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_26100 | Gene DCC (DCC netrin 1 receptor) on Chromosome 18 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Carcinoma of colon | ATACAGTATTTTAAGTCAATGCTGGAGTTGATTAAAGTCTTACTTTTCCCTTTAAATTCCAAGTCAGTTATGAGAAACAATGATAAAAAATGAGCTTTTATCCCCAGATTTATAGTCCTTGAACTAGATTTCATGTTCATTTATGTTGCTTCCTCAAAAAACCCATGTAAATTGGATGGGCTAGGTCAACAAGCTAGTGATCATCCTTCATTTGCTCCATGGAGTTAGACAGATGTTGGTGCAAAATTCTTACACCGCCTGCCCATTCCTAAATGTGCGAACTTAGGCAAGTTACTTATTTTGTCTTTATTTTGGCACCC... | ATACAGTATTTTAAGTCAATGCTGGAGTTGATTAAAGTCTTACTTTTCCCTTTAAATTCCAAGTCAGTTATGAGAAACAATGATAAAAAATGAGCTTTTATCCCCAGATTTATAGTCCTTGAACTAGATTTCATGTTCATTTATGTTGCTTCCTCAAAAAACCCATGTAAATTGGATGGGCTAGGTCAACAAGCTAGTGATCATCCTTCATTTGCTCCATGGAGTTAGACAGATGTTGGTGCAAAATTCTTACACCGCCTGCCCATTCCTAAATGTGCGAACTTAGGCAAGTTACTTATTTTGTCTTTATTTTGGCACCC... |
Task1_train_26101 | This gene mutation involves TCF4 (transcription factor 4) on Chromosome 18. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | GAAACGCCTCACTGCACACTACTTCGGCTACACAGGTAGGTAACACTTTAATCATTTTGTTAAATCACAGCCACTTTGATTATGTTATGTTTCCGATGATATAAACATTGGAAGGCACAGTGGTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGC... | GAAACGCCTCACTGCACACTACTTCGGCTACACAGGTAGGTAACACTTTAATCATTTTGTTAAATCACAGCCACTTTGATTATGTTATGTTTCCGATGATATAAACATTGGAAGGCACAGTGGTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGC... |
Task1_train_26102 | The variant affects gene TCF4 (transcription factor 4), which is on Chromosome 18. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Pitt-Hopkins syndrome | TCACTGCACACTACTTCGGCTACACAGGTAGGTAACACTTTAATCATTTTGTTAAATCACAGCCACTTTGATTATGTTATGTTTCCGATGATATAAACATTGGAAGGCACAGTGGTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAG... | TCACTGCACACTACTTCGGCTACACAGGTAGGTAACACTTTAATCATTTTGTTAAATCACAGCCACTTTGATTATGTTATGTTTCCGATGATATAAACATTGGAAGGCACAGTGGTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAG... |
Task1_train_26103 | This gene mutation involves TCF4 (transcription factor 4) on Chromosome 18. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | ACTACTTCGGCTACACAGGTAGGTAACACTTTAATCATTTTGTTAAATCACAGCCACTTTGATTATGTTATGTTTCCGATGATATAAACATTGGAAGGCACAGTGGTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCAT... | ACTACTTCGGCTACACAGGTAGGTAACACTTTAATCATTTTGTTAAATCACAGCCACTTTGATTATGTTATGTTTCCGATGATATAAACATTGGAAGGCACAGTGGTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCAT... |
Task1_train_26104 | With a mutation on Chromosome 18 in gene TCF4 (transcription factor 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | CTACTTCGGCTACACAGGTAGGTAACACTTTAATCATTTTGTTAAATCACAGCCACTTTGATTATGTTATGTTTCCGATGATATAAACATTGGAAGGCACAGTGGTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCATT... | CTACTTCGGCTACACAGGTAGGTAACACTTTAATCATTTTGTTAAATCACAGCCACTTTGATTATGTTATGTTTCCGATGATATAAACATTGGAAGGCACAGTGGTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCATT... |
Task1_train_26105 | Here’s a variant in TCF4 (transcription factor 4) located on Chromosome 18. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Pitt-Hopkins syndrome | GAAGGCACAGTGGTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCATTTCATCCTGCACTACCCCTCTGGAAGCAGAGTTGGCACTACAGGTTACGATAACAAACCAGGGAAAGGGACAGAAATAAGACCAAAAAAAAAA... | GAAGGCACAGTGGTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCATTTCATCCTGCACTACCCCTCTGGAAGCAGAGTTGGCACTACAGGTTACGATAACAAACCAGGGAAAGGGACAGAAATAAGACCAAAAAAAAAA... |
Task1_train_26106 | This variant impacts the gene TCF4 (transcription factor 4) on Chromosome 18. Is the change likely to result in a pathogenic outcome? | Pathogenic; Pitt-Hopkins syndrome | AAGGCACAGTGGTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCATTTCATCCTGCACTACCCCTCTGGAAGCAGAGTTGGCACTACAGGTTACGATAACAAACCAGGGAAAGGGACAGAAATAAGACCAAAAAAAAAAA... | AAGGCACAGTGGTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCATTTCATCCTGCACTACCCCTCTGGAAGCAGAGTTGGCACTACAGGTTACGATAACAAACCAGGGAAAGGGACAGAAATAAGACCAAAAAAAAAAA... |
Task1_train_26107 | A variant affecting Chromosome 18, within the gene TCF4 (transcription factor 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Pitt-Hopkins syndrome | ACAGTGGTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCATTTCATCCTGCACTACCCCTCTGGAAGCAGAGTTGGCACTACAGGTTACGATAACAAACCAGGGAAAGGGACAGAAATAAGACCAAAAAAAAAAAAATCC... | ACAGTGGTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCATTTCATCCTGCACTACCCCTCTGGAAGCAGAGTTGGCACTACAGGTTACGATAACAAACCAGGGAAAGGGACAGAAATAAGACCAAAAAAAAAAAAATCC... |
Task1_train_26108 | This sequence variant lies in TCF4 (transcription factor 4) on Chromosome 18. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Pitt-Hopkins syndrome | ACAGTGGTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCATTTCATCCTGCACTACCCCTCTGGAAGCAGAGTTGGCACTACAGGTTACGATAACAAACCAGGGAAAGGGACAGAAATAAGACCAAAAAAAAAAAAATCC... | ACAGTGGTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCATTTCATCCTGCACTACCCCTCTGGAAGCAGAGTTGGCACTACAGGTTACGATAACAAACCAGGGAAAGGGACAGAAATAAGACCAAAAAAAAAAAAATCC... |
Task1_train_26109 | The variant affects gene TCF4 (transcription factor 4), which is on Chromosome 18. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Pitt-Hopkins syndrome | GTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCATTTCATCCTGCACTACCCCTCTGGAAGCAGAGTTGGCACTACAGGTTACGATAACAAACCAGGGAAAGGGACAGAAATAAGACCAAAAAAAAAAAAATCCATATTT... | GTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCATTTCATCCTGCACTACCCCTCTGGAAGCAGAGTTGGCACTACAGGTTACGATAACAAACCAGGGAAAGGGACAGAAATAAGACCAAAAAAAAAAAAATCCATATTT... |
Task1_train_26110 | This alteration occurs within gene TCF4 (transcription factor 4) located on Chromosome 18. Is it associated with a disease or is it a benign variant? | Pathogenic; Developmental disorder | AGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCATTTCATCCTGCACTACCCCTCTGGAAGCAGAGTTGGCACTACAGGTTACGATAACAAACCAGGGAAAGGGACAGAAATAAGACCAAAAAAAAAAAAATCCATATTTACAGTAAAAT... | AGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCATTTCATCCTGCACTACCCCTCTGGAAGCAGAGTTGGCACTACAGGTTACGATAACAAACCAGGGAAAGGGACAGAAATAAGACCAAAAAAAAAAAAATCCATATTTACAGTAAAAT... |
Task1_train_26111 | The following genetic variant occurs in TCF4 (transcription factor 4) on Chromosome 18. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Pitt-Hopkins syndrome | TACTGTTACCTAGATCTTGACCTAGTAATTGATTTGATATCCTTCTTGTCGTCATCTAATTTCTTGTCCTCCGAAGATTTCGTGTCTTGCAGGTTCTCATCACCCTCGTCATCGGATTTGATCTCAGAGCTGCCAGAGGAGACACTCTGCCCCTGTAGTCCTGGTGGCATGCCTGCCGAAAAAGAGAAATCAGGTGACATGTACACCACAATCTCACTGCCTGCACACCAGATTGCAAGGCTGCCAGCAGACAATTCATACTGCTGAACTGTGATCCTTCTGTCACTTTTTTTTCCCCCTGCTATCTGTTGAAGTTTCAA... | TACTGTTACCTAGATCTTGACCTAGTAATTGATTTGATATCCTTCTTGTCGTCATCTAATTTCTTGTCCTCCGAAGATTTCGTGTCTTGCAGGTTCTCATCACCCTCGTCATCGGATTTGATCTCAGAGCTGCCAGAGGAGACACTCTGCCCCTGTAGTCCTGGTGGCATGCCTGCCGAAAAAGAGAAATCAGGTGACATGTACACCACAATCTCACTGCCTGCACACCAGATTGCAAGGCTGCCAGCAGACAATTCATACTGCTGAACTGTGATCCTTCTGTCACTTTTTTTTCCCCCTGCTATCTGTTGAAGTTTCAA... |
Task1_train_26112 | Here is a genetic alteration in TCF4 (transcription factor 4) on Chromosome 18. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Pitt-Hopkins syndrome | GTCAATATACAGCAATGACTAAAAGTTTCTTCTGAAGAAAATAATTTTTTTATGATTCATTAAACTTGAAGGTAAAAAAAGATTGCTGTTAGAATACATATTACATGTCTAACCTACAAAATAAAAAACACTTTAAATGTAAAATAATACACATTCAGTGTAGAAAACTTGGAAAATACATAATTCAAAAAAGGAAAAAATAATAGCTATGATCTCACTGAAATCTCATGCCCCGACACTGTTAGCACTTTTAAAATCCACTCTTCCTGTCTTTTCTGGGTGTGCATGTATATTTTTATGCTAAATAAAAATAGAATATT... | GTCAATATACAGCAATGACTAAAAGTTTCTTCTGAAGAAAATAATTTTTTTATGATTCATTAAACTTGAAGGTAAAAAAAGATTGCTGTTAGAATACATATTACATGTCTAACCTACAAAATAAAAAACACTTTAAATGTAAAATAATACACATTCAGTGTAGAAAACTTGGAAAATACATAATTCAAAAAAGGAAAAAATAATAGCTATGATCTCACTGAAATCTCATGCCCCGACACTGTTAGCACTTTTAAAATCCACTCTTCCTGTCTTTTCTGGGTGTGCATGTATATTTTTATGCTAAATAAAAATAGAATATT... |
Task1_train_26113 | Gene TCF4 (transcription factor 4) on Chromosome 18 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Pitt-Hopkins syndrome | GTCAATATACAGCAATGACTAAAAGTTTCTTCTGAAGAAAATAATTTTTTTATGATTCATTAAACTTGAAGGTAAAAAAAGATTGCTGTTAGAATACATATTACATGTCTAACCTACAAAATAAAAAACACTTTAAATGTAAAATAATACACATTCAGTGTAGAAAACTTGGAAAATACATAATTCAAAAAAGGAAAAAATAATAGCTATGATCTCACTGAAATCTCATGCCCCGACACTGTTAGCACTTTTAAAATCCACTCTTCCTGTCTTTTCTGGGTGTGCATGTATATTTTTATGCTAAATAAAAATAGAATATT... | GTCAATATACAGCAATGACTAAAAGTTTCTTCTGAAGAAAATAATTTTTTTATGATTCATTAAACTTGAAGGTAAAAAAAGATTGCTGTTAGAATACATATTACATGTCTAACCTACAAAATAAAAAACACTTTAAATGTAAAATAATACACATTCAGTGTAGAAAACTTGGAAAATACATAATTCAAAAAAGGAAAAAATAATAGCTATGATCTCACTGAAATCTCATGCCCCGACACTGTTAGCACTTTTAAAATCCACTCTTCCTGTCTTTTCTGGGTGTGCATGTATATTTTTATGCTAAATAAAAATAGAATATT... |
Task1_train_26114 | This gene mutation involves TCF4 (transcription factor 4) on Chromosome 18. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | GTCAATATACAGCAATGACTAAAAGTTTCTTCTGAAGAAAATAATTTTTTTATGATTCATTAAACTTGAAGGTAAAAAAAGATTGCTGTTAGAATACATATTACATGTCTAACCTACAAAATAAAAAACACTTTAAATGTAAAATAATACACATTCAGTGTAGAAAACTTGGAAAATACATAATTCAAAAAAGGAAAAAATAATAGCTATGATCTCACTGAAATCTCATGCCCCGACACTGTTAGCACTTTTAAAATCCACTCTTCCTGTCTTTTCTGGGTGTGCATGTATATTTTTATGCTAAATAAAAATAGAATATT... | GTCAATATACAGCAATGACTAAAAGTTTCTTCTGAAGAAAATAATTTTTTTATGATTCATTAAACTTGAAGGTAAAAAAAGATTGCTGTTAGAATACATATTACATGTCTAACCTACAAAATAAAAAACACTTTAAATGTAAAATAATACACATTCAGTGTAGAAAACTTGGAAAATACATAATTCAAAAAAGGAAAAAATAATAGCTATGATCTCACTGAAATCTCATGCCCCGACACTGTTAGCACTTTTAAAATCCACTCTTCCTGTCTTTTCTGGGTGTGCATGTATATTTTTATGCTAAATAAAAATAGAATATT... |
Task1_train_26115 | This gene mutation involves TCF4 (transcription factor 4) on Chromosome 18. Is it associated with any clinical condition, or is it benign? | Pathogenic; Pitt-Hopkins syndrome | CCCACACAATTATTTCACAATTTATTTACAAAATTATAGTTTTCTCTAAACATCCCAATGGCATGTACTTTAAAGAGGGAATTTGGAAAGCCTGAAATTCCTGCAGGAAATGATCCATTTAAATAGTCTATATTTGATGACTATCTAGTCTATATTCATATTCATGACTATATTAACTGAGTTTTTTTCATCTGAGACGTTTTATTGGAATACATTATTCTGCCGTTGGGTGTCTTCTGCAGAGCTAAGAAAAGTGTAAGAAATACATTTTCCATATGCCTGTATATTTTAAAAAGATAATCTAATTTTTAAGAAAAGGT... | CCCACACAATTATTTCACAATTTATTTACAAAATTATAGTTTTCTCTAAACATCCCAATGGCATGTACTTTAAAGAGGGAATTTGGAAAGCCTGAAATTCCTGCAGGAAATGATCCATTTAAATAGTCTATATTTGATGACTATCTAGTCTATATTCATATTCATGACTATATTAACTGAGTTTTTTTCATCTGAGACGTTTTATTGGAATACATTATTCTGCCGTTGGGTGTCTTCTGCAGAGCTAAGAAAAGTGTAAGAAATACATTTTCCATATGCCTGTATATTTTAAAAAGATAATCTAATTTTTAAGAAAAGGT... |
Task1_train_26116 | A mutation in TCF4 (transcription factor 4), located on Chromosome 18, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | ATTTATCACATCCCATGATCTTGGCATAATGTTCTTTTGAAAGAAAGAATAGAATTAGATGTGTGCAAATTAATTGTGCTCATCAAAAATGTCAACTCAATTTTTTTTTTTTTTTTTTGCTTTTCGGGTATGCATATGCAGATAAACAAATTTGTTCCCCATATTTTGTGTGGTCTGCTAGGGAAAGGAGCCTACTGATATAATCTACCTGGCCTCTCCTGCAATGTGCACCCTTCCAGAAAGCCACTTTCCTGGGCAGATAGAAAAAATATATCCTTCCGTCAATGTTTTCAATCGAAATCTGTTTTGAGTGATGGATC... | ATTTATCACATCCCATGATCTTGGCATAATGTTCTTTTGAAAGAAAGAATAGAATTAGATGTGTGCAAATTAATTGTGCTCATCAAAAATGTCAACTCAATTTTTTTTTTTTTTTTTTGCTTTTCGGGTATGCATATGCAGATAAACAAATTTGTTCCCCATATTTTGTGTGGTCTGCTAGGGAAAGGAGCCTACTGATATAATCTACCTGGCCTCTCCTGCAATGTGCACCCTTCCAGAAAGCCACTTTCCTGGGCAGATAGAAAAAATATATCCTTCCGTCAATGTTTTCAATCGAAATCTGTTTTGAGTGATGGATC... |
Task1_train_26117 | This is a variant in TCF4 (transcription factor 4), located on Chromosome 18. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TTTTTTTTTTTGCTTTTCGGGTATGCATATGCAGATAAACAAATTTGTTCCCCATATTTTGTGTGGTCTGCTAGGGAAAGGAGCCTACTGATATAATCTACCTGGCCTCTCCTGCAATGTGCACCCTTCCAGAAAGCCACTTTCCTGGGCAGATAGAAAAAATATATCCTTCCGTCAATGTTTTCAATCGAAATCTGTTTTGAGTGATGGATCCTTGAGTTGCCAATCTCTGTAAGCTCCTGTAGGACAATATCTCCCACTGCTCACAAAACAGGGGACTGATGCTGAGGTAGCTACTGTTTATAACTGAAGGTGATTAG... | TTTTTTTTTTTGCTTTTCGGGTATGCATATGCAGATAAACAAATTTGTTCCCCATATTTTGTGTGGTCTGCTAGGGAAAGGAGCCTACTGATATAATCTACCTGGCCTCTCCTGCAATGTGCACCCTTCCAGAAAGCCACTTTCCTGGGCAGATAGAAAAAATATATCCTTCCGTCAATGTTTTCAATCGAAATCTGTTTTGAGTGATGGATCCTTGAGTTGCCAATCTCTGTAAGCTCCTGTAGGACAATATCTCCCACTGCTCACAAAACAGGGGACTGATGCTGAGGTAGCTACTGTTTATAACTGAAGGTGATTAG... |
Task1_train_26118 | A variant was discovered on Chromosome 18, affecting FECH (ferrochelatase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Protoporphyria, erythropoietic, 1 | AGCAACAAATGCCATGAGCAGTGATCTCAATAAATTCCTCTTTGCCTGTCACTATAAAAGCCAGTCTGGTCCCAACTCAGTATCAAGGACATTATTCCAGACAGCACAGTACTGCTATCAATTCAGGTTTCCTTAGCAAATAAGTGCTTCAGATATACTCGCAAGGGCTCCTGAATTGGAGTTTTCTGCATCATCTCCATAAAAATATTTTTTCACCTCTAAAGTCATCAAAGAATTGAAGCAGGCCCTTGGGAAATATCCTTAAGGGGAGAGAGTGGCTCCAAAAATAACCTTCCTTCCAGCACCACACCACCAGCTCA... | AGCAACAAATGCCATGAGCAGTGATCTCAATAAATTCCTCTTTGCCTGTCACTATAAAAGCCAGTCTGGTCCCAACTCAGTATCAAGGACATTATTCCAGACAGCACAGTACTGCTATCAATTCAGGTTTCCTTAGCAAATAAGTGCTTCAGATATACTCGCAAGGGCTCCTGAATTGGAGTTTTCTGCATCATCTCCATAAAAATATTTTTTCACCTCTAAAGTCATCAAAGAATTGAAGCAGGCCCTTGGGAAATATCCTTAAGGGGAGAGAGTGGCTCCAAAAATAACCTTCCTTCCAGCACCACACCACCAGCTCA... |
Task1_train_26119 | Gene FECH (ferrochelatase) on Chromosome 18 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Protoporphyria, erythropoietic, 1 | CAAACTTAGCTAAAACCTTAATGATGTTGTAATATTTATTAACATAGCCAATTCTCAATATAGAAGATTTATGAATCTCCTAATACTTCCACTTTATAAACTGGCTAAAAAAAAAAAAAAAAAGAAACGCTCTTTTGAAGAACAAAGTTTCAGGGCTTGGAGGAAAGAGAAAGTGATCTTTACAAATTCTTCATGGAACCACCGGGGATCTTTTAATCCATTTAAATACAAACATAGAAGATCAGACTCTGATCTGACATTATTTCTATATTTTTAGAAACACTTTTCACTCATAAATCCAAGGTGACAATGGCATTAAA... | CAAACTTAGCTAAAACCTTAATGATGTTGTAATATTTATTAACATAGCCAATTCTCAATATAGAAGATTTATGAATCTCCTAATACTTCCACTTTATAAACTGGCTAAAAAAAAAAAAAAAAAGAAACGCTCTTTTGAAGAACAAAGTTTCAGGGCTTGGAGGAAAGAGAAAGTGATCTTTACAAATTCTTCATGGAACCACCGGGGATCTTTTAATCCATTTAAATACAAACATAGAAGATCAGACTCTGATCTGACATTATTTCTATATTTTTAGAAACACTTTTCACTCATAAATCCAAGGTGACAATGGCATTAAA... |
Task1_train_26120 | Chromosome 18 houses a mutation in gene FECH (ferrochelatase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Protoporphyria, erythropoietic, 1 | GATACACTGACTAGAAAAATATATACCAACACTGAAATTCCATGTGCACCTGTAGTCCCAGCTACTCAGGTAGCTGAGGAGAGGATCACCTGAGCCTGGGATTTTGAGGCTAAAGGGAGCTATGATTGTGCCACTGCACCCCAGCCTGGTTGACAGAGCCAGATTTCATCTCTAAGCAAATTTATAAAATCATAATAAATTTAAAATAAAAAAATTGATTTCCAAACATATTGGTATAAACTATATTTTCACTGAAGTTTTAGCAAGTTCACAATTAGCCAAGCTCATAGTGAGATACAGAAGGCATCTTTAAACAAAAT... | GATACACTGACTAGAAAAATATATACCAACACTGAAATTCCATGTGCACCTGTAGTCCCAGCTACTCAGGTAGCTGAGGAGAGGATCACCTGAGCCTGGGATTTTGAGGCTAAAGGGAGCTATGATTGTGCCACTGCACCCCAGCCTGGTTGACAGAGCCAGATTTCATCTCTAAGCAAATTTATAAAATCATAATAAATTTAAAATAAAAAAATTGATTTCCAAACATATTGGTATAAACTATATTTTCACTGAAGTTTTAGCAAGTTCACAATTAGCCAAGCTCATAGTGAGATACAGAAGGCATCTTTAAACAAAAT... |
Task1_train_26121 | This alteration in FECH (ferrochelatase) on Chromosome 18 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Protoporphyria, erythropoietic, 1 | CTCTTCCTCAGTCTTAACATAGGGCAAGTCCCAAAACATTTCCATGCTTTCCATCACCGATCCACTGGGCTCTCTAACTATAAGAACTATTAGTTAGGTTTCCAGTTGAAAATGGTAGTCAGGAGAGAGCATATCTTAAATCACATATACTCTCAGACTAAGACTCAACTTCCAAAAAGATAAACAGGTTCAATTTTGGTGAGTAGAATACAGTGAATCAGAAGAATTCAAAGGGACTCCATTCAAGGTTCAGAAACAATCTCTCCAGAAATCAAAAAGTTGTCACGACCATATTCACGTTACAGACCGCACTTCACAGG... | CTCTTCCTCAGTCTTAACATAGGGCAAGTCCCAAAACATTTCCATGCTTTCCATCACCGATCCACTGGGCTCTCTAACTATAAGAACTATTAGTTAGGTTTCCAGTTGAAAATGGTAGTCAGGAGAGAGCATATCTTAAATCACATATACTCTCAGACTAAGACTCAACTTCCAAAAAGATAAACAGGTTCAATTTTGGTGAGTAGAATACAGTGAATCAGAAGAATTCAAAGGGACTCCATTCAAGGTTCAGAAACAATCTCTCCAGAAATCAAAAAGTTGTCACGACCATATTCACGTTACAGACCGCACTTCACAGG... |
Task1_train_26122 | Consider this mutation in FECH (ferrochelatase) on Chromosome 18. Is this a benign change or a disease-causing variant? | Pathogenic; Protoporphyria, erythropoietic, 1 | ATGATCTAAAGTTACTTAGTAGAATTTAAAGACTTTCATTTAATTTTAATAATATTAAGCCTACTTATATTAATGAGTTGCTGCTAGAAAAACACACAAATGAAATAATTTTTCTTCTAGGATTCCAAACTGAATCAGTTCTTCAGTTTCTATCAAATCCCAACCCTCAGTGCATATGGCTGAGGTGGGGAGAGGGGCTGGGAGGGGCAAGGAGAAATGGAATGGGCCCTGCTTGGCAGGCTGCCAGATGAAGAAGGTATCTAATGCCCATCCCCAACTAACCTCAGGTTACACAGCACTCAGTCATCATACCCATGATC... | ATGATCTAAAGTTACTTAGTAGAATTTAAAGACTTTCATTTAATTTTAATAATATTAAGCCTACTTATATTAATGAGTTGCTGCTAGAAAAACACACAAATGAAATAATTTTTCTTCTAGGATTCCAAACTGAATCAGTTCTTCAGTTTCTATCAAATCCCAACCCTCAGTGCATATGGCTGAGGTGGGGAGAGGGGCTGGGAGGGGCAAGGAGAAATGGAATGGGCCCTGCTTGGCAGGCTGCCAGATGAAGAAGGTATCTAATGCCCATCCCCAACTAACCTCAGGTTACACAGCACTCAGTCATCATACCCATGATC... |
Task1_train_26123 | This alteration in ATP8B1, ATP8B1-AS1 (ATPase phospholipid transporting 8B1| ATP8B1 antisense RNA 1) on Chromosome 18 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Benign recurrent intrahepatic cholestasis type 1 | CCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGTTTGAGGCCAGGAGGTGGAGGTTGCAGTAAGCCAAGGTCATGCCACTGCACCCCAGCCTGGGCCACAGAGGGAGACCTTGTTTTTTTTTTAAATGCACCTGGCATATAACAGTGCTTAATAAAAATTTTAAGACAACTTAAGAAAAACAAGCCCCTCTAAGATTATCTACATTGACTTTGTGCAATCCCTCTCATTATGTATTGGTGAACTCAGAGGAACAAAATGTTTCAAGTCTAAGTCACATAATCAGTTGATAAATCTCCAAAGCAAACCCGTCCCCTCCCAT... | CCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGTTTGAGGCCAGGAGGTGGAGGTTGCAGTAAGCCAAGGTCATGCCACTGCACCCCAGCCTGGGCCACAGAGGGAGACCTTGTTTTTTTTTTAAATGCACCTGGCATATAACAGTGCTTAATAAAAATTTTAAGACAACTTAAGAAAAACAAGCCCCTCTAAGATTATCTACATTGACTTTGTGCAATCCCTCTCATTATGTATTGGTGAACTCAGAGGAACAAAATGTTTCAAGTCTAAGTCACATAATCAGTTGATAAATCTCCAAAGCAAACCCGTCCCCTCCCAT... |
Task1_train_26124 | The following genetic variant occurs in ATP8B1, ATP8B1-AS1 (ATPase phospholipid transporting 8B1| ATP8B1 antisense RNA 1) on Chromosome 18. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cholestasis, intrahepatic, of pregnancy, 1 | CCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGTTTGAGGCCAGGAGGTGGAGGTTGCAGTAAGCCAAGGTCATGCCACTGCACCCCAGCCTGGGCCACAGAGGGAGACCTTGTTTTTTTTTTAAATGCACCTGGCATATAACAGTGCTTAATAAAAATTTTAAGACAACTTAAGAAAAACAAGCCCCTCTAAGATTATCTACATTGACTTTGTGCAATCCCTCTCATTATGTATTGGTGAACTCAGAGGAACAAAATGTTTCAAGTCTAAGTCACATAATCAGTTGATAAATCTCCAAAGCAAACCCGTCCCCTCCCAT... | CCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGTTTGAGGCCAGGAGGTGGAGGTTGCAGTAAGCCAAGGTCATGCCACTGCACCCCAGCCTGGGCCACAGAGGGAGACCTTGTTTTTTTTTTAAATGCACCTGGCATATAACAGTGCTTAATAAAAATTTTAAGACAACTTAAGAAAAACAAGCCCCTCTAAGATTATCTACATTGACTTTGTGCAATCCCTCTCATTATGTATTGGTGAACTCAGAGGAACAAAATGTTTCAAGTCTAAGTCACATAATCAGTTGATAAATCTCCAAAGCAAACCCGTCCCCTCCCAT... |
Task1_train_26125 | A mutation found in ATP8B1, ATP8B1-AS1 (ATPase phospholipid transporting 8B1| ATP8B1 antisense RNA 1) on Chromosome 18 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Progressive familial intrahepatic cholestasis type 1 | CCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGTTTGAGGCCAGGAGGTGGAGGTTGCAGTAAGCCAAGGTCATGCCACTGCACCCCAGCCTGGGCCACAGAGGGAGACCTTGTTTTTTTTTTAAATGCACCTGGCATATAACAGTGCTTAATAAAAATTTTAAGACAACTTAAGAAAAACAAGCCCCTCTAAGATTATCTACATTGACTTTGTGCAATCCCTCTCATTATGTATTGGTGAACTCAGAGGAACAAAATGTTTCAAGTCTAAGTCACATAATCAGTTGATAAATCTCCAAAGCAAACCCGTCCCCTCCCAT... | CCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGTTTGAGGCCAGGAGGTGGAGGTTGCAGTAAGCCAAGGTCATGCCACTGCACCCCAGCCTGGGCCACAGAGGGAGACCTTGTTTTTTTTTTAAATGCACCTGGCATATAACAGTGCTTAATAAAAATTTTAAGACAACTTAAGAAAAACAAGCCCCTCTAAGATTATCTACATTGACTTTGTGCAATCCCTCTCATTATGTATTGGTGAACTCAGAGGAACAAAATGTTTCAAGTCTAAGTCACATAATCAGTTGATAAATCTCCAAAGCAAACCCGTCCCCTCCCAT... |
Task1_train_26126 | Mutation context: Chromosome 18, Gene ATP8B1, ATP8B1-AS1 (ATPase phospholipid transporting 8B1| ATP8B1 antisense RNA 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Progressive familial intrahepatic cholestasis | CCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGTTTGAGGCCAGGAGGTGGAGGTTGCAGTAAGCCAAGGTCATGCCACTGCACCCCAGCCTGGGCCACAGAGGGAGACCTTGTTTTTTTTTTAAATGCACCTGGCATATAACAGTGCTTAATAAAAATTTTAAGACAACTTAAGAAAAACAAGCCCCTCTAAGATTATCTACATTGACTTTGTGCAATCCCTCTCATTATGTATTGGTGAACTCAGAGGAACAAAATGTTTCAAGTCTAAGTCACATAATCAGTTGATAAATCTCCAAAGCAAACCCGTCCCCTCCCAT... | CCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGTTTGAGGCCAGGAGGTGGAGGTTGCAGTAAGCCAAGGTCATGCCACTGCACCCCAGCCTGGGCCACAGAGGGAGACCTTGTTTTTTTTTTAAATGCACCTGGCATATAACAGTGCTTAATAAAAATTTTAAGACAACTTAAGAAAAACAAGCCCCTCTAAGATTATCTACATTGACTTTGTGCAATCCCTCTCATTATGTATTGGTGAACTCAGAGGAACAAAATGTTTCAAGTCTAAGTCACATAATCAGTTGATAAATCTCCAAAGCAAACCCGTCCCCTCCCAT... |
Task1_train_26127 | This genomic variant is located on Chromosome 18, within the ATP8B1, ATP8B1-AS1 (ATPase phospholipid transporting 8B1| ATP8B1 antisense RNA 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Benign recurrent intrahepatic cholestasis type 1 | CCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGTTTGAGGCCAGGAGGTGGAGGTTGCAGTAAGCCAAGGTCATGCCACTGCACCCCAGCCTGGGCCACAGAGGGAGACCTTGTTTTTTTTTTAAATGCACCTGGCATATAACAGTGCTTAATAAAAATTTTAAGACAACTTAAGAAAAACAAGCCCCTCTAAGATTATCTACATTGACTTTGTGCAATCCCTCTCATTATGTATTGGTGAACTCAGAGGAACAAAATGTTTCAAGTCTAAGTCACATAATCAGTTGATAAATCTCCAAAGCAAACCCGTCCCCTCCCAT... | CCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGTTTGAGGCCAGGAGGTGGAGGTTGCAGTAAGCCAAGGTCATGCCACTGCACCCCAGCCTGGGCCACAGAGGGAGACCTTGTTTTTTTTTTAAATGCACCTGGCATATAACAGTGCTTAATAAAAATTTTAAGACAACTTAAGAAAAACAAGCCCCTCTAAGATTATCTACATTGACTTTGTGCAATCCCTCTCATTATGTATTGGTGAACTCAGAGGAACAAAATGTTTCAAGTCTAAGTCACATAATCAGTTGATAAATCTCCAAAGCAAACCCGTCCCCTCCCAT... |
Task1_train_26128 | A mutation found in ATP8B1, ATP8B1-AS1 (ATPase phospholipid transporting 8B1| ATP8B1 antisense RNA 1) on Chromosome 18 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Progressive familial intrahepatic cholestasis type 1 | CCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGTTTGAGGCCAGGAGGTGGAGGTTGCAGTAAGCCAAGGTCATGCCACTGCACCCCAGCCTGGGCCACAGAGGGAGACCTTGTTTTTTTTTTAAATGCACCTGGCATATAACAGTGCTTAATAAAAATTTTAAGACAACTTAAGAAAAACAAGCCCCTCTAAGATTATCTACATTGACTTTGTGCAATCCCTCTCATTATGTATTGGTGAACTCAGAGGAACAAAATGTTTCAAGTCTAAGTCACATAATCAGTTGATAAATCTCCAAAGCAAACCCGTCCCCTCCCAT... | CCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGTTTGAGGCCAGGAGGTGGAGGTTGCAGTAAGCCAAGGTCATGCCACTGCACCCCAGCCTGGGCCACAGAGGGAGACCTTGTTTTTTTTTTAAATGCACCTGGCATATAACAGTGCTTAATAAAAATTTTAAGACAACTTAAGAAAAACAAGCCCCTCTAAGATTATCTACATTGACTTTGTGCAATCCCTCTCATTATGTATTGGTGAACTCAGAGGAACAAAATGTTTCAAGTCTAAGTCACATAATCAGTTGATAAATCTCCAAAGCAAACCCGTCCCCTCCCAT... |
Task1_train_26129 | This variant affects gene ATP8B1, ATP8B1-AS1 (ATPase phospholipid transporting 8B1| ATP8B1 antisense RNA 1) located on Chromosome 18. Evaluate its biological effect and specify any disease association. | Pathogenic; Progressive familial intrahepatic cholestasis type 1 | GCCACTGCACCCCAGCCTGGGCCACAGAGGGAGACCTTGTTTTTTTTTTAAATGCACCTGGCATATAACAGTGCTTAATAAAAATTTTAAGACAACTTAAGAAAAACAAGCCCCTCTAAGATTATCTACATTGACTTTGTGCAATCCCTCTCATTATGTATTGGTGAACTCAGAGGAACAAAATGTTTCAAGTCTAAGTCACATAATCAGTTGATAAATCTCCAAAGCAAACCCGTCCCCTCCCATTATCTAGAAGGCTACTTTATAACTGAATAAAAATCATGTTTGACTTGTCCTTTTGGCACGGCTAGTTACGTTAA... | GCCACTGCACCCCAGCCTGGGCCACAGAGGGAGACCTTGTTTTTTTTTTAAATGCACCTGGCATATAACAGTGCTTAATAAAAATTTTAAGACAACTTAAGAAAAACAAGCCCCTCTAAGATTATCTACATTGACTTTGTGCAATCCCTCTCATTATGTATTGGTGAACTCAGAGGAACAAAATGTTTCAAGTCTAAGTCACATAATCAGTTGATAAATCTCCAAAGCAAACCCGTCCCCTCCCATTATCTAGAAGGCTACTTTATAACTGAATAAAAATCATGTTTGACTTGTCCTTTTGGCACGGCTAGTTACGTTAA... |
Task1_train_26130 | This sequence variant lies in ATP8B1, ATP8B1-AS1 (ATPase phospholipid transporting 8B1| ATP8B1 antisense RNA 1) on Chromosome 18. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not specified | GCCACTGCACCCCAGCCTGGGCCACAGAGGGAGACCTTGTTTTTTTTTTAAATGCACCTGGCATATAACAGTGCTTAATAAAAATTTTAAGACAACTTAAGAAAAACAAGCCCCTCTAAGATTATCTACATTGACTTTGTGCAATCCCTCTCATTATGTATTGGTGAACTCAGAGGAACAAAATGTTTCAAGTCTAAGTCACATAATCAGTTGATAAATCTCCAAAGCAAACCCGTCCCCTCCCATTATCTAGAAGGCTACTTTATAACTGAATAAAAATCATGTTTGACTTGTCCTTTTGGCACGGCTAGTTACGTTAA... | GCCACTGCACCCCAGCCTGGGCCACAGAGGGAGACCTTGTTTTTTTTTTAAATGCACCTGGCATATAACAGTGCTTAATAAAAATTTTAAGACAACTTAAGAAAAACAAGCCCCTCTAAGATTATCTACATTGACTTTGTGCAATCCCTCTCATTATGTATTGGTGAACTCAGAGGAACAAAATGTTTCAAGTCTAAGTCACATAATCAGTTGATAAATCTCCAAAGCAAACCCGTCCCCTCCCATTATCTAGAAGGCTACTTTATAACTGAATAAAAATCATGTTTGACTTGTCCTTTTGGCACGGCTAGTTACGTTAA... |
Task1_train_26131 | Located on Chromosome 18, this mutation impacts ATP8B1, ATP8B1-AS1 (ATPase phospholipid transporting 8B1| ATP8B1 antisense RNA 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Cholestasis, intrahepatic, of pregnancy, 1 | CCACTGCACCCCAGCCTGGGCCACAGAGGGAGACCTTGTTTTTTTTTTAAATGCACCTGGCATATAACAGTGCTTAATAAAAATTTTAAGACAACTTAAGAAAAACAAGCCCCTCTAAGATTATCTACATTGACTTTGTGCAATCCCTCTCATTATGTATTGGTGAACTCAGAGGAACAAAATGTTTCAAGTCTAAGTCACATAATCAGTTGATAAATCTCCAAAGCAAACCCGTCCCCTCCCATTATCTAGAAGGCTACTTTATAACTGAATAAAAATCATGTTTGACTTGTCCTTTTGGCACGGCTAGTTACGTTAAA... | CCACTGCACCCCAGCCTGGGCCACAGAGGGAGACCTTGTTTTTTTTTTAAATGCACCTGGCATATAACAGTGCTTAATAAAAATTTTAAGACAACTTAAGAAAAACAAGCCCCTCTAAGATTATCTACATTGACTTTGTGCAATCCCTCTCATTATGTATTGGTGAACTCAGAGGAACAAAATGTTTCAAGTCTAAGTCACATAATCAGTTGATAAATCTCCAAAGCAAACCCGTCCCCTCCCATTATCTAGAAGGCTACTTTATAACTGAATAAAAATCATGTTTGACTTGTCCTTTTGGCACGGCTAGTTACGTTAAA... |
Task1_train_26132 | An alteration has been detected in ATP8B1 (ATPase phospholipid transporting 8B1) on Chromosome 18. Is it pathogenic, and if so, what disease is involved? | Pathogenic; ATP8B1-related disorder | CAGTGAGCCGAGATAGCACCATTGCACTTCAGCCTGGGCAGCAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAGTATATATATATATATATATATATATATATATATATATATATATATAACATGTATATACACATATATACATACATATATCTACATATATACACACATATATAAATACATGTATATATAAATATACATATATAAATATATGTATATATATATAAATATAAATGTGTGTGTGTGTATACACCTTCTGATGTGATACTTAAAGAAAAGCACAGCATCACTTACGGACTCTTCCTGCCAACAAT... | CAGTGAGCCGAGATAGCACCATTGCACTTCAGCCTGGGCAGCAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAGTATATATATATATATATATATATATATATATATATATATATATATAACATGTATATACACATATATACATACATATATCTACATATATACACACATATATAAATACATGTATATATAAATATACATATATAAATATATGTATATATATATAAATATAAATGTGTGTGTGTGTATACACCTTCTGATGTGATACTTAAAGAAAAGCACAGCATCACTTACGGACTCTTCCTGCCAACAAT... |
Task1_train_26133 | Here is a genetic alteration in ATP8B1 (ATPase phospholipid transporting 8B1) on Chromosome 18. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Progressive familial intrahepatic cholestasis type 1 | CAGTGAGCCGAGATAGCACCATTGCACTTCAGCCTGGGCAGCAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAGTATATATATATATATATATATATATATATATATATATATATATATAACATGTATATACACATATATACATACATATATCTACATATATACACACATATATAAATACATGTATATATAAATATACATATATAAATATATGTATATATATATAAATATAAATGTGTGTGTGTGTATACACCTTCTGATGTGATACTTAAAGAAAAGCACAGCATCACTTACGGACTCTTCCTGCCAACAAT... | CAGTGAGCCGAGATAGCACCATTGCACTTCAGCCTGGGCAGCAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAGTATATATATATATATATATATATATATATATATATATATATATATAACATGTATATACACATATATACATACATATATCTACATATATACACACATATATAAATACATGTATATATAAATATACATATATAAATATATGTATATATATATAAATATAAATGTGTGTGTGTGTATACACCTTCTGATGTGATACTTAAAGAAAAGCACAGCATCACTTACGGACTCTTCCTGCCAACAAT... |
Task1_train_26134 | This sequence variant lies in ATP8B1 (ATPase phospholipid transporting 8B1) on Chromosome 18. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Benign recurrent intrahepatic cholestasis type 1 | CAGTGAGCCGAGATAGCACCATTGCACTTCAGCCTGGGCAGCAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAGTATATATATATATATATATATATATATATATATATATATATATATAACATGTATATACACATATATACATACATATATCTACATATATACACACATATATAAATACATGTATATATAAATATACATATATAAATATATGTATATATATATAAATATAAATGTGTGTGTGTGTATACACCTTCTGATGTGATACTTAAAGAAAAGCACAGCATCACTTACGGACTCTTCCTGCCAACAAT... | CAGTGAGCCGAGATAGCACCATTGCACTTCAGCCTGGGCAGCAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAGTATATATATATATATATATATATATATATATATATATATATATATAACATGTATATACACATATATACATACATATATCTACATATATACACACATATATAAATACATGTATATATAAATATACATATATAAATATATGTATATATATATAAATATAAATGTGTGTGTGTGTATACACCTTCTGATGTGATACTTAAAGAAAAGCACAGCATCACTTACGGACTCTTCCTGCCAACAAT... |
Task1_train_26135 | Here is a variant affecting ATP8B1 (ATPase phospholipid transporting 8B1) on Chromosome 18. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | ACATATATACATACATATATCTACATATATACACACATATATAAATACATGTATATATAAATATACATATATAAATATATGTATATATATATAAATATAAATGTGTGTGTGTGTATACACCTTCTGATGTGATACTTAAAGAAAAGCACAGCATCACTTACGGACTCTTCCTGCCAACAATGTGTAACCTAGCTCTAATCATGAGGGAACATCAGACAAACGCAAATGGAGGGATAGCCTATAAAATAACCAGCCTGTGCTTTTTAAAAATATCAATGGATGAAAGATCAAAAAGAGATTGAACCGTCCTTGACTCAGAG... | ACATATATACATACATATATCTACATATATACACACATATATAAATACATGTATATATAAATATACATATATAAATATATGTATATATATATAAATATAAATGTGTGTGTGTGTATACACCTTCTGATGTGATACTTAAAGAAAAGCACAGCATCACTTACGGACTCTTCCTGCCAACAATGTGTAACCTAGCTCTAATCATGAGGGAACATCAGACAAACGCAAATGGAGGGATAGCCTATAAAATAACCAGCCTGTGCTTTTTAAAAATATCAATGGATGAAAGATCAAAAAGAGATTGAACCGTCCTTGACTCAGAG... |
Task1_train_26136 | This is a variant in ATP8B1 (ATPase phospholipid transporting 8B1), located on Chromosome 18. Is this mutation a likely cause of disease or not? | Pathogenic; Progressive familial intrahepatic cholestasis type 1 | TAAAATTTACCATATTAACCGATTTTTTGTTTGATTTTTTTGAGTCAGGGTTTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAAACCCAGCCCACAACAGCCTCGACGTACCCAGGCTCAGGTGATCCTACCTCAGCCTCTCAAGTAACTGGAACTACAGGCACACACAATTTTGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTAGAGGCATCCACCACCACGCCCAGGTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGG... | TAAAATTTACCATATTAACCGATTTTTTGTTTGATTTTTTTGAGTCAGGGTTTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAAACCCAGCCCACAACAGCCTCGACGTACCCAGGCTCAGGTGATCCTACCTCAGCCTCTCAAGTAACTGGAACTACAGGCACACACAATTTTGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTAGAGGCATCCACCACCACGCCCAGGTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGG... |
Task1_train_26137 | This variant impacts the gene ATP8B1 (ATPase phospholipid transporting 8B1) on Chromosome 18. Is the change likely to result in a pathogenic outcome? | Pathogenic; Progressive familial intrahepatic cholestasis | TTATTATTTTTATGTGATTTTAAACATGTATATGCAATCAAAGAATAAGTTTTAGAAGTATGCATTCAAATTGAATTAAATACTTGAAAAAATTTTTCATTGGGAAATAGAAGGAGTGCTTAATATTTGGGGTCACCACGTGGGCAGAAAAGAGCAAACATAGCAGGTCTGAGACTGCTTCCTCCGAAGGCCGGCTTGCAAGGTTCGCCCTGGGCTGGTATCTGGTAACTTAGATGTTTGGAGGATTTCCCAGTTATTTTTTATTCTCTGATAAGAATAGCTCATGGGCCGGGTGCAGTGGCTCATGCTTGTAATCCAAG... | TTATTATTTTTATGTGATTTTAAACATGTATATGCAATCAAAGAATAAGTTTTAGAAGTATGCATTCAAATTGAATTAAATACTTGAAAAAATTTTTCATTGGGAAATAGAAGGAGTGCTTAATATTTGGGGTCACCACGTGGGCAGAAAAGAGCAAACATAGCAGGTCTGAGACTGCTTCCTCCGAAGGCCGGCTTGCAAGGTTCGCCCTGGGCTGGTATCTGGTAACTTAGATGTTTGGAGGATTTCCCAGTTATTTTTTATTCTCTGATAAGAATAGCTCATGGGCCGGGTGCAGTGGCTCATGCTTGTAATCCAAG... |
Task1_train_26138 | A mutation on Chromosome 18 affecting ATP8B1 (ATPase phospholipid transporting 8B1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Progressive familial intrahepatic cholestasis type 1 | TGCATTCAAATTGAATTAAATACTTGAAAAAATTTTTCATTGGGAAATAGAAGGAGTGCTTAATATTTGGGGTCACCACGTGGGCAGAAAAGAGCAAACATAGCAGGTCTGAGACTGCTTCCTCCGAAGGCCGGCTTGCAAGGTTCGCCCTGGGCTGGTATCTGGTAACTTAGATGTTTGGAGGATTTCCCAGTTATTTTTTATTCTCTGATAAGAATAGCTCATGGGCCGGGTGCAGTGGCTCATGCTTGTAATCCAAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGC... | TGCATTCAAATTGAATTAAATACTTGAAAAAATTTTTCATTGGGAAATAGAAGGAGTGCTTAATATTTGGGGTCACCACGTGGGCAGAAAAGAGCAAACATAGCAGGTCTGAGACTGCTTCCTCCGAAGGCCGGCTTGCAAGGTTCGCCCTGGGCTGGTATCTGGTAACTTAGATGTTTGGAGGATTTCCCAGTTATTTTTTATTCTCTGATAAGAATAGCTCATGGGCCGGGTGCAGTGGCTCATGCTTGTAATCCAAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGC... |
Task1_train_26139 | The gene NEDD4L (NEDD4 like E3 ubiquitin protein ligase) on Chromosome 18 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Periventricular nodular heterotopia 7 | AGAAGTGAGAATTTACGGTTTATGACTCATGAAATTCTCTTGAATGTTGCCTCAGTATACATAAAATTTCAGGTGTATTGTTTGCATTATCTATATTTATAAATTTATCTTCCAGGCTGTCCCTTACTCCAGAGAATTTAAGCAGAAATATGACTACTTCAGGAAGAAATTAAAGAAACCTGTGAGTAATCATGCCTTCCAAAAATGCTTTGTGTTAGTCATTTGTAAGTTACCACAGTCACTTCAGTGAGAACAACTTGGTTGTTACTTTTATATGAATGCTAAAAATATTACCTTCCTTTTCTCTCTGCACTTTGATC... | AGAAGTGAGAATTTACGGTTTATGACTCATGAAATTCTCTTGAATGTTGCCTCAGTATACATAAAATTTCAGGTGTATTGTTTGCATTATCTATATTTATAAATTTATCTTCCAGGCTGTCCCTTACTCCAGAGAATTTAAGCAGAAATATGACTACTTCAGGAAGAAATTAAAGAAACCTGTGAGTAATCATGCCTTCCAAAAATGCTTTGTGTTAGTCATTTGTAAGTTACCACAGTCACTTCAGTGAGAACAACTTGGTTGTTACTTTTATATGAATGCTAAAAATATTACCTTCCTTTTCTCTCTGCACTTTGATC... |
Task1_train_26140 | A genomic change on Chromosome 18 affects NEDD4L (NEDD4 like E3 ubiquitin protein ligase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay | AGAAGTGAGAATTTACGGTTTATGACTCATGAAATTCTCTTGAATGTTGCCTCAGTATACATAAAATTTCAGGTGTATTGTTTGCATTATCTATATTTATAAATTTATCTTCCAGGCTGTCCCTTACTCCAGAGAATTTAAGCAGAAATATGACTACTTCAGGAAGAAATTAAAGAAACCTGTGAGTAATCATGCCTTCCAAAAATGCTTTGTGTTAGTCATTTGTAAGTTACCACAGTCACTTCAGTGAGAACAACTTGGTTGTTACTTTTATATGAATGCTAAAAATATTACCTTCCTTTTCTCTCTGCACTTTGATC... | AGAAGTGAGAATTTACGGTTTATGACTCATGAAATTCTCTTGAATGTTGCCTCAGTATACATAAAATTTCAGGTGTATTGTTTGCATTATCTATATTTATAAATTTATCTTCCAGGCTGTCCCTTACTCCAGAGAATTTAAGCAGAAATATGACTACTTCAGGAAGAAATTAAAGAAACCTGTGAGTAATCATGCCTTCCAAAAATGCTTTGTGTTAGTCATTTGTAAGTTACCACAGTCACTTCAGTGAGAACAACTTGGTTGTTACTTTTATATGAATGCTAAAAATATTACCTTCCTTTTCTCTCTGCACTTTGATC... |
Task1_train_26141 | A sequence alteration has been identified in NEDD4L (NEDD4 like E3 ubiquitin protein ligase) on Chromosome 18. Is it disease-inducing or harmless? | Pathogenic; Periventricular nodular heterotopia 7 | CCACAGTTGTTTATTAAAGGGGGCAAGGAGGATGTTCTCCTTCGCAGCAGAGTTCTAACTTTCCTGAGCATCGCTAGTGGATGCCGTGTGTCCCATCGTGACACAGCAAGGCTTTCTGTCTGCAAGGGAAAACCCCTAAAGGAGAGAATCTCAGTTGGAACCATTTGTCACTGCCTGTTTCTTTGAGGACTGCCAACTTTTCTACCATTTGCTGTTGTTTTTATTAGAAAACAAAGTGTGTATTTACTGTATGATTATGTGTTTTCTTTTGTCTTTTGTGTAGGCTGATATCCCCAATAGGTTTGAAATGAAACTTCACA... | CCACAGTTGTTTATTAAAGGGGGCAAGGAGGATGTTCTCCTTCGCAGCAGAGTTCTAACTTTCCTGAGCATCGCTAGTGGATGCCGTGTGTCCCATCGTGACACAGCAAGGCTTTCTGTCTGCAAGGGAAAACCCCTAAAGGAGAGAATCTCAGTTGGAACCATTTGTCACTGCCTGTTTCTTTGAGGACTGCCAACTTTTCTACCATTTGCTGTTGTTTTTATTAGAAAACAAAGTGTGTATTTACTGTATGATTATGTGTTTTCTTTTGTCTTTTGTGTAGGCTGATATCCCCAATAGGTTTGAAATGAAACTTCACA... |
Task1_train_26142 | Given this variant in gene NEDD4L (NEDD4 like E3 ubiquitin protein ligase) on Chromosome 18, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay | CCACAGTTGTTTATTAAAGGGGGCAAGGAGGATGTTCTCCTTCGCAGCAGAGTTCTAACTTTCCTGAGCATCGCTAGTGGATGCCGTGTGTCCCATCGTGACACAGCAAGGCTTTCTGTCTGCAAGGGAAAACCCCTAAAGGAGAGAATCTCAGTTGGAACCATTTGTCACTGCCTGTTTCTTTGAGGACTGCCAACTTTTCTACCATTTGCTGTTGTTTTTATTAGAAAACAAAGTGTGTATTTACTGTATGATTATGTGTTTTCTTTTGTCTTTTGTGTAGGCTGATATCCCCAATAGGTTTGAAATGAAACTTCACA... | CCACAGTTGTTTATTAAAGGGGGCAAGGAGGATGTTCTCCTTCGCAGCAGAGTTCTAACTTTCCTGAGCATCGCTAGTGGATGCCGTGTGTCCCATCGTGACACAGCAAGGCTTTCTGTCTGCAAGGGAAAACCCCTAAAGGAGAGAATCTCAGTTGGAACCATTTGTCACTGCCTGTTTCTTTGAGGACTGCCAACTTTTCTACCATTTGCTGTTGTTTTTATTAGAAAACAAAGTGTGTATTTACTGTATGATTATGTGTTTTCTTTTGTCTTTTGTGTAGGCTGATATCCCCAATAGGTTTGAAATGAAACTTCACA... |
Task1_train_26143 | This variant affects gene MALT1 (MALT1 paracaspase) located on Chromosome 18. Evaluate its biological effect and specify any disease association. | Pathogenic; Combined immunodeficiency due to MALT1 deficiency | ACCTGTCTTTCTAATCTGGTATACCACTACTGCACACAATAACATGGAAAAGGAAATTGTATATGTATGTTAAATACTGGTATTTTTAAAAGAATAGTTTTAATAAAAGGACAATAAGACATTCTTTAAAGGAAGGGTTAGCAAACTATTTCCATAGAGGGCCCAATGGTAAATATTTTTGGCTTTGCAGCCAGGTATTCAGCTCTGCAGTTGTATCAGGAGAGCTGCCATAGACATTTGTGAATATGTGAATGAATGAGTGTAGCTGTGCTCCAGTGAAACTTTATTTACAGAAATCAGGTAGCTGAACACATTTGGCC... | ACCTGTCTTTCTAATCTGGTATACCACTACTGCACACAATAACATGGAAAAGGAAATTGTATATGTATGTTAAATACTGGTATTTTTAAAAGAATAGTTTTAATAAAAGGACAATAAGACATTCTTTAAAGGAAGGGTTAGCAAACTATTTCCATAGAGGGCCCAATGGTAAATATTTTTGGCTTTGCAGCCAGGTATTCAGCTCTGCAGTTGTATCAGGAGAGCTGCCATAGACATTTGTGAATATGTGAATGAATGAGTGTAGCTGTGCTCCAGTGAAACTTTATTTACAGAAATCAGGTAGCTGAACACATTTGGCC... |
Task1_train_26144 | With a mutation on Chromosome 18 in gene MALT1 (MALT1 paracaspase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Combined immunodeficiency due to MALT1 deficiency | GTTTATGGTAGAACTTGCCTATAAACCAACCTGGGATTGGTATTTTTTTGGTAGAAGATTTTTAACCACTGGTTCAGTATCTTGAATATTTCTTGTACCATATAGGCTTTTCATTTCTTGAGTCAATTTTGATAAGTTATATTTTCCTAGGAATTTGGGCAGTTTTCAAATTCGTTGTCATTTAGTTGCTCATATTTCTAATAGTATTCTTTAATCTCTGCCTTATCCATAGTTATATATCCGTTTTCATCAGTATTACTTGTACTTACTTTCCTTTTTTATTTATTGCCAGCTTTTGCCAATTGTGCTATTTCATTTTG... | GTTTATGGTAGAACTTGCCTATAAACCAACCTGGGATTGGTATTTTTTTGGTAGAAGATTTTTAACCACTGGTTCAGTATCTTGAATATTTCTTGTACCATATAGGCTTTTCATTTCTTGAGTCAATTTTGATAAGTTATATTTTCCTAGGAATTTGGGCAGTTTTCAAATTCGTTGTCATTTAGTTGCTCATATTTCTAATAGTATTCTTTAATCTCTGCCTTATCCATAGTTATATATCCGTTTTCATCAGTATTACTTGTACTTACTTTCCTTTTTTATTTATTGCCAGCTTTTGCCAATTGTGCTATTTCATTTTG... |
Task1_train_26145 | This mutation is located in gene RAX (retina and anterior neural fold homeobox) on Chromosome 18. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Isolated microphthalmia 3 | GTCTTGGTACTTTCCACAAAGCCTTTACAGGTGATCTTATTCCATCTTTCCCACCTTCCAGAGAGACAGAGTTTATTTAGACGAGGAAAGGGGACTGGGAGCTTCACTAATTTGCTCAGGACCGACAGACAGTAGCCAGTTGATGCTAATTAAGGCTCTGGGGGCATCATCCTGAAAGCACGCTTAGGGACGGGGGTTGTGGGGTGGACGCCCCCCCCCCCCCCGTGCCAGGACCTGTTGGCGGGCATCCAGGTTCTGCTGGCGGTCGCCCAGCTTCCAGTGTCAACGGTGGATATCGAGCACGCTCAGGCGGGAGTCCG... | GTCTTGGTACTTTCCACAAAGCCTTTACAGGTGATCTTATTCCATCTTTCCCACCTTCCAGAGAGACAGAGTTTATTTAGACGAGGAAAGGGGACTGGGAGCTTCACTAATTTGCTCAGGACCGACAGACAGTAGCCAGTTGATGCTAATTAAGGCTCTGGGGGCATCATCCTGAAAGCACGCTTAGGGACGGGGGTTGTGGGGTGGACGCCCCCCCCCCCCCCGTGCCAGGACCTGTTGGCGGGCATCCAGGTTCTGCTGGCGGTCGCCCAGCTTCCAGTGTCAACGGTGGATATCGAGCACGCTCAGGCGGGAGTCCG... |
Task1_train_26146 | The gene RAX (retina and anterior neural fold homeobox) on Chromosome 18 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Isolated microphthalmia 3 | ACAAAGCCTTTACAGGTGATCTTATTCCATCTTTCCCACCTTCCAGAGAGACAGAGTTTATTTAGACGAGGAAAGGGGACTGGGAGCTTCACTAATTTGCTCAGGACCGACAGACAGTAGCCAGTTGATGCTAATTAAGGCTCTGGGGGCATCATCCTGAAAGCACGCTTAGGGACGGGGGTTGTGGGGTGGACGCCCCCCCCCCCCCCGTGCCAGGACCTGTTGGCGGGCATCCAGGTTCTGCTGGCGGTCGCCCAGCTTCCAGTGTCAACGGTGGATATCGAGCACGCTCAGGCGGGAGTCCGGGACTCTCCTTCTTC... | ACAAAGCCTTTACAGGTGATCTTATTCCATCTTTCCCACCTTCCAGAGAGACAGAGTTTATTTAGACGAGGAAAGGGGACTGGGAGCTTCACTAATTTGCTCAGGACCGACAGACAGTAGCCAGTTGATGCTAATTAAGGCTCTGGGGGCATCATCCTGAAAGCACGCTTAGGGACGGGGGTTGTGGGGTGGACGCCCCCCCCCCCCCCGTGCCAGGACCTGTTGGCGGGCATCCAGGTTCTGCTGGCGGTCGCCCAGCTTCCAGTGTCAACGGTGGATATCGAGCACGCTCAGGCGGGAGTCCGGGACTCTCCTTCTTC... |
Task1_train_26147 | Here is a genetic alteration in LMAN1 (lectin, mannose binding 1) on Chromosome 18. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Factor V and factor VIII, combined deficiency of, type 1 | TACTTTGTTTCAAATTCATTCTAGCCACACGGCTTTAATTTACTGGTACATTATCTTGACATTTCTGCAGCAGAATAGATTAGTTGGTTCCGGCTCTGTAAAGGAAGTCAAGGTAGCTGATTTGACTAGTTGATTAACATTCCTAATTGGCTAATGTAGTGTATGTGAGTGTGAGAAAAAGAGAAAAGGGATAGAAGAACAGGCAGGCAGTGGAGAGGTGTAGAAGTGAAAATGTGTGAACAAATCCATCACTACTGAATAATTCATCATCCCACAAATAGAAACAAAAACTCCAAAAACTTGTGTTTGATATCATTTGC... | TACTTTGTTTCAAATTCATTCTAGCCACACGGCTTTAATTTACTGGTACATTATCTTGACATTTCTGCAGCAGAATAGATTAGTTGGTTCCGGCTCTGTAAAGGAAGTCAAGGTAGCTGATTTGACTAGTTGATTAACATTCCTAATTGGCTAATGTAGTGTATGTGAGTGTGAGAAAAAGAGAAAAGGGATAGAAGAACAGGCAGGCAGTGGAGAGGTGTAGAAGTGAAAATGTGTGAACAAATCCATCACTACTGAATAATTCATCATCCCACAAATAGAAACAAAAACTCCAAAAACTTGTGTTTGATATCATTTGC... |
Task1_train_26148 | This sequence variant lies in CCBE1 (collagen and calcium binding EGF domains 1) on Chromosome 18. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hennekam lymphangiectasia-lymphedema syndrome 1 | TGCAGCTCAGTGATGTCATTGCGGATGTCAGCCAGCATAAGTAGCAGGAAGTCGAAAGAACCAGGGGGTCCCTGTGTACATGGGAGGAATCAAAGCTAGAATACGACAGACAGCAATGGCCTCCGGGGCTCCATGACTTGACCTGCTGCTTGCTGGCAACTACTTTCTCAATAACTCTGTGCCCCAAATGGAGCCAATGTGAGGACTGCTACAGGAGCCTGGGGGTCCTCCATATTGTTTTCTAATTCTGTCACTTCTCAGCTGAGCTTTGGTGATGTATTCACCTTTCCTCCCTCCTAACGCTTTATCAAATCCAGTAG... | TGCAGCTCAGTGATGTCATTGCGGATGTCAGCCAGCATAAGTAGCAGGAAGTCGAAAGAACCAGGGGGTCCCTGTGTACATGGGAGGAATCAAAGCTAGAATACGACAGACAGCAATGGCCTCCGGGGCTCCATGACTTGACCTGCTGCTTGCTGGCAACTACTTTCTCAATAACTCTGTGCCCCAAATGGAGCCAATGTGAGGACTGCTACAGGAGCCTGGGGGTCCTCCATATTGTTTTCTAATTCTGTCACTTCTCAGCTGAGCTTTGGTGATGTATTCACCTTTCCTCCCTCCTAACGCTTTATCAAATCCAGTAG... |
Task1_train_26149 | This sequence variant lies in CCBE1 (collagen and calcium binding EGF domains 1) on Chromosome 18. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hennekam lymphangiectasia-lymphedema syndrome 1 | CCCCTCATGAGCTGTGGAAATGAGCCATGGGACCATCAAACAAGTCCCCATGAAGAGCCCATGTTAACTATGCACATCATGGACTTGCTCCCCTGCCGCATGGTGGAAACAAAAACGTTTCCCACCACGAGGACAGTGGGAGGCCCAATTCCATTTCCTGTTCACTGGTTGAAGACAGTGGGTAGCAGTGGGTGGGAGCCGTGGCATGCAGCCCCAGACTGTGCACATGTGCTGCGTAGACACAGGCCAGCCCTGAACTTGAGGATGGCAACAACTTCCCAGCCACTCCCTGCACAAGCTGCCAGTGACTCAGTCCCTGT... | CCCCTCATGAGCTGTGGAAATGAGCCATGGGACCATCAAACAAGTCCCCATGAAGAGCCCATGTTAACTATGCACATCATGGACTTGCTCCCCTGCCGCATGGTGGAAACAAAAACGTTTCCCACCACGAGGACAGTGGGAGGCCCAATTCCATTTCCTGTTCACTGGTTGAAGACAGTGGGTAGCAGTGGGTGGGAGCCGTGGCATGCAGCCCCAGACTGTGCACATGTGCTGCGTAGACACAGGCCAGCCCTGAACTTGAGGATGGCAACAACTTCCCAGCCACTCCCTGCACAAGCTGCCAGTGACTCAGTCCCTGT... |
Task1_train_26150 | This variant affects gene CCBE1 (collagen and calcium binding EGF domains 1) located on Chromosome 18. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | CAATGAAGATTTTGGACTTGCATCTCCACAATCTCATAAGCCAATCCCTTTAAAAAAGTCTCAATCTCTCACTCAGTCTCAGTCTCTCCCTCTCTCTCCTACATAGAAAATCGAAATCAAAATTGGTTCTATTTCTCTGGAGAACCCTAATATACAATATTTTCTGAAATACTGCATTTGTACTTTGCATTCTTTGATGATAGAAACAATTATGACTAAAGATATCTTTAGTAAAAGAAACAATCATTGACTTTTTCCCACAGATTAAAACAAACATGCTATGAAAAGTGTTCTAGCAAAAAGCAACAGAGCAGATAATT... | CAATGAAGATTTTGGACTTGCATCTCCACAATCTCATAAGCCAATCCCTTTAAAAAAGTCTCAATCTCTCACTCAGTCTCAGTCTCTCCCTCTCTCTCCTACATAGAAAATCGAAATCAAAATTGGTTCTATTTCTCTGGAGAACCCTAATATACAATATTTTCTGAAATACTGCATTTGTACTTTGCATTCTTTGATGATAGAAACAATTATGACTAAAGATATCTTTAGTAAAAGAAACAATCATTGACTTTTTCCCACAGATTAAAACAAACATGCTATGAAAAGTGTTCTAGCAAAAAGCAACAGAGCAGATAATT... |
Task1_train_26151 | This variant lies on Chromosome 18 and affects the gene MC4R (melanocortin 4 receptor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Obesity | GGTACCATGGCATATAGGGGAGGGTGCTGTTATATGGCTCGTTCATGAATTATACACACCCTAACACTGTAAACCACTCCAGGAGAAGGTATGAACCTGAAGAAGGAGGAGCCAGGATCTGAGATGGCACTTGGAGGAGAAATAGGATAAACTGGGAAGGGCAGCCACCACAGAAGATGGGGTGTGCTCATAGCTCTCTTTTTCATATCTCTAGTCCCTGGGATTTTTCAGATTCATGAAATGAAAGAATGGACAGGAAACGTAGCAATGAAAAAAACATAACTGTGTCCCTCTACTGCTATAGACTATGATTGTTAGAT... | GGTACCATGGCATATAGGGGAGGGTGCTGTTATATGGCTCGTTCATGAATTATACACACCCTAACACTGTAAACCACTCCAGGAGAAGGTATGAACCTGAAGAAGGAGGAGCCAGGATCTGAGATGGCACTTGGAGGAGAAATAGGATAAACTGGGAAGGGCAGCCACCACAGAAGATGGGGTGTGCTCATAGCTCTCTTTTTCATATCTCTAGTCCCTGGGATTTTTCAGATTCATGAAATGAAAGAATGGACAGGAAACGTAGCAATGAAAAAAACATAACTGTGTCCCTCTACTGCTATAGACTATGATTGTTAGAT... |
Task1_train_26152 | Here is a genetic alteration in MC4R (melanocortin 4 receptor) on Chromosome 18. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Obesity due to melanocortin 4 receptor deficiency | CTGTTATATGGCTCGTTCATGAATTATACACACCCTAACACTGTAAACCACTCCAGGAGAAGGTATGAACCTGAAGAAGGAGGAGCCAGGATCTGAGATGGCACTTGGAGGAGAAATAGGATAAACTGGGAAGGGCAGCCACCACAGAAGATGGGGTGTGCTCATAGCTCTCTTTTTCATATCTCTAGTCCCTGGGATTTTTCAGATTCATGAAATGAAAGAATGGACAGGAAACGTAGCAATGAAAAAAACATAACTGTGTCCCTCTACTGCTATAGACTATGATTGTTAGATTAGTGTATATTTAAATCCTCACATTC... | CTGTTATATGGCTCGTTCATGAATTATACACACCCTAACACTGTAAACCACTCCAGGAGAAGGTATGAACCTGAAGAAGGAGGAGCCAGGATCTGAGATGGCACTTGGAGGAGAAATAGGATAAACTGGGAAGGGCAGCCACCACAGAAGATGGGGTGTGCTCATAGCTCTCTTTTTCATATCTCTAGTCCCTGGGATTTTTCAGATTCATGAAATGAAAGAATGGACAGGAAACGTAGCAATGAAAAAAACATAACTGTGTCCCTCTACTGCTATAGACTATGATTGTTAGATTAGTGTATATTTAAATCCTCACATTC... |
Task1_train_26153 | This variant affects the gene MC4R (melanocortin 4 receptor) found on Chromosome 18. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Obesity | CTGTTATATGGCTCGTTCATGAATTATACACACCCTAACACTGTAAACCACTCCAGGAGAAGGTATGAACCTGAAGAAGGAGGAGCCAGGATCTGAGATGGCACTTGGAGGAGAAATAGGATAAACTGGGAAGGGCAGCCACCACAGAAGATGGGGTGTGCTCATAGCTCTCTTTTTCATATCTCTAGTCCCTGGGATTTTTCAGATTCATGAAATGAAAGAATGGACAGGAAACGTAGCAATGAAAAAAACATAACTGTGTCCCTCTACTGCTATAGACTATGATTGTTAGATTAGTGTATATTTAAATCCTCACATTC... | CTGTTATATGGCTCGTTCATGAATTATACACACCCTAACACTGTAAACCACTCCAGGAGAAGGTATGAACCTGAAGAAGGAGGAGCCAGGATCTGAGATGGCACTTGGAGGAGAAATAGGATAAACTGGGAAGGGCAGCCACCACAGAAGATGGGGTGTGCTCATAGCTCTCTTTTTCATATCTCTAGTCCCTGGGATTTTTCAGATTCATGAAATGAAAGAATGGACAGGAAACGTAGCAATGAAAAAAACATAACTGTGTCCCTCTACTGCTATAGACTATGATTGTTAGATTAGTGTATATTTAAATCCTCACATTC... |
Task1_train_26154 | A variant was discovered in gene MC4R (melanocortin 4 receptor), Chromosome 18. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; MC4R-related disorder | TGTGCTCATAGCTCTCTTTTTCATATCTCTAGTCCCTGGGATTTTTCAGATTCATGAAATGAAAGAATGGACAGGAAACGTAGCAATGAAAAAAACATAACTGTGTCCCTCTACTGCTATAGACTATGATTGTTAGATTAGTGTATATTTAAATCCTCACATTCACTTTTGCTTCAAAATAGAGGAATTGCAGTGGAATTAAAATTTCAGCTTTAGTACCACTTCTTATGTGTAAACTTTAACTTCACTATTATCCTTTAAGGTAGTGTTTTCAGATGAATGTTGAAAGTGTTTCTTGGGTCTTATAATCAGTGTAAAAC... | TGTGCTCATAGCTCTCTTTTTCATATCTCTAGTCCCTGGGATTTTTCAGATTCATGAAATGAAAGAATGGACAGGAAACGTAGCAATGAAAAAAACATAACTGTGTCCCTCTACTGCTATAGACTATGATTGTTAGATTAGTGTATATTTAAATCCTCACATTCACTTTTGCTTCAAAATAGAGGAATTGCAGTGGAATTAAAATTTCAGCTTTAGTACCACTTCTTATGTGTAAACTTTAACTTCACTATTATCCTTTAAGGTAGTGTTTTCAGATGAATGTTGAAAGTGTTTCTTGGGTCTTATAATCAGTGTAAAAC... |
Task1_train_26155 | A variant found in Chromosome 18 affects MC4R (melanocortin 4 receptor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | TGTGCTCATAGCTCTCTTTTTCATATCTCTAGTCCCTGGGATTTTTCAGATTCATGAAATGAAAGAATGGACAGGAAACGTAGCAATGAAAAAAACATAACTGTGTCCCTCTACTGCTATAGACTATGATTGTTAGATTAGTGTATATTTAAATCCTCACATTCACTTTTGCTTCAAAATAGAGGAATTGCAGTGGAATTAAAATTTCAGCTTTAGTACCACTTCTTATGTGTAAACTTTAACTTCACTATTATCCTTTAAGGTAGTGTTTTCAGATGAATGTTGAAAGTGTTTCTTGGGTCTTATAATCAGTGTAAAAC... | TGTGCTCATAGCTCTCTTTTTCATATCTCTAGTCCCTGGGATTTTTCAGATTCATGAAATGAAAGAATGGACAGGAAACGTAGCAATGAAAAAAACATAACTGTGTCCCTCTACTGCTATAGACTATGATTGTTAGATTAGTGTATATTTAAATCCTCACATTCACTTTTGCTTCAAAATAGAGGAATTGCAGTGGAATTAAAATTTCAGCTTTAGTACCACTTCTTATGTGTAAACTTTAACTTCACTATTATCCTTTAAGGTAGTGTTTTCAGATGAATGTTGAAAGTGTTTCTTGGGTCTTATAATCAGTGTAAAAC... |
Task1_train_26156 | A genetic alteration is present in MC4R (melanocortin 4 receptor) on Chromosome 18. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | TTAAATCCTCACATTCACTTTTGCTTCAAAATAGAGGAATTGCAGTGGAATTAAAATTTCAGCTTTAGTACCACTTCTTATGTGTAAACTTTAACTTCACTATTATCCTTTAAGGTAGTGTTTTCAGATGAATGTTGAAAGTGTTTCTTGGGTCTTATAATCAGTGTAAAACATTTAGATTTGAGTTAAGGAGTACCTTTGCATATGACTTCTGCCCATGAGCATTTGAAGACCCTGTAAATCCTAAGATAGTTTACTGGTAATCCTCAACCTAATATATTCTTTTGCTTTATTTTAAATTACACACAGATTAGAAAGTA... | TTAAATCCTCACATTCACTTTTGCTTCAAAATAGAGGAATTGCAGTGGAATTAAAATTTCAGCTTTAGTACCACTTCTTATGTGTAAACTTTAACTTCACTATTATCCTTTAAGGTAGTGTTTTCAGATGAATGTTGAAAGTGTTTCTTGGGTCTTATAATCAGTGTAAAACATTTAGATTTGAGTTAAGGAGTACCTTTGCATATGACTTCTGCCCATGAGCATTTGAAGACCCTGTAAATCCTAAGATAGTTTACTGGTAATCCTCAACCTAATATATTCTTTTGCTTTATTTTAAATTACACACAGATTAGAAAGTA... |
Task1_train_26157 | This variant lies on Chromosome 18 and affects the gene MC4R (melanocortin 4 receptor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | ATTCACTTTTGCTTCAAAATAGAGGAATTGCAGTGGAATTAAAATTTCAGCTTTAGTACCACTTCTTATGTGTAAACTTTAACTTCACTATTATCCTTTAAGGTAGTGTTTTCAGATGAATGTTGAAAGTGTTTCTTGGGTCTTATAATCAGTGTAAAACATTTAGATTTGAGTTAAGGAGTACCTTTGCATATGACTTCTGCCCATGAGCATTTGAAGACCCTGTAAATCCTAAGATAGTTTACTGGTAATCCTCAACCTAATATATTCTTTTGCTTTATTTTAAATTACACACAGATTAGAAAGTACAGTACAAATTT... | ATTCACTTTTGCTTCAAAATAGAGGAATTGCAGTGGAATTAAAATTTCAGCTTTAGTACCACTTCTTATGTGTAAACTTTAACTTCACTATTATCCTTTAAGGTAGTGTTTTCAGATGAATGTTGAAAGTGTTTCTTGGGTCTTATAATCAGTGTAAAACATTTAGATTTGAGTTAAGGAGTACCTTTGCATATGACTTCTGCCCATGAGCATTTGAAGACCCTGTAAATCCTAAGATAGTTTACTGGTAATCCTCAACCTAATATATTCTTTTGCTTTATTTTAAATTACACACAGATTAGAAAGTACAGTACAAATTT... |
Task1_train_26158 | A change on Chromosome 18 affects gene MC4R (melanocortin 4 receptor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | ATTATCCTTTAAGGTAGTGTTTTCAGATGAATGTTGAAAGTGTTTCTTGGGTCTTATAATCAGTGTAAAACATTTAGATTTGAGTTAAGGAGTACCTTTGCATATGACTTCTGCCCATGAGCATTTGAAGACCCTGTAAATCCTAAGATAGTTTACTGGTAATCCTCAACCTAATATATTCTTTTGCTTTATTTTAAATTACACACAGATTAGAAAGTACAGTACAAATTTTATTGCTCAGTGGCCAAATCTGTAGGATTATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCTAGTTTATTGCAT... | ATTATCCTTTAAGGTAGTGTTTTCAGATGAATGTTGAAAGTGTTTCTTGGGTCTTATAATCAGTGTAAAACATTTAGATTTGAGTTAAGGAGTACCTTTGCATATGACTTCTGCCCATGAGCATTTGAAGACCCTGTAAATCCTAAGATAGTTTACTGGTAATCCTCAACCTAATATATTCTTTTGCTTTATTTTAAATTACACACAGATTAGAAAGTACAGTACAAATTTTATTGCTCAGTGGCCAAATCTGTAGGATTATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCTAGTTTATTGCAT... |
Task1_train_26159 | Here is a mutation in MC4R (melanocortin 4 receptor) on Chromosome 18. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | TATGACTTCTGCCCATGAGCATTTGAAGACCCTGTAAATCCTAAGATAGTTTACTGGTAATCCTCAACCTAATATATTCTTTTGCTTTATTTTAAATTACACACAGATTAGAAAGTACAGTACAAATTTTATTGCTCAGTGGCCAAATCTGTAGGATTATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCTAGTTTATTGCATGACATCCTCTGGGGTTTGGTAGGTGCCTCCCTTCCTGCTTAAAATGTACCAGCATCACAGATACCTTTATTTTAGTTATTTACAAATATTGCCAGAAAACAC... | TATGACTTCTGCCCATGAGCATTTGAAGACCCTGTAAATCCTAAGATAGTTTACTGGTAATCCTCAACCTAATATATTCTTTTGCTTTATTTTAAATTACACACAGATTAGAAAGTACAGTACAAATTTTATTGCTCAGTGGCCAAATCTGTAGGATTATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCTAGTTTATTGCATGACATCCTCTGGGGTTTGGTAGGTGCCTCCCTTCCTGCTTAAAATGTACCAGCATCACAGATACCTTTATTTTAGTTATTTACAAATATTGCCAGAAAACAC... |
Task1_train_26160 | Here’s a variant in MC4R (melanocortin 4 receptor) located on Chromosome 18. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | GAGCATTTGAAGACCCTGTAAATCCTAAGATAGTTTACTGGTAATCCTCAACCTAATATATTCTTTTGCTTTATTTTAAATTACACACAGATTAGAAAGTACAGTACAAATTTTATTGCTCAGTGGCCAAATCTGTAGGATTATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCTAGTTTATTGCATGACATCCTCTGGGGTTTGGTAGGTGCCTCCCTTCCTGCTTAAAATGTACCAGCATCACAGATACCTTTATTTTAGTTATTTACAAATATTGCCAGAAAACACTTCTGCTATGAATTTG... | GAGCATTTGAAGACCCTGTAAATCCTAAGATAGTTTACTGGTAATCCTCAACCTAATATATTCTTTTGCTTTATTTTAAATTACACACAGATTAGAAAGTACAGTACAAATTTTATTGCTCAGTGGCCAAATCTGTAGGATTATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCTAGTTTATTGCATGACATCCTCTGGGGTTTGGTAGGTGCCTCCCTTCCTGCTTAAAATGTACCAGCATCACAGATACCTTTATTTTAGTTATTTACAAATATTGCCAGAAAACACTTCTGCTATGAATTTG... |
Task1_train_26161 | The variant affects gene MC4R (melanocortin 4 receptor), which is on Chromosome 18. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | ATCCTAAGATAGTTTACTGGTAATCCTCAACCTAATATATTCTTTTGCTTTATTTTAAATTACACACAGATTAGAAAGTACAGTACAAATTTTATTGCTCAGTGGCCAAATCTGTAGGATTATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCTAGTTTATTGCATGACATCCTCTGGGGTTTGGTAGGTGCCTCCCTTCCTGCTTAAAATGTACCAGCATCACAGATACCTTTATTTTAGTTATTTACAAATATTGCCAGAAAACACTTCTGCTATGAATTTGGTTTTGAAGTTTAAAATCCTT... | ATCCTAAGATAGTTTACTGGTAATCCTCAACCTAATATATTCTTTTGCTTTATTTTAAATTACACACAGATTAGAAAGTACAGTACAAATTTTATTGCTCAGTGGCCAAATCTGTAGGATTATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCTAGTTTATTGCATGACATCCTCTGGGGTTTGGTAGGTGCCTCCCTTCCTGCTTAAAATGTACCAGCATCACAGATACCTTTATTTTAGTTATTTACAAATATTGCCAGAAAACACTTCTGCTATGAATTTGGTTTTGAAGTTTAAAATCCTT... |
Task1_train_26162 | The following genetic variant occurs in MC4R (melanocortin 4 receptor) on Chromosome 18. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Obesity, autosomal dominant | CACACAGATTAGAAAGTACAGTACAAATTTTATTGCTCAGTGGCCAAATCTGTAGGATTATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCTAGTTTATTGCATGACATCCTCTGGGGTTTGGTAGGTGCCTCCCTTCCTGCTTAAAATGTACCAGCATCACAGATACCTTTATTTTAGTTATTTACAAATATTGCCAGAAAACACTTCTGCTATGAATTTGGTTTTGAAGTTTAAAATCCTTGATAATCAACATTTGTACTCCAGTTCAAAAAATCAGCAATAAGTAAACAGCAAGTCATTTTC... | CACACAGATTAGAAAGTACAGTACAAATTTTATTGCTCAGTGGCCAAATCTGTAGGATTATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCTAGTTTATTGCATGACATCCTCTGGGGTTTGGTAGGTGCCTCCCTTCCTGCTTAAAATGTACCAGCATCACAGATACCTTTATTTTAGTTATTTACAAATATTGCCAGAAAACACTTCTGCTATGAATTTGGTTTTGAAGTTTAAAATCCTTGATAATCAACATTTGTACTCCAGTTCAAAAAATCAGCAATAAGTAAACAGCAAGTCATTTTC... |
Task1_train_26163 | With a mutation on Chromosome 18 in gene MC4R (melanocortin 4 receptor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Obesity due to melanocortin 4 receptor deficiency | TACAAATTTTATTGCTCAGTGGCCAAATCTGTAGGATTATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCTAGTTTATTGCATGACATCCTCTGGGGTTTGGTAGGTGCCTCCCTTCCTGCTTAAAATGTACCAGCATCACAGATACCTTTATTTTAGTTATTTACAAATATTGCCAGAAAACACTTCTGCTATGAATTTGGTTTTGAAGTTTAAAATCCTTGATAATCAACATTTGTACTCCAGTTCAAAAAATCAGCAATAAGTAAACAGCAAGTCATTTTCATGTGAAATGAGAAAGAATTC... | TACAAATTTTATTGCTCAGTGGCCAAATCTGTAGGATTATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCTAGTTTATTGCATGACATCCTCTGGGGTTTGGTAGGTGCCTCCCTTCCTGCTTAAAATGTACCAGCATCACAGATACCTTTATTTTAGTTATTTACAAATATTGCCAGAAAACACTTCTGCTATGAATTTGGTTTTGAAGTTTAAAATCCTTGATAATCAACATTTGTACTCCAGTTCAAAAAATCAGCAATAAGTAAACAGCAAGTCATTTTCATGTGAAATGAGAAAGAATTC... |
Task1_train_26164 | A variant affecting Chromosome 18, within the gene MC4R (melanocortin 4 receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | GCTCAGTGGCCAAATCTGTAGGATTATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCTAGTTTATTGCATGACATCCTCTGGGGTTTGGTAGGTGCCTCCCTTCCTGCTTAAAATGTACCAGCATCACAGATACCTTTATTTTAGTTATTTACAAATATTGCCAGAAAACACTTCTGCTATGAATTTGGTTTTGAAGTTTAAAATCCTTGATAATCAACATTTGTACTCCAGTTCAAAAAATCAGCAATAAGTAAACAGCAAGTCATTTTCATGTGAAATGAGAAAGAATTCGATGTCAGTCCTG... | GCTCAGTGGCCAAATCTGTAGGATTATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCTAGTTTATTGCATGACATCCTCTGGGGTTTGGTAGGTGCCTCCCTTCCTGCTTAAAATGTACCAGCATCACAGATACCTTTATTTTAGTTATTTACAAATATTGCCAGAAAACACTTCTGCTATGAATTTGGTTTTGAAGTTTAAAATCCTTGATAATCAACATTTGTACTCCAGTTCAAAAAATCAGCAATAAGTAAACAGCAAGTCATTTTCATGTGAAATGAGAAAGAATTCGATGTCAGTCCTG... |
Task1_train_26165 | Gene MC4R (melanocortin 4 receptor), found on Chromosome 18, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | TATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCTAGTTTATTGCATGACATCCTCTGGGGTTTGGTAGGTGCCTCCCTTCCTGCTTAAAATGTACCAGCATCACAGATACCTTTATTTTAGTTATTTACAAATATTGCCAGAAAACACTTCTGCTATGAATTTGGTTTTGAAGTTTAAAATCCTTGATAATCAACATTTGTACTCCAGTTCAAAAAATCAGCAATAAGTAAACAGCAAGTCATTTTCATGTGAAATGAGAAAGAATTCGATGTCAGTCCTGTACTTCTCTAGAAACAGGAAGCTA... | TATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCTAGTTTATTGCATGACATCCTCTGGGGTTTGGTAGGTGCCTCCCTTCCTGCTTAAAATGTACCAGCATCACAGATACCTTTATTTTAGTTATTTACAAATATTGCCAGAAAACACTTCTGCTATGAATTTGGTTTTGAAGTTTAAAATCCTTGATAATCAACATTTGTACTCCAGTTCAAAAAATCAGCAATAAGTAAACAGCAAGTCATTTTCATGTGAAATGAGAAAGAATTCGATGTCAGTCCTGTACTTCTCTAGAAACAGGAAGCTA... |
Task1_train_26166 | The gene PIGN (phosphatidylinositol glycan anchor biosynthesis class N) on Chromosome 18 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Multiple congenital anomalies-hypotonia-seizures syndrome 1 | TGATTTGACACTGAGAAGATGTACTGATTGAAATGACTGAACTGTGCTATTTCAAGATACTCTTTTTAATTTTTTTTGGCAAAGCTAGATATACTTTCTGATGTTGAATAATGTATCTCTTAATGAATTCATTAACAAGGTTATATAGTGCCTTATTATTCTGATTTTAGGTATAAATTTTCACTTTTTAGATTTTCTTAAAATAAGTTATGATTATGATTATGCTTATTATGATAATTTGTTTGGGCATCTCCTATGACTATTAAATTGATGATTTAAAATATTTATCCCCTATGTAAGTTACATGATTAACTAATGCT... | TGATTTGACACTGAGAAGATGTACTGATTGAAATGACTGAACTGTGCTATTTCAAGATACTCTTTTTAATTTTTTTTGGCAAAGCTAGATATACTTTCTGATGTTGAATAATGTATCTCTTAATGAATTCATTAACAAGGTTATATAGTGCCTTATTATTCTGATTTTAGGTATAAATTTTCACTTTTTAGATTTTCTTAAAATAAGTTATGATTATGATTATGCTTATTATGATAATTTGTTTGGGCATCTCCTATGACTATTAAATTGATGATTTAAAATATTTATCCCCTATGTAAGTTACATGATTAACTAATGCT... |
Task1_train_26167 | Gene PIGN (phosphatidylinositol glycan anchor biosynthesis class N), found on Chromosome 18, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Multiple congenital anomalies-hypotonia-seizures syndrome 1 | TATTTAGGTCTATTGAAGAGAAATAAATATAGCAGCACAGTAAGGAATTTAGGTAAGATATGCAGAAGAATTTTCAAACAATTTGAGTGGTTAAACATGGGAAAGCTGGCAAGGTGAATAGAGTTTCCTCCCATGGAGATCTTTACATTCAATTTAGAATAGCAGAAAATTTAATTTTTACATGACATTTTAGTGTGGACATGATTAAAGCAAAGAGGGCTAACACAGTAGCTTTGAGACATTTTTGTTTTGGCAACAGAATGTTTTTTCACATGAAACTAAAACTTTTACTGATTCCTCCAAGCATAAAAGAAAGAAAA... | TATTTAGGTCTATTGAAGAGAAATAAATATAGCAGCACAGTAAGGAATTTAGGTAAGATATGCAGAAGAATTTTCAAACAATTTGAGTGGTTAAACATGGGAAAGCTGGCAAGGTGAATAGAGTTTCCTCCCATGGAGATCTTTACATTCAATTTAGAATAGCAGAAAATTTAATTTTTACATGACATTTTAGTGTGGACATGATTAAAGCAAAGAGGGCTAACACAGTAGCTTTGAGACATTTTTGTTTTGGCAACAGAATGTTTTTTCACATGAAACTAAAACTTTTACTGATTCCTCCAAGCATAAAAGAAAGAAAA... |
Task1_train_26168 | Here is a mutation in PIGN (phosphatidylinositol glycan anchor biosynthesis class N) on Chromosome 18. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Multiple congenital anomalies-hypotonia-seizures syndrome 1 | ACTGCCAAAAGAGTTATAAGATATTTGTATAATAAAATTTCATTCAATAAGCTAATTAAAGTTTAAAAATACGTTTCTGACTCTACCAAAAATTCACACTAATCAGTTGATGAAAAAATGCCCATTCCTTTTCTCTAAAATGTATGATATTTAATATTCATATGAGAAAAAATACATTTCTGATGATTCTTGAAATCATGTGATTCTAAAACGTCAATTCAACATGAAATCAAATGCCAAAATAAAGTTAAATCTCATAAATACAAACATACTATTTACCCTACTTTCTATTTTGATCCAATCTAATCCATTTACCACAG... | ACTGCCAAAAGAGTTATAAGATATTTGTATAATAAAATTTCATTCAATAAGCTAATTAAAGTTTAAAAATACGTTTCTGACTCTACCAAAAATTCACACTAATCAGTTGATGAAAAAATGCCCATTCCTTTTCTCTAAAATGTATGATATTTAATATTCATATGAGAAAAAATACATTTCTGATGATTCTTGAAATCATGTGATTCTAAAACGTCAATTCAACATGAAATCAAATGCCAAAATAAAGTTAAATCTCATAAATACAAACATACTATTTACCCTACTTTCTATTTTGATCCAATCTAATCCATTTACCACAG... |
Task1_train_26169 | This gene mutation involves PIGN (phosphatidylinositol glycan anchor biosynthesis class N) on Chromosome 18. Is it associated with any clinical condition, or is it benign? | Pathogenic; Multiple congenital anomalies-hypotonia-seizures syndrome 1 | GAGACACGGCAAGAACCTGTCTCTAAGGAAACTGGCGGGGGGGGGGGGGCAGGGTGGAGAAAGGAGCCCAGTCCTACCTCCTCTTTTATCATATCACCCTAATTTTCTTCATAAAATTATCATAATGTGTAAGTTTTGTTTATAGTTGCTTTAATTCTCCTACTAGAATGTTAAGTTCTGAGAAAGCAGGGGCTATCTCAAAGATATGTAGTAGATGAAAAAAAGAGTCCACTAGCTTCTTTTTCTTTCATGCTTAAATAAATCTGGAAATAATCATGGCAGTGTACTGGTTACACTGTTCTGGCCTTTTGTCAATGTCT... | GAGACACGGCAAGAACCTGTCTCTAAGGAAACTGGCGGGGGGGGGGGGGCAGGGTGGAGAAAGGAGCCCAGTCCTACCTCCTCTTTTATCATATCACCCTAATTTTCTTCATAAAATTATCATAATGTGTAAGTTTTGTTTATAGTTGCTTTAATTCTCCTACTAGAATGTTAAGTTCTGAGAAAGCAGGGGCTATCTCAAAGATATGTAGTAGATGAAAAAAAGAGTCCACTAGCTTCTTTTTCTTTCATGCTTAAATAAATCTGGAAATAATCATGGCAGTGTACTGGTTACACTGTTCTGGCCTTTTGTCAATGTCT... |
Task1_train_26170 | A mutation in TNFRSF11A (TNF receptor superfamily member 11a), located on Chromosome 18, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal recessive osteopetrosis 7 | GAAATACAGTCCAACTTCATATTTATCCTGTTTGCCTTGTCATCAGCATTGCAACAATGCTCATGAATCCTTAGGCTCGGATGAATCCAGCTTTTTGACCCAGTTTGCATGGCCGCATGTAGTTTTACCACTTTGCCTCTTTCTTCTGTGCATGTACATTACACACAGAGGGAGACAGAGAAGGGTGGCATCTAAAACAGAGAAAAGCATCTCAGAAGGGAGAGGTGTGGTGGCTTCTTTTAAGCAATTCTTCCTCAGTCCGCTGGGCTCAATGCAGCTTCCCTAAGACTCTGTCACCCAGTGAATACATGGGGAGCATC... | GAAATACAGTCCAACTTCATATTTATCCTGTTTGCCTTGTCATCAGCATTGCAACAATGCTCATGAATCCTTAGGCTCGGATGAATCCAGCTTTTTGACCCAGTTTGCATGGCCGCATGTAGTTTTACCACTTTGCCTCTTTCTTCTGTGCATGTACATTACACACAGAGGGAGACAGAGAAGGGTGGCATCTAAAACAGAGAAAAGCATCTCAGAAGGGAGAGGTGTGGTGGCTTCTTTTAAGCAATTCTTCCTCAGTCCGCTGGGCTCAATGCAGCTTCCCTAAGACTCTGTCACCCAGTGAATACATGGGGAGCATC... |
Task1_train_26171 | Here is a variant affecting TNFRSF11A (TNF receptor superfamily member 11a) on Chromosome 18. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive osteopetrosis 7 | CTAACTGACACATTCGGTCTTTATTATCAAATGCATTGACTAAACCAGATGTGCTTTCTCTTACAAAAAGTCTGACTTGATTTTTTAATGGTTAAAATGGATCTCCCTATCACAGCCAACTCCCTCTGAATTCTGATTCTAAAATAGAAGAGGCCCAGAGCCTTTCCTTTAGGTTTTCACCAGCATGTCACATCAGGGATTCTATTAGACTTTCTCTCTGCCTTGTACCTTTGGAAATGGGTTCATTTTTGGACAAAATAGGTTGAGGATAGAGGGGAAACGGTAGATGAATGGAAATTTCACTCCTGTCCCACCCTGCA... | CTAACTGACACATTCGGTCTTTATTATCAAATGCATTGACTAAACCAGATGTGCTTTCTCTTACAAAAAGTCTGACTTGATTTTTTAATGGTTAAAATGGATCTCCCTATCACAGCCAACTCCCTCTGAATTCTGATTCTAAAATAGAAGAGGCCCAGAGCCTTTCCTTTAGGTTTTCACCAGCATGTCACATCAGGGATTCTATTAGACTTTCTCTCTGCCTTGTACCTTTGGAAATGGGTTCATTTTTGGACAAAATAGGTTGAGGATAGAGGGGAAACGGTAGATGAATGGAAATTTCACTCCTGTCCCACCCTGCA... |
Task1_train_26172 | This gene mutation involves TNFRSF11A (TNF receptor superfamily member 11a) on Chromosome 18. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive osteopetrosis 7 | TCGGTGACCAGGGGAGTGGCTCAGAACAACAAAGGGTCATGACCAGAGCTAGCCTGACCTGGACATCACATACCAGTGTTAGTGGCCTGACATCAAGTCAGTTACCTTTCTGAGCGTGGTTCCATAACTCACTGCTGGGGTCAGAACTGCTCTGTGGGCCCAAGCCTGTGGGAGCTGAAGAAGTTAGACACAGGGGTGGGCACAGGGGTGGGAGGTGAGGGCAGAGAGGGGCAGCGCCTCACCTCCAGTCCTCTGGAGTCCCAGCCTGGATGATCTCTAAGTGACCTCGTTTGTTTTTTGTTTGTTCTGTCTGGGTTGTT... | TCGGTGACCAGGGGAGTGGCTCAGAACAACAAAGGGTCATGACCAGAGCTAGCCTGACCTGGACATCACATACCAGTGTTAGTGGCCTGACATCAAGTCAGTTACCTTTCTGAGCGTGGTTCCATAACTCACTGCTGGGGTCAGAACTGCTCTGTGGGCCCAAGCCTGTGGGAGCTGAAGAAGTTAGACACAGGGGTGGGCACAGGGGTGGGAGGTGAGGGCAGAGAGGGGCAGCGCCTCACCTCCAGTCCTCTGGAGTCCCAGCCTGGATGATCTCTAAGTGACCTCGTTTGTTTTTTGTTTGTTCTGTCTGGGTTGTT... |
Task1_train_26173 | A mutation found in TNFRSF11A (TNF receptor superfamily member 11a) on Chromosome 18 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal recessive osteopetrosis 7 | GAGAACACAGGCAGCGTTTGCTTTTGTTTATTTGTTTGTCCCACCTTGTGCTGTTCTCCTCCCTGTGGAAGGCACAGGGGATTCAAATGTCCAAGAAGGCGTGGGTTCCTCTCCTGAAGGAGCTGGCAATCTGGGAGAGTTTTGCATTTGTTCACTTTTTAAAAAACAAGCTTATAAAACCAAAGCACTGAACCACCTTTTCCCCCACAGCTGTACCTTCCTTGGAAAGAGAGTAGAACATCATGGGACAGAGAAATCCGATGCGGTTTGCAGTTCTTCTCTGCCAGCTAGAAAACCACCAAATGGTATGTTTAAAAAGA... | GAGAACACAGGCAGCGTTTGCTTTTGTTTATTTGTTTGTCCCACCTTGTGCTGTTCTCCTCCCTGTGGAAGGCACAGGGGATTCAAATGTCCAAGAAGGCGTGGGTTCCTCTCCTGAAGGAGCTGGCAATCTGGGAGAGTTTTGCATTTGTTCACTTTTTAAAAAACAAGCTTATAAAACCAAAGCACTGAACCACCTTTTCCCCCACAGCTGTACCTTCCTTGGAAAGAGAGTAGAACATCATGGGACAGAGAAATCCGATGCGGTTTGCAGTTCTTCTCTGCCAGCTAGAAAACCACCAAATGGTATGTTTAAAAAGA... |
Task1_train_26174 | The gene KDSR (3-ketodihydrosphingosine reductase), on Chromosome 18, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Erythrokeratodermia variabilis et progressiva 4 | GCCAGGTGAAGCAACTAGCTGGATGCATCATCTGCTGCAAAAGGGCAGCAGACCTGGGGTCAAGGCTTGGATCGTGTTGTGATTTCTGTCACTAAGTAACTATGTGACTTTGAGCAACACACTGAATTTACTGAAAACTGGGTTTTCCTCTCATCAGGTGGCATCACAACATCTCCCTCACATACTTTACAAAACTTTATAAAATGGTGGCTGGGTGTGCTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTAAAGCCAGAAGATTGTTTGAGCTTAGGCGTTTGAGACCAGCTTTGGCAACACAGTGAGACCCCT... | GCCAGGTGAAGCAACTAGCTGGATGCATCATCTGCTGCAAAAGGGCAGCAGACCTGGGGTCAAGGCTTGGATCGTGTTGTGATTTCTGTCACTAAGTAACTATGTGACTTTGAGCAACACACTGAATTTACTGAAAACTGGGTTTTCCTCTCATCAGGTGGCATCACAACATCTCCCTCACATACTTTACAAAACTTTATAAAATGGTGGCTGGGTGTGCTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTAAAGCCAGAAGATTGTTTGAGCTTAGGCGTTTGAGACCAGCTTTGGCAACACAGTGAGACCCCT... |
Task1_train_26175 | This mutation occurs in SERPINB8 (serpin family B member 8) on Chromosome 18. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Peeling skin syndrome 5 | TGAGATGAGTTGGTGAACTGCAATATTTTATGAAATAGCCCACGTTTTTATAGGGTTTAATAGATATAAACAACAATGTAGGACTTATAATAATGCACTAAAATTATAATAATAGTAAACTGTAATAGCTTTTTAGCACTTTAAGCAAGGTGCCCCCCTAGATTAGGCTCCTACCTTCCACAGAACTGGTTGATAGGGATGCTATCTTTCTTGATGATTACATTTCAAAAGGATGGCTTCCAGGTCTTTGAGAGACTGTCCTGGGATGTAAAACTAGCAAGAAGCTTTTTTAAAAGATTTACATCTCAAAGGGGCTGATA... | TGAGATGAGTTGGTGAACTGCAATATTTTATGAAATAGCCCACGTTTTTATAGGGTTTAATAGATATAAACAACAATGTAGGACTTATAATAATGCACTAAAATTATAATAATAGTAAACTGTAATAGCTTTTTAGCACTTTAAGCAAGGTGCCCCCCTAGATTAGGCTCCTACCTTCCACAGAACTGGTTGATAGGGATGCTATCTTTCTTGATGATTACATTTCAAAAGGATGGCTTCCAGGTCTTTGAGAGACTGTCCTGGGATGTAAAACTAGCAAGAAGCTTTTTTAAAAGATTTACATCTCAAAGGGGCTGATA... |
Task1_train_26176 | Given this context: Chromosome 18, gene RTTN (rotatin) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | AAGAATTAAAATCATAGAAAATATTTTCTAATGTCAATATTTAGCTAAATATTAATAATAAAATAACTAGAAAACCTAATAAACTAAATCTTCACTAGTTACCCCCAATAACTCTAAACAACCCTTGCATCAATAAAAAAAAATCACAAAACACTTAGAAAATATTTTGAACTAAATAATAAAATATGGCATATCAAATTCGTGGAATATACCAAAAGCCATACTTAGAAACATTGATAGCTTTAAATGAAAGGGCGGCTAATAATCAATGGCCAATCCTCCAGTAAGTTAGAAAATGAACAGAAAATTAAGTTTGAAAA... | AAGAATTAAAATCATAGAAAATATTTTCTAATGTCAATATTTAGCTAAATATTAATAATAAAATAACTAGAAAACCTAATAAACTAAATCTTCACTAGTTACCCCCAATAACTCTAAACAACCCTTGCATCAATAAAAAAAAATCACAAAACACTTAGAAAATATTTTGAACTAAATAATAAAATATGGCATATCAAATTCGTGGAATATACCAAAAGCCATACTTAGAAACATTGATAGCTTTAAATGAAAGGGCGGCTAATAATCAATGGCCAATCCTCCAGTAAGTTAGAAAATGAACAGAAAATTAAGTTTGAAAA... |
Task1_train_26177 | This alteration occurs within gene RTTN (rotatin) located on Chromosome 18. Is it associated with a disease or is it a benign variant? | Pathogenic; MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | GTCGTGTGAGTTTCATTATTTAGCCAAACTAAACACCATTAAGACTGGTAATGCAAATACCAAAGGCTAGTGAGGATGTGGGGCAGCTAGTACTTTTCCACTGATGGTAGGAATGTAAATCAGCACAACAACTTCGTAATACTGTCTGGTAACATCTACTAAAGCTAAACATAAATATCCTATATTCCAACAATGACACGTGTTCAAGAATGTTCTTAGCAGTCATTTCTTCATAATAGCCCAAAACAGAAAACAAATTAAACATCCACAAATAGAATGGTAAATAAAAGTGTTGTATATTCTTAGACAGAATACTACAT... | GTCGTGTGAGTTTCATTATTTAGCCAAACTAAACACCATTAAGACTGGTAATGCAAATACCAAAGGCTAGTGAGGATGTGGGGCAGCTAGTACTTTTCCACTGATGGTAGGAATGTAAATCAGCACAACAACTTCGTAATACTGTCTGGTAACATCTACTAAAGCTAAACATAAATATCCTATATTCCAACAATGACACGTGTTCAAGAATGTTCTTAGCAGTCATTTCTTCATAATAGCCCAAAACAGAAAACAAATTAAACATCCACAAATAGAATGGTAAATAAAAGTGTTGTATATTCTTAGACAGAATACTACAT... |
Task1_train_26178 | This gene mutation involves ZNF407 (zinc finger protein 407) on Chromosome 18. Is it associated with any clinical condition, or is it benign? | Pathogenic; Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | AATCATACACATAAAAAAATCAAAGTCACTAATGTATTGAGAATCAACTCACATAGAAAATTAATAATTTTGTCTTTTTGTATGTATAAATCTTAAAATAGGGAAAGGAATAAAAATATATAAAGCATATATGTAAGTATGCAGCATCTATGCATGTAGAAAATATAAATCTTAAGAGGGATTTTCTATGCTTGTTCATGTTTCTATTTTACAAGATGCAGGCCACAAAGAAGTTCATAAATGACAGAAAGGAAGAATACTTGAATCCAGAAGTCCTAAGATTGCTCTTTCCTCATTAGAAATTTTGCTTATTGAATGAT... | AATCATACACATAAAAAAATCAAAGTCACTAATGTATTGAGAATCAACTCACATAGAAAATTAATAATTTTGTCTTTTTGTATGTATAAATCTTAAAATAGGGAAAGGAATAAAAATATATAAAGCATATATGTAAGTATGCAGCATCTATGCATGTAGAAAATATAAATCTTAAGAGGGATTTTCTATGCTTGTTCATGTTTCTATTTTACAAGATGCAGGCCACAAAGAAGTTCATAAATGACAGAAAGGAAGAATACTTGAATCCAGAAGTCCTAAGATTGCTCTTTCCTCATTAGAAATTTTGCTTATTGAATGAT... |
Task1_train_26179 | Gene HCN2 (hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Febrile seizures, familial, 2 | AGGCGTCTTTCTGCTTCTCCCACTGCCAGGCATGGGCGGTTCTCGTGCCGTGCGGGTCCCGCCTCCTCCCTGCTCCCAGCCGCGAGCCCTGGGGCTCTGGCGACCTGCCCGGCCTGACATCTTCCCAGGGTGAACATAAAAGAACCCCCTTCAGCTGGAGCACGCATCTGCCTCGGGGCGGGCCACAGCCTGGCACTGCCAACTGTGCCGCCCGCCCGGCCTCTCCCGCACCACCTTGGGACAAACAGCTGTCCTGCCCGCCTATGCGGAGGTGGCCGGCGGGGCCGGCGTGGGGGCGCAGGGATCCCCAGGGTGTGGGG... | AGGCGTCTTTCTGCTTCTCCCACTGCCAGGCATGGGCGGTTCTCGTGCCGTGCGGGTCCCGCCTCCTCCCTGCTCCCAGCCGCGAGCCCTGGGGCTCTGGCGACCTGCCCGGCCTGACATCTTCCCAGGGTGAACATAAAAGAACCCCCTTCAGCTGGAGCACGCATCTGCCTCGGGGCGGGCCACAGCCTGGCACTGCCAACTGTGCCGCCCGCCCGGCCTCTCCCGCACCACCTTGGGACAAACAGCTGTCCTGCCCGCCTATGCGGAGGTGGCCGGCGGGGCCGGCGTGGGGGCGCAGGGATCCCCAGGGTGTGGGG... |
Task1_train_26180 | This alteration in HCN2 (hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; HCN2 related developmental and epileptic encephalopathy | GGACAAACAGCTGTCCTGCCCGCCTATGCGGAGGTGGCCGGCGGGGCCGGCGTGGGGGCGCAGGGATCCCCAGGGTGTGGGGCAGCCAGGCCGAGGCGAGAGACACGGTCGGGCTCAGCCCATCCACTGTCAGCCGGGCACATGCTGGCCCTCCCTCAAGTACCACTGAGTGCCTCCTGGGTGTAGGAAGAGGGCCATCTCTGCCCCGGTGGCCTCGAGGTGCAGATGGGTGGGGGGCACCCGGCACACGGGACATCGTGGCTGAGAGGACGTCAGGCCAGGTGCCAGGAGGGTCCCAGGAGGGCCTCCTGCCTCCAGGT... | GGACAAACAGCTGTCCTGCCCGCCTATGCGGAGGTGGCCGGCGGGGCCGGCGTGGGGGCGCAGGGATCCCCAGGGTGTGGGGCAGCCAGGCCGAGGCGAGAGACACGGTCGGGCTCAGCCCATCCACTGTCAGCCGGGCACATGCTGGCCCTCCCTCAAGTACCACTGAGTGCCTCCTGGGTGTAGGAAGAGGGCCATCTCTGCCCCGGTGGCCTCGAGGTGCAGATGGGTGGGGGGCACCCGGCACACGGGACATCGTGGCTGAGAGGACGTCAGGCCAGGTGCCAGGAGGGTCCCAGGAGGGCCTCCTGCCTCCAGGT... |
Task1_train_26181 | This gene mutation involves HCN2, LOC129391015 (hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2| MPRA-validated peak3211 silencer) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; HCN2 related developmental and epileptic encephalopathy | CGCAGGCCCTGAACCGACAGGACCTTTTCTGCCAGAGCTTCCCAGGGAGAGTTTTGGGATCCACCTTGGGGACTTGGACTCTGGCCGGGTGTATCTGGGAGTGGAAACGCCCTCTGGTCTCTTGTCCACGGGTATTTATCATACGGAACGTCCGAATGGTGCCAAGTCCGGCTCGGCCGTTCCTCCCACCCTCTCGGCCTCCCCTGTGGCGCCAGCCCCGTCTCTGCTTGGCTTCCCTCCCTCCTGTGTGGACGCCCCACTTCCTCCCCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACG... | CGCAGGCCCTGAACCGACAGGACCTTTTCTGCCAGAGCTTCCCAGGGAGAGTTTTGGGATCCACCTTGGGGACTTGGACTCTGGCCGGGTGTATCTGGGAGTGGAAACGCCCTCTGGTCTCTTGTCCACGGGTATTTATCATACGGAACGTCCGAATGGTGCCAAGTCCGGCTCGGCCGTTCCTCCCACCCTCTCGGCCTCCCCTGTGGCGCCAGCCCCGTCTCTGCTTGGCTTCCCTCCCTCCTGTGTGGACGCCCCACTTCCTCCCCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACG... |
Task1_train_26182 | Given this context: Chromosome 19, gene HCN2 (hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; HCN2 related developmental and epileptic encephalopathy | GCCTGAGGTGTGGGCACCCTCGCCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAGGCACCAGCTTGAGGTGTGGGTGCCCCTCGTCCCACAGGGAAGAGGGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAATGCACCAGCCTGAGCTGTGGGCACCCTCGCCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGGAAGGCACCAGCCTGAGGTGTGGGCACCCTCGCCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAGGCACCAGCCTGA... | GCCTGAGGTGTGGGCACCCTCGCCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAGGCACCAGCTTGAGGTGTGGGTGCCCCTCGTCCCACAGGGAAGAGGGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAATGCACCAGCCTGAGCTGTGGGCACCCTCGCCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGGAAGGCACCAGCCTGAGGTGTGGGCACCCTCGCCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAGGCACCAGCCTGA... |
Task1_train_26183 | An alteration has been detected in HCN2 (hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; HCN2 related developmental and epileptic encephalopathy | CTGGCCCCTTAATGTCCCTGGGGGTCTGAAACAGCCACTTGGAACCTTTCAGGCCTGGGATCATCCGTGGAGAGAAGCTGAGTGTGGTTATGATGAGTCCTGTCACCCAGACATCTGCTTAGCGCGTTTTCCAATGGATTTCCCTTTTAATTAACCCACATTAATTATTATTATTTTATTTACTTATTTTTTTTTGAGACTGAGTTTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACCACAAACCCCACCTCCCAGGGTTCAAGGGATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACA... | CTGGCCCCTTAATGTCCCTGGGGGTCTGAAACAGCCACTTGGAACCTTTCAGGCCTGGGATCATCCGTGGAGAGAAGCTGAGTGTGGTTATGATGAGTCCTGTCACCCAGACATCTGCTTAGCGCGTTTTCCAATGGATTTCCCTTTTAATTAACCCACATTAATTATTATTATTTTATTTACTTATTTTTTTTTGAGACTGAGTTTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACCACAAACCCCACCTCCCAGGGTTCAAGGGATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACA... |
Task1_train_26184 | This variant affects gene HCN2 (hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; HCN2 related developmental and epileptic encephalopathy | AGAGTCAGGCCAGGCCCTGGGGTCTGATGGAGGGAGGCAGGCCCGGTCCTGGGGTCTGAGGCTGGAGGGAGGCCTTGCCCTGGGGTCTGAGGGCGGAGGTAGTCCTTGTCCCGGGGTCTGAGGGGAGGGGCGGGCCCGGCCCCGGGGTCTGAGGGGAGAGGCAGTCTCAGCCCTTCACTCAGCTTCAAGTGGCGCGCTCAGGGCAGAGACCGCGTGATGGGGAGCAGGGGACCCTGGGGGTCTGTGGCTGTGATTAGGAGGAGAAACGGCCGGTGGTGAGAGGTTCTCTGACCCTGTGACAGGGAGGGAGGTCCAGAGCC... | AGAGTCAGGCCAGGCCCTGGGGTCTGATGGAGGGAGGCAGGCCCGGTCCTGGGGTCTGAGGCTGGAGGGAGGCCTTGCCCTGGGGTCTGAGGGCGGAGGTAGTCCTTGTCCCGGGGTCTGAGGGGAGGGGCGGGCCCGGCCCCGGGGTCTGAGGGGAGAGGCAGTCTCAGCCCTTCACTCAGCTTCAAGTGGCGCGCTCAGGGCAGAGACCGCGTGATGGGGAGCAGGGGACCCTGGGGGTCTGTGGCTGTGATTAGGAGGAGAAACGGCCGGTGGTGAGAGGTTCTCTGACCCTGTGACAGGGAGGGAGGTCCAGAGCC... |
Task1_train_26185 | Assess the clinical impact of this variant on gene HCN2 (hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; HCN2 related developmental and epileptic encephalopathy | ACATCAGCAAGGCCGTGTGTGAGCCAGGCAGGGTGTCCCCGGTGTAGCACCTGGCTCGGGCAGAGGCCCCGAGGAGGGGCTGGAGGAGCTGGGCGAGGAGGCGGGCAGGACGGGCCTGACACTAGGGACCTCGGGCCCCGGGAATGCCTCTGGGGGGGCGTGTACACCCGTTGCTCCCAGGAGGCACACACTGCGGTTCGCTTCGCCAAGAATGTTTAATTGCATTTGATGACTACGGTTTCCATTCATTCATTTGTAGAGATATAACACTCAGACCACAAAATGCATAAAATGCGGTGGCTTTTAGTATTAACAGAGTG... | ACATCAGCAAGGCCGTGTGTGAGCCAGGCAGGGTGTCCCCGGTGTAGCACCTGGCTCGGGCAGAGGCCCCGAGGAGGGGCTGGAGGAGCTGGGCGAGGAGGCGGGCAGGACGGGCCTGACACTAGGGACCTCGGGCCCCGGGAATGCCTCTGGGGGGGCGTGTACACCCGTTGCTCCCAGGAGGCACACACTGCGGTTCGCTTCGCCAAGAATGTTTAATTGCATTTGATGACTACGGTTTCCATTCATTCATTTGTAGAGATATAACACTCAGACCACAAAATGCATAAAATGCGGTGGCTTTTAGTATTAACAGAGTG... |
Task1_train_26186 | This sequence variant lies in POLRMT (RNA polymerase mitochondrial) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Combined oxidative phosphorylation deficiency 55 | TACTCAGAGCAGAACCGCTTGACCAGGAATCTGGACAGGTCCTGCAGGATGGGCTCGCTGTGCAAGCGGACAAACTGCTCCCGGCACACCTGGGCAGGAGTCAGAGGATCCCCAGGGGTGATCAGGCAGGCTCTGGGCACCACCCCTACCCAACGCCCCAGTGTGGGGGCCCCACCCATGGGTGGACTGAGGCTCAGACTACGGGGGCACCTGGTTCATGACGGAGACATCAGCTGCGTGAGTCCAGTAACAGTCGTGCACAGAGACGAAGGTCAGGCCCTTCCTGTGGCAGAGCGGAGGACTCCTGAAGGGAGGGGAGC... | TACTCAGAGCAGAACCGCTTGACCAGGAATCTGGACAGGTCCTGCAGGATGGGCTCGCTGTGCAAGCGGACAAACTGCTCCCGGCACACCTGGGCAGGAGTCAGAGGATCCCCAGGGGTGATCAGGCAGGCTCTGGGCACCACCCCTACCCAACGCCCCAGTGTGGGGGCCCCACCCATGGGTGGACTGAGGCTCAGACTACGGGGGCACCTGGTTCATGACGGAGACATCAGCTGCGTGAGTCCAGTAACAGTCGTGCACAGAGACGAAGGTCAGGCCCTTCCTGTGGCAGAGCGGAGGACTCCTGAAGGGAGGGGAGC... |
Task1_train_26187 | A genetic alteration is present in POLRMT (RNA polymerase mitochondrial) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Combined oxidative phosphorylation deficiency 55 | CAGGGGTGTGACCCACTCCACCACAGAGCCCATGTGGGAGATGAGGCGGGCACTCTCGGTCAGCCAGTGCTGTGGGACACAGGCCGTCTCAGGGCAGGGGGCTCAGGCCGGGGATCCCGTCCACTTGCTTAGGGAGTCCTGGCCGAGCGGGGACAGGACAGGACGTACCTGGATGGCCCGGGTCCCCGAGAACATCTCCTGTAGACTCTTGAAGACCTGGCGTACGAGATAGTGAGAGGCCTCCCACACGAACTCCTGCAGAGGGCGGGCAGCAGGTGCAGGTCCTCAGGGGCTGGCCCGTTCACGCCCTACTCCCCCCT... | CAGGGGTGTGACCCACTCCACCACAGAGCCCATGTGGGAGATGAGGCGGGCACTCTCGGTCAGCCAGTGCTGTGGGACACAGGCCGTCTCAGGGCAGGGGGCTCAGGCCGGGGATCCCGTCCACTTGCTTAGGGAGTCCTGGCCGAGCGGGGACAGGACAGGACGTACCTGGATGGCCCGGGTCCCCGAGAACATCTCCTGTAGACTCTTGAAGACCTGGCGTACGAGATAGTGAGAGGCCTCCCACACGAACTCCTGCAGAGGGCGGGCAGCAGGTGCAGGTCCTCAGGGGCTGGCCCGTTCACGCCCTACTCCCCCCT... |
Task1_train_26188 | A variant was discovered on Chromosome 19, affecting POLRMT (RNA polymerase mitochondrial). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Combined oxidative phosphorylation deficiency 55 | GGTCCCCGAGAACATCTCCTGTAGACTCTTGAAGACCTGGCGTACGAGATAGTGAGAGGCCTCCCACACGAACTCCTGCAGAGGGCGGGCAGCAGGTGCAGGTCCTCAGGGGCTGGCCCGTTCACGCCCTACTCCCCCCTATTTCAGAGCCACTGAGGCCCAAGGCCTAGGGCCTAGCAGGGGGGCAGGGGAATGGGGCCTGGCGCCCACGCAGTCAGCAAGAAACGCCCAAGCCCTAACAGGCAGCCAGTGGTCTGGGGGAGCAGCCAGGGCTCCTGCTGGGAGGCTGGGTCGGGGGCACACCCGTCTGAGTTTTAAAT... | GGTCCCCGAGAACATCTCCTGTAGACTCTTGAAGACCTGGCGTACGAGATAGTGAGAGGCCTCCCACACGAACTCCTGCAGAGGGCGGGCAGCAGGTGCAGGTCCTCAGGGGCTGGCCCGTTCACGCCCTACTCCCCCCTATTTCAGAGCCACTGAGGCCCAAGGCCTAGGGCCTAGCAGGGGGGCAGGGGAATGGGGCCTGGCGCCCACGCAGTCAGCAAGAAACGCCCAAGCCCTAACAGGCAGCCAGTGGTCTGGGGGAGCAGCCAGGGCTCCTGCTGGGAGGCTGGGTCGGGGGCACACCCGTCTGAGTTTTAAAT... |
Task1_train_26189 | The gene POLRMT (RNA polymerase mitochondrial) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Combined oxidative phosphorylation deficiency 55 | CATGCCCCGCTGGGCGTCCTGCCTACGGAACACCTCCACCTGCACGGCGGGTGGGCCGGGGGCGCGGGTCAGCCCCGCTAGCAGCCCAGGGGCCACCAAGCACCCATGAAGCCCCCGCCCCAGCCCCACCACATCCTCAGGACAGGCCAAGGTGAGGGCACCTGGGGCCGAGACTCAGGGCTCACATTGCCCCCACGCCGAGATGCCCCCGGGCAGCAGGGCACACCCTACCTGCGCGGCCACGCCGCTGTACACGTCCTGCGGCACATCCGAGGGCTCCAGGTTGACGGAGGCGGCGCCCACGCTGTCGCGGCCCAGAG... | CATGCCCCGCTGGGCGTCCTGCCTACGGAACACCTCCACCTGCACGGCGGGTGGGCCGGGGGCGCGGGTCAGCCCCGCTAGCAGCCCAGGGGCCACCAAGCACCCATGAAGCCCCCGCCCCAGCCCCACCACATCCTCAGGACAGGCCAAGGTGAGGGCACCTGGGGCCGAGACTCAGGGCTCACATTGCCCCCACGCCGAGATGCCCCCGGGCAGCAGGGCACACCCTACCTGCGCGGCCACGCCGCTGTACACGTCCTGCGGCACATCCGAGGGCTCCAGGTTGACGGAGGCGGCGCCCACGCTGTCGCGGCCCAGAG... |
Task1_train_26190 | An alteration has been detected in POLRMT (RNA polymerase mitochondrial) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Combined oxidative phosphorylation deficiency 55 | GGCAGAGACGTGTGGGACCCCAAACCACCCCCCAGGTCGAGCCGTTCCTAGGGCCGTGCACCCCCCAGCCAAGTGCACCGGAGCCCCCGCACGCTCCCGGGAGAGACCAGGAGCCATGGCTCCCGCACACTCTAGGACCACCTCCAGAGAATACCACGAGCGAAGGTGAAATCTCACACCCTCAAGTCGAGCCCCAGGCCCAGTGCACACTGCACGGCCTCGGGGGCCAGACCCAGCTGGCTCACCTGATGGACGGGGAGGTGGGAGACATAGGCGGCAGGGTCGGAGGCGCGCACAGCGTTCGCCACCTCCATACAGCA... | GGCAGAGACGTGTGGGACCCCAAACCACCCCCCAGGTCGAGCCGTTCCTAGGGCCGTGCACCCCCCAGCCAAGTGCACCGGAGCCCCCGCACGCTCCCGGGAGAGACCAGGAGCCATGGCTCCCGCACACTCTAGGACCACCTCCAGAGAATACCACGAGCGAAGGTGAAATCTCACACCCTCAAGTCGAGCCCCAGGCCCAGTGCACACTGCACGGCCTCGGGGGCCAGACCCAGCTGGCTCACCTGATGGACGGGGAGGTGGGAGACATAGGCGGCAGGGTCGGAGGCGCGCACAGCGTTCGCCACCTCCATACAGCA... |
Task1_train_26191 | This mutation is located in gene POLRMT (RNA polymerase mitochondrial) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Combined oxidative phosphorylation deficiency 55 | ACACACAGCTGTTGGCAGATGCGGAAAATTCCCAACATCATAGAAAGTTCTACTGGATGGTGCTGGTTAGAATACGTGGCCGGGCGCGGTCGCTCACGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGCGGGCGGATTACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGCAAAAGCCCGTCTCTACTAAAAATACAAAAATTGGCCGGGCGTGGTGGTGAGTCCCTGTAATCCCAGCCACTCAGGAGGCTGCGGCAGGGAGAATTATTGAACCCAGGAGGCGGAGGCTGTAGTGAGCCGAGATCATGGCA... | ACACACAGCTGTTGGCAGATGCGGAAAATTCCCAACATCATAGAAAGTTCTACTGGATGGTGCTGGTTAGAATACGTGGCCGGGCGCGGTCGCTCACGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGCGGGCGGATTACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGCAAAAGCCCGTCTCTACTAAAAATACAAAAATTGGCCGGGCGTGGTGGTGAGTCCCTGTAATCCCAGCCACTCAGGAGGCTGCGGCAGGGAGAATTATTGAACCCAGGAGGCGGAGGCTGTAGTGAGCCGAGATCATGGCA... |
Task1_train_26192 | This alteration in ELANE (elastase, neutrophil expressed) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cyclical neutropenia | AGCCCCTTCCAAAGATACGGCGTCCCCCACCCCTGAAATCCCCCCACCCCCGACTTGAAACAGGGCTGTGTAGACAGTAGGCGCTTACTAAGTGCACTGTGGTGATGTTAAGGCAGCAAGGTGGGAACCCTGCCAAAAGGGGAGGGGAGAAGGCAGGGTAGTGTGTGTCTGATTAAGCTGAGGACAGGGCAGACATGGACTGAGCGCCTGCTGTGTGCCAGGCTCTGGGAGGGCAGGGCCATTGTCTCCCTAACCCGAGAGCCATGGGGGTCCACTTGCCTGTGGTCACGTCAGGACTCCAGCCTGGCCCAGGCTCTGCG... | AGCCCCTTCCAAAGATACGGCGTCCCCCACCCCTGAAATCCCCCCACCCCCGACTTGAAACAGGGCTGTGTAGACAGTAGGCGCTTACTAAGTGCACTGTGGTGATGTTAAGGCAGCAAGGTGGGAACCCTGCCAAAAGGGGAGGGGAGAAGGCAGGGTAGTGTGTGTCTGATTAAGCTGAGGACAGGGCAGACATGGACTGAGCGCCTGCTGTGTGCCAGGCTCTGGGAGGGCAGGGCCATTGTCTCCCTAACCCGAGAGCCATGGGGGTCCACTTGCCTGTGGTCACGTCAGGACTCCAGCCTGGCCCAGGCTCTGCG... |
Task1_train_26193 | A variant was discovered on Chromosome 19, affecting ELANE (elastase, neutrophil expressed). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | AGCCCCTTCCAAAGATACGGCGTCCCCCACCCCTGAAATCCCCCCACCCCCGACTTGAAACAGGGCTGTGTAGACAGTAGGCGCTTACTAAGTGCACTGTGGTGATGTTAAGGCAGCAAGGTGGGAACCCTGCCAAAAGGGGAGGGGAGAAGGCAGGGTAGTGTGTGTCTGATTAAGCTGAGGACAGGGCAGACATGGACTGAGCGCCTGCTGTGTGCCAGGCTCTGGGAGGGCAGGGCCATTGTCTCCCTAACCCGAGAGCCATGGGGGTCCACTTGCCTGTGGTCACGTCAGGACTCCAGCCTGGCCCAGGCTCTGCG... | AGCCCCTTCCAAAGATACGGCGTCCCCCACCCCTGAAATCCCCCCACCCCCGACTTGAAACAGGGCTGTGTAGACAGTAGGCGCTTACTAAGTGCACTGTGGTGATGTTAAGGCAGCAAGGTGGGAACCCTGCCAAAAGGGGAGGGGAGAAGGCAGGGTAGTGTGTGTCTGATTAAGCTGAGGACAGGGCAGACATGGACTGAGCGCCTGCTGTGTGCCAGGCTCTGGGAGGGCAGGGCCATTGTCTCCCTAACCCGAGAGCCATGGGGGTCCACTTGCCTGTGGTCACGTCAGGACTCCAGCCTGGCCCAGGCTCTGCG... |
Task1_train_26194 | A variant on Chromosome 19 in gene ELANE (elastase, neutrophil expressed) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | GCCCCTTCCAAAGATACGGCGTCCCCCACCCCTGAAATCCCCCCACCCCCGACTTGAAACAGGGCTGTGTAGACAGTAGGCGCTTACTAAGTGCACTGTGGTGATGTTAAGGCAGCAAGGTGGGAACCCTGCCAAAAGGGGAGGGGAGAAGGCAGGGTAGTGTGTGTCTGATTAAGCTGAGGACAGGGCAGACATGGACTGAGCGCCTGCTGTGTGCCAGGCTCTGGGAGGGCAGGGCCATTGTCTCCCTAACCCGAGAGCCATGGGGGTCCACTTGCCTGTGGTCACGTCAGGACTCCAGCCTGGCCCAGGCTCTGCGT... | GCCCCTTCCAAAGATACGGCGTCCCCCACCCCTGAAATCCCCCCACCCCCGACTTGAAACAGGGCTGTGTAGACAGTAGGCGCTTACTAAGTGCACTGTGGTGATGTTAAGGCAGCAAGGTGGGAACCCTGCCAAAAGGGGAGGGGAGAAGGCAGGGTAGTGTGTGTCTGATTAAGCTGAGGACAGGGCAGACATGGACTGAGCGCCTGCTGTGTGCCAGGCTCTGGGAGGGCAGGGCCATTGTCTCCCTAACCCGAGAGCCATGGGGGTCCACTTGCCTGTGGTCACGTCAGGACTCCAGCCTGGCCCAGGCTCTGCGT... |
Task1_train_26195 | The following genetic variant occurs in ELANE (elastase, neutrophil expressed) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cyclical neutropenia | CAGCAGCCCTGCCAGATGCCCGCCCAGCCCCTGCCTCAGGCGGGGAGGGCTTCAGGGAAGCTCACCAAGGCAGAAGGGCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTC... | CAGCAGCCCTGCCAGATGCCCGCCCAGCCCCTGCCTCAGGCGGGGAGGGCTTCAGGGAAGCTCACCAAGGCAGAAGGGCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTC... |
Task1_train_26196 | Given a variant located on Chromosome 19 and affecting ELANE (elastase, neutrophil expressed), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | CAGCAGCCCTGCCAGATGCCCGCCCAGCCCCTGCCTCAGGCGGGGAGGGCTTCAGGGAAGCTCACCAAGGCAGAAGGGCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTC... | CAGCAGCCCTGCCAGATGCCCGCCCAGCCCCTGCCTCAGGCGGGGAGGGCTTCAGGGAAGCTCACCAAGGCAGAAGGGCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTC... |
Task1_train_26197 | The gene ELANE (elastase, neutrophil expressed) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | CCCCTGCCTCAGGCGGGGAGGGCTTCAGGGAAGCTCACCAAGGCAGAAGGGCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTCCCAAACAGGAACCCTGGGAAGGACCAG... | CCCCTGCCTCAGGCGGGGAGGGCTTCAGGGAAGCTCACCAAGGCAGAAGGGCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTCCCAAACAGGAACCCTGGGAAGGACCAG... |
Task1_train_26198 | The gene ELANE (elastase, neutrophil expressed), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cyclical neutropenia | AGGGCTTCAGGGAAGCTCACCAAGGCAGAAGGGCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTCCCAAACAGGAACCCTGGGAAGGACCAGAGAAGTGCCTATTGCGCA... | AGGGCTTCAGGGAAGCTCACCAAGGCAGAAGGGCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTCCCAAACAGGAACCCTGGGAAGGACCAGAGAAGTGCCTATTGCGCA... |
Task1_train_26199 | A variant was discovered in gene ELANE (elastase, neutrophil expressed), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Neutropenia, severe congenital, 1, autosomal dominant | AGGGCTTCAGGGAAGCTCACCAAGGCAGAAGGGCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTCCCAAACAGGAACCCTGGGAAGGACCAGAGAAGTGCCTATTGCGCA... | AGGGCTTCAGGGAAGCTCACCAAGGCAGAAGGGCGGGAGAGATTGTCAGAGCCCCAGCTGGTGTCCAGGGACTGACCGTGAGCCTGGGTGAAAGTGAGTTCCCCGTTGGAGGCAACAGACGAGGAGAGGATGGAAGGCCTGGCCCCCAAGAATGAGCCCTGAGGTTCAGGGAGCGGCTGGAGTGAGCCGGCCCCAGATCTCCGTCCAGCTGCGGGTCCCAGAGGCCTGGGTTACACTCGCAGCTCCTGGGGGAGGCCCTTGACGTGCCTCAGTTCCCAAACAGGAACCCTGGGAAGGACCAGAGAAGTGCCTATTGCGCA... |
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