTGATAGCTCATGCCTGTAATCCCTCAGCACTTTGGGAGGCTAAGATGGGTGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATTACTACTAAAAATATAAACAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAATCCTAGCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCTGGGAGACAGAGGTTGCGGTG... | AAATGTAACTGCATAGTAAATATAAAAAACAGTATAAACGTGGTTTTTCTTTGTAGCCCTTTTCCTCCACTAGATTAAAATTTAACTGCAGGCTGGGAGTGATAGCTCATGCCTGTAATCCCTCAGCACTTTGGGAGGCTAAGATGGGTGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATTACTACTAAAAATATAAACAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAATCCTAGCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCTGGGAGACAGAGGTTGCGGTG... |
Task1_train_21546 | Given a variant located on Chromosome 15 and affecting PIGB (phosphatidylinositol glycan anchor biosynthesis class B), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Developmental and epileptic encephalopathy, 80 | TTTTTGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCCTCTGACCTCCTGATCCGCCCGTCTTGGCCTCCCAAAGTACTGGGAATACAGGCGTGAGCCACCGCGCCCGGCCTGGTTTTACTTTTAACAAGAGGAGTGGGCCGCACGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCCAGACCAGCCAGGCCAATATGGTGAAACCCCGTCTCTACAAAAAAACACAAAAATTGGCCAGGCGTGGTGGCGCGCCTGTAGTCCCAGCTACTT... | TTTTTGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCCTCTGACCTCCTGATCCGCCCGTCTTGGCCTCCCAAAGTACTGGGAATACAGGCGTGAGCCACCGCGCCCGGCCTGGTTTTACTTTTAACAAGAGGAGTGGGCCGCACGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCCAGACCAGCCAGGCCAATATGGTGAAACCCCGTCTCTACAAAAAAACACAAAAATTGGCCAGGCGTGGTGGCGCGCCTGTAGTCCCAGCTACTT... |
Task1_train_21547 | An alteration has been detected in PIGB (phosphatidylinositol glycan anchor biosynthesis class B) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Developmental and epileptic encephalopathy, 80 | AGGTCAAGGCTGCAGTGAGCCATGATCACACACTACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCTAAAAAAAAGAAAAGAATACATAAATAAAAAGATTATGGCTTCCATCTTGGGTGCCTGTCTCACTCACTCTTGGCTGACTTACCCTGGGTTAAGCCAGTTAATTATGTCATGAGGCAGCTTTAAGGAAACGGCCATATGTTGAGGAACTTAGCCCCACCAGCAACCATGTGAGCAAATTTGGAAGCTGATCTCTCCACCTGTAATTGAACCTTCAGATGAAACTGTAGCCCCTGCTAAGAGCTTGA... | AGGTCAAGGCTGCAGTGAGCCATGATCACACACTACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCTAAAAAAAAGAAAAGAATACATAAATAAAAAGATTATGGCTTCCATCTTGGGTGCCTGTCTCACTCACTCTTGGCTGACTTACCCTGGGTTAAGCCAGTTAATTATGTCATGAGGCAGCTTTAAGGAAACGGCCATATGTTGAGGAACTTAGCCCCACCAGCAACCATGTGAGCAAATTTGGAAGCTGATCTCTCCACCTGTAATTGAACCTTCAGATGAAACTGTAGCCCCTGCTAAGAGCTTGA... |
Task1_train_21548 | The following genetic variant occurs in PIGB (phosphatidylinositol glycan anchor biosynthesis class B) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Developmental and epileptic encephalopathy, 80 | GCCTGAAGCCCTCACCAGTGGATGCTTCTTGTACAACCTGCAGGACCATGAGCCAAGTAAATATAAATTAGCCAGTCTCAGGTATTCCAGTATAGCAGTACAAACAAAGACAAGGCTTTAATGTAGCTTTTTGTATTTGAGCCTACTAAAATAGATGTTGTTTTAGCCTACCAACCTAAGTTAAGTGCTTCAACTTATATTTGGGGATCTGCTGTGTCTGTGATTGGGGTTATTACAGATGGTTGAACTTTTAGAATCCTATTTTTTAATTTATTTTGAGACAGTTTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGT... | GCCTGAAGCCCTCACCAGTGGATGCTTCTTGTACAACCTGCAGGACCATGAGCCAAGTAAATATAAATTAGCCAGTCTCAGGTATTCCAGTATAGCAGTACAAACAAAGACAAGGCTTTAATGTAGCTTTTTGTATTTGAGCCTACTAAAATAGATGTTGTTTTAGCCTACCAACCTAAGTTAAGTGCTTCAACTTATATTTGGGGATCTGCTGTGTCTGTGATTGGGGTTATTACAGATGGTTGAACTTTTAGAATCCTATTTTTTAATTTATTTTGAGACAGTTTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGT... |
Task1_train_21549 | This mutation occurs in RFX7 (regulatory factor X7) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | CATTTGCTTGTTTTGTGTGTGCGTGCCTGCGCATCTATGTGTGCTAGCTCCATATTAAAATCAACATTTAAATATTAATGCAAGGTCACAAATATAAATGGCTACTTGTTTTTTTTCCCTTAAAAATTTTAGTGCAGCTTTGCTTTCCTTAAAGTAATATTTAATTTTCCATTATTTTCTATTTAAGCCCTTCATCGTGGGTGTAAATGGTACTGAAGCCCCAGAAAGTCCTACAGAGATTTTTCACCCTACAGTAGCTCTATGCTTCAAGCCTAAATATTTATAATAACCTGAATATTATCCCTGTTTCAAGGAAGACT... | CATTTGCTTGTTTTGTGTGTGCGTGCCTGCGCATCTATGTGTGCTAGCTCCATATTAAAATCAACATTTAAATATTAATGCAAGGTCACAAATATAAATGGCTACTTGTTTTTTTTCCCTTAAAAATTTTAGTGCAGCTTTGCTTTCCTTAAAGTAATATTTAATTTTCCATTATTTTCTATTTAAGCCCTTCATCGTGGGTGTAAATGGTACTGAAGCCCCAGAAAGTCCTACAGAGATTTTTCACCCTACAGTAGCTCTATGCTTCAAGCCTAAATATTTATAATAACCTGAATATTATCCCTGTTTCAAGGAAGACT... |
Task1_train_21550 | Chromosome 15 houses a mutation in gene TCF12 (transcription factor 12). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Developmental delay | TGAATGTACTAAATGCCACTGATTTGAAATGAAATGAAAACATTCAGTGTTTATGTTATATAAATTCCACCTCAACTTTTTAAAAAGCTCAAACACCAAAGAAAAGTCATTTAAATGAGAGTTTTTCTTGACTGTTAGACTGGAGGCAGAGATTGGGCTATTAGGGCTACTGTTCCAAAGCTCTGCTCCTGCTTTTTGACCAGAGCTGAGGTTTTATTTCTCAGTTCCTTTGTGATACTTGGTGGCTGAAACAACTACTTTTTAAGAGTATGGTGATGGCAGTAAGGGGTATTAAATATATGATGGGGGATTCGTAAATG... | TGAATGTACTAAATGCCACTGATTTGAAATGAAATGAAAACATTCAGTGTTTATGTTATATAAATTCCACCTCAACTTTTTAAAAAGCTCAAACACCAAAGAAAAGTCATTTAAATGAGAGTTTTTCTTGACTGTTAGACTGGAGGCAGAGATTGGGCTATTAGGGCTACTGTTCCAAAGCTCTGCTCCTGCTTTTTGACCAGAGCTGAGGTTTTATTTCTCAGTTCCTTTGTGATACTTGGTGGCTGAAACAACTACTTTTTAAGAGTATGGTGATGGCAGTAAGGGGTATTAAATATATGATGGGGGATTCGTAAATG... |
Task1_train_21551 | A change on Chromosome 15 affects gene TCF12 (transcription factor 12). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; TCF12-related craniosynostosis | TTTGTTCAGATACGCCCTGCCCTCAGAGGTGGAATCTAGAGAGGCAGTAGGCCTTGCTAGGCTGCGGTGGGCTCCGCCCAGTTCGAGCTTCCCTGCCACTTCGTTCACACAGTGAACATAAAACCACCTACTCAAGCCTCAGTAATGGTGGATGCCCCTCCCCCTGCCAAAGTTAGGCATCCCAGGTCGATCTCAGACTGCTGCGCTAGCAGCAAGCAAGGCTCCGTGGGCCTGGGACCCACCAGGCCAGGCACGGGAGGGAATCTCCTGGTCTGCTGGTTGCGAAGACTGTGGGAAAAGCGCAGTATTTGGGCAGGAGT... | TTTGTTCAGATACGCCCTGCCCTCAGAGGTGGAATCTAGAGAGGCAGTAGGCCTTGCTAGGCTGCGGTGGGCTCCGCCCAGTTCGAGCTTCCCTGCCACTTCGTTCACACAGTGAACATAAAACCACCTACTCAAGCCTCAGTAATGGTGGATGCCCCTCCCCCTGCCAAAGTTAGGCATCCCAGGTCGATCTCAGACTGCTGCGCTAGCAGCAAGCAAGGCTCCGTGGGCCTGGGACCCACCAGGCCAGGCACGGGAGGGAATCTCCTGGTCTGCTGGTTGCGAAGACTGTGGGAAAAGCGCAGTATTTGGGCAGGAGT... |
Task1_train_21552 | This variant lies on Chromosome 15 and affects the gene ALDH1A2 (aldehyde dehydrogenase 1 family member A2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Diaphragmatic hernia 4, with cardiovascular defects | ATTAGGGTCCATCAACCAGCGATCATTTATTGAAAGTATATTTTATGCTCATGATTCACCCTGTTAATGATCTGTAACAAAACAATCAATGCAAGCAGCATTCCCAGAGCCAGTGACTGACCCCAGCATTTCAGAGACTGGGAGAGCACAGACATAGAGGAAGGAAATGAAATAAGAAGCGGAATGCATCTTGAAAAGTGGAAGCAGAAGGTGAAGGTCAAAAGCAAATGAAGACATACCTGGAGTGCATGAAGACTCTGTAAAAGCTGAAGGAATACTAAGAACTGAACAAATATGACCCAGATTGGTTATAGGTTCTG... | ATTAGGGTCCATCAACCAGCGATCATTTATTGAAAGTATATTTTATGCTCATGATTCACCCTGTTAATGATCTGTAACAAAACAATCAATGCAAGCAGCATTCCCAGAGCCAGTGACTGACCCCAGCATTTCAGAGACTGGGAGAGCACAGACATAGAGGAAGGAAATGAAATAAGAAGCGGAATGCATCTTGAAAAGTGGAAGCAGAAGGTGAAGGTCAAAAGCAAATGAAGACATACCTGGAGTGCATGAAGACTCTGTAAAAGCTGAAGGAATACTAAGAACTGAACAAATATGACCCAGATTGGTTATAGGTTCTG... |
Task1_train_21553 | Gene ALDH1A2 (aldehyde dehydrogenase 1 family member A2) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Diaphragmatic hernia 4, with cardiovascular defects | GATTTTTCCAGTTCACAGTGATCTTCCCTATCCCTGAGCTCCTCCATTGGTTTACAGTCTTTTCTGCGATTCCTCTGATTCTTTCAATGTTATTAGTTTTATTTACCCCAAAACATATTAAATGCCTTAAGGACCTGCATCTTCCTCCATAGACCAAGCACAGTGCTTTGTACATATTTATGCTCAATATTTGTTAGATTGTGAACTAGGCATTTGCTCAAAAAAATAGGCATTCAGTAATGGCTGAGGGAACGGGCATGAAACATGTTTCCTCTGTGAGTCACAGCATTTGGCAAATACAGATCAGTTTCTTTCAAAAG... | GATTTTTCCAGTTCACAGTGATCTTCCCTATCCCTGAGCTCCTCCATTGGTTTACAGTCTTTTCTGCGATTCCTCTGATTCTTTCAATGTTATTAGTTTTATTTACCCCAAAACATATTAAATGCCTTAAGGACCTGCATCTTCCTCCATAGACCAAGCACAGTGCTTTGTACATATTTATGCTCAATATTTGTTAGATTGTGAACTAGGCATTTGCTCAAAAAAATAGGCATTCAGTAATGGCTGAGGGAACGGGCATGAAACATGTTTCCTCTGTGAGTCACAGCATTTGGCAAATACAGATCAGTTTCTTTCAAAAG... |
Task1_train_21554 | A variant was discovered in gene ALDH1A2 (aldehyde dehydrogenase 1 family member A2), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Diaphragmatic hernia 4, with cardiovascular defects | GTTCATTACTGTTGCAAAATGAATATATGTAAAATATAAAGAGCTAAAACTCTAATATCATCCACTAGAAATGCTCTAGAAATGATCCCAAGAAAGATGTGGCTTTTGTAAGAACAGCATATTTGATACCTCCTCCTTGGCAATCCGCATATCATCAGTGACGTTGGAAAACACTGTGGGCTCAATGAAAAACCCCTTTCGGCCCAGTCCTTTGCCTCCACATTCCAGCTTGGCGCCCTCAGCCACACCACTCTGGATGAGTTCCAAGATCTTGTTGTACTGTTTCTTATCAATCTGTGGGAGACAAGACTTAATGACTC... | GTTCATTACTGTTGCAAAATGAATATATGTAAAATATAAAGAGCTAAAACTCTAATATCATCCACTAGAAATGCTCTAGAAATGATCCCAAGAAAGATGTGGCTTTTGTAAGAACAGCATATTTGATACCTCCTCCTTGGCAATCCGCATATCATCAGTGACGTTGGAAAACACTGTGGGCTCAATGAAAAACCCCTTTCGGCCCAGTCCTTTGCCTCCACATTCCAGCTTGGCGCCCTCAGCCACACCACTCTGGATGAGTTCCAAGATCTTGTTGTACTGTTTCTTATCAATCTGTGGGAGACAAGACTTAATGACTC... |
Task1_train_21555 | Gene ALDH1A2 (aldehyde dehydrogenase 1 family member A2), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Diaphragmatic hernia 4, with cardiovascular defects | TTTCCAGGCAAACATCAGCAGGGGGAAGTTCCACTGAAAGGAAAAAACTCAAAGTTGATAGATGGAAAAACATTCTTCCACTACTTTGTTTTCAAGCTGTGACTTCTCATATTTCTCAAACTAGTCCTCGACATAAATCTTGTCCACTACAAAGTACAGATGTTTGGATTTTCAATTACTTCATTAAGAATAGAATAGCACTGACCTTGGAAATCTCTCCTTTTCTCTCTGACCAACCAATTACTATACTCCAACTACCCACCAAAAGAAATCCCACTGTGAAAAGGGAGTTTTGTTACTTCTTTGTTTTGTTTTGTCAC... | TTTCCAGGCAAACATCAGCAGGGGGAAGTTCCACTGAAAGGAAAAAACTCAAAGTTGATAGATGGAAAAACATTCTTCCACTACTTTGTTTTCAAGCTGTGACTTCTCATATTTCTCAAACTAGTCCTCGACATAAATCTTGTCCACTACAAAGTACAGATGTTTGGATTTTCAATTACTTCATTAAGAATAGAATAGCACTGACCTTGGAAATCTCTCCTTTTCTCTCTGACCAACCAATTACTATACTCCAACTACCCACCAAAAGAAATCCCACTGTGAAAAGGGAGTTTTGTTACTTCTTTGTTTTGTTTTGTCAC... |
Task1_train_21556 | A variant affecting Chromosome 15, within the gene LIPC (lipase C, hepatic type), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hyperlipidemia due to hepatic triglyceride lipase deficiency | TGTTAACTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTAAGCCACACCCAGCTAATTTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCATCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGGCCGGCCATGAGGACATTTTTACAAACAACTACTATCTGCTATTACCATTCCTTTATAAAAGAATTTCTTTTAACTTGAGAAAGAATGGGGATAATGGCAGACGTTTC... | TGTTAACTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTAAGCCACACCCAGCTAATTTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCATCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGGCCGGCCATGAGGACATTTTTACAAACAACTACTATCTGCTATTACCATTCCTTTATAAAAGAATTTCTTTTAACTTGAGAAAGAATGGGGATAATGGCAGACGTTTC... |
Task1_train_21557 | A genomic change on Chromosome 15 affects ADAM10 (ADAM metallopeptidase domain 10). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Reticulate acropigmentation of Kitamura | AAGATAAAGACCCAGAGATTATACTGAAAGATCAGGAAAAATCACCAATTAGTCCACGATTTGGGCAAATAAGTTGTCTTGAAAAACAACAAAAAAAAATGTTTTTTAAGTCCCATGAAAATGCCCTAATAATATGCACCAAAAGAAGTAACCCATCCAGGAGATGAACTAAGGAGCACGGTAAAACAGAATGACTCCCATCACCTACTAAGCAATCTATGAATGATACACATGATTCTGATCACTTCAGAAGGAAATAATAACCAGAAATATTAGAACTTTAAAAATCTTCATATAAAGTAATTCTAATATAAATAGTT... | AAGATAAAGACCCAGAGATTATACTGAAAGATCAGGAAAAATCACCAATTAGTCCACGATTTGGGCAAATAAGTTGTCTTGAAAAACAACAAAAAAAAATGTTTTTTAAGTCCCATGAAAATGCCCTAATAATATGCACCAAAAGAAGTAACCCATCCAGGAGATGAACTAAGGAGCACGGTAAAACAGAATGACTCCCATCACCTACTAAGCAATCTATGAATGATACACATGATTCTGATCACTTCAGAAGGAAATAATAACCAGAAATATTAGAACTTTAAAAATCTTCATATAAAGTAATTCTAATATAAATAGTT... |
Task1_train_21558 | A variant has been detected on Chromosome 15 in ADAM10 (ADAM metallopeptidase domain 10). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Reticulate acropigmentation of Kitamura | TACAATTAGCAATAACTAATTGTAAATTTCAAAATAGAAGATTTAAAATGTTCCCAAGACAAAGAAATGATAAATATCTGAGGAGATAAATATCCTTATTACCTTGATTTGATCATTAGATATTGTATGCATGTATCAAAATATCACATATACCTCATAAATATGTACAATCATTATGTATCAATTAAAAATGGAATAGGGGCCGGGTGCAGTGGCTCACACCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCGGGAGGATCAGGAGGTCAGGAGATCGAGACCACCTTGGCTAACAAGGTGAAAGCCCATCTCTACTAA... | TACAATTAGCAATAACTAATTGTAAATTTCAAAATAGAAGATTTAAAATGTTCCCAAGACAAAGAAATGATAAATATCTGAGGAGATAAATATCCTTATTACCTTGATTTGATCATTAGATATTGTATGCATGTATCAAAATATCACATATACCTCATAAATATGTACAATCATTATGTATCAATTAAAAATGGAATAGGGGCCGGGTGCAGTGGCTCACACCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCGGGAGGATCAGGAGGTCAGGAGATCGAGACCACCTTGGCTAACAAGGTGAAAGCCCATCTCTACTAA... |
Task1_train_21559 | This gene mutation involves ADAM10, ADAM10 (ADAM metallopeptidase domain 10| ADAM metallopeptidase domain 10) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Reticulate acropigmentation of Kitamura | AAGGGAACTCCTTCCGTACTCCCATCCTCATATCCTACAATTTCAATTACCTGAGAAGCTACAAATAAAATCACCTTAAAGATTGCTGCTTTTAAATTCTAACCCCACTACTGATATGTAATAATAAAAAGAATGTTAAAAAGTTCTCCTTACCACAAACATATATTTACTTAAACAAGTATAAAATAAAAGCTGATATCAATGATAAAGCATTTAAATGCCAAAAAGAACAAAAAATCAAGTAACATCCAGTGTCATTCATCCTCCAAGCTAACTCATCATCTTTGGGGAAAAAAAAAGATTGACACCTATTAAGATAT... | AAGGGAACTCCTTCCGTACTCCCATCCTCATATCCTACAATTTCAATTACCTGAGAAGCTACAAATAAAATCACCTTAAAGATTGCTGCTTTTAAATTCTAACCCCACTACTGATATGTAATAATAAAAAGAATGTTAAAAAGTTCTCCTTACCACAAACATATATTTACTTAAACAAGTATAAAATAAAAGCTGATATCAATGATAAAGCATTTAAATGCCAAAAAGAACAAAAAATCAAGTAACATCCAGTGTCATTCATCCTCCAAGCTAACTCATCATCTTTGGGGAAAAAAAAAGATTGACACCTATTAAGATAT... |
Task1_train_21560 | The gene MYO1E (myosin IE), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Focal segmental glomerulosclerosis 6 | AAGATTTGTAAGTGTTAAATATATACATTCTTATGCTTCATAATACCTGTGCATTTTTTAAAGTGAAATTACTCATAATTCTACCCTGATGCCACTTCTTCATTCTCTTGCTAAATAATTACTGTCATAGATGTCAAACTTTGATTTACATACCTCTTAGTTACCTTTCATATAATGTGCACATTAAAAAAAAACAAGAACATATTGTAAATATTGTTCTGTAATCTGTTTTTTTAATTTAACAATATATTATGAATATCTTTTAAAATAAGTAGTTATTTAAGCAGGAAGCTTATGTAATTTATTCTAAAAGTATTGTT... | AAGATTTGTAAGTGTTAAATATATACATTCTTATGCTTCATAATACCTGTGCATTTTTTAAAGTGAAATTACTCATAATTCTACCCTGATGCCACTTCTTCATTCTCTTGCTAAATAATTACTGTCATAGATGTCAAACTTTGATTTACATACCTCTTAGTTACCTTTCATATAATGTGCACATTAAAAAAAAACAAGAACATATTGTAAATATTGTTCTGTAATCTGTTTTTTTAATTTAACAATATATTATGAATATCTTTTAAAATAAGTAGTTATTTAAGCAGGAAGCTTATGTAATTTATTCTAAAAGTATTGTT... |
Task1_train_21561 | The gene RORA-AS1, RORA (RORA antisense RNA 1| RAR related orphan receptor A), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | TTCACATTGTTTGTGCCATGGTACTCAGTCAACTTAGGTTTTACTCAATAGCATGTTGTTAATTAATCTTCCAAATTGTTGGGGTATTTCATATGAAGTAGCCCCTACCCCCACCTTGTCCTTTCCCCAGACTCCATTCCTAGATAATCACTTCTGTCAATTCCTAGATAATCACTTGCCTTACTGACAGATTCAGAGGAAGCCATCAGTTTTTTGGGCAGAATGAAGGGACAAATGGTGAACTGGTATCCGGGATGCTGCCTAGAACCCTGTCCATTTAAGAAGACACCCAGGTGATACGCAATGCACAAAAAGCACTG... | TTCACATTGTTTGTGCCATGGTACTCAGTCAACTTAGGTTTTACTCAATAGCATGTTGTTAATTAATCTTCCAAATTGTTGGGGTATTTCATATGAAGTAGCCCCTACCCCCACCTTGTCCTTTCCCCAGACTCCATTCCTAGATAATCACTTCTGTCAATTCCTAGATAATCACTTGCCTTACTGACAGATTCAGAGGAAGCCATCAGTTTTTTGGGCAGAATGAAGGGACAAATGGTGAACTGGTATCCGGGATGCTGCCTAGAACCCTGTCCATTTAAGAAGACACCCAGGTGATACGCAATGCACAAAAAGCACTG... |
Task1_train_21562 | Here is a genetic alteration in RORA, RORA-AS1 (RAR related orphan receptor A| RORA antisense RNA 1) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | TTGTTTGTGCCATGGTACTCAGTCAACTTAGGTTTTACTCAATAGCATGTTGTTAATTAATCTTCCAAATTGTTGGGGTATTTCATATGAAGTAGCCCCTACCCCCACCTTGTCCTTTCCCCAGACTCCATTCCTAGATAATCACTTCTGTCAATTCCTAGATAATCACTTGCCTTACTGACAGATTCAGAGGAAGCCATCAGTTTTTTGGGCAGAATGAAGGGACAAATGGTGAACTGGTATCCGGGATGCTGCCTAGAACCCTGTCCATTTAAGAAGACACCCAGGTGATACGCAATGCACAAAAAGCACTGGAACTC... | TTGTTTGTGCCATGGTACTCAGTCAACTTAGGTTTTACTCAATAGCATGTTGTTAATTAATCTTCCAAATTGTTGGGGTATTTCATATGAAGTAGCCCCTACCCCCACCTTGTCCTTTCCCCAGACTCCATTCCTAGATAATCACTTCTGTCAATTCCTAGATAATCACTTGCCTTACTGACAGATTCAGAGGAAGCCATCAGTTTTTTGGGCAGAATGAAGGGACAAATGGTGAACTGGTATCCGGGATGCTGCCTAGAACCCTGTCCATTTAAGAAGACACCCAGGTGATACGCAATGCACAAAAAGCACTGGAACTC... |
Task1_train_21563 | Here is a variant affecting VPS13C (vacuolar protein sorting 13 homolog C) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Young-onset Parkinson disease | ACTAACCAACAAAGGGCTCATATTCAGAATTTTAAAACTACATATCAATAAGAAAAAAGGCAAACATCAAATAGTTGTATGATAGAATGGTTACATCACATAAAAGGATATCCAAATGGCCAATAACCATATGAAAAGGTGATCACCTTCACCAGTAATCAAAAAGCAAATAAAAACCGTAGTGAGATGCCACTGCCTATCTATCAGAATGCTAAATTTAAAAAGATTGGCAATGCCAAGTACTGGGGAGAATGTGAAACAACTGGAACTCTCATACATTGCTGCTAGGAAAGTAAATTGGTACAACCAGTTGGAAAACT... | ACTAACCAACAAAGGGCTCATATTCAGAATTTTAAAACTACATATCAATAAGAAAAAAGGCAAACATCAAATAGTTGTATGATAGAATGGTTACATCACATAAAAGGATATCCAAATGGCCAATAACCATATGAAAAGGTGATCACCTTCACCAGTAATCAAAAAGCAAATAAAAACCGTAGTGAGATGCCACTGCCTATCTATCAGAATGCTAAATTTAAAAAGATTGGCAATGCCAAGTACTGGGGAGAATGTGAAACAACTGGAACTCTCATACATTGCTGCTAGGAAAGTAAATTGGTACAACCAGTTGGAAAACT... |
Task1_train_21564 | Gene VPS13C (vacuolar protein sorting 13 homolog C) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Parkinson disease | ACTAACCAACAAAGGGCTCATATTCAGAATTTTAAAACTACATATCAATAAGAAAAAAGGCAAACATCAAATAGTTGTATGATAGAATGGTTACATCACATAAAAGGATATCCAAATGGCCAATAACCATATGAAAAGGTGATCACCTTCACCAGTAATCAAAAAGCAAATAAAAACCGTAGTGAGATGCCACTGCCTATCTATCAGAATGCTAAATTTAAAAAGATTGGCAATGCCAAGTACTGGGGAGAATGTGAAACAACTGGAACTCTCATACATTGCTGCTAGGAAAGTAAATTGGTACAACCAGTTGGAAAACT... | ACTAACCAACAAAGGGCTCATATTCAGAATTTTAAAACTACATATCAATAAGAAAAAAGGCAAACATCAAATAGTTGTATGATAGAATGGTTACATCACATAAAAGGATATCCAAATGGCCAATAACCATATGAAAAGGTGATCACCTTCACCAGTAATCAAAAAGCAAATAAAAACCGTAGTGAGATGCCACTGCCTATCTATCAGAATGCTAAATTTAAAAAGATTGGCAATGCCAAGTACTGGGGAGAATGTGAAACAACTGGAACTCTCATACATTGCTGCTAGGAAAGTAAATTGGTACAACCAGTTGGAAAACT... |
Task1_train_21565 | This genomic variant is located on Chromosome 15, within the TPM1 (tropomyosin 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | TCTTACCTGACCCAAAAGTATATCCTTAATATATACATCCTTCCAGTAATAGTAATAAAAAAAAAAAGCCTAATGGTTTTTAAAAGACACTTCCCTATAATTGAGAGATTTGTTATCCTATTACCCTCACCCTTCAATACACACACACACCAGAAACAACAGTCATCTGCCAGTAATTCCTAGCTGGGTCCATTTACCAGCTGTGCACTGATAATGATTTACTTTGTAGGCAGTACAGTTGTAAATGCTCTTCCTCTGATTTATTTCACATTTGCCCTGCTCCCTGCCTCCATCAACCAATTACTACATTTTTGTCAAGA... | TCTTACCTGACCCAAAAGTATATCCTTAATATATACATCCTTCCAGTAATAGTAATAAAAAAAAAAAGCCTAATGGTTTTTAAAAGACACTTCCCTATAATTGAGAGATTTGTTATCCTATTACCCTCACCCTTCAATACACACACACACCAGAAACAACAGTCATCTGCCAGTAATTCCTAGCTGGGTCCATTTACCAGCTGTGCACTGATAATGATTTACTTTGTAGGCAGTACAGTTGTAAATGCTCTTCCTCTGATTTATTTCACATTTGCCCTGCTCCCTGCCTCCATCAACCAATTACTACATTTTTGTCAAGA... |
Task1_train_21566 | With a mutation on Chromosome 15 in gene TPM1 (tropomyosin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hypertrophic cardiomyopathy 3 | ACGCTATAGGACCCTAATATACACCATGCCATAGGACCCTAATACACTCAGTGTAGAGGACAGTGTCAGGCCTGTCTCCCAGCATTGCTGTCATGAAAGGGTTCCATTATAGGTAAAACTTAATTTGATGCATTCAGTTGAACCATAAGAAATTGCCATTATTACTTGTCTGAAATGGTCAAATATCAGCATTCTTTGTGGACTTAATAGTTTATTAAATCTAACATTAAGTCTAATATTTTTGTTTATGGGTGGCAGGGTAAGAAGATTCTTTGTAGAAAGAGGTATATAAAGATAAGTTTGATTTTGTTCTAGCTTTG... | ACGCTATAGGACCCTAATATACACCATGCCATAGGACCCTAATACACTCAGTGTAGAGGACAGTGTCAGGCCTGTCTCCCAGCATTGCTGTCATGAAAGGGTTCCATTATAGGTAAAACTTAATTTGATGCATTCAGTTGAACCATAAGAAATTGCCATTATTACTTGTCTGAAATGGTCAAATATCAGCATTCTTTGTGGACTTAATAGTTTATTAAATCTAACATTAAGTCTAATATTTTTGTTTATGGGTGGCAGGGTAAGAAGATTCTTTGTAGAAAGAGGTATATAAAGATAAGTTTGATTTTGTTCTAGCTTTG... |
Task1_train_21567 | This variant lies on Chromosome 15 and affects the gene TPM1 (tropomyosin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Dilated cardiomyopathy 1Y | ACGCTATAGGACCCTAATATACACCATGCCATAGGACCCTAATACACTCAGTGTAGAGGACAGTGTCAGGCCTGTCTCCCAGCATTGCTGTCATGAAAGGGTTCCATTATAGGTAAAACTTAATTTGATGCATTCAGTTGAACCATAAGAAATTGCCATTATTACTTGTCTGAAATGGTCAAATATCAGCATTCTTTGTGGACTTAATAGTTTATTAAATCTAACATTAAGTCTAATATTTTTGTTTATGGGTGGCAGGGTAAGAAGATTCTTTGTAGAAAGAGGTATATAAAGATAAGTTTGATTTTGTTCTAGCTTTG... | ACGCTATAGGACCCTAATATACACCATGCCATAGGACCCTAATACACTCAGTGTAGAGGACAGTGTCAGGCCTGTCTCCCAGCATTGCTGTCATGAAAGGGTTCCATTATAGGTAAAACTTAATTTGATGCATTCAGTTGAACCATAAGAAATTGCCATTATTACTTGTCTGAAATGGTCAAATATCAGCATTCTTTGTGGACTTAATAGTTTATTAAATCTAACATTAAGTCTAATATTTTTGTTTATGGGTGGCAGGGTAAGAAGATTCTTTGTAGAAAGAGGTATATAAAGATAAGTTTGATTTTGTTCTAGCTTTG... |
Task1_train_21568 | This variant lies on Chromosome 15 and affects the gene TPM1 (tropomyosin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Cardiomyopathy | ACGCTATAGGACCCTAATATACACCATGCCATAGGACCCTAATACACTCAGTGTAGAGGACAGTGTCAGGCCTGTCTCCCAGCATTGCTGTCATGAAAGGGTTCCATTATAGGTAAAACTTAATTTGATGCATTCAGTTGAACCATAAGAAATTGCCATTATTACTTGTCTGAAATGGTCAAATATCAGCATTCTTTGTGGACTTAATAGTTTATTAAATCTAACATTAAGTCTAATATTTTTGTTTATGGGTGGCAGGGTAAGAAGATTCTTTGTAGAAAGAGGTATATAAAGATAAGTTTGATTTTGTTCTAGCTTTG... | ACGCTATAGGACCCTAATATACACCATGCCATAGGACCCTAATACACTCAGTGTAGAGGACAGTGTCAGGCCTGTCTCCCAGCATTGCTGTCATGAAAGGGTTCCATTATAGGTAAAACTTAATTTGATGCATTCAGTTGAACCATAAGAAATTGCCATTATTACTTGTCTGAAATGGTCAAATATCAGCATTCTTTGTGGACTTAATAGTTTATTAAATCTAACATTAAGTCTAATATTTTTGTTTATGGGTGGCAGGGTAAGAAGATTCTTTGTAGAAAGAGGTATATAAAGATAAGTTTGATTTTGTTCTAGCTTTG... |
Task1_train_21569 | This alteration occurs within gene TPM1 (tropomyosin 1) located on Chromosome 15. Is it associated with a disease or is it a benign variant? | Pathogenic; Primary familial hypertrophic cardiomyopathy | ACGCTATAGGACCCTAATATACACCATGCCATAGGACCCTAATACACTCAGTGTAGAGGACAGTGTCAGGCCTGTCTCCCAGCATTGCTGTCATGAAAGGGTTCCATTATAGGTAAAACTTAATTTGATGCATTCAGTTGAACCATAAGAAATTGCCATTATTACTTGTCTGAAATGGTCAAATATCAGCATTCTTTGTGGACTTAATAGTTTATTAAATCTAACATTAAGTCTAATATTTTTGTTTATGGGTGGCAGGGTAAGAAGATTCTTTGTAGAAAGAGGTATATAAAGATAAGTTTGATTTTGTTCTAGCTTTG... | ACGCTATAGGACCCTAATATACACCATGCCATAGGACCCTAATACACTCAGTGTAGAGGACAGTGTCAGGCCTGTCTCCCAGCATTGCTGTCATGAAAGGGTTCCATTATAGGTAAAACTTAATTTGATGCATTCAGTTGAACCATAAGAAATTGCCATTATTACTTGTCTGAAATGGTCAAATATCAGCATTCTTTGTGGACTTAATAGTTTATTAAATCTAACATTAAGTCTAATATTTTTGTTTATGGGTGGCAGGGTAAGAAGATTCTTTGTAGAAAGAGGTATATAAAGATAAGTTTGATTTTGTTCTAGCTTTG... |
Task1_train_21570 | This variant lies on Chromosome 15 and affects the gene TPM1 (tropomyosin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hypertrophic cardiomyopathy | ACGCTATAGGACCCTAATATACACCATGCCATAGGACCCTAATACACTCAGTGTAGAGGACAGTGTCAGGCCTGTCTCCCAGCATTGCTGTCATGAAAGGGTTCCATTATAGGTAAAACTTAATTTGATGCATTCAGTTGAACCATAAGAAATTGCCATTATTACTTGTCTGAAATGGTCAAATATCAGCATTCTTTGTGGACTTAATAGTTTATTAAATCTAACATTAAGTCTAATATTTTTGTTTATGGGTGGCAGGGTAAGAAGATTCTTTGTAGAAAGAGGTATATAAAGATAAGTTTGATTTTGTTCTAGCTTTG... | ACGCTATAGGACCCTAATATACACCATGCCATAGGACCCTAATACACTCAGTGTAGAGGACAGTGTCAGGCCTGTCTCCCAGCATTGCTGTCATGAAAGGGTTCCATTATAGGTAAAACTTAATTTGATGCATTCAGTTGAACCATAAGAAATTGCCATTATTACTTGTCTGAAATGGTCAAATATCAGCATTCTTTGTGGACTTAATAGTTTATTAAATCTAACATTAAGTCTAATATTTTTGTTTATGGGTGGCAGGGTAAGAAGATTCTTTGTAGAAAGAGGTATATAAAGATAAGTTTGATTTTGTTCTAGCTTTG... |
Task1_train_21571 | This alteration occurs within gene TPM1 (tropomyosin 1) located on Chromosome 15. Is it associated with a disease or is it a benign variant? | Pathogenic; Cardiovascular phenotype | ACGCTATAGGACCCTAATATACACCATGCCATAGGACCCTAATACACTCAGTGTAGAGGACAGTGTCAGGCCTGTCTCCCAGCATTGCTGTCATGAAAGGGTTCCATTATAGGTAAAACTTAATTTGATGCATTCAGTTGAACCATAAGAAATTGCCATTATTACTTGTCTGAAATGGTCAAATATCAGCATTCTTTGTGGACTTAATAGTTTATTAAATCTAACATTAAGTCTAATATTTTTGTTTATGGGTGGCAGGGTAAGAAGATTCTTTGTAGAAAGAGGTATATAAAGATAAGTTTGATTTTGTTCTAGCTTTG... | ACGCTATAGGACCCTAATATACACCATGCCATAGGACCCTAATACACTCAGTGTAGAGGACAGTGTCAGGCCTGTCTCCCAGCATTGCTGTCATGAAAGGGTTCCATTATAGGTAAAACTTAATTTGATGCATTCAGTTGAACCATAAGAAATTGCCATTATTACTTGTCTGAAATGGTCAAATATCAGCATTCTTTGTGGACTTAATAGTTTATTAAATCTAACATTAAGTCTAATATTTTTGTTTATGGGTGGCAGGGTAAGAAGATTCTTTGTAGAAAGAGGTATATAAAGATAAGTTTGATTTTGTTCTAGCTTTG... |
Task1_train_21572 | This mutation occurs in TPM1 (tropomyosin 1) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypertrophic cardiomyopathy | ATATACACCATGCCATAGGACCCTAATACACTCAGTGTAGAGGACAGTGTCAGGCCTGTCTCCCAGCATTGCTGTCATGAAAGGGTTCCATTATAGGTAAAACTTAATTTGATGCATTCAGTTGAACCATAAGAAATTGCCATTATTACTTGTCTGAAATGGTCAAATATCAGCATTCTTTGTGGACTTAATAGTTTATTAAATCTAACATTAAGTCTAATATTTTTGTTTATGGGTGGCAGGGTAAGAAGATTCTTTGTAGAAAGAGGTATATAAAGATAAGTTTGATTTTGTTCTAGCTTTGGTTCATGTGCAAGCTG... | ATATACACCATGCCATAGGACCCTAATACACTCAGTGTAGAGGACAGTGTCAGGCCTGTCTCCCAGCATTGCTGTCATGAAAGGGTTCCATTATAGGTAAAACTTAATTTGATGCATTCAGTTGAACCATAAGAAATTGCCATTATTACTTGTCTGAAATGGTCAAATATCAGCATTCTTTGTGGACTTAATAGTTTATTAAATCTAACATTAAGTCTAATATTTTTGTTTATGGGTGGCAGGGTAAGAAGATTCTTTGTAGAAAGAGGTATATAAAGATAAGTTTGATTTTGTTCTAGCTTTGGTTCATGTGCAAGCTG... |
Task1_train_21573 | This gene mutation involves TPM1 (tropomyosin 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hypertrophic cardiomyopathy | ATTAAGGTTTCTGTTTTTTCCTTATTGGATCACATCGTGGCTATCCTGAAACAGCATTGCCCCTCCTTTTTATTACCATTATTACCTTCAGATTACACTATGCTCACAAGTTTTGATCTGCTTCAGAGGCTCCCTTCCTCTCTCTGGTTCTTCCACTAAATACAAATTTGATTTTGTCAGTTATCTCACCAACTTGTCTCACGTTAGTGTCTCTTGTATTCTTCCACTGCAGTAAGGAGGTAGATGCACAGATCAGCCATCAAATTGATGGAGTTCTTAGGTTTACTTTGTTTTCCTGGCAGCCCCCACCTTTTTAGTAC... | ATTAAGGTTTCTGTTTTTTCCTTATTGGATCACATCGTGGCTATCCTGAAACAGCATTGCCCCTCCTTTTTATTACCATTATTACCTTCAGATTACACTATGCTCACAAGTTTTGATCTGCTTCAGAGGCTCCCTTCCTCTCTCTGGTTCTTCCACTAAATACAAATTTGATTTTGTCAGTTATCTCACCAACTTGTCTCACGTTAGTGTCTCTTGTATTCTTCCACTGCAGTAAGGAGGTAGATGCACAGATCAGCCATCAAATTGATGGAGTTCTTAGGTTTACTTTGTTTTCCTGGCAGCCCCCACCTTTTTAGTAC... |
Task1_train_21574 | Given a variant located on Chromosome 15 and affecting TPM1 (tropomyosin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Primary dilated cardiomyopathy | ATTAAGGTTTCTGTTTTTTCCTTATTGGATCACATCGTGGCTATCCTGAAACAGCATTGCCCCTCCTTTTTATTACCATTATTACCTTCAGATTACACTATGCTCACAAGTTTTGATCTGCTTCAGAGGCTCCCTTCCTCTCTCTGGTTCTTCCACTAAATACAAATTTGATTTTGTCAGTTATCTCACCAACTTGTCTCACGTTAGTGTCTCTTGTATTCTTCCACTGCAGTAAGGAGGTAGATGCACAGATCAGCCATCAAATTGATGGAGTTCTTAGGTTTACTTTGTTTTCCTGGCAGCCCCCACCTTTTTAGTAC... | ATTAAGGTTTCTGTTTTTTCCTTATTGGATCACATCGTGGCTATCCTGAAACAGCATTGCCCCTCCTTTTTATTACCATTATTACCTTCAGATTACACTATGCTCACAAGTTTTGATCTGCTTCAGAGGCTCCCTTCCTCTCTCTGGTTCTTCCACTAAATACAAATTTGATTTTGTCAGTTATCTCACCAACTTGTCTCACGTTAGTGTCTCTTGTATTCTTCCACTGCAGTAAGGAGGTAGATGCACAGATCAGCCATCAAATTGATGGAGTTCTTAGGTTTACTTTGTTTTCCTGGCAGCCCCCACCTTTTTAGTAC... |
Task1_train_21575 | This variant affects the gene TPM1 (tropomyosin 1) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hypertrophic cardiomyopathy 3 | ATTAAGGTTTCTGTTTTTTCCTTATTGGATCACATCGTGGCTATCCTGAAACAGCATTGCCCCTCCTTTTTATTACCATTATTACCTTCAGATTACACTATGCTCACAAGTTTTGATCTGCTTCAGAGGCTCCCTTCCTCTCTCTGGTTCTTCCACTAAATACAAATTTGATTTTGTCAGTTATCTCACCAACTTGTCTCACGTTAGTGTCTCTTGTATTCTTCCACTGCAGTAAGGAGGTAGATGCACAGATCAGCCATCAAATTGATGGAGTTCTTAGGTTTACTTTGTTTTCCTGGCAGCCCCCACCTTTTTAGTAC... | ATTAAGGTTTCTGTTTTTTCCTTATTGGATCACATCGTGGCTATCCTGAAACAGCATTGCCCCTCCTTTTTATTACCATTATTACCTTCAGATTACACTATGCTCACAAGTTTTGATCTGCTTCAGAGGCTCCCTTCCTCTCTCTGGTTCTTCCACTAAATACAAATTTGATTTTGTCAGTTATCTCACCAACTTGTCTCACGTTAGTGTCTCTTGTATTCTTCCACTGCAGTAAGGAGGTAGATGCACAGATCAGCCATCAAATTGATGGAGTTCTTAGGTTTACTTTGTTTTCCTGGCAGCCCCCACCTTTTTAGTAC... |
Task1_train_21576 | A variant on Chromosome 15 in gene TPM1 (tropomyosin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Dilated cardiomyopathy 1Y | ATTAAGGTTTCTGTTTTTTCCTTATTGGATCACATCGTGGCTATCCTGAAACAGCATTGCCCCTCCTTTTTATTACCATTATTACCTTCAGATTACACTATGCTCACAAGTTTTGATCTGCTTCAGAGGCTCCCTTCCTCTCTCTGGTTCTTCCACTAAATACAAATTTGATTTTGTCAGTTATCTCACCAACTTGTCTCACGTTAGTGTCTCTTGTATTCTTCCACTGCAGTAAGGAGGTAGATGCACAGATCAGCCATCAAATTGATGGAGTTCTTAGGTTTACTTTGTTTTCCTGGCAGCCCCCACCTTTTTAGTAC... | ATTAAGGTTTCTGTTTTTTCCTTATTGGATCACATCGTGGCTATCCTGAAACAGCATTGCCCCTCCTTTTTATTACCATTATTACCTTCAGATTACACTATGCTCACAAGTTTTGATCTGCTTCAGAGGCTCCCTTCCTCTCTCTGGTTCTTCCACTAAATACAAATTTGATTTTGTCAGTTATCTCACCAACTTGTCTCACGTTAGTGTCTCTTGTATTCTTCCACTGCAGTAAGGAGGTAGATGCACAGATCAGCCATCAAATTGATGGAGTTCTTAGGTTTACTTTGTTTTCCTGGCAGCCCCCACCTTTTTAGTAC... |
Task1_train_21577 | The gene TPM1 (tropomyosin 1), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; TPM1-related disorder | ATTAAGGTTTCTGTTTTTTCCTTATTGGATCACATCGTGGCTATCCTGAAACAGCATTGCCCCTCCTTTTTATTACCATTATTACCTTCAGATTACACTATGCTCACAAGTTTTGATCTGCTTCAGAGGCTCCCTTCCTCTCTCTGGTTCTTCCACTAAATACAAATTTGATTTTGTCAGTTATCTCACCAACTTGTCTCACGTTAGTGTCTCTTGTATTCTTCCACTGCAGTAAGGAGGTAGATGCACAGATCAGCCATCAAATTGATGGAGTTCTTAGGTTTACTTTGTTTTCCTGGCAGCCCCCACCTTTTTAGTAC... | ATTAAGGTTTCTGTTTTTTCCTTATTGGATCACATCGTGGCTATCCTGAAACAGCATTGCCCCTCCTTTTTATTACCATTATTACCTTCAGATTACACTATGCTCACAAGTTTTGATCTGCTTCAGAGGCTCCCTTCCTCTCTCTGGTTCTTCCACTAAATACAAATTTGATTTTGTCAGTTATCTCACCAACTTGTCTCACGTTAGTGTCTCTTGTATTCTTCCACTGCAGTAAGGAGGTAGATGCACAGATCAGCCATCAAATTGATGGAGTTCTTAGGTTTACTTTGTTTTCCTGGCAGCCCCCACCTTTTTAGTAC... |
Task1_train_21578 | Gene TPM1 (tropomyosin 1), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Left ventricular noncompaction 9 | GAATGTGTATTTTATCCCTCCTTCCACATTTTGGTCTGGCTGCCGGTTCACCTAGGTCAGACTTCCAATTGAGACTGCCCAATCACAGCTAACCATTCTGAGTCAAAGCAGAAGCCTCTGATCTCCTCTCTGCTGGCACTCCTAATAGAGAGTTGCTTCTCTCTGGTCTACCAGAAAGAGGATCATATTGTTTGTAGACAAAACCCTTAGGGCCTGATGGGATCTGATCTCTACCCCCATGCCCTTCTGTTACACAAAGCTTGCAAGACCCATGGTGTGTGTGTTGTGTCTTCCTGCTGCAGGTGGCCCGTAAGCTGGTC... | GAATGTGTATTTTATCCCTCCTTCCACATTTTGGTCTGGCTGCCGGTTCACCTAGGTCAGACTTCCAATTGAGACTGCCCAATCACAGCTAACCATTCTGAGTCAAAGCAGAAGCCTCTGATCTCCTCTCTGCTGGCACTCCTAATAGAGAGTTGCTTCTCTCTGGTCTACCAGAAAGAGGATCATATTGTTTGTAGACAAAACCCTTAGGGCCTGATGGGATCTGATCTCTACCCCCATGCCCTTCTGTTACACAAAGCTTGCAAGACCCATGGTGTGTGTGTTGTGTCTTCCTGCTGCAGGTGGCCCGTAAGCTGGTC... |
Task1_train_21579 | A change on Chromosome 15 affects gene CA12 (carbonic anhydrase 12). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Isolated hyperchlorhidrosis | GCCACCAAGCCCGGCTAATTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCCGGTGATCCACCCGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCAACATGCCCCACCAGAATCTTCTTATATGAACTCCATCCCAAAGAACCACTACACTTCCAAGGTCCTTCCTTAGAGGACCCACTTTAGGGACACCCTGATGCCTTTTCTCTAGTATTGGCATTTATGGTCCATCTTAACCAGACTCTTGGTCTGATGCTGTGACTTAATAGCAGAAAATACAA... | GCCACCAAGCCCGGCTAATTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCCGGTGATCCACCCGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCAACATGCCCCACCAGAATCTTCTTATATGAACTCCATCCCAAAGAACCACTACACTTCCAAGGTCCTTCCTTAGAGGACCCACTTTAGGGACACCCTGATGCCTTTTCTCTAGTATTGGCATTTATGGTCCATCTTAACCAGACTCTTGGTCTGATGCTGTGACTTAATAGCAGAAAATACAA... |
Task1_train_21580 | This variant impacts the gene CA12 (carbonic anhydrase 12) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Isolated hyperchlorhidrosis | GGTCTCGAACTCCTGACCTCCGGTGATCCACCCGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCAACATGCCCCACCAGAATCTTCTTATATGAACTCCATCCCAAAGAACCACTACACTTCCAAGGTCCTTCCTTAGAGGACCCACTTTAGGGACACCCTGATGCCTTTTCTCTAGTATTGGCATTTATGGTCCATCTTAACCAGACTCTTGGTCTGATGCTGTGACTTAATAGCAGAAAATACAAGAAGTAGAAATATTTTAAAACACATAAACCCTGCCAATCTACACCCTAACCTCCTTTGTGAAAG... | GGTCTCGAACTCCTGACCTCCGGTGATCCACCCGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCAACATGCCCCACCAGAATCTTCTTATATGAACTCCATCCCAAAGAACCACTACACTTCCAAGGTCCTTCCTTAGAGGACCCACTTTAGGGACACCCTGATGCCTTTTCTCTAGTATTGGCATTTATGGTCCATCTTAACCAGACTCTTGGTCTGATGCTGTGACTTAATAGCAGAAAATACAAGAAGTAGAAATATTTTAAAACACATAAACCCTGCCAATCTACACCCTAACCTCCTTTGTGAAAG... |
Task1_train_21581 | A mutation in HERC1 (HECT and RLD domain containing E3 ubiquitin protein ligase family member 1), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Macrocephaly, dysmorphic facies, and psychomotor retardation | GAGATCCCTTGAGCCCAACAGTTCAAAGCTGCAGTGAGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTCTCTTAAAAAATAAAATAATAAAAAACTGGCACTAAGGTTGTCCCATAAGGATCAGAGATTGGCAGTAAAGGCAGTCTCTTCTGATAGTAAAGGTCAATACCCCACCAAAGTCTGCCAAACGAAAACAAAAACGAACAAGCTGTTATGCTTGGTGGAACACAAAACAAAAGCTGTCTGGAAAAAAAATTAGGCTGAGGTATGGGGCTGGCTGCTTGGAGATGGCAGGGGGACAACTGAGGACA... | GAGATCCCTTGAGCCCAACAGTTCAAAGCTGCAGTGAGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTCTCTTAAAAAATAAAATAATAAAAAACTGGCACTAAGGTTGTCCCATAAGGATCAGAGATTGGCAGTAAAGGCAGTCTCTTCTGATAGTAAAGGTCAATACCCCACCAAAGTCTGCCAAACGAAAACAAAAACGAACAAGCTGTTATGCTTGGTGGAACACAAAACAAAAGCTGTCTGGAAAAAAAATTAGGCTGAGGTATGGGGCTGGCTGCTTGGAGATGGCAGGGGGACAACTGAGGACA... |
Task1_train_21582 | This variant affects the gene HERC1 (HECT and RLD domain containing E3 ubiquitin protein ligase family member 1) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Macrocephaly, dysmorphic facies, and psychomotor retardation | TTTCATTCATTTGATCTTCCATCACTGATACCCTTTCTTCCAGTTGATCGAATCGGTTACTGAGGCTTGTGCATTCATCACGTAGTTTTCGTGCCACGGTTTTCAGCTCCATCAGGTCCTTTAAGGACTTCTCTGCATTGGTTATTCTAGTTAGCCATTCGTCTAATTTTTTTTCAAGGTTTTTAACTTCTTTGCCATGGGTTCGAACTTCCTCCTTTAGCTCAGGGTAGTTTGATCGTCTGAAGCCTTCTTCTCTCAACTCGTCAAAGTCATTCTCCGTCCAGCTTTGTTCCGTTGCTGGTGAGGAGCTGCGTAATCAT... | TTTCATTCATTTGATCTTCCATCACTGATACCCTTTCTTCCAGTTGATCGAATCGGTTACTGAGGCTTGTGCATTCATCACGTAGTTTTCGTGCCACGGTTTTCAGCTCCATCAGGTCCTTTAAGGACTTCTCTGCATTGGTTATTCTAGTTAGCCATTCGTCTAATTTTTTTTCAAGGTTTTTAACTTCTTTGCCATGGGTTCGAACTTCCTCCTTTAGCTCAGGGTAGTTTGATCGTCTGAAGCCTTCTTCTCTCAACTCGTCAAAGTCATTCTCCGTCCAGCTTTGTTCCGTTGCTGGTGAGGAGCTGCGTAATCAT... |
Task1_train_21583 | This is a variant in PPIB (peptidylprolyl isomerase B), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; Osteogenesis imperfecta type 9 | GTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTGTTTTTTTATTTTTTATTTTTATTTTTGAGATGGAGTTTCCCTCTTGTTGCCCAGGCTAGAGTGCAGTGGGGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAACAAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCCTACCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGATTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTACCCGCCTCAGCCTCCCAAAGTGCTGGG... | GTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTGTTTTTTTATTTTTTATTTTTATTTTTGAGATGGAGTTTCCCTCTTGTTGCCCAGGCTAGAGTGCAGTGGGGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAACAAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCCTACCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGATTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTACCCGCCTCAGCCTCCCAAAGTGCTGGG... |
Task1_train_21584 | This mutation occurs in TRIP4 (thyroid hormone receptor interactor 4) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | AGAAATAGAATGCACTTACTTTTTGATAAACAGAAAGTGGAAAAGGGTCTCTCCCTATTGTTGCTGTTTTGCTGGTGTATTCATGGATACCAGTTTCATTATCTAGGTTTTTGTATAAGACCAATTTCCACCAGGCACAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGACGGATTGCTTGAGCCTGTAAGTTTGAGAGCAGCCTGGGCAGCATAGCAAAACCCTGTCTGTACAAAAAATACAGAAATTAGCCAGGAGTAATGTTACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGA... | AGAAATAGAATGCACTTACTTTTTGATAAACAGAAAGTGGAAAAGGGTCTCTCCCTATTGTTGCTGTTTTGCTGGTGTATTCATGGATACCAGTTTCATTATCTAGGTTTTTGTATAAGACCAATTTCCACCAGGCACAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGACGGATTGCTTGAGCCTGTAAGTTTGAGAGCAGCCTGGGCAGCATAGCAAAACCCTGTCTGTACAAAAAATACAGAAATTAGCCAGGAGTAATGTTACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGA... |
Task1_train_21585 | A change on Chromosome 15 affects gene SPG21 (SPG21 abhydrolase domain containing, maspardin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Mast syndrome | TAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAACAAACAAACAAAAAAACAAACAACAACAAAAAAAACTAAAAAATATCAGAGTGCAATTTTAAGTAGATGTGAAAACGATATTTCCCTATACATTATTTGAAAACACTGATCATACAGATGTGTTTACTCACTGGGCTTTTTTTTTGAAGTAGGGTCTTGCTCTGTCA... | TAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAACAAACAAACAAAAAAACAAACAACAACAAAAAAAACTAAAAAATATCAGAGTGCAATTTTAAGTAGATGTGAAAACGATATTTCCCTATACATTATTTGAAAACACTGATCATACAGATGTGTTTACTCACTGGGCTTTTTTTTTGAAGTAGGGTCTTGCTCTGTCA... |
