ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_19700 | Here is a genetic alteration in LOC101927178, PPP2R3C (uncharacterized LOC101927178| protein phosphatase 2 regulatory subunit B''gamma) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | CCATATAGCATTCAGTTTTTTTAATTTTTATTTTTAGAGATAGGGTCTTACTCTGTCATTCAGGCCGTAGTGCAGTGGCAAATCATGGATCACTGCAGCCTTGACCTCCCGGACTCTAGTGATCTTCCCACCTTAGCCTCTCAAGTAGCTGGGACTGCAGGCATGTGCCACCACACCCAGCTAATTTTTAATTTTTTTGTAGAGATGGAGTCTCCCTATGTTGCCCAGGCTGGTTTCCCAACTCCTGGGCTCAAGCAACCCTCCTTCCCTGGCCTCCCAACGTGCTGGGATTAGAAGCATGAGCGACCACGCCTGGCCTA... | CCATATAGCATTCAGTTTTTTTAATTTTTATTTTTAGAGATAGGGTCTTACTCTGTCATTCAGGCCGTAGTGCAGTGGCAAATCATGGATCACTGCAGCCTTGACCTCCCGGACTCTAGTGATCTTCCCACCTTAGCCTCTCAAGTAGCTGGGACTGCAGGCATGTGCCACCACACCCAGCTAATTTTTAATTTTTTTGTAGAGATGGAGTCTCCCTATGTTGCCCAGGCTGGTTTCCCAACTCCTGGGCTCAAGCAACCCTCCTTCCCTGGCCTCCCAACGTGCTGGGATTAGAAGCATGAGCGACCACGCCTGGCCTA... |
Task1_train_19701 | A mutation found in LOC101927178, PPP2R3C (uncharacterized LOC101927178| protein phosphatase 2 regulatory subunit B''gamma) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | TCAAAAAAGTTGTGATTATAGATATAGTACTGCTGGTACACGAACAGGGACACTGTCTCCATTTATTTTTGGCAGGTTCTGGACTAGAAAGCAATACGCAGGTAAACAGGTGTGGTTTAAGAGCAGAGTTTGTTTTGTCTTGTTCTTGTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATTTCAGCTCACTGCAATCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGAATACAGGCACCCACCACCACATCCAGCTAATT... | TCAAAAAAGTTGTGATTATAGATATAGTACTGCTGGTACACGAACAGGGACACTGTCTCCATTTATTTTTGGCAGGTTCTGGACTAGAAAGCAATACGCAGGTAAACAGGTGTGGTTTAAGAGCAGAGTTTGTTTTGTCTTGTTCTTGTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATTTCAGCTCACTGCAATCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGAATACAGGCACCCACCACCACATCCAGCTAATT... |
Task1_train_19702 | Here is a genetic alteration in LOC101927178, PPP2R3C (uncharacterized LOC101927178| protein phosphatase 2 regulatory subunit B''gamma) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | TTAAAATTATTTCAAATTACCATACATTAAAACTCTTGGTTCAGCTCTTAATATTTCTAGTCTACTATTATCTTTAAGACACATGAGGGTTTAAAAAATTTTTGTTTTTTTATGCTAACCCAAGTTTATGTAACACATCTTGGTCAAAAGATAAGAAATTCTACTATTCAAACTTAGAGTGATTTCACATAGAAGAAATACTTATAAAAGCACAGACCAAAAACCTACTTGATTCCCAGATAAGGAGTTCAAGCACAGTAAAAATGAATCACCTTTTCTCATGACATAATTAAAGAACTGCATGATGGAAATTCTTCCAT... | TTAAAATTATTTCAAATTACCATACATTAAAACTCTTGGTTCAGCTCTTAATATTTCTAGTCTACTATTATCTTTAAGACACATGAGGGTTTAAAAAATTTTTGTTTTTTTATGCTAACCCAAGTTTATGTAACACATCTTGGTCAAAAGATAAGAAATTCTACTATTCAAACTTAGAGTGATTTCACATAGAAGAAATACTTATAAAAGCACAGACCAAAAACCTACTTGATTCCCAGATAAGGAGTTCAAGCACAGTAAAAATGAATCACCTTTTCTCATGACATAATTAAAGAACTGCATGATGGAAATTCTTCCAT... |
Task1_train_19703 | Gene NFKBIA (NFKB inhibitor alpha), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Ectodermal dysplasia and immunodeficiency 2 | GCCCAGCTGCTGCTGTATCCGGGTGCTTGGGCGGCCCCAGGTGAGCTGGTAGGGAGAATAGCCCTGGTAGGTAACTCTGTTGACATCAGCCCCACACTTCAACAGGAGTGACACCAGGTCAGGATTTTGCAGGTCCACTGCGAGGTGAAGGGCAGTCCGGCCATTACAGGGCTCCTGAAACCAAAAGGAATTTGAGATGCTTATGGCTGCATTTGGAATTTCTGCTCACAACATAAGCACGAGGAGCCTGACTCAGTGCGTCGGGGGCAGGAAGCACCAACCTGAGCATTGACATCAGCACCCAAGGACACCAAAAGCTC... | GCCCAGCTGCTGCTGTATCCGGGTGCTTGGGCGGCCCCAGGTGAGCTGGTAGGGAGAATAGCCCTGGTAGGTAACTCTGTTGACATCAGCCCCACACTTCAACAGGAGTGACACCAGGTCAGGATTTTGCAGGTCCACTGCGAGGTGAAGGGCAGTCCGGCCATTACAGGGCTCCTGAAACCAAAAGGAATTTGAGATGCTTATGGCTGCATTTGGAATTTCTGCTCACAACATAAGCACGAGGAGCCTGACTCAGTGCGTCGGGGGCAGGAAGCACCAACCTGAGCATTGACATCAGCACCCAAGGACACCAAAAGCTC... |
Task1_train_19704 | This alteration occurs within gene NFKBIA (NFKB inhibitor alpha) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; Ectodermal dysplasia and immunodeficiency 2 | GCTGTATCCGGGTGCTTGGGCGGCCCCAGGTGAGCTGGTAGGGAGAATAGCCCTGGTAGGTAACTCTGTTGACATCAGCCCCACACTTCAACAGGAGTGACACCAGGTCAGGATTTTGCAGGTCCACTGCGAGGTGAAGGGCAGTCCGGCCATTACAGGGCTCCTGAAACCAAAAGGAATTTGAGATGCTTATGGCTGCATTTGGAATTTCTGCTCACAACATAAGCACGAGGAGCCTGACTCAGTGCGTCGGGGGCAGGAAGCACCAACCTGAGCATTGACATCAGCACCCAAGGACACCAAAAGCTCCACGATGCCCA... | GCTGTATCCGGGTGCTTGGGCGGCCCCAGGTGAGCTGGTAGGGAGAATAGCCCTGGTAGGTAACTCTGTTGACATCAGCCCCACACTTCAACAGGAGTGACACCAGGTCAGGATTTTGCAGGTCCACTGCGAGGTGAAGGGCAGTCCGGCCATTACAGGGCTCCTGAAACCAAAAGGAATTTGAGATGCTTATGGCTGCATTTGGAATTTCTGCTCACAACATAAGCACGAGGAGCCTGACTCAGTGCGTCGGGGGCAGGAAGCACCAACCTGAGCATTGACATCAGCACCCAAGGACACCAAAAGCTCCACGATGCCCA... |
Task1_train_19705 | Here is a mutation in NFKBIA (NFKB inhibitor alpha) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Ectodermal dysplasia and immunodeficiency 2 | CTGTATCCGGGTGCTTGGGCGGCCCCAGGTGAGCTGGTAGGGAGAATAGCCCTGGTAGGTAACTCTGTTGACATCAGCCCCACACTTCAACAGGAGTGACACCAGGTCAGGATTTTGCAGGTCCACTGCGAGGTGAAGGGCAGTCCGGCCATTACAGGGCTCCTGAAACCAAAAGGAATTTGAGATGCTTATGGCTGCATTTGGAATTTCTGCTCACAACATAAGCACGAGGAGCCTGACTCAGTGCGTCGGGGGCAGGAAGCACCAACCTGAGCATTGACATCAGCACCCAAGGACACCAAAAGCTCCACGATGCCCAG... | CTGTATCCGGGTGCTTGGGCGGCCCCAGGTGAGCTGGTAGGGAGAATAGCCCTGGTAGGTAACTCTGTTGACATCAGCCCCACACTTCAACAGGAGTGACACCAGGTCAGGATTTTGCAGGTCCACTGCGAGGTGAAGGGCAGTCCGGCCATTACAGGGCTCCTGAAACCAAAAGGAATTTGAGATGCTTATGGCTGCATTTGGAATTTCTGCTCACAACATAAGCACGAGGAGCCTGACTCAGTGCGTCGGGGGCAGGAAGCACCAACCTGAGCATTGACATCAGCACCCAAGGACACCAAAAGCTCCACGATGCCCAG... |
Task1_train_19706 | A mutation found in NFKBIA (NFKB inhibitor alpha) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Ectodermal dysplasia and immunodeficiency 2 | CTGTATCCGGGTGCTTGGGCGGCCCCAGGTGAGCTGGTAGGGAGAATAGCCCTGGTAGGTAACTCTGTTGACATCAGCCCCACACTTCAACAGGAGTGACACCAGGTCAGGATTTTGCAGGTCCACTGCGAGGTGAAGGGCAGTCCGGCCATTACAGGGCTCCTGAAACCAAAAGGAATTTGAGATGCTTATGGCTGCATTTGGAATTTCTGCTCACAACATAAGCACGAGGAGCCTGACTCAGTGCGTCGGGGGCAGGAAGCACCAACCTGAGCATTGACATCAGCACCCAAGGACACCAAAAGCTCCACGATGCCCAG... | CTGTATCCGGGTGCTTGGGCGGCCCCAGGTGAGCTGGTAGGGAGAATAGCCCTGGTAGGTAACTCTGTTGACATCAGCCCCACACTTCAACAGGAGTGACACCAGGTCAGGATTTTGCAGGTCCACTGCGAGGTGAAGGGCAGTCCGGCCATTACAGGGCTCCTGAAACCAAAAGGAATTTGAGATGCTTATGGCTGCATTTGGAATTTCTGCTCACAACATAAGCACGAGGAGCCTGACTCAGTGCGTCGGGGGCAGGAAGCACCAACCTGAGCATTGACATCAGCACCCAAGGACACCAAAAGCTCCACGATGCCCAG... |
Task1_train_19707 | Chromosome 14 houses a mutation in gene NFKBIA (NFKB inhibitor alpha). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Ectodermal dysplasia and immunodeficiency 2 | TGTATCCGGGTGCTTGGGCGGCCCCAGGTGAGCTGGTAGGGAGAATAGCCCTGGTAGGTAACTCTGTTGACATCAGCCCCACACTTCAACAGGAGTGACACCAGGTCAGGATTTTGCAGGTCCACTGCGAGGTGAAGGGCAGTCCGGCCATTACAGGGCTCCTGAAACCAAAAGGAATTTGAGATGCTTATGGCTGCATTTGGAATTTCTGCTCACAACATAAGCACGAGGAGCCTGACTCAGTGCGTCGGGGGCAGGAAGCACCAACCTGAGCATTGACATCAGCACCCAAGGACACCAAAAGCTCCACGATGCCCAGG... | TGTATCCGGGTGCTTGGGCGGCCCCAGGTGAGCTGGTAGGGAGAATAGCCCTGGTAGGTAACTCTGTTGACATCAGCCCCACACTTCAACAGGAGTGACACCAGGTCAGGATTTTGCAGGTCCACTGCGAGGTGAAGGGCAGTCCGGCCATTACAGGGCTCCTGAAACCAAAAGGAATTTGAGATGCTTATGGCTGCATTTGGAATTTCTGCTCACAACATAAGCACGAGGAGCCTGACTCAGTGCGTCGGGGGCAGGAAGCACCAACCTGAGCATTGACATCAGCACCCAAGGACACCAAAAGCTCCACGATGCCCAGG... |
Task1_train_19708 | A variant affecting Chromosome 14, within the gene RALGAPA1 (Ral GTPase activating protein catalytic subunit alpha 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Infantile spasms | AAGAGTAGGTACATTAGAATATTATTAAAGAAAGGTATCAGCCTAAGCAAAGGATGGTTTAATTGCTTCAAAAAGTGAACTGGTTGGTACAACATTAAAGATGGAGAACTACTCAAGTCAATCCTCTACCTACAATAATAGCTTGATTTTCAACCATGTTTCAAGAACAAATAAGGTCATAAAATTGAAGTAAATTGTATATAAATCACTAAATAAGGGGGAGAGTTTAACTTCTAGACCTTAAAAAGCAAGAGTTAAACAGAATCAAGAATCAAAGATAATATGATATAAACTACTTCTTAGATGATACATATATATAT... | AAGAGTAGGTACATTAGAATATTATTAAAGAAAGGTATCAGCCTAAGCAAAGGATGGTTTAATTGCTTCAAAAAGTGAACTGGTTGGTACAACATTAAAGATGGAGAACTACTCAAGTCAATCCTCTACCTACAATAATAGCTTGATTTTCAACCATGTTTCAAGAACAAATAAGGTCATAAAATTGAAGTAAATTGTATATAAATCACTAAATAAGGGGGAGAGTTTAACTTCTAGACCTTAAAAAGCAAGAGTTAAACAGAATCAAGAATCAAAGATAATATGATATAAACTACTTCTTAGATGATACATATATATAT... |
Task1_train_19709 | A variant was discovered on Chromosome 14, affecting RALGAPA1 (Ral GTPase activating protein catalytic subunit alpha 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Generalized hypotonia | AAGAGTAGGTACATTAGAATATTATTAAAGAAAGGTATCAGCCTAAGCAAAGGATGGTTTAATTGCTTCAAAAAGTGAACTGGTTGGTACAACATTAAAGATGGAGAACTACTCAAGTCAATCCTCTACCTACAATAATAGCTTGATTTTCAACCATGTTTCAAGAACAAATAAGGTCATAAAATTGAAGTAAATTGTATATAAATCACTAAATAAGGGGGAGAGTTTAACTTCTAGACCTTAAAAAGCAAGAGTTAAACAGAATCAAGAATCAAAGATAATATGATATAAACTACTTCTTAGATGATACATATATATAT... | AAGAGTAGGTACATTAGAATATTATTAAAGAAAGGTATCAGCCTAAGCAAAGGATGGTTTAATTGCTTCAAAAAGTGAACTGGTTGGTACAACATTAAAGATGGAGAACTACTCAAGTCAATCCTCTACCTACAATAATAGCTTGATTTTCAACCATGTTTCAAGAACAAATAAGGTCATAAAATTGAAGTAAATTGTATATAAATCACTAAATAAGGGGGAGAGTTTAACTTCTAGACCTTAAAAAGCAAGAGTTAAACAGAATCAAGAATCAAAGATAATATGATATAAACTACTTCTTAGATGATACATATATATAT... |
Task1_train_19710 | This alteration in RALGAPA1 (Ral GTPase activating protein catalytic subunit alpha 1) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Respiratory distress | AAGAGTAGGTACATTAGAATATTATTAAAGAAAGGTATCAGCCTAAGCAAAGGATGGTTTAATTGCTTCAAAAAGTGAACTGGTTGGTACAACATTAAAGATGGAGAACTACTCAAGTCAATCCTCTACCTACAATAATAGCTTGATTTTCAACCATGTTTCAAGAACAAATAAGGTCATAAAATTGAAGTAAATTGTATATAAATCACTAAATAAGGGGGAGAGTTTAACTTCTAGACCTTAAAAAGCAAGAGTTAAACAGAATCAAGAATCAAAGATAATATGATATAAACTACTTCTTAGATGATACATATATATAT... | AAGAGTAGGTACATTAGAATATTATTAAAGAAAGGTATCAGCCTAAGCAAAGGATGGTTTAATTGCTTCAAAAAGTGAACTGGTTGGTACAACATTAAAGATGGAGAACTACTCAAGTCAATCCTCTACCTACAATAATAGCTTGATTTTCAACCATGTTTCAAGAACAAATAAGGTCATAAAATTGAAGTAAATTGTATATAAATCACTAAATAAGGGGGAGAGTTTAACTTCTAGACCTTAAAAAGCAAGAGTTAAACAGAATCAAGAATCAAAGATAATATGATATAAACTACTTCTTAGATGATACATATATATAT... |
Task1_train_19711 | The variant affects gene RALGAPA1 (Ral GTPase activating protein catalytic subunit alpha 1), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Feeding difficulties | AAGAGTAGGTACATTAGAATATTATTAAAGAAAGGTATCAGCCTAAGCAAAGGATGGTTTAATTGCTTCAAAAAGTGAACTGGTTGGTACAACATTAAAGATGGAGAACTACTCAAGTCAATCCTCTACCTACAATAATAGCTTGATTTTCAACCATGTTTCAAGAACAAATAAGGTCATAAAATTGAAGTAAATTGTATATAAATCACTAAATAAGGGGGAGAGTTTAACTTCTAGACCTTAAAAAGCAAGAGTTAAACAGAATCAAGAATCAAAGATAATATGATATAAACTACTTCTTAGATGATACATATATATAT... | AAGAGTAGGTACATTAGAATATTATTAAAGAAAGGTATCAGCCTAAGCAAAGGATGGTTTAATTGCTTCAAAAAGTGAACTGGTTGGTACAACATTAAAGATGGAGAACTACTCAAGTCAATCCTCTACCTACAATAATAGCTTGATTTTCAACCATGTTTCAAGAACAAATAAGGTCATAAAATTGAAGTAAATTGTATATAAATCACTAAATAAGGGGGAGAGTTTAACTTCTAGACCTTAAAAAGCAAGAGTTAAACAGAATCAAGAATCAAAGATAATATGATATAAACTACTTCTTAGATGATACATATATATAT... |
Task1_train_19712 | A variant was discovered on Chromosome 14, affecting NKX2-1, SFTA3 (NK2 homeobox 1| surfactant associated 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | TGGGATGTCCTCAGGCCTGTCACCCAGTGTTACCCCGTTGGAGGCCAAAGGAGCCAAAAGCAGCAGGGGCTGAAGGCGTCTGCTGCTGGTCCCCTAGAGGGGTCCCTGTTTTAGGACAGAAACAAAACCCCTGAATGACTTCCTTACTTTCGAAAACAGCCTCCCATCGAATTCTGTGAAGGAGCTCAGCCACTGATTAGAAATAAAGGTTTGATGTTCAAATCTACAGAGGTGATCCATTCACTGAAAACCATAACTCACTCAGACTGATTTAAAATGGGTGTCCTCTCTCACTGTTTTAAAACTTTGGCTCAGCTTTG... | TGGGATGTCCTCAGGCCTGTCACCCAGTGTTACCCCGTTGGAGGCCAAAGGAGCCAAAAGCAGCAGGGGCTGAAGGCGTCTGCTGCTGGTCCCCTAGAGGGGTCCCTGTTTTAGGACAGAAACAAAACCCCTGAATGACTTCCTTACTTTCGAAAACAGCCTCCCATCGAATTCTGTGAAGGAGCTCAGCCACTGATTAGAAATAAAGGTTTGATGTTCAAATCTACAGAGGTGATCCATTCACTGAAAACCATAACTCACTCAGACTGATTTAAAATGGGTGTCCTCTCTCACTGTTTTAAAACTTTGGCTCAGCTTTG... |
Task1_train_19713 | This variant affects gene NKX2-1, SFTA3 (NK2 homeobox 1| surfactant associated 3) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; Benign hereditary chorea | GGGATGTCCTCAGGCCTGTCACCCAGTGTTACCCCGTTGGAGGCCAAAGGAGCCAAAAGCAGCAGGGGCTGAAGGCGTCTGCTGCTGGTCCCCTAGAGGGGTCCCTGTTTTAGGACAGAAACAAAACCCCTGAATGACTTCCTTACTTTCGAAAACAGCCTCCCATCGAATTCTGTGAAGGAGCTCAGCCACTGATTAGAAATAAAGGTTTGATGTTCAAATCTACAGAGGTGATCCATTCACTGAAAACCATAACTCACTCAGACTGATTTAAAATGGGTGTCCTCTCTCACTGTTTTAAAACTTTGGCTCAGCTTTGT... | GGGATGTCCTCAGGCCTGTCACCCAGTGTTACCCCGTTGGAGGCCAAAGGAGCCAAAAGCAGCAGGGGCTGAAGGCGTCTGCTGCTGGTCCCCTAGAGGGGTCCCTGTTTTAGGACAGAAACAAAACCCCTGAATGACTTCCTTACTTTCGAAAACAGCCTCCCATCGAATTCTGTGAAGGAGCTCAGCCACTGATTAGAAATAAAGGTTTGATGTTCAAATCTACAGAGGTGATCCATTCACTGAAAACCATAACTCACTCAGACTGATTTAAAATGGGTGTCCTCTCTCACTGTTTTAAAACTTTGGCTCAGCTTTGT... |
Task1_train_19714 | This variant lies on Chromosome 14 and affects the gene NKX2-1, SFTA3 (NK2 homeobox 1| surfactant associated 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Brain-lung-thyroid syndrome | TGTCACCCAGTGTTACCCCGTTGGAGGCCAAAGGAGCCAAAAGCAGCAGGGGCTGAAGGCGTCTGCTGCTGGTCCCCTAGAGGGGTCCCTGTTTTAGGACAGAAACAAAACCCCTGAATGACTTCCTTACTTTCGAAAACAGCCTCCCATCGAATTCTGTGAAGGAGCTCAGCCACTGATTAGAAATAAAGGTTTGATGTTCAAATCTACAGAGGTGATCCATTCACTGAAAACCATAACTCACTCAGACTGATTTAAAATGGGTGTCCTCTCTCACTGTTTTAAAACTTTGGCTCAGCTTTGTGAGACCACAGTAGACA... | TGTCACCCAGTGTTACCCCGTTGGAGGCCAAAGGAGCCAAAAGCAGCAGGGGCTGAAGGCGTCTGCTGCTGGTCCCCTAGAGGGGTCCCTGTTTTAGGACAGAAACAAAACCCCTGAATGACTTCCTTACTTTCGAAAACAGCCTCCCATCGAATTCTGTGAAGGAGCTCAGCCACTGATTAGAAATAAAGGTTTGATGTTCAAATCTACAGAGGTGATCCATTCACTGAAAACCATAACTCACTCAGACTGATTTAAAATGGGTGTCCTCTCTCACTGTTTTAAAACTTTGGCTCAGCTTTGTGAGACCACAGTAGACA... |
Task1_train_19715 | A mutation on Chromosome 14 affecting NKX2-1, SFTA3 (NK2 homeobox 1| surfactant associated 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Brain-lung-thyroid syndrome | AGTGTTACCCCGTTGGAGGCCAAAGGAGCCAAAAGCAGCAGGGGCTGAAGGCGTCTGCTGCTGGTCCCCTAGAGGGGTCCCTGTTTTAGGACAGAAACAAAACCCCTGAATGACTTCCTTACTTTCGAAAACAGCCTCCCATCGAATTCTGTGAAGGAGCTCAGCCACTGATTAGAAATAAAGGTTTGATGTTCAAATCTACAGAGGTGATCCATTCACTGAAAACCATAACTCACTCAGACTGATTTAAAATGGGTGTCCTCTCTCACTGTTTTAAAACTTTGGCTCAGCTTTGTGAGACCACAGTAGACAGTTCTGAG... | AGTGTTACCCCGTTGGAGGCCAAAGGAGCCAAAAGCAGCAGGGGCTGAAGGCGTCTGCTGCTGGTCCCCTAGAGGGGTCCCTGTTTTAGGACAGAAACAAAACCCCTGAATGACTTCCTTACTTTCGAAAACAGCCTCCCATCGAATTCTGTGAAGGAGCTCAGCCACTGATTAGAAATAAAGGTTTGATGTTCAAATCTACAGAGGTGATCCATTCACTGAAAACCATAACTCACTCAGACTGATTTAAAATGGGTGTCCTCTCTCACTGTTTTAAAACTTTGGCTCAGCTTTGTGAGACCACAGTAGACAGTTCTGAG... |
Task1_train_19716 | The following genetic variant occurs in NKX2-1, SFTA3 (NK2 homeobox 1| surfactant associated 3) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Inborn genetic diseases | TAGGACAGAAACAAAACCCCTGAATGACTTCCTTACTTTCGAAAACAGCCTCCCATCGAATTCTGTGAAGGAGCTCAGCCACTGATTAGAAATAAAGGTTTGATGTTCAAATCTACAGAGGTGATCCATTCACTGAAAACCATAACTCACTCAGACTGATTTAAAATGGGTGTCCTCTCTCACTGTTTTAAAACTTTGGCTCAGCTTTGTGAGACCACAGTAGACAGTTCTGAGACTCCTATCAACAGAAGTCTGACTCAGAAAATGAATTATTTGGTCTCTTTCTCTTCCTCTCTCCCTCTCCCTCTTGGTGGAAGTAG... | TAGGACAGAAACAAAACCCCTGAATGACTTCCTTACTTTCGAAAACAGCCTCCCATCGAATTCTGTGAAGGAGCTCAGCCACTGATTAGAAATAAAGGTTTGATGTTCAAATCTACAGAGGTGATCCATTCACTGAAAACCATAACTCACTCAGACTGATTTAAAATGGGTGTCCTCTCTCACTGTTTTAAAACTTTGGCTCAGCTTTGTGAGACCACAGTAGACAGTTCTGAGACTCCTATCAACAGAAGTCTGACTCAGAAAATGAATTATTTGGTCTCTTTCTCTTCCTCTCTCCCTCTCCCTCTTGGTGGAAGTAG... |
Task1_train_19717 | This variant impacts the gene NKX2-1, SFTA3 (NK2 homeobox 1| surfactant associated 3) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Brain-lung-thyroid syndrome | TAGGACAGAAACAAAACCCCTGAATGACTTCCTTACTTTCGAAAACAGCCTCCCATCGAATTCTGTGAAGGAGCTCAGCCACTGATTAGAAATAAAGGTTTGATGTTCAAATCTACAGAGGTGATCCATTCACTGAAAACCATAACTCACTCAGACTGATTTAAAATGGGTGTCCTCTCTCACTGTTTTAAAACTTTGGCTCAGCTTTGTGAGACCACAGTAGACAGTTCTGAGACTCCTATCAACAGAAGTCTGACTCAGAAAATGAATTATTTGGTCTCTTTCTCTTCCTCTCTCCCTCTCCCTCTTGGTGGAAGTAG... | TAGGACAGAAACAAAACCCCTGAATGACTTCCTTACTTTCGAAAACAGCCTCCCATCGAATTCTGTGAAGGAGCTCAGCCACTGATTAGAAATAAAGGTTTGATGTTCAAATCTACAGAGGTGATCCATTCACTGAAAACCATAACTCACTCAGACTGATTTAAAATGGGTGTCCTCTCTCACTGTTTTAAAACTTTGGCTCAGCTTTGTGAGACCACAGTAGACAGTTCTGAGACTCCTATCAACAGAAGTCTGACTCAGAAAATGAATTATTTGGTCTCTTTCTCTTCCTCTCTCCCTCTCCCTCTTGGTGGAAGTAG... |
Task1_train_19718 | Chromosome 14 houses a mutation in gene NKX2-1, NKX2-1-AS1 (NK2 homeobox 1| NKX2-1 antisense RNA 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | TCCGCGCCATTGGCCCGCCCGGCCCGCCCCAACCGACGGCGCCCTCCTGACCCAGGCAGCCTAGCGCTGGGGCCCAAGAGGCCCATCCGCGGGGAACTGCCAGCGCCTGCCCCAGGCCGTACCGTCGAGGGGGCTGTACTGGAGCGCTCACAGCCCCAACCCTGGCTGCCCTCCCTCAGTCTCAGTTCCCTCTTTCGAACCAAAAGACGCAGTGGGGGAAAGGCCGCTTCTGCTCCTTTCGTGCCCAGCCCGGGTCAGAGCATTAGGATTAGCTGGCCACAGGCGGCGAACTGGGCTCAGGCCGGGAGCTGGGGTCCTAC... | TCCGCGCCATTGGCCCGCCCGGCCCGCCCCAACCGACGGCGCCCTCCTGACCCAGGCAGCCTAGCGCTGGGGCCCAAGAGGCCCATCCGCGGGGAACTGCCAGCGCCTGCCCCAGGCCGTACCGTCGAGGGGGCTGTACTGGAGCGCTCACAGCCCCAACCCTGGCTGCCCTCCCTCAGTCTCAGTTCCCTCTTTCGAACCAAAAGACGCAGTGGGGGAAAGGCCGCTTCTGCTCCTTTCGTGCCCAGCCCGGGTCAGAGCATTAGGATTAGCTGGCCACAGGCGGCGAACTGGGCTCAGGCCGGGAGCTGGGGTCCTAC... |
Task1_train_19719 | Consider a variant on Chromosome 14 in gene PAX9 (paired box 9). Determine its clinical classification and disease relevance. | Pathogenic; Tooth agenesis, selective, 3 | TGTCTGTGAGGGGGGAGGAGGATTCCTTCCTGGTCAAGTTGCCGGGCATGTTCATTCCCTCCCGCAAGCCTAAGGCAGAGTCATAAGCTCCCCTACGATGCGGCAAAGTCTCAACTAATTTATCTACCAGCCTTAAGAAGGAGCTGCTGCTTCTAAAATCTTTAGATTTCCGAAGGCTCTCCTTGTGTAAAAATGCCAGGCGGTGCCACACGATGTCACCCAACAGGTATTGGAGGTCAGACCAGGCTGAAATTGCTATCAAGTCAAACTTCAAGAAGATTTTAAACATTTGAAACCAACCAACAAAAAGGGACAAGTTC... | TGTCTGTGAGGGGGGAGGAGGATTCCTTCCTGGTCAAGTTGCCGGGCATGTTCATTCCCTCCCGCAAGCCTAAGGCAGAGTCATAAGCTCCCCTACGATGCGGCAAAGTCTCAACTAATTTATCTACCAGCCTTAAGAAGGAGCTGCTGCTTCTAAAATCTTTAGATTTCCGAAGGCTCTCCTTGTGTAAAAATGCCAGGCGGTGCCACACGATGTCACCCAACAGGTATTGGAGGTCAGACCAGGCTGAAATTGCTATCAAGTCAAACTTCAAGAAGATTTTAAACATTTGAAACCAACCAACAAAAAGGGACAAGTTC... |
Task1_train_19720 | The variant affects gene PAX9 (paired box 9), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Tooth agenesis, selective, 3 | AGCTTAATGGAAGACGAGGGAATTACATCCATGTGCAGCGTCGGTGTCCACTGTCTTGGGACTAAGTCTCTTTCATATTTAAACAAAACTCTTTCGAGAGGGCTCGCTGGTTTGGAGAACCCTCACAAACGCTGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGT... | AGCTTAATGGAAGACGAGGGAATTACATCCATGTGCAGCGTCGGTGTCCACTGTCTTGGGACTAAGTCTCTTTCATATTTAAACAAAACTCTTTCGAGAGGGCTCGCTGGTTTGGAGAACCCTCACAAACGCTGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGT... |
Task1_train_19721 | The gene PAX9 (paired box 9), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Tooth agenesis, selective, 3 | TTAATGGAAGACGAGGGAATTACATCCATGTGCAGCGTCGGTGTCCACTGTCTTGGGACTAAGTCTCTTTCATATTTAAACAAAACTCTTTCGAGAGGGCTCGCTGGTTTGGAGAACCCTCACAAACGCTGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCA... | TTAATGGAAGACGAGGGAATTACATCCATGTGCAGCGTCGGTGTCCACTGTCTTGGGACTAAGTCTCTTTCATATTTAAACAAAACTCTTTCGAGAGGGCTCGCTGGTTTGGAGAACCCTCACAAACGCTGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCA... |
Task1_train_19722 | This variant affects the gene PAX9 (paired box 9) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hypodontia | GGGAATTACATCCATGTGCAGCGTCGGTGTCCACTGTCTTGGGACTAAGTCTCTTTCATATTTAAACAAAACTCTTTCGAGAGGGCTCGCTGGTTTGGAGAACCCTCACAAACGCTGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCACCTGGACTGGGGGG... | GGGAATTACATCCATGTGCAGCGTCGGTGTCCACTGTCTTGGGACTAAGTCTCTTTCATATTTAAACAAAACTCTTTCGAGAGGGCTCGCTGGTTTGGAGAACCCTCACAAACGCTGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCACCTGGACTGGGGGG... |
Task1_train_19723 | Here is a variant affecting PAX9 (paired box 9) on Chromosome 14. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Tooth agenesis, selective, 3 | ACATCCATGTGCAGCGTCGGTGTCCACTGTCTTGGGACTAAGTCTCTTTCATATTTAAACAAAACTCTTTCGAGAGGGCTCGCTGGTTTGGAGAACCCTCACAAACGCTGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCACCTGGACTGGGGGGTCGCCGC... | ACATCCATGTGCAGCGTCGGTGTCCACTGTCTTGGGACTAAGTCTCTTTCATATTTAAACAAAACTCTTTCGAGAGGGCTCGCTGGTTTGGAGAACCCTCACAAACGCTGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCACCTGGACTGGGGGGTCGCCGC... |
Task1_train_19724 | Consider a variant on Chromosome 14 in gene PAX9 (paired box 9). Determine its clinical classification and disease relevance. | Pathogenic; Tooth agenesis, selective, 3 | AAACAAAACTCTTTCGAGAGGGCTCGCTGGTTTGGAGAACCCTCACAAACGCTGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCACCTGGACTGGGGGGTCGCCGCAGGAAGCTGGCGGTAGGAGGAACCTCCCTGGCCTTAACAGTGGCCCCCACCTGTGG... | AAACAAAACTCTTTCGAGAGGGCTCGCTGGTTTGGAGAACCCTCACAAACGCTGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCACCTGGACTGGGGGGTCGCCGCAGGAAGCTGGCGGTAGGAGGAACCTCCCTGGCCTTAACAGTGGCCCCCACCTGTGG... |
Task1_train_19725 | This sequence change occurs on Chromosome 14, altering PAX9 (paired box 9). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Oligodontia | AACAAAACTCTTTCGAGAGGGCTCGCTGGTTTGGAGAACCCTCACAAACGCTGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCACCTGGACTGGGGGGTCGCCGCAGGAAGCTGGCGGTAGGAGGAACCTCCCTGGCCTTAACAGTGGCCCCCACCTGTGGC... | AACAAAACTCTTTCGAGAGGGCTCGCTGGTTTGGAGAACCCTCACAAACGCTGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCACCTGGACTGGGGGGTCGCCGCAGGAAGCTGGCGGTAGGAGGAACCTCCCTGGCCTTAACAGTGGCCCCCACCTGTGGC... |
Task1_train_19726 | Given this variant in gene PAX9 (paired box 9) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Oligodontia | ACTCTTTCGAGAGGGCTCGCTGGTTTGGAGAACCCTCACAAACGCTGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCACCTGGACTGGGGGGTCGCCGCAGGAAGCTGGCGGTAGGAGGAACCTCCCTGGCCTTAACAGTGGCCCCCACCTGTGGCTCGGGC... | ACTCTTTCGAGAGGGCTCGCTGGTTTGGAGAACCCTCACAAACGCTGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCACCTGGACTGGGGGGTCGCCGCAGGAAGCTGGCGGTAGGAGGAACCTCCCTGGCCTTAACAGTGGCCCCCACCTGTGGCTCGGGC... |
Task1_train_19727 | This gene mutation involves PAX9 (paired box 9) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hypodontia | TTCGAGAGGGCTCGCTGGTTTGGAGAACCCTCACAAACGCTGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCACCTGGACTGGGGGGTCGCCGCAGGAAGCTGGCGGTAGGAGGAACCTCCCTGGCCTTAACAGTGGCCCCCACCTGTGGCTCGGGCTCCCC... | TTCGAGAGGGCTCGCTGGTTTGGAGAACCCTCACAAACGCTGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCACCTGGACTGGGGGGTCGCCGCAGGAAGCTGGCGGTAGGAGGAACCTCCCTGGCCTTAACAGTGGCCCCCACCTGTGGCTCGGGCTCCCC... |
Task1_train_19728 | Located on Chromosome 14, this mutation impacts PAX9 (paired box 9). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Oligodontia | TCGAGAGGGCTCGCTGGTTTGGAGAACCCTCACAAACGCTGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCACCTGGACTGGGGGGTCGCCGCAGGAAGCTGGCGGTAGGAGGAACCTCCCTGGCCTTAACAGTGGCCCCCACCTGTGGCTCGGGCTCCCCG... | TCGAGAGGGCTCGCTGGTTTGGAGAACCCTCACAAACGCTGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCACCTGGACTGGGGGGTCGCCGCAGGAAGCTGGCGGTAGGAGGAACCTCCCTGGCCTTAACAGTGGCCCCCACCTGTGGCTCGGGCTCCCCG... |
Task1_train_19729 | This sequence variant lies in PAX9 (paired box 9) on Chromosome 14. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Tooth agenesis, selective, 3 | TGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCACCTGGACTGGGGGGTCGCCGCAGGAAGCTGGCGGTAGGAGGAACCTCCCTGGCCTTAACAGTGGCCCCCACCTGTGGCTCGGGCTCCCCGCAACCTCCTGGTTTCTTTGGCCGGCCTATCTTCTCACAC... | TGCCACCGAGGGCCAGGGGCCCAGGACAGTGGCTGAATGTGGCAGAGCCTTGGGCTCCGTAGTGAGTGCCCCACGCACTGGCAATTGGTCGACTTGGGGCTGTGCGCTAGCGTTAGCCGCCTGTGGTTCAGTTCCCCGCACACGGCGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCACCTGGACTGGGGGGTCGCCGCAGGAAGCTGGCGGTAGGAGGAACCTCCCTGGCCTTAACAGTGGCCCCCACCTGTGGCTCGGGCTCCCCGCAACCTCCTGGTTTCTTTGGCCGGCCTATCTTCTCACAC... |
Task1_train_19730 | Mutation context: Chromosome 14, Gene PAX9 (paired box 9). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Tooth agenesis, selective, 3 | CGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCACCTGGACTGGGGGGTCGCCGCAGGAAGCTGGCGGTAGGAGGAACCTCCCTGGCCTTAACAGTGGCCCCCACCTGTGGCTCGGGCTCCCCGCAACCTCCTGGTTTCTTTGGCCGGCCTATCTTCTCACACCTGCGCTCTCGCCACCTGGCATGGACTGAAGTGAGGTAGAATCGGCAGGTGACACAGATCCTCTCCTGACAGTCCCCAGAGGCCCGCATGACAGATTTTGCTAAGACAACTCCCTCACCCCTGTGCACGGTGGCGCCCGCCTCCC... | CGTGGCCCGTGCCTCGAGCCTGTGTGGCTAGTGGTTGGCCGGTCCACCTGGACTGGGGGGTCGCCGCAGGAAGCTGGCGGTAGGAGGAACCTCCCTGGCCTTAACAGTGGCCCCCACCTGTGGCTCGGGCTCCCCGCAACCTCCTGGTTTCTTTGGCCGGCCTATCTTCTCACACCTGCGCTCTCGCCACCTGGCATGGACTGAAGTGAGGTAGAATCGGCAGGTGACACAGATCCTCTCCTGACAGTCCCCAGAGGCCCGCATGACAGATTTTGCTAAGACAACTCCCTCACCCCTGTGCACGGTGGCGCCCGCCTCCC... |
Task1_train_19731 | This is a variant in SLC25A21 (solute carrier family 25 member 21), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Mitochondrial DNA depletion syndrome 18 | TGTAAAGGCCTATAAAGATTGGGATAGATGGGTTGGGAATTGTGGAAGTGTTTCCTAAATATATGAAAGTGTGAGCTGTTCACCAGCTTCAATTTACAGACTCTTGTTCTCTATCTTAGATTAATAGAAATGTTGGTTCATTGGGCTGAGATCTAAAGGTGAATGTGCATGTGTGTTTGTGTAGCAGGGTAGGAGGACAATAGTGTTAAAAGGGAGGAACTGCAAAGGGAGAGAGGGGAGGTGTAGGAGAAGGTTCTAGGAAATATTACCAGTATGTATAAGTAGGTGAGTGTAGCCTGATAAAAAAAATATATGTGTGG... | TGTAAAGGCCTATAAAGATTGGGATAGATGGGTTGGGAATTGTGGAAGTGTTTCCTAAATATATGAAAGTGTGAGCTGTTCACCAGCTTCAATTTACAGACTCTTGTTCTCTATCTTAGATTAATAGAAATGTTGGTTCATTGGGCTGAGATCTAAAGGTGAATGTGCATGTGTGTTTGTGTAGCAGGGTAGGAGGACAATAGTGTTAAAAGGGAGGAACTGCAAAGGGAGAGAGGGGAGGTGTAGGAGAAGGTTCTAGGAAATATTACCAGTATGTATAAGTAGGTGAGTGTAGCCTGATAAAAAAAATATATGTGTGG... |
Task1_train_19732 | The gene SEC23A (SEC23 homolog A, COPII coat complex component) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Craniolenticulosutural dysplasia | TAGCACATACGAGGTCTCCATTTGGGAACCTCATCCTGACTTCACACTTCTACCTACCCACCCAAAATTCACATATCCTAATCTAAAACCTTAGACACCCTATTCTATTTTTCCTCCCATAGAAAATCTGTCACCAAGATTGGTCTCCCCCCAGTCTCTCCTGCCACCAAAATGTAAGCTATCACAATACCTTCTGTCTAAAAAAAAAAAAATTGGAAAGCTTACTTTTGTTTTCTTACTTGAGATTCTTTTTCCTGACATATGCAGAATACCACTGTCAGATGAATCTTACCCAAAATACCTAATGACTTCTGCCTACA... | TAGCACATACGAGGTCTCCATTTGGGAACCTCATCCTGACTTCACACTTCTACCTACCCACCCAAAATTCACATATCCTAATCTAAAACCTTAGACACCCTATTCTATTTTTCCTCCCATAGAAAATCTGTCACCAAGATTGGTCTCCCCCCAGTCTCTCCTGCCACCAAAATGTAAGCTATCACAATACCTTCTGTCTAAAAAAAAAAAAATTGGAAAGCTTACTTTTGTTTTCTTACTTGAGATTCTTTTTCCTGACATATGCAGAATACCACTGTCAGATGAATCTTACCCAAAATACCTAATGACTTCTGCCTACA... |
Task1_train_19733 | Gene TOGARAM1 (TOG array regulator of axonemal microtubules 1) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Familial aplasia of the vermis | AAACAAACAAACAAAAACAAAAAAAAATTAACCCTCTGCGGCCGGAGGGTTAAGAGAAGTCGACAAAAGGAGAAGGGGGAGGCGAATAAAGGCCCCAAAGACCAGGAATTGAAAAAAAATACCCGATTTGTGAGCTTGGCCGTGGTCCAGATCTTCTGTCCTGATAAGCAGATGGCAAGAGGAAAGGATCGCAGTTACTCAGGGTGGTAGAGAGTAACGCGTTTACAAGGGTGACGAGCCCTGCACAAGAAGATGTCGCCTCTCTTTCCACCTGCTCCGCTCAGTCCTTTGCCTCTTACTCTAGCACCAGTGGCATTCGG... | AAACAAACAAACAAAAACAAAAAAAAATTAACCCTCTGCGGCCGGAGGGTTAAGAGAAGTCGACAAAAGGAGAAGGGGGAGGCGAATAAAGGCCCCAAAGACCAGGAATTGAAAAAAAATACCCGATTTGTGAGCTTGGCCGTGGTCCAGATCTTCTGTCCTGATAAGCAGATGGCAAGAGGAAAGGATCGCAGTTACTCAGGGTGGTAGAGAGTAACGCGTTTACAAGGGTGACGAGCCCTGCACAAGAAGATGTCGCCTCTCTTTCCACCTGCTCCGCTCAGTCCTTTGCCTCTTACTCTAGCACCAGTGGCATTCGG... |
Task1_train_19734 | The variant affects gene TOGARAM1 (TOG array regulator of axonemal microtubules 1), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Familial aplasia of the vermis | TATAGATTGTGTAAGTTAATATAATTATAATCTTTTAAATCTAAAAGATATAAAAGTTATCTTTACACTATAATGTAGTCTAATAAGTGCACAGTAGTATTGTGCCTAAAAAAATCAATATGCCTTAATTAAAAAATACTTAATTGCTAAAAAATACTACTGATCACCTGAACCCTCAGTGAGTTGTAATCTTTTTGCTAGTGGAGGATCTTACCCTGATGTTGATGGCTGCTGACTGATCAGGGTGGTAGTGGCTGGCTGTGGTAATTTTAGCAATCACAGTAAATATTACTGCTCATTGACAGTGTACCCGGTCACTC... | TATAGATTGTGTAAGTTAATATAATTATAATCTTTTAAATCTAAAAGATATAAAAGTTATCTTTACACTATAATGTAGTCTAATAAGTGCACAGTAGTATTGTGCCTAAAAAAATCAATATGCCTTAATTAAAAAATACTTAATTGCTAAAAAATACTACTGATCACCTGAACCCTCAGTGAGTTGTAATCTTTTTGCTAGTGGAGGATCTTACCCTGATGTTGATGGCTGCTGACTGATCAGGGTGGTAGTGGCTGGCTGTGGTAATTTTAGCAATCACAGTAAATATTACTGCTCATTGACAGTGTACCCGGTCACTC... |
Task1_train_19735 | This mutation is located in gene RPS29 (ribosomal protein S29) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Diamond-Blackfan anemia 13 | ATAATTACACAGTTCATCATTTTTTTTTTGAGAGAGAGTCTCGCTGTCTCCCGGACTGGAGTGCAATGGAGCCATCTCCACTCACTGCAACCTCAGCCTCCTGGGTTCAAGCGATTCTCCCACCTCAACCTCCTGAGTAGCTGAGACCACAGGCGCGGATCATCATACAAGGCTAATTTTTGTAGAAACAGGTTTTCGCCATGTTGGCAAGGCTTGTTGCGGAAACCCTGGGCTCAAGAAATCTGCCCATCTTGTCGGCCTCCCAAAGTGCTGGGATTTCAGGTGTGAGGCACCTCGCCTGGCCCAGTTCATCTAGGACA... | ATAATTACACAGTTCATCATTTTTTTTTTGAGAGAGAGTCTCGCTGTCTCCCGGACTGGAGTGCAATGGAGCCATCTCCACTCACTGCAACCTCAGCCTCCTGGGTTCAAGCGATTCTCCCACCTCAACCTCCTGAGTAGCTGAGACCACAGGCGCGGATCATCATACAAGGCTAATTTTTGTAGAAACAGGTTTTCGCCATGTTGGCAAGGCTTGTTGCGGAAACCCTGGGCTCAAGAAATCTGCCCATCTTGTCGGCCTCCCAAAGTGCTGGGATTTCAGGTGTGAGGCACCTCGCCTGGCCCAGTTCATCTAGGACA... |
Task1_train_19736 | This variant lies on Chromosome 14 and affects the gene MGAT2 (alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; MGAT2-congenital disorder of glycosylation | CTTCTTTTCTCATATAGAACAAGACTCACGAAAACCGACAGCAGCAGCTTTAGGAGGCCCAATACAGTCCGTTTTCCGTACGAAATGAGTTTAATTTATTGTGACTGCTCCAAAAGAAAAGTGCGGTTCATCTAATTTTCTTCCGAAAAGGAAGTTAAGGACCAGAGTTTCTTTGACCCCCTTCCCCCCACCCACCTCCTCCATTTTCCAGCTCTAGAGAATGGCTGGGGCAGCGCGCGACGTTGTAGCTACGGTTACGACCCGCCCCGTTCCTTCTACGAGAACCACATCAGCGTAGTATCACTTTTCCCCTCCGAAGC... | CTTCTTTTCTCATATAGAACAAGACTCACGAAAACCGACAGCAGCAGCTTTAGGAGGCCCAATACAGTCCGTTTTCCGTACGAAATGAGTTTAATTTATTGTGACTGCTCCAAAAGAAAAGTGCGGTTCATCTAATTTTCTTCCGAAAAGGAAGTTAAGGACCAGAGTTTCTTTGACCCCCTTCCCCCCACCCACCTCCTCCATTTTCCAGCTCTAGAGAATGGCTGGGGCAGCGCGCGACGTTGTAGCTACGGTTACGACCCGCCCCGTTCCTTCTACGAGAACCACATCAGCGTAGTATCACTTTTCCCCTCCGAAGC... |
Task1_train_19737 | Located on Chromosome 14, this mutation impacts MGAT2 (alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; MGAT2-congenital disorder of glycosylation | TAGAACAAGACTCACGAAAACCGACAGCAGCAGCTTTAGGAGGCCCAATACAGTCCGTTTTCCGTACGAAATGAGTTTAATTTATTGTGACTGCTCCAAAAGAAAAGTGCGGTTCATCTAATTTTCTTCCGAAAAGGAAGTTAAGGACCAGAGTTTCTTTGACCCCCTTCCCCCCACCCACCTCCTCCATTTTCCAGCTCTAGAGAATGGCTGGGGCAGCGCGCGACGTTGTAGCTACGGTTACGACCCGCCCCGTTCCTTCTACGAGAACCACATCAGCGTAGTATCACTTTTCCCCTCCGAAGCACAGTCACCCGTCA... | TAGAACAAGACTCACGAAAACCGACAGCAGCAGCTTTAGGAGGCCCAATACAGTCCGTTTTCCGTACGAAATGAGTTTAATTTATTGTGACTGCTCCAAAAGAAAAGTGCGGTTCATCTAATTTTCTTCCGAAAAGGAAGTTAAGGACCAGAGTTTCTTTGACCCCCTTCCCCCCACCCACCTCCTCCATTTTCCAGCTCTAGAGAATGGCTGGGGCAGCGCGCGACGTTGTAGCTACGGTTACGACCCGCCCCGTTCCTTCTACGAGAACCACATCAGCGTAGTATCACTTTTCCCCTCCGAAGCACAGTCACCCGTCA... |
Task1_train_19738 | Here’s a variant in MGAT2 (alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; MGAT2-congenital disorder of glycosylation | ATGAGTTTAATTTATTGTGACTGCTCCAAAAGAAAAGTGCGGTTCATCTAATTTTCTTCCGAAAAGGAAGTTAAGGACCAGAGTTTCTTTGACCCCCTTCCCCCCACCCACCTCCTCCATTTTCCAGCTCTAGAGAATGGCTGGGGCAGCGCGCGACGTTGTAGCTACGGTTACGACCCGCCCCGTTCCTTCTACGAGAACCACATCAGCGTAGTATCACTTTTCCCCTCCGAAGCACAGTCACCCGTCAGCAGCCTCGAGGGCTGACGTGTCCTTATCAAGCCGGCGCGCCCCGCGATTCTATAGCCGCCATGCCTGAG... | ATGAGTTTAATTTATTGTGACTGCTCCAAAAGAAAAGTGCGGTTCATCTAATTTTCTTCCGAAAAGGAAGTTAAGGACCAGAGTTTCTTTGACCCCCTTCCCCCCACCCACCTCCTCCATTTTCCAGCTCTAGAGAATGGCTGGGGCAGCGCGCGACGTTGTAGCTACGGTTACGACCCGCCCCGTTCCTTCTACGAGAACCACATCAGCGTAGTATCACTTTTCCCCTCCGAAGCACAGTCACCCGTCAGCAGCCTCGAGGGCTGACGTGTCCTTATCAAGCCGGCGCGCCCCGCGATTCTATAGCCGCCATGCCTGAG... |
Task1_train_19739 | This variant impacts the gene MGAT2 (alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; MGAT2-congenital disorder of glycosylation | TTTCTTTGACCCCCTTCCCCCCACCCACCTCCTCCATTTTCCAGCTCTAGAGAATGGCTGGGGCAGCGCGCGACGTTGTAGCTACGGTTACGACCCGCCCCGTTCCTTCTACGAGAACCACATCAGCGTAGTATCACTTTTCCCCTCCGAAGCACAGTCACCCGTCAGCAGCCTCGAGGGCTGACGTGTCCTTATCAAGCCGGCGCGCCCCGCGATTCTATAGCCGCCATGCCTGAGACCTTTTTCCTGAAGGGAGAAGCCTGCTCTCGAACTAAGGCCGGCGAGGGCCATAGGTCTCGCCTTCCCTTTCCTAAGAAGGC... | TTTCTTTGACCCCCTTCCCCCCACCCACCTCCTCCATTTTCCAGCTCTAGAGAATGGCTGGGGCAGCGCGCGACGTTGTAGCTACGGTTACGACCCGCCCCGTTCCTTCTACGAGAACCACATCAGCGTAGTATCACTTTTCCCCTCCGAAGCACAGTCACCCGTCAGCAGCCTCGAGGGCTGACGTGTCCTTATCAAGCCGGCGCGCCCCGCGATTCTATAGCCGCCATGCCTGAGACCTTTTTCCTGAAGGGAGAAGCCTGCTCTCGAACTAAGGCCGGCGAGGGCCATAGGTCTCGCCTTCCCTTTCCTAAGAAGGC... |
Task1_train_19740 | Gene MGAT2 (alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not specified | CAGCCTCGAGGGCTGACGTGTCCTTATCAAGCCGGCGCGCCCCGCGATTCTATAGCCGCCATGCCTGAGACCTTTTTCCTGAAGGGAGAAGCCTGCTCTCGAACTAAGGCCGGCGAGGGCCATAGGTCTCGCCTTCCCTTTCCTAAGAAGGCCTAGTCCTACCCAGGATTCTGAGCAAGGGAGGCTCCTATTGGAGCCGCTACAGCCTCGTTCTTAGCTTACCGAGAAACAGCGCCCGACACCTGGCCCTTCGCAGCTCTCGCCTTTCGCAGCTCTCGCCTAACAGGAAAGGGAAGAAACAGGCGGAAGTGGGAACTGCA... | CAGCCTCGAGGGCTGACGTGTCCTTATCAAGCCGGCGCGCCCCGCGATTCTATAGCCGCCATGCCTGAGACCTTTTTCCTGAAGGGAGAAGCCTGCTCTCGAACTAAGGCCGGCGAGGGCCATAGGTCTCGCCTTCCCTTTCCTAAGAAGGCCTAGTCCTACCCAGGATTCTGAGCAAGGGAGGCTCCTATTGGAGCCGCTACAGCCTCGTTCTTAGCTTACCGAGAAACAGCGCCCGACACCTGGCCCTTCGCAGCTCTCGCCTTTCGCAGCTCTCGCCTAACAGGAAAGGGAAGAAACAGGCGGAAGTGGGAACTGCA... |
Task1_train_19741 | This gene mutation involves NEMF (nuclear export mediator factor) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | AGTATTCCAAAAAAAAAAAAATACTGACTGGGTACAGAGGAATACGACTCACAAAAGTGAGCTCTGGAAGATAAGACTAGGAAAAAAAGGTGGGGCAGGGAGGAGAAAGAACACAGAAAGCCAAGAATGTTAGGCTATAGAATATGGATTTAGAAATCAGGAAACCATAAAAGGTGAGGTAACTAATGAAAATTATACTTTAAAAAAATTAATGTTGGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTCAGGAGGCTGAGGCTGGCGGATCACCTGAGGTCACGCATTTGAGATCAGACTGGCCAACATGGT... | AGTATTCCAAAAAAAAAAAAATACTGACTGGGTACAGAGGAATACGACTCACAAAAGTGAGCTCTGGAAGATAAGACTAGGAAAAAAAGGTGGGGCAGGGAGGAGAAAGAACACAGAAAGCCAAGAATGTTAGGCTATAGAATATGGATTTAGAAATCAGGAAACCATAAAAGGTGAGGTAACTAATGAAAATTATACTTTAAAAAAATTAATGTTGGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTCAGGAGGCTGAGGCTGGCGGATCACCTGAGGTCACGCATTTGAGATCAGACTGGCCAACATGGT... |
Task1_train_19742 | The gene SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Noonan syndrome 9 | TTAATAATGATATCTGATTATTAAAAATGATCCCGTATTTTCTAGAGATACATAGAAAAATATTTATAGATGAATTATGTTGTCTAGGATCTACTTCAAAATAATCATGGGGTGGGGTGTTTAAATTTGTAGGGAAACAGATGAAACAATGAGTTGATAATTACTGAAGGTGGTTGATGAATAAATGGGTTTATTATATTCTTGTATCTGCTCTTGTATGTGTTTTGAAAGTTTTCATAACAAGTTTGTTTTAAAAGTGGAAAGTATTTGGCAAAGTAGTCTACGGTCCAAAAAAAAAAATAGTGGTAAGTAGAAAAGTC... | TTAATAATGATATCTGATTATTAAAAATGATCCCGTATTTTCTAGAGATACATAGAAAAATATTTATAGATGAATTATGTTGTCTAGGATCTACTTCAAAATAATCATGGGGTGGGGTGTTTAAATTTGTAGGGAAACAGATGAAACAATGAGTTGATAATTACTGAAGGTGGTTGATGAATAAATGGGTTTATTATATTCTTGTATCTGCTCTTGTATGTGTTTTGAAAGTTTTCATAACAAGTTTGTTTTAAAAGTGGAAAGTATTTGGCAAAGTAGTCTACGGTCCAAAAAAAAAAATAGTGGTAAGTAGAAAAGTC... |
Task1_train_19743 | This is a variant in SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Noonan syndrome 9 | TTCTACTTTGCAAGTTGTCTTCAAAAACAATGTTTTCCTCAGAGTCTTTTACTACAAAACGATATACTTCAGGACTTGGTAATCTCAGTGGTTGCTCATTTTCTTCTTTCAATAATACTGAATCTAACATTCGATCTAGAGTACTACGATAATGAAGAGAAATAAGGGCTGCCATCCAGTTGTTTTTTTCTTCAGCAGACTTAGCAGCAAATATTATGCTGTTCTCATCTTTGGATACTAATTCAAATGCATGCTTGTGCTCACAAGTATCTTCTTTATCACAAATTTGTATTTTCCTCATGACAAATTTTTCTTTTAAC... | TTCTACTTTGCAAGTTGTCTTCAAAAACAATGTTTTCCTCAGAGTCTTTTACTACAAAACGATATACTTCAGGACTTGGTAATCTCAGTGGTTGCTCATTTTCTTCTTTCAATAATACTGAATCTAACATTCGATCTAGAGTACTACGATAATGAAGAGAAATAAGGGCTGCCATCCAGTTGTTTTTTTCTTCAGCAGACTTAGCAGCAAATATTATGCTGTTCTCATCTTTGGATACTAATTCAAATGCATGCTTGTGCTCACAAGTATCTTCTTTATCACAAATTTGTATTTTCCTCATGACAAATTTTTCTTTTAAC... |
Task1_train_19744 | A variant has been detected on Chromosome 14 in SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Noonan syndrome 9 | TCTACTTTGCAAGTTGTCTTCAAAAACAATGTTTTCCTCAGAGTCTTTTACTACAAAACGATATACTTCAGGACTTGGTAATCTCAGTGGTTGCTCATTTTCTTCTTTCAATAATACTGAATCTAACATTCGATCTAGAGTACTACGATAATGAAGAGAAATAAGGGCTGCCATCCAGTTGTTTTTTTCTTCAGCAGACTTAGCAGCAAATATTATGCTGTTCTCATCTTTGGATACTAATTCAAATGCATGCTTGTGCTCACAAGTATCTTCTTTATCACAAATTTGTATTTTCCTCATGACAAATTTTTCTTTTAACC... | TCTACTTTGCAAGTTGTCTTCAAAAACAATGTTTTCCTCAGAGTCTTTTACTACAAAACGATATACTTCAGGACTTGGTAATCTCAGTGGTTGCTCATTTTCTTCTTTCAATAATACTGAATCTAACATTCGATCTAGAGTACTACGATAATGAAGAGAAATAAGGGCTGCCATCCAGTTGTTTTTTTCTTCAGCAGACTTAGCAGCAAATATTATGCTGTTCTCATCTTTGGATACTAATTCAAATGCATGCTTGTGCTCACAAGTATCTTCTTTATCACAAATTTGTATTTTCCTCATGACAAATTTTTCTTTTAACC... |
Task1_train_19745 | This variant affects gene SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; Noonan syndrome 9 | GAGGATTCCAGAATTACAAATATTTGAAGGATAAAATAGTGAGATATTTATTTGCTTTATTAAAAAAAAAAAAAAAAAAAACCTTCAATTTAAGTTTACCTGAAAGTGTAGAGCAACTGCAGGTCTGGCCATCAATTTATTGAAATGTTCATGAAACTCTGGTGAAAGAATGTCCTGTGATAATGTTTCATAAGGATCAAATGCTTGCTCCTATTTTTTTAAAAAGAGAAAAAGCATTAGGTTTAAAAGAATATATTTTCTACCAATATGGTACAGATTATTATCACTTGATCCCAGGAGTTCGAGGTTACAGTGAGCTA... | GAGGATTCCAGAATTACAAATATTTGAAGGATAAAATAGTGAGATATTTATTTGCTTTATTAAAAAAAAAAAAAAAAAAAACCTTCAATTTAAGTTTACCTGAAAGTGTAGAGCAACTGCAGGTCTGGCCATCAATTTATTGAAATGTTCATGAAACTCTGGTGAAAGAATGTCCTGTGATAATGTTTCATAAGGATCAAATGCTTGCTCCTATTTTTTTAAAAAGAGAAAAAGCATTAGGTTTAAAAGAATATATTTTCTACCAATATGGTACAGATTATTATCACTTGATCCCAGGAGTTCGAGGTTACAGTGAGCTA... |
Task1_train_19746 | Gene SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; RASopathy | GAGGATTCCAGAATTACAAATATTTGAAGGATAAAATAGTGAGATATTTATTTGCTTTATTAAAAAAAAAAAAAAAAAAAACCTTCAATTTAAGTTTACCTGAAAGTGTAGAGCAACTGCAGGTCTGGCCATCAATTTATTGAAATGTTCATGAAACTCTGGTGAAAGAATGTCCTGTGATAATGTTTCATAAGGATCAAATGCTTGCTCCTATTTTTTTAAAAAGAGAAAAAGCATTAGGTTTAAAAGAATATATTTTCTACCAATATGGTACAGATTATTATCACTTGATCCCAGGAGTTCGAGGTTACAGTGAGCTA... | GAGGATTCCAGAATTACAAATATTTGAAGGATAAAATAGTGAGATATTTATTTGCTTTATTAAAAAAAAAAAAAAAAAAAACCTTCAATTTAAGTTTACCTGAAAGTGTAGAGCAACTGCAGGTCTGGCCATCAATTTATTGAAATGTTCATGAAACTCTGGTGAAAGAATGTCCTGTGATAATGTTTCATAAGGATCAAATGCTTGCTCCTATTTTTTTAAAAAGAGAAAAAGCATTAGGTTTAAAAGAATATATTTTCTACCAATATGGTACAGATTATTATCACTTGATCCCAGGAGTTCGAGGTTACAGTGAGCTA... |
Task1_train_19747 | A variant was discovered in gene SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Noonan syndrome 9 | AGAATTACAAATATTTGAAGGATAAAATAGTGAGATATTTATTTGCTTTATTAAAAAAAAAAAAAAAAAAAACCTTCAATTTAAGTTTACCTGAAAGTGTAGAGCAACTGCAGGTCTGGCCATCAATTTATTGAAATGTTCATGAAACTCTGGTGAAAGAATGTCCTGTGATAATGTTTCATAAGGATCAAATGCTTGCTCCTATTTTTTTAAAAAGAGAAAAAGCATTAGGTTTAAAAGAATATATTTTCTACCAATATGGTACAGATTATTATCACTTGATCCCAGGAGTTCGAGGTTACAGTGAGCTATGATTGTGC... | AGAATTACAAATATTTGAAGGATAAAATAGTGAGATATTTATTTGCTTTATTAAAAAAAAAAAAAAAAAAAACCTTCAATTTAAGTTTACCTGAAAGTGTAGAGCAACTGCAGGTCTGGCCATCAATTTATTGAAATGTTCATGAAACTCTGGTGAAAGAATGTCCTGTGATAATGTTTCATAAGGATCAAATGCTTGCTCCTATTTTTTTAAAAAGAGAAAAAGCATTAGGTTTAAAAGAATATATTTTCTACCAATATGGTACAGATTATTATCACTTGATCCCAGGAGTTCGAGGTTACAGTGAGCTATGATTGTGC... |
Task1_train_19748 | Gene L2HGDH (L-2-hydroxyglutarate dehydrogenase) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | CAAATTCTTTGTAGATAATAAATATAAGAGACATGCCATGCAAGACTTCCATACTGAAAATTAAAATACATTATGTAATAAATTAAAACAGATCCAGACAAAGGGAGGGATATATGAAGTTCAAGGATTGGAAGACTCCACACTACAAAGATGTAAATTGTCTCCACACAGACATACAGATTCATTGCAATCTCAGTCAAAATCATAACAGGTTATCTTGTGGAGTTTAGCAAATTAACTCCAAAATTTATGTAGAAATGTAAAGATCCAAGAGTAGCCAAGATAATGTTGAAGAAAAAAACGGAAGGCCTTACTCTACC... | CAAATTCTTTGTAGATAATAAATATAAGAGACATGCCATGCAAGACTTCCATACTGAAAATTAAAATACATTATGTAATAAATTAAAACAGATCCAGACAAAGGGAGGGATATATGAAGTTCAAGGATTGGAAGACTCCACACTACAAAGATGTAAATTGTCTCCACACAGACATACAGATTCATTGCAATCTCAGTCAAAATCATAACAGGTTATCTTGTGGAGTTTAGCAAATTAACTCCAAAATTTATGTAGAAATGTAAAGATCCAAGAGTAGCCAAGATAATGTTGAAGAAAAAAACGGAAGGCCTTACTCTACC... |
Task1_train_19749 | This alteration occurs within gene L2HGDH (L-2-hydroxyglutarate dehydrogenase) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; L-2-hydroxyglutaric aciduria | GGCTGAAGTGCAGTGGCATAATCATGGATCACTGCAGCCTTGATCTCCCAGGCTCAAGCAGTCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTATAGTTGTGCACCACCGCACCCGGCTAACTTTTTAAATTTTTTGTAGAGATAGGGTCTCACTATGTTGCCCGAGCTGGTCTCAAACCCTTGGGCTCAAGAACTATTTTCTAAAAAGGAAAAAATAAAAGACACTCAACATCATTATCACTAGGGAACTGCAAATCAAAACTTCCACTAGGATGGCTAAAATAGAAAAGACAAACCAAAATAGATGTTGGCAAGGA... | GGCTGAAGTGCAGTGGCATAATCATGGATCACTGCAGCCTTGATCTCCCAGGCTCAAGCAGTCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTATAGTTGTGCACCACCGCACCCGGCTAACTTTTTAAATTTTTTGTAGAGATAGGGTCTCACTATGTTGCCCGAGCTGGTCTCAAACCCTTGGGCTCAAGAACTATTTTCTAAAAAGGAAAAAATAAAAGACACTCAACATCATTATCACTAGGGAACTGCAAATCAAAACTTCCACTAGGATGGCTAAAATAGAAAAGACAAACCAAAATAGATGTTGGCAAGGA... |
Task1_train_19750 | This gene mutation involves L2HGDH (L-2-hydroxyglutarate dehydrogenase) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; L-2-hydroxyglutaric aciduria | CTCCCACCTCAGCCTCCCAAGTAGCTGGGACTATAGTTGTGCACCACCGCACCCGGCTAACTTTTTAAATTTTTTGTAGAGATAGGGTCTCACTATGTTGCCCGAGCTGGTCTCAAACCCTTGGGCTCAAGAACTATTTTCTAAAAAGGAAAAAATAAAAGACACTCAACATCATTATCACTAGGGAACTGCAAATCAAAACTTCCACTAGGATGGCTAAAATAGAAAAGACAAACCAAAATAGATGTTGGCAAGGACATGGAAAATTGGAATCCTTATTAATTACTGGTGGGAATGTAAAATAGCACAGAGCTTTGGAA... | CTCCCACCTCAGCCTCCCAAGTAGCTGGGACTATAGTTGTGCACCACCGCACCCGGCTAACTTTTTAAATTTTTTGTAGAGATAGGGTCTCACTATGTTGCCCGAGCTGGTCTCAAACCCTTGGGCTCAAGAACTATTTTCTAAAAAGGAAAAAATAAAAGACACTCAACATCATTATCACTAGGGAACTGCAAATCAAAACTTCCACTAGGATGGCTAAAATAGAAAAGACAAACCAAAATAGATGTTGGCAAGGACATGGAAAATTGGAATCCTTATTAATTACTGGTGGGAATGTAAAATAGCACAGAGCTTTGGAA... |
Task1_train_19751 | The gene L2HGDH (L-2-hydroxyglutarate dehydrogenase) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; L2HGDH-related disorder | TCCCAAGTAGCTGGGACTATAGTTGTGCACCACCGCACCCGGCTAACTTTTTAAATTTTTTGTAGAGATAGGGTCTCACTATGTTGCCCGAGCTGGTCTCAAACCCTTGGGCTCAAGAACTATTTTCTAAAAAGGAAAAAATAAAAGACACTCAACATCATTATCACTAGGGAACTGCAAATCAAAACTTCCACTAGGATGGCTAAAATAGAAAAGACAAACCAAAATAGATGTTGGCAAGGACATGGAAAATTGGAATCCTTATTAATTACTGGTGGGAATGTAAAATAGCACAGAGCTTTGGAAAACAATTTGGCAGT... | TCCCAAGTAGCTGGGACTATAGTTGTGCACCACCGCACCCGGCTAACTTTTTAAATTTTTTGTAGAGATAGGGTCTCACTATGTTGCCCGAGCTGGTCTCAAACCCTTGGGCTCAAGAACTATTTTCTAAAAAGGAAAAAATAAAAGACACTCAACATCATTATCACTAGGGAACTGCAAATCAAAACTTCCACTAGGATGGCTAAAATAGAAAAGACAAACCAAAATAGATGTTGGCAAGGACATGGAAAATTGGAATCCTTATTAATTACTGGTGGGAATGTAAAATAGCACAGAGCTTTGGAAAACAATTTGGCAGT... |
Task1_train_19752 | A mutation found in L2HGDH (L-2-hydroxyglutarate dehydrogenase) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; L-2-hydroxyglutaric aciduria | TCCCAAGTAGCTGGGACTATAGTTGTGCACCACCGCACCCGGCTAACTTTTTAAATTTTTTGTAGAGATAGGGTCTCACTATGTTGCCCGAGCTGGTCTCAAACCCTTGGGCTCAAGAACTATTTTCTAAAAAGGAAAAAATAAAAGACACTCAACATCATTATCACTAGGGAACTGCAAATCAAAACTTCCACTAGGATGGCTAAAATAGAAAAGACAAACCAAAATAGATGTTGGCAAGGACATGGAAAATTGGAATCCTTATTAATTACTGGTGGGAATGTAAAATAGCACAGAGCTTTGGAAAACAATTTGGCAGT... | TCCCAAGTAGCTGGGACTATAGTTGTGCACCACCGCACCCGGCTAACTTTTTAAATTTTTTGTAGAGATAGGGTCTCACTATGTTGCCCGAGCTGGTCTCAAACCCTTGGGCTCAAGAACTATTTTCTAAAAAGGAAAAAATAAAAGACACTCAACATCATTATCACTAGGGAACTGCAAATCAAAACTTCCACTAGGATGGCTAAAATAGAAAAGACAAACCAAAATAGATGTTGGCAAGGACATGGAAAATTGGAATCCTTATTAATTACTGGTGGGAATGTAAAATAGCACAGAGCTTTGGAAAACAATTTGGCAGT... |
Task1_train_19753 | This variant lies on Chromosome 14 and affects the gene DMAC2L, L2HGDH (distal membrane arm assembly component 2 like| L-2-hydroxyglutarate dehydrogenase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; L-2-hydroxyglutaric aciduria | AAGCTGAACAATGTCCGTGGATTTTGCCAATATCAATTTCCTAGTTTTGATATTGTACTATAGTTATATAAGATGTTTTCATTGGGGTAAATGGGGTGAAGGGTACATGGGATCTCTTTGTACTGTTTATTTATTTTTATTTTTTATTTTGTAGAGAAGGGATCTTATATTTTGCCCAGGCTGGTCTCAAACTTCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGCACTGGGATTACAGGCCTGAGTCACCACGCTTGGCCTGTACTATTTTTGCAATTTCCAATGGATCTATAATTACTTCAAAATAAAAGT... | AAGCTGAACAATGTCCGTGGATTTTGCCAATATCAATTTCCTAGTTTTGATATTGTACTATAGTTATATAAGATGTTTTCATTGGGGTAAATGGGGTGAAGGGTACATGGGATCTCTTTGTACTGTTTATTTATTTTTATTTTTTATTTTGTAGAGAAGGGATCTTATATTTTGCCCAGGCTGGTCTCAAACTTCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGCACTGGGATTACAGGCCTGAGTCACCACGCTTGGCCTGTACTATTTTTGCAATTTCCAATGGATCTATAATTACTTCAAAATAAAAGT... |
Task1_train_19754 | Here is a genetic alteration in DMAC2L, L2HGDH (distal membrane arm assembly component 2 like| L-2-hydroxyglutarate dehydrogenase) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Inborn genetic diseases | AAGCTGAACAATGTCCGTGGATTTTGCCAATATCAATTTCCTAGTTTTGATATTGTACTATAGTTATATAAGATGTTTTCATTGGGGTAAATGGGGTGAAGGGTACATGGGATCTCTTTGTACTGTTTATTTATTTTTATTTTTTATTTTGTAGAGAAGGGATCTTATATTTTGCCCAGGCTGGTCTCAAACTTCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGCACTGGGATTACAGGCCTGAGTCACCACGCTTGGCCTGTACTATTTTTGCAATTTCCAATGGATCTATAATTACTTCAAAATAAAAGT... | AAGCTGAACAATGTCCGTGGATTTTGCCAATATCAATTTCCTAGTTTTGATATTGTACTATAGTTATATAAGATGTTTTCATTGGGGTAAATGGGGTGAAGGGTACATGGGATCTCTTTGTACTGTTTATTTATTTTTATTTTTTATTTTGTAGAGAAGGGATCTTATATTTTGCCCAGGCTGGTCTCAAACTTCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGCACTGGGATTACAGGCCTGAGTCACCACGCTTGGCCTGTACTATTTTTGCAATTTCCAATGGATCTATAATTACTTCAAAATAAAAGT... |
Task1_train_19755 | This variant impacts the gene ATL1 (atlastin GTPase 1) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hereditary spastic paraplegia 3A | GAGAACAACTCTGATTCGTGGCTATAGGCAATGGTCTGTTGTCTCTAGATGCTTTGTATGATTGTTCAGAAAGTAGTGGTGTATACTTATCTCTACTCATGCAAAACTAAAATTATATATTTTCAGTATTTCAATAGCATTATTTTATAGATGAACAGCAATAAAGTTATCAATGTGATATATATATATCAATGTGATCTGAAGACTTATTTAAAATTATGCCAAGAGATGATTGCCTTGCTTTTATCTAGTTATAAAACTTCTTATCAAATAGACATCATGAAGAATGTCTACCTAAAGATATTTTCAAAAATTTAGAT... | GAGAACAACTCTGATTCGTGGCTATAGGCAATGGTCTGTTGTCTCTAGATGCTTTGTATGATTGTTCAGAAAGTAGTGGTGTATACTTATCTCTACTCATGCAAAACTAAAATTATATATTTTCAGTATTTCAATAGCATTATTTTATAGATGAACAGCAATAAAGTTATCAATGTGATATATATATATCAATGTGATCTGAAGACTTATTTAAAATTATGCCAAGAGATGATTGCCTTGCTTTTATCTAGTTATAAAACTTCTTATCAAATAGACATCATGAAGAATGTCTACCTAAAGATATTTTCAAAAATTTAGAT... |
Task1_train_19756 | A mutation found in ATL1 (atlastin GTPase 1) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hereditary spastic paraplegia 3A | ATTGGAAGTTAGAATAGATTTTGAAGATGTGTGGATCTGGACCAGAAAAGGAAGAATGGACATTCTGGACTATGAGGAATAAGTATAATATATGTATTAAACAGAGTGTACACCTTCTTCCCTAGAGTGGAAATTAAGTATTGGAGATGAAGAAGAAATAAGATTGAATAGGTTATTGAGCCAGATAATAGAACAAATTCACAGAAGAACCAAAGCTCTTGATAACGGTCTAAAATGCCTTTTAGAACAAGATAGGATATAATTAAATACATTTTTCTTTAAATTAGTTTATGTAGATTTTTTATCAGTCCAAGTAGTCC... | ATTGGAAGTTAGAATAGATTTTGAAGATGTGTGGATCTGGACCAGAAAAGGAAGAATGGACATTCTGGACTATGAGGAATAAGTATAATATATGTATTAAACAGAGTGTACACCTTCTTCCCTAGAGTGGAAATTAAGTATTGGAGATGAAGAAGAAATAAGATTGAATAGGTTATTGAGCCAGATAATAGAACAAATTCACAGAAGAACCAAAGCTCTTGATAACGGTCTAAAATGCCTTTTAGAACAAGATAGGATATAATTAAATACATTTTTCTTTAAATTAGTTTATGTAGATTTTTTATCAGTCCAAGTAGTCC... |
Task1_train_19757 | A variant was discovered in gene ATL1 (atlastin GTPase 1), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hereditary spastic paraplegia 3A | GGAAGTTAGAATAGATTTTGAAGATGTGTGGATCTGGACCAGAAAAGGAAGAATGGACATTCTGGACTATGAGGAATAAGTATAATATATGTATTAAACAGAGTGTACACCTTCTTCCCTAGAGTGGAAATTAAGTATTGGAGATGAAGAAGAAATAAGATTGAATAGGTTATTGAGCCAGATAATAGAACAAATTCACAGAAGAACCAAAGCTCTTGATAACGGTCTAAAATGCCTTTTAGAACAAGATAGGATATAATTAAATACATTTTTCTTTAAATTAGTTTATGTAGATTTTTTATCAGTCCAAGTAGTCCTCT... | GGAAGTTAGAATAGATTTTGAAGATGTGTGGATCTGGACCAGAAAAGGAAGAATGGACATTCTGGACTATGAGGAATAAGTATAATATATGTATTAAACAGAGTGTACACCTTCTTCCCTAGAGTGGAAATTAAGTATTGGAGATGAAGAAGAAATAAGATTGAATAGGTTATTGAGCCAGATAATAGAACAAATTCACAGAAGAACCAAAGCTCTTGATAACGGTCTAAAATGCCTTTTAGAACAAGATAGGATATAATTAAATACATTTTTCTTTAAATTAGTTTATGTAGATTTTTTATCAGTCCAAGTAGTCCTCT... |
Task1_train_19758 | A variant on Chromosome 14 in gene ATL1 (atlastin GTPase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary spastic paraplegia 3A | GGAAGTTAGAATAGATTTTGAAGATGTGTGGATCTGGACCAGAAAAGGAAGAATGGACATTCTGGACTATGAGGAATAAGTATAATATATGTATTAAACAGAGTGTACACCTTCTTCCCTAGAGTGGAAATTAAGTATTGGAGATGAAGAAGAAATAAGATTGAATAGGTTATTGAGCCAGATAATAGAACAAATTCACAGAAGAACCAAAGCTCTTGATAACGGTCTAAAATGCCTTTTAGAACAAGATAGGATATAATTAAATACATTTTTCTTTAAATTAGTTTATGTAGATTTTTTATCAGTCCAAGTAGTCCTCT... | GGAAGTTAGAATAGATTTTGAAGATGTGTGGATCTGGACCAGAAAAGGAAGAATGGACATTCTGGACTATGAGGAATAAGTATAATATATGTATTAAACAGAGTGTACACCTTCTTCCCTAGAGTGGAAATTAAGTATTGGAGATGAAGAAGAAATAAGATTGAATAGGTTATTGAGCCAGATAATAGAACAAATTCACAGAAGAACCAAAGCTCTTGATAACGGTCTAAAATGCCTTTTAGAACAAGATAGGATATAATTAAATACATTTTTCTTTAAATTAGTTTATGTAGATTTTTTATCAGTCCAAGTAGTCCTCT... |
Task1_train_19759 | A genomic change on Chromosome 14 affects ATL1 (atlastin GTPase 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary spastic paraplegia 3A | TGAAGATGTGTGGATCTGGACCAGAAAAGGAAGAATGGACATTCTGGACTATGAGGAATAAGTATAATATATGTATTAAACAGAGTGTACACCTTCTTCCCTAGAGTGGAAATTAAGTATTGGAGATGAAGAAGAAATAAGATTGAATAGGTTATTGAGCCAGATAATAGAACAAATTCACAGAAGAACCAAAGCTCTTGATAACGGTCTAAAATGCCTTTTAGAACAAGATAGGATATAATTAAATACATTTTTCTTTAAATTAGTTTATGTAGATTTTTTATCAGTCCAAGTAGTCCTCTCCCAAATTCCTCTGCATT... | TGAAGATGTGTGGATCTGGACCAGAAAAGGAAGAATGGACATTCTGGACTATGAGGAATAAGTATAATATATGTATTAAACAGAGTGTACACCTTCTTCCCTAGAGTGGAAATTAAGTATTGGAGATGAAGAAGAAATAAGATTGAATAGGTTATTGAGCCAGATAATAGAACAAATTCACAGAAGAACCAAAGCTCTTGATAACGGTCTAAAATGCCTTTTAGAACAAGATAGGATATAATTAAATACATTTTTCTTTAAATTAGTTTATGTAGATTTTTTATCAGTCCAAGTAGTCCTCTCCCAAATTCCTCTGCATT... |
Task1_train_19760 | Here is a variant affecting ATL1 (atlastin GTPase 1) on Chromosome 14. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hereditary spastic paraplegia 3A | TCAAATTGACTGCTTTGGTTAGAAAAGGTCATATTATCTTATTGGGATTTTTGTTGTTGTTGTTTAAAGCCTACAATAAACTCAGTAACATAAATCTTATATGCGTATACATTGAGACCATCTATTGTAAGTTATGTTTAATGAAACAGTGTTTATAAATATAAATTTTGTTCTACATAGCCAGTAGAAACATTTCTAAATGTAAAAACATTTACATGTGTTCATAGCTTTTAAAAACACCTTAATGTACATTTAGGAAAGTAAATAGCTTATATATAAAATTTATCTTTCTTTCCTTTCCTTTTTTCTTTCACTTTTTT... | TCAAATTGACTGCTTTGGTTAGAAAAGGTCATATTATCTTATTGGGATTTTTGTTGTTGTTGTTTAAAGCCTACAATAAACTCAGTAACATAAATCTTATATGCGTATACATTGAGACCATCTATTGTAAGTTATGTTTAATGAAACAGTGTTTATAAATATAAATTTTGTTCTACATAGCCAGTAGAAACATTTCTAAATGTAAAAACATTTACATGTGTTCATAGCTTTTAAAAACACCTTAATGTACATTTAGGAAAGTAAATAGCTTATATATAAAATTTATCTTTCTTTCCTTTCCTTTTTTCTTTCACTTTTTT... |
Task1_train_19761 | A change on Chromosome 14 affects gene ATL1 (atlastin GTPase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 3A | GACTGCTTTGGTTAGAAAAGGTCATATTATCTTATTGGGATTTTTGTTGTTGTTGTTTAAAGCCTACAATAAACTCAGTAACATAAATCTTATATGCGTATACATTGAGACCATCTATTGTAAGTTATGTTTAATGAAACAGTGTTTATAAATATAAATTTTGTTCTACATAGCCAGTAGAAACATTTCTAAATGTAAAAACATTTACATGTGTTCATAGCTTTTAAAAACACCTTAATGTACATTTAGGAAAGTAAATAGCTTATATATAAAATTTATCTTTCTTTCCTTTCCTTTTTTCTTTCACTTTTTTAAAAGTC... | GACTGCTTTGGTTAGAAAAGGTCATATTATCTTATTGGGATTTTTGTTGTTGTTGTTTAAAGCCTACAATAAACTCAGTAACATAAATCTTATATGCGTATACATTGAGACCATCTATTGTAAGTTATGTTTAATGAAACAGTGTTTATAAATATAAATTTTGTTCTACATAGCCAGTAGAAACATTTCTAAATGTAAAAACATTTACATGTGTTCATAGCTTTTAAAAACACCTTAATGTACATTTAGGAAAGTAAATAGCTTATATATAAAATTTATCTTTCTTTCCTTTCCTTTTTTCTTTCACTTTTTTAAAAGTC... |
Task1_train_19762 | The gene ATL1 (atlastin GTPase 1) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hereditary spastic paraplegia 3A | TTATTATTTTGTCTTGCTTGGAAGAATGAGTTTTTTTGACTAATTGCATAAATTAGGTTCATAAAATAATTTTAATATTCCATCTCCAGAGCAGGTGACTACTGTATTTCTGGAACCATTTTATAATCATTGTTCATTCCTTATTGTCTCTCAAGCTTATTTTACTTCTCTCTCAAGGTCTTACAAATATCATGTAAGCATGTACATAAGAGAGTCCATTTTGTGGTAACTGATATTTTTAAAAGTAGGGAATGATGAAGTAAGTGCTTAGGATGATGCCAGTTATCTTATCATTGTAATTTTATTTCTTTATCAAGGTA... | TTATTATTTTGTCTTGCTTGGAAGAATGAGTTTTTTTGACTAATTGCATAAATTAGGTTCATAAAATAATTTTAATATTCCATCTCCAGAGCAGGTGACTACTGTATTTCTGGAACCATTTTATAATCATTGTTCATTCCTTATTGTCTCTCAAGCTTATTTTACTTCTCTCTCAAGGTCTTACAAATATCATGTAAGCATGTACATAAGAGAGTCCATTTTGTGGTAACTGATATTTTTAAAAGTAGGGAATGATGAAGTAAGTGCTTAGGATGATGCCAGTTATCTTATCATTGTAATTTTATTTCTTTATCAAGGTA... |
Task1_train_19763 | This gene mutation involves ATL1 (atlastin GTPase 1) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary spastic paraplegia 3A | TGTCTTGCTTGGAAGAATGAGTTTTTTTGACTAATTGCATAAATTAGGTTCATAAAATAATTTTAATATTCCATCTCCAGAGCAGGTGACTACTGTATTTCTGGAACCATTTTATAATCATTGTTCATTCCTTATTGTCTCTCAAGCTTATTTTACTTCTCTCTCAAGGTCTTACAAATATCATGTAAGCATGTACATAAGAGAGTCCATTTTGTGGTAACTGATATTTTTAAAAGTAGGGAATGATGAAGTAAGTGCTTAGGATGATGCCAGTTATCTTATCATTGTAATTTTATTTCTTTATCAAGGTATATAACTTA... | TGTCTTGCTTGGAAGAATGAGTTTTTTTGACTAATTGCATAAATTAGGTTCATAAAATAATTTTAATATTCCATCTCCAGAGCAGGTGACTACTGTATTTCTGGAACCATTTTATAATCATTGTTCATTCCTTATTGTCTCTCAAGCTTATTTTACTTCTCTCTCAAGGTCTTACAAATATCATGTAAGCATGTACATAAGAGAGTCCATTTTGTGGTAACTGATATTTTTAAAAGTAGGGAATGATGAAGTAAGTGCTTAGGATGATGCCAGTTATCTTATCATTGTAATTTTATTTCTTTATCAAGGTATATAACTTA... |
Task1_train_19764 | A mutation found in ATL1 (atlastin GTPase 1) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hereditary spastic paraplegia 3A | AAGAATGAGTTTTTTTGACTAATTGCATAAATTAGGTTCATAAAATAATTTTAATATTCCATCTCCAGAGCAGGTGACTACTGTATTTCTGGAACCATTTTATAATCATTGTTCATTCCTTATTGTCTCTCAAGCTTATTTTACTTCTCTCTCAAGGTCTTACAAATATCATGTAAGCATGTACATAAGAGAGTCCATTTTGTGGTAACTGATATTTTTAAAAGTAGGGAATGATGAAGTAAGTGCTTAGGATGATGCCAGTTATCTTATCATTGTAATTTTATTTCTTTATCAAGGTATATAACTTATCCCAAAATGTC... | AAGAATGAGTTTTTTTGACTAATTGCATAAATTAGGTTCATAAAATAATTTTAATATTCCATCTCCAGAGCAGGTGACTACTGTATTTCTGGAACCATTTTATAATCATTGTTCATTCCTTATTGTCTCTCAAGCTTATTTTACTTCTCTCTCAAGGTCTTACAAATATCATGTAAGCATGTACATAAGAGAGTCCATTTTGTGGTAACTGATATTTTTAAAAGTAGGGAATGATGAAGTAAGTGCTTAGGATGATGCCAGTTATCTTATCATTGTAATTTTATTTCTTTATCAAGGTATATAACTTATCCCAAAATGTC... |
Task1_train_19765 | Given this context: Chromosome 14, gene ATL1 (atlastin GTPase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hereditary spastic paraplegia 3A | ACAGAACCAATTATCTACTTTTTTGCTTAAACTTGTTGGAATTGGATTTCATTACTTACAACTGAAAGAAGTCCACCAACTTCTAGTGTTATAATAGGGGAAGTTCAGGATGATATGGGAACACATAGAAATAGTACATATATAAATTGTCTTGTAATTTCCATATGCATTTGTAGTATCTTTCAATGTTTATTACATTTTAAACATATTTACTCAAACTGCTTTTGGTTTTATTTCAAAGTTATGACATGTAAAACGTAGAAGGAAGGGAGGAGTGGTAAGAGGAAATCTGAGAATGCTGATTTTCTTATGGCAGGGAA... | ACAGAACCAATTATCTACTTTTTTGCTTAAACTTGTTGGAATTGGATTTCATTACTTACAACTGAAAGAAGTCCACCAACTTCTAGTGTTATAATAGGGGAAGTTCAGGATGATATGGGAACACATAGAAATAGTACATATATAAATTGTCTTGTAATTTCCATATGCATTTGTAGTATCTTTCAATGTTTATTACATTTTAAACATATTTACTCAAACTGCTTTTGGTTTTATTTCAAAGTTATGACATGTAAAACGTAGAAGGAAGGGAGGAGTGGTAAGAGGAAATCTGAGAATGCTGATTTTCTTATGGCAGGGAA... |
Task1_train_19766 | A mutation in ATL1 (atlastin GTPase 1), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hereditary spastic paraplegia 3A | AGAAGTCCACCAACTTCTAGTGTTATAATAGGGGAAGTTCAGGATGATATGGGAACACATAGAAATAGTACATATATAAATTGTCTTGTAATTTCCATATGCATTTGTAGTATCTTTCAATGTTTATTACATTTTAAACATATTTACTCAAACTGCTTTTGGTTTTATTTCAAAGTTATGACATGTAAAACGTAGAAGGAAGGGAGGAGTGGTAAGAGGAAATCTGAGAATGCTGATTTTCTTATGGCAGGGAATTAAAGGTGAAACATATATTTAAAAAGCATGACTCCAAACCAATAAGTAAAGACAAAAGACCTGAT... | AGAAGTCCACCAACTTCTAGTGTTATAATAGGGGAAGTTCAGGATGATATGGGAACACATAGAAATAGTACATATATAAATTGTCTTGTAATTTCCATATGCATTTGTAGTATCTTTCAATGTTTATTACATTTTAAACATATTTACTCAAACTGCTTTTGGTTTTATTTCAAAGTTATGACATGTAAAACGTAGAAGGAAGGGAGGAGTGGTAAGAGGAAATCTGAGAATGCTGATTTTCTTATGGCAGGGAATTAAAGGTGAAACATATATTTAAAAAGCATGACTCCAAACCAATAAGTAAAGACAAAAGACCTGAT... |
Task1_train_19767 | Here is a genetic alteration in ATL1 (atlastin GTPase 1) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hereditary spastic paraplegia 3A | GTGAAAATTCATTAAGTTATATACTTAATGTGCAGTTTTCTGTATGTGGACTATATTCCATTCAAAGGTATAAAAAGTTAAACACATGACTCCCAGCTCAATGTTTTCCAAAATCTTTGTTCTTAATTTCAAGTGAATTTATTAGAACTTCTAATGGTAAAAAAATCATTTACTTGAAATTCAGCAGTATTTTAAATGTCATCTCATCTTCCTTTTAGTCAGTTAATTTCAAGTGCATTTTAATACTTTTTATTTAAAATGCCACATACAAAACAGTTCTACTTTTTATAAAACTGTTTTTCTCCTTTTTCTTTCTTTTA... | GTGAAAATTCATTAAGTTATATACTTAATGTGCAGTTTTCTGTATGTGGACTATATTCCATTCAAAGGTATAAAAAGTTAAACACATGACTCCCAGCTCAATGTTTTCCAAAATCTTTGTTCTTAATTTCAAGTGAATTTATTAGAACTTCTAATGGTAAAAAAATCATTTACTTGAAATTCAGCAGTATTTTAAATGTCATCTCATCTTCCTTTTAGTCAGTTAATTTCAAGTGCATTTTAATACTTTTTATTTAAAATGCCACATACAAAACAGTTCTACTTTTTATAAAACTGTTTTTCTCCTTTTTCTTTCTTTTA... |
Task1_train_19768 | Assess the clinical impact of this variant on gene ATL1 (atlastin GTPase 1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 3A | TTAATGTGCAGTTTTCTGTATGTGGACTATATTCCATTCAAAGGTATAAAAAGTTAAACACATGACTCCCAGCTCAATGTTTTCCAAAATCTTTGTTCTTAATTTCAAGTGAATTTATTAGAACTTCTAATGGTAAAAAAATCATTTACTTGAAATTCAGCAGTATTTTAAATGTCATCTCATCTTCCTTTTAGTCAGTTAATTTCAAGTGCATTTTAATACTTTTTATTTAAAATGCCACATACAAAACAGTTCTACTTTTTATAAAACTGTTTTTCTCCTTTTTCTTTCTTTTAGCCCTCTTCCATTTGTGTATGTAC... | TTAATGTGCAGTTTTCTGTATGTGGACTATATTCCATTCAAAGGTATAAAAAGTTAAACACATGACTCCCAGCTCAATGTTTTCCAAAATCTTTGTTCTTAATTTCAAGTGAATTTATTAGAACTTCTAATGGTAAAAAAATCATTTACTTGAAATTCAGCAGTATTTTAAATGTCATCTCATCTTCCTTTTAGTCAGTTAATTTCAAGTGCATTTTAATACTTTTTATTTAAAATGCCACATACAAAACAGTTCTACTTTTTATAAAACTGTTTTTCTCCTTTTTCTTTCTTTTAGCCCTCTTCCATTTGTGTATGTAC... |
Task1_train_19769 | Here is a mutation in ATL1 (atlastin GTPase 1) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary spastic paraplegia 3A | TTAATGTGCAGTTTTCTGTATGTGGACTATATTCCATTCAAAGGTATAAAAAGTTAAACACATGACTCCCAGCTCAATGTTTTCCAAAATCTTTGTTCTTAATTTCAAGTGAATTTATTAGAACTTCTAATGGTAAAAAAATCATTTACTTGAAATTCAGCAGTATTTTAAATGTCATCTCATCTTCCTTTTAGTCAGTTAATTTCAAGTGCATTTTAATACTTTTTATTTAAAATGCCACATACAAAACAGTTCTACTTTTTATAAAACTGTTTTTCTCCTTTTTCTTTCTTTTAGCCCTCTTCCATTTGTGTATGTAC... | TTAATGTGCAGTTTTCTGTATGTGGACTATATTCCATTCAAAGGTATAAAAAGTTAAACACATGACTCCCAGCTCAATGTTTTCCAAAATCTTTGTTCTTAATTTCAAGTGAATTTATTAGAACTTCTAATGGTAAAAAAATCATTTACTTGAAATTCAGCAGTATTTTAAATGTCATCTCATCTTCCTTTTAGTCAGTTAATTTCAAGTGCATTTTAATACTTTTTATTTAAAATGCCACATACAAAACAGTTCTACTTTTTATAAAACTGTTTTTCTCCTTTTTCTTTCTTTTAGCCCTCTTCCATTTGTGTATGTAC... |
Task1_train_19770 | The gene ATL1 (atlastin GTPase 1) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hereditary spastic paraplegia 3A | ATGTGCAGTTTTCTGTATGTGGACTATATTCCATTCAAAGGTATAAAAAGTTAAACACATGACTCCCAGCTCAATGTTTTCCAAAATCTTTGTTCTTAATTTCAAGTGAATTTATTAGAACTTCTAATGGTAAAAAAATCATTTACTTGAAATTCAGCAGTATTTTAAATGTCATCTCATCTTCCTTTTAGTCAGTTAATTTCAAGTGCATTTTAATACTTTTTATTTAAAATGCCACATACAAAACAGTTCTACTTTTTATAAAACTGTTTTTCTCCTTTTTCTTTCTTTTAGCCCTCTTCCATTTGTGTATGTACCTA... | ATGTGCAGTTTTCTGTATGTGGACTATATTCCATTCAAAGGTATAAAAAGTTAAACACATGACTCCCAGCTCAATGTTTTCCAAAATCTTTGTTCTTAATTTCAAGTGAATTTATTAGAACTTCTAATGGTAAAAAAATCATTTACTTGAAATTCAGCAGTATTTTAAATGTCATCTCATCTTCCTTTTAGTCAGTTAATTTCAAGTGCATTTTAATACTTTTTATTTAAAATGCCACATACAAAACAGTTCTACTTTTTATAAAACTGTTTTTCTCCTTTTTCTTTCTTTTAGCCCTCTTCCATTTGTGTATGTACCTA... |
Task1_train_19771 | A variant found in Chromosome 14 affects ATL1 (atlastin GTPase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hereditary spastic paraplegia 3A | TACTCTCTGCACCAAGAGCCAATATGAAGTGGAATTATTTTAAATTTGCATTTACCTGTTTACCTTCCTTAGATAGCACTGAATACTTTTTACCAGCACTGAATACTTTTTACCAACCCGTATATATCCTGGAGAATTTCAGTTACCAACCCAATTGTGGACTGATGCTCCAAGGACTAAAATATCAATTTTTAAAATTCATGTTTTGTCATTTAATATGCTATCATATAGGTTCTGTGTGATCTGTTTACCTTCATGATTGTCAGCAATAAATGCCATGTTATTAATCTAAAATATGAATTTTTACTGCGTGTAACACT... | TACTCTCTGCACCAAGAGCCAATATGAAGTGGAATTATTTTAAATTTGCATTTACCTGTTTACCTTCCTTAGATAGCACTGAATACTTTTTACCAGCACTGAATACTTTTTACCAACCCGTATATATCCTGGAGAATTTCAGTTACCAACCCAATTGTGGACTGATGCTCCAAGGACTAAAATATCAATTTTTAAAATTCATGTTTTGTCATTTAATATGCTATCATATAGGTTCTGTGTGATCTGTTTACCTTCATGATTGTCAGCAATAAATGCCATGTTATTAATCTAAAATATGAATTTTTACTGCGTGTAACACT... |
Task1_train_19772 | A variant has been detected on Chromosome 14 in ATL1 (atlastin GTPase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Osteomyelitis leading to amputation due to slow healing fractures | GCCAATATGAAGTGGAATTATTTTAAATTTGCATTTACCTGTTTACCTTCCTTAGATAGCACTGAATACTTTTTACCAGCACTGAATACTTTTTACCAACCCGTATATATCCTGGAGAATTTCAGTTACCAACCCAATTGTGGACTGATGCTCCAAGGACTAAAATATCAATTTTTAAAATTCATGTTTTGTCATTTAATATGCTATCATATAGGTTCTGTGTGATCTGTTTACCTTCATGATTGTCAGCAATAAATGCCATGTTATTAATCTAAAATATGAATTTTTACTGCGTGTAACACTGTGGAGGTGCTTACAAT... | GCCAATATGAAGTGGAATTATTTTAAATTTGCATTTACCTGTTTACCTTCCTTAGATAGCACTGAATACTTTTTACCAGCACTGAATACTTTTTACCAACCCGTATATATCCTGGAGAATTTCAGTTACCAACCCAATTGTGGACTGATGCTCCAAGGACTAAAATATCAATTTTTAAAATTCATGTTTTGTCATTTAATATGCTATCATATAGGTTCTGTGTGATCTGTTTACCTTCATGATTGTCAGCAATAAATGCCATGTTATTAATCTAAAATATGAATTTTTACTGCGTGTAACACTGTGGAGGTGCTTACAAT... |
Task1_train_19773 | Here is a genetic alteration in ATL1 (atlastin GTPase 1) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Penetrating foot ulcers | GCCAATATGAAGTGGAATTATTTTAAATTTGCATTTACCTGTTTACCTTCCTTAGATAGCACTGAATACTTTTTACCAGCACTGAATACTTTTTACCAACCCGTATATATCCTGGAGAATTTCAGTTACCAACCCAATTGTGGACTGATGCTCCAAGGACTAAAATATCAATTTTTAAAATTCATGTTTTGTCATTTAATATGCTATCATATAGGTTCTGTGTGATCTGTTTACCTTCATGATTGTCAGCAATAAATGCCATGTTATTAATCTAAAATATGAATTTTTACTGCGTGTAACACTGTGGAGGTGCTTACAAT... | GCCAATATGAAGTGGAATTATTTTAAATTTGCATTTACCTGTTTACCTTCCTTAGATAGCACTGAATACTTTTTACCAGCACTGAATACTTTTTACCAACCCGTATATATCCTGGAGAATTTCAGTTACCAACCCAATTGTGGACTGATGCTCCAAGGACTAAAATATCAATTTTTAAAATTCATGTTTTGTCATTTAATATGCTATCATATAGGTTCTGTGTGATCTGTTTACCTTCATGATTGTCAGCAATAAATGCCATGTTATTAATCTAAAATATGAATTTTTACTGCGTGTAACACTGTGGAGGTGCTTACAAT... |
Task1_train_19774 | Here is a mutation in ATL1 (atlastin GTPase 1) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Distal sensory impairment | GCCAATATGAAGTGGAATTATTTTAAATTTGCATTTACCTGTTTACCTTCCTTAGATAGCACTGAATACTTTTTACCAGCACTGAATACTTTTTACCAACCCGTATATATCCTGGAGAATTTCAGTTACCAACCCAATTGTGGACTGATGCTCCAAGGACTAAAATATCAATTTTTAAAATTCATGTTTTGTCATTTAATATGCTATCATATAGGTTCTGTGTGATCTGTTTACCTTCATGATTGTCAGCAATAAATGCCATGTTATTAATCTAAAATATGAATTTTTACTGCGTGTAACACTGTGGAGGTGCTTACAAT... | GCCAATATGAAGTGGAATTATTTTAAATTTGCATTTACCTGTTTACCTTCCTTAGATAGCACTGAATACTTTTTACCAGCACTGAATACTTTTTACCAACCCGTATATATCCTGGAGAATTTCAGTTACCAACCCAATTGTGGACTGATGCTCCAAGGACTAAAATATCAATTTTTAAAATTCATGTTTTGTCATTTAATATGCTATCATATAGGTTCTGTGTGATCTGTTTACCTTCATGATTGTCAGCAATAAATGCCATGTTATTAATCTAAAATATGAATTTTTACTGCGTGTAACACTGTGGAGGTGCTTACAAT... |
Task1_train_19775 | Here is a genetic alteration in ATL1 (atlastin GTPase 1) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Distal lower limb muscle weakness | GCCAATATGAAGTGGAATTATTTTAAATTTGCATTTACCTGTTTACCTTCCTTAGATAGCACTGAATACTTTTTACCAGCACTGAATACTTTTTACCAACCCGTATATATCCTGGAGAATTTCAGTTACCAACCCAATTGTGGACTGATGCTCCAAGGACTAAAATATCAATTTTTAAAATTCATGTTTTGTCATTTAATATGCTATCATATAGGTTCTGTGTGATCTGTTTACCTTCATGATTGTCAGCAATAAATGCCATGTTATTAATCTAAAATATGAATTTTTACTGCGTGTAACACTGTGGAGGTGCTTACAAT... | GCCAATATGAAGTGGAATTATTTTAAATTTGCATTTACCTGTTTACCTTCCTTAGATAGCACTGAATACTTTTTACCAGCACTGAATACTTTTTACCAACCCGTATATATCCTGGAGAATTTCAGTTACCAACCCAATTGTGGACTGATGCTCCAAGGACTAAAATATCAATTTTTAAAATTCATGTTTTGTCATTTAATATGCTATCATATAGGTTCTGTGTGATCTGTTTACCTTCATGATTGTCAGCAATAAATGCCATGTTATTAATCTAAAATATGAATTTTTACTGCGTGTAACACTGTGGAGGTGCTTACAAT... |
Task1_train_19776 | This is a variant in ATL1 (atlastin GTPase 1), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary spastic paraplegia 3A | GCCAATATGAAGTGGAATTATTTTAAATTTGCATTTACCTGTTTACCTTCCTTAGATAGCACTGAATACTTTTTACCAGCACTGAATACTTTTTACCAACCCGTATATATCCTGGAGAATTTCAGTTACCAACCCAATTGTGGACTGATGCTCCAAGGACTAAAATATCAATTTTTAAAATTCATGTTTTGTCATTTAATATGCTATCATATAGGTTCTGTGTGATCTGTTTACCTTCATGATTGTCAGCAATAAATGCCATGTTATTAATCTAAAATATGAATTTTTACTGCGTGTAACACTGTGGAGGTGCTTACAAT... | GCCAATATGAAGTGGAATTATTTTAAATTTGCATTTACCTGTTTACCTTCCTTAGATAGCACTGAATACTTTTTACCAGCACTGAATACTTTTTACCAACCCGTATATATCCTGGAGAATTTCAGTTACCAACCCAATTGTGGACTGATGCTCCAAGGACTAAAATATCAATTTTTAAAATTCATGTTTTGTCATTTAATATGCTATCATATAGGTTCTGTGTGATCTGTTTACCTTCATGATTGTCAGCAATAAATGCCATGTTATTAATCTAAAATATGAATTTTTACTGCGTGTAACACTGTGGAGGTGCTTACAAT... |
Task1_train_19777 | A genomic change on Chromosome 14 affects ATL1 (atlastin GTPase 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary spastic paraplegia 3A | TATTCATCAAAGAGCGCTGATGGAGATGTATTTAAGGAAATTAATGTTTTCATGCCTGCTAACACAATATCCATTCTACAGCCCAGGATCAAGGAGTAATTTTGACTTTCAAAAGTTAATAAGAAATACATTTTGTAAGGCTATAGCTGCCATAGATAGTGATTCTTTTGATGGATCTGGGCAAAGTACATTGAAAACCTTCCAGGAGAAATTCACCATTCTGGATGCCATGAAGAGAATCTGTGGTTTATAGGAGGCAAAAATATCAACAAGAATGTGGAAAAAGTTGATACCAACCCTTCTGGATGACTTTGAGAGGG... | TATTCATCAAAGAGCGCTGATGGAGATGTATTTAAGGAAATTAATGTTTTCATGCCTGCTAACACAATATCCATTCTACAGCCCAGGATCAAGGAGTAATTTTGACTTTCAAAAGTTAATAAGAAATACATTTTGTAAGGCTATAGCTGCCATAGATAGTGATTCTTTTGATGGATCTGGGCAAAGTACATTGAAAACCTTCCAGGAGAAATTCACCATTCTGGATGCCATGAAGAGAATCTGTGGTTTATAGGAGGCAAAAATATCAACAAGAATGTGGAAAAAGTTGATACCAACCCTTCTGGATGACTTTGAGAGGG... |
Task1_train_19778 | This sequence variant lies in ATL1 (atlastin GTPase 1) on Chromosome 14. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary spastic paraplegia 3A | ATTCATCAAAGAGCGCTGATGGAGATGTATTTAAGGAAATTAATGTTTTCATGCCTGCTAACACAATATCCATTCTACAGCCCAGGATCAAGGAGTAATTTTGACTTTCAAAAGTTAATAAGAAATACATTTTGTAAGGCTATAGCTGCCATAGATAGTGATTCTTTTGATGGATCTGGGCAAAGTACATTGAAAACCTTCCAGGAGAAATTCACCATTCTGGATGCCATGAAGAGAATCTGTGGTTTATAGGAGGCAAAAATATCAACAAGAATGTGGAAAAAGTTGATACCAACCCTTCTGGATGACTTTGAGAGGGG... | ATTCATCAAAGAGCGCTGATGGAGATGTATTTAAGGAAATTAATGTTTTCATGCCTGCTAACACAATATCCATTCTACAGCCCAGGATCAAGGAGTAATTTTGACTTTCAAAAGTTAATAAGAAATACATTTTGTAAGGCTATAGCTGCCATAGATAGTGATTCTTTTGATGGATCTGGGCAAAGTACATTGAAAACCTTCCAGGAGAAATTCACCATTCTGGATGCCATGAAGAGAATCTGTGGTTTATAGGAGGCAAAAATATCAACAAGAATGTGGAAAAAGTTGATACCAACCCTTCTGGATGACTTTGAGAGGGG... |
Task1_train_19779 | Here is a mutation in ATL1 (atlastin GTPase 1) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary spastic paraplegia 3A | TCCAAGACTTCAGTGGAGGAAGGAAGTGCATGTGTGGTGCAAACAGCAAGAGAACTTAAAAGTGGAGCCTGAAGATGTGACTCAATTTTGTATTCTCTTAACGGATAAGGAGTTGCTTCCTATGGATAAGCAAAGACAGTGGTTTCTGGAGATGGAATCTACTCCTAGCGAAGATGCTGTGAACAGTGTTGAAATGACAACAAAGGGTTTAGAATATTTTTTATTGGTACATAATAGATGTACATATTTTTGGAGTACATATGATAAATTGATACATCCATATAATGTGTAAAGATCAAATCAGGGAAAGTGTGGTATTT... | TCCAAGACTTCAGTGGAGGAAGGAAGTGCATGTGTGGTGCAAACAGCAAGAGAACTTAAAAGTGGAGCCTGAAGATGTGACTCAATTTTGTATTCTCTTAACGGATAAGGAGTTGCTTCCTATGGATAAGCAAAGACAGTGGTTTCTGGAGATGGAATCTACTCCTAGCGAAGATGCTGTGAACAGTGTTGAAATGACAACAAAGGGTTTAGAATATTTTTTATTGGTACATAATAGATGTACATATTTTTGGAGTACATATGATAAATTGATACATCCATATAATGTGTAAAGATCAAATCAGGGAAAGTGTGGTATTT... |
Task1_train_19780 | A mutation in PYGL (glycogen phosphorylase L), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Glycogen storage disease, type VI | TGAAGGTTGCAGTGAGTCAGGATCACGCCGCTGCACTCCCGTCTGAGTGACAGAGCGAGATCTGTCTCAAAAAAAAAAAAAAAAAAAAATTACAACTCCTGCTGAAATGTCAAATCTCAACCTTGGCCTGAACTTGGGAAAAGACAAGGTTTTTTTTTTTGTTGTGGTTGTTTGTTTGTTTTTGTTGTTTTTTTTTTGATTGCTTAATGGGGATCTGATATTACATGGGGATCTGATATTTGCATTTAATTAAAAAACCCACATTTTAATGAATCATAGTAAACTGGTTTTCTTTATAAATCTTGGCAATTTACTCACCA... | TGAAGGTTGCAGTGAGTCAGGATCACGCCGCTGCACTCCCGTCTGAGTGACAGAGCGAGATCTGTCTCAAAAAAAAAAAAAAAAAAAAATTACAACTCCTGCTGAAATGTCAAATCTCAACCTTGGCCTGAACTTGGGAAAAGACAAGGTTTTTTTTTTTGTTGTGGTTGTTTGTTTGTTTTTGTTGTTTTTTTTTTGATTGCTTAATGGGGATCTGATATTACATGGGGATCTGATATTTGCATTTAATTAAAAAACCCACATTTTAATGAATCATAGTAAACTGGTTTTCTTTATAAATCTTGGCAATTTACTCACCA... |
Task1_train_19781 | This variant lies on Chromosome 14 and affects the gene PYGL (glycogen phosphorylase L). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not specified | TCTCAGCACTTTGAGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTCATCCCAGCTGCTTGGGAGGCTGAGGCGGGATAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATAAACAAAAACTACAGGATAAACTCTCACAGTGAGTGCCCAGGAGGGGACCCACACCTGG... | TCTCAGCACTTTGAGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTCATCCCAGCTGCTTGGGAGGCTGAGGCGGGATAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATAAACAAAAACTACAGGATAAACTCTCACAGTGAGTGCCCAGGAGGGGACCCACACCTGG... |
Task1_train_19782 | The variant affects gene PYGL (glycogen phosphorylase L), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Glycogen storage disease, type VI | TCTCAGCACTTTGAGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTCATCCCAGCTGCTTGGGAGGCTGAGGCGGGATAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATAAACAAAAACTACAGGATAAACTCTCACAGTGAGTGCCCAGGAGGGGACCCACACCTGG... | TCTCAGCACTTTGAGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTCATCCCAGCTGCTTGGGAGGCTGAGGCGGGATAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATAAACAAAAACTACAGGATAAACTCTCACAGTGAGTGCCCAGGAGGGGACCCACACCTGG... |
Task1_train_19783 | A variant has been detected on Chromosome 14 in PYGL (glycogen phosphorylase L). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Glycogen storage disease, type VI | TAGTTTCAGCAGTTTTTAAAAATTATTTTTATTTATTTATTTTTATTTATTTATTCATTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGGCTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGAATGGTCTCGATCTCCTGACCTTGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGG... | TAGTTTCAGCAGTTTTTAAAAATTATTTTTATTTATTTATTTTTATTTATTTATTCATTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGGCTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGAATGGTCTCGATCTCCTGACCTTGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGG... |
Task1_train_19784 | A mutation found in PYGL (glycogen phosphorylase L) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Glycogen storage disease, type VI | GTGGTGGGGGTGGGTCTCATGTTGCCCAGGCTAGTTTCAAACTCCTGGCCTCAAGTGAGTCTCCTGCCTAGGCTTCTCAAAGCACTGGATTACATGCATGAGCCATCACACCCGGCCAGCTTCACTGGTATTAAAGTGTTAAAAACAGGAAATCTACTTATAAGAGTGACCAGGAACCCAGGTTCTGTTAGTTATTTATATGAGCTTTATTATCCTCTTTTACTAGAGAAAACCATCTTCTATGTGAGTGTCCTATGAATACTGTTAGCTGCAACTAGCTACATAATTTGCAGGACCTTTTGTTCAAAAATTAAGAATTT... | GTGGTGGGGGTGGGTCTCATGTTGCCCAGGCTAGTTTCAAACTCCTGGCCTCAAGTGAGTCTCCTGCCTAGGCTTCTCAAAGCACTGGATTACATGCATGAGCCATCACACCCGGCCAGCTTCACTGGTATTAAAGTGTTAAAAACAGGAAATCTACTTATAAGAGTGACCAGGAACCCAGGTTCTGTTAGTTATTTATATGAGCTTTATTATCCTCTTTTACTAGAGAAAACCATCTTCTATGTGAGTGTCCTATGAATACTGTTAGCTGCAACTAGCTACATAATTTGCAGGACCTTTTGTTCAAAAATTAAGAATTT... |
Task1_train_19785 | This is a variant in PYGL (glycogen phosphorylase L), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Glycogen storage disease, type VI | GCCTCCTTTCCTCTCAGCACTTCCCAGTTACCTCTGCTATGAGCTCTGCAAGTCCTGGGTTGCAGAGTAGGAGCCAGCGCCTTGGAGTGATCCCATTGGTTTTATTCTGAAACTTGTCAGGTTCTAGCTCACTGAAGTCCTTGAATCTGGAGATGGAGGAGACACATCACTGAATTTGGCTGAAACGGCAAAGGGTCCTGCACACTGGACAAAGTTCGGAGTTATATTCAAGAAGCCAAGTGCAGGCTTAGAAAGGTTAAATAAAGGTGGAGGGACAGGCTGACAGTAGCTATGGCTGTCATTTAAATAGAAATTCATTT... | GCCTCCTTTCCTCTCAGCACTTCCCAGTTACCTCTGCTATGAGCTCTGCAAGTCCTGGGTTGCAGAGTAGGAGCCAGCGCCTTGGAGTGATCCCATTGGTTTTATTCTGAAACTTGTCAGGTTCTAGCTCACTGAAGTCCTTGAATCTGGAGATGGAGGAGACACATCACTGAATTTGGCTGAAACGGCAAAGGGTCCTGCACACTGGACAAAGTTCGGAGTTATATTCAAGAAGCCAAGTGCAGGCTTAGAAAGGTTAAATAAAGGTGGAGGGACAGGCTGACAGTAGCTATGGCTGTCATTTAAATAGAAATTCATTT... |
Task1_train_19786 | The gene PYGL (glycogen phosphorylase L) on Chromosome 14 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Glycogen storage disease, type VI | GAATTTGTTATTGTAATTACAGTATAAAAGGATTTTTCAGCTTACTCTTAAAAACAAACAAACAAACAAACAAACAAAAACATGATCCTGAGAACTCCCTTTTACCCAACAAATCTAGTCAATTTTTTACCCCATGCTAACTTAGTATATATTGTCAGTTACTGCAGACGATTATTTCCCAGTAAAATTAGTTTTGGTCCTTACTGAAGACAGGAGGATGAATTTCAAGCCCCTGCAGACTGGGTTTAGGTTGGCAGTACGGTCCCAGACTTGGAAGAACTCTTACTTTGACCCTGACATAGAATAACTTTTTGCTTTTG... | GAATTTGTTATTGTAATTACAGTATAAAAGGATTTTTCAGCTTACTCTTAAAAACAAACAAACAAACAAACAAACAAAAACATGATCCTGAGAACTCCCTTTTACCCAACAAATCTAGTCAATTTTTTACCCCATGCTAACTTAGTATATATTGTCAGTTACTGCAGACGATTATTTCCCAGTAAAATTAGTTTTGGTCCTTACTGAAGACAGGAGGATGAATTTCAAGCCCCTGCAGACTGGGTTTAGGTTGGCAGTACGGTCCCAGACTTGGAAGAACTCTTACTTTGACCCTGACATAGAATAACTTTTTGCTTTTG... |
Task1_train_19787 | A mutation found in PYGL (glycogen phosphorylase L) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Glycogen storage disease, type VI | GGAGAGCCCAGTGAAGAAACTGGCCGGAGAACCAGGAAAACCATAAAGCACTGCATAAGCCACTGAAGGAAAAACATACAAGATTCTCTGGTGCTCTATGATGCTAAATGCTACAGAGGCGTGAGTGTGTGTTTCTAATATATGCTCAGTGTCCCACCCTTCCGCTTAAAATTGTTAAAAATAATTTTTAATGAGAGGCGCAGTATGGTGTACTTAGTAGCATTCCCTTTGTGTAAATAAATTTTTAAAAGATAGTGGCCGAGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCAT... | GGAGAGCCCAGTGAAGAAACTGGCCGGAGAACCAGGAAAACCATAAAGCACTGCATAAGCCACTGAAGGAAAAACATACAAGATTCTCTGGTGCTCTATGATGCTAAATGCTACAGAGGCGTGAGTGTGTGTTTCTAATATATGCTCAGTGTCCCACCCTTCCGCTTAAAATTGTTAAAAATAATTTTTAATGAGAGGCGCAGTATGGTGTACTTAGTAGCATTCCCTTTGTGTAAATAAATTTTTAAAAGATAGTGGCCGAGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCAT... |
Task1_train_19788 | Assess the clinical impact of this variant on gene GNPNAT1 (glucosamine-phosphate N-acetyltransferase 1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Rhizomelic dysplasia, Ain-Naz type | TGTTAATTCCTTAAAACTCAGAAGAGTTAGTGTTAAAAAGCAAGTTCTTGGGCCAGGCACAGTGGCTCCCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGCACTGTTTGAGACCAGCCTGAGCAACATGATGAGGCCCCATCTCTACAAATTTTTAAAAATTAGCCAGGTGTGGCGTGTACCTGTAGTCCCAGCTAATTGGGGGGCTGAAGAGGATTGCTTGAGCCCAGGAGGCTGAGGCTGCAGTGAGCTGAGATTGAGCCACTGCACCTCAGCCTGGGTGACAGAGCTGTCAAAAACAGACCCTGTCTCA... | TGTTAATTCCTTAAAACTCAGAAGAGTTAGTGTTAAAAAGCAAGTTCTTGGGCCAGGCACAGTGGCTCCCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGCACTGTTTGAGACCAGCCTGAGCAACATGATGAGGCCCCATCTCTACAAATTTTTAAAAATTAGCCAGGTGTGGCGTGTACCTGTAGTCCCAGCTAATTGGGGGGCTGAAGAGGATTGCTTGAGCCCAGGAGGCTGAGGCTGCAGTGAGCTGAGATTGAGCCACTGCACCTCAGCCTGGGTGACAGAGCTGTCAAAAACAGACCCTGTCTCA... |
Task1_train_19789 | With a mutation on Chromosome 14 in gene DDHD1 (DDHD domain containing 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary spastic paraplegia 28 | GATAATAGCATCAATAATACTGTGCCATATAACCTGAGGACTGGGGAACTGACTTGTCTATTCTTTTCTTTGTACAACCAGAAATGGCAGTGTCCAACATATAGTATATGTTGAATAAATATTTATTTTGAAAGAACAATAAACTTTCATTTGAATCCTAAAGGCATATTTCACATGACGTTAAAAAAAATACTGAGATCAATGTTGAAGAACACATTGCTCTTTCCTTACCTTAAATTTTAAGGCAGGTGTTTGTGTCATAGATGATGCTTTCAATCCGTGAAGCCGTTCTTCTATTTCCTTCAGCCTAAGAAGGGGTA... | GATAATAGCATCAATAATACTGTGCCATATAACCTGAGGACTGGGGAACTGACTTGTCTATTCTTTTCTTTGTACAACCAGAAATGGCAGTGTCCAACATATAGTATATGTTGAATAAATATTTATTTTGAAAGAACAATAAACTTTCATTTGAATCCTAAAGGCATATTTCACATGACGTTAAAAAAAATACTGAGATCAATGTTGAAGAACACATTGCTCTTTCCTTACCTTAAATTTTAAGGCAGGTGTTTGTGTCATAGATGATGCTTTCAATCCGTGAAGCCGTTCTTCTATTTCCTTCAGCCTAAGAAGGGGTA... |
Task1_train_19790 | The following genetic variant occurs in BMP4 (bone morphogenetic protein 4) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Orofacial cleft 11 | ACTCCACTCCCAGGAGCGTATGTAAGAAAGTGTGTACAAGAATGCAAGGGTGCACACCCCACCTAGAAAAATGCAAACGCCAGGAGTGTGCACCACACACATTCTTTGGGTGCACACACCACCAGCAACAGCAATACTACCGCTCATATCTACACCTTCATGATGGAGAAATGCGCTATCAGCCTTCCCCACAGAGAACATACAAAGACACTAAATGTTTCTGCTCCAAAGGGATCCAAAGGGATCTTGGTCTGTGCTGGCTCACTTCATATGTGTGAATTTTCTCAGCACACATATGAAATGAGCCAGCACAGACCAAG... | ACTCCACTCCCAGGAGCGTATGTAAGAAAGTGTGTACAAGAATGCAAGGGTGCACACCCCACCTAGAAAAATGCAAACGCCAGGAGTGTGCACCACACACATTCTTTGGGTGCACACACCACCAGCAACAGCAATACTACCGCTCATATCTACACCTTCATGATGGAGAAATGCGCTATCAGCCTTCCCCACAGAGAACATACAAAGACACTAAATGTTTCTGCTCCAAAGGGATCCAAAGGGATCTTGGTCTGTGCTGGCTCACTTCATATGTGTGAATTTTCTCAGCACACATATGAAATGAGCCAGCACAGACCAAG... |
Task1_train_19791 | This variant affects the gene BMP4 (bone morphogenetic protein 4) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Microphthalmia with brain and digit anomalies | ACTCCACTCCCAGGAGCGTATGTAAGAAAGTGTGTACAAGAATGCAAGGGTGCACACCCCACCTAGAAAAATGCAAACGCCAGGAGTGTGCACCACACACATTCTTTGGGTGCACACACCACCAGCAACAGCAATACTACCGCTCATATCTACACCTTCATGATGGAGAAATGCGCTATCAGCCTTCCCCACAGAGAACATACAAAGACACTAAATGTTTCTGCTCCAAAGGGATCCAAAGGGATCTTGGTCTGTGCTGGCTCACTTCATATGTGTGAATTTTCTCAGCACACATATGAAATGAGCCAGCACAGACCAAG... | ACTCCACTCCCAGGAGCGTATGTAAGAAAGTGTGTACAAGAATGCAAGGGTGCACACCCCACCTAGAAAAATGCAAACGCCAGGAGTGTGCACCACACACATTCTTTGGGTGCACACACCACCAGCAACAGCAATACTACCGCTCATATCTACACCTTCATGATGGAGAAATGCGCTATCAGCCTTCCCCACAGAGAACATACAAAGACACTAAATGTTTCTGCTCCAAAGGGATCCAAAGGGATCTTGGTCTGTGCTGGCTCACTTCATATGTGTGAATTTTCTCAGCACACATATGAAATGAGCCAGCACAGACCAAG... |
Task1_train_19792 | An alteration has been detected in BMP4 (bone morphogenetic protein 4) on Chromosome 14. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | TTTTTAAATAAAAGTCCAGCTATAAGGAAGCAGTCTGTGTAGTGTGTGGGTGAGTGGATGGGAACGTGTGTGTGTGGTGTATGTGGTGTGTGTGTGTGGTGTGTATATCTGTCTATCCTCAAGGACTGCCTGATCTCAGCGGCACCCACATCCCTCTACTACCATCTCCTGATAATTTTTCAGTACCACCTTATCATACTCATCCAGGTACAGCATGGAGATGGCACTCAGTTCAGTGGGCACACAACAGGCTTTGGGGATACTGGAATTGACAGAATTGACCAGGGTCTGCACAATGGCATGGTTGGTTGAGTTGAGGT... | TTTTTAAATAAAAGTCCAGCTATAAGGAAGCAGTCTGTGTAGTGTGTGGGTGAGTGGATGGGAACGTGTGTGTGTGGTGTATGTGGTGTGTGTGTGTGGTGTGTATATCTGTCTATCCTCAAGGACTGCCTGATCTCAGCGGCACCCACATCCCTCTACTACCATCTCCTGATAATTTTTCAGTACCACCTTATCATACTCATCCAGGTACAGCATGGAGATGGCACTCAGTTCAGTGGGCACACAACAGGCTTTGGGGATACTGGAATTGACAGAATTGACCAGGGTCTGCACAATGGCATGGTTGGTTGAGTTGAGGT... |
Task1_train_19793 | Given this variant in gene GCH1 (GTP cyclohydrolase 1) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; GTP cyclohydrolase I deficiency with hyperphenylalaninemia | AATTTAATTTTGAACAGTGTATTGAAATACATCAAATTCTTAAAAATCCCCCAAATGGACTCAAGATCATGGATATGAAAAGGTAATTTTGAAGTACTAAAGACTAGAGTAAAACAGACAAAGTCATTACTTTGCATTTACTAATAAGACAACAGCCTGTGGATACATTAGACCTTTATAAGAACACTTCTAGGAAATGTTAGAACAACGAGTCATTAAAAAGGAATATAAATGAGTTCATAAAGATAAATGTATAGCTGACAATTTCTTTGGTCCTCGAAGTCACACTTGTTTTTACTTTAAAATGCCAAACATGAGTT... | AATTTAATTTTGAACAGTGTATTGAAATACATCAAATTCTTAAAAATCCCCCAAATGGACTCAAGATCATGGATATGAAAAGGTAATTTTGAAGTACTAAAGACTAGAGTAAAACAGACAAAGTCATTACTTTGCATTTACTAATAAGACAACAGCCTGTGGATACATTAGACCTTTATAAGAACACTTCTAGGAAATGTTAGAACAACGAGTCATTAAAAAGGAATATAAATGAGTTCATAAAGATAAATGTATAGCTGACAATTTCTTTGGTCCTCGAAGTCACACTTGTTTTTACTTTAAAATGCCAAACATGAGTT... |
Task1_train_19794 | A variant has been detected on Chromosome 14 in GCH1 (GTP cyclohydrolase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Dystonia 5 | GGCCCCTCTGGTTATCTGGCAGTGGTTTTGTGCACGTACTTACACTATTAGCAGTTCACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCAGGAACTCTTCCCGAGTCTTTGG... | GGCCCCTCTGGTTATCTGGCAGTGGTTTTGTGCACGTACTTACACTATTAGCAGTTCACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCAGGAACTCTTCCCGAGTCTTTGG... |
Task1_train_19795 | Here is a genetic alteration in GCH1 (GTP cyclohydrolase 1) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; GTP cyclohydrolase I deficiency | GGCCCCTCTGGTTATCTGGCAGTGGTTTTGTGCACGTACTTACACTATTAGCAGTTCACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCAGGAACTCTTCCCGAGTCTTTGG... | GGCCCCTCTGGTTATCTGGCAGTGGTTTTGTGCACGTACTTACACTATTAGCAGTTCACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCAGGAACTCTTCCCGAGTCTTTGG... |
Task1_train_19796 | This is a variant in GCH1 (GTP cyclohydrolase 1), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Dystonia 5 | GGCCCCTCTGGTTATCTGGCAGTGGTTTTGTGCACGTACTTACACTATTAGCAGTTCACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCAGGAACTCTTCCCGAGTCTTTGG... | GGCCCCTCTGGTTATCTGGCAGTGGTTTTGTGCACGTACTTACACTATTAGCAGTTCACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCAGGAACTCTTCCCGAGTCTTTGG... |
Task1_train_19797 | This is a variant in GCH1 (GTP cyclohydrolase 1), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Dystonia 5 | CTCTGGTTATCTGGCAGTGGTTTTGTGCACGTACTTACACTATTAGCAGTTCACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCAGGAACTCTTCCCGAGTCTTTGGATCCT... | CTCTGGTTATCTGGCAGTGGTTTTGTGCACGTACTTACACTATTAGCAGTTCACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCAGGAACTCTTCCCGAGTCTTTGGATCCT... |
Task1_train_19798 | Assess the clinical impact of this variant on gene GCH1 (GTP cyclohydrolase 1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive | TATCTGGCAGTGGTTTTGTGCACGTACTTACACTATTAGCAGTTCACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCAGGAACTCTTCCCGAGTCTTTGGATCCTCCCGGAA... | TATCTGGCAGTGGTTTTGTGCACGTACTTACACTATTAGCAGTTCACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCAGGAACTCTTCCCGAGTCTTTGGATCCTCCCGGAA... |
Task1_train_19799 | Consider this mutation in GCH1 (GTP cyclohydrolase 1) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; GTP cyclohydrolase I deficiency | CACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCAGGAACTCTTCCCGAGTCTTTGGATCCTCCCGGAACACACCCAACATTGTGCTGGTCACAGTTTTGCTGTTCATTTTCT... | CACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCAGGAACTCTTCCCGAGTCTTTGGATCCTCCCGGAACACACCCAACATTGTGCTGGTCACAGTTTTGCTGTTCATTTTCT... |
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