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_29000 | Located on Chromosome 22, this mutation impacts SHANK3 (SH3 and multiple ankyrin repeat domains 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Schizophrenia 15 | GTCACCCCCTGGGGGAGGCGAGGCTGGGCCCTGCACCGCGCGGGTCGCTGCGCCCTCTGTCGGTTGAGCCGGACCGGGACCCGACCCCCATCAGCCCCCCAGTATCACACGGGGCACGGCGGGGGAGTTTGGGCTGAGAGCCCGTCACTTAACAGCTGGCCCAGGGGTCAGGATGTTAGAGTAGTTCAGGTGTTGGCAACTGCGTGACGGACAGCCCACAGGAGGGGAAGGAGAGGTGCCCCGTGTGACTAGAGCGTAGCAAACTGCCAAGCCCGAGGGAGCCTGGCTCTTGGAAAAGCGGGTGGCTCTGGCCTGCCTGG... | GTCACCCCCTGGGGGAGGCGAGGCTGGGCCCTGCACCGCGCGGGTCGCTGCGCCCTCTGTCGGTTGAGCCGGACCGGGACCCGACCCCCATCAGCCCCCCAGTATCACACGGGGCACGGCGGGGGAGTTTGGGCTGAGAGCCCGTCACTTAACAGCTGGCCCAGGGGTCAGGATGTTAGAGTAGTTCAGGTGTTGGCAACTGCGTGACGGACAGCCCACAGGAGGGGAAGGAGAGGTGCCCCGTGTGACTAGAGCGTAGCAAACTGCCAAGCCCGAGGGAGCCTGGCTCTTGGAAAAGCGGGTGGCTCTGGCCTGCCTGG... |
Task1_train_29001 | Mutation context: Chromosome 22, Gene SHANK3 (SH3 and multiple ankyrin repeat domains 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Phelan-McDermid syndrome | CGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCC... | CGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCC... |
Task1_train_29002 | This alteration occurs within gene SHANK3 (SH3 and multiple ankyrin repeat domains 3) located on Chromosome 22. Is it associated with a disease or is it a benign variant? | Pathogenic; Phelan-McDermid syndrome | TCTGGTGGTTGGTGCCTGTGCTGAGGCCCACCTCAGGTGTTCTTGAAGCCCCTTTCTGTTTGGGGGCACAGTGTGGCCTCTTCAGGAAGTTCTGCTCTGGATCTGAGCAGCTGGGAGGAGGCAGTAGGGACAGAGGCTGAGGAGAGGACAGAAATGAGGTCCCATGGGAGAGACAGAGCTCAGATCTCCACAGAGGGCTGACCTCTCACAGGTGGGAGACAAAAGACGAAACCTGCTTTAAGGGGAGCCCCATGCGTGTGTGGGGCAGGCACTGGTGATGCTGTGTGGTGAGGACAGCCTTTAAGGGGAGCCCCATGCCT... | TCTGGTGGTTGGTGCCTGTGCTGAGGCCCACCTCAGGTGTTCTTGAAGCCCCTTTCTGTTTGGGGGCACAGTGTGGCCTCTTCAGGAAGTTCTGCTCTGGATCTGAGCAGCTGGGAGGAGGCAGTAGGGACAGAGGCTGAGGAGAGGACAGAAATGAGGTCCCATGGGAGAGACAGAGCTCAGATCTCCACAGAGGGCTGACCTCTCACAGGTGGGAGACAAAAGACGAAACCTGCTTTAAGGGGAGCCCCATGCGTGTGTGGGGCAGGCACTGGTGATGCTGTGTGGTGAGGACAGCCTTTAAGGGGAGCCCCATGCCT... |
Task1_train_29003 | With a mutation on Chromosome 22 in gene SHANK3 (SH3 and multiple ankyrin repeat domains 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | CTCACAGGTGGGAGACAAAAGACGAAACCTGCTTTAAGGGGAGCCCCATGCGTGTGTGGGGCAGGCACTGGTGATGCTGTGTGGTGAGGACAGCCTTTAAGGGGAGCCCCATGCCTGTATGGGGCAGGGACTGGTGATGCTGTGTGGTGAGGACAGCACAGAGGTTGGGGTGGGGGGACTCAGCCTGGGCAGGGGCAGGGAGAGGGGGTGGGAGGGCCACTGGAGAGGGGCCCGGCCAAAGAGGATGTCAGGGGCTCAGCACCCCCAGGCGGCCAGGCACCTGCCGAGCACTGCAGCCACGCTTGTGGTTCACCTGCACT... | CTCACAGGTGGGAGACAAAAGACGAAACCTGCTTTAAGGGGAGCCCCATGCGTGTGTGGGGCAGGCACTGGTGATGCTGTGTGGTGAGGACAGCCTTTAAGGGGAGCCCCATGCCTGTATGGGGCAGGGACTGGTGATGCTGTGTGGTGAGGACAGCACAGAGGTTGGGGTGGGGGGACTCAGCCTGGGCAGGGGCAGGGAGAGGGGGTGGGAGGGCCACTGGAGAGGGGCCCGGCCAAAGAGGATGTCAGGGGCTCAGCACCCCCAGGCGGCCAGGCACCTGCCGAGCACTGCAGCCACGCTTGTGGTTCACCTGCACT... |
Task1_train_29004 | A variant has been detected on Chromosome X in LOC107652445, SHOX (meiotic recombination hotspot SHOX| SHOX homeobox). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Leri-Weill dyschondrosteosis | GGCAGCTTCCCAAGGCCCTGACTTTGTCGAAGCAGAAAGCTGTGGCTACGGTTTACAAAGCAGTCCCCGGTTTCTGACCGTCTAAGAGGCAGGAGCCCAGCCTGCCTTTGACAGTGAGAGGAGTTCCTCCCTACACACTGCTGCGGGCACCCGGCACTGTAATTCATACACAGAGAGTTGGCCTTCCTGGACGCAAGGCTGGGAGCCGCTTGAGGGCCTGCGTGTAATTTAAGAGGGTTCGCAGCGCCCGGCGGCCGCTTCTGTGGGGTTGCTTTTTGGTTGTCCTTCGCAGACACCGTTTTGCTCCTCTGAACTCTCTC... | GGCAGCTTCCCAAGGCCCTGACTTTGTCGAAGCAGAAAGCTGTGGCTACGGTTTACAAAGCAGTCCCCGGTTTCTGACCGTCTAAGAGGCAGGAGCCCAGCCTGCCTTTGACAGTGAGAGGAGTTCCTCCCTACACACTGCTGCGGGCACCCGGCACTGTAATTCATACACAGAGAGTTGGCCTTCCTGGACGCAAGGCTGGGAGCCGCTTGAGGGCCTGCGTGTAATTTAAGAGGGTTCGCAGCGCCCGGCGGCCGCTTCTGTGGGGTTGCTTTTTGGTTGTCCTTCGCAGACACCGTTTTGCTCCTCTGAACTCTCTC... |
Task1_train_29005 | Here is a genetic alteration in LOC107652445, SHOX (meiotic recombination hotspot SHOX| SHOX homeobox) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Leri-Weill dyschondrosteosis | GCAGTCCCCGGTTTCTGACCGTCTAAGAGGCAGGAGCCCAGCCTGCCTTTGACAGTGAGAGGAGTTCCTCCCTACACACTGCTGCGGGCACCCGGCACTGTAATTCATACACAGAGAGTTGGCCTTCCTGGACGCAAGGCTGGGAGCCGCTTGAGGGCCTGCGTGTAATTTAAGAGGGTTCGCAGCGCCCGGCGGCCGCTTCTGTGGGGTTGCTTTTTGGTTGTCCTTCGCAGACACCGTTTTGCTCCTCTGAACTCTCTCTTCTCCCCCTGGCCGTGGACCCGGGAGAGCAAAGTGTCCTCCAGACCTTTCGAAAGTGA... | GCAGTCCCCGGTTTCTGACCGTCTAAGAGGCAGGAGCCCAGCCTGCCTTTGACAGTGAGAGGAGTTCCTCCCTACACACTGCTGCGGGCACCCGGCACTGTAATTCATACACAGAGAGTTGGCCTTCCTGGACGCAAGGCTGGGAGCCGCTTGAGGGCCTGCGTGTAATTTAAGAGGGTTCGCAGCGCCCGGCGGCCGCTTCTGTGGGGTTGCTTTTTGGTTGTCCTTCGCAGACACCGTTTTGCTCCTCTGAACTCTCTCTTCTCCCCCTGGCCGTGGACCCGGGAGAGCAAAGTGTCCTCCAGACCTTTCGAAAGTGA... |
Task1_train_29006 | A mutation found in LOC107652445, SHOX (meiotic recombination hotspot SHOX| SHOX homeobox) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; SHOX-related short stature | CTTTGACAGTGAGAGGAGTTCCTCCCTACACACTGCTGCGGGCACCCGGCACTGTAATTCATACACAGAGAGTTGGCCTTCCTGGACGCAAGGCTGGGAGCCGCTTGAGGGCCTGCGTGTAATTTAAGAGGGTTCGCAGCGCCCGGCGGCCGCTTCTGTGGGGTTGCTTTTTGGTTGTCCTTCGCAGACACCGTTTTGCTCCTCTGAACTCTCTCTTCTCCCCCTGGCCGTGGACCCGGGAGAGCAAAGTGTCCTCCAGACCTTTCGAAAGTGAGAGGAAAATAAAGACCAGGCCAAAGACCCAGGGCCACAGGAGAGGA... | CTTTGACAGTGAGAGGAGTTCCTCCCTACACACTGCTGCGGGCACCCGGCACTGTAATTCATACACAGAGAGTTGGCCTTCCTGGACGCAAGGCTGGGAGCCGCTTGAGGGCCTGCGTGTAATTTAAGAGGGTTCGCAGCGCCCGGCGGCCGCTTCTGTGGGGTTGCTTTTTGGTTGTCCTTCGCAGACACCGTTTTGCTCCTCTGAACTCTCTCTTCTCCCCCTGGCCGTGGACCCGGGAGAGCAAAGTGTCCTCCAGACCTTTCGAAAGTGAGAGGAAAATAAAGACCAGGCCAAAGACCCAGGGCCACAGGAGAGGA... |
Task1_train_29007 | This genomic variant is located on Chromosome X, within the LOC107652445, SHOX (meiotic recombination hotspot SHOX| SHOX homeobox) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Leri-Weill dyschondrosteosis | TTCCTCCCTACACACTGCTGCGGGCACCCGGCACTGTAATTCATACACAGAGAGTTGGCCTTCCTGGACGCAAGGCTGGGAGCCGCTTGAGGGCCTGCGTGTAATTTAAGAGGGTTCGCAGCGCCCGGCGGCCGCTTCTGTGGGGTTGCTTTTTGGTTGTCCTTCGCAGACACCGTTTTGCTCCTCTGAACTCTCTCTTCTCCCCCTGGCCGTGGACCCGGGAGAGCAAAGTGTCCTCCAGACCTTTCGAAAGTGAGAGGAAAATAAAGACCAGGCCAAAGACCCAGGGCCACAGGAGAGGAGACAGAGAGTCCCCGTTA... | TTCCTCCCTACACACTGCTGCGGGCACCCGGCACTGTAATTCATACACAGAGAGTTGGCCTTCCTGGACGCAAGGCTGGGAGCCGCTTGAGGGCCTGCGTGTAATTTAAGAGGGTTCGCAGCGCCCGGCGGCCGCTTCTGTGGGGTTGCTTTTTGGTTGTCCTTCGCAGACACCGTTTTGCTCCTCTGAACTCTCTCTTCTCCCCCTGGCCGTGGACCCGGGAGAGCAAAGTGTCCTCCAGACCTTTCGAAAGTGAGAGGAAAATAAAGACCAGGCCAAAGACCCAGGGCCACAGGAGAGGAGACAGAGAGTCCCCGTTA... |
Task1_train_29008 | A variant was discovered in gene LOC107652445, SHOX (meiotic recombination hotspot SHOX| SHOX homeobox), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Leri-Weill dyschondrosteosis | CCCTACACACTGCTGCGGGCACCCGGCACTGTAATTCATACACAGAGAGTTGGCCTTCCTGGACGCAAGGCTGGGAGCCGCTTGAGGGCCTGCGTGTAATTTAAGAGGGTTCGCAGCGCCCGGCGGCCGCTTCTGTGGGGTTGCTTTTTGGTTGTCCTTCGCAGACACCGTTTTGCTCCTCTGAACTCTCTCTTCTCCCCCTGGCCGTGGACCCGGGAGAGCAAAGTGTCCTCCAGACCTTTCGAAAGTGAGAGGAAAATAAAGACCAGGCCAAAGACCCAGGGCCACAGGAGAGGAGACAGAGAGTCCCCGTTACATTT... | CCCTACACACTGCTGCGGGCACCCGGCACTGTAATTCATACACAGAGAGTTGGCCTTCCTGGACGCAAGGCTGGGAGCCGCTTGAGGGCCTGCGTGTAATTTAAGAGGGTTCGCAGCGCCCGGCGGCCGCTTCTGTGGGGTTGCTTTTTGGTTGTCCTTCGCAGACACCGTTTTGCTCCTCTGAACTCTCTCTTCTCCCCCTGGCCGTGGACCCGGGAGAGCAAAGTGTCCTCCAGACCTTTCGAAAGTGAGAGGAAAATAAAGACCAGGCCAAAGACCCAGGGCCACAGGAGAGGAGACAGAGAGTCCCCGTTACATTT... |
Task1_train_29009 | A variant was discovered in gene SHOX (SHOX homeobox), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | GCCGAGGGACCCAGCACGTGTTTTGCCCACAACAGCCGGAGTGACTGGTTCACTCACCGCCTTGGCGGAGGACGCCTGTTCTCTGGACGAATCATTTCTCTTGGGTGGTGACTGCCTTGTGGGTCAAGGTGCAGGTTTTCTGCCACAGAAAACCTGTTAGGAGGAATTAAGCGACTAAGACTGTCAGGGAGGTGGTGGTGGGGGAGAGGAGGGGGTGGTGTCCAGATTACCAGGCATAGGCTAAACTGCCTGCACTCTCCAGCTGGTCTGTCTGTGGAGGAGGGGATTGTCAATACTGGGAGAGCAGAGGAGGCTCGTAG... | GCCGAGGGACCCAGCACGTGTTTTGCCCACAACAGCCGGAGTGACTGGTTCACTCACCGCCTTGGCGGAGGACGCCTGTTCTCTGGACGAATCATTTCTCTTGGGTGGTGACTGCCTTGTGGGTCAAGGTGCAGGTTTTCTGCCACAGAAAACCTGTTAGGAGGAATTAAGCGACTAAGACTGTCAGGGAGGTGGTGGTGGGGGAGAGGAGGGGGTGGTGTCCAGATTACCAGGCATAGGCTAAACTGCCTGCACTCTCCAGCTGGTCTGTCTGTGGAGGAGGGGATTGTCAATACTGGGAGAGCAGAGGAGGCTCGTAG... |
Task1_train_29010 | A variant affecting Chromosome X, within the gene SHOX (SHOX homeobox), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Langer mesomelic dysplasia syndrome | GGACCCAGCACGTGTTTTGCCCACAACAGCCGGAGTGACTGGTTCACTCACCGCCTTGGCGGAGGACGCCTGTTCTCTGGACGAATCATTTCTCTTGGGTGGTGACTGCCTTGTGGGTCAAGGTGCAGGTTTTCTGCCACAGAAAACCTGTTAGGAGGAATTAAGCGACTAAGACTGTCAGGGAGGTGGTGGTGGGGGAGAGGAGGGGGTGGTGTCCAGATTACCAGGCATAGGCTAAACTGCCTGCACTCTCCAGCTGGTCTGTCTGTGGAGGAGGGGATTGTCAATACTGGGAGAGCAGAGGAGGCTCGTAGGAGGTG... | GGACCCAGCACGTGTTTTGCCCACAACAGCCGGAGTGACTGGTTCACTCACCGCCTTGGCGGAGGACGCCTGTTCTCTGGACGAATCATTTCTCTTGGGTGGTGACTGCCTTGTGGGTCAAGGTGCAGGTTTTCTGCCACAGAAAACCTGTTAGGAGGAATTAAGCGACTAAGACTGTCAGGGAGGTGGTGGTGGGGGAGAGGAGGGGGTGGTGTCCAGATTACCAGGCATAGGCTAAACTGCCTGCACTCTCCAGCTGGTCTGTCTGTGGAGGAGGGGATTGTCAATACTGGGAGAGCAGAGGAGGCTCGTAGGAGGTG... |
Task1_train_29011 | Given this variant in gene SHOX (SHOX homeobox) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Leri-Weill dyschondrosteosis | GGACCCAGCACGTGTTTTGCCCACAACAGCCGGAGTGACTGGTTCACTCACCGCCTTGGCGGAGGACGCCTGTTCTCTGGACGAATCATTTCTCTTGGGTGGTGACTGCCTTGTGGGTCAAGGTGCAGGTTTTCTGCCACAGAAAACCTGTTAGGAGGAATTAAGCGACTAAGACTGTCAGGGAGGTGGTGGTGGGGGAGAGGAGGGGGTGGTGTCCAGATTACCAGGCATAGGCTAAACTGCCTGCACTCTCCAGCTGGTCTGTCTGTGGAGGAGGGGATTGTCAATACTGGGAGAGCAGAGGAGGCTCGTAGGAGGTG... | GGACCCAGCACGTGTTTTGCCCACAACAGCCGGAGTGACTGGTTCACTCACCGCCTTGGCGGAGGACGCCTGTTCTCTGGACGAATCATTTCTCTTGGGTGGTGACTGCCTTGTGGGTCAAGGTGCAGGTTTTCTGCCACAGAAAACCTGTTAGGAGGAATTAAGCGACTAAGACTGTCAGGGAGGTGGTGGTGGGGGAGAGGAGGGGGTGGTGTCCAGATTACCAGGCATAGGCTAAACTGCCTGCACTCTCCAGCTGGTCTGTCTGTGGAGGAGGGGATTGTCAATACTGGGAGAGCAGAGGAGGCTCGTAGGAGGTG... |
Task1_train_29012 | Here is a genetic alteration in SHOX (SHOX homeobox) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Leri-Weill dyschondrosteosis | GACCCAGCACGTGTTTTGCCCACAACAGCCGGAGTGACTGGTTCACTCACCGCCTTGGCGGAGGACGCCTGTTCTCTGGACGAATCATTTCTCTTGGGTGGTGACTGCCTTGTGGGTCAAGGTGCAGGTTTTCTGCCACAGAAAACCTGTTAGGAGGAATTAAGCGACTAAGACTGTCAGGGAGGTGGTGGTGGGGGAGAGGAGGGGGTGGTGTCCAGATTACCAGGCATAGGCTAAACTGCCTGCACTCTCCAGCTGGTCTGTCTGTGGAGGAGGGGATTGTCAATACTGGGAGAGCAGAGGAGGCTCGTAGGAGGTGA... | GACCCAGCACGTGTTTTGCCCACAACAGCCGGAGTGACTGGTTCACTCACCGCCTTGGCGGAGGACGCCTGTTCTCTGGACGAATCATTTCTCTTGGGTGGTGACTGCCTTGTGGGTCAAGGTGCAGGTTTTCTGCCACAGAAAACCTGTTAGGAGGAATTAAGCGACTAAGACTGTCAGGGAGGTGGTGGTGGGGGAGAGGAGGGGGTGGTGTCCAGATTACCAGGCATAGGCTAAACTGCCTGCACTCTCCAGCTGGTCTGTCTGTGGAGGAGGGGATTGTCAATACTGGGAGAGCAGAGGAGGCTCGTAGGAGGTGA... |
Task1_train_29013 | This variant lies on Chromosome X and affects the gene SHOX (SHOX homeobox). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Leri-Weill dyschondrosteosis | ACGTGTTTTGCCCACAACAGCCGGAGTGACTGGTTCACTCACCGCCTTGGCGGAGGACGCCTGTTCTCTGGACGAATCATTTCTCTTGGGTGGTGACTGCCTTGTGGGTCAAGGTGCAGGTTTTCTGCCACAGAAAACCTGTTAGGAGGAATTAAGCGACTAAGACTGTCAGGGAGGTGGTGGTGGGGGAGAGGAGGGGGTGGTGTCCAGATTACCAGGCATAGGCTAAACTGCCTGCACTCTCCAGCTGGTCTGTCTGTGGAGGAGGGGATTGTCAATACTGGGAGAGCAGAGGAGGCTCGTAGGAGGTGAGAGGGGGT... | ACGTGTTTTGCCCACAACAGCCGGAGTGACTGGTTCACTCACCGCCTTGGCGGAGGACGCCTGTTCTCTGGACGAATCATTTCTCTTGGGTGGTGACTGCCTTGTGGGTCAAGGTGCAGGTTTTCTGCCACAGAAAACCTGTTAGGAGGAATTAAGCGACTAAGACTGTCAGGGAGGTGGTGGTGGGGGAGAGGAGGGGGTGGTGTCCAGATTACCAGGCATAGGCTAAACTGCCTGCACTCTCCAGCTGGTCTGTCTGTGGAGGAGGGGATTGTCAATACTGGGAGAGCAGAGGAGGCTCGTAGGAGGTGAGAGGGGGT... |
Task1_train_29014 | This mutation occurs in SHOX (SHOX homeobox) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Leri-Weill dyschondrosteosis | CGTGTTTTGCCCACAACAGCCGGAGTGACTGGTTCACTCACCGCCTTGGCGGAGGACGCCTGTTCTCTGGACGAATCATTTCTCTTGGGTGGTGACTGCCTTGTGGGTCAAGGTGCAGGTTTTCTGCCACAGAAAACCTGTTAGGAGGAATTAAGCGACTAAGACTGTCAGGGAGGTGGTGGTGGGGGAGAGGAGGGGGTGGTGTCCAGATTACCAGGCATAGGCTAAACTGCCTGCACTCTCCAGCTGGTCTGTCTGTGGAGGAGGGGATTGTCAATACTGGGAGAGCAGAGGAGGCTCGTAGGAGGTGAGAGGGGGTG... | CGTGTTTTGCCCACAACAGCCGGAGTGACTGGTTCACTCACCGCCTTGGCGGAGGACGCCTGTTCTCTGGACGAATCATTTCTCTTGGGTGGTGACTGCCTTGTGGGTCAAGGTGCAGGTTTTCTGCCACAGAAAACCTGTTAGGAGGAATTAAGCGACTAAGACTGTCAGGGAGGTGGTGGTGGGGGAGAGGAGGGGGTGGTGTCCAGATTACCAGGCATAGGCTAAACTGCCTGCACTCTCCAGCTGGTCTGTCTGTGGAGGAGGGGATTGTCAATACTGGGAGAGCAGAGGAGGCTCGTAGGAGGTGAGAGGGGGTG... |
Task1_train_29015 | This sequence change occurs on Chromosome X, altering SHOX (SHOX homeobox). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; SHOX-related short stature | CCACAACAGCCGGAGTGACTGGTTCACTCACCGCCTTGGCGGAGGACGCCTGTTCTCTGGACGAATCATTTCTCTTGGGTGGTGACTGCCTTGTGGGTCAAGGTGCAGGTTTTCTGCCACAGAAAACCTGTTAGGAGGAATTAAGCGACTAAGACTGTCAGGGAGGTGGTGGTGGGGGAGAGGAGGGGGTGGTGTCCAGATTACCAGGCATAGGCTAAACTGCCTGCACTCTCCAGCTGGTCTGTCTGTGGAGGAGGGGATTGTCAATACTGGGAGAGCAGAGGAGGCTCGTAGGAGGTGAGAGGGGGTGGAATTTGCAT... | CCACAACAGCCGGAGTGACTGGTTCACTCACCGCCTTGGCGGAGGACGCCTGTTCTCTGGACGAATCATTTCTCTTGGGTGGTGACTGCCTTGTGGGTCAAGGTGCAGGTTTTCTGCCACAGAAAACCTGTTAGGAGGAATTAAGCGACTAAGACTGTCAGGGAGGTGGTGGTGGGGGAGAGGAGGGGGTGGTGTCCAGATTACCAGGCATAGGCTAAACTGCCTGCACTCTCCAGCTGGTCTGTCTGTGGAGGAGGGGATTGTCAATACTGGGAGAGCAGAGGAGGCTCGTAGGAGGTGAGAGGGGGTGGAATTTGCAT... |
Task1_train_29016 | Given this variant in gene SHOX (SHOX homeobox) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Leri-Weill dyschondrosteosis | TATTTGGGCGCGTGTTTGGCTGAGGGTGCAGGGACTTGGGGGGTGGCGGTGGGGAGCGCGGAAGGTATAAACGTATAAATCATAAGTAAACAACTCAGAAATGGACCCCGAGCGCTGGTCGCCGCTAGCTCTCCAGCTCTCCCTGGCCCAGGCCCGAAGGAGAGGGGTCCGCATCCCTCCGCGGTTCTCCTCTCCTGGGTACCTGGCCTTGAGGTGGGGGAACGAGCCTACTTCTTGTACCGTCTTTTGCCGACGGCGGGACCCAGTGAAATTAGGCCGTTGGAGCCCGCAGGCCTGCCTGGCTTTGCGCACCGGAGTCT... | TATTTGGGCGCGTGTTTGGCTGAGGGTGCAGGGACTTGGGGGGTGGCGGTGGGGAGCGCGGAAGGTATAAACGTATAAATCATAAGTAAACAACTCAGAAATGGACCCCGAGCGCTGGTCGCCGCTAGCTCTCCAGCTCTCCCTGGCCCAGGCCCGAAGGAGAGGGGTCCGCATCCCTCCGCGGTTCTCCTCTCCTGGGTACCTGGCCTTGAGGTGGGGGAACGAGCCTACTTCTTGTACCGTCTTTTGCCGACGGCGGGACCCAGTGAAATTAGGCCGTTGGAGCCCGCAGGCCTGCCTGGCTTTGCGCACCGGAGTCT... |
Task1_train_29017 | This gene mutation involves CSF2RA (colony stimulating factor 2 receptor subunit alpha) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Surfactant metabolism dysfunction, pulmonary, 4 | GAACCTGGAAGGCGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGAGACTGTAGGAGACAGAAGGTTGTTTCCTAATCGGCTCTGTCTGGTTGCAATTCTTCAGCTCAGTAACAACGAATGTTCGTGCACATTTCGTGAAATTTGTCTGCATGAAGGAGTCACATTTGAGGTTCACGTGAATACTAGTCAAAGAGGATTTCAACAGAAACTGCTTTATCCAAATTCAGGTAAGCAAGACAGCTCAGGGATCCGTTTACAGCACTGGCCCCACCACCCCGCCAGCATCAAAGTACATCCCGTTGAAC... | GAACCTGGAAGGCGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGAGACTGTAGGAGACAGAAGGTTGTTTCCTAATCGGCTCTGTCTGGTTGCAATTCTTCAGCTCAGTAACAACGAATGTTCGTGCACATTTCGTGAAATTTGTCTGCATGAAGGAGTCACATTTGAGGTTCACGTGAATACTAGTCAAAGAGGATTTCAACAGAAACTGCTTTATCCAAATTCAGGTAAGCAAGACAGCTCAGGGATCCGTTTACAGCACTGGCCCCACCACCCCGCCAGCATCAAAGTACATCCCGTTGAAC... |
Task1_train_29018 | This alteration occurs within gene ARSL (arylsulfatase L) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; X-linked chondrodysplasia punctata 1 | AGGCGGTGACAAGGTGGGGCATTGCTCGTCACATACCTAGGCTTGGAAGAGTGGGAGGAGGGACCTGTTGCTTGAATCTGGAGACAGAAAGAGCTATTGGAAAGACCTCCTTACTCCCAGGGGAGAATGTGCTGGGGACTGAATTGTGTTGCCTTCAAACTCACAGGAATAAGGTTTTTATTCATCCTTTAAAATGAGGTCACAAGAGTGGGCCCTATTCCAATAGGAGTGGGGTCCTTATAAGAAGAGGAGATTAGGGCCGGGTGCAGTGACTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGCGGATCA... | AGGCGGTGACAAGGTGGGGCATTGCTCGTCACATACCTAGGCTTGGAAGAGTGGGAGGAGGGACCTGTTGCTTGAATCTGGAGACAGAAAGAGCTATTGGAAAGACCTCCTTACTCCCAGGGGAGAATGTGCTGGGGACTGAATTGTGTTGCCTTCAAACTCACAGGAATAAGGTTTTTATTCATCCTTTAAAATGAGGTCACAAGAGTGGGCCCTATTCCAATAGGAGTGGGGTCCTTATAAGAAGAGGAGATTAGGGCCGGGTGCAGTGACTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGCGGATCA... |
Task1_train_29019 | A variant on Chromosome X in gene ARSL (arylsulfatase L) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; X-linked chondrodysplasia punctata 1 | GGCCGGGTGCAGTGACTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCGGGAGTTCTAGACCAGCCTGGGCAACATGGTGAAAACCCACCTCTACTAAATAATACAAAAATTAGCCGGGCATGGTGGTGCACGCCTGTAGTCCCACCTACTCGGGAGGCTGAGACAGGGGAATCACTTGAACCTGTGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGCAAGACCCCATCTCAAAAAAAAACAAAAAACAAAAAACAAGAATCAGAGATAG... | GGCCGGGTGCAGTGACTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCGGGAGTTCTAGACCAGCCTGGGCAACATGGTGAAAACCCACCTCTACTAAATAATACAAAAATTAGCCGGGCATGGTGGTGCACGCCTGTAGTCCCACCTACTCGGGAGGCTGAGACAGGGGAATCACTTGAACCTGTGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGCAAGACCCCATCTCAAAAAAAAACAAAAAACAAAAAACAAGAATCAGAGATAG... |
Task1_train_29020 | Gene ARSL (arylsulfatase L) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | GGGGCTCCAGCTTTTCACTGCAGACATTTATTGTGGGTCATCTTCCCTAAGGCACCAGCAGAGGGGGAACGGGCCACAGCAGGGCTGCAGCCACGGTCTCCAGATGTTGCCCAGCCTGTCCAGCTGCAGAGGAACTGGGCTGAGTGTCCGCTGGTGTTCCCACACCGCCTGCTGGACTCGTTCCATCACCTGATAGAACACGGGCTCTGAGGCTGGTGTGAGGATGTGGGTCTCAGAAGGGTCTCTTGAGAGGTCAAAGAGCAAAGGTGGATCGTGGTGGACTACTTTTTCCCCAAAGCACGGGCAGACCTTTCTTCCAT... | GGGGCTCCAGCTTTTCACTGCAGACATTTATTGTGGGTCATCTTCCCTAAGGCACCAGCAGAGGGGGAACGGGCCACAGCAGGGCTGCAGCCACGGTCTCCAGATGTTGCCCAGCCTGTCCAGCTGCAGAGGAACTGGGCTGAGTGTCCGCTGGTGTTCCCACACCGCCTGCTGGACTCGTTCCATCACCTGATAGAACACGGGCTCTGAGGCTGGTGTGAGGATGTGGGTCTCAGAAGGGTCTCTTGAGAGGTCAAAGAGCAAAGGTGGATCGTGGTGGACTACTTTTTCCCCAAAGCACGGGCAGACCTTTCTTCCAT... |
Task1_train_29021 | Located on Chromosome X, this mutation impacts ARSL (arylsulfatase L). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; X-linked chondrodysplasia punctata 1 | AAAAATTAGCCGGGTGTGGTAGTGCACACCTGTGGTCCCAGGTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGAAGGCAGGGTGCAGTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTAAGAGTGAGACCCTGTCGGCCAGGCGCAGTGGCTCATCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGCAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAAACCCAGCTAC... | AAAAATTAGCCGGGTGTGGTAGTGCACACCTGTGGTCCCAGGTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGAAGGCAGGGTGCAGTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTAAGAGTGAGACCCTGTCGGCCAGGCGCAGTGGCTCATCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGCAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAAACCCAGCTAC... |
Task1_train_29022 | A genomic change on Chromosome X affects ARSL (arylsulfatase L). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; X-linked chondrodysplasia punctata 1 | TGCCACACATTCCATTTTCTTTATAATTGCTATCACGTAGTGAGGATTAGGACATAAAATAGTTATAAAAAACACACTTTACAAATGAGGCATATTGGGTTATTCATATTATTTCCATTGTCCTCCTTGAAAGCAGTGTTTTAGCTTCTCCCTCCCTTCACCCGGCCTTCATGGTCTAATCTAGATCCTTGAAGCCTAAGAGCAATGGTGAAGGTGTTAGCCTTAATTAGAACACGTCAGGCTGGGCATGGTGTCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCG... | TGCCACACATTCCATTTTCTTTATAATTGCTATCACGTAGTGAGGATTAGGACATAAAATAGTTATAAAAAACACACTTTACAAATGAGGCATATTGGGTTATTCATATTATTTCCATTGTCCTCCTTGAAAGCAGTGTTTTAGCTTCTCCCTCCCTTCACCCGGCCTTCATGGTCTAATCTAGATCCTTGAAGCCTAAGAGCAATGGTGAAGGTGTTAGCCTTAATTAGAACACGTCAGGCTGGGCATGGTGTCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCG... |
Task1_train_29023 | This variant affects gene ARSL (arylsulfatase L) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; X-linked chondrodysplasia punctata 1 | TAGATTCAGAGGTTAGGGCCTGACATCTCTGGGACCATTATTTAGTCTATTGCACCTTGTTTTGCAGTGCAATGATGAAGGCCGGAAAGCACCATGTGATATCAGCAGCATGGGCAAAAGACTTCTGGACTTTGGAATTGTTCTCTCTTTGAGAAACCACTATCATAGTGGCCATGGTTGAAGTGGGTGGTGGGTTTTGCAAGGCACACCTTTCAAATTCAGTCAAAGGAATATAGTCTTTGCTTCCATGTAGCCACTACTATGGTGTTGACAAAGAGATGTCAACCACCCCAATGCTGTCTGCCATCTGGAAAACCTCA... | TAGATTCAGAGGTTAGGGCCTGACATCTCTGGGACCATTATTTAGTCTATTGCACCTTGTTTTGCAGTGCAATGATGAAGGCCGGAAAGCACCATGTGATATCAGCAGCATGGGCAAAAGACTTCTGGACTTTGGAATTGTTCTCTCTTTGAGAAACCACTATCATAGTGGCCATGGTTGAAGTGGGTGGTGGGTTTTGCAAGGCACACCTTTCAAATTCAGTCAAAGGAATATAGTCTTTGCTTCCATGTAGCCACTACTATGGTGTTGACAAAGAGATGTCAACCACCCCAATGCTGTCTGCCATCTGGAAAACCTCA... |
Task1_train_29024 | Here is a variant affecting ARSL (arylsulfatase L) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; X-linked chondrodysplasia punctata 1 | TTGCAGTGCAATGATGAAGGCCGGAAAGCACCATGTGATATCAGCAGCATGGGCAAAAGACTTCTGGACTTTGGAATTGTTCTCTCTTTGAGAAACCACTATCATAGTGGCCATGGTTGAAGTGGGTGGTGGGTTTTGCAAGGCACACCTTTCAAATTCAGTCAAAGGAATATAGTCTTTGCTTCCATGTAGCCACTACTATGGTGTTGACAAAGAGATGTCAACCACCCCAATGCTGTCTGCCATCTGGAAAACCTCATGATTTCCCAATGGATATCCCTTAAGGATAGACTCTTCTGTCTTAGAAAAATTATAGTTGG... | TTGCAGTGCAATGATGAAGGCCGGAAAGCACCATGTGATATCAGCAGCATGGGCAAAAGACTTCTGGACTTTGGAATTGTTCTCTCTTTGAGAAACCACTATCATAGTGGCCATGGTTGAAGTGGGTGGTGGGTTTTGCAAGGCACACCTTTCAAATTCAGTCAAAGGAATATAGTCTTTGCTTCCATGTAGCCACTACTATGGTGTTGACAAAGAGATGTCAACCACCCCAATGCTGTCTGCCATCTGGAAAACCTCATGATTTCCCAATGGATATCCCTTAAGGATAGACTCTTCTGTCTTAGAAAAATTATAGTTGG... |
Task1_train_29025 | A genetic alteration is present in ARSL (arylsulfatase L) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; X-linked chondrodysplasia punctata 1 | AGGCCGGAAAGCACCATGTGATATCAGCAGCATGGGCAAAAGACTTCTGGACTTTGGAATTGTTCTCTCTTTGAGAAACCACTATCATAGTGGCCATGGTTGAAGTGGGTGGTGGGTTTTGCAAGGCACACCTTTCAAATTCAGTCAAAGGAATATAGTCTTTGCTTCCATGTAGCCACTACTATGGTGTTGACAAAGAGATGTCAACCACCCCAATGCTGTCTGCCATCTGGAAAACCTCATGATTTCCCAATGGATATCCCTTAAGGATAGACTCTTCTGTCTTAGAAAAATTATAGTTGGCCAGGCATGGTGGTTCA... | AGGCCGGAAAGCACCATGTGATATCAGCAGCATGGGCAAAAGACTTCTGGACTTTGGAATTGTTCTCTCTTTGAGAAACCACTATCATAGTGGCCATGGTTGAAGTGGGTGGTGGGTTTTGCAAGGCACACCTTTCAAATTCAGTCAAAGGAATATAGTCTTTGCTTCCATGTAGCCACTACTATGGTGTTGACAAAGAGATGTCAACCACCCCAATGCTGTCTGCCATCTGGAAAACCTCATGATTTCCCAATGGATATCCCTTAAGGATAGACTCTTCTGTCTTAGAAAAATTATAGTTGGCCAGGCATGGTGGTTCA... |
Task1_train_29026 | This variant affects gene NLGN4X (neuroligin 4 X-linked) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Inborn genetic diseases | CACATGTCTTCCTTCAATCTGATTAGCTAAGCTGAGCAGGTACTTCATCGGCCAAACCCTCCCGCAGCTGCTAGGGAACACAGAGCCGTATTTACTCCAAGGGGCATAGCCCCACCAAAGGCAAGCTTTCTTCTTTTTTTGGCAGGGCCCTGAAATGGGAAGCAACTCTTCCTAAACATATTCAAAGGGCCAGAGCTACAGAACGGGACTTGTATTTTTGTTTCTCCCTACTGATTCTTTGTGTGTGCATGTCTCTAATTTAACAAGCTGTAAATACACTCCACTTTGGGGACCCATCTCTGTACTGCAATTTCATGAAG... | CACATGTCTTCCTTCAATCTGATTAGCTAAGCTGAGCAGGTACTTCATCGGCCAAACCCTCCCGCAGCTGCTAGGGAACACAGAGCCGTATTTACTCCAAGGGGCATAGCCCCACCAAAGGCAAGCTTTCTTCTTTTTTTGGCAGGGCCCTGAAATGGGAAGCAACTCTTCCTAAACATATTCAAAGGGCCAGAGCTACAGAACGGGACTTGTATTTTTGTTTCTCCCTACTGATTCTTTGTGTGTGCATGTCTCTAATTTAACAAGCTGTAAATACACTCCACTTTGGGGACCCATCTCTGTACTGCAATTTCATGAAG... |
Task1_train_29027 | Assess the clinical impact of this variant on gene STS (steroid sulfatase), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | TCTTGAATTGTAGCACCCATAATTCCCACGTGTTGTGGGAGGGACCCGGTGGGAGATAATGGAATCATGGGGGAGATTTTCCCCCATACTGTTCTCATGGTAATAAATAGGTTTCGCGAGATCTGATGGTTTTATGCGGGGTTTCTGCTTTCGCTTGGCTGGCTCTCTCTCCTGCCTGCTGCCATGATTGTGAGGCCTTCCCAGCCATGTGATACTGTAAGTCAATTAAACCTCTTTTTATAAGTTACCCAGTCTCGGGTGTGTCTTTATTAGCAACGTGAGAGCAGACTAATACAGCAGGTTACTAAACCAGTACAAAA... | TCTTGAATTGTAGCACCCATAATTCCCACGTGTTGTGGGAGGGACCCGGTGGGAGATAATGGAATCATGGGGGAGATTTTCCCCCATACTGTTCTCATGGTAATAAATAGGTTTCGCGAGATCTGATGGTTTTATGCGGGGTTTCTGCTTTCGCTTGGCTGGCTCTCTCTCCTGCCTGCTGCCATGATTGTGAGGCCTTCCCAGCCATGTGATACTGTAAGTCAATTAAACCTCTTTTTATAAGTTACCCAGTCTCGGGTGTGTCTTTATTAGCAACGTGAGAGCAGACTAATACAGCAGGTTACTAAACCAGTACAAAA... |
Task1_train_29028 | The gene STS (steroid sulfatase) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; X-linked ichthyosis with steryl-sulfatase deficiency | GTTCTAATGATCCTGTCATCCAAGTAGTGAACATAGTACCTGATAGTTTTTCACTCCTTGACCTCCTCCCTCTTTCCCCCCTAGTAGTTCCCAGTGTCTACTGTTGCCAACTTTATGTTTATGAGTACTGAATGTTTAGCTCCCACTTATAAGTAAGAACATGCAGTGTTTGATTTTCTGTTCCTGCATTAATTCACTTAGGATAATGGCCTCTAGCTATACCATGTTGCTACAAAGGACAATATTTTGTTCTTTTTTATGGCTGTGTAGTATTCCATGATGTATATGTGCCACATTTTCTTTATCCAATCCCTGTCGAT... | GTTCTAATGATCCTGTCATCCAAGTAGTGAACATAGTACCTGATAGTTTTTCACTCCTTGACCTCCTCCCTCTTTCCCCCCTAGTAGTTCCCAGTGTCTACTGTTGCCAACTTTATGTTTATGAGTACTGAATGTTTAGCTCCCACTTATAAGTAAGAACATGCAGTGTTTGATTTTCTGTTCCTGCATTAATTCACTTAGGATAATGGCCTCTAGCTATACCATGTTGCTACAAAGGACAATATTTTGTTCTTTTTTATGGCTGTGTAGTATTCCATGATGTATATGTGCCACATTTTCTTTATCCAATCCCTGTCGAT... |
Task1_train_29029 | Here is a mutation in STS (steroid sulfatase) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | TTCTAATGATCCTGTCATCCAAGTAGTGAACATAGTACCTGATAGTTTTTCACTCCTTGACCTCCTCCCTCTTTCCCCCCTAGTAGTTCCCAGTGTCTACTGTTGCCAACTTTATGTTTATGAGTACTGAATGTTTAGCTCCCACTTATAAGTAAGAACATGCAGTGTTTGATTTTCTGTTCCTGCATTAATTCACTTAGGATAATGGCCTCTAGCTATACCATGTTGCTACAAAGGACAATATTTTGTTCTTTTTTATGGCTGTGTAGTATTCCATGATGTATATGTGCCACATTTTCTTTATCCAATCCCTGTCGATG... | TTCTAATGATCCTGTCATCCAAGTAGTGAACATAGTACCTGATAGTTTTTCACTCCTTGACCTCCTCCCTCTTTCCCCCCTAGTAGTTCCCAGTGTCTACTGTTGCCAACTTTATGTTTATGAGTACTGAATGTTTAGCTCCCACTTATAAGTAAGAACATGCAGTGTTTGATTTTCTGTTCCTGCATTAATTCACTTAGGATAATGGCCTCTAGCTATACCATGTTGCTACAAAGGACAATATTTTGTTCTTTTTTATGGCTGTGTAGTATTCCATGATGTATATGTGCCACATTTTCTTTATCCAATCCCTGTCGATG... |
Task1_train_29030 | Consider a variant on Chromosome X in gene STS (steroid sulfatase). Determine its clinical classification and disease relevance. | Pathogenic; X-linked ichthyosis with steryl-sulfatase deficiency | AATAATTATAAGACTTGGAGTCTTATTTTGTTTTAGTTAAATCCCCCTTTCCTATAATCATGATCAATTTCAGTTATCAAATACTGATCTTGGCCAAGGCCGGAGGAGAGCTTGAAGCCAGAAGTTCAAGGCCAGTCTGGGCAAATCGCTCCAAAAAAAAAAAATGAAAAATAGCTGGGCATGGTGGCATGTACCTGTAGTCCCATGTACTTGGGAGGATGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTATGGTCGCGCCACCACACTCCAGCCTGGATGTCAGAGCAAGACCTTGTCTCT... | AATAATTATAAGACTTGGAGTCTTATTTTGTTTTAGTTAAATCCCCCTTTCCTATAATCATGATCAATTTCAGTTATCAAATACTGATCTTGGCCAAGGCCGGAGGAGAGCTTGAAGCCAGAAGTTCAAGGCCAGTCTGGGCAAATCGCTCCAAAAAAAAAAAATGAAAAATAGCTGGGCATGGTGGCATGTACCTGTAGTCCCATGTACTTGGGAGGATGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTATGGTCGCGCCACCACACTCCAGCCTGGATGTCAGAGCAAGACCTTGTCTCT... |
Task1_train_29031 | Located on Chromosome X, this mutation impacts STS (steroid sulfatase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; X-linked ichthyosis with steryl-sulfatase deficiency | TATAAGACTTGGAGTCTTATTTTGTTTTAGTTAAATCCCCCTTTCCTATAATCATGATCAATTTCAGTTATCAAATACTGATCTTGGCCAAGGCCGGAGGAGAGCTTGAAGCCAGAAGTTCAAGGCCAGTCTGGGCAAATCGCTCCAAAAAAAAAAAATGAAAAATAGCTGGGCATGGTGGCATGTACCTGTAGTCCCATGTACTTGGGAGGATGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTATGGTCGCGCCACCACACTCCAGCCTGGATGTCAGAGCAAGACCTTGTCTCTAAAAAA... | TATAAGACTTGGAGTCTTATTTTGTTTTAGTTAAATCCCCCTTTCCTATAATCATGATCAATTTCAGTTATCAAATACTGATCTTGGCCAAGGCCGGAGGAGAGCTTGAAGCCAGAAGTTCAAGGCCAGTCTGGGCAAATCGCTCCAAAAAAAAAAAATGAAAAATAGCTGGGCATGGTGGCATGTACCTGTAGTCCCATGTACTTGGGAGGATGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTATGGTCGCGCCACCACACTCCAGCCTGGATGTCAGAGCAAGACCTTGTCTCTAAAAAA... |
Task1_train_29032 | Located on Chromosome X, this mutation impacts ANOS1 (anosmin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hypogonadotropic hypogonadism 1 with or without anosmia | CATCTTGTGATGTGAACTCTTGATAGTCCAAATTTCAGTGAATGAGCCAACTGTTTTTCTTAAAACACAGTATCTGTCAATGCCCATAACTGAAAATGTTTATTTTTATGCCAACATATTCTTCTCAAAACTCAATAAAACCTAGTACATTTATAGAATAACTACTCTCTAATTCCATGGAATTTTTCCTTCTGAGATTTAAGTTGTGTTTCTTTCCCTCTCTGCCCCTCTTTTTGGATTTTGTAACGGTAGTTGGCTATTCTAAGGGCATTTTCAGAGAGGGTAAAATCCCACACATGATTTTTTTTTTTTTTTTTTGA... | CATCTTGTGATGTGAACTCTTGATAGTCCAAATTTCAGTGAATGAGCCAACTGTTTTTCTTAAAACACAGTATCTGTCAATGCCCATAACTGAAAATGTTTATTTTTATGCCAACATATTCTTCTCAAAACTCAATAAAACCTAGTACATTTATAGAATAACTACTCTCTAATTCCATGGAATTTTTCCTTCTGAGATTTAAGTTGTGTTTCTTTCCCTCTCTGCCCCTCTTTTTGGATTTTGTAACGGTAGTTGGCTATTCTAAGGGCATTTTCAGAGAGGGTAAAATCCCACACATGATTTTTTTTTTTTTTTTTTGA... |
Task1_train_29033 | Chromosome X houses a mutation in gene ANOS1 (anosmin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; ANOS1-related disorder | TATTCTGGCCCGTTCTACAATATTCCCCTTATTCTCAAGTGAAACAGGCATATTTGAAATTCATATTAACTCTTCAGTCCTTTTATAAAAGTGCATATTTTAATTTATATTATCTCTTTAAAACACTATAGGTTTTACAAAAGGGTTTAAAAAGACGATTCCCAAAGCATCCTATTTTTATGGTGAATGCTACTCATACATAGCATATTATCTTTAATGACAGATAAGATTTCATAATAACAGATGCTTTAAAAGTTAGATGGTTTTAAATTTCGCAAAAGTGACTTGCTGTAATTTAAAATAAGAGGCATGACCACAAT... | TATTCTGGCCCGTTCTACAATATTCCCCTTATTCTCAAGTGAAACAGGCATATTTGAAATTCATATTAACTCTTCAGTCCTTTTATAAAAGTGCATATTTTAATTTATATTATCTCTTTAAAACACTATAGGTTTTACAAAAGGGTTTAAAAAGACGATTCCCAAAGCATCCTATTTTTATGGTGAATGCTACTCATACATAGCATATTATCTTTAATGACAGATAAGATTTCATAATAACAGATGCTTTAAAAGTTAGATGGTTTTAAATTTCGCAAAAGTGACTTGCTGTAATTTAAAATAAGAGGCATGACCACAAT... |
Task1_train_29034 | A genomic change on Chromosome X affects ANOS1 (anosmin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Micropenis | TATTCTGGCCCGTTCTACAATATTCCCCTTATTCTCAAGTGAAACAGGCATATTTGAAATTCATATTAACTCTTCAGTCCTTTTATAAAAGTGCATATTTTAATTTATATTATCTCTTTAAAACACTATAGGTTTTACAAAAGGGTTTAAAAAGACGATTCCCAAAGCATCCTATTTTTATGGTGAATGCTACTCATACATAGCATATTATCTTTAATGACAGATAAGATTTCATAATAACAGATGCTTTAAAAGTTAGATGGTTTTAAATTTCGCAAAAGTGACTTGCTGTAATTTAAAATAAGAGGCATGACCACAAT... | TATTCTGGCCCGTTCTACAATATTCCCCTTATTCTCAAGTGAAACAGGCATATTTGAAATTCATATTAACTCTTCAGTCCTTTTATAAAAGTGCATATTTTAATTTATATTATCTCTTTAAAACACTATAGGTTTTACAAAAGGGTTTAAAAAGACGATTCCCAAAGCATCCTATTTTTATGGTGAATGCTACTCATACATAGCATATTATCTTTAATGACAGATAAGATTTCATAATAACAGATGCTTTAAAAGTTAGATGGTTTTAAATTTCGCAAAAGTGACTTGCTGTAATTTAAAATAAGAGGCATGACCACAAT... |
Task1_train_29035 | Consider this mutation in ANOS1 (anosmin 1) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | AGCAATGTGCATTCTGTCAGCAGTTTTTCTTCCAAAGAGAAATCATGCCAAGGAGACCACAAGAAAAGCCTTTCACGGGAACTGGCTTCATCTAAGCTGGTGCTTTAGCCACTGAAACTGTAAAACAAATAAATTACAGCACTGACAATTCAAGAAAAAGAAAAAAAAAAGGTACTCTTTCTCCCTGGGAATAGGCTGCTCCGTTTTGTTTTGTTTTCTGTTGTTTCAAACAATAGTGTGGCATCTTAGGAGAGTGACTTTCAGGGTAGGACTCGGAGGGCTGGAAACCAGGTGCCTGGGGATCGGCCCTCTCCTGGCTC... | AGCAATGTGCATTCTGTCAGCAGTTTTTCTTCCAAAGAGAAATCATGCCAAGGAGACCACAAGAAAAGCCTTTCACGGGAACTGGCTTCATCTAAGCTGGTGCTTTAGCCACTGAAACTGTAAAACAAATAAATTACAGCACTGACAATTCAAGAAAAAGAAAAAAAAAAGGTACTCTTTCTCCCTGGGAATAGGCTGCTCCGTTTTGTTTTGTTTTCTGTTGTTTCAAACAATAGTGTGGCATCTTAGGAGAGTGACTTTCAGGGTAGGACTCGGAGGGCTGGAAACCAGGTGCCTGGGGATCGGCCCTCTCCTGGCTC... |
Task1_train_29036 | Here is a variant affecting ANOS1 (anosmin 1) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hypogonadotropic hypogonadism 1 with or without anosmia | CAATGTGCATTCTGTCAGCAGTTTTTCTTCCAAAGAGAAATCATGCCAAGGAGACCACAAGAAAAGCCTTTCACGGGAACTGGCTTCATCTAAGCTGGTGCTTTAGCCACTGAAACTGTAAAACAAATAAATTACAGCACTGACAATTCAAGAAAAAGAAAAAAAAAAGGTACTCTTTCTCCCTGGGAATAGGCTGCTCCGTTTTGTTTTGTTTTCTGTTGTTTCAAACAATAGTGTGGCATCTTAGGAGAGTGACTTTCAGGGTAGGACTCGGAGGGCTGGAAACCAGGTGCCTGGGGATCGGCCCTCTCCTGGCTCTG... | CAATGTGCATTCTGTCAGCAGTTTTTCTTCCAAAGAGAAATCATGCCAAGGAGACCACAAGAAAAGCCTTTCACGGGAACTGGCTTCATCTAAGCTGGTGCTTTAGCCACTGAAACTGTAAAACAAATAAATTACAGCACTGACAATTCAAGAAAAAGAAAAAAAAAAGGTACTCTTTCTCCCTGGGAATAGGCTGCTCCGTTTTGTTTTGTTTTCTGTTGTTTCAAACAATAGTGTGGCATCTTAGGAGAGTGACTTTCAGGGTAGGACTCGGAGGGCTGGAAACCAGGTGCCTGGGGATCGGCCCTCTCCTGGCTCTG... |
Task1_train_29037 | Chromosome X houses a mutation in gene ANOS1 (anosmin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; ANOS1-related disorder | CAATGTGCATTCTGTCAGCAGTTTTTCTTCCAAAGAGAAATCATGCCAAGGAGACCACAAGAAAAGCCTTTCACGGGAACTGGCTTCATCTAAGCTGGTGCTTTAGCCACTGAAACTGTAAAACAAATAAATTACAGCACTGACAATTCAAGAAAAAGAAAAAAAAAAGGTACTCTTTCTCCCTGGGAATAGGCTGCTCCGTTTTGTTTTGTTTTCTGTTGTTTCAAACAATAGTGTGGCATCTTAGGAGAGTGACTTTCAGGGTAGGACTCGGAGGGCTGGAAACCAGGTGCCTGGGGATCGGCCCTCTCCTGGCTCTG... | CAATGTGCATTCTGTCAGCAGTTTTTCTTCCAAAGAGAAATCATGCCAAGGAGACCACAAGAAAAGCCTTTCACGGGAACTGGCTTCATCTAAGCTGGTGCTTTAGCCACTGAAACTGTAAAACAAATAAATTACAGCACTGACAATTCAAGAAAAAGAAAAAAAAAAGGTACTCTTTCTCCCTGGGAATAGGCTGCTCCGTTTTGTTTTGTTTTCTGTTGTTTCAAACAATAGTGTGGCATCTTAGGAGAGTGACTTTCAGGGTAGGACTCGGAGGGCTGGAAACCAGGTGCCTGGGGATCGGCCCTCTCCTGGCTCTG... |
Task1_train_29038 | With a mutation on Chromosome X in gene GPR143 (G protein-coupled receptor 143), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ocular albinism, type I | AGTAAGAAACTAAGAGGGCCAGGTGCAATGGCTCCCTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTCTGAGACCAGCCTGGGCAACACAGTGAAATTTGTCTCTACTAAAAATAAAAAATAAAAAAATTAACCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTAATTGGGAGGCTGGGGTGGGAGGATCGCTTGAGCCCAGGAAATCGAGCCTGCAGTGAGCTATGAATGTGCCACTGCACTCCAGCCTGGGGGACAAAGTGAGACCCTGTCTCAGAAAGAAAAAGAAAA... | AGTAAGAAACTAAGAGGGCCAGGTGCAATGGCTCCCTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTCTGAGACCAGCCTGGGCAACACAGTGAAATTTGTCTCTACTAAAAATAAAAAATAAAAAAATTAACCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTAATTGGGAGGCTGGGGTGGGAGGATCGCTTGAGCCCAGGAAATCGAGCCTGCAGTGAGCTATGAATGTGCCACTGCACTCCAGCCTGGGGGACAAAGTGAGACCCTGTCTCAGAAAGAAAAAGAAAA... |
Task1_train_29039 | The following genetic variant occurs in GPR143 (G protein-coupled receptor 143) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Ocular albinism, type I | GGCCCCTTTTACAAGGGCACTGATCCCACTTATGACCTAATAACTTCCCAAAGGCCCTGCCTCCTAATACCATCACCTTAGGGGTTAGAATTTCAATACAGGAATTTTTGGAGGGACAGAAACATTCAGACCATAACAGGAATGAAGCACAGACATGTGACAACACGGATAAACCGTGAAAATGTTACACTGAGTTAAAAACCCAAACACGAAAGGTCACGTACTGTATGATTCCATTGCTATGAAATGTCCAGAACATGCAGCTCCACAGAGACAGAAAGTAGATAAGTGGTTGCTGGGGGCTGTGGGGAGGGGGCAGT... | GGCCCCTTTTACAAGGGCACTGATCCCACTTATGACCTAATAACTTCCCAAAGGCCCTGCCTCCTAATACCATCACCTTAGGGGTTAGAATTTCAATACAGGAATTTTTGGAGGGACAGAAACATTCAGACCATAACAGGAATGAAGCACAGACATGTGACAACACGGATAAACCGTGAAAATGTTACACTGAGTTAAAAACCCAAACACGAAAGGTCACGTACTGTATGATTCCATTGCTATGAAATGTCCAGAACATGCAGCTCCACAGAGACAGAAAGTAGATAAGTGGTTGCTGGGGGCTGTGGGGAGGGGGCAGT... |
Task1_train_29040 | This gene mutation involves GPR143 (G protein-coupled receptor 143) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ocular albinism, type I | GCCTCCTAATACCATCACCTTAGGGGTTAGAATTTCAATACAGGAATTTTTGGAGGGACAGAAACATTCAGACCATAACAGGAATGAAGCACAGACATGTGACAACACGGATAAACCGTGAAAATGTTACACTGAGTTAAAAACCCAAACACGAAAGGTCACGTACTGTATGATTCCATTGCTATGAAATGTCCAGAACATGCAGCTCCACAGAGACAGAAAGTAGATAAGTGGTTGCTGGGGGCTGTGGGGAGGGGGCAGTGAGGAGTGACTAATAACCACCACAGAGATGTAGAGGGGATGATTAAAATGGTGTAACA... | GCCTCCTAATACCATCACCTTAGGGGTTAGAATTTCAATACAGGAATTTTTGGAGGGACAGAAACATTCAGACCATAACAGGAATGAAGCACAGACATGTGACAACACGGATAAACCGTGAAAATGTTACACTGAGTTAAAAACCCAAACACGAAAGGTCACGTACTGTATGATTCCATTGCTATGAAATGTCCAGAACATGCAGCTCCACAGAGACAGAAAGTAGATAAGTGGTTGCTGGGGGCTGTGGGGAGGGGGCAGTGAGGAGTGACTAATAACCACCACAGAGATGTAGAGGGGATGATTAAAATGGTGTAACA... |
Task1_train_29041 | Given this variant in gene GPR143 (G protein-coupled receptor 143) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Ocular albinism, type I | GCCTCCTAATACCATCACCTTAGGGGTTAGAATTTCAATACAGGAATTTTTGGAGGGACAGAAACATTCAGACCATAACAGGAATGAAGCACAGACATGTGACAACACGGATAAACCGTGAAAATGTTACACTGAGTTAAAAACCCAAACACGAAAGGTCACGTACTGTATGATTCCATTGCTATGAAATGTCCAGAACATGCAGCTCCACAGAGACAGAAAGTAGATAAGTGGTTGCTGGGGGCTGTGGGGAGGGGGCAGTGAGGAGTGACTAATAACCACCACAGAGATGTAGAGGGGATGATTAAAATGGTGTAACA... | GCCTCCTAATACCATCACCTTAGGGGTTAGAATTTCAATACAGGAATTTTTGGAGGGACAGAAACATTCAGACCATAACAGGAATGAAGCACAGACATGTGACAACACGGATAAACCGTGAAAATGTTACACTGAGTTAAAAACCCAAACACGAAAGGTCACGTACTGTATGATTCCATTGCTATGAAATGTCCAGAACATGCAGCTCCACAGAGACAGAAAGTAGATAAGTGGTTGCTGGGGGCTGTGGGGAGGGGGCAGTGAGGAGTGACTAATAACCACCACAGAGATGTAGAGGGGATGATTAAAATGGTGTAACA... |
Task1_train_29042 | A change on Chromosome X affects gene GPR143 (G protein-coupled receptor 143). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Nystagmus 6, congenital, X-linked | AGTCCCAGCTACAGACTGAGGAGGCCGAGGTGGAAGAATCGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAACCATACTCTCACCACTGCACTCCAGCCTGGGTGTCAAAGCGAGACCCTGCCTCTAAAAAGTAAAAAATAAACAATAAAATTGTTTATGTACATGCCCATTCTGTTTTAGTATTTGTCCAGTTCCAAATATTTCATTTATTGAATTACTTGCTTTCAAGGTTTTTAAAATCCTCAAGATTTTCTTTTATTATTTTGGAGATGGACTCTCACTAAGTTTCACAGGCTGGTCTCAAACTCCTGGCCTCATG... | AGTCCCAGCTACAGACTGAGGAGGCCGAGGTGGAAGAATCGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAACCATACTCTCACCACTGCACTCCAGCCTGGGTGTCAAAGCGAGACCCTGCCTCTAAAAAGTAAAAAATAAACAATAAAATTGTTTATGTACATGCCCATTCTGTTTTAGTATTTGTCCAGTTCCAAATATTTCATTTATTGAATTACTTGCTTTCAAGGTTTTTAAAATCCTCAAGATTTTCTTTTATTATTTTGGAGATGGACTCTCACTAAGTTTCACAGGCTGGTCTCAAACTCCTGGCCTCATG... |
Task1_train_29043 | The following genetic variant occurs in GPR143 (G protein-coupled receptor 143) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Ocular albinism, type I | TCACTGTAAGTGTTTCTATTATAGACTGCATTTACGCATGGTGGAAATGTTCCAAAAAGCTAAACAGAATGGCCAAATCTAGCTGAGAGGTCTGTATAAAGTGTCACATAATAGTTTAAAGCAGATGTTGGCAAACTCATTCTTAATATTTTTGGCTTTGGGAGCCATACTTTCTCAGTCCAATATTCACCCTGCCCTTGTAGGGTAAAGGCAGCCATGAATAATTCACAAATGCACATGAACAACATAGCTGCGTTCCCATCAAACTTTATTTGTAGACATTAACATTTAAATTTCAGTAATAGTCACATGCCAGGAAA... | TCACTGTAAGTGTTTCTATTATAGACTGCATTTACGCATGGTGGAAATGTTCCAAAAAGCTAAACAGAATGGCCAAATCTAGCTGAGAGGTCTGTATAAAGTGTCACATAATAGTTTAAAGCAGATGTTGGCAAACTCATTCTTAATATTTTTGGCTTTGGGAGCCATACTTTCTCAGTCCAATATTCACCCTGCCCTTGTAGGGTAAAGGCAGCCATGAATAATTCACAAATGCACATGAACAACATAGCTGCGTTCCCATCAAACTTTATTTGTAGACATTAACATTTAAATTTCAGTAATAGTCACATGCCAGGAAA... |
Task1_train_29044 | Here is a mutation in GPR143 (G protein-coupled receptor 143) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | GTCACATAATAGTTTAAAGCAGATGTTGGCAAACTCATTCTTAATATTTTTGGCTTTGGGAGCCATACTTTCTCAGTCCAATATTCACCCTGCCCTTGTAGGGTAAAGGCAGCCATGAATAATTCACAAATGCACATGAACAACATAGCTGCGTTCCCATCAAACTTTATTTGTAGACATTAACATTTAAATTTCAGTAATAGTCACATGCCAGGAAATATTTTTTAATTTTGATTTTTAAAAACATTTTAGGGCTGGGTGAGGTGGCTCACGCCTGTAATCCTAACACTTTACGATGCCAAGGGTGGTGATCTTTTAAT... | GTCACATAATAGTTTAAAGCAGATGTTGGCAAACTCATTCTTAATATTTTTGGCTTTGGGAGCCATACTTTCTCAGTCCAATATTCACCCTGCCCTTGTAGGGTAAAGGCAGCCATGAATAATTCACAAATGCACATGAACAACATAGCTGCGTTCCCATCAAACTTTATTTGTAGACATTAACATTTAAATTTCAGTAATAGTCACATGCCAGGAAATATTTTTTAATTTTGATTTTTAAAAACATTTTAGGGCTGGGTGAGGTGGCTCACGCCTGTAATCCTAACACTTTACGATGCCAAGGGTGGTGATCTTTTAAT... |
Task1_train_29045 | This genomic variant is located on Chromosome X, within the GPR143 (G protein-coupled receptor 143) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | TCACATAATAGTTTAAAGCAGATGTTGGCAAACTCATTCTTAATATTTTTGGCTTTGGGAGCCATACTTTCTCAGTCCAATATTCACCCTGCCCTTGTAGGGTAAAGGCAGCCATGAATAATTCACAAATGCACATGAACAACATAGCTGCGTTCCCATCAAACTTTATTTGTAGACATTAACATTTAAATTTCAGTAATAGTCACATGCCAGGAAATATTTTTTAATTTTGATTTTTAAAAACATTTTAGGGCTGGGTGAGGTGGCTCACGCCTGTAATCCTAACACTTTACGATGCCAAGGGTGGTGATCTTTTAATT... | TCACATAATAGTTTAAAGCAGATGTTGGCAAACTCATTCTTAATATTTTTGGCTTTGGGAGCCATACTTTCTCAGTCCAATATTCACCCTGCCCTTGTAGGGTAAAGGCAGCCATGAATAATTCACAAATGCACATGAACAACATAGCTGCGTTCCCATCAAACTTTATTTGTAGACATTAACATTTAAATTTCAGTAATAGTCACATGCCAGGAAATATTTTTTAATTTTGATTTTTAAAAACATTTTAGGGCTGGGTGAGGTGGCTCACGCCTGTAATCCTAACACTTTACGATGCCAAGGGTGGTGATCTTTTAATT... |
Task1_train_29046 | This variant impacts the gene CLCN4 (chloride voltage-gated channel 4) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; CLCN4-related disorder | ATATCATTGGAATGTTGAGCGTCTTCTTCATTTTCTACTGTTGTATTAAGAATATTTTCAAACATACAGAAAAGTTGAAAGAATTGGACAGTAAAAATTCATTAATTCATTGCCTCCAGCAGGGGTTGGCAAACTTTTCCTATAAAAGAAAGAGAGTCAATATATTAGGCCTTGGAGGCCAATGGGCAAGATGGAGCAACTATTCTCACCAGAAAGCTAGTAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTACATACTACTTTTAAAAATGTTAAAACTACACTTGGCTCGTGGGTCATACAAAAATAGG... | ATATCATTGGAATGTTGAGCGTCTTCTTCATTTTCTACTGTTGTATTAAGAATATTTTCAAACATACAGAAAAGTTGAAAGAATTGGACAGTAAAAATTCATTAATTCATTGCCTCCAGCAGGGGTTGGCAAACTTTTCCTATAAAAGAAAGAGAGTCAATATATTAGGCCTTGGAGGCCAATGGGCAAGATGGAGCAACTATTCTCACCAGAAAGCTAGTAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTACATACTACTTTTAAAAATGTTAAAACTACACTTGGCTCGTGGGTCATACAAAAATAGG... |
Task1_train_29047 | Gene CLCN4 (chloride voltage-gated channel 4) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Intellectual disability, X-linked 49 | TTCATTTTCTACTGTTGTATTAAGAATATTTTCAAACATACAGAAAAGTTGAAAGAATTGGACAGTAAAAATTCATTAATTCATTGCCTCCAGCAGGGGTTGGCAAACTTTTCCTATAAAAGAAAGAGAGTCAATATATTAGGCCTTGGAGGCCAATGGGCAAGATGGAGCAACTATTCTCACCAGAAAGCTAGTAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTACATACTACTTTTAAAAATGTTAAAACTACACTTGGCTCGTGGGTCATACAAAAATAGGTAGTGGGCCAGATTTGGACCACAGTC... | TTCATTTTCTACTGTTGTATTAAGAATATTTTCAAACATACAGAAAAGTTGAAAGAATTGGACAGTAAAAATTCATTAATTCATTGCCTCCAGCAGGGGTTGGCAAACTTTTCCTATAAAAGAAAGAGAGTCAATATATTAGGCCTTGGAGGCCAATGGGCAAGATGGAGCAACTATTCTCACCAGAAAGCTAGTAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTACATACTACTTTTAAAAATGTTAAAACTACACTTGGCTCGTGGGTCATACAAAAATAGGTAGTGGGCCAGATTTGGACCACAGTC... |
Task1_train_29048 | Chromosome X houses a mutation in gene CLCN4 (chloride voltage-gated channel 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; CLCN4-related disorder | TCATTTTCTACTGTTGTATTAAGAATATTTTCAAACATACAGAAAAGTTGAAAGAATTGGACAGTAAAAATTCATTAATTCATTGCCTCCAGCAGGGGTTGGCAAACTTTTCCTATAAAAGAAAGAGAGTCAATATATTAGGCCTTGGAGGCCAATGGGCAAGATGGAGCAACTATTCTCACCAGAAAGCTAGTAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTACATACTACTTTTAAAAATGTTAAAACTACACTTGGCTCGTGGGTCATACAAAAATAGGTAGTGGGCCAGATTTGGACCACAGTCT... | TCATTTTCTACTGTTGTATTAAGAATATTTTCAAACATACAGAAAAGTTGAAAGAATTGGACAGTAAAAATTCATTAATTCATTGCCTCCAGCAGGGGTTGGCAAACTTTTCCTATAAAAGAAAGAGAGTCAATATATTAGGCCTTGGAGGCCAATGGGCAAGATGGAGCAACTATTCTCACCAGAAAGCTAGTAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTACATACTACTTTTAAAAATGTTAAAACTACACTTGGCTCGTGGGTCATACAAAAATAGGTAGTGGGCCAGATTTGGACCACAGTCT... |
Task1_train_29049 | Chromosome X houses a mutation in gene CLCN4 (chloride voltage-gated channel 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; CLCN4-related disorder | GTAGTGGGCCAGATTTGGACCACAGTCTGTAGTTTGTCAACCCCTGACCTAAAGTTCAACTGTCATTTTGCTCTTGTAGGGGCAAACACCTTTTTAGGGGTTTGCGGCTGGGCCTGCGAATTAAATTGACATATAAGACAGATCAACAGGAGAAAAGCATACATGTTTATTTAATGAATTTTACATGACATGGGAGCCTTCATAAGGAGTGAAGACCCAAAGATGAAGTTAGGGTTGAATACTTATGTGCTGAATTGGACGAGTAGTAATCTATGAAAGTGTGACGAGGCAGAGGAGCCTGGGCTGGGGGGTTAGCTGGG... | GTAGTGGGCCAGATTTGGACCACAGTCTGTAGTTTGTCAACCCCTGACCTAAAGTTCAACTGTCATTTTGCTCTTGTAGGGGCAAACACCTTTTTAGGGGTTTGCGGCTGGGCCTGCGAATTAAATTGACATATAAGACAGATCAACAGGAGAAAAGCATACATGTTTATTTAATGAATTTTACATGACATGGGAGCCTTCATAAGGAGTGAAGACCCAAAGATGAAGTTAGGGTTGAATACTTATGTGCTGAATTGGACGAGTAGTAATCTATGAAAGTGTGACGAGGCAGAGGAGCCTGGGCTGGGGGGTTAGCTGGG... |
Task1_train_29050 | This genomic variant is located on Chromosome X, within the CLCN4 (chloride voltage-gated channel 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; CLCN4-related disorder | GGCTGGCATCATTGCAGCTGCTGCCCATGGTCAGCGGTCACGTGTCATTTCAGCGAACACAGGGAGTCAGGCTTGTTCTATAGTACATGTGTGGTCATTAGATAAACTAAAATGTATCTTCATCCAGCAGGGTAGAGAACACGCTGGTACCAAGATCTCTTAGTTTACATTCTATTTCTTTGCTGCCCCTATCCTGGCTTGAAAATATTCAGAATACTTATTAGAAAATGTACTTCATTAGGAAGAGGGAATTGCCTCCCTCGTCTCTCTCTGACAGGTATTCAGCTACCACCTACTAGAGAGGGCAGGGAGCCATTGAA... | GGCTGGCATCATTGCAGCTGCTGCCCATGGTCAGCGGTCACGTGTCATTTCAGCGAACACAGGGAGTCAGGCTTGTTCTATAGTACATGTGTGGTCATTAGATAAACTAAAATGTATCTTCATCCAGCAGGGTAGAGAACACGCTGGTACCAAGATCTCTTAGTTTACATTCTATTTCTTTGCTGCCCCTATCCTGGCTTGAAAATATTCAGAATACTTATTAGAAAATGTACTTCATTAGGAAGAGGGAATTGCCTCCCTCGTCTCTCTCTGACAGGTATTCAGCTACCACCTACTAGAGAGGGCAGGGAGCCATTGAA... |
Task1_train_29051 | Given this context: Chromosome X, gene CLCN4 (chloride voltage-gated channel 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Intellectual disability, X-linked 49 | GCATCATTGCAGCTGCTGCCCATGGTCAGCGGTCACGTGTCATTTCAGCGAACACAGGGAGTCAGGCTTGTTCTATAGTACATGTGTGGTCATTAGATAAACTAAAATGTATCTTCATCCAGCAGGGTAGAGAACACGCTGGTACCAAGATCTCTTAGTTTACATTCTATTTCTTTGCTGCCCCTATCCTGGCTTGAAAATATTCAGAATACTTATTAGAAAATGTACTTCATTAGGAAGAGGGAATTGCCTCCCTCGTCTCTCTCTGACAGGTATTCAGCTACCACCTACTAGAGAGGGCAGGGAGCCATTGAAGTGCT... | GCATCATTGCAGCTGCTGCCCATGGTCAGCGGTCACGTGTCATTTCAGCGAACACAGGGAGTCAGGCTTGTTCTATAGTACATGTGTGGTCATTAGATAAACTAAAATGTATCTTCATCCAGCAGGGTAGAGAACACGCTGGTACCAAGATCTCTTAGTTTACATTCTATTTCTTTGCTGCCCCTATCCTGGCTTGAAAATATTCAGAATACTTATTAGAAAATGTACTTCATTAGGAAGAGGGAATTGCCTCCCTCGTCTCTCTCTGACAGGTATTCAGCTACCACCTACTAGAGAGGGCAGGGAGCCATTGAAGTGCT... |
Task1_train_29052 | This sequence change occurs on Chromosome X, altering CLCN4 (chloride voltage-gated channel 4). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Intellectual disability, X-linked 49 | GTCAGCGGTCACGTGTCATTTCAGCGAACACAGGGAGTCAGGCTTGTTCTATAGTACATGTGTGGTCATTAGATAAACTAAAATGTATCTTCATCCAGCAGGGTAGAGAACACGCTGGTACCAAGATCTCTTAGTTTACATTCTATTTCTTTGCTGCCCCTATCCTGGCTTGAAAATATTCAGAATACTTATTAGAAAATGTACTTCATTAGGAAGAGGGAATTGCCTCCCTCGTCTCTCTCTGACAGGTATTCAGCTACCACCTACTAGAGAGGGCAGGGAGCCATTGAAGTGCTTTCTGGAAGATCCAGGGTGGCTGC... | GTCAGCGGTCACGTGTCATTTCAGCGAACACAGGGAGTCAGGCTTGTTCTATAGTACATGTGTGGTCATTAGATAAACTAAAATGTATCTTCATCCAGCAGGGTAGAGAACACGCTGGTACCAAGATCTCTTAGTTTACATTCTATTTCTTTGCTGCCCCTATCCTGGCTTGAAAATATTCAGAATACTTATTAGAAAATGTACTTCATTAGGAAGAGGGAATTGCCTCCCTCGTCTCTCTCTGACAGGTATTCAGCTACCACCTACTAGAGAGGGCAGGGAGCCATTGAAGTGCTTTCTGGAAGATCCAGGGTGGCTGC... |
Task1_train_29053 | A genetic alteration is present in CLCN4 (chloride voltage-gated channel 4) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; CLCN4-related disorder | GTCAGCGGTCACGTGTCATTTCAGCGAACACAGGGAGTCAGGCTTGTTCTATAGTACATGTGTGGTCATTAGATAAACTAAAATGTATCTTCATCCAGCAGGGTAGAGAACACGCTGGTACCAAGATCTCTTAGTTTACATTCTATTTCTTTGCTGCCCCTATCCTGGCTTGAAAATATTCAGAATACTTATTAGAAAATGTACTTCATTAGGAAGAGGGAATTGCCTCCCTCGTCTCTCTCTGACAGGTATTCAGCTACCACCTACTAGAGAGGGCAGGGAGCCATTGAAGTGCTTTCTGGAAGATCCAGGGTGGCTGC... | GTCAGCGGTCACGTGTCATTTCAGCGAACACAGGGAGTCAGGCTTGTTCTATAGTACATGTGTGGTCATTAGATAAACTAAAATGTATCTTCATCCAGCAGGGTAGAGAACACGCTGGTACCAAGATCTCTTAGTTTACATTCTATTTCTTTGCTGCCCCTATCCTGGCTTGAAAATATTCAGAATACTTATTAGAAAATGTACTTCATTAGGAAGAGGGAATTGCCTCCCTCGTCTCTCTCTGACAGGTATTCAGCTACCACCTACTAGAGAGGGCAGGGAGCCATTGAAGTGCTTTCTGGAAGATCCAGGGTGGCTGC... |
Task1_train_29054 | A genomic change on Chromosome X affects CLCN4 (chloride voltage-gated channel 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | TGACCCTAGCTGATGCCTATATTTTTGCTTGGCAGTAAATACCTTGTGTGCTTTCCTTCCTGATGCCTCCTATGTGAGATAGGTTCAGTTTTATGTGGCAGGCAGAACCAGATACACTGACATTTAGTAGACCTACTCATCCGTTCATTCATATGTGCATTTGGCAAATATCTGTTTTGTGTCTACTGTGTGTTAGGCATTGTCCAGGCACTGGGAGTGCACTGGTGAGCAAGAGTTCATTGAGCTAGTGGCTGTTAGAATCAGGGCTTCTAACCCAATCAGTAGGTTCAAAGGAGATATAAGCATGTTATTTATTTTAT... | TGACCCTAGCTGATGCCTATATTTTTGCTTGGCAGTAAATACCTTGTGTGCTTTCCTTCCTGATGCCTCCTATGTGAGATAGGTTCAGTTTTATGTGGCAGGCAGAACCAGATACACTGACATTTAGTAGACCTACTCATCCGTTCATTCATATGTGCATTTGGCAAATATCTGTTTTGTGTCTACTGTGTGTTAGGCATTGTCCAGGCACTGGGAGTGCACTGGTGAGCAAGAGTTCATTGAGCTAGTGGCTGTTAGAATCAGGGCTTCTAACCCAATCAGTAGGTTCAAAGGAGATATAAGCATGTTATTTATTTTAT... |
Task1_train_29055 | The variant affects gene CLCN4 (chloride voltage-gated channel 4), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Intellectual disability, X-linked 49 | TGACCCTAGCTGATGCCTATATTTTTGCTTGGCAGTAAATACCTTGTGTGCTTTCCTTCCTGATGCCTCCTATGTGAGATAGGTTCAGTTTTATGTGGCAGGCAGAACCAGATACACTGACATTTAGTAGACCTACTCATCCGTTCATTCATATGTGCATTTGGCAAATATCTGTTTTGTGTCTACTGTGTGTTAGGCATTGTCCAGGCACTGGGAGTGCACTGGTGAGCAAGAGTTCATTGAGCTAGTGGCTGTTAGAATCAGGGCTTCTAACCCAATCAGTAGGTTCAAAGGAGATATAAGCATGTTATTTATTTTAT... | TGACCCTAGCTGATGCCTATATTTTTGCTTGGCAGTAAATACCTTGTGTGCTTTCCTTCCTGATGCCTCCTATGTGAGATAGGTTCAGTTTTATGTGGCAGGCAGAACCAGATACACTGACATTTAGTAGACCTACTCATCCGTTCATTCATATGTGCATTTGGCAAATATCTGTTTTGTGTCTACTGTGTGTTAGGCATTGTCCAGGCACTGGGAGTGCACTGGTGAGCAAGAGTTCATTGAGCTAGTGGCTGTTAGAATCAGGGCTTCTAACCCAATCAGTAGGTTCAAAGGAGATATAAGCATGTTATTTATTTTAT... |
Task1_train_29056 | Here is a mutation in LOC126863207, MID1 (BRD4-independent group 4 enhancer GRCh37_chrX:10416979-10418178| midline 1) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; X-linked Opitz G/BBB syndrome | GTTACCCAAAATGTATGTAAAAATTACTGAGACAACCCTTTCAGTTTACTCAGAGAAGGCAAACACACATTGCTTTTATATTGTAATAAAAAGAAAAACCTATAAGGTTTCCAGAGAAAGATTGTTTTTTTTCCATTGAGGCGTCCATCTTTTAGATGTGAAATTGTCTTAGGTATCTATCAAAATATTCATCTGGGTATAAATAATATAGTAAATATATAGAATCTATCTGTTAAGAAAAAGGAGAGTGTCTGCTAGGGAAGAGGATGGAAGGACCCAGGAAGCTGGCTTGGCCTCCCTTGAAATCCAGATTTGCAATC... | GTTACCCAAAATGTATGTAAAAATTACTGAGACAACCCTTTCAGTTTACTCAGAGAAGGCAAACACACATTGCTTTTATATTGTAATAAAAAGAAAAACCTATAAGGTTTCCAGAGAAAGATTGTTTTTTTTCCATTGAGGCGTCCATCTTTTAGATGTGAAATTGTCTTAGGTATCTATCAAAATATTCATCTGGGTATAAATAATATAGTAAATATATAGAATCTATCTGTTAAGAAAAAGGAGAGTGTCTGCTAGGGAAGAGGATGGAAGGACCCAGGAAGCTGGCTTGGCCTCCCTTGAAATCCAGATTTGCAATC... |
Task1_train_29057 | The gene LOC126863207, MID1 (BRD4-independent group 4 enhancer GRCh37_chrX:10416979-10418178| midline 1) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not specified | ATATATAGAATCTATCTGTTAAGAAAAAGGAGAGTGTCTGCTAGGGAAGAGGATGGAAGGACCCAGGAAGCTGGCTTGGCCTCCCTTGAAATCCAGATTTGCAATCACATGACCTTTGGCCACGTGATGCTGAAACAATGAGTTCATTGACTTATTTCAGGGAGGCAGTTGGTTGATTTGGTTAAAAACAAAATAACTAAAAACAATGTCTAAATCCACTAGTCTGCTCAGTCAAAATGGCTGACCCAGTATCCCAGGTAAATATTTTAGCAATTGAAACCATTTATAGAGGTCATGCCCTTCATCAAACTAGAACCAAT... | ATATATAGAATCTATCTGTTAAGAAAAAGGAGAGTGTCTGCTAGGGAAGAGGATGGAAGGACCCAGGAAGCTGGCTTGGCCTCCCTTGAAATCCAGATTTGCAATCACATGACCTTTGGCCACGTGATGCTGAAACAATGAGTTCATTGACTTATTTCAGGGAGGCAGTTGGTTGATTTGGTTAAAAACAAAATAACTAAAAACAATGTCTAAATCCACTAGTCTGCTCAGTCAAAATGGCTGACCCAGTATCCCAGGTAAATATTTTAGCAATTGAAACCATTTATAGAGGTCATGCCCTTCATCAAACTAGAACCAAT... |
Task1_train_29058 | This variant impacts the gene LOC126863207, MID1 (BRD4-independent group 4 enhancer GRCh37_chrX:10416979-10418178| midline 1) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; X-linked Opitz G/BBB syndrome | ATATATAGAATCTATCTGTTAAGAAAAAGGAGAGTGTCTGCTAGGGAAGAGGATGGAAGGACCCAGGAAGCTGGCTTGGCCTCCCTTGAAATCCAGATTTGCAATCACATGACCTTTGGCCACGTGATGCTGAAACAATGAGTTCATTGACTTATTTCAGGGAGGCAGTTGGTTGATTTGGTTAAAAACAAAATAACTAAAAACAATGTCTAAATCCACTAGTCTGCTCAGTCAAAATGGCTGACCCAGTATCCCAGGTAAATATTTTAGCAATTGAAACCATTTATAGAGGTCATGCCCTTCATCAAACTAGAACCAAT... | ATATATAGAATCTATCTGTTAAGAAAAAGGAGAGTGTCTGCTAGGGAAGAGGATGGAAGGACCCAGGAAGCTGGCTTGGCCTCCCTTGAAATCCAGATTTGCAATCACATGACCTTTGGCCACGTGATGCTGAAACAATGAGTTCATTGACTTATTTCAGGGAGGCAGTTGGTTGATTTGGTTAAAAACAAAATAACTAAAAACAATGTCTAAATCCACTAGTCTGCTCAGTCAAAATGGCTGACCCAGTATCCCAGGTAAATATTTTAGCAATTGAAACCATTTATAGAGGTCATGCCCTTCATCAAACTAGAACCAAT... |
Task1_train_29059 | A genomic change on Chromosome X affects MID1 (midline 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; X-linked Opitz G/BBB syndrome | CCTGTTTGATTTAAACTCTTCAATCTCTCCACCAATCATTGGTATACAAAGAAACTCCCTGGTGTGGCCCAGGAGGCTTTCGCGATCTGTTCTTGTCTCCAGCCTCCTGGCTCACCTATCCTCCCAACCTAAGACACACTTTAACCACATGGATCAATTTTCTGTTCCATAAATATATTCTCCTTGTCTCTGGGCTTTTGCCCATGCTGTTCCTTCTGCATGGAACACTGTGTCCTCACATCCCCTGCTCCTAACCTACCTTGGAAAGCCTCTCAAGGTTGTGCTGGGGCACCCTGGCTTTGTCAACTTAGAACCTCTCA... | CCTGTTTGATTTAAACTCTTCAATCTCTCCACCAATCATTGGTATACAAAGAAACTCCCTGGTGTGGCCCAGGAGGCTTTCGCGATCTGTTCTTGTCTCCAGCCTCCTGGCTCACCTATCCTCCCAACCTAAGACACACTTTAACCACATGGATCAATTTTCTGTTCCATAAATATATTCTCCTTGTCTCTGGGCTTTTGCCCATGCTGTTCCTTCTGCATGGAACACTGTGTCCTCACATCCCCTGCTCCTAACCTACCTTGGAAAGCCTCTCAAGGTTGTGCTGGGGCACCCTGGCTTTGTCAACTTAGAACCTCTCA... |
Task1_train_29060 | Given a variant located on Chromosome X and affecting MID1 (midline 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; X-linked Opitz G/BBB syndrome | CCTAGGTACACTGGAGTATTAGTGCTATTTGCAGTTTTTAACTTTAGGGTGAATATTGAGCAACTGGATATGGCCCAGGGAAAATAAACATTTGGAACCAAGGAATCAGGAGGAAAGAAATGGGCCTCTCAGAGTAAGGAGGAGAGCATCTTAAGTACATAACAGGGATGATAGCCAGCTGTTATCCATGCCTTTTAGAAGAGATAAGTATCTAATCAGCTACAAAAGGAATTTTCCTCAAATATAAGAAATAATACAGTCAAGCCGATTGGACAGTAGACCAGAGTTGTAAAAACACGATACATTACTCTTTAAGAAGA... | CCTAGGTACACTGGAGTATTAGTGCTATTTGCAGTTTTTAACTTTAGGGTGAATATTGAGCAACTGGATATGGCCCAGGGAAAATAAACATTTGGAACCAAGGAATCAGGAGGAAAGAAATGGGCCTCTCAGAGTAAGGAGGAGAGCATCTTAAGTACATAACAGGGATGATAGCCAGCTGTTATCCATGCCTTTTAGAAGAGATAAGTATCTAATCAGCTACAAAAGGAATTTTCCTCAAATATAAGAAATAATACAGTCAAGCCGATTGGACAGTAGACCAGAGTTGTAAAAACACGATACATTACTCTTTAAGAAGA... |
Task1_train_29061 | This is a variant in HCCS (holocytochrome c synthase), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | GCTAAAGTCCACTTAATGATTTTTTTAAGGTGTTTTGTTTGTTTTTAATATTTGCACTCTGAAGTTCATTGGTTGCACTCCCTGGCTGTCACAGGCTGGGCCTCAGGCCTGGGGTGGGTGCATGTGAGAGGGGAACAACTGCAACCGTGTTGCCCTCAGTAATCTCTGGACTGAGAGGAGCCACAAGTGTTTGCAGTGACCTACTTTGAAAGTGTGTTCTAATTAAGACCACCTGCTAATTACTTGTGTGATTATGGAGCAAAGCGAAGAGAGAAAAGGGAATTTCAGTTTGTCAGTTTCAATTCCTTCTCCAGTTATTT... | GCTAAAGTCCACTTAATGATTTTTTTAAGGTGTTTTGTTTGTTTTTAATATTTGCACTCTGAAGTTCATTGGTTGCACTCCCTGGCTGTCACAGGCTGGGCCTCAGGCCTGGGGTGGGTGCATGTGAGAGGGGAACAACTGCAACCGTGTTGCCCTCAGTAATCTCTGGACTGAGAGGAGCCACAAGTGTTTGCAGTGACCTACTTTGAAAGTGTGTTCTAATTAAGACCACCTGCTAATTACTTGTGTGATTATGGAGCAAAGCGAAGAGAGAAAAGGGAATTTCAGTTTGTCAGTTTCAATTCCTTCTCCAGTTATTT... |
Task1_train_29062 | Assess the clinical impact of this variant on gene HCCS (holocytochrome c synthase), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; HCCS-related disorder | CTTAATGATTTTTTTAAGGTGTTTTGTTTGTTTTTAATATTTGCACTCTGAAGTTCATTGGTTGCACTCCCTGGCTGTCACAGGCTGGGCCTCAGGCCTGGGGTGGGTGCATGTGAGAGGGGAACAACTGCAACCGTGTTGCCCTCAGTAATCTCTGGACTGAGAGGAGCCACAAGTGTTTGCAGTGACCTACTTTGAAAGTGTGTTCTAATTAAGACCACCTGCTAATTACTTGTGTGATTATGGAGCAAAGCGAAGAGAGAAAAGGGAATTTCAGTTTGTCAGTTTCAATTCCTTCTCCAGTTATTTTCTGGACGGTC... | CTTAATGATTTTTTTAAGGTGTTTTGTTTGTTTTTAATATTTGCACTCTGAAGTTCATTGGTTGCACTCCCTGGCTGTCACAGGCTGGGCCTCAGGCCTGGGGTGGGTGCATGTGAGAGGGGAACAACTGCAACCGTGTTGCCCTCAGTAATCTCTGGACTGAGAGGAGCCACAAGTGTTTGCAGTGACCTACTTTGAAAGTGTGTTCTAATTAAGACCACCTGCTAATTACTTGTGTGATTATGGAGCAAAGCGAAGAGAGAAAAGGGAATTTCAGTTTGTCAGTTTCAATTCCTTCTCCAGTTATTTTCTGGACGGTC... |
Task1_train_29063 | This sequence variant lies in AMELX, ARHGAP6 (amelogenin X-linked| Rho GTPase activating protein 6) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Amelogenesis imperfecta type 1E | TTGCTACTGCAAGAACCTTAAGTTCCTGATTGTTTTTACGGTAGATGGGTTTCAGCATGGGGCCGAGAAGGGGCTTTGTCCCCTGTTTTGGTGGACACCAGAGGGGTGATAAAGGAGTAGCCAAGGGGAACAGAGAAAAAATACCTTCAATGGAAGCAGATAATAGAGCAGTGGTGATCCCAAAATTATAATTCCTCAGAGAGAAACTAGAGAGAGCTTTGGGGTTTTACCCAAATGGGAATTTGAATCAATTTCTCCTGATCTGAAAGGGCTGGAAAAATCCTGGAGGATATCCAGATTACACTAGAGAATCTCAACCA... | TTGCTACTGCAAGAACCTTAAGTTCCTGATTGTTTTTACGGTAGATGGGTTTCAGCATGGGGCCGAGAAGGGGCTTTGTCCCCTGTTTTGGTGGACACCAGAGGGGTGATAAAGGAGTAGCCAAGGGGAACAGAGAAAAAATACCTTCAATGGAAGCAGATAATAGAGCAGTGGTGATCCCAAAATTATAATTCCTCAGAGAGAAACTAGAGAGAGCTTTGGGGTTTTACCCAAATGGGAATTTGAATCAATTTCTCCTGATCTGAAAGGGCTGGAAAAATCCTGGAGGATATCCAGATTACACTAGAGAATCTCAACCA... |
Task1_train_29064 | Chromosome X houses a mutation in gene AMELX, ARHGAP6 (amelogenin X-linked| Rho GTPase activating protein 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Amelogenesis imperfecta type 1E | CAAGAACCTTAAGTTCCTGATTGTTTTTACGGTAGATGGGTTTCAGCATGGGGCCGAGAAGGGGCTTTGTCCCCTGTTTTGGTGGACACCAGAGGGGTGATAAAGGAGTAGCCAAGGGGAACAGAGAAAAAATACCTTCAATGGAAGCAGATAATAGAGCAGTGGTGATCCCAAAATTATAATTCCTCAGAGAGAAACTAGAGAGAGCTTTGGGGTTTTACCCAAATGGGAATTTGAATCAATTTCTCCTGATCTGAAAGGGCTGGAAAAATCCTGGAGGATATCCAGATTACACTAGAGAATCTCAACCACCTACCTTG... | CAAGAACCTTAAGTTCCTGATTGTTTTTACGGTAGATGGGTTTCAGCATGGGGCCGAGAAGGGGCTTTGTCCCCTGTTTTGGTGGACACCAGAGGGGTGATAAAGGAGTAGCCAAGGGGAACAGAGAAAAAATACCTTCAATGGAAGCAGATAATAGAGCAGTGGTGATCCCAAAATTATAATTCCTCAGAGAGAAACTAGAGAGAGCTTTGGGGTTTTACCCAAATGGGAATTTGAATCAATTTCTCCTGATCTGAAAGGGCTGGAAAAATCCTGGAGGATATCCAGATTACACTAGAGAATCTCAACCACCTACCTTG... |
Task1_train_29065 | A genomic change on Chromosome X affects AMELX, ARHGAP6 (amelogenin X-linked| Rho GTPase activating protein 6). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Amelogenesis imperfecta type 1E | TTTTGTGGCTTCTTTTGTTGTATGGAAGTGTTGTTTACTTTGCATGTCAATTATGAGAAATCCCTTTGATACTTAAAAGTACTTGACCACCTCCTGATCTACAAGGGAACATTCGTGAGACAATTCTCTCCTTGTTGATATTTCTTTATTGTGAAAGAGAAACACACTTCTCTCCCCATTATGGGGTGAGTTTTATCAGCAAGTAAACTGTTGGGCAGGATAGGGTAGGATTCATTGAAAACACTGGGCGTGGGGGTGGGATGCTGTCCAAAGATCACTGGAGAATAAATGTGTGCTGGTTTCTGCTTCCAGGTCTCCAG... | TTTTGTGGCTTCTTTTGTTGTATGGAAGTGTTGTTTACTTTGCATGTCAATTATGAGAAATCCCTTTGATACTTAAAAGTACTTGACCACCTCCTGATCTACAAGGGAACATTCGTGAGACAATTCTCTCCTTGTTGATATTTCTTTATTGTGAAAGAGAAACACACTTCTCTCCCCATTATGGGGTGAGTTTTATCAGCAAGTAAACTGTTGGGCAGGATAGGGTAGGATTCATTGAAAACACTGGGCGTGGGGGTGGGATGCTGTCCAAAGATCACTGGAGAATAAATGTGTGCTGGTTTCTGCTTCCAGGTCTCCAG... |
Task1_train_29066 | A genetic alteration is present in AMELX, ARHGAP6 (amelogenin X-linked| Rho GTPase activating protein 6) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | GGCTATAACCCCAGGAACAGTCATTTAGCTGTTCTGAACCTCTTTAAAATAAAAGGTCTCCTCTTCTATACAGCACATTTGTTCAAACTAAAAACAGACCTCAAGTATATTCTGCACTATATAGATTTTTTTAAAGTAGCTTCAGTCTCCTTTAATGTGAACAATTGCATACTGACTTAATCTCTTCCTCTCTCTTCTCTTCCTTCACTCTCTCCCTTCCTCTCTCTTTCTATTCTCCTCCCCTCCTCCCTGTAAAAGCTACCACCTCATCCTGGGCACCCTGGTTATATCAACTTCAGCTATGAGGTAATTTTTCTCTT... | GGCTATAACCCCAGGAACAGTCATTTAGCTGTTCTGAACCTCTTTAAAATAAAAGGTCTCCTCTTCTATACAGCACATTTGTTCAAACTAAAAACAGACCTCAAGTATATTCTGCACTATATAGATTTTTTTAAAGTAGCTTCAGTCTCCTTTAATGTGAACAATTGCATACTGACTTAATCTCTTCCTCTCTCTTCTCTTCCTTCACTCTCTCCCTTCCTCTCTCTTTCTATTCTCCTCCCCTCCTCCCTGTAAAAGCTACCACCTCATCCTGGGCACCCTGGTTATATCAACTTCAGCTATGAGGTAATTTTTCTCTT... |
Task1_train_29067 | This variant impacts the gene MSL3 (MSL complex subunit 3) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Neurodevelopmental abnormality | ATTTAAAACTGCCCTATTAAAAATCGGCAACTTCATTGTGAACATTTGGAAAGTACCTCTTACTTGTGTCTCTAATCTCTTCTTTTTAATCCTCCCAGTGTTGACCTTTGTAAGGAGATGGTGGATGGATTAAGAATAACCTTTGATTACACTCTCCCGTTGGTTTTACTCTATCCATATGAACAAGCTCAGTATAAAAAGGTGACTTCGTCTAAATTTTTTCTTCCAATTAAGGAAAGTGCCACAAGCACTAACAGGTAAGTTATATAGCCTGCACTTTCACCCTCACATGTCAGCAGTACAATGATCAGATCCTTGTT... | ATTTAAAACTGCCCTATTAAAAATCGGCAACTTCATTGTGAACATTTGGAAAGTACCTCTTACTTGTGTCTCTAATCTCTTCTTTTTAATCCTCCCAGTGTTGACCTTTGTAAGGAGATGGTGGATGGATTAAGAATAACCTTTGATTACACTCTCCCGTTGGTTTTACTCTATCCATATGAACAAGCTCAGTATAAAAAGGTGACTTCGTCTAAATTTTTTCTTCCAATTAAGGAAAGTGCCACAAGCACTAACAGGTAAGTTATATAGCCTGCACTTTCACCCTCACATGTCAGCAGTACAATGATCAGATCCTTGTT... |
Task1_train_29068 | The gene MSL3 (MSL complex subunit 3), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; X-linked neurodevelopmental delay, dysmorphism, and progressive neurological disorder | TTTAAAACTGCCCTATTAAAAATCGGCAACTTCATTGTGAACATTTGGAAAGTACCTCTTACTTGTGTCTCTAATCTCTTCTTTTTAATCCTCCCAGTGTTGACCTTTGTAAGGAGATGGTGGATGGATTAAGAATAACCTTTGATTACACTCTCCCGTTGGTTTTACTCTATCCATATGAACAAGCTCAGTATAAAAAGGTGACTTCGTCTAAATTTTTTCTTCCAATTAAGGAAAGTGCCACAAGCACTAACAGGTAAGTTATATAGCCTGCACTTTCACCCTCACATGTCAGCAGTACAATGATCAGATCCTTGTTT... | TTTAAAACTGCCCTATTAAAAATCGGCAACTTCATTGTGAACATTTGGAAAGTACCTCTTACTTGTGTCTCTAATCTCTTCTTTTTAATCCTCCCAGTGTTGACCTTTGTAAGGAGATGGTGGATGGATTAAGAATAACCTTTGATTACACTCTCCCGTTGGTTTTACTCTATCCATATGAACAAGCTCAGTATAAAAAGGTGACTTCGTCTAAATTTTTTCTTCCAATTAAGGAAAGTGCCACAAGCACTAACAGGTAAGTTATATAGCCTGCACTTTCACCCTCACATGTCAGCAGTACAATGATCAGATCCTTGTTT... |
Task1_train_29069 | This mutation is located in gene TLR7 (toll like receptor 7) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Systemic lupus erythematosus 17 | TGCAGTGGCTCATGACTGTAATTTCAGCACTTTGGGAGGCTGAGGTGGGACGATCGCTTGAGCCTGGGAAACAATTTCAAGGAGTTCACAGCAAGAAACTGACTGATTAAGGTTTGGGAAGCTTGATAGATAGGGTAGACTGGGAAAGTGAGAGAGGAGGCTTTGGAGTGGACCAAGGATAGAGGGATCTCAGCTGATATTATGTCAGCTAAAACCTCAAAGCAAGGAGGATGTTAAGAACAATGAAGGAGGTCAGCTGGACTCTCAATGTTTTTAACGATAGGGAGGAAAAGATAGGGGGGTGACAAGAAGAAGAGACA... | TGCAGTGGCTCATGACTGTAATTTCAGCACTTTGGGAGGCTGAGGTGGGACGATCGCTTGAGCCTGGGAAACAATTTCAAGGAGTTCACAGCAAGAAACTGACTGATTAAGGTTTGGGAAGCTTGATAGATAGGGTAGACTGGGAAAGTGAGAGAGGAGGCTTTGGAGTGGACCAAGGATAGAGGGATCTCAGCTGATATTATGTCAGCTAAAACCTCAAAGCAAGGAGGATGTTAAGAACAATGAAGGAGGTCAGCTGGACTCTCAATGTTTTTAACGATAGGGAGGAAAAGATAGGGGGGTGACAAGAAGAAGAGACA... |
Task1_train_29070 | This is a variant in TLR7 (toll like receptor 7), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TATTAGAGGCATGAGCCACCACATCTGGTGGAAGTAGGCATTTGGTTTCTTAGATAACAACATGATTGGTTGATTCAGTCACTTGGGAAGATAAAAGCATTAACTGAGCTAGATCCCTATGGTAGAGACACAGGCTGGACCACTCCATGCGTAAGTACTAAACTAAAACCAGTGTTCTGGAGTAGACATTGCTAGAAATCCTGAAACTTGAGAGCCAGTCCACGGTTAAAGCATTCTGTAAGGCAGAGCCAGTGGAAGGTAATAAGGTGATTTTTAAAGCTCTTCTGCACTTCCCATATTCCCTTTTAGGGCCTTTCTCC... | TATTAGAGGCATGAGCCACCACATCTGGTGGAAGTAGGCATTTGGTTTCTTAGATAACAACATGATTGGTTGATTCAGTCACTTGGGAAGATAAAAGCATTAACTGAGCTAGATCCCTATGGTAGAGACACAGGCTGGACCACTCCATGCGTAAGTACTAAACTAAAACCAGTGTTCTGGAGTAGACATTGCTAGAAATCCTGAAACTTGAGAGCCAGTCCACGGTTAAAGCATTCTGTAAGGCAGAGCCAGTGGAAGGTAATAAGGTGATTTTTAAAGCTCTTCTGCACTTCCCATATTCCCTTTTAGGGCCTTTCTCC... |
Task1_train_29071 | Gene TLR7 (toll like receptor 7) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Systemic lupus erythematosus | AACCTTGGGCTAATCAGTTAATATTGCTGAGCGATGTCTTCATTTGTAAAACGGGAATCTTAGAATATTCTGAGACTCAAATACTATGAAAGACTCATGTAATGTGTACCAGGGCAGGTTTAGCAGGCCGACATAAATTGCACTAAAGTCTTCATGTGTTATTTTTCATGGGTGTATCCATATTCTAACATTTCTTCACCCTCCAAATTTCAGACTTTGGCAGTGAATCTATGGCTCTGCAATTTTAGTGTTCCATGTAACAACGAATAGGAAAATGCTGCTTCTACCCTCTCGAAAGCTATTTTGCTAAAGAGCTAAGA... | AACCTTGGGCTAATCAGTTAATATTGCTGAGCGATGTCTTCATTTGTAAAACGGGAATCTTAGAATATTCTGAGACTCAAATACTATGAAAGACTCATGTAATGTGTACCAGGGCAGGTTTAGCAGGCCGACATAAATTGCACTAAAGTCTTCATGTGTTATTTTTCATGGGTGTATCCATATTCTAACATTTCTTCACCCTCCAAATTTCAGACTTTGGCAGTGAATCTATGGCTCTGCAATTTTAGTGTTCCATGTAACAACGAATAGGAAAATGCTGCTTCTACCCTCTCGAAAGCTATTTTGCTAAAGAGCTAAGA... |
Task1_train_29072 | Consider a variant on Chromosome X in gene TLR7 (toll like receptor 7). Determine its clinical classification and disease relevance. | Pathogenic; Systemic lupus erythematosus 17 | AACCTTGGGCTAATCAGTTAATATTGCTGAGCGATGTCTTCATTTGTAAAACGGGAATCTTAGAATATTCTGAGACTCAAATACTATGAAAGACTCATGTAATGTGTACCAGGGCAGGTTTAGCAGGCCGACATAAATTGCACTAAAGTCTTCATGTGTTATTTTTCATGGGTGTATCCATATTCTAACATTTCTTCACCCTCCAAATTTCAGACTTTGGCAGTGAATCTATGGCTCTGCAATTTTAGTGTTCCATGTAACAACGAATAGGAAAATGCTGCTTCTACCCTCTCGAAAGCTATTTTGCTAAAGAGCTAAGA... | AACCTTGGGCTAATCAGTTAATATTGCTGAGCGATGTCTTCATTTGTAAAACGGGAATCTTAGAATATTCTGAGACTCAAATACTATGAAAGACTCATGTAATGTGTACCAGGGCAGGTTTAGCAGGCCGACATAAATTGCACTAAAGTCTTCATGTGTTATTTTTCATGGGTGTATCCATATTCTAACATTTCTTCACCCTCCAAATTTCAGACTTTGGCAGTGAATCTATGGCTCTGCAATTTTAGTGTTCCATGTAACAACGAATAGGAAAATGCTGCTTCTACCCTCTCGAAAGCTATTTTGCTAAAGAGCTAAGA... |
Task1_train_29073 | Consider a variant on Chromosome X in gene TLR7 (toll like receptor 7). Determine its clinical classification and disease relevance. | Pathogenic; Immunodeficiency 74, COVID-19-related, X-linked | GCATCAAGAGGCTGCAGATTAAACCCAGAAGCTTTAGTGGACTCACTTATTTAAAATCCCTTTACCTGGATGGAAACCAGCTACTAGAGATACCGCAGGGCCTCCCGCCTAGCTTACAGCTTCTCAGCCTTGAGGCCAACAACATCTTTTCCATCAGAAAAGAGAATCTAACAGAACTGGCCAACATAGAAATACTCTACCTGGGCCAAAACTGTTATTATCGAAATCCTTGTTATGTTTCATATTCAATAGAGAAAGATGCCTTCCTAAACTTGACAAAGTTAAAAGTGCTCTCCCTGAAAGATAACAATGTCACAGCC... | GCATCAAGAGGCTGCAGATTAAACCCAGAAGCTTTAGTGGACTCACTTATTTAAAATCCCTTTACCTGGATGGAAACCAGCTACTAGAGATACCGCAGGGCCTCCCGCCTAGCTTACAGCTTCTCAGCCTTGAGGCCAACAACATCTTTTCCATCAGAAAAGAGAATCTAACAGAACTGGCCAACATAGAAATACTCTACCTGGGCCAAAACTGTTATTATCGAAATCCTTGTTATGTTTCATATTCAATAGAGAAAGATGCCTTCCTAAACTTGACAAAGTTAAAAGTGCTCTCCCTGAAAGATAACAATGTCACAGCC... |
Task1_train_29074 | A variant affecting Chromosome X, within the gene TLR8-AS1, TLR8 (TLR8 antisense RNA 1| toll like receptor 8), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Immunodeficiency 98 with autoinflammation, X-linked | TGCAGAAGCTTCCCAGGTCTTCTCATCATCATAATCTCAGATAGCTTCATCTTCAACTTCCTTTTTTTTGTTGTTTTTGAGACAGGGTCTCACTCTGTCATCCAGGATGGAGTGCAGTGGCACAATCATGGCTCACTGCAGCCTCGACCTCAGGAGCTCAAGCCATCCTCCCACTTCAGCCTCCCGAGTAGTTGGGACTACAGGCATGCACCACTACGCCCGGCTAATTTTTTCATTTTTTTGTAGAGTCAGGGTCTCCCTATGCTGCCCAGTCTGGTCTCAAACTCCTGGGCTCAAACCATCTTTCCACCTCGGCCTCC... | TGCAGAAGCTTCCCAGGTCTTCTCATCATCATAATCTCAGATAGCTTCATCTTCAACTTCCTTTTTTTTGTTGTTTTTGAGACAGGGTCTCACTCTGTCATCCAGGATGGAGTGCAGTGGCACAATCATGGCTCACTGCAGCCTCGACCTCAGGAGCTCAAGCCATCCTCCCACTTCAGCCTCCCGAGTAGTTGGGACTACAGGCATGCACCACTACGCCCGGCTAATTTTTTCATTTTTTTGTAGAGTCAGGGTCTCCCTATGCTGCCCAGTCTGGTCTCAAACTCCTGGGCTCAAACCATCTTTCCACCTCGGCCTCC... |
Task1_train_29075 | Here is a mutation in TLR8-AS1, TLR8 (TLR8 antisense RNA 1| toll like receptor 8) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; INFLTR8 | TGCAGAAGCTTCCCAGGTCTTCTCATCATCATAATCTCAGATAGCTTCATCTTCAACTTCCTTTTTTTTGTTGTTTTTGAGACAGGGTCTCACTCTGTCATCCAGGATGGAGTGCAGTGGCACAATCATGGCTCACTGCAGCCTCGACCTCAGGAGCTCAAGCCATCCTCCCACTTCAGCCTCCCGAGTAGTTGGGACTACAGGCATGCACCACTACGCCCGGCTAATTTTTTCATTTTTTTGTAGAGTCAGGGTCTCCCTATGCTGCCCAGTCTGGTCTCAAACTCCTGGGCTCAAACCATCTTTCCACCTCGGCCTCC... | TGCAGAAGCTTCCCAGGTCTTCTCATCATCATAATCTCAGATAGCTTCATCTTCAACTTCCTTTTTTTTGTTGTTTTTGAGACAGGGTCTCACTCTGTCATCCAGGATGGAGTGCAGTGGCACAATCATGGCTCACTGCAGCCTCGACCTCAGGAGCTCAAGCCATCCTCCCACTTCAGCCTCCCGAGTAGTTGGGACTACAGGCATGCACCACTACGCCCGGCTAATTTTTTCATTTTTTTGTAGAGTCAGGGTCTCCCTATGCTGCCCAGTCTGGTCTCAAACTCCTGGGCTCAAACCATCTTTCCACCTCGGCCTCC... |
Task1_train_29076 | A genetic alteration is present in TLR8, TLR8-AS1 (toll like receptor 8| TLR8 antisense RNA 1) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Immunodeficiency 98 with autoinflammation, X-linked | CATTTTTTTGTAGAGTCAGGGTCTCCCTATGCTGCCCAGTCTGGTCTCAAACTCCTGGGCTCAAACCATCTTTCCACCTCGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCACCACACACAGCCCATCTTCAACTTCTTTTAGCACCATGAAGCTGAACATAGTAAAAAAGTAAAATCATTCTGGACCTAATCTGATGCAATTTATTTAATTGTTAAGTGAATGCACACATCAAAATTCATACAAGTATGGGGCAGCGCTGCTAATTTATTTACAAAACACCTGGCAAATACTGCTACTCTAATACTGTGCTTCCA... | CATTTTTTTGTAGAGTCAGGGTCTCCCTATGCTGCCCAGTCTGGTCTCAAACTCCTGGGCTCAAACCATCTTTCCACCTCGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCACCACACACAGCCCATCTTCAACTTCTTTTAGCACCATGAAGCTGAACATAGTAAAAAAGTAAAATCATTCTGGACCTAATCTGATGCAATTTATTTAATTGTTAAGTGAATGCACACATCAAAATTCATACAAGTATGGGGCAGCGCTGCTAATTTATTTACAAAACACCTGGCAAATACTGCTACTCTAATACTGTGCTTCCA... |
Task1_train_29077 | A variant was discovered in gene TLR8, TLR8-AS1 (toll like receptor 8| TLR8 antisense RNA 1), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; INFLTR8 | CATTTTTTTGTAGAGTCAGGGTCTCCCTATGCTGCCCAGTCTGGTCTCAAACTCCTGGGCTCAAACCATCTTTCCACCTCGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCACCACACACAGCCCATCTTCAACTTCTTTTAGCACCATGAAGCTGAACATAGTAAAAAAGTAAAATCATTCTGGACCTAATCTGATGCAATTTATTTAATTGTTAAGTGAATGCACACATCAAAATTCATACAAGTATGGGGCAGCGCTGCTAATTTATTTACAAAACACCTGGCAAATACTGCTACTCTAATACTGTGCTTCCA... | CATTTTTTTGTAGAGTCAGGGTCTCCCTATGCTGCCCAGTCTGGTCTCAAACTCCTGGGCTCAAACCATCTTTCCACCTCGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCACCACACACAGCCCATCTTCAACTTCTTTTAGCACCATGAAGCTGAACATAGTAAAAAAGTAAAATCATTCTGGACCTAATCTGATGCAATTTATTTAATTGTTAAGTGAATGCACACATCAAAATTCATACAAGTATGGGGCAGCGCTGCTAATTTATTTACAAAACACCTGGCAAATACTGCTACTCTAATACTGTGCTTCCA... |
Task1_train_29078 | The gene TLR8, TLR8-AS1 (toll like receptor 8| TLR8 antisense RNA 1) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autoimmune hemolytic anemia | CATTTTTTTGTAGAGTCAGGGTCTCCCTATGCTGCCCAGTCTGGTCTCAAACTCCTGGGCTCAAACCATCTTTCCACCTCGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCACCACACACAGCCCATCTTCAACTTCTTTTAGCACCATGAAGCTGAACATAGTAAAAAAGTAAAATCATTCTGGACCTAATCTGATGCAATTTATTTAATTGTTAAGTGAATGCACACATCAAAATTCATACAAGTATGGGGCAGCGCTGCTAATTTATTTACAAAACACCTGGCAAATACTGCTACTCTAATACTGTGCTTCCA... | CATTTTTTTGTAGAGTCAGGGTCTCCCTATGCTGCCCAGTCTGGTCTCAAACTCCTGGGCTCAAACCATCTTTCCACCTCGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCACCACACACAGCCCATCTTCAACTTCTTTTAGCACCATGAAGCTGAACATAGTAAAAAAGTAAAATCATTCTGGACCTAATCTGATGCAATTTATTTAATTGTTAAGTGAATGCACACATCAAAATTCATACAAGTATGGGGCAGCGCTGCTAATTTATTTACAAAACACCTGGCAAATACTGCTACTCTAATACTGTGCTTCCA... |
Task1_train_29079 | Gene TLR8, TLR8-AS1 (toll like receptor 8| TLR8 antisense RNA 1) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Systemic autoinflammation | CATTTTTTTGTAGAGTCAGGGTCTCCCTATGCTGCCCAGTCTGGTCTCAAACTCCTGGGCTCAAACCATCTTTCCACCTCGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCACCACACACAGCCCATCTTCAACTTCTTTTAGCACCATGAAGCTGAACATAGTAAAAAAGTAAAATCATTCTGGACCTAATCTGATGCAATTTATTTAATTGTTAAGTGAATGCACACATCAAAATTCATACAAGTATGGGGCAGCGCTGCTAATTTATTTACAAAACACCTGGCAAATACTGCTACTCTAATACTGTGCTTCCA... | CATTTTTTTGTAGAGTCAGGGTCTCCCTATGCTGCCCAGTCTGGTCTCAAACTCCTGGGCTCAAACCATCTTTCCACCTCGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCACCACACACAGCCCATCTTCAACTTCTTTTAGCACCATGAAGCTGAACATAGTAAAAAAGTAAAATCATTCTGGACCTAATCTGATGCAATTTATTTAATTGTTAAGTGAATGCACACATCAAAATTCATACAAGTATGGGGCAGCGCTGCTAATTTATTTACAAAACACCTGGCAAATACTGCTACTCTAATACTGTGCTTCCA... |
Task1_train_29080 | This gene mutation involves OFD1, TRAPPC2 (OFD1 centriole and centriolar satellite protein| trafficking protein particle complex subunit 2) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Spondyloepiphyseal dysplasia tarda | CCTAATCCAATGGACTGGTGTATTTAGAAAAAGGGAACATTTAGAGATGCACACAGGGAGAAAAATGCCACATGAAGACTGGAGTTATGCTGCCACAAGCCAAGGAACTCCCAGAAGCTGGGAGAGAGGCCTGGACAGACCCTTGTCTTTGTGCCTTCATAGGGAGCATGGCCCCACTGACACCTTGATTTCAGATGGTGGCCCTCAGAACTGAGACAATAAATTTCTGCTGTCCCAAGCCACTCAGTTTTTCGTACTTTGTTACAACAGCCATAGGAAACTGAGACGGCTTCCTTGCCAAGGAGGCTGTTCTCATGCCT... | CCTAATCCAATGGACTGGTGTATTTAGAAAAAGGGAACATTTAGAGATGCACACAGGGAGAAAAATGCCACATGAAGACTGGAGTTATGCTGCCACAAGCCAAGGAACTCCCAGAAGCTGGGAGAGAGGCCTGGACAGACCCTTGTCTTTGTGCCTTCATAGGGAGCATGGCCCCACTGACACCTTGATTTCAGATGGTGGCCCTCAGAACTGAGACAATAAATTTCTGCTGTCCCAAGCCACTCAGTTTTTCGTACTTTGTTACAACAGCCATAGGAAACTGAGACGGCTTCCTTGCCAAGGAGGCTGTTCTCATGCCT... |
Task1_train_29081 | A sequence alteration has been identified in OFD1 (OFD1 centriole and centriolar satellite protein) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Familial aplasia of the vermis | CCGCGCCCCGAACCTGTAGCCAGAACGCCGAAGCAGTTCTCGCGATACCCTGGGATGTGCTCTCGCGATACGTAGGCGGAGCTTCCGGCCGGTGCTGGGCAACCAAGCTCATGCGCCGTAGCTCTTCAGCTCGGGAAGGCTATATTTAGCAGGTTTCCGGAAGTTGCCGGACTGGCTGTGAGGCGGTCCTGCCTCGCTGCCTTCAGTCCCTAGTGTCTGGGTCCCCGCCCTCCAGCCGCCTTTGAGTCGTGCCTGGGTCCTCGCCCTTGCCTCAGAACCGCGAAGAAAGGAAGCTCGCGTGTTTGCTAGAAAACCTAGTT... | CCGCGCCCCGAACCTGTAGCCAGAACGCCGAAGCAGTTCTCGCGATACCCTGGGATGTGCTCTCGCGATACGTAGGCGGAGCTTCCGGCCGGTGCTGGGCAACCAAGCTCATGCGCCGTAGCTCTTCAGCTCGGGAAGGCTATATTTAGCAGGTTTCCGGAAGTTGCCGGACTGGCTGTGAGGCGGTCCTGCCTCGCTGCCTTCAGTCCCTAGTGTCTGGGTCCCCGCCCTCCAGCCGCCTTTGAGTCGTGCCTGGGTCCTCGCCCTTGCCTCAGAACCGCGAAGAAAGGAAGCTCGCGTGTTTGCTAGAAAACCTAGTT... |
Task1_train_29082 | A variant was discovered in gene OFD1 (OFD1 centriole and centriolar satellite protein), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Orofaciodigital syndrome I | CCGCGCCCCGAACCTGTAGCCAGAACGCCGAAGCAGTTCTCGCGATACCCTGGGATGTGCTCTCGCGATACGTAGGCGGAGCTTCCGGCCGGTGCTGGGCAACCAAGCTCATGCGCCGTAGCTCTTCAGCTCGGGAAGGCTATATTTAGCAGGTTTCCGGAAGTTGCCGGACTGGCTGTGAGGCGGTCCTGCCTCGCTGCCTTCAGTCCCTAGTGTCTGGGTCCCCGCCCTCCAGCCGCCTTTGAGTCGTGCCTGGGTCCTCGCCCTTGCCTCAGAACCGCGAAGAAAGGAAGCTCGCGTGTTTGCTAGAAAACCTAGTT... | CCGCGCCCCGAACCTGTAGCCAGAACGCCGAAGCAGTTCTCGCGATACCCTGGGATGTGCTCTCGCGATACGTAGGCGGAGCTTCCGGCCGGTGCTGGGCAACCAAGCTCATGCGCCGTAGCTCTTCAGCTCGGGAAGGCTATATTTAGCAGGTTTCCGGAAGTTGCCGGACTGGCTGTGAGGCGGTCCTGCCTCGCTGCCTTCAGTCCCTAGTGTCTGGGTCCCCGCCCTCCAGCCGCCTTTGAGTCGTGCCTGGGTCCTCGCCCTTGCCTCAGAACCGCGAAGAAAGGAAGCTCGCGTGTTTGCTAGAAAACCTAGTT... |
Task1_train_29083 | This sequence change occurs on Chromosome X, altering OFD1 (OFD1 centriole and centriolar satellite protein). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Joubert syndrome 10 | AGCCAGAACGCCGAAGCAGTTCTCGCGATACCCTGGGATGTGCTCTCGCGATACGTAGGCGGAGCTTCCGGCCGGTGCTGGGCAACCAAGCTCATGCGCCGTAGCTCTTCAGCTCGGGAAGGCTATATTTAGCAGGTTTCCGGAAGTTGCCGGACTGGCTGTGAGGCGGTCCTGCCTCGCTGCCTTCAGTCCCTAGTGTCTGGGTCCCCGCCCTCCAGCCGCCTTTGAGTCGTGCCTGGGTCCTCGCCCTTGCCTCAGAACCGCGAAGAAAGGAAGCTCGCGTGTTTGCTAGAAAACCTAGTTGGGAGTGCGAGGCAGAG... | AGCCAGAACGCCGAAGCAGTTCTCGCGATACCCTGGGATGTGCTCTCGCGATACGTAGGCGGAGCTTCCGGCCGGTGCTGGGCAACCAAGCTCATGCGCCGTAGCTCTTCAGCTCGGGAAGGCTATATTTAGCAGGTTTCCGGAAGTTGCCGGACTGGCTGTGAGGCGGTCCTGCCTCGCTGCCTTCAGTCCCTAGTGTCTGGGTCCCCGCCCTCCAGCCGCCTTTGAGTCGTGCCTGGGTCCTCGCCCTTGCCTCAGAACCGCGAAGAAAGGAAGCTCGCGTGTTTGCTAGAAAACCTAGTTGGGAGTGCGAGGCAGAG... |
Task1_train_29084 | The following genetic variant occurs in OFD1 (OFD1 centriole and centriolar satellite protein) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Orofaciodigital syndrome I | TGTTATATAACAAGTGGGTACTAAATTTGAAATTAATTTCTTGGCGTCTCATTTAGTCTCACATAAAACAGTGATGTATAGAATCTCTAAATGTTTCAGACCTATAATTGATCTATCTATCCTCTATCTTGTCTAATAAGACTCTGCCAATCTGCTGAATGTCTGCTGTAAGCTTGGCACTGTGATAGGCACACTGCAGATGTTTTGTGTGTTACGGATGAGGAACCAGACTCTGGAGAGGTGAATCAATTTGCCCAACATCAAGTAACTTTTAAGTGACAATGCAGGGTGGTAAATCTAGATCTCTAACATGAGCTCTT... | TGTTATATAACAAGTGGGTACTAAATTTGAAATTAATTTCTTGGCGTCTCATTTAGTCTCACATAAAACAGTGATGTATAGAATCTCTAAATGTTTCAGACCTATAATTGATCTATCTATCCTCTATCTTGTCTAATAAGACTCTGCCAATCTGCTGAATGTCTGCTGTAAGCTTGGCACTGTGATAGGCACACTGCAGATGTTTTGTGTGTTACGGATGAGGAACCAGACTCTGGAGAGGTGAATCAATTTGCCCAACATCAAGTAACTTTTAAGTGACAATGCAGGGTGGTAAATCTAGATCTCTAACATGAGCTCTT... |
Task1_train_29085 | Gene OFD1 (OFD1 centriole and centriolar satellite protein), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Joubert syndrome 10 | AAAAACAGTGACTGAGCAGTGGTTGAAAGTTCTGAAACAAAACTGTATGCATATGTTTTTTAGGTTTTCTTATGCATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGGGTAATTATAGCCTTCTTTCTTAATTTCAGTTCTGCTGTTTTCATTTTGAATGAAGGAAATTATCTGATTTACCATATTGTGTGATTGCTCCTTGAACTGGAGGGATGCAGCCGGCAGGCAACAAGGGAATTCATTTCTGGAATCATCTTGGG... | AAAAACAGTGACTGAGCAGTGGTTGAAAGTTCTGAAACAAAACTGTATGCATATGTTTTTTAGGTTTTCTTATGCATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGGGTAATTATAGCCTTCTTTCTTAATTTCAGTTCTGCTGTTTTCATTTTGAATGAAGGAAATTATCTGATTTACCATATTGTGTGATTGCTCCTTGAACTGGAGGGATGCAGCCGGCAGGCAACAAGGGAATTCATTTCTGGAATCATCTTGGG... |
Task1_train_29086 | Assess the clinical impact of this variant on gene OFD1 (OFD1 centriole and centriolar satellite protein), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Orofaciodigital syndrome I | TTGGCCAGGCTGGTCTCGAACTCGTGACCTCAGGTGGTCCGCCTGACTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCCTTTTACTATCTTGTGGAGACTAATACTTCTTTTATGCATTAATACCATTACGTATGTAACAAATTATGGTTTGATGATATATCTACATAGACTTGTGTTAGATGAAGTGAAAACTACAAAATAGTAACTACAATATAGTAACAGACAGATCTTTGTCTTCAAGGAAGTTAAGAGCTGTGGGTATTAGGGCCCTGTGCTTTGAGCACATGGTATAACTCTGG... | TTGGCCAGGCTGGTCTCGAACTCGTGACCTCAGGTGGTCCGCCTGACTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCCTTTTACTATCTTGTGGAGACTAATACTTCTTTTATGCATTAATACCATTACGTATGTAACAAATTATGGTTTGATGATATATCTACATAGACTTGTGTTAGATGAAGTGAAAACTACAAAATAGTAACTACAATATAGTAACAGACAGATCTTTGTCTTCAAGGAAGTTAAGAGCTGTGGGTATTAGGGCCCTGTGCTTTGAGCACATGGTATAACTCTGG... |
Task1_train_29087 | This variant affects gene GLRA2 (glycine receptor alpha 2) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Intellectual developmental disorder, X-linked, syndromic, Pilorge type | CAGGTAGCTACATTTCTTATTTTTGACTTCTTAAGGAAGAATCAAGAATCTATTACAAGCCTGACTTTTTTTTTTTTTTAATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCCACTCACCGCAACCTGCGCCTCCTGGGTTCAAGCAATTCTCCCACTTCAGCCTCCTGAGTAGCTGGGTCTACAGGCATGCACCAGCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGTGTTTCACCATGCTGGCCAGGCTGGTCTCGAACACCTGACCTCAGGTGATGCACCCACTTCAGCCTCCCA... | CAGGTAGCTACATTTCTTATTTTTGACTTCTTAAGGAAGAATCAAGAATCTATTACAAGCCTGACTTTTTTTTTTTTTTAATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCCACTCACCGCAACCTGCGCCTCCTGGGTTCAAGCAATTCTCCCACTTCAGCCTCCTGAGTAGCTGGGTCTACAGGCATGCACCAGCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGTGTTTCACCATGCTGGCCAGGCTGGTCTCGAACACCTGACCTCAGGTGATGCACCCACTTCAGCCTCCCA... |
Task1_train_29088 | A mutation in GLRA2 (glycine receptor alpha 2), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Intellectual developmental disorder, X-linked, syndromic, Pilorge type | ATTACAAGCCTGACTTTTTTTTTTTTTTAATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCCACTCACCGCAACCTGCGCCTCCTGGGTTCAAGCAATTCTCCCACTTCAGCCTCCTGAGTAGCTGGGTCTACAGGCATGCACCAGCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGTGTTTCACCATGCTGGCCAGGCTGGTCTCGAACACCTGACCTCAGGTGATGCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCTGGGCCAAGTCTGACAT... | ATTACAAGCCTGACTTTTTTTTTTTTTTAATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCCACTCACCGCAACCTGCGCCTCCTGGGTTCAAGCAATTCTCCCACTTCAGCCTCCTGAGTAGCTGGGTCTACAGGCATGCACCAGCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGTGTTTCACCATGCTGGCCAGGCTGGTCTCGAACACCTGACCTCAGGTGATGCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCTGGGCCAAGTCTGACAT... |
Task1_train_29089 | This mutation is located in gene FANCB, GLRA2 (FA complementation group B| glycine receptor alpha 2) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Intellectual developmental disorder, X-linked, syndromic, Pilorge type | TCACGCTCGGTGGGCTGCACCCACTGTCCTGCCCCCACTGTCTGATAAGCCCCAGTGAGATGAACGTGGTACCTCAGTTGGAAATGCAGAAATCCCTCGTCTTCTGCGTCGCTCAGGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTGGAACTTCTTTCTGAAACTATTCTAAAATCTTTATGTATATTAAGTGATTTTATCCACTTAACAGCTCTATGAGGTAGGTACTATTATTGCTCCTATTTTAGGGATGAGGAATAGAGGCAGAGAGAGGTTAAATAACATAACTGAATTATACAGATAGTAGC... | TCACGCTCGGTGGGCTGCACCCACTGTCCTGCCCCCACTGTCTGATAAGCCCCAGTGAGATGAACGTGGTACCTCAGTTGGAAATGCAGAAATCCCTCGTCTTCTGCGTCGCTCAGGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTGGAACTTCTTTCTGAAACTATTCTAAAATCTTTATGTATATTAAGTGATTTTATCCACTTAACAGCTCTATGAGGTAGGTACTATTATTGCTCCTATTTTAGGGATGAGGAATAGAGGCAGAGAGAGGTTAAATAACATAACTGAATTATACAGATAGTAGC... |
Task1_train_29090 | Here is a mutation in FANCB (FA complementation group B) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Fanconi anemia complementation group B | ATCTTATAATCACATTTCTATGTAATGCGTATATTCATTTAAAAATCTGCAAGAATATACAGGGCAAAGTGTTAAAATTGGTTATTGCAAAATAGTGGAATCACAGACAATCATTAGGTTTTTTTTATTTTGTTTTGTTTTGACATTTCTTTGCAAAGCCTCAGTATTTTACAGGGAATGTTCATTACCTTGGTACATTTGGGAAAAAAAATAAAAACTCTTTTGTGGAGCTTTTTATGGAAAATATGAGAGTAAACTGTTCATGTCTGGAATGCATTATGATTTATCATATTCGCTGCTACTCTAAAAAGATACTGTGG... | ATCTTATAATCACATTTCTATGTAATGCGTATATTCATTTAAAAATCTGCAAGAATATACAGGGCAAAGTGTTAAAATTGGTTATTGCAAAATAGTGGAATCACAGACAATCATTAGGTTTTTTTTATTTTGTTTTGTTTTGACATTTCTTTGCAAAGCCTCAGTATTTTACAGGGAATGTTCATTACCTTGGTACATTTGGGAAAAAAAATAAAAACTCTTTTGTGGAGCTTTTTATGGAAAATATGAGAGTAAACTGTTCATGTCTGGAATGCATTATGATTTATCATATTCGCTGCTACTCTAAAAAGATACTGTGG... |
Task1_train_29091 | Given this context: Chromosome X, gene FANCB (FA complementation group B) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Fanconi anemia complementation group B | CTGCTTTTCTCTCCTAAGTAGCACAAAAACTAAAGTTGTATAGTGTACTACTTTTGGAAGAGACATTTCTAACTAGTAATGATAATTTGTCTTAATTCATAAACACTTCAAATCACATAACTGAATACATTTTCAACCAGGAGGATGCAACATTACCCAAAAATACAGAGTCAGAGAAATATTATTGGTGGAGACACCCAGTTACAAAACTCTAATTTCCTATTGGTTTTCTGTGCCTTTTTACCTGTTACTTAACACTCAATACCAGTGAATATTTTAGAACAATTTCCAAACTTAAAAAAGTGAATACTTGCTCAAAG... | CTGCTTTTCTCTCCTAAGTAGCACAAAAACTAAAGTTGTATAGTGTACTACTTTTGGAAGAGACATTTCTAACTAGTAATGATAATTTGTCTTAATTCATAAACACTTCAAATCACATAACTGAATACATTTTCAACCAGGAGGATGCAACATTACCCAAAAATACAGAGTCAGAGAAATATTATTGGTGGAGACACCCAGTTACAAAACTCTAATTTCCTATTGGTTTTCTGTGCCTTTTTACCTGTTACTTAACACTCAATACCAGTGAATATTTTAGAACAATTTCCAAACTTAAAAAAGTGAATACTTGCTCAAAG... |
Task1_train_29092 | This mutation occurs in PIGA (phosphatidylinositol glycan anchor biosynthesis class A) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Multiple congenital anomalies-hypotonia-seizures syndrome 2 | ATTTTTCACAAATTTCTCATCACTGTAAATTCACTTTAAAATCAACTAAGTAGCAGGGTAGAGCAATGTGTTTCCATATACCGACCAGTGCAAACTGACAGTTACAATTAAGGTATCCAGAAAGGTTGAAAATTAAGATTTACGTGAAACAAATTTACTTCCATTTGTTAAAAAAAAGAAAAATAATAATTTGCAAATCACATGTTTTACAGGCAAAGGCAACTAACTTTAGATCTTATTTCCATCTCAAATAAATGACAGTTTAAGAATTAAATGACAATTTAAAAAAATTAAGCAAAAATATAAGGAAAAAATGGTGG... | ATTTTTCACAAATTTCTCATCACTGTAAATTCACTTTAAAATCAACTAAGTAGCAGGGTAGAGCAATGTGTTTCCATATACCGACCAGTGCAAACTGACAGTTACAATTAAGGTATCCAGAAAGGTTGAAAATTAAGATTTACGTGAAACAAATTTACTTCCATTTGTTAAAAAAAAGAAAAATAATAATTTGCAAATCACATGTTTTACAGGCAAAGGCAACTAACTTTAGATCTTATTTCCATCTCAAATAAATGACAGTTTAAGAATTAAATGACAATTTAAAAAAATTAAGCAAAAATATAAGGAAAAAATGGTGG... |
Task1_train_29093 | This genomic variant is located on Chromosome X, within the PIGA (phosphatidylinositol glycan anchor biosynthesis class A) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Multiple congenital anomalies-hypotonia-seizures syndrome 2 | AGAGTATCCACAAAAACTAAGCTGAACAGTTTGAAAAATCCAATAAAGGAATGTCACAGAAAAAAGTTCTTGGCAGATGAGGGGTGTCCTAAACTACTGTATAAAATTGAAAACAAATTAAAACTCCTGAAGCATATCAGTTCATACGCCTTTAAGTTCTGACCCCACCCAAAAGAAACTCAAAGTAGCAATGGTAGATTATGTTTTATGAAGGAGGGTGTGCAAGATGCAGCTGAAACCAGTGGCCCAGCACTCAAAGCCTGCAATCCTACATCAAACTACGGGCAACTCAGTGTGTATTAATATTTTGAGTTTAATTC... | AGAGTATCCACAAAAACTAAGCTGAACAGTTTGAAAAATCCAATAAAGGAATGTCACAGAAAAAAGTTCTTGGCAGATGAGGGGTGTCCTAAACTACTGTATAAAATTGAAAACAAATTAAAACTCCTGAAGCATATCAGTTCATACGCCTTTAAGTTCTGACCCCACCCAAAAGAAACTCAAAGTAGCAATGGTAGATTATGTTTTATGAAGGAGGGTGTGCAAGATGCAGCTGAAACCAGTGGCCCAGCACTCAAAGCCTGCAATCCTACATCAAACTACGGGCAACTCAGTGTGTATTAATATTTTGAGTTTAATTC... |
Task1_train_29094 | Assess the clinical impact of this variant on gene PIGA (phosphatidylinositol glycan anchor biosynthesis class A), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Neurodevelopmental disorder with epilepsy and hemochromatosis | AACCAGTGGCCCAGCACTCAAAGCCTGCAATCCTACATCAAACTACGGGCAACTCAGTGTGTATTAATATTTTGAGTTTAATTCAAATATTAACTATTTAAGGGGGTATGTATTTATGTATTTTTTTTAATGATTCCCTACTATAAATGACACTTTTGATTAGTGGACAGGTTTTCAAATAGCACTCAGAAGACACTGTTTTTTATAACCAGACTGTGTCAGACTTTTAGTAAACAAGCCTCCACACATTCAACTGCAGTGTCCATTAAGTGCTGTAGAGGTACAAAAAACAGCCTCCTTGGCCAGGTGCAGTGGCTCAC... | AACCAGTGGCCCAGCACTCAAAGCCTGCAATCCTACATCAAACTACGGGCAACTCAGTGTGTATTAATATTTTGAGTTTAATTCAAATATTAACTATTTAAGGGGGTATGTATTTATGTATTTTTTTTAATGATTCCCTACTATAAATGACACTTTTGATTAGTGGACAGGTTTTCAAATAGCACTCAGAAGACACTGTTTTTTATAACCAGACTGTGTCAGACTTTTAGTAAACAAGCCTCCACACATTCAACTGCAGTGTCCATTAAGTGCTGTAGAGGTACAAAAAACAGCCTCCTTGGCCAGGTGCAGTGGCTCAC... |
Task1_train_29095 | A variant was discovered in gene PIGA (phosphatidylinositol glycan anchor biosynthesis class A), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Multiple congenital anomalies-hypotonia-seizures syndrome 2 | TCCTACATCAAACTACGGGCAACTCAGTGTGTATTAATATTTTGAGTTTAATTCAAATATTAACTATTTAAGGGGGTATGTATTTATGTATTTTTTTTAATGATTCCCTACTATAAATGACACTTTTGATTAGTGGACAGGTTTTCAAATAGCACTCAGAAGACACTGTTTTTTATAACCAGACTGTGTCAGACTTTTAGTAAACAAGCCTCCACACATTCAACTGCAGTGTCCATTAAGTGCTGTAGAGGTACAAAAAACAGCCTCCTTGGCCAGGTGCAGTGGCTCACGCCTGTTAATCCCAGCATTTTGGGAGGCCG... | TCCTACATCAAACTACGGGCAACTCAGTGTGTATTAATATTTTGAGTTTAATTCAAATATTAACTATTTAAGGGGGTATGTATTTATGTATTTTTTTTAATGATTCCCTACTATAAATGACACTTTTGATTAGTGGACAGGTTTTCAAATAGCACTCAGAAGACACTGTTTTTTATAACCAGACTGTGTCAGACTTTTAGTAAACAAGCCTCCACACATTCAACTGCAGTGTCCATTAAGTGCTGTAGAGGTACAAAAAACAGCCTCCTTGGCCAGGTGCAGTGGCTCACGCCTGTTAATCCCAGCATTTTGGGAGGCCG... |
Task1_train_29096 | Gene PIGA (phosphatidylinositol glycan anchor biosynthesis class A), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Multiple congenital anomalies-hypotonia-seizures syndrome 2 | GGGGTATGTATTTATGTATTTTTTTTAATGATTCCCTACTATAAATGACACTTTTGATTAGTGGACAGGTTTTCAAATAGCACTCAGAAGACACTGTTTTTTATAACCAGACTGTGTCAGACTTTTAGTAAACAAGCCTCCACACATTCAACTGCAGTGTCCATTAAGTGCTGTAGAGGTACAAAAAACAGCCTCCTTGGCCAGGTGCAGTGGCTCACGCCTGTTAATCCCAGCATTTTGGGAGGCCGGGGCAGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCTTGTCTCTACTAAA... | GGGGTATGTATTTATGTATTTTTTTTAATGATTCCCTACTATAAATGACACTTTTGATTAGTGGACAGGTTTTCAAATAGCACTCAGAAGACACTGTTTTTTATAACCAGACTGTGTCAGACTTTTAGTAAACAAGCCTCCACACATTCAACTGCAGTGTCCATTAAGTGCTGTAGAGGTACAAAAAACAGCCTCCTTGGCCAGGTGCAGTGGCTCACGCCTGTTAATCCCAGCATTTTGGGAGGCCGGGGCAGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCTTGTCTCTACTAAA... |
Task1_train_29097 | This variant lies on Chromosome X and affects the gene PIGA (phosphatidylinositol glycan anchor biosynthesis class A). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Multiple congenital anomalies-hypotonia-seizures syndrome 2 | CACTTTTGATTAGTGGACAGGTTTTCAAATAGCACTCAGAAGACACTGTTTTTTATAACCAGACTGTGTCAGACTTTTAGTAAACAAGCCTCCACACATTCAACTGCAGTGTCCATTAAGTGCTGTAGAGGTACAAAAAACAGCCTCCTTGGCCAGGTGCAGTGGCTCACGCCTGTTAATCCCAGCATTTTGGGAGGCCGGGGCAGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCTTGGTGGTGGGCGCCTGTAATCCCAGC... | CACTTTTGATTAGTGGACAGGTTTTCAAATAGCACTCAGAAGACACTGTTTTTTATAACCAGACTGTGTCAGACTTTTAGTAAACAAGCCTCCACACATTCAACTGCAGTGTCCATTAAGTGCTGTAGAGGTACAAAAAACAGCCTCCTTGGCCAGGTGCAGTGGCTCACGCCTGTTAATCCCAGCATTTTGGGAGGCCGGGGCAGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCTTGGTGGTGGGCGCCTGTAATCCCAGC... |
Task1_train_29098 | A mutation on Chromosome X affecting NHS (NHS actin remodeling regulator) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Nance-Horan syndrome | TTTCTCCTGGAATTCTACTTTTTATAGGAATTTCTGTTTTCTGTTGATGTGGTTCTCTCATAAAGAAGGAGTACTGCTGTTCAACAATTGTTTTAAAAGGAGCCAATCAGAAACACCTTCTATGTATACCTTAGCAGGCATACTTCTCTACTCAGAGGGTGAAGAACCATTAGTTTCTTTTCCTTCACCCCTGTGCCTAGTCTAAGCTCTGATTATATTTCCCTCACCCCCACAGTTTATCTTCAATCCCAGGAAAAATTACTAAACTGCTATGTAAGTTAAAAAGTTACTCCCAAAGGACCAAATGCTAGTGTATGGAA... | TTTCTCCTGGAATTCTACTTTTTATAGGAATTTCTGTTTTCTGTTGATGTGGTTCTCTCATAAAGAAGGAGTACTGCTGTTCAACAATTGTTTTAAAAGGAGCCAATCAGAAACACCTTCTATGTATACCTTAGCAGGCATACTTCTCTACTCAGAGGGTGAAGAACCATTAGTTTCTTTTCCTTCACCCCTGTGCCTAGTCTAAGCTCTGATTATATTTCCCTCACCCCCACAGTTTATCTTCAATCCCAGGAAAAATTACTAAACTGCTATGTAAGTTAAAAAGTTACTCCCAAAGGACCAAATGCTAGTGTATGGAA... |
Task1_train_29099 | This alteration in NHS (NHS actin remodeling regulator) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; X-linked syndromic intellectual disability | TTTCTCCTGGAATTCTACTTTTTATAGGAATTTCTGTTTTCTGTTGATGTGGTTCTCTCATAAAGAAGGAGTACTGCTGTTCAACAATTGTTTTAAAAGGAGCCAATCAGAAACACCTTCTATGTATACCTTAGCAGGCATACTTCTCTACTCAGAGGGTGAAGAACCATTAGTTTCTTTTCCTTCACCCCTGTGCCTAGTCTAAGCTCTGATTATATTTCCCTCACCCCCACAGTTTATCTTCAATCCCAGGAAAAATTACTAAACTGCTATGTAAGTTAAAAAGTTACTCCCAAAGGACCAAATGCTAGTGTATGGAA... | TTTCTCCTGGAATTCTACTTTTTATAGGAATTTCTGTTTTCTGTTGATGTGGTTCTCTCATAAAGAAGGAGTACTGCTGTTCAACAATTGTTTTAAAAGGAGCCAATCAGAAACACCTTCTATGTATACCTTAGCAGGCATACTTCTCTACTCAGAGGGTGAAGAACCATTAGTTTCTTTTCCTTCACCCCTGTGCCTAGTCTAAGCTCTGATTATATTTCCCTCACCCCCACAGTTTATCTTCAATCCCAGGAAAAATTACTAAACTGCTATGTAAGTTAAAAAGTTACTCCCAAAGGACCAAATGCTAGTGTATGGAA... |
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