Task1_train_21586 | The gene MTFMT (mitochondrial methionyl-tRNA formyltransferase) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Combined oxidative phosphorylation defect type 15 | CGATCTCGGCTCACCACAACCTCCGCTTCCCGGGCTCAAGCGATTCTCCTGCCTAAGCCTCCCAAGTAGCTGGGATTACAGGCGTCTGCCACCACGCTCGACTAATTTTTGTACTGTTAGTAAAGACGGGGTTTCTCTATGTTGGTCAGTCTGGTCTCGAATTCCCGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATAACATGTGTGAGCCACCTTGCCCGGCTAAACACTCTTAAGTATGAAATATCTCACATGAACACCATATGATGCAAAATACCTAGGAAATGGAAGGAATGTAGAACACTT... | CGATCTCGGCTCACCACAACCTCCGCTTCCCGGGCTCAAGCGATTCTCCTGCCTAAGCCTCCCAAGTAGCTGGGATTACAGGCGTCTGCCACCACGCTCGACTAATTTTTGTACTGTTAGTAAAGACGGGGTTTCTCTATGTTGGTCAGTCTGGTCTCGAATTCCCGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATAACATGTGTGAGCCACCTTGCCCGGCTAAACACTCTTAAGTATGAAATATCTCACATGAACACCATATGATGCAAAATACCTAGGAAATGGAAGGAATGTAGAACACTT... |
Task1_train_21587 | The following genetic variant occurs in MTFMT (mitochondrial methionyl-tRNA formyltransferase) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; MTFMT-related disorder | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... |
Task1_train_21588 | This variant impacts the gene MTFMT (mitochondrial methionyl-tRNA formyltransferase) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; MTFMT-Related Disorders | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... |
Task1_train_21589 | This variant affects gene MTFMT (mitochondrial methionyl-tRNA formyltransferase) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Inborn genetic diseases | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... |
Task1_train_21590 | A variant was discovered on Chromosome 15, affecting MTFMT (mitochondrial methionyl-tRNA formyltransferase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; See cases | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... |
Task1_train_21591 | A variant on Chromosome 15 in gene MTFMT (mitochondrial methionyl-tRNA formyltransferase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Abnormal facial shape | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... |
Task1_train_21592 | With a mutation on Chromosome 15 in gene MTFMT (mitochondrial methionyl-tRNA formyltransferase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Short stature | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... |
Task1_train_21593 | This mutation occurs in MTFMT (mitochondrial methionyl-tRNA formyltransferase) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Decreased activity of mitochondrial complex I | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... |
Task1_train_21594 | This variant impacts the gene MTFMT (mitochondrial methionyl-tRNA formyltransferase) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Inability to walk by childhood/adolescence | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... |
Task1_train_21595 | An alteration has been detected in MTFMT (mitochondrial methionyl-tRNA formyltransferase) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cytochrome C oxidase-negative muscle fibers | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... |
Task1_train_21596 | An alteration has been detected in MTFMT (mitochondrial methionyl-tRNA formyltransferase) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Poor speech | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... |
Task1_train_21597 | Given this variant in gene MTFMT (mitochondrial methionyl-tRNA formyltransferase) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 27 | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... |
Task1_train_21598 | Assess the clinical impact of this variant on gene MTFMT (mitochondrial methionyl-tRNA formyltransferase), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Combined oxidative phosphorylation defect type 15 | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... |
Task1_train_21599 | This genomic variant is located on Chromosome 15, within the MTFMT (mitochondrial methionyl-tRNA formyltransferase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Combined oxidative phosphorylation defect type 15 | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... | CTTTCCAAAAACTTTAAGCCTGAATCCAGCCAAACCTTTAGAACTAATTATAGGAAATATAAGAGATAGGGAACAAGTTAAACAACACTGGAAGAAAACAAATCAAACAACTGGCCTGGTCTCTTCAAAAAGTCAATGACATAGAGAGAGGAAAAAAAGAGGAATTTTTTTTAGAGACTAAAGAGACATAACAACTAATTACAATTAAATCCTAGTTTGAAAAATAAAACTATAAAATAAATTTTTAGACAATTAGGAACACTTAAATATGAACTGAACATTGGATGCTATCAGGAAATTGTTCATTTTTCTTAGGAAAG... |
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