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_16200 | A mutation found in CPT1A (carnitine palmitoyltransferase 1A) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Carnitine palmitoyl transferase 1A deficiency | ACGTACGGAGCCCTTCCTGTGAATGACTCCCATGGGTAAGATGCTGATCTGGCCCTATCCAGAGGGGGCATCGGGACCGAGGCGCCTACAGACCCACAGGGAGCCCAGGCCCCGCGGCGCCGGCTCAGGCTCCCCACGTCTCCTCCGCTGGGGATTCCAGGCTCTGAGAGGAGGGCATCGGATGAGCGCATCTTCACCCGAGATGCATCTCCTGCCGCCGCTCTTTCCAGCCTTGTCAACACCACAGCAGATACCGAACAACGCCGGCTTGCCCGCACACATCCTCCTCCATCCCGCTCCTGCTCCCAGGCCTGGCCCTC... | ACGTACGGAGCCCTTCCTGTGAATGACTCCCATGGGTAAGATGCTGATCTGGCCCTATCCAGAGGGGGCATCGGGACCGAGGCGCCTACAGACCCACAGGGAGCCCAGGCCCCGCGGCGCCGGCTCAGGCTCCCCACGTCTCCTCCGCTGGGGATTCCAGGCTCTGAGAGGAGGGCATCGGATGAGCGCATCTTCACCCGAGATGCATCTCCTGCCGCCGCTCTTTCCAGCCTTGTCAACACCACAGCAGATACCGAACAACGCCGGCTTGCCCGCACACATCCTCCTCCATCCCGCTCCTGCTCCCAGGCCTGGCCCTC... |
Task1_train_16201 | Mutation context: Chromosome 11, Gene CPT1A (carnitine palmitoyltransferase 1A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Carnitine palmitoyl transferase 1A deficiency | AAGGTTGCAAGCAACTCAGCTGGACGCTCGATGACTCTGGAGGGTCCAGGGGCTTCCTGGAGAAGGAACAGGATGTGGAGGGGTCCTCTGCAGACCCTTCGCAAAAAGAGGTTCAGGAATCAGGGCACTTGCTCAAGCTGTCATCAGGAGACTCAGACCATTAATCTGCTTAATCTTTTATTTCTAGTCATCAGAATCAAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCGAGGCGAGTGGACCACCTGAGGTCAATAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCTCATCTCTACA... | AAGGTTGCAAGCAACTCAGCTGGACGCTCGATGACTCTGGAGGGTCCAGGGGCTTCCTGGAGAAGGAACAGGATGTGGAGGGGTCCTCTGCAGACCCTTCGCAAAAAGAGGTTCAGGAATCAGGGCACTTGCTCAAGCTGTCATCAGGAGACTCAGACCATTAATCTGCTTAATCTTTTATTTCTAGTCATCAGAATCAAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCGAGGCGAGTGGACCACCTGAGGTCAATAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCTCATCTCTACA... |
Task1_train_16202 | A variant was discovered on Chromosome 11, affecting CPT1A (carnitine palmitoyltransferase 1A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Carnitine palmitoyl transferase 1A deficiency | AGGAGGCTGAAGCAGAAGAATCACTGAGCCCAGGAGGCGGAGGTTGCAGTGAGCCAAGGTTGTGCCATTGCACTCCAACCTGGGCAACAGAGTGAGGCTCTGTCCAAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCATTGTGGTGTGCACCTATGGTCCCAACTACTTGGGTGGATGAGACAGGAGGATTGCCTGAGCCCAGTGAGGCTACAGTGAGCCGTGATCGCACCACTGCACTCCACCCTGAGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAGAGGGGAGGGGAGGGGAGAGGGAGAACAACATTCCC... | AGGAGGCTGAAGCAGAAGAATCACTGAGCCCAGGAGGCGGAGGTTGCAGTGAGCCAAGGTTGTGCCATTGCACTCCAACCTGGGCAACAGAGTGAGGCTCTGTCCAAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCATTGTGGTGTGCACCTATGGTCCCAACTACTTGGGTGGATGAGACAGGAGGATTGCCTGAGCCCAGTGAGGCTACAGTGAGCCGTGATCGCACCACTGCACTCCACCCTGAGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAGAGGGGAGGGGAGGGGAGAGGGAGAACAACATTCCC... |
Task1_train_16203 | Gene IGHMBP2 (immunoglobulin mu DNA binding protein 2) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | TTAAAATAATGTTCTTTTTAGTGTATATAAATCTTTTATTTTGAAATGTAATGATATTTCTTTTAGCTTAGTACTTTGTGAAAATAGAGGAAAGCTGATCATACTTTATGCTTGATAGCAATTTTAGGTTGGAAAAATCTTTTTTTTTTTTTTTTGAGACGGAGACTTGCTCTGTCACCAAGAGTGGGGTGCAGTGGTGCGACCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTTAG... | TTAAAATAATGTTCTTTTTAGTGTATATAAATCTTTTATTTTGAAATGTAATGATATTTCTTTTAGCTTAGTACTTTGTGAAAATAGAGGAAAGCTGATCATACTTTATGCTTGATAGCAATTTTAGGTTGGAAAAATCTTTTTTTTTTTTTTTTGAGACGGAGACTTGCTCTGTCACCAAGAGTGGGGTGCAGTGGTGCGACCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTTAG... |
Task1_train_16204 | This mutation occurs in IGHMBP2 (immunoglobulin mu DNA binding protein 2) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2S | AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACAATTAGCCGGGTGTGGTGGCACACACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATCGCACCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAACCACGAGGAAACTGAGAAACAAGGTCAAATGCCCAGCACTCAGAGTGGCAGAGCCAGCAATGGAACTCGGGCAGAGCGCAGGGAAGCCTGTCACT... | AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACAATTAGCCGGGTGTGGTGGCACACACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATCGCACCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAACCACGAGGAAACTGAGAAACAAGGTCAAATGCCCAGCACTCAGAGTGGCAGAGCCAGCAATGGAACTCGGGCAGAGCGCAGGGAAGCCTGTCACT... |
Task1_train_16205 | This is a variant in IGHMBP2 (immunoglobulin mu DNA binding protein 2), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Autosomal recessive distal spinal muscular atrophy 1 | AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACAATTAGCCGGGTGTGGTGGCACACACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATCGCACCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAACCACGAGGAAACTGAGAAACAAGGTCAAATGCCCAGCACTCAGAGTGGCAGAGCCAGCAATGGAACTCGGGCAGAGCGCAGGGAAGCCTGTCACT... | AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACAATTAGCCGGGTGTGGTGGCACACACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATCGCACCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAACCACGAGGAAACTGAGAAACAAGGTCAAATGCCCAGCACTCAGAGTGGCAGAGCCAGCAATGGAACTCGGGCAGAGCGCAGGGAAGCCTGTCACT... |
Task1_train_16206 | Here is a variant affecting IGHMBP2 (immunoglobulin mu DNA binding protein 2) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not specified | AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACAATTAGCCGGGTGTGGTGGCACACACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATCGCACCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAACCACGAGGAAACTGAGAAACAAGGTCAAATGCCCAGCACTCAGAGTGGCAGAGCCAGCAATGGAACTCGGGCAGAGCGCAGGGAAGCCTGTCACT... | AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACAATTAGCCGGGTGTGGTGGCACACACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATCGCACCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAACCACGAGGAAACTGAGAAACAAGGTCAAATGCCCAGCACTCAGAGTGGCAGAGCCAGCAATGGAACTCGGGCAGAGCGCAGGGAAGCCTGTCACT... |
Task1_train_16207 | Given this context: Chromosome 11, gene IGHMBP2 (immunoglobulin mu DNA binding protein 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Inborn genetic diseases | ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGC... | ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGC... |
Task1_train_16208 | A mutation on Chromosome 11 affecting IGHMBP2 (immunoglobulin mu DNA binding protein 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal recessive distal spinal muscular atrophy 1 | ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGC... | ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGC... |
Task1_train_16209 | Here is a mutation in IGHMBP2 (immunoglobulin mu DNA binding protein 2) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2S | ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGC... | ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGC... |
Task1_train_16210 | This mutation is located in gene IGHMBP2 (immunoglobulin mu DNA binding protein 2) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Autosomal recessive distal spinal muscular atrophy 1 | ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGC... | ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGC... |
Task1_train_16211 | A mutation found in IGHMBP2 (immunoglobulin mu DNA binding protein 2) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2S | ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGC... | ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGC... |
Task1_train_16212 | This is a variant in IGHMBP2 (immunoglobulin mu DNA binding protein 2), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Autosomal recessive distal spinal muscular atrophy 1 | TCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGC... | TCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGC... |
Task1_train_16213 | Located on Chromosome 11, this mutation impacts IGHMBP2 (immunoglobulin mu DNA binding protein 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2S | GGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCC... | GGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCC... |
Task1_train_16214 | Here’s a variant in IGHMBP2 (immunoglobulin mu DNA binding protein 2) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal recessive distal spinal muscular atrophy 1 | ACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCC... | ACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCC... |
Task1_train_16215 | This alteration occurs within gene IGHMBP2 (immunoglobulin mu DNA binding protein 2) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2S | ACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCC... | ACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCC... |
Task1_train_16216 | The gene IGHMBP2 (immunoglobulin mu DNA binding protein 2), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Autosomal recessive distal spinal muscular atrophy 1 | TGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACAT... | TGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACAT... |
Task1_train_16217 | Here is a variant affecting IGHMBP2 (immunoglobulin mu DNA binding protein 2) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2S | TGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACAT... | TGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACAT... |
Task1_train_16218 | Here is a mutation in IGHMBP2 (immunoglobulin mu DNA binding protein 2) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Inborn genetic diseases | TGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACAT... | TGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACAT... |
Task1_train_16219 | The gene IGHMBP2 (immunoglobulin mu DNA binding protein 2) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2S | TATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGA... | TATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGA... |
Task1_train_16220 | A variant has been detected on Chromosome 11 in IGHMBP2 (immunoglobulin mu DNA binding protein 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal recessive distal spinal muscular atrophy 1 | AGCCTTTGGGTGGAGGAAGTTTGGAACTGTGCCCTTGAGCAGGGACCCTGTTGTGTAGGAGGGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGTGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCATTCCCTGGAGACAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGGAAGAC... | AGCCTTTGGGTGGAGGAAGTTTGGAACTGTGCCCTTGAGCAGGGACCCTGTTGTGTAGGAGGGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGTGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCATTCCCTGGAGACAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGGAAGAC... |
Task1_train_16221 | A change on Chromosome 11 affects gene IGHMBP2 (immunoglobulin mu DNA binding protein 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2S | AGCCTTTGGGTGGAGGAAGTTTGGAACTGTGCCCTTGAGCAGGGACCCTGTTGTGTAGGAGGGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGTGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCATTCCCTGGAGACAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGGAAGAC... | AGCCTTTGGGTGGAGGAAGTTTGGAACTGTGCCCTTGAGCAGGGACCCTGTTGTGTAGGAGGGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGTGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCATTCCCTGGAGACAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGGAAGAC... |
Task1_train_16222 | A variant affecting Chromosome 11, within the gene LOC126861245, IGHMBP2 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:68701479-68702678| immunoglobulin mu DNA binding protein 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Inborn genetic diseases | CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAAC... | CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAAC... |
Task1_train_16223 | Gene LOC126861245, IGHMBP2 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:68701479-68702678| immunoglobulin mu DNA binding protein 2) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal recessive distal spinal muscular atrophy 1 | CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAAC... | CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAAC... |
Task1_train_16224 | Given this variant in gene LOC126861245, IGHMBP2 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:68701479-68702678| immunoglobulin mu DNA binding protein 2) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2S | CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAAC... | CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAAC... |
Task1_train_16225 | This genomic variant is located on Chromosome 11, within the LOC126861245, IGHMBP2 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:68701479-68702678| immunoglobulin mu DNA binding protein 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal recessive distal spinal muscular atrophy 1 | CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAAC... | CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAAC... |
Task1_train_16226 | Given this context: Chromosome 11, gene LOC126861245, IGHMBP2 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:68701479-68702678| immunoglobulin mu DNA binding protein 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2S | CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAAC... | CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAAC... |
Task1_train_16227 | Given this variant in gene IGHMBP2 (immunoglobulin mu DNA binding protein 2) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal recessive distal spinal muscular atrophy 1 | GAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGAT... | GAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGAT... |
Task1_train_16228 | Gene IGHMBP2 (immunoglobulin mu DNA binding protein 2) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2S | GAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGAT... | GAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGAT... |
Task1_train_16229 | Gene IGHMBP2 (immunoglobulin mu DNA binding protein 2), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not specified | GAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGAT... | GAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGAT... |
Task1_train_16230 | The gene FGF3 (fibroblast growth factor 3) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Deafness with labyrinthine aplasia, microtia, and microdontia | CACAGCCATCAGCTGCGAAAAATCCACATTCTCTTGTCAAAGCTGTTTTACATGTTAAACAAGAGCCCCCAGTGTCTCCTACGCCTTCATCAGGGACCATCTGTTGATCCTGCAGCACTGAGTACTGCTGCTTCCCCTGTGTTGACACAGCCCCGGGCAAGTTCCCCTTGCCAGGACTCAGGGTCATCATCTGCAAGGAGGGAGTGATGGCAGCCCCTGCCCCATCTCACTCTAGAGAAACAACAAAACCCACAGCAGAGCTCAGCTGCGTGCTGCTCCTGTTGACTGCCAGGAATGTTCGCAGCTGCAGGGGAGCCATT... | CACAGCCATCAGCTGCGAAAAATCCACATTCTCTTGTCAAAGCTGTTTTACATGTTAAACAAGAGCCCCCAGTGTCTCCTACGCCTTCATCAGGGACCATCTGTTGATCCTGCAGCACTGAGTACTGCTGCTTCCCCTGTGTTGACACAGCCCCGGGCAAGTTCCCCTTGCCAGGACTCAGGGTCATCATCTGCAAGGAGGGAGTGATGGCAGCCCCTGCCCCATCTCACTCTAGAGAAACAACAAAACCCACAGCAGAGCTCAGCTGCGTGCTGCTCCTGTTGACTGCCAGGAATGTTCGCAGCTGCAGGGGAGCCATT... |
Task1_train_16231 | Gene FGF3 (fibroblast growth factor 3), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Deafness with labyrinthine aplasia, microtia, and microdontia | GGCTGAAGAGATGCAGGGGCGTGGTCTGAGGACTAGGGATGGACTGAATAGCAGGAGGGGTCTACCATGACTCCCAGCCCACTCTGGGTGAGAGTGAGTGGCTGGTGGGGCGATGATTAAGATGGGGAGTCGGGGAGCTGCTGAGTTCGGTTCGAGTGTCTGAGTCAGCAGGATGTTGGGGGAGGGTGGTCTATACCTCAGAAGGGAGGTCAGGGCCAGACCAGGAGTGTCAGGGTGCAGTGCTCACTGGCCCACAGTGAGATGAGCTGGCCTGAGGGCAAGCATGCTGCCGGCAAAGTCCAGGGAGCCCCGTGGTGGGA... | GGCTGAAGAGATGCAGGGGCGTGGTCTGAGGACTAGGGATGGACTGAATAGCAGGAGGGGTCTACCATGACTCCCAGCCCACTCTGGGTGAGAGTGAGTGGCTGGTGGGGCGATGATTAAGATGGGGAGTCGGGGAGCTGCTGAGTTCGGTTCGAGTGTCTGAGTCAGCAGGATGTTGGGGGAGGGTGGTCTATACCTCAGAAGGGAGGTCAGGGCCAGACCAGGAGTGTCAGGGTGCAGTGCTCACTGGCCCACAGTGAGATGAGCTGGCCTGAGGGCAAGCATGCTGCCGGCAAAGTCCAGGGAGCCCCGTGGTGGGA... |
Task1_train_16232 | Given this variant in gene FGF3, LOC109115964 (fibroblast growth factor 3| FGF3 5' regulatory region) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Deafness with labyrinthine aplasia, microtia, and microdontia | CCCTGGCTTTCATTCGAGCCTCACAACACCTTGCCAGCTGCCATCATCATCCGACAGACAAGCAAGTGGGGACCACTATGGCTGGGTGACTGTCAGGCCCCTGCACATGTGCTTGAGCGGGAAATCAAGCCCTGGCGGCAGCCATGGGAGTCTGAGCTCTGGGACTGCACGGTCCCCAATGCCTGTGCCTGCCAGCGGGAAAGCTGGGCCCTGATGAGCCAGGCTGATAATATAAACCACTGGCAATAACACAGCCAGGGTGCCTGCCACCCAGATCATGCTGGCAATAGACCTGGCGGGAGATCATTGTACTCGCCGGG... | CCCTGGCTTTCATTCGAGCCTCACAACACCTTGCCAGCTGCCATCATCATCCGACAGACAAGCAAGTGGGGACCACTATGGCTGGGTGACTGTCAGGCCCCTGCACATGTGCTTGAGCGGGAAATCAAGCCCTGGCGGCAGCCATGGGAGTCTGAGCTCTGGGACTGCACGGTCCCCAATGCCTGTGCCTGCCAGCGGGAAAGCTGGGCCCTGATGAGCCAGGCTGATAATATAAACCACTGGCAATAACACAGCCAGGGTGCCTGCCACCCAGATCATGCTGGCAATAGACCTGGCGGGAGATCATTGTACTCGCCGGG... |
Task1_train_16233 | Mutation context: Chromosome 11, Gene FGF3, LOC109115964 (fibroblast growth factor 3| FGF3 5' regulatory region). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Deafness with labyrinthine aplasia, microtia, and microdontia | TGCCTGTGCCTGCCAGCGGGAAAGCTGGGCCCTGATGAGCCAGGCTGATAATATAAACCACTGGCAATAACACAGCCAGGGTGCCTGCCACCCAGATCATGCTGGCAATAGACCTGGCGGGAGATCATTGTACTCGCCGGGGGACCTGGAAGGGCAGGAAGCCAGTTTAGACCCTGGAGCCCGCAGAGGGAAGCTGGACGGGTCTCACCCACTCCCCAGGGATAAGAAAGTTTAAATCTCCCCTCCCGCCTTTCCTTCTGGATACACGAGTGCTGTGGTGGGGGCTGGGGGCGGGGGACTACATCAAAGGACGGGTTGGG... | TGCCTGTGCCTGCCAGCGGGAAAGCTGGGCCCTGATGAGCCAGGCTGATAATATAAACCACTGGCAATAACACAGCCAGGGTGCCTGCCACCCAGATCATGCTGGCAATAGACCTGGCGGGAGATCATTGTACTCGCCGGGGGACCTGGAAGGGCAGGAAGCCAGTTTAGACCCTGGAGCCCGCAGAGGGAAGCTGGACGGGTCTCACCCACTCCCCAGGGATAAGAAAGTTTAAATCTCCCCTCCCGCCTTTCCTTCTGGATACACGAGTGCTGTGGTGGGGGCTGGGGGCGGGGGACTACATCAAAGGACGGGTTGGG... |
Task1_train_16234 | The gene FADD (Fas associated via death domain), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; FADD-related immunodeficiency | AATACTAGCATTCAGTAACTCCTACCCAGGGGCTTACAGTGTGCCGCTTACCCTTGTAACTGCCAAATACAATTTTCGCAGTAGCCCTGTGGCTTAGATACTGTTAGCTATCACTGTTCCCATTTTACAGAGGACAGGACTGTGGCTCACAGGTTAAGTGGCTTTGTCGAAATGCGCAGCCGATAACTGACGGAGCTAGGCTTGAGCCAAGCAGTCCGGCCTCCGGATGGGTAGTGTTAGCCACTACACTGCCTCTCTGGTCAAGTTCATTGTGGAGTGGCTTCCTGTCCTGCTCTCGGTCACTCCCTCTCCACCCTCGC... | AATACTAGCATTCAGTAACTCCTACCCAGGGGCTTACAGTGTGCCGCTTACCCTTGTAACTGCCAAATACAATTTTCGCAGTAGCCCTGTGGCTTAGATACTGTTAGCTATCACTGTTCCCATTTTACAGAGGACAGGACTGTGGCTCACAGGTTAAGTGGCTTTGTCGAAATGCGCAGCCGATAACTGACGGAGCTAGGCTTGAGCCAAGCAGTCCGGCCTCCGGATGGGTAGTGTTAGCCACTACACTGCCTCTCTGGTCAAGTTCATTGTGGAGTGGCTTCCTGTCCTGCTCTCGGTCACTCCCTCTCCACCCTCGC... |
Task1_train_16235 | This alteration occurs within gene DHCR7 (7-dehydrocholesterol reductase) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Smith-Lemli-Opitz syndrome | CTGCAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGG... | CTGCAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGG... |
Task1_train_16236 | Here is a variant affecting DHCR7 (7-dehydrocholesterol reductase) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Smith-Lemli-Opitz syndrome | CAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAG... | CAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAG... |
Task1_train_16237 | Consider this mutation in DHCR7 (7-dehydrocholesterol reductase) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Smith-Lemli-Opitz syndrome | CCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCA... | CCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCA... |
Task1_train_16238 | A mutation found in DHCR7 (7-dehydrocholesterol reductase) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Inborn genetic diseases | AAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGAT... | AAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGAT... |
Task1_train_16239 | Consider a variant on Chromosome 11 in gene DHCR7 (7-dehydrocholesterol reductase). Determine its clinical classification and disease relevance. | Pathogenic; Smith-Lemli-Opitz syndrome | AAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGAT... | AAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGAT... |
Task1_train_16240 | Consider a variant on Chromosome 11 in gene DHCR7 (7-dehydrocholesterol reductase). Determine its clinical classification and disease relevance. | Pathogenic; Smith-Lemli-Opitz syndrome | CTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGA... | CTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGA... |
Task1_train_16241 | Assess the clinical impact of this variant on gene DHCR7 (7-dehydrocholesterol reductase), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Inborn genetic diseases | CTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGC... | CTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGC... |
Task1_train_16242 | This genomic variant is located on Chromosome 11, within the DHCR7 (7-dehydrocholesterol reductase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Smith-Lemli-Opitz syndrome | CTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGC... | CTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGC... |
Task1_train_16243 | This mutation is located in gene DHCR7 (7-dehydrocholesterol reductase) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not specified | GGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAG... | GGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAG... |
Task1_train_16244 | A mutation on Chromosome 11 affecting DHCR7 (7-dehydrocholesterol reductase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Smith-Lemli-Opitz syndrome | GGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAG... | GGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAG... |
Task1_train_16245 | Here is a mutation in DHCR7 (7-dehydrocholesterol reductase) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Smith-Lemli-Opitz syndrome | GTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCT... | GTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCT... |
Task1_train_16246 | A change on Chromosome 11 affects gene DHCR7 (7-dehydrocholesterol reductase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Smith-Lemli-Opitz syndrome | TGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTG... | TGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTG... |
Task1_train_16247 | A genomic change on Chromosome 11 affects DHCR7 (7-dehydrocholesterol reductase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Smith-Lemli-Opitz syndrome | CTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGC... | CTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGC... |
Task1_train_16248 | A sequence alteration has been identified in DHCR7 (7-dehydrocholesterol reductase) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Smith-Lemli-Opitz syndrome | AGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACAT... | AGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACAT... |
Task1_train_16249 | This mutation is located in gene DHCR7 (7-dehydrocholesterol reductase) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Smith-Lemli-Opitz syndrome | GTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAG... | GTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAG... |
Task1_train_16250 | A variant was discovered on Chromosome 11, affecting DHCR7 (7-dehydrocholesterol reductase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Smith-Lemli-Opitz syndrome | CACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTT... | CACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTT... |
Task1_train_16251 | A mutation on Chromosome 11 affecting DHCR7 (7-dehydrocholesterol reductase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Smith-Lemli-Opitz syndrome | TAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACA... | TAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACA... |
Task1_train_16252 | A variant was discovered on Chromosome 11, affecting DHCR7 (7-dehydrocholesterol reductase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Smith-Lemli-Opitz syndrome | CTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTT... | CTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTT... |
Task1_train_16253 | The gene DHCR7 (7-dehydrocholesterol reductase), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not specified | GCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGC... | GCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGC... |
Task1_train_16254 | The variant affects gene DHCR7 (7-dehydrocholesterol reductase), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Smith-Lemli-Opitz syndrome | GCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGC... | GCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGC... |
Task1_train_16255 | Here is a genetic alteration in DHCR7 (7-dehydrocholesterol reductase) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Smith-Lemli-Opitz syndrome | GGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCA... | GGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCA... |
Task1_train_16256 | The gene DHCR7 (7-dehydrocholesterol reductase) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not specified | GGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCA... | GGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCA... |
Task1_train_16257 | The following genetic variant occurs in DHCR7 (7-dehydrocholesterol reductase) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Smith-Lemli-Opitz syndrome | TTTGAGGCCTGGTGCTGTGAAAAATCCAAGCAAAATGGATTTCTATCCTGTGACAAGTCTTAGGGACAAAGCAGCGCTGGGGAGGACTGGCCCCTGAGAGAAAGGGATGAGAACGGGAGCCTGGGGAGGGTGGAAGGGAGGAGGCTACCTGCAGGAGTCACGGCCCCCTCCTGGATGCCTCCTACGTAGCCGGGTAGAAACTTATGGCAGAAGTCAGGGAGAGACGTGTACAGAAGCACCTGAAACACACAAGCAGCCTGATCACCCCCCGCCTGGAGGGCACCTGCAAAGGGGGACGCATAGCAGGAACATGAGAATCA... | TTTGAGGCCTGGTGCTGTGAAAAATCCAAGCAAAATGGATTTCTATCCTGTGACAAGTCTTAGGGACAAAGCAGCGCTGGGGAGGACTGGCCCCTGAGAGAAAGGGATGAGAACGGGAGCCTGGGGAGGGTGGAAGGGAGGAGGCTACCTGCAGGAGTCACGGCCCCCTCCTGGATGCCTCCTACGTAGCCGGGTAGAAACTTATGGCAGAAGTCAGGGAGAGACGTGTACAGAAGCACCTGAAACACACAAGCAGCCTGATCACCCCCCGCCTGGAGGGCACCTGCAAAGGGGGACGCATAGCAGGAACATGAGAATCA... |
Task1_train_16258 | The gene DHCR7 (7-dehydrocholesterol reductase), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Smith-Lemli-Opitz syndrome | CAGAACTTTTCATCACCACAGAAGAAAATGTTGTTCCAATCTCCGGTCACTCTGAATTCCCTGTCCCTGCCGCCCCTGGCTGCCACTGAGCTTTCTGCCTCTGTGGATTTGCCTGTACTGGGTATTGCATATAAAGGGAACCACACAGTATGCAGCCTCTGTGACTGGCTTCTCTCGCTCAGCAGTGTCTTCAAGGGTCATCCGCCTACTGGCATCAGAGCTTCATTCCCTTCCGCTGCCAAATAGTGTCCCACAGTGGGCACAGTGTTCTGTTCTGTGGGTCCATTCATCTACTGATGGACAGGTGGGGGTTCCTGCTT... | CAGAACTTTTCATCACCACAGAAGAAAATGTTGTTCCAATCTCCGGTCACTCTGAATTCCCTGTCCCTGCCGCCCCTGGCTGCCACTGAGCTTTCTGCCTCTGTGGATTTGCCTGTACTGGGTATTGCATATAAAGGGAACCACACAGTATGCAGCCTCTGTGACTGGCTTCTCTCGCTCAGCAGTGTCTTCAAGGGTCATCCGCCTACTGGCATCAGAGCTTCATTCCCTTCCGCTGCCAAATAGTGTCCCACAGTGGGCACAGTGTTCTGTTCTGTGGGTCCATTCATCTACTGATGGACAGGTGGGGGTTCCTGCTT... |
Task1_train_16259 | This mutation occurs in NADSYN1 (NAD synthetase 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Vertebral, cardiac, renal, and limb defects syndrome 3 | GCGATCCGTAGGCAGGGCCTGACGCCGCAGTCCTCCTTGGCCGGAGCCTCAACGGATGGGCGGGGAGGGGGCGGGGCCGGGCAACCCGGAAGGTCCGGCGTCCCAGCCGCCTACCTCGCTGGGACCCTGGTCTTGCTGTCCCCCGCTGGCCTCCTGCCCAAGCGACTGCGGCCAGGATGGGCCGGAAGGTGACCGTGGCCACCTGCGCACTCAACCAGTGGGCCCTGGACTTCGAGGGCAATTTGCAAAGAATTTTAAAGAGTGAGTCTGGGGCGGCGGGGGCACCGGTTTGGGGTGGCGCACGGGCACCGTGGCTGGGC... | GCGATCCGTAGGCAGGGCCTGACGCCGCAGTCCTCCTTGGCCGGAGCCTCAACGGATGGGCGGGGAGGGGGCGGGGCCGGGCAACCCGGAAGGTCCGGCGTCCCAGCCGCCTACCTCGCTGGGACCCTGGTCTTGCTGTCCCCCGCTGGCCTCCTGCCCAAGCGACTGCGGCCAGGATGGGCCGGAAGGTGACCGTGGCCACCTGCGCACTCAACCAGTGGGCCCTGGACTTCGAGGGCAATTTGCAAAGAATTTTAAAGAGTGAGTCTGGGGCGGCGGGGGCACCGGTTTGGGGTGGCGCACGGGCACCGTGGCTGGGC... |
Task1_train_16260 | Here is a genetic alteration in NADSYN1 (NAD synthetase 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; NADSYN1-related disorder | ATGAACCGCTTCTCTCAGAGGGGCCCTCCAAGGTTAACCTGAAAGACGGGTTCAGGCCATGACTGGGAGTGGGGGGTGATCGGGGGTCGGACAGGCCTCATTTACCCTCCTCCCTTTTGGAAAAGCCGACCAGCATGAGCATCAACACAGACCTTAAGTCTCATAAGAAACATTTACAGTCTGTTCTCTCTGAAGCCTGCTACTTGGAGGTTTCATTTACATCATAAAACTTTGGTCTCCACAACCCGCTATCATAACCCAGACATTCCTTTCTATTGATAATAACTCTTTCAACCAATTGCCAGTCAGAACTGTTTAAA... | ATGAACCGCTTCTCTCAGAGGGGCCCTCCAAGGTTAACCTGAAAGACGGGTTCAGGCCATGACTGGGAGTGGGGGGTGATCGGGGGTCGGACAGGCCTCATTTACCCTCCTCCCTTTTGGAAAAGCCGACCAGCATGAGCATCAACACAGACCTTAAGTCTCATAAGAAACATTTACAGTCTGTTCTCTCTGAAGCCTGCTACTTGGAGGTTTCATTTACATCATAAAACTTTGGTCTCCACAACCCGCTATCATAACCCAGACATTCCTTTCTATTGATAATAACTCTTTCAACCAATTGCCAGTCAGAACTGTTTAAA... |
Task1_train_16261 | Here is a genetic alteration in NUMA1 (nuclear mitotic apparatus protein 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Myoepithelial tumor | GGCAACACAGAGATGATTCCCATGAGAAAGAGGCAGCCAGACCATGTGACCCCCACTCCCCCGCCCCCATCTGGTATAGACCCCTCCTGCTCCTTCACCCTCGGTCTTCCTGCTACAGACATCTCTATGCTGTGCTCGGGGTTAGAGCCCCAGAAAGTGATGGGCAAGTGTCCTAAGCCCACAATCCTCCCTAACCTGTGGGGGCTGCCTCGCATATCACCTTCAAGGCTTCCATAAAGCTGTACTCTGGGAAAAAGGGACACCATGTTAAACAAGGCCGACACGGTAATTCTGCTGTTCCTCTTAGTCGGGTATCCTTA... | GGCAACACAGAGATGATTCCCATGAGAAAGAGGCAGCCAGACCATGTGACCCCCACTCCCCCGCCCCCATCTGGTATAGACCCCTCCTGCTCCTTCACCCTCGGTCTTCCTGCTACAGACATCTCTATGCTGTGCTCGGGGTTAGAGCCCCAGAAAGTGATGGGCAAGTGTCCTAAGCCCACAATCCTCCCTAACCTGTGGGGGCTGCCTCGCATATCACCTTCAAGGCTTCCATAAAGCTGTACTCTGGGAAAAAGGGACACCATGTTAAACAAGGCCGACACGGTAATTCTGCTGTTCCTCTTAGTCGGGTATCCTTA... |
Task1_train_16262 | Gene LRTOMT, TOMT (leucine rich transmembrane and O-methyltransferase domain containing| transmembrane O-methyltransferase) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 63 | GTCCAAGTCCGTCCAAGATTGTATAGTGATCCATTTGTTGTTCATGAGCGTGTGATTGGGTGTTCACCAGCATGTATCAAATGTGCCACCCTCAAATCTTGTTTTGGCACATTACCCGTCTGACATAACAAGAGCCTGACACCTCTCCCACTGCATGTTCTGGGGTGAGGGGTGGAGGGGTCAGCAATGTGTTTCACTGGACATAGAGAAATAATGTAGTTTCCTGATTGATCTACTGGACTTTGTACATGCAGCCTGGTCTGCCTACTGTCTTTACTGTCTTCGAGACTCAGTACAATGTCCTCCTGATTACCTTCTCT... | GTCCAAGTCCGTCCAAGATTGTATAGTGATCCATTTGTTGTTCATGAGCGTGTGATTGGGTGTTCACCAGCATGTATCAAATGTGCCACCCTCAAATCTTGTTTTGGCACATTACCCGTCTGACATAACAAGAGCCTGACACCTCTCCCACTGCATGTTCTGGGGTGAGGGGTGGAGGGGTCAGCAATGTGTTTCACTGGACATAGAGAAATAATGTAGTTTCCTGATTGATCTACTGGACTTTGTACATGCAGCCTGGTCTGCCTACTGTCTTTACTGTCTTCGAGACTCAGTACAATGTCCTCCTGATTACCTTCTCT... |
Task1_train_16263 | Given this variant in gene LRTOMT, TOMT (leucine rich transmembrane and O-methyltransferase domain containing| transmembrane O-methyltransferase) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Rare genetic deafness | GTCCAAGTCCGTCCAAGATTGTATAGTGATCCATTTGTTGTTCATGAGCGTGTGATTGGGTGTTCACCAGCATGTATCAAATGTGCCACCCTCAAATCTTGTTTTGGCACATTACCCGTCTGACATAACAAGAGCCTGACACCTCTCCCACTGCATGTTCTGGGGTGAGGGGTGGAGGGGTCAGCAATGTGTTTCACTGGACATAGAGAAATAATGTAGTTTCCTGATTGATCTACTGGACTTTGTACATGCAGCCTGGTCTGCCTACTGTCTTTACTGTCTTCGAGACTCAGTACAATGTCCTCCTGATTACCTTCTCT... | GTCCAAGTCCGTCCAAGATTGTATAGTGATCCATTTGTTGTTCATGAGCGTGTGATTGGGTGTTCACCAGCATGTATCAAATGTGCCACCCTCAAATCTTGTTTTGGCACATTACCCGTCTGACATAACAAGAGCCTGACACCTCTCCCACTGCATGTTCTGGGGTGAGGGGTGGAGGGGTCAGCAATGTGTTTCACTGGACATAGAGAAATAATGTAGTTTCCTGATTGATCTACTGGACTTTGTACATGCAGCCTGGTCTGCCTACTGTCTTTACTGTCTTCGAGACTCAGTACAATGTCCTCCTGATTACCTTCTCT... |
Task1_train_16264 | Here’s a variant in LRTOMT, TOMT (leucine rich transmembrane and O-methyltransferase domain containing| transmembrane O-methyltransferase) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 63 | ATGTATCAAATGTGCCACCCTCAAATCTTGTTTTGGCACATTACCCGTCTGACATAACAAGAGCCTGACACCTCTCCCACTGCATGTTCTGGGGTGAGGGGTGGAGGGGTCAGCAATGTGTTTCACTGGACATAGAGAAATAATGTAGTTTCCTGATTGATCTACTGGACTTTGTACATGCAGCCTGGTCTGCCTACTGTCTTTACTGTCTTCGAGACTCAGTACAATGTCCTCCTGATTACCTTCTCTGACTCCATTCTCTGGACATGCCCAGCTCCCTATGCTTAATCCTCATCCAGTGTTAATTCATGCATTTATTG... | ATGTATCAAATGTGCCACCCTCAAATCTTGTTTTGGCACATTACCCGTCTGACATAACAAGAGCCTGACACCTCTCCCACTGCATGTTCTGGGGTGAGGGGTGGAGGGGTCAGCAATGTGTTTCACTGGACATAGAGAAATAATGTAGTTTCCTGATTGATCTACTGGACTTTGTACATGCAGCCTGGTCTGCCTACTGTCTTTACTGTCTTCGAGACTCAGTACAATGTCCTCCTGATTACCTTCTCTGACTCCATTCTCTGGACATGCCCAGCTCCCTATGCTTAATCCTCATCCAGTGTTAATTCATGCATTTATTG... |
Task1_train_16265 | Given this context: Chromosome 11, gene LRTOMT, TOMT (leucine rich transmembrane and O-methyltransferase domain containing| transmembrane O-methyltransferase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 63 | CACCCTCAAATCTTGTTTTGGCACATTACCCGTCTGACATAACAAGAGCCTGACACCTCTCCCACTGCATGTTCTGGGGTGAGGGGTGGAGGGGTCAGCAATGTGTTTCACTGGACATAGAGAAATAATGTAGTTTCCTGATTGATCTACTGGACTTTGTACATGCAGCCTGGTCTGCCTACTGTCTTTACTGTCTTCGAGACTCAGTACAATGTCCTCCTGATTACCTTCTCTGACTCCATTCTCTGGACATGCCCAGCTCCCTATGCTTAATCCTCATCCAGTGTTAATTCATGCATTTATTGAATCAACAAATATTT... | CACCCTCAAATCTTGTTTTGGCACATTACCCGTCTGACATAACAAGAGCCTGACACCTCTCCCACTGCATGTTCTGGGGTGAGGGGTGGAGGGGTCAGCAATGTGTTTCACTGGACATAGAGAAATAATGTAGTTTCCTGATTGATCTACTGGACTTTGTACATGCAGCCTGGTCTGCCTACTGTCTTTACTGTCTTCGAGACTCAGTACAATGTCCTCCTGATTACCTTCTCTGACTCCATTCTCTGGACATGCCCAGCTCCCTATGCTTAATCCTCATCCAGTGTTAATTCATGCATTTATTGAATCAACAAATATTT... |
Task1_train_16266 | This genomic variant is located on Chromosome 11, within the FOLR1 (folate receptor alpha) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cerebral folate transport deficiency | CAGTTGAGCCCAGGAGGCAGAGATTGTAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCTTGTCAAAAGAAAGAAAGAACGAAAAAAAGAAAGAAAGGAAGGAAGGAAGGGGAGGAAGGAAAGGGAGGGAGGAAAGGGAGGGAGGAAAGGGAGGGAGGCAAGGGAGAGAAACTTGTAATACGCATTTCTTTTTTTTTTTCTTGAGATAGAGTTTTGCTCTTGTTGCCCAGGGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCC... | CAGTTGAGCCCAGGAGGCAGAGATTGTAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCTTGTCAAAAGAAAGAAAGAACGAAAAAAAGAAAGAAAGGAAGGAAGGAAGGGGAGGAAGGAAAGGGAGGGAGGAAAGGGAGGGAGGAAAGGGAGGGAGGCAAGGGAGAGAAACTTGTAATACGCATTTCTTTTTTTTTTTCTTGAGATAGAGTTTTGCTCTTGTTGCCCAGGGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCC... |
Task1_train_16267 | Consider a variant on Chromosome 11 in gene INPPL1 (inositol polyphosphate phosphatase like 1). Determine its clinical classification and disease relevance. | Pathogenic; Opsismodysplasia | TGCCCCCGCGCTCTGGCTCCACCAGCATTTCTGCCCCCACTGGGCCCAGCAGTCCCCTGCCAGCTCCTGAGACTCCCACAGCTCCAGCTGCTGAGAGGTGAGACCCCCATCCCATCCACTGAACAGGAGACCCTTTCTCCTCTGAGAACTATTTCCCTACCAAAGGTGGGGAGGCCTTCTAAGACCCCACCAGGGACCCCCACCCCACCTCAGCCCAGAGGCAGATAACCTGATCCATCCCGCCCTGGTTGCCACAGGTACTATCTCCTCTAGGGATGGGGCAGAGGTGCTGGGACAGGTCAGCAGGACCTCCACTGACT... | TGCCCCCGCGCTCTGGCTCCACCAGCATTTCTGCCCCCACTGGGCCCAGCAGTCCCCTGCCAGCTCCTGAGACTCCCACAGCTCCAGCTGCTGAGAGGTGAGACCCCCATCCCATCCACTGAACAGGAGACCCTTTCTCCTCTGAGAACTATTTCCCTACCAAAGGTGGGGAGGCCTTCTAAGACCCCACCAGGGACCCCCACCCCACCTCAGCCCAGAGGCAGATAACCTGATCCATCCCGCCCTGGTTGCCACAGGTACTATCTCCTCTAGGGATGGGGCAGAGGTGCTGGGACAGGTCAGCAGGACCTCCACTGACT... |
Task1_train_16268 | A genetic alteration is present in INPPL1 (inositol polyphosphate phosphatase like 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Opsismodysplasia | AGACCCTGGACGAGGTCACAGTGACCATACCCCATGACATCTATGTCTTTGGGACCCAGGAGAACTCAGTGGGCGACCGCGAGTGGCTGGACCTACTGCGCGGGGGCCTCAAGGAGCTTACGGATCTGGATTACCGCCCGGTGAGGGGGGGTCATCTTGTCCAGGACCCTGTCCTCACACACCACCTCCAAACTAGCCTACTTGACTTCATGGGCAACCCTGGGAGCACAGCTTCACTGGCTTTTTCTCTGGTCCCTGAGCATATCCTTTGGGAGATCTGACCTGAGTCCTTCATGCCACGAGAGGAACCATTTCTCTCC... | AGACCCTGGACGAGGTCACAGTGACCATACCCCATGACATCTATGTCTTTGGGACCCAGGAGAACTCAGTGGGCGACCGCGAGTGGCTGGACCTACTGCGCGGGGGCCTCAAGGAGCTTACGGATCTGGATTACCGCCCGGTGAGGGGGGGTCATCTTGTCCAGGACCCTGTCCTCACACACCACCTCCAAACTAGCCTACTTGACTTCATGGGCAACCCTGGGAGCACAGCTTCACTGGCTTTTTCTCTGGTCCCTGAGCATATCCTTTGGGAGATCTGACCTGAGTCCTTCATGCCACGAGAGGAACCATTTCTCTCC... |
Task1_train_16269 | This sequence change occurs on Chromosome 11, altering INPPL1 (inositol polyphosphate phosphatase like 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Opsismodysplasia | GACCCTGGACGAGGTCACAGTGACCATACCCCATGACATCTATGTCTTTGGGACCCAGGAGAACTCAGTGGGCGACCGCGAGTGGCTGGACCTACTGCGCGGGGGCCTCAAGGAGCTTACGGATCTGGATTACCGCCCGGTGAGGGGGGGTCATCTTGTCCAGGACCCTGTCCTCACACACCACCTCCAAACTAGCCTACTTGACTTCATGGGCAACCCTGGGAGCACAGCTTCACTGGCTTTTTCTCTGGTCCCTGAGCATATCCTTTGGGAGATCTGACCTGAGTCCTTCATGCCACGAGAGGAACCATTTCTCTCCA... | GACCCTGGACGAGGTCACAGTGACCATACCCCATGACATCTATGTCTTTGGGACCCAGGAGAACTCAGTGGGCGACCGCGAGTGGCTGGACCTACTGCGCGGGGGCCTCAAGGAGCTTACGGATCTGGATTACCGCCCGGTGAGGGGGGGTCATCTTGTCCAGGACCCTGTCCTCACACACCACCTCCAAACTAGCCTACTTGACTTCATGGGCAACCCTGGGAGCACAGCTTCACTGGCTTTTTCTCTGGTCCCTGAGCATATCCTTTGGGAGATCTGACCTGAGTCCTTCATGCCACGAGAGGAACCATTTCTCTCCA... |
Task1_train_16270 | The gene INPPL1 (inositol polyphosphate phosphatase like 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Opsismodysplasia | GTCTATTTATAGTGCAGGGGGAAATGCAGGCAGTGGGTGCAGCAGGGCAGTGGTGACCATGCACTCTCTACCCAGATTGCCATGCAATCACTGTGGAATATCAAGGTGGCAGTGCTGGTCAAGCCAGAGCACGAGAACCGTATCAGCCATGTCAGTACGTCCAGTGTGAAGACTGGCATCGCCAACACCCTGGGTAAGTGGGGCTGGCAGGTGCCCAAGAGTGGCAGCGTCTCTCTGTCCATGGCTTCTGCTTCCTCTCAAGCCTAGGATTGCCCCATTTTTGGTGATCTTAGTTTCCCCATATATAGGGTACTTTGAAC... | GTCTATTTATAGTGCAGGGGGAAATGCAGGCAGTGGGTGCAGCAGGGCAGTGGTGACCATGCACTCTCTACCCAGATTGCCATGCAATCACTGTGGAATATCAAGGTGGCAGTGCTGGTCAAGCCAGAGCACGAGAACCGTATCAGCCATGTCAGTACGTCCAGTGTGAAGACTGGCATCGCCAACACCCTGGGTAAGTGGGGCTGGCAGGTGCCCAAGAGTGGCAGCGTCTCTCTGTCCATGGCTTCTGCTTCCTCTCAAGCCTAGGATTGCCCCATTTTTGGTGATCTTAGTTTCCCCATATATAGGGTACTTTGAAC... |
Task1_train_16271 | Here is a variant affecting INPPL1 (inositol polyphosphate phosphatase like 1) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Opsismodysplasia | AGCGTCTCTCTGTCCATGGCTTCTGCTTCCTCTCAAGCCTAGGATTGCCCCATTTTTGGTGATCTTAGTTTCCCCATATATAGGGTACTTTGAACTTTGAAAAACATATTCATATTCTAAATCTCTCCCAGCACCACTGGGAAGGCAAGGCCAGGATAATTACCCCCTTTTCACAGATGATAAAACTCAAACCCAGAGTGGTTGAGTGACCTGCCCAAGGTCACACAGCAAGTAAGTGGTGGAGCCAGGCATTGTGCCCAGGTCTCCTGATTTTCGGTCTGGTGCTCTCCCAGGTAGATTCTGCGCAGAATCTGCAGGGC... | AGCGTCTCTCTGTCCATGGCTTCTGCTTCCTCTCAAGCCTAGGATTGCCCCATTTTTGGTGATCTTAGTTTCCCCATATATAGGGTACTTTGAACTTTGAAAAACATATTCATATTCTAAATCTCTCCCAGCACCACTGGGAAGGCAAGGCCAGGATAATTACCCCCTTTTCACAGATGATAAAACTCAAACCCAGAGTGGTTGAGTGACCTGCCCAAGGTCACACAGCAAGTAAGTGGTGGAGCCAGGCATTGTGCCCAGGTCTCCTGATTTTCGGTCTGGTGCTCTCCCAGGTAGATTCTGCGCAGAATCTGCAGGGC... |
Task1_train_16272 | The variant affects gene CLPB (ClpB family mitochondrial disaggregase), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; 3-methylglutaconic aciduria, type VIIB | CCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACACCCGGCAATTTCCTGGTTTTGATAAACTACAGTATGGCTTTGTAGGATGTAATCATTGGGAGATGCTAGATGAAAGATACATGGGAATTTTCTACTATTTCTGCAACTTTCTCTAAGTCTAAAATTATTTCAAAACAAAAAGTAAAAAACAATGAAAAGCAGGCCGGGTCCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCAC... | CCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACACCCGGCAATTTCCTGGTTTTGATAAACTACAGTATGGCTTTGTAGGATGTAATCATTGGGAGATGCTAGATGAAAGATACATGGGAATTTTCTACTATTTCTGCAACTTTCTCTAAGTCTAAAATTATTTCAAAACAAAAAGTAAAAAACAATGAAAAGCAGGCCGGGTCCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCAC... |
Task1_train_16273 | This variant affects gene CLPB (ClpB family mitochondrial disaggregase) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; 3-methylglutaconic aciduria, type VIIB | CGAGATCGCGCCACTGCACTCCAGCTTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGCAGTCAGTGAGGTAGGGAGCAGCAGCCCCTGAGGGGTAGACAGTGATCCAAGCATCTGCTGGAGCTCACACCCTGGATTCTGACTGCCTCATACCCACCATACTGTTAGGACATGCTTCCATTACCCAAGGGACTTTGATTCCTGGCCCCATTCTCTGCTTCCTGAAAGACTAGCTAACACTACGCGAGGGTTCCATGAAGGGCCTGTGGGGGAAGGTGGGTGGACTGCTTATCAGCAGTGGC... | CGAGATCGCGCCACTGCACTCCAGCTTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGCAGTCAGTGAGGTAGGGAGCAGCAGCCCCTGAGGGGTAGACAGTGATCCAAGCATCTGCTGGAGCTCACACCCTGGATTCTGACTGCCTCATACCCACCATACTGTTAGGACATGCTTCCATTACCCAAGGGACTTTGATTCCTGGCCCCATTCTCTGCTTCCTGAAAGACTAGCTAACACTACGCGAGGGTTCCATGAAGGGCCTGTGGGGGAAGGTGGGTGGACTGCTTATCAGCAGTGGC... |
Task1_train_16274 | The gene CLPB (ClpB family mitochondrial disaggregase) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; 3-methylglutaconic aciduria, type VIIB | CGCCACTGCACTCCAGCTTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGCAGTCAGTGAGGTAGGGAGCAGCAGCCCCTGAGGGGTAGACAGTGATCCAAGCATCTGCTGGAGCTCACACCCTGGATTCTGACTGCCTCATACCCACCATACTGTTAGGACATGCTTCCATTACCCAAGGGACTTTGATTCCTGGCCCCATTCTCTGCTTCCTGAAAGACTAGCTAACACTACGCGAGGGTTCCATGAAGGGCCTGTGGGGGAAGGTGGGTGGACTGCTTATCAGCAGTGGCTACTGTAG... | CGCCACTGCACTCCAGCTTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGCAGTCAGTGAGGTAGGGAGCAGCAGCCCCTGAGGGGTAGACAGTGATCCAAGCATCTGCTGGAGCTCACACCCTGGATTCTGACTGCCTCATACCCACCATACTGTTAGGACATGCTTCCATTACCCAAGGGACTTTGATTCCTGGCCCCATTCTCTGCTTCCTGAAAGACTAGCTAACACTACGCGAGGGTTCCATGAAGGGCCTGTGGGGGAAGGTGGGTGGACTGCTTATCAGCAGTGGCTACTGTAG... |
Task1_train_16275 | This alteration occurs within gene CLPB (ClpB family mitochondrial disaggregase) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; 3-methylglutaconic aciduria, type VIIB | AGGTAGGGAGCAGCAGCCCCTGAGGGGTAGACAGTGATCCAAGCATCTGCTGGAGCTCACACCCTGGATTCTGACTGCCTCATACCCACCATACTGTTAGGACATGCTTCCATTACCCAAGGGACTTTGATTCCTGGCCCCATTCTCTGCTTCCTGAAAGACTAGCTAACACTACGCGAGGGTTCCATGAAGGGCCTGTGGGGGAAGGTGGGTGGACTGCTTATCAGCAGTGGCTACTGTAGATGGTGCCCAAGGATGCACCAGGCCTTACTGTGCCTGGCTAAGGTGGGCTTGAAACATTGGCTGGTCTGTGAAATGCC... | AGGTAGGGAGCAGCAGCCCCTGAGGGGTAGACAGTGATCCAAGCATCTGCTGGAGCTCACACCCTGGATTCTGACTGCCTCATACCCACCATACTGTTAGGACATGCTTCCATTACCCAAGGGACTTTGATTCCTGGCCCCATTCTCTGCTTCCTGAAAGACTAGCTAACACTACGCGAGGGTTCCATGAAGGGCCTGTGGGGGAAGGTGGGTGGACTGCTTATCAGCAGTGGCTACTGTAGATGGTGCCCAAGGATGCACCAGGCCTTACTGTGCCTGGCTAAGGTGGGCTTGAAACATTGGCTGGTCTGTGAAATGCC... |
Task1_train_16276 | This is a variant in CLPB (ClpB family mitochondrial disaggregase), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Neutropenia, severe congenital, 9, autosomal dominant | GCTTGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCC... | GCTTGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCC... |
Task1_train_16277 | A mutation on Chromosome 11 affecting CLPB (ClpB family mitochondrial disaggregase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; 3-Methylglutaconic aciduria | TGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGG... | TGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGG... |
Task1_train_16278 | This mutation is located in gene CLPB (ClpB family mitochondrial disaggregase) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Myeloid maturation arrest | TGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGG... | TGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGG... |
Task1_train_16279 | This alteration in CLPB (ClpB family mitochondrial disaggregase) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; 3-Methylglutaric aciduria | TGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGG... | TGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGG... |
Task1_train_16280 | Mutation context: Chromosome 11, Gene CLPB (ClpB family mitochondrial disaggregase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Microcytic anemia | TGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGG... | TGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGG... |
Task1_train_16281 | This gene mutation involves CLPB, LOC126861258 (ClpB family mitochondrial disaggregase| MED14-independent group 3 enhancer GRCh37_chr11:72012242-72013441) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; 3-methylglutaconic aciduria, type VIIB | GGAGACAGGGCTTCCATGTATGGCTGATTGTACTTCAGTCAGCAGTTGCCTTCTGTTTTTTGGGCCAAGAATGCCATCAGAGGTGCCTCTCCAGGGAGACCAGAGATCAAACAGGCCGCGATGCTCACCCTCCCTCAGCGGCATGGTCCCGTCCCTTGCGTGCTTCACTGAGACGGACCTCGCTCTTTTGGCCCTAGCTGCGTGGCAGTCATTCAAGCTGCAGGATCTAGAACTGGGCTGCCTGGGTTTGAATCCTTGATTCTCTCTCCCCAGCTGCATGACCACAGGTAAATGACTTAATCTTACTTTGCTTCAGTTTC... | GGAGACAGGGCTTCCATGTATGGCTGATTGTACTTCAGTCAGCAGTTGCCTTCTGTTTTTTGGGCCAAGAATGCCATCAGAGGTGCCTCTCCAGGGAGACCAGAGATCAAACAGGCCGCGATGCTCACCCTCCCTCAGCGGCATGGTCCCGTCCCTTGCGTGCTTCACTGAGACGGACCTCGCTCTTTTGGCCCTAGCTGCGTGGCAGTCATTCAAGCTGCAGGATCTAGAACTGGGCTGCCTGGGTTTGAATCCTTGATTCTCTCTCCCCAGCTGCATGACCACAGGTAAATGACTTAATCTTACTTTGCTTCAGTTTC... |
Task1_train_16282 | This variant lies on Chromosome 11 and affects the gene CLPB (ClpB family mitochondrial disaggregase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Neutropenia, severe congenital, 9, autosomal dominant | GTTGAGAGACTGGATTGATTCTGGTTTTATTTCTTCCCCTAATAGGTGACCTTAGATAAGCCTAAGAATGCTGTAGGGCCTCAGTTTTCTCATCTGAAAAGTGGGTCTAATTTAGCATCCATGCTATCTTCCCCATAGGATCAAATGGGAGAGTAGATGGGGCACTGCTATGGTAAGTAGGAAGTGACGAATAAATACAAGTCAAGGAATAGGCACTTGCTGTGTGCTCACCATGATGTGATGACATAAGTGATGAGCACACAGCATCGTCACTTGATGCTCACCATAACCTAAGATATGGGTTGGAGGGCTTTCACCTT... | GTTGAGAGACTGGATTGATTCTGGTTTTATTTCTTCCCCTAATAGGTGACCTTAGATAAGCCTAAGAATGCTGTAGGGCCTCAGTTTTCTCATCTGAAAAGTGGGTCTAATTTAGCATCCATGCTATCTTCCCCATAGGATCAAATGGGAGAGTAGATGGGGCACTGCTATGGTAAGTAGGAAGTGACGAATAAATACAAGTCAAGGAATAGGCACTTGCTGTGTGCTCACCATGATGTGATGACATAAGTGATGAGCACACAGCATCGTCACTTGATGCTCACCATAACCTAAGATATGGGTTGGAGGGCTTTCACCTT... |
Task1_train_16283 | This alteration occurs within gene CLPB (ClpB family mitochondrial disaggregase) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; 3-methylglutaconic aciduria, type VIIB | GATTTTAAGGCACGGCAGAGATAATGTCCTTGGTGAACACTCCAATTCTTAGCTACAAATGTCTTGCCACAGAGTTTTCCAACGGACAAAGGAAGAAGCTTTCTGCTTGGGGATGTTTTCTAAGTCTCTGCTTCTGAGAACAGCAAGTTCTCGCTCCAGAAGCATCAGTCATCCCAAGAACTGCTGCCACATCCACAAGTAGTCCTGCCCTTCAGTGGCTGTGCCCTAGAACAAAGCATATTCTGGCTGCTCTGGGGCAGGTCCCTTGTAGGCTTGGGGATACAGGCCAGGCCTGGGTTTTAAGCTAGCATGGCTGTGGC... | GATTTTAAGGCACGGCAGAGATAATGTCCTTGGTGAACACTCCAATTCTTAGCTACAAATGTCTTGCCACAGAGTTTTCCAACGGACAAAGGAAGAAGCTTTCTGCTTGGGGATGTTTTCTAAGTCTCTGCTTCTGAGAACAGCAAGTTCTCGCTCCAGAAGCATCAGTCATCCCAAGAACTGCTGCCACATCCACAAGTAGTCCTGCCCTTCAGTGGCTGTGCCCTAGAACAAAGCATATTCTGGCTGCTCTGGGGCAGGTCCCTTGTAGGCTTGGGGATACAGGCCAGGCCTGGGTTTTAAGCTAGCATGGCTGTGGC... |
Task1_train_16284 | The gene PDE2A (phosphodiesterase 2A) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Intellectual developmental disorder with paroxysmal dyskinesia or seizures | CTTCACCCCATCTGGTGTCTTCACCCTCAAATTCCCATGGCAGGTGGGGGATCCGTCACCCAGAATGTACCACAGTTGGGCCACCACGCTGTGGACTGTAACTGGGCAGGAAATCACCACCCTCCCCTCACAGCCCTGCAGCCCACCCCGCGCGCCTCCCTGCAGGTGACCACCCTTTATCTGTAACAGCATAACCTTGGCAAAGATCGACAACACCCCTTCATGACACCCCCTAACCATGGCAGCATTTCATACACAGTAACTGTAGCAGTCCTCCTTTTGTGGAGACCTTTCTACTCTCTAACCTTAACTCTTCCTAC... | CTTCACCCCATCTGGTGTCTTCACCCTCAAATTCCCATGGCAGGTGGGGGATCCGTCACCCAGAATGTACCACAGTTGGGCCACCACGCTGTGGACTGTAACTGGGCAGGAAATCACCACCCTCCCCTCACAGCCCTGCAGCCCACCCCGCGCGCCTCCCTGCAGGTGACCACCCTTTATCTGTAACAGCATAACCTTGGCAAAGATCGACAACACCCCTTCATGACACCCCCTAACCATGGCAGCATTTCATACACAGTAACTGTAGCAGTCCTCCTTTTGTGGAGACCTTTCTACTCTCTAACCTTAACTCTTCCTAC... |
Task1_train_16285 | A variant was discovered on Chromosome 11, affecting PDE2A (phosphodiesterase 2A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Intellectual developmental disorder with paroxysmal dyskinesia or seizures | TGAAAACTCCTGGCAGCCAGAGCCCAGCTGGCTAGCATCCTGCTCAACAGCATGCACCCCTACTTCAGCTTCCCCAGGACCACACTCTCCCCTCAGCACACCACCCCTTCCCCCGGCCTCCTTCCTGCCTTGCTCACATTCCTCCTCTGCCTAGAATCCCCTTTCCCTTCTTCCCTGCCTGTGGACCTCCTACCTGTGCCCCAAGGCCCCACACAAATGCTTTCTCTGTGATGAGGTACCACTTGCTGCTCCAGGCTTTGCCACCAGAACACCTGCTGGCAACAGTATTTCATCTGGCCTGTGGTGGGGAGGGTGTCCCT... | TGAAAACTCCTGGCAGCCAGAGCCCAGCTGGCTAGCATCCTGCTCAACAGCATGCACCCCTACTTCAGCTTCCCCAGGACCACACTCTCCCCTCAGCACACCACCCCTTCCCCCGGCCTCCTTCCTGCCTTGCTCACATTCCTCCTCTGCCTAGAATCCCCTTTCCCTTCTTCCCTGCCTGTGGACCTCCTACCTGTGCCCCAAGGCCCCACACAAATGCTTTCTCTGTGATGAGGTACCACTTGCTGCTCCAGGCTTTGCCACCAGAACACCTGCTGGCAACAGTATTTCATCTGGCCTGTGGTGGGGAGGGTGTCCCT... |
Task1_train_16286 | A variant affecting Chromosome 11, within the gene RELT (RELT TNF receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Amelogenesis imperfecta, type 3C | ACCCTGTCATCACGGACACAGGCCGCCACACGCGCTTCCTTCCCCTGCTGATGCCTCGGGGCACCTGGCAGTTTAAGGAAGGGGAAGGAAGCCCTTCCTCCTCTGGGAAGCCTCCCAGCCTGCAGAGCCTTCTTCCTGCCTTCCTGCCTGTGCTGCCCCGTGAGGCCGGCTCCCAGGCAGGGCAGCCCCCTCTGCTTGGGCCTGTGCTTGCGGGTGTGGAGCCGGCCTCCCCGGGCTCTGCCTGCCCAGCAGCACCTTGCCTGCTCCCCATGAGTCCTGTCATCCTGGAAGTGGTGCTGAGGGGACAGCAGCTGCCTGCC... | ACCCTGTCATCACGGACACAGGCCGCCACACGCGCTTCCTTCCCCTGCTGATGCCTCGGGGCACCTGGCAGTTTAAGGAAGGGGAAGGAAGCCCTTCCTCCTCTGGGAAGCCTCCCAGCCTGCAGAGCCTTCTTCCTGCCTTCCTGCCTGTGCTGCCCCGTGAGGCCGGCTCCCAGGCAGGGCAGCCCCCTCTGCTTGGGCCTGTGCTTGCGGGTGTGGAGCCGGCCTCCCCGGGCTCTGCCTGCCCAGCAGCACCTTGCCTGCTCCCCATGAGTCCTGTCATCCTGGAAGTGGTGCTGAGGGGACAGCAGCTGCCTGCC... |
Task1_train_16287 | Consider this mutation in RELT (RELT TNF receptor) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Amelogenesis imperfecta, type 3C | TTGTTACATAGGGCACAGTAGAGAGGCCATGGAATAGCAGTTTGCTGTAGATTTGGGGAGTTCTGGGTAGGGTGGCAGCCCACAGCTCCTTGAGGCTGAGGAGGAGACAGTGCAGACCCAGAAGACGCTGACGCACCGCCCCCTCGCCCGCCCAATTCAATGACTGGAGTTCACGTGGCCCTGAAGCCTCTATGCACCCGGGCTGTTGGGTGCAGGAAGCACTGGTGTTGAATCATGAAGGTGATATGGGCTTCTCTGAGCCTGGATCCCACATTTGCAGGGCTCTGGGAGGCTTGTCACCTAAATGCACATGCTCAGGG... | TTGTTACATAGGGCACAGTAGAGAGGCCATGGAATAGCAGTTTGCTGTAGATTTGGGGAGTTCTGGGTAGGGTGGCAGCCCACAGCTCCTTGAGGCTGAGGAGGAGACAGTGCAGACCCAGAAGACGCTGACGCACCGCCCCCTCGCCCGCCCAATTCAATGACTGGAGTTCACGTGGCCCTGAAGCCTCTATGCACCCGGGCTGTTGGGTGCAGGAAGCACTGGTGTTGAATCATGAAGGTGATATGGGCTTCTCTGAGCCTGGATCCCACATTTGCAGGGCTCTGGGAGGCTTGTCACCTAAATGCACATGCTCAGGG... |
Task1_train_16288 | Gene DNAJB13 (DnaJ heat shock protein family (Hsp40) member B13) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Primary ciliary dyskinesia 34 | GAGACCTCAGCAGAGTTTTGGTGACTTAATGAAGTTTGGGACAGGGGTGTCATGCCTGGAGTTACTAGCAAGACAGAGACATACGGGCAGTTGCCTGACGCCCAGCTTAGTGTTCCACCTGCCTGCCGTCTGAGGAAGCCTCTCCGCCCCTCCAGCTGAGTGTGTCTATTTTGGGCATGCTCAGTACAGAAGTAATTCTGGGGGGATTCATTTGGGTAAGCTTCTCGGGCTTCTAATCCATCTGGGCTATGGGGGCCAAACTGAAAAGGCCCTTCCAGAAAACCTGCTCTCATCTCCCCATTGTACAGATGAAGACATGG... | GAGACCTCAGCAGAGTTTTGGTGACTTAATGAAGTTTGGGACAGGGGTGTCATGCCTGGAGTTACTAGCAAGACAGAGACATACGGGCAGTTGCCTGACGCCCAGCTTAGTGTTCCACCTGCCTGCCGTCTGAGGAAGCCTCTCCGCCCCTCCAGCTGAGTGTGTCTATTTTGGGCATGCTCAGTACAGAAGTAATTCTGGGGGGATTCATTTGGGTAAGCTTCTCGGGCTTCTAATCCATCTGGGCTATGGGGGCCAAACTGAAAAGGCCCTTCCAGAAAACCTGCTCTCATCTCCCCATTGTACAGATGAAGACATGG... |
Task1_train_16289 | This genomic variant is located on Chromosome 11, within the UCP3 (uncoupling protein 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Inherited obesity | GCTTAAAGCTATATAGTGAGAGGTGGTGCTGGGACTGGAACCCAAGTCTCCAGCCTCCCAGCCCAGGGGTCTTTCCTGCTTGTCACCACAATGTACCTGGCACTTTTTACTAGGCACTGCTTCTCTCTCTGCTCCTTCTAAAACCCAGTTGCCTCTGGGTGGTGCCCACTCCACGGAGTTCTGGGTTCCCTCCCTGCTGAGGGAGAGCTGCCTGCCTGGAGCCCAGGGCCTCACCAGTGAGCAGGTGGTAGTCCAGCAGCTTCTCCTTGAGGATGTCGTAGGTCACCACCTCAGCACAGTTGACGATAGCATTCCTCATG... | GCTTAAAGCTATATAGTGAGAGGTGGTGCTGGGACTGGAACCCAAGTCTCCAGCCTCCCAGCCCAGGGGTCTTTCCTGCTTGTCACCACAATGTACCTGGCACTTTTTACTAGGCACTGCTTCTCTCTCTGCTCCTTCTAAAACCCAGTTGCCTCTGGGTGGTGCCCACTCCACGGAGTTCTGGGTTCCCTCCCTGCTGAGGGAGAGCTGCCTGCCTGGAGCCCAGGGCCTCACCAGTGAGCAGGTGGTAGTCCAGCAGCTTCTCCTTGAGGATGTCGTAGGTCACCACCTCAGCACAGTTGACGATAGCATTCCTCATG... |
Task1_train_16290 | A variant has been detected on Chromosome 11 in C2CD3 (C2 domain containing 3 centriole elongation regulator). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Orofaciodigital syndrome type 14 | AGTATTTTCCTGGAAATCTTCCAATGTCTGTAACATTGAGTGGATTTATATTTTATAATATAAATCAAATATAATAATTTATATATTTGTTATATATAAATTATATTATTAAATTATATTTATAAAATAAATATAAATGTTCCTCTGGTGGTGGGAAGAACAGGTTACAAGAAATGAGTTTATAAGTAGGAGGCCAGTTAGGAGGCTACCACAGTCATTTAGGCAAGATATGAAAAGGGCCTGAACTAAATAAGGCAGTAAGGGACGCACAAAAAAGGTGATTGATATGTTTAATACATAATAGGAGGTAAAATAAATAA... | AGTATTTTCCTGGAAATCTTCCAATGTCTGTAACATTGAGTGGATTTATATTTTATAATATAAATCAAATATAATAATTTATATATTTGTTATATATAAATTATATTATTAAATTATATTTATAAAATAAATATAAATGTTCCTCTGGTGGTGGGAAGAACAGGTTACAAGAAATGAGTTTATAAGTAGGAGGCCAGTTAGGAGGCTACCACAGTCATTTAGGCAAGATATGAAAAGGGCCTGAACTAAATAAGGCAGTAAGGGACGCACAAAAAAGGTGATTGATATGTTTAATACATAATAGGAGGTAAAATAAATAA... |
Task1_train_16291 | This alteration occurs within gene C2CD3 (C2 domain containing 3 centriole elongation regulator) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | TAACTAGAATTATGAAATTTGGGTGCTGGCACATTTGATGTTTTAACTCTTTCAATTTACTGGTGGGAAAATTAAGGCCCAAGAAGATGAAATGGCTTGCTCAAAGTCAAACAGCAAGAGCATAGAGTAGAAGCAGGATTCTGGCTTCTTAATAACATAAGATTAGCCCTTATTAACTTCCTAGAATATTCATATGATATTACTATATGTGTCAAGTAATCAGACATTTAATTATATACTGTCTGGCATTGCTCAATACTGTTTCATGTATGTCAGTTTTGTTTTCAACTAATCTTTAAGTTCCTTTTGGGCAGGGAATA... | TAACTAGAATTATGAAATTTGGGTGCTGGCACATTTGATGTTTTAACTCTTTCAATTTACTGGTGGGAAAATTAAGGCCCAAGAAGATGAAATGGCTTGCTCAAAGTCAAACAGCAAGAGCATAGAGTAGAAGCAGGATTCTGGCTTCTTAATAACATAAGATTAGCCCTTATTAACTTCCTAGAATATTCATATGATATTACTATATGTGTCAAGTAATCAGACATTTAATTATATACTGTCTGGCATTGCTCAATACTGTTTCATGTATGTCAGTTTTGTTTTCAACTAATCTTTAAGTTCCTTTTGGGCAGGGAATA... |
Task1_train_16292 | With a mutation on Chromosome 11 in gene SERPINH1 (serpin family H member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Osteogenesis imperfecta type 10 | GTAGTGCCCATTTTACTCTTATAAGTGTCCTTGTTTGTGCAATAAATTATATGGTTGCTCTGCCTTTGAGGCTCCAGTTCTGGCAGGGAAGGAGCCAGAGCTGGGAGGGAGGTGTCTTGGGGTTTATTCTAGGCCCCAAGATATCCCCTTCATTTTAGGGTGAGACTCAGATCTCCCCGCTCCTTCCAGACATTTTTAGATCTCTGGGCCTTCCCTCCTCTCCCCACCTCCCTCCCCTTGGACCCTTTGCTTATCTTATACTGCACCTTCAAGGCTCCGAGGAGGGAGGCAGTCCCGGGAGATGGGGAGCCTGTCCAGGT... | GTAGTGCCCATTTTACTCTTATAAGTGTCCTTGTTTGTGCAATAAATTATATGGTTGCTCTGCCTTTGAGGCTCCAGTTCTGGCAGGGAAGGAGCCAGAGCTGGGAGGGAGGTGTCTTGGGGTTTATTCTAGGCCCCAAGATATCCCCTTCATTTTAGGGTGAGACTCAGATCTCCCCGCTCCTTCCAGACATTTTTAGATCTCTGGGCCTTCCCTCCTCTCCCCACCTCCCTCCCCTTGGACCCTTTGCTTATCTTATACTGCACCTTCAAGGCTCCGAGGAGGGAGGCAGTCCCGGGAGATGGGGAGCCTGTCCAGGT... |
Task1_train_16293 | The gene CAPN5 (calpain 5) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | GGGAACCCTGGGGAAGAGTGACTCGCGCAGGCCGTTGCAGGGCAGGGATACGCCTAGGCCAGGAGGGAGGAGGGAGGAGGGGCAGTGGGGTCAGAGGCCAGCCTCGCCAGCTCTAGGTGAGCCACTCTCTGGTTCCTCCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGC... | GGGAACCCTGGGGAAGAGTGACTCGCGCAGGCCGTTGCAGGGCAGGGATACGCCTAGGCCAGGAGGGAGGAGGGAGGAGGGGCAGTGGGGTCAGAGGCCAGCCTCGCCAGCTCTAGGTGAGCCACTCTCTGGTTCCTCCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGC... |
Task1_train_16294 | Chromosome 11 houses a mutation in gene CAPN5 (calpain 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | AACCCTGGGGAAGAGTGACTCGCGCAGGCCGTTGCAGGGCAGGGATACGCCTAGGCCAGGAGGGAGGAGGGAGGAGGGGCAGTGGGGTCAGAGGCCAGCCTCGCCAGCTCTAGGTGAGCCACTCTCTGGTTCCTCCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGCCAG... | AACCCTGGGGAAGAGTGACTCGCGCAGGCCGTTGCAGGGCAGGGATACGCCTAGGCCAGGAGGGAGGAGGGAGGAGGGGCAGTGGGGTCAGAGGCCAGCCTCGCCAGCTCTAGGTGAGCCACTCTCTGGTTCCTCCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGCCAG... |
Task1_train_16295 | Chromosome 11 houses a mutation in gene CAPN5 (calpain 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Proliferative vitreoretinopathy | TCGCGCAGGCCGTTGCAGGGCAGGGATACGCCTAGGCCAGGAGGGAGGAGGGAGGAGGGGCAGTGGGGTCAGAGGCCAGCCTCGCCAGCTCTAGGTGAGCCACTCTCTGGTTCCTCCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGCCAGCCCCCTGGTGGCCACTGAG... | TCGCGCAGGCCGTTGCAGGGCAGGGATACGCCTAGGCCAGGAGGGAGGAGGGAGGAGGGGCAGTGGGGTCAGAGGCCAGCCTCGCCAGCTCTAGGTGAGCCACTCTCTGGTTCCTCCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGCCAGCCCCCTGGTGGCCACTGAG... |
Task1_train_16296 | A variant on Chromosome 11 in gene CAPN5 (calpain 5) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Inborn genetic diseases | CCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGCCAGCCCCCTGGTGGCCACTGAGTCTCCACCACCTGGATGCAGGTCGACCCAGTGGCCTTGGTTGTTTTTTGTTTTTTGAAAAAACACAGTTTCATTGTGGTAAAATAGACAAAACATAATGCTTCTCATTTTAACCA... | CCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGCCAGCCCCCTGGTGGCCACTGAGTCTCCACCACCTGGATGCAGGTCGACCCAGTGGCCTTGGTTGTTTTTTGTTTTTTGAAAAAACACAGTTTCATTGTGGTAAAATAGACAAAACATAATGCTTCTCATTTTAACCA... |
Task1_train_16297 | Mutation context: Chromosome 11, Gene CAPN5 (calpain 5). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Proliferative vitreoretinopathy | CCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGCCAGCCCCCTGGTGGCCACTGAGTCTCCACCACCTGGATGCAGGTCGACCCAGTGGCCTTGGTTGTTTTTTGTTTTTTGAAAAAACACAGTTTCATTGTGGTAAAATAGACAAAACATAATGCTTCTCATTTTAACCA... | CCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGCCAGCCCCCTGGTGGCCACTGAGTCTCCACCACCTGGATGCAGGTCGACCCAGTGGCCTTGGTTGTTTTTTGTTTTTTGAAAAAACACAGTTTCATTGTGGTAAAATAGACAAAACATAATGCTTCTCATTTTAACCA... |
Task1_train_16298 | Mutation context: Chromosome 11, Gene MYO7A (myosin VIIA). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | GCTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTT... | GCTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTT... |
Task1_train_16299 | The gene MYO7A (myosin VIIA), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 2 | CTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTT... | CTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTT... |
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