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_1700 | This sequence variant lies in ASH1L (ASH1 like histone lysine methyltransferase) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Intellectual disability, autosomal dominant 52 | TTGCACATGACTGTAGTTAAGGCTGGGGTTTCAAAGCTAGTCAGTAAGCTATTGATTGAGCAAGCAAAACCAAATAAGTCTAGATGCGAGGAAAGACCTGGTGGTGGGCAGAGAATACAAAAGACGGTCTGGAAAATTAAAAAAAAAAAATAGGGAAAATAGGAACATATTGCTTTGTTTTCTGGTTAGCTTATTTTTCTTTCTTTTTATTTTTTGAGAGTCTTGTCCTGTTGCCAGGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAATCTCTGCCTCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGT... | TTGCACATGACTGTAGTTAAGGCTGGGGTTTCAAAGCTAGTCAGTAAGCTATTGATTGAGCAAGCAAAACCAAATAAGTCTAGATGCGAGGAAAGACCTGGTGGTGGGCAGAGAATACAAAAGACGGTCTGGAAAATTAAAAAAAAAAAATAGGGAAAATAGGAACATATTGCTTTGTTTTCTGGTTAGCTTATTTTTCTTTCTTTTTATTTTTTGAGAGTCTTGTCCTGTTGCCAGGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAATCTCTGCCTCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGT... |
Task1_train_1701 | A variant on Chromosome 1 in gene ASH1L (ASH1 like histone lysine methyltransferase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Intellectual disability, autosomal dominant 52 | GACAGCTGACTAGAGATCAAAGAAGCTACTTTTGGCCATGAGAACTATCCAGAACAGGAAATACTGATGTAAAATTCACTGATTCTTTTTTATTTTGCTGCACATGTGCATTGTTACTAAAACAACAAATTCTATATCCACTCCTTTGTCTATTAGACATTTCTATTTTGAAATTTCAGTGCCGTTTAAAATTATATACTCTCTTGGCCAGGTGTGGTGGCTCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAAGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACCGCACT... | GACAGCTGACTAGAGATCAAAGAAGCTACTTTTGGCCATGAGAACTATCCAGAACAGGAAATACTGATGTAAAATTCACTGATTCTTTTTTATTTTGCTGCACATGTGCATTGTTACTAAAACAACAAATTCTATATCCACTCCTTTGTCTATTAGACATTTCTATTTTGAAATTTCAGTGCCGTTTAAAATTATATACTCTCTTGGCCAGGTGTGGTGGCTCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAAGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACCGCACT... |
Task1_train_1702 | Here is a mutation in ASH1L (ASH1 like histone lysine methyltransferase) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Intellectual disability, autosomal dominant 52 | GGGAGGATACCTTCCATAGTAACCTAATCCTATGGGAGCAGCTGTAAGGGGTGAAGGAGAGTAAGGCATACCATAAGATGGATAGAATCCAGTACTAGAAAGAGGAAAACTAAGGCTGTGCATAAAAGGCATTTCAGCCATTGCCTCCCTCATCTTAGGGGGTCTCCCTCTTTTCTTTTTTAAGTCAGGTTTTCGAATGTAGTGCAAAGGGTCTAAGGGGAAAGAAGGATGTGTATAGAAACTATTAAAGTTGATTCGAAAGATAGTTGGCAGAAGATCTCGGGGGATAAAATGATGACTTCGATGAGTGATCCGAATTT... | GGGAGGATACCTTCCATAGTAACCTAATCCTATGGGAGCAGCTGTAAGGGGTGAAGGAGAGTAAGGCATACCATAAGATGGATAGAATCCAGTACTAGAAAGAGGAAAACTAAGGCTGTGCATAAAAGGCATTTCAGCCATTGCCTCCCTCATCTTAGGGGGTCTCCCTCTTTTCTTTTTTAAGTCAGGTTTTCGAATGTAGTGCAAAGGGTCTAAGGGGAAAGAAGGATGTGTATAGAAACTATTAAAGTTGATTCGAAAGATAGTTGGCAGAAGATCTCGGGGGATAAAATGATGACTTCGATGAGTGATCCGAATTT... |
Task1_train_1703 | Gene MSTO1 (misato mitochondrial distribution and morphology regulator 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TCTAGATTCTCCTAAGCCAAGGTTTTTCCCCCAACTAGTGTATATCCCAGAAAGCTTGGAAGAGCCAAGTGCTGGAGAGATGGTGACAGCAGGTTGTCAGGTGATCAGAGGAAGGTTAGCTAGAGGGGAAGGGTGCCCAGGCTTTGACCTAACATTGTCTCTGTTATTTCTGTACAGGTAGTTTGAGCTCCCTAAAAGAGGAAGGTGGACTCTACAGGGACAAACAGTTGGATGCTGCAATAGCATGGTGTGTAACTGATGTATGGATAAGGGTGGGGATCGTGTATGTACGCAGAACGCTGGATAACTCTGATCAGAGT... | TCTAGATTCTCCTAAGCCAAGGTTTTTCCCCCAACTAGTGTATATCCCAGAAAGCTTGGAAGAGCCAAGTGCTGGAGAGATGGTGACAGCAGGTTGTCAGGTGATCAGAGGAAGGTTAGCTAGAGGGGAAGGGTGCCCAGGCTTTGACCTAACATTGTCTCTGTTATTTCTGTACAGGTAGTTTGAGCTCCCTAAAAGAGGAAGGTGGACTCTACAGGGACAAACAGTTGGATGCTGCAATAGCATGGTGTGTAACTGATGTATGGATAAGGGTGGGGATCGTGTATGTACGCAGAACGCTGGATAACTCTGATCAGAGT... |
Task1_train_1704 | The gene MSTO1 (misato mitochondrial distribution and morphology regulator 1) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | TCTGTACAGGTAGTTTGAGCTCCCTAAAAGAGGAAGGTGGACTCTACAGGGACAAACAGTTGGATGCTGCAATAGCATGGTGTGTAACTGATGTATGGATAAGGGTGGGGATCGTGTATGTACGCAGAACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAG... | TCTGTACAGGTAGTTTGAGCTCCCTAAAAGAGGAAGGTGGACTCTACAGGGACAAACAGTTGGATGCTGCAATAGCATGGTGTGTAACTGATGTATGGATAAGGGTGGGGATCGTGTATGTACGCAGAACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAG... |
Task1_train_1705 | This sequence variant lies in RIT1 (Ras like without CAAX 1) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; RASopathy | CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAG... | CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAG... |
Task1_train_1706 | A genomic change on Chromosome 1 affects RIT1 (Ras like without CAAX 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cardiovascular phenotype | CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAG... | CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAG... |
Task1_train_1707 | This genomic variant is located on Chromosome 1, within the RIT1 (Ras like without CAAX 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Noonan syndrome and Noonan-related syndrome | CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAG... | CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAG... |
Task1_train_1708 | The following genetic variant occurs in RIT1 (Ras like without CAAX 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Noonan syndrome 8 | CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAG... | CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAG... |
Task1_train_1709 | A genomic change on Chromosome 1 affects RIT1 (Ras like without CAAX 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Noonan syndrome | CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAG... | CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAG... |
Task1_train_1710 | Gene RIT1 (Ras like without CAAX 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Inborn genetic diseases | GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCT... | GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCT... |
Task1_train_1711 | A genetic alteration is present in RIT1 (Ras like without CAAX 1) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Noonan syndrome 8 | GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCT... | GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCT... |
Task1_train_1712 | Gene RIT1 (Ras like without CAAX 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; RASopathy | GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCT... | GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCT... |
Task1_train_1713 | This genomic variant is located on Chromosome 1, within the RIT1 (Ras like without CAAX 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; RASopathy | TACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGA... | TACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGA... |
Task1_train_1714 | This variant lies on Chromosome 1 and affects the gene RIT1 (Ras like without CAAX 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Noonan syndrome and Noonan-related syndrome | TTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGC... | TTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGC... |
Task1_train_1715 | A mutation found in RIT1 (Ras like without CAAX 1) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Noonan syndrome 8 | TTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGC... | TTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGC... |
Task1_train_1716 | This variant lies on Chromosome 1 and affects the gene RIT1 (Ras like without CAAX 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Inborn genetic diseases | AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACT... | AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACT... |
Task1_train_1717 | This sequence change occurs on Chromosome 1, altering RIT1 (Ras like without CAAX 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Noonan syndrome 1 | AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACT... | AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACT... |
Task1_train_1718 | Here is a genetic alteration in RIT1 (Ras like without CAAX 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Noonan syndrome 8 | AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACT... | AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACT... |
Task1_train_1719 | Located on Chromosome 1, this mutation impacts RIT1 (Ras like without CAAX 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; RASopathy | AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACT... | AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACT... |
Task1_train_1720 | The following genetic variant occurs in RIT1 (Ras like without CAAX 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Noonan syndrome 1 | GAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTC... | GAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTC... |
Task1_train_1721 | A variant has been detected on Chromosome 1 in RIT1 (Ras like without CAAX 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Cardiovascular phenotype | GAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTC... | GAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTC... |
Task1_train_1722 | This genomic variant is located on Chromosome 1, within the RIT1 (Ras like without CAAX 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Noonan syndrome 8 | GAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTC... | GAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTC... |
Task1_train_1723 | This variant impacts the gene RIT1 (Ras like without CAAX 1) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; RIT1-related disorder | AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCA... | AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCA... |
Task1_train_1724 | Given a variant located on Chromosome 1 and affecting RIT1 (Ras like without CAAX 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; RASopathy | AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCA... | AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCA... |
Task1_train_1725 | The gene RIT1 (Ras like without CAAX 1), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Noonan syndrome 8 | AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCA... | AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCA... |
Task1_train_1726 | This variant impacts the gene RIT1 (Ras like without CAAX 1) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Noonan syndrome 1 | AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCA... | AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCA... |
Task1_train_1727 | An alteration has been detected in RIT1 (Ras like without CAAX 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Noonan syndrome 8 | ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAG... | ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAG... |
Task1_train_1728 | Chromosome 1 houses a mutation in gene RIT1 (Ras like without CAAX 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; RASopathy | ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAG... | ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAG... |
Task1_train_1729 | Consider this mutation in RIT1 (Ras like without CAAX 1) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Cardiovascular phenotype | ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAG... | ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAG... |
Task1_train_1730 | The variant affects gene RIT1 (Ras like without CAAX 1), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Noonan syndrome and Noonan-related syndrome | ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAG... | ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAG... |
Task1_train_1731 | This variant affects the gene RIT1 (Ras like without CAAX 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; RASopathy | ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAG... | ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAG... |
Task1_train_1732 | The gene RIT1 (Ras like without CAAX 1), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Noonan syndrome and Noonan-related syndrome | ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAG... | ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAG... |
Task1_train_1733 | This alteration occurs within gene RIT1 (Ras like without CAAX 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Noonan syndrome 8 | ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAG... | ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAG... |
Task1_train_1734 | Assess the clinical impact of this variant on gene RIT1 (Ras like without CAAX 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Noonan syndrome 8 | ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAG... | ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAG... |
Task1_train_1735 | Gene RIT1 (Ras like without CAAX 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Noonan syndrome | GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAG... | GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAG... |
Task1_train_1736 | Gene RIT1 (Ras like without CAAX 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neoplasm | GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAG... | GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAG... |
Task1_train_1737 | Gene RIT1 (Ras like without CAAX 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Noonan syndrome 8 | ATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAA... | ATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAA... |
Task1_train_1738 | Given this variant in gene RIT1 (Ras like without CAAX 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; RASopathy | AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCA... | AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCA... |
Task1_train_1739 | A variant was discovered on Chromosome 1, affecting RIT1 (Ras like without CAAX 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Noonan syndrome 1 | AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCA... | AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCA... |
Task1_train_1740 | The following genetic variant occurs in RIT1 (Ras like without CAAX 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Noonan syndrome and Noonan-related syndrome | AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCA... | AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCA... |
Task1_train_1741 | This mutation is located in gene RIT1 (Ras like without CAAX 1) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Noonan syndrome | AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCA... | AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCA... |
Task1_train_1742 | Gene RIT1 (Ras like without CAAX 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Noonan syndrome 8 | AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCA... | AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCA... |
Task1_train_1743 | Given a variant located on Chromosome 1 and affecting RIT1 (Ras like without CAAX 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; RIT1-related disorder | AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCA... | AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCA... |
Task1_train_1744 | Given a variant located on Chromosome 1 and affecting RIT1 (Ras like without CAAX 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cardiovascular phenotype | AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCA... | AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCA... |
Task1_train_1745 | Consider a variant on Chromosome 1 in gene RIT1 (Ras like without CAAX 1). Determine its clinical classification and disease relevance. | Pathogenic; RASopathy | TGGAGTGTGATGGCACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTC... | TGGAGTGTGATGGCACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTC... |
Task1_train_1746 | This variant impacts the gene RIT1 (Ras like without CAAX 1) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Noonan syndrome 8 | TGGAGTGTGATGGCACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTC... | TGGAGTGTGATGGCACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTC... |
Task1_train_1747 | This variant affects the gene RIT1 (Ras like without CAAX 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Noonan syndrome | TGGAGTGTGATGGCACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTC... | TGGAGTGTGATGGCACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTC... |
Task1_train_1748 | Gene RIT1 (Ras like without CAAX 1) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; RIT1-related disorder | CACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAAT... | CACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAAT... |
Task1_train_1749 | A variant was discovered in gene RIT1 (Ras like without CAAX 1), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Noonan syndrome 8 | CACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAAT... | CACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAAT... |
Task1_train_1750 | Here is a genetic alteration in RIT1 (Ras like without CAAX 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Noonan syndrome 1 | CACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAAT... | CACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAAT... |
Task1_train_1751 | This sequence variant lies in RIT1 (Ras like without CAAX 1) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Noonan syndrome 8 | CTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCA... | CTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCA... |
Task1_train_1752 | A sequence alteration has been identified in RIT1 (Ras like without CAAX 1) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Noonan syndrome 1 | CTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCA... | CTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCA... |
Task1_train_1753 | This mutation occurs in RIT1 (Ras like without CAAX 1) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Noonan syndrome 8 | CCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATA... | CCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATA... |
Task1_train_1754 | The variant affects gene LMNA (lamin A/C), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Charcot-Marie-Tooth disease type 2 | CTTGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAG... | CTTGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAG... |
Task1_train_1755 | Assess the clinical impact of this variant on gene LMNA (lamin A/C), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Cardiovascular phenotype | TTGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGC... | TTGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGC... |
Task1_train_1756 | A mutation on Chromosome 1 affecting LMNA (lamin A/C) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Charcot-Marie-Tooth disease type 2 | TGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCT... | TGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCT... |
Task1_train_1757 | A genomic change on Chromosome 1 affects LMNA (lamin A/C). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; See cases | TGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCT... | TGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCT... |
Task1_train_1758 | An alteration has been detected in LMNA (lamin A/C) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | TGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCT... | TGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCT... |
Task1_train_1759 | Gene LMNA (lamin A/C) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease type 2 | TACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGA... | TACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGA... |
Task1_train_1760 | The variant affects gene LMNA, LOC129931597 (lamin A/C| ATAC-STARR-seq lymphoblastoid silent region 1421), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Charcot-Marie-Tooth disease type 2 | GGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACT... | GGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACT... |
Task1_train_1761 | This variant impacts the gene LMNA, LOC129931597 (lamin A/C| ATAC-STARR-seq lymphoblastoid silent region 1421) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Charcot-Marie-Tooth disease type 2 | GGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGG... | GGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGG... |
Task1_train_1762 | The following genetic variant occurs in LMNA, LOC129931597 (lamin A/C| ATAC-STARR-seq lymphoblastoid silent region 1421) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Charcot-Marie-Tooth disease type 2 | GCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGG... | GCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGG... |
Task1_train_1763 | Mutation context: Chromosome 1, Gene LMNA, LOC129931597 (lamin A/C| ATAC-STARR-seq lymphoblastoid silent region 1421). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease type 2 | GGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAG... | GGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAG... |
Task1_train_1764 | A variant was discovered on Chromosome 1, affecting LMNA (lamin A/C). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; LMNA-related disorder | CTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAA... | CTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAA... |
Task1_train_1765 | The gene LMNA (lamin A/C) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Emery-Dreifuss muscular dystrophy 2, autosomal dominant | CTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAA... | CTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAA... |
Task1_train_1766 | A variant was discovered on Chromosome 1, affecting LMNA (lamin A/C). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Charcot-Marie-Tooth disease type 2 | CTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAA... | CTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAA... |
Task1_train_1767 | The gene LMNA (lamin A/C), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Charcot-Marie-Tooth disease type 2 | TGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAA... | TGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAA... |
Task1_train_1768 | Here’s a variant in LMNA (lamin A/C) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Charcot-Marie-Tooth disease type 2 | CCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAAC... | CCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAAC... |
Task1_train_1769 | Gene LMNA (lamin A/C) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Charcot-Marie-Tooth disease type 2 | AGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAA... | AGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAA... |
Task1_train_1770 | A variant on Chromosome 1 in gene LMNA (lamin A/C) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Familial partial lipodystrophy, Dunnigan type | GGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAA... | GGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAA... |
Task1_train_1771 | Here is a genetic alteration in LMNA (lamin A/C) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | AATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGG... | AATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGG... |
Task1_train_1772 | A mutation in LMNA (lamin A/C), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | GAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACC... | GAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACC... |
Task1_train_1773 | Here is a variant affecting LMNA (lamin A/C) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Familial partial lipodystrophy, Dunnigan type | ACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAG... | ACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAG... |
Task1_train_1774 | Here is a variant affecting LMNA (lamin A/C) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Dilated cardiomyopathy 1A | ACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAG... | ACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAG... |
Task1_train_1775 | Here is a variant affecting LMNA (lamin A/C) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Familial partial lipodystrophy, Dunnigan type | GGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGG... | GGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGG... |
Task1_train_1776 | The gene LMNA (lamin A/C) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Charcot-Marie-Tooth disease type 2 | GGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGG... | GGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGG... |
Task1_train_1777 | A sequence alteration has been identified in LMNA (lamin A/C) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Charcot-Marie-Tooth disease type 2 | GCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATG... | GCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATG... |
Task1_train_1778 | This gene mutation involves LMNA (lamin A/C) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth disease type 2 | TTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGG... | TTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGG... |
Task1_train_1779 | Located on Chromosome 1, this mutation impacts LMNA (lamin A/C). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Charcot-Marie-Tooth disease type 2 | GTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAG... | GTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAG... |
Task1_train_1780 | Mutation context: Chromosome 1, Gene LMNA (lamin A/C). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Primary dilated cardiomyopathy | GTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAG... | GTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAG... |
Task1_train_1781 | The gene LMNA (lamin A/C) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cardiovascular phenotype | AATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAG... | AATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAG... |
Task1_train_1782 | Here is a variant affecting LMNA (lamin A/C) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Charcot-Marie-Tooth disease type 2 | AATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAG... | AATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAG... |
Task1_train_1783 | With a mutation on Chromosome 1 in gene LMNA (lamin A/C), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Charcot-Marie-Tooth disease type 2 | AAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAAC... | AAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAAC... |
Task1_train_1784 | Chromosome 1 houses a mutation in gene LMNA (lamin A/C). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Charcot-Marie-Tooth disease type 2 | AAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGG... | AAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGG... |
Task1_train_1785 | Located on Chromosome 1, this mutation impacts LMNA (lamin A/C). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Charcot-Marie-Tooth disease type 2 | CCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCC... | CCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCC... |
Task1_train_1786 | Here is a mutation in LMNA, LOC126805877 (lamin A/C| MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth disease type 2 | GGAAAGCAGTGAGGTGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTT... | GGAAAGCAGTGAGGTGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTT... |
Task1_train_1787 | This mutation is located in gene LMNA, LOC126805877 (lamin A/C| MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | TGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTC... | TGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTC... |
Task1_train_1788 | This variant affects the gene LMNA, LOC126805877 (lamin A/C| MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hutchinson-Gilford progeria syndrome, childhood-onset | GGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTT... | GGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTT... |
Task1_train_1789 | Given this variant in gene LMNA, LOC126805877 (lamin A/C| MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Charcot-Marie-Tooth disease type 2 | GGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCC... | GGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCC... |
Task1_train_1790 | A variant has been detected on Chromosome 1 in LOC126805877, LMNA (MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892| lamin A/C). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Congenital muscular dystrophy due to LMNA mutation | CTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTC... | CTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTC... |
Task1_train_1791 | A variant affecting Chromosome 1, within the gene LMNA, LOC126805877 (lamin A/C| MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Charcot-Marie-Tooth disease type 2 | GATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCC... | GATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCC... |
Task1_train_1792 | Gene LOC126805877, LMNA (MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892| lamin A/C) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hutchinson-Gilford progeria syndrome, atypical | TCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCT... | TCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCT... |
Task1_train_1793 | With a mutation on Chromosome 1 in gene LMNA (lamin A/C), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; LMNA-related disorder | GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCC... | GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCC... |
Task1_train_1794 | The variant affects gene LMNA (lamin A/C), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Charcot-Marie-Tooth disease type 2 | GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCC... | GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCC... |
Task1_train_1795 | Gene LMNA (lamin A/C) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cardiovascular phenotype | GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCC... | GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCC... |
Task1_train_1796 | Gene LMNA (lamin A/C) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Primary dilated cardiomyopathy | GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCC... | GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCC... |
Task1_train_1797 | A change on Chromosome 1 affects gene LMNA (lamin A/C). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease type 2 | GGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTC... | GGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTC... |
Task1_train_1798 | This is a variant in LMNA (lamin A/C), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Primary dilated cardiomyopathy | GGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTC... | GGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTC... |
Task1_train_1799 | Here is a mutation in LMNA (lamin A/C) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth disease type 2 | AACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACT... | AACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACT... |
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