ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
|---|---|---|---|---|
Task1_train_23700 | A mutation found in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGG... | TGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGG... |
Task1_train_23701 | Gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTC... | TCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTC... |
Task1_train_23702 | The gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; ALOX12B-related disorder | TCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTC... | TCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTC... |
Task1_train_23703 | Here is a mutation in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Lamellar ichthyosis | TCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTC... | TCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTC... |
Task1_train_23704 | Here is a genetic alteration in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCT... | TCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCT... |
Task1_train_23705 | Here’s a variant in ALOX12B (arachidonate 12-lipoxygenase, 12R type) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAA... | TTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAA... |
Task1_train_23706 | This variant affects the gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not specified | TGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGT... | TGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGT... |
Task1_train_23707 | Assess the clinical impact of this variant on gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not specified | AGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAA... | AGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAA... |
Task1_train_23708 | A mutation on Chromosome 17 affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGC... | GCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGC... |
Task1_train_23709 | This mutation occurs in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | ACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGT... | ACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGT... |
Task1_train_23710 | A variant affecting Chromosome 17, within the gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGA... | TTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGA... |
Task1_train_23711 | Here’s a variant in ALOX12B (arachidonate 12-lipoxygenase, 12R type) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Lamellar ichthyosis | GCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTC... | GCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTC... |
Task1_train_23712 | The gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not specified | TACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGG... | TACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGG... |
Task1_train_23713 | Located on Chromosome 17, this mutation impacts ALOX12B (arachidonate 12-lipoxygenase, 12R type). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | CCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGA... | CCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGA... |
Task1_train_23714 | With a mutation on Chromosome 17 in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | AAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCC... | AAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCC... |
Task1_train_23715 | A mutation on Chromosome 17 affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Lamellar ichthyosis | CTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAG... | CTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAG... |
Task1_train_23716 | A genomic change on Chromosome 17 affects ALOX12B (arachidonate 12-lipoxygenase, 12R type). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; See cases | CTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAG... | CTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAG... |
Task1_train_23717 | With a mutation on Chromosome 17 in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACA... | TCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACA... |
Task1_train_23718 | A mutation on Chromosome 17 affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACC... | GTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACC... |
Task1_train_23719 | A genomic change on Chromosome 17 affects ALOX12B (arachidonate 12-lipoxygenase, 12R type). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | ACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAG... | ACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAG... |
Task1_train_23720 | A variant on Chromosome 17 in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | ACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCC... | ACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCC... |
Task1_train_23721 | Gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGAC... | GATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGAC... |
Task1_train_23722 | Here’s a variant in ALOX12B (arachidonate 12-lipoxygenase, 12R type) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | CCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCT... | CCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCT... |
Task1_train_23723 | The gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTC... | TTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTC... |
Task1_train_23724 | A variant was discovered on Chromosome 17, affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATT... | TCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATT... |
Task1_train_23725 | This genomic variant is located on Chromosome 17, within the ALOX12B, LOC130060196 (arachidonate 12-lipoxygenase, 12R type| ATAC-STARR-seq lymphoblastoid active region 11660) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATT... | GCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATT... |
Task1_train_23726 | This gene mutation involves ALOX12B, LOC130060196 (arachidonate 12-lipoxygenase, 12R type| ATAC-STARR-seq lymphoblastoid active region 11660) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | ACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGT... | ACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGT... |
Task1_train_23727 | This sequence variant lies in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAG... | TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAG... |
Task1_train_23728 | Chromosome 17 houses a mutation in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | AAACCCCATCTGTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCC... | AAACCCCATCTGTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCC... |
Task1_train_23729 | This alteration in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GGTGGCACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCC... | GGTGGCACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCC... |
Task1_train_23730 | An alteration has been detected in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TGGCACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTC... | TGGCACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTC... |
Task1_train_23731 | Here is a mutation in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACT... | TTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACT... |
Task1_train_23732 | Here is a mutation in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTG... | GCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTG... |
Task1_train_23733 | The gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | AAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAG... | AAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAG... |
Task1_train_23734 | The variant affects gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | ATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAG... | ATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAG... |
Task1_train_23735 | This variant impacts the gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | GAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAG... | GAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAG... |
Task1_train_23736 | A variant affecting Chromosome 17, within the gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAG... | GAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAG... |
Task1_train_23737 | Consider this mutation in ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal recessive congenital ichthyosis | ATAGAGCTATGTATTTGGTTCACATTTTAAAATCATGTACACAAAGGATCTGATTTAATAACTGAGACATGATGGCTCCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTT... | ATAGAGCTATGTATTTGGTTCACATTTTAAAATCATGTACACAAAGGATCTGATTTAATAACTGAGACATGATGGCTCCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTT... |
Task1_train_23738 | This sequence change occurs on Chromosome 17, altering ALOXE3 (arachidonate epidermal lipoxygenase 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive congenital ichthyosis 3 | ATAGAGCTATGTATTTGGTTCACATTTTAAAATCATGTACACAAAGGATCTGATTTAATAACTGAGACATGATGGCTCCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTT... | ATAGAGCTATGTATTTGGTTCACATTTTAAAATCATGTACACAAAGGATCTGATTTAATAACTGAGACATGATGGCTCCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTT... |
Task1_train_23739 | Here is a variant affecting ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Lamellar ichthyosis | ATAGAGCTATGTATTTGGTTCACATTTTAAAATCATGTACACAAAGGATCTGATTTAATAACTGAGACATGATGGCTCCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTT... | ATAGAGCTATGTATTTGGTTCACATTTTAAAATCATGTACACAAAGGATCTGATTTAATAACTGAGACATGATGGCTCCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTT... |
Task1_train_23740 | This variant affects gene ALOXE3 (arachidonate epidermal lipoxygenase 3) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive congenital ichthyosis 3 | CCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTGTGTCACCCAGGCTGGCGTGCAGTGGCGTGAACATGGCTCACTGCATTTTTTTACTTCCTGGGCTCAA... | CCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTGTGTCACCCAGGCTGGCGTGCAGTGGCGTGAACATGGCTCACTGCATTTTTTTACTTCCTGGGCTCAA... |
Task1_train_23741 | This sequence change occurs on Chromosome 17, altering ALOXE3 (arachidonate epidermal lipoxygenase 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive congenital ichthyosis 3 | CAGGTTTGCAAAACACAGGGAAGGGTCACCCTTTAAAAACTCCAAGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTCGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGTCCAACATGGCAAAACTGCATCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGCAGACGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGCAGAATCTCTTGAACCCAGGAGGTGGAGGTTGCAGTAAGCCGAGATTGTGCCTCCACACTCCAGCCTGGGCAACAAAGTAAGACT... | CAGGTTTGCAAAACACAGGGAAGGGTCACCCTTTAAAAACTCCAAGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTCGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGTCCAACATGGCAAAACTGCATCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGCAGACGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGCAGAATCTCTTGAACCCAGGAGGTGGAGGTTGCAGTAAGCCGAGATTGTGCCTCCACACTCCAGCCTGGGCAACAAAGTAAGACT... |
Task1_train_23742 | A genetic alteration is present in ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal recessive congenital ichthyosis 3 | AAGAGAGGTTGGTGGCTGGAGGGGCCACGTGGCAGGACAGGAAGGAGGGTTTGAGAGAAAGTTCCCAGAATCCTCTGAAGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAA... | AAGAGAGGTTGGTGGCTGGAGGGGCCACGTGGCAGGACAGGAAGGAGGGTTTGAGAGAAAGTTCCCAGAATCCTCTGAAGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAA... |
Task1_train_23743 | This variant impacts the gene ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Autosomal recessive congenital ichthyosis 3 | GGACAGGAAGGAGGGTTTGAGAGAAAGTTCCCAGAATCCTCTGAAGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTG... | GGACAGGAAGGAGGGTTTGAGAGAAAGTTCCCAGAATCCTCTGAAGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTG... |
Task1_train_23744 | The variant affects gene ALOXE3, LOC130060198 (arachidonate epidermal lipoxygenase 3| ATAC-STARR-seq lymphoblastoid silent region 8151), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not specified | AGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATA... | AGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATA... |
Task1_train_23745 | This alteration occurs within gene ALOXE3, LOC130060198 (arachidonate epidermal lipoxygenase 3| ATAC-STARR-seq lymphoblastoid silent region 8151) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal recessive congenital ichthyosis 3 | TGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTT... | TGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTT... |
Task1_train_23746 | Consider a variant on Chromosome 17 in gene ALOXE3, LOC130060198 (arachidonate epidermal lipoxygenase 3| ATAC-STARR-seq lymphoblastoid silent region 8151). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal recessive congenital ichthyosis 3 | CACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGC... | CACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGC... |
Task1_train_23747 | Here is a variant affecting ALOXE3, LOC130060198 (arachidonate epidermal lipoxygenase 3| ATAC-STARR-seq lymphoblastoid silent region 8151) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive congenital ichthyosis 3 | ACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAAT... | ACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAAT... |
Task1_train_23748 | This mutation occurs in ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not specified | TGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGC... | TGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGC... |
Task1_train_23749 | Consider this mutation in ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal recessive congenital ichthyosis 3 | GCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACC... | GCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACC... |
Task1_train_23750 | A mutation on Chromosome 17 affecting ALOXE3 (arachidonate epidermal lipoxygenase 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal recessive congenital ichthyosis 3 | GGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGG... | GGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGG... |
Task1_train_23751 | A change on Chromosome 17 affects gene ALOXE3 (arachidonate epidermal lipoxygenase 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not specified | TGAGCCAAGATCGAGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCTCAAAACAACAACAACAACAACAAAAGGAATGGAACATGGAACAAGTAGGCGTGTGGCAATAGGTCAATAACATAGGATGTATAAAGATGTGTGGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGATGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCATGGTGGCACCTGCCTGTAGTCCCAGCTAC... | TGAGCCAAGATCGAGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCTCAAAACAACAACAACAACAACAAAAGGAATGGAACATGGAACAAGTAGGCGTGTGGCAATAGGTCAATAACATAGGATGTATAAAGATGTGTGGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGATGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCATGGTGGCACCTGCCTGTAGTCCCAGCTAC... |
Task1_train_23752 | The variant affects gene ALOXE3 (arachidonate epidermal lipoxygenase 3), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal recessive congenital ichthyosis 3 | TGAGCCAAGATCGAGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCTCAAAACAACAACAACAACAACAAAAGGAATGGAACATGGAACAAGTAGGCGTGTGGCAATAGGTCAATAACATAGGATGTATAAAGATGTGTGGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGATGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCATGGTGGCACCTGCCTGTAGTCCCAGCTAC... | TGAGCCAAGATCGAGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCTCAAAACAACAACAACAACAACAAAAGGAATGGAACATGGAACAAGTAGGCGTGTGGCAATAGGTCAATAACATAGGATGTATAAAGATGTGTGGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGATGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCATGGTGGCACCTGCCTGTAGTCCCAGCTAC... |
Task1_train_23753 | This alteration in ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TGAGCCAAGATCGAGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCTCAAAACAACAACAACAACAACAAAAGGAATGGAACATGGAACAAGTAGGCGTGTGGCAATAGGTCAATAACATAGGATGTATAAAGATGTGTGGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGATGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCATGGTGGCACCTGCCTGTAGTCCCAGCTAC... | TGAGCCAAGATCGAGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCTCAAAACAACAACAACAACAACAAAAGGAATGGAACATGGAACAAGTAGGCGTGTGGCAATAGGTCAATAACATAGGATGTATAAAGATGTGTGGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGATGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCATGGTGGCACCTGCCTGTAGTCCCAGCTAC... |
Task1_train_23754 | Mutation context: Chromosome 17, Gene ALOXE3 (arachidonate epidermal lipoxygenase 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autosomal recessive congenital ichthyosis 3 | TTGTCCCCTGTGCCAGACCCTTTGGGGCCATCTCCCATCCTGATGCTTGAATGAAACTGCATTGTCATAGACCCCTACCCCTCCTTCCTGGCTATCAGGACCCCATCCTCCCGACAGACCTTCCACTTGACTTCCTTTCCCCTCCTTCCCAAGCTTTAATCTTCACCTGTCACCCTGGTCTACACAAGTTGTCGTCTTTGTCAAGGCAAATTTCTTGTCTGACTCCATCTCCTGAAAGCTGTTGACGTCTACCATGCAGGGGAAGCCAGGGGCATAGATCTTCCAGCTTCCGAGGGAAAGAGGTCAGAGGTGGCAGGTCA... | TTGTCCCCTGTGCCAGACCCTTTGGGGCCATCTCCCATCCTGATGCTTGAATGAAACTGCATTGTCATAGACCCCTACCCCTCCTTCCTGGCTATCAGGACCCCATCCTCCCGACAGACCTTCCACTTGACTTCCTTTCCCCTCCTTCCCAAGCTTTAATCTTCACCTGTCACCCTGGTCTACACAAGTTGTCGTCTTTGTCAAGGCAAATTTCTTGTCTGACTCCATCTCCTGAAAGCTGTTGACGTCTACCATGCAGGGGAAGCCAGGGGCATAGATCTTCCAGCTTCCGAGGGAAAGAGGTCAGAGGTGGCAGGTCA... |
Task1_train_23755 | A variant on Chromosome 17 in gene HES7, LOC130060203 (hes family bHLH transcription factor 7| ATAC-STARR-seq lymphoblastoid silent region 8155) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Spondylocostal dysostosis 4, autosomal recessive | ATCCAACAGCAGACTTTGTTTTGTTTTCGTTTTAAGTGACGGGTGTGGAAGACACGCAAAATAGAATGTCCAGTAATGTACACAATCTTGAAAGACACCACGAGGGAGGTTCCATGGTGTAATGGTTAGCACTCTGGACTCTGAATCCAGCGATCCGAGTTCAAATCTCGGTGGAACCTTGAAGCTTTTCTTTTAATATCAGCATGTTGAATATTGTTAATTGATTTTCACAGAGGGGATACTCCTATGACCCAAGATAATACGACAAAAAAAAAAAGTAAACTAGGACACTACCAATTATTTGTGCTTTTCCTACCGGA... | ATCCAACAGCAGACTTTGTTTTGTTTTCGTTTTAAGTGACGGGTGTGGAAGACACGCAAAATAGAATGTCCAGTAATGTACACAATCTTGAAAGACACCACGAGGGAGGTTCCATGGTGTAATGGTTAGCACTCTGGACTCTGAATCCAGCGATCCGAGTTCAAATCTCGGTGGAACCTTGAAGCTTTTCTTTTAATATCAGCATGTTGAATATTGTTAATTGATTTTCACAGAGGGGATACTCCTATGACCCAAGATAATACGACAAAAAAAAAAAGTAAACTAGGACACTACCAATTATTTGTGCTTTTCCTACCGGA... |
Task1_train_23756 | A change on Chromosome 17 affects gene HES7 (hes family bHLH transcription factor 7). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Spondylocostal dysostosis 4, autosomal recessive | AGACTGGAGCCTAAATCCAGCGCCTTAGACCGCTCGGCCACGCTACCTGCACGAAAACTTACTGTCCCCGTTGTCCTCCTAAGAGACTAGAAGTAAGGAATGGGGCAAATCTTAAGAGTGCCAAATTGATTCGTCTCCTTTTCCACATCTTTTAGACTGGAAATGAAGAACCATCGAGACTGTGGACCGCATAGCAGCAGATGGCAGAACAGATAAACGAGAAGAGACAAAAACACACAGAAATTTACAACAAAACTAGTTTATTTGGGTGGGACTATATCTGGGAGTGGGGAGCGCCTGAGCCGGAAACACCCCCCAAG... | AGACTGGAGCCTAAATCCAGCGCCTTAGACCGCTCGGCCACGCTACCTGCACGAAAACTTACTGTCCCCGTTGTCCTCCTAAGAGACTAGAAGTAAGGAATGGGGCAAATCTTAAGAGTGCCAAATTGATTCGTCTCCTTTTCCACATCTTTTAGACTGGAAATGAAGAACCATCGAGACTGTGGACCGCATAGCAGCAGATGGCAGAACAGATAAACGAGAAGAGACAAAAACACACAGAAATTTACAACAAAACTAGTTTATTTGGGTGGGACTATATCTGGGAGTGGGGAGCGCCTGAGCCGGAAACACCCCCCAAG... |
Task1_train_23757 | The following genetic variant occurs in HES7 (hes family bHLH transcription factor 7) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Spondylocostal dysostosis 4, autosomal recessive | TCTTAAAGGCCCCCATCCCTTCTCCCCCTACCCTATCTCTCTCTTTCCACCTGGTTTCAATTTCGATCTCAGTTCCCGCTCTGCTCTCTTCTTTACTTACCTGTCTGCCCCGGGGCTTGGGCCATGGAGAGCAGGACTGAGGGTGGGAGACAGAAGGGAAGGGAAAGTGGGCGTGGACGTCGAGATAAAGGCAGGCCCCTGGCTCGGGGACACACGGGGATTTAATAACCACTTTATTCCATGCACTAGGGACTCGGGAAGGGACTGGGACTGGGCTGAGGGGCAGAGAGAGTACAATCCTAGACGCAAGGGAGAAGTTG... | TCTTAAAGGCCCCCATCCCTTCTCCCCCTACCCTATCTCTCTCTTTCCACCTGGTTTCAATTTCGATCTCAGTTCCCGCTCTGCTCTCTTCTTTACTTACCTGTCTGCCCCGGGGCTTGGGCCATGGAGAGCAGGACTGAGGGTGGGAGACAGAAGGGAAGGGAAAGTGGGCGTGGACGTCGAGATAAAGGCAGGCCCCTGGCTCGGGGACACACGGGGATTTAATAACCACTTTATTCCATGCACTAGGGACTCGGGAAGGGACTGGGACTGGGCTGAGGGGCAGAGAGAGTACAATCCTAGACGCAAGGGAGAAGTTG... |
Task1_train_23758 | Gene VAMP2 (vesicle associated membrane protein 2) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | TGGGCAGTGATGGGGCAACACCCCCCAAATTGGGGAGGAGGGTTTTCAGTCCAACCCCCAGCAGGGGTGAGGCCAGAGATTTCAGGCAGGAATTGGGGGGATTCTCTGCCCTGCCCCACTCCTCCCCAAGGCAGTGATGACCCCCACACACACACTGGTAGCCACCCCTCTCACAAGAGATCAATTGTGGCCAACCCCCAACTCTCCTGGTGGGAGGAGGAGGTGGATCAGGCAGATGGGAGGGAAACCCCATGGGAATGTCAGTTGAGTACCCCACATGAAAACTGGGGAGCAGGAATGTAGGGAGAAACCCGAAGTGG... | TGGGCAGTGATGGGGCAACACCCCCCAAATTGGGGAGGAGGGTTTTCAGTCCAACCCCCAGCAGGGGTGAGGCCAGAGATTTCAGGCAGGAATTGGGGGGATTCTCTGCCCTGCCCCACTCCTCCCCAAGGCAGTGATGACCCCCACACACACACTGGTAGCCACCCCTCTCACAAGAGATCAATTGTGGCCAACCCCCAACTCTCCTGGTGGGAGGAGGAGGTGGATCAGGCAGATGGGAGGGAAACCCCATGGGAATGTCAGTTGAGTACCCCACATGAAAACTGGGGAGCAGGAATGTAGGGAGAAACCCGAAGTGG... |
Task1_train_23759 | The gene VAMP2 (vesicle associated membrane protein 2) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | GCAGTGATGGGGCAACACCCCCCAAATTGGGGAGGAGGGTTTTCAGTCCAACCCCCAGCAGGGGTGAGGCCAGAGATTTCAGGCAGGAATTGGGGGGATTCTCTGCCCTGCCCCACTCCTCCCCAAGGCAGTGATGACCCCCACACACACACTGGTAGCCACCCCTCTCACAAGAGATCAATTGTGGCCAACCCCCAACTCTCCTGGTGGGAGGAGGAGGTGGATCAGGCAGATGGGAGGGAAACCCCATGGGAATGTCAGTTGAGTACCCCACATGAAAACTGGGGAGCAGGAATGTAGGGAGAAACCCGAAGTGGCAG... | GCAGTGATGGGGCAACACCCCCCAAATTGGGGAGGAGGGTTTTCAGTCCAACCCCCAGCAGGGGTGAGGCCAGAGATTTCAGGCAGGAATTGGGGGGATTCTCTGCCCTGCCCCACTCCTCCCCAAGGCAGTGATGACCCCCACACACACACTGGTAGCCACCCCTCTCACAAGAGATCAATTGTGGCCAACCCCCAACTCTCCTGGTGGGAGGAGGAGGTGGATCAGGCAGATGGGAGGGAAACCCCATGGGAATGTCAGTTGAGTACCCCACATGAAAACTGGGGAGCAGGAATGTAGGGAGAAACCCGAAGTGGCAG... |
Task1_train_23760 | Here is a mutation in VAMP2 (vesicle associated membrane protein 2) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | TGGGGCAACACCCCCCAAATTGGGGAGGAGGGTTTTCAGTCCAACCCCCAGCAGGGGTGAGGCCAGAGATTTCAGGCAGGAATTGGGGGGATTCTCTGCCCTGCCCCACTCCTCCCCAAGGCAGTGATGACCCCCACACACACACTGGTAGCCACCCCTCTCACAAGAGATCAATTGTGGCCAACCCCCAACTCTCCTGGTGGGAGGAGGAGGTGGATCAGGCAGATGGGAGGGAAACCCCATGGGAATGTCAGTTGAGTACCCCACATGAAAACTGGGGAGCAGGAATGTAGGGAGAAACCCGAAGTGGCAGAATTATT... | TGGGGCAACACCCCCCAAATTGGGGAGGAGGGTTTTCAGTCCAACCCCCAGCAGGGGTGAGGCCAGAGATTTCAGGCAGGAATTGGGGGGATTCTCTGCCCTGCCCCACTCCTCCCCAAGGCAGTGATGACCCCCACACACACACTGGTAGCCACCCCTCTCACAAGAGATCAATTGTGGCCAACCCCCAACTCTCCTGGTGGGAGGAGGAGGTGGATCAGGCAGATGGGAGGGAAACCCCATGGGAATGTCAGTTGAGTACCCCACATGAAAACTGGGGAGCAGGAATGTAGGGAGAAACCCGAAGTGGCAGAATTATT... |
Task1_train_23761 | Consider this mutation in VAMP2 (vesicle associated membrane protein 2) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | AGGCAGGGCAGACTCCTCGGGGATTTAAGTGCTGAAGTAAACTGTGGAGAGAGGGGAAGAAGATGAGGAAGAGGGAGAGGGGAGAGAAAGAGAGAGAACAAGAAAGCAGTGTGTCAGGCCTGGCCCTGCTCCAATCCTCCCCACTCCCCAGCTGGCTGACACCCTCTCTTGGACTCAGTTTTTCCATCTACAAAGCAAGGGGCTAGACAGGTAGGTTCTGAGGTCCCTTCCGCTCCATGGTATGGCCTTGAAGCCACAGACCCTAATCCTCTGAGCCTCTGAGACCGCAAGCTCTCAAATAATGGGGTGGTTGGCTTCCT... | AGGCAGGGCAGACTCCTCGGGGATTTAAGTGCTGAAGTAAACTGTGGAGAGAGGGGAAGAAGATGAGGAAGAGGGAGAGGGGAGAGAAAGAGAGAGAACAAGAAAGCAGTGTGTCAGGCCTGGCCCTGCTCCAATCCTCCCCACTCCCCAGCTGGCTGACACCCTCTCTTGGACTCAGTTTTTCCATCTACAAAGCAAGGGGCTAGACAGGTAGGTTCTGAGGTCCCTTCCGCTCCATGGTATGGCCTTGAAGCCACAGACCCTAATCCTCTGAGCCTCTGAGACCGCAAGCTCTCAAATAATGGGGTGGTTGGCTTCCT... |
Task1_train_23762 | A genetic alteration is present in LOC105371520, TMEM107 (uncharacterized LOC105371520| transmembrane protein 107) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | GTTGTTTTTTTTTTATTCAGTAGTTCAGCCATCTCAATTGTCCCCTAAAACTGTATATAAGTCTTAATGTTACTACAAAACATATTTTATTACAAAGCACTAAATACAATGCGGATAATCCCAGACTCAAGACGTAATTATTCCAACACATATCCTCCAGCAGAAGCAGTTTCCGAGGGGAAAACCGAAGCCTATGCCTTCCTTCTTCCAGGAATACGAAGCGGCCCTTGCCCCTGTAGGCTTCGTCCTTAGGTTCCCGTCATGAAGGTAATCAGAAGGGTTTCTTTTTCAGCCCAAAGACGGTGACGAATAAAGCCATT... | GTTGTTTTTTTTTTATTCAGTAGTTCAGCCATCTCAATTGTCCCCTAAAACTGTATATAAGTCTTAATGTTACTACAAAACATATTTTATTACAAAGCACTAAATACAATGCGGATAATCCCAGACTCAAGACGTAATTATTCCAACACATATCCTCCAGCAGAAGCAGTTTCCGAGGGGAAAACCGAAGCCTATGCCTTCCTTCTTCCAGGAATACGAAGCGGCCCTTGCCCCTGTAGGCTTCGTCCTTAGGTTCCCGTCATGAAGGTAATCAGAAGGGTTTCTTTTTCAGCCCAAAGACGGTGACGAATAAAGCCATT... |
Task1_train_23763 | The gene CTC1 (CST telomere replication complex component 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cerebroretinal microangiopathy with calcifications and cysts 1 | GGGTGCCGACTGGATCATCCCATCCTGGAGAGAAATATGGTCAGTATGCTGAAGAAAAAAATATGACGTAGTCGGCAGGATTCGAACCTGCGCGGGGAGACCCCAATGGATTTCTAGTCCATCGCCTTAACCACTCGGCCACGACTACGAGGCTTAGGGCTTCGTTTTCATCCAATGCCTTTCTTACTTCCCTTGACTGACAAACATCTGCCTCCATGAAAGCGCTTCAGGGAAAAAAAGACGCGGCGGTTGCACGTGAACCTTCCTTTCACCCGGGTGCCCAGAGACTCCTCCCTCCAAGCCTTCGGGAGCGCTAGTGA... | GGGTGCCGACTGGATCATCCCATCCTGGAGAGAAATATGGTCAGTATGCTGAAGAAAAAAATATGACGTAGTCGGCAGGATTCGAACCTGCGCGGGGAGACCCCAATGGATTTCTAGTCCATCGCCTTAACCACTCGGCCACGACTACGAGGCTTAGGGCTTCGTTTTCATCCAATGCCTTTCTTACTTCCCTTGACTGACAAACATCTGCCTCCATGAAAGCGCTTCAGGGAAAAAAAGACGCGGCGGTTGCACGTGAACCTTCCTTTCACCCGGGTGCCCAGAGACTCCTCCCTCCAAGCCTTCGGGAGCGCTAGTGA... |
Task1_train_23764 | Here is a variant affecting CTC1 (CST telomere replication complex component 1) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Cerebroretinal microangiopathy with calcifications and cysts 1 | TCAGCTCCTGCGACAAAGTCAGAACCCAGGTGCTCAGGGCCGCCTGTGAATGCAGGTGCCTTGTCCCAATCAGAGGACATATTAATAGGGCCATGATTTCCTGTTGCCACAATTTTGCCAAGGCAGGCTGGCACCAGAACACCAAAGAAGGGAAATTATAGTGGAGTAGCAGTTTGTGAATCTGGAGTCCTTGGTTCAATCACAGAACAAGTAGGGAGAGGAGCCAGGACCTAGGCCTTCAGGTTTTCAGCAAGGAAGGACTCTCAGGCCATCCTTGCAGTTCAGTTAACAGGAGGAAGCAAGGATCCCCAGAGAGCTGG... | TCAGCTCCTGCGACAAAGTCAGAACCCAGGTGCTCAGGGCCGCCTGTGAATGCAGGTGCCTTGTCCCAATCAGAGGACATATTAATAGGGCCATGATTTCCTGTTGCCACAATTTTGCCAAGGCAGGCTGGCACCAGAACACCAAAGAAGGGAAATTATAGTGGAGTAGCAGTTTGTGAATCTGGAGTCCTTGGTTCAATCACAGAACAAGTAGGGAGAGGAGCCAGGACCTAGGCCTTCAGGTTTTCAGCAAGGAAGGACTCTCAGGCCATCCTTGCAGTTCAGTTAACAGGAGGAAGCAAGGATCCCCAGAGAGCTGG... |
Task1_train_23765 | A variant found in Chromosome 17 affects CTC1 (CST telomere replication complex component 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Dyskeratosis congenita | TCAGCTCCTGCGACAAAGTCAGAACCCAGGTGCTCAGGGCCGCCTGTGAATGCAGGTGCCTTGTCCCAATCAGAGGACATATTAATAGGGCCATGATTTCCTGTTGCCACAATTTTGCCAAGGCAGGCTGGCACCAGAACACCAAAGAAGGGAAATTATAGTGGAGTAGCAGTTTGTGAATCTGGAGTCCTTGGTTCAATCACAGAACAAGTAGGGAGAGGAGCCAGGACCTAGGCCTTCAGGTTTTCAGCAAGGAAGGACTCTCAGGCCATCCTTGCAGTTCAGTTAACAGGAGGAAGCAAGGATCCCCAGAGAGCTGG... | TCAGCTCCTGCGACAAAGTCAGAACCCAGGTGCTCAGGGCCGCCTGTGAATGCAGGTGCCTTGTCCCAATCAGAGGACATATTAATAGGGCCATGATTTCCTGTTGCCACAATTTTGCCAAGGCAGGCTGGCACCAGAACACCAAAGAAGGGAAATTATAGTGGAGTAGCAGTTTGTGAATCTGGAGTCCTTGGTTCAATCACAGAACAAGTAGGGAGAGGAGCCAGGACCTAGGCCTTCAGGTTTTCAGCAAGGAAGGACTCTCAGGCCATCCTTGCAGTTCAGTTAACAGGAGGAAGCAAGGATCCCCAGAGAGCTGG... |
Task1_train_23766 | An alteration has been detected in CTC1 (CST telomere replication complex component 1) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Dyskeratosis congenita | ACTCCCGCTGCGGTCAGCCTTCATCTCCCATGAGCTCCACTCAGTCTTGCTGTGGGCTGGGTGGCTCCTGGATGAACAGACATGGCTGAGGCTTCTCACCGGGTCGCCTGAGATCACCCCAGCCCCAGATCTGTGCTTCAGCTATCTCCTCCTCCAGCTGAAAGGCCCTTCTGTGAAGGAGATGCTCTGGCCACAACTCCTCCTCACAGTGCCCAAGACTCTACTCCTTTTTATTTAAGCTTCTGTCCAAGTTATCCTTAGCAAAAGTGCCCCCTAACACACACTTTTAATTTCTATATTTCTATATAACCACCCTGCTG... | ACTCCCGCTGCGGTCAGCCTTCATCTCCCATGAGCTCCACTCAGTCTTGCTGTGGGCTGGGTGGCTCCTGGATGAACAGACATGGCTGAGGCTTCTCACCGGGTCGCCTGAGATCACCCCAGCCCCAGATCTGTGCTTCAGCTATCTCCTCCTCCAGCTGAAAGGCCCTTCTGTGAAGGAGATGCTCTGGCCACAACTCCTCCTCACAGTGCCCAAGACTCTACTCCTTTTTATTTAAGCTTCTGTCCAAGTTATCCTTAGCAAAAGTGCCCCCTAACACACACTTTTAATTTCTATATTTCTATATAACCACCCTGCTG... |
Task1_train_23767 | A variant has been detected on Chromosome 17 in CTC1 (CST telomere replication complex component 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Cerebroretinal microangiopathy with calcifications and cysts 1 | ACTCCCGCTGCGGTCAGCCTTCATCTCCCATGAGCTCCACTCAGTCTTGCTGTGGGCTGGGTGGCTCCTGGATGAACAGACATGGCTGAGGCTTCTCACCGGGTCGCCTGAGATCACCCCAGCCCCAGATCTGTGCTTCAGCTATCTCCTCCTCCAGCTGAAAGGCCCTTCTGTGAAGGAGATGCTCTGGCCACAACTCCTCCTCACAGTGCCCAAGACTCTACTCCTTTTTATTTAAGCTTCTGTCCAAGTTATCCTTAGCAAAAGTGCCCCCTAACACACACTTTTAATTTCTATATTTCTATATAACCACCCTGCTG... | ACTCCCGCTGCGGTCAGCCTTCATCTCCCATGAGCTCCACTCAGTCTTGCTGTGGGCTGGGTGGCTCCTGGATGAACAGACATGGCTGAGGCTTCTCACCGGGTCGCCTGAGATCACCCCAGCCCCAGATCTGTGCTTCAGCTATCTCCTCCTCCAGCTGAAAGGCCCTTCTGTGAAGGAGATGCTCTGGCCACAACTCCTCCTCACAGTGCCCAAGACTCTACTCCTTTTTATTTAAGCTTCTGTCCAAGTTATCCTTAGCAAAAGTGCCCCCTAACACACACTTTTAATTTCTATATTTCTATATAACCACCCTGCTG... |
Task1_train_23768 | The gene PFAS, CTC1 (phosphoribosylformylglycinamidine synthase| CST telomere replication complex component 1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Dyskeratosis congenita | TTAGCCTGGGAAGGTTGAGACCCGCCTGGGCAACATGGTGAAACTCTAAAACAATTCAAAATTAGCTGGGTTAGCCTGGCGTGGTAGCACACGCCAGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGAGGTTGAGGCTGCAGTGAGCCATGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGTAAGACCTTGTTTCAAAAAAAAAAAAAAAAAAAAAAAGGAGGGAGGAAGAGGAAGATCCAGATTAATACAGGCTGAAGTTTAAGAACACAATATGCTTTCCCACAATTATCTCA... | TTAGCCTGGGAAGGTTGAGACCCGCCTGGGCAACATGGTGAAACTCTAAAACAATTCAAAATTAGCTGGGTTAGCCTGGCGTGGTAGCACACGCCAGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGAGGTTGAGGCTGCAGTGAGCCATGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGTAAGACCTTGTTTCAAAAAAAAAAAAAAAAAAAAAAAGGAGGGAGGAAGAGGAAGATCCAGATTAATACAGGCTGAAGTTTAAGAACACAATATGCTTTCCCACAATTATCTCA... |
Task1_train_23769 | This alteration occurs within gene CTC1, PFAS (CST telomere replication complex component 1| phosphoribosylformylglycinamidine synthase) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Dyskeratosis congenita | TAGCCTGGGAAGGTTGAGACCCGCCTGGGCAACATGGTGAAACTCTAAAACAATTCAAAATTAGCTGGGTTAGCCTGGCGTGGTAGCACACGCCAGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGAGGTTGAGGCTGCAGTGAGCCATGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGTAAGACCTTGTTTCAAAAAAAAAAAAAAAAAAAAAAAGGAGGGAGGAAGAGGAAGATCCAGATTAATACAGGCTGAAGTTTAAGAACACAATATGCTTTCCCACAATTATCTCAA... | TAGCCTGGGAAGGTTGAGACCCGCCTGGGCAACATGGTGAAACTCTAAAACAATTCAAAATTAGCTGGGTTAGCCTGGCGTGGTAGCACACGCCAGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGAGGTTGAGGCTGCAGTGAGCCATGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGTAAGACCTTGTTTCAAAAAAAAAAAAAAAAAAAAAAAGGAGGGAGGAAGAGGAAGATCCAGATTAATACAGGCTGAAGTTTAAGAACACAATATGCTTTCCCACAATTATCTCAA... |
Task1_train_23770 | Here’s a variant in MYH10 (myosin heavy chain 10) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Wide nose | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... |
Task1_train_23771 | An alteration has been detected in MYH10 (myosin heavy chain 10) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Epicanthus inversus | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... |
Task1_train_23772 | Consider a variant on Chromosome 17 in gene MYH10 (myosin heavy chain 10). Determine its clinical classification and disease relevance. | Pathogenic; Hypertelorism | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... |
Task1_train_23773 | Consider a variant on Chromosome 17 in gene MYH10 (myosin heavy chain 10). Determine its clinical classification and disease relevance. | Pathogenic; Abnormal facial shape | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... |
Task1_train_23774 | Assess the clinical impact of this variant on gene MYH10 (myosin heavy chain 10), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital ptosis | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... |
Task1_train_23775 | Consider this mutation in MYH10 (myosin heavy chain 10) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Midface retrusion | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... |
Task1_train_23776 | A variant found in Chromosome 17 affects MYH10 (myosin heavy chain 10). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Congenital ocular coloboma | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... |
Task1_train_23777 | Assess the clinical impact of this variant on gene MYH10 (myosin heavy chain 10), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Wide nose | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... |
Task1_train_23778 | Here is a mutation in MYH10 (myosin heavy chain 10) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Epicanthus inversus | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... |
Task1_train_23779 | An alteration has been detected in MYH10 (myosin heavy chain 10) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hypertelorism | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... |
Task1_train_23780 | A genetic alteration is present in MYH10 (myosin heavy chain 10) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Abnormal facial shape | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... |
Task1_train_23781 | The following genetic variant occurs in MYH10 (myosin heavy chain 10) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Congenital ptosis | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... |
Task1_train_23782 | Consider this mutation in MYH10 (myosin heavy chain 10) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Midface retrusion | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATT... |
Task1_train_23783 | The variant affects gene NTN1 (netrin 1), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Mirror movements 4 | GGTTGCCATGGCAGCCATTCTTTGGAGCCCTCAGACTGGAGTGCAAAGTTCAGGATGCCCAGGAACAGCTGAAATGAAAATACGGGAAAATCCGCTTCCCTCACCCTGGAAGGATGACTCGGTTGGCATTCAGTGCTCTCCTGCACTCGGCTGTCCCTGCCCTCCCCATCCCCTGGTCCATGTGTGGGTGCAGGGGGGTGCCCTCGGAGTGCAGGAGCAGAGTGGCCCCCAGAGACGTTGACAGAAGCCAGCCAGCATAGGAGGGCAGGCTCAGCTGGGGTGGTTCCATTGTCTGGAGTGGTAAGTGGGGAAGTGATGAC... | GGTTGCCATGGCAGCCATTCTTTGGAGCCCTCAGACTGGAGTGCAAAGTTCAGGATGCCCAGGAACAGCTGAAATGAAAATACGGGAAAATCCGCTTCCCTCACCCTGGAAGGATGACTCGGTTGGCATTCAGTGCTCTCCTGCACTCGGCTGTCCCTGCCCTCCCCATCCCCTGGTCCATGTGTGGGTGCAGGGGGGTGCCCTCGGAGTGCAGGAGCAGAGTGGCCCCCAGAGACGTTGACAGAAGCCAGCCAGCATAGGAGGGCAGGCTCAGCTGGGGTGGTTCCATTGTCTGGAGTGGTAAGTGGGGAAGTGATGAC... |
Task1_train_23784 | Here is a variant affecting NTN1 (netrin 1) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Mirror movements 4 | GTTGCCATGGCAGCCATTCTTTGGAGCCCTCAGACTGGAGTGCAAAGTTCAGGATGCCCAGGAACAGCTGAAATGAAAATACGGGAAAATCCGCTTCCCTCACCCTGGAAGGATGACTCGGTTGGCATTCAGTGCTCTCCTGCACTCGGCTGTCCCTGCCCTCCCCATCCCCTGGTCCATGTGTGGGTGCAGGGGGGTGCCCTCGGAGTGCAGGAGCAGAGTGGCCCCCAGAGACGTTGACAGAAGCCAGCCAGCATAGGAGGGCAGGCTCAGCTGGGGTGGTTCCATTGTCTGGAGTGGTAAGTGGGGAAGTGATGACT... | GTTGCCATGGCAGCCATTCTTTGGAGCCCTCAGACTGGAGTGCAAAGTTCAGGATGCCCAGGAACAGCTGAAATGAAAATACGGGAAAATCCGCTTCCCTCACCCTGGAAGGATGACTCGGTTGGCATTCAGTGCTCTCCTGCACTCGGCTGTCCCTGCCCTCCCCATCCCCTGGTCCATGTGTGGGTGCAGGGGGGTGCCCTCGGAGTGCAGGAGCAGAGTGGCCCCCAGAGACGTTGACAGAAGCCAGCCAGCATAGGAGGGCAGGCTCAGCTGGGGTGGTTCCATTGTCTGGAGTGGTAAGTGGGGAAGTGATGACT... |
Task1_train_23785 | Given this variant in gene CFAP52 (cilia and flagella associated protein 52) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | ATCTTAGCGCTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTGGAGTTTGAGGCCAGCCTGGGCAGCATAGAAATACCCTATTTCTGTGAAAAGTTTTTAAAAATTAGCCGGCGTGGTGGCATGCATCTATAGTCCTGGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTCATCCCGGGAGTTCGTGGTTACAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGTGGCAGAGACCCTGTCTCCAAAATACACACACACACACACACACGAACATGCAAATACAAAAATGGTATCTGTCAATAAATGCTGAT... | ATCTTAGCGCTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTGGAGTTTGAGGCCAGCCTGGGCAGCATAGAAATACCCTATTTCTGTGAAAAGTTTTTAAAAATTAGCCGGCGTGGTGGCATGCATCTATAGTCCTGGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTCATCCCGGGAGTTCGTGGTTACAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGTGGCAGAGACCCTGTCTCCAAAATACACACACACACACACACACGAACATGCAAATACAAAAATGGTATCTGTCAATAAATGCTGAT... |
Task1_train_23786 | This gene mutation involves MYH8, MYHAS (myosin heavy chain 8| myosin heavy chain gene cluster antisense RNA) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hecht syndrome | AGAGTGACTTTAGGGGTGAATATTTTGAATGTATGATCAGCACATACCATTTGACATATGACAGTATTAGTGATTTGAGGGTGGGCATGGTGATTGCATGTTGATTGTGCTGCCTGTCTGTGGGCATATGGATGAGAACTGTGAAATGACATAGGTTGCCTTCTGAATGGCCCACCTAAACTGAGCGAATGATTTGTCATCTCTTCCTTGAAGTTGCTCCTCTTATTTTGAACAACACTGAATTATCCACTCTATAAACTTTTTTTGCTAGCTTCTTCAGATAATACACTGGCTTATCTCAAATTCTTTCAAGTGCCTCA... | AGAGTGACTTTAGGGGTGAATATTTTGAATGTATGATCAGCACATACCATTTGACATATGACAGTATTAGTGATTTGAGGGTGGGCATGGTGATTGCATGTTGATTGTGCTGCCTGTCTGTGGGCATATGGATGAGAACTGTGAAATGACATAGGTTGCCTTCTGAATGGCCCACCTAAACTGAGCGAATGATTTGTCATCTCTTCCTTGAAGTTGCTCCTCTTATTTTGAACAACACTGAATTATCCACTCTATAAACTTTTTTTGCTAGCTTCTTCAGATAATACACTGGCTTATCTCAAATTCTTTCAAGTGCCTCA... |
Task1_train_23787 | The gene MYH2, MYHAS (myosin heavy chain 2| myosin heavy chain gene cluster antisense RNA) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Myopathy, proximal, and ophthalmoplegia | ACATGGCTTCAGGAAAGAGAAAAGACAAGACCAGTCTAAGGATATTGTTTGCAAACTACCCTATGCTTTATTTCCTTTGCAACAGGGTAGAATACACAATAATTACAGAGGGAAATGACCAAAGATGTCACATTTTGTGCCTGTCTTCAGTCATTCCATGGCATCAGGACATGATCACTCTTCACTTATGACTTTTGTGTGAACCTCCCGGCTCTTCACCCGCAGTTTGTTCACCTGGGACTCAGCAATGTCAGCCCGTTCCTCGGCCTCCTCCAGCTCATGCTGGAGCTTGCGGAATTTAGCTAGATTGGTGTTGGATT... | ACATGGCTTCAGGAAAGAGAAAAGACAAGACCAGTCTAAGGATATTGTTTGCAAACTACCCTATGCTTTATTTCCTTTGCAACAGGGTAGAATACACAATAATTACAGAGGGAAATGACCAAAGATGTCACATTTTGTGCCTGTCTTCAGTCATTCCATGGCATCAGGACATGATCACTCTTCACTTATGACTTTTGTGTGAACCTCCCGGCTCTTCACCCGCAGTTTGTTCACCTGGGACTCAGCAATGTCAGCCCGTTCCTCGGCCTCCTCCAGCTCATGCTGGAGCTTGCGGAATTTAGCTAGATTGGTGTTGGATT... |
Task1_train_23788 | This mutation occurs in MYH2, MYHAS (myosin heavy chain 2| myosin heavy chain gene cluster antisense RNA) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Myopathy, proximal, and ophthalmoplegia | TCTCAAGTTTTTACCCATGCAATCAGATGGTGATGGTTCCTTCCTTAAGTTTTCTGGTACATGTGTATTCCCACTTCATTATAGGACTCTTATTCATTTCTTCTTTAGTGTCCTTATCATAAGCTGAGTCTTAACTGTAAGCCATTTCAAATATGTTTTTGAAGATGGAATATGTGAATAAACATATTTTTTATACCTTCTCTCCACCATCCTCTGGTACTCCACTCTTGCCAAGAACCCTCTGCACCTGGCCTGGGTTCGGGTAATCAGCTGGGCCAGCTTGTCATCTCGCATCTCCTCTAGGAGCCCCAGAAGACCAG... | TCTCAAGTTTTTACCCATGCAATCAGATGGTGATGGTTCCTTCCTTAAGTTTTCTGGTACATGTGTATTCCCACTTCATTATAGGACTCTTATTCATTTCTTCTTTAGTGTCCTTATCATAAGCTGAGTCTTAACTGTAAGCCATTTCAAATATGTTTTTGAAGATGGAATATGTGAATAAACATATTTTTTATACCTTCTCTCCACCATCCTCTGGTACTCCACTCTTGCCAAGAACCCTCTGCACCTGGCCTGGGTTCGGGTAATCAGCTGGGCCAGCTTGTCATCTCGCATCTCCTCTAGGAGCCCCAGAAGACCAG... |
Task1_train_23789 | Consider this mutation in LOC126862501, MYH2, MYHAS (CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:10446256-10447455| myosin heavy chain 2| myosin heavy chain gene cluster antisense RNA) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Myopathy, proximal, and ophthalmoplegia | GGGGCATCACAGAATCTGCCGACATGTGATGTCTCCCCCAGATACCCAGCTTTAAAATTTCTCTCTTTTGTACTCTTTCCCTTTATTTCTCAGACCAGCCAGCACTTAGGAAATAGAAAAGAACCTATGTGAAATAACATTGAATTATTGGGGGTGGGTTCCCCCGATATCACATGATGCTTTGTTGATGACTGATGGGCACTGGAGAGGCGTTTAAAGGATATTAGGCACCATCGCAAACACCTTGAAGTTGATGTCATGGTGCTCTTATAAATCCTTATTAAAAAATAAAATGGCCGGGCACAGTGTCTCATGCCCAT... | GGGGCATCACAGAATCTGCCGACATGTGATGTCTCCCCCAGATACCCAGCTTTAAAATTTCTCTCTTTTGTACTCTTTCCCTTTATTTCTCAGACCAGCCAGCACTTAGGAAATAGAAAAGAACCTATGTGAAATAACATTGAATTATTGGGGGTGGGTTCCCCCGATATCACATGATGCTTTGTTGATGACTGATGGGCACTGGAGAGGCGTTTAAAGGATATTAGGCACCATCGCAAACACCTTGAAGTTGATGTCATGGTGCTCTTATAAATCCTTATTAAAAAATAAAATGGCCGGGCACAGTGTCTCATGCCCAT... |
Task1_train_23790 | An alteration has been detected in MYH3 (myosin heavy chain 3) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | GCCACATTTTCTAGGCGAAAACTCCAAATAACATTCCCTTAAACTTTTTTTTTTTTTGAGACAGAGTTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCATGCCTCGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGTTGACAGGC... | GCCACATTTTCTAGGCGAAAACTCCAAATAACATTCCCTTAAACTTTTTTTTTTTTTGAGACAGAGTTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCATGCCTCGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGTTGACAGGC... |
Task1_train_23791 | Located on Chromosome 17, this mutation impacts MYH3 (myosin heavy chain 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Contractures, pterygia, and variable skeletal fusions syndrome 1B | TGACCCGCTGCAGGTTGTCAATCTGCTCCCCAAGCTCGGCCACACTATCCGCATGCTTCTTCCTCAGCGCGGCCACCATGGCTTCGTGCTGCAGTGTGGCCTCCTCCAGGTCCCTGCGCAGCTTCAGGAACTCCGCCTCCCGCTTCTTGTTGAGCTCTATCTGCGTGGAGGTGACGCCTCCCGCCTCCTCCAGCCGCTCGCTCAGCTCCTCCAGCTCCCGGGCATAGTCGCTGCGCTGTTTCTCTGTCTTCGCGCGGGTGGCCCTCTCCGCCTCTATCTCCTCTTCCAGCTCCTCAATTCGAGCCTGTGGAGGGCAGCCG... | TGACCCGCTGCAGGTTGTCAATCTGCTCCCCAAGCTCGGCCACACTATCCGCATGCTTCTTCCTCAGCGCGGCCACCATGGCTTCGTGCTGCAGTGTGGCCTCCTCCAGGTCCCTGCGCAGCTTCAGGAACTCCGCCTCCCGCTTCTTGTTGAGCTCTATCTGCGTGGAGGTGACGCCTCCCGCCTCCTCCAGCCGCTCGCTCAGCTCCTCCAGCTCCCGGGCATAGTCGCTGCGCTGTTTCTCTGTCTTCGCGCGGGTGGCCCTCTCCGCCTCTATCTCCTCTTCCAGCTCCTCAATTCGAGCCTGTGGAGGGCAGCCG... |
Task1_train_23792 | This alteration in MYH3 (myosin heavy chain 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Freeman-Sheldon syndrome | CCCCAAGCTCGGCCACACTATCCGCATGCTTCTTCCTCAGCGCGGCCACCATGGCTTCGTGCTGCAGTGTGGCCTCCTCCAGGTCCCTGCGCAGCTTCAGGAACTCCGCCTCCCGCTTCTTGTTGAGCTCTATCTGCGTGGAGGTGACGCCTCCCGCCTCCTCCAGCCGCTCGCTCAGCTCCTCCAGCTCCCGGGCATAGTCGCTGCGCTGTTTCTCTGTCTTCGCGCGGGTGGCCCTCTCCGCCTCTATCTCCTCTTCCAGCTCCTCAATTCGAGCCTGTGGAGGGCAGCCGTTCACCCCGTGGGCAGTGGGTTCACCG... | CCCCAAGCTCGGCCACACTATCCGCATGCTTCTTCCTCAGCGCGGCCACCATGGCTTCGTGCTGCAGTGTGGCCTCCTCCAGGTCCCTGCGCAGCTTCAGGAACTCCGCCTCCCGCTTCTTGTTGAGCTCTATCTGCGTGGAGGTGACGCCTCCCGCCTCCTCCAGCCGCTCGCTCAGCTCCTCCAGCTCCCGGGCATAGTCGCTGCGCTGTTTCTCTGTCTTCGCGCGGGTGGCCCTCTCCGCCTCTATCTCCTCTTCCAGCTCCTCAATTCGAGCCTGTGGAGGGCAGCCGTTCACCCCGTGGGCAGTGGGTTCACCG... |
Task1_train_23793 | This variant lies on Chromosome 17 and affects the gene MYH3 (myosin heavy chain 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Contractures, pterygia, and variable skeletal fusions syndrome 1B | CTTGAGCAAGCTTCAAGTCTCCTTCCAATTTCCTTTTGTTCCTTTCCAGGTCTACTCGGAGCTTCTTTTCTTGTTCTAGGGAGCTTTCCAGCTGAAAAAGGCACCATTTCCTTTTGGGAACAAATGCTTTGCAAGAGGACCCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTG... | CTTGAGCAAGCTTCAAGTCTCCTTCCAATTTCCTTTTGTTCCTTTCCAGGTCTACTCGGAGCTTCTTTTCTTGTTCTAGGGAGCTTTCCAGCTGAAAAAGGCACCATTTCCTTTTGGGAACAAATGCTTTGCAAGAGGACCCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTG... |
Task1_train_23794 | A genomic change on Chromosome 17 affects MYH3 (myosin heavy chain 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Contractures, pterygia, and variable skeletal fusions syndrome 1B | CCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATA... | CCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATA... |
Task1_train_23795 | This variant lies on Chromosome 17 and affects the gene MYH3 (myosin heavy chain 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Freeman-Sheldon syndrome | GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCT... | GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCT... |
Task1_train_23796 | Here is a genetic alteration in MYH3 (myosin heavy chain 3) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Contractures, pterygia, and variable skeletal fusions syndrome 1B | GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCT... | GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCT... |
Task1_train_23797 | This mutation occurs in MYH3 (myosin heavy chain 3) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Arthrogryposis, distal, type 2B3 | GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCT... | GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCT... |
Task1_train_23798 | This sequence variant lies in MYH3 (myosin heavy chain 3) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCT... | GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCT... |
Task1_train_23799 | This variant impacts the gene MYH3 (myosin heavy chain 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Freeman-Sheldon syndrome | GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCT... | GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCT... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.