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_10000 | The gene DSP (desmoplakin) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Arrhythmogenic right ventricular dysplasia 8 | CTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGA... | CTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGA... |
Task1_train_10001 | A variant on Chromosome 6 in gene DSP (desmoplakin) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Arrhythmogenic right ventricular dysplasia 8 | TAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTC... | TAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTC... |
Task1_train_10002 | Assess the clinical impact of this variant on gene DSP (desmoplakin), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | TAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTC... | TAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTC... |
Task1_train_10003 | This alteration in DSP (desmoplakin) on Chromosome 6 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | TAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTC... | TAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTC... |
Task1_train_10004 | A change on Chromosome 6 affects gene DSP (desmoplakin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | GGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAA... | GGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAA... |
Task1_train_10005 | Gene DSP (desmoplakin) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Arrhythmogenic right ventricular dysplasia 8 | GGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAA... | GGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAA... |
Task1_train_10006 | Consider this mutation in DSP (desmoplakin) on Chromosome 6. Is this a benign change or a disease-causing variant? | Pathogenic; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | GGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAA... | GGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAA... |
Task1_train_10007 | The gene DSP (desmoplakin) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | GGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAA... | GGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAA... |
Task1_train_10008 | This alteration in DSP (desmoplakin) on Chromosome 6 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Arrhythmogenic right ventricular dysplasia 8 | GGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAA... | GGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAA... |
Task1_train_10009 | Given this variant in gene DSP (desmoplakin) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Keratosis palmoplantaris striata 2 | GGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAA... | GGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAA... |
Task1_train_10010 | This variant affects gene DSP (desmoplakin) located on Chromosome 6. Evaluate its biological effect and specify any disease association. | Pathogenic; Lethal acantholytic epidermolysis bullosa | GGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAA... | GGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAA... |
Task1_train_10011 | This variant impacts the gene DSP (desmoplakin) on Chromosome 6. Is the change likely to result in a pathogenic outcome? | Pathogenic; Arrhythmogenic right ventricular cardiomyopathy | GGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAA... | GGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAA... |
Task1_train_10012 | With a mutation on Chromosome 6 in gene TFAP2A (transcription factor AP-2 alpha), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Branchiooculofacial syndrome | GGGCCGTGACCGCGGCACACACCGCGGGGCTGCCGAAGCCGTGGGAGATGAGGTTGAAGTGGGTCAAGCAGCTCTGGATGCCGGGCTCCAGGATGGGGTTGGGCCGTGAGTTCCCCAGGGGAGATCGGTCCTGAGCCAGCAGGTCGGTGAACTCTTTGCATATCTGTCTGCAGCACAAGTGGAGCAGAGAGAGAGACATAAGGCTCCACTATGGGCAGCACTAGCAGCAAAGAGAAAACCTCCCTCCCTGCAGCTACCTCTGCCGGGATCCAGCCGGTACCTGACATGACCCAAGACCCCAGAGACAGACAGTGTGGCCA... | GGGCCGTGACCGCGGCACACACCGCGGGGCTGCCGAAGCCGTGGGAGATGAGGTTGAAGTGGGTCAAGCAGCTCTGGATGCCGGGCTCCAGGATGGGGTTGGGCCGTGAGTTCCCCAGGGGAGATCGGTCCTGAGCCAGCAGGTCGGTGAACTCTTTGCATATCTGTCTGCAGCACAAGTGGAGCAGAGAGAGAGACATAAGGCTCCACTATGGGCAGCACTAGCAGCAAAGAGAAAACCTCCCTCCCTGCAGCTACCTCTGCCGGGATCCAGCCGGTACCTGACATGACCCAAGACCCCAGAGACAGACAGTGTGGCCA... |
Task1_train_10013 | A genetic alteration is present in TFAP2A (transcription factor AP-2 alpha) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Branchiooculofacial syndrome | CGGTTTCGCACACGTACCCAAAGTCCCTGGCTAGGTGGACAGCTTCTCCTGGCAAGAGGGGAGAGGAGGGAGCCAGTGCGAGAGAATGAAGAGTGGGGATCCTAACTTCCTCCCCACTCCCAACTCCCTAATTCCCTTCACCCCAGATGTTGCAGGAAACACAAACTACTTGTTTTCTCATTTCAGGCATTTTATTTCCTTCTCTGTAGGATCTGGTGGATGCATTTATCAGGAAAAATGACCACTTCTCCTAGAGGGCCAAGAAGACTTGAAAATGAAAATCTCATCCACCAACCTCCAGTCCCATCCCCCACCCTAAA... | CGGTTTCGCACACGTACCCAAAGTCCCTGGCTAGGTGGACAGCTTCTCCTGGCAAGAGGGGAGAGGAGGGAGCCAGTGCGAGAGAATGAAGAGTGGGGATCCTAACTTCCTCCCCACTCCCAACTCCCTAATTCCCTTCACCCCAGATGTTGCAGGAAACACAAACTACTTGTTTTCTCATTTCAGGCATTTTATTTCCTTCTCTGTAGGATCTGGTGGATGCATTTATCAGGAAAAATGACCACTTCTCCTAGAGGGCCAAGAAGACTTGAAAATGAAAATCTCATCCACCAACCTCCAGTCCCATCCCCCACCCTAAA... |
Task1_train_10014 | This alteration occurs within gene LOC121740638, TFAP2A, TFAP2A-AS2 (BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476| transcription factor AP-2 alpha| TFAP2A antisense RNA 2) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; Inborn genetic diseases | TTCCTTCTAGTTAGCAAGTGGATTCGCTTACCCTCTACTAGTGATGTGAGCAGGGTAACGTTGGCAGCTTTACGTCTCCCTGCAGGCAGATTTAATCCTATTTTGTCCAGTTTTTCTCTTAAAGATCTTCCTCCATTTTTAGACTTCGCCCTGTTTCACAAATATATGCGAGAAAGGGATTTAGAAAACATTGGGTTGCTCTGCACCACATTAAAATCATTTTGAAAGCTTCCTAAAATGTGCTTTCAAAAACTGAGAAGCTTGGCCCCAAGACATTTAAAGGAGGGAAACCTAGGAATAGTACAGAAGTTCATAGGAGA... | TTCCTTCTAGTTAGCAAGTGGATTCGCTTACCCTCTACTAGTGATGTGAGCAGGGTAACGTTGGCAGCTTTACGTCTCCCTGCAGGCAGATTTAATCCTATTTTGTCCAGTTTTTCTCTTAAAGATCTTCCTCCATTTTTAGACTTCGCCCTGTTTCACAAATATATGCGAGAAAGGGATTTAGAAAACATTGGGTTGCTCTGCACCACATTAAAATCATTTTGAAAGCTTCCTAAAATGTGCTTTCAAAAACTGAGAAGCTTGGCCCCAAGACATTTAAAGGAGGGAAACCTAGGAATAGTACAGAAGTTCATAGGAGA... |
Task1_train_10015 | This sequence variant lies in LOC121740638, TFAP2A, TFAP2A-AS2 (BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476| transcription factor AP-2 alpha| TFAP2A antisense RNA 2) on Chromosome 6. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Branchiooculofacial syndrome | CTTCTAGTTAGCAAGTGGATTCGCTTACCCTCTACTAGTGATGTGAGCAGGGTAACGTTGGCAGCTTTACGTCTCCCTGCAGGCAGATTTAATCCTATTTTGTCCAGTTTTTCTCTTAAAGATCTTCCTCCATTTTTAGACTTCGCCCTGTTTCACAAATATATGCGAGAAAGGGATTTAGAAAACATTGGGTTGCTCTGCACCACATTAAAATCATTTTGAAAGCTTCCTAAAATGTGCTTTCAAAAACTGAGAAGCTTGGCCCCAAGACATTTAAAGGAGGGAAACCTAGGAATAGTACAGAAGTTCATAGGAGATAA... | CTTCTAGTTAGCAAGTGGATTCGCTTACCCTCTACTAGTGATGTGAGCAGGGTAACGTTGGCAGCTTTACGTCTCCCTGCAGGCAGATTTAATCCTATTTTGTCCAGTTTTTCTCTTAAAGATCTTCCTCCATTTTTAGACTTCGCCCTGTTTCACAAATATATGCGAGAAAGGGATTTAGAAAACATTGGGTTGCTCTGCACCACATTAAAATCATTTTGAAAGCTTCCTAAAATGTGCTTTCAAAAACTGAGAAGCTTGGCCCCAAGACATTTAAAGGAGGGAAACCTAGGAATAGTACAGAAGTTCATAGGAGATAA... |
Task1_train_10016 | A variant on Chromosome 6 in gene LOC121740638, TFAP2A, TFAP2A-AS2 (BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476| transcription factor AP-2 alpha| TFAP2A antisense RNA 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Inborn genetic diseases | CTTCTAGTTAGCAAGTGGATTCGCTTACCCTCTACTAGTGATGTGAGCAGGGTAACGTTGGCAGCTTTACGTCTCCCTGCAGGCAGATTTAATCCTATTTTGTCCAGTTTTTCTCTTAAAGATCTTCCTCCATTTTTAGACTTCGCCCTGTTTCACAAATATATGCGAGAAAGGGATTTAGAAAACATTGGGTTGCTCTGCACCACATTAAAATCATTTTGAAAGCTTCCTAAAATGTGCTTTCAAAAACTGAGAAGCTTGGCCCCAAGACATTTAAAGGAGGGAAACCTAGGAATAGTACAGAAGTTCATAGGAGATAA... | CTTCTAGTTAGCAAGTGGATTCGCTTACCCTCTACTAGTGATGTGAGCAGGGTAACGTTGGCAGCTTTACGTCTCCCTGCAGGCAGATTTAATCCTATTTTGTCCAGTTTTTCTCTTAAAGATCTTCCTCCATTTTTAGACTTCGCCCTGTTTCACAAATATATGCGAGAAAGGGATTTAGAAAACATTGGGTTGCTCTGCACCACATTAAAATCATTTTGAAAGCTTCCTAAAATGTGCTTTCAAAAACTGAGAAGCTTGGCCCCAAGACATTTAAAGGAGGGAAACCTAGGAATAGTACAGAAGTTCATAGGAGATAA... |
Task1_train_10017 | Chromosome 6 houses a mutation in gene LOC121740638, TFAP2A, TFAP2A-AS2 (BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476| transcription factor AP-2 alpha| TFAP2A antisense RNA 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Branchiooculofacial syndrome | CTTCTAGTTAGCAAGTGGATTCGCTTACCCTCTACTAGTGATGTGAGCAGGGTAACGTTGGCAGCTTTACGTCTCCCTGCAGGCAGATTTAATCCTATTTTGTCCAGTTTTTCTCTTAAAGATCTTCCTCCATTTTTAGACTTCGCCCTGTTTCACAAATATATGCGAGAAAGGGATTTAGAAAACATTGGGTTGCTCTGCACCACATTAAAATCATTTTGAAAGCTTCCTAAAATGTGCTTTCAAAAACTGAGAAGCTTGGCCCCAAGACATTTAAAGGAGGGAAACCTAGGAATAGTACAGAAGTTCATAGGAGATAA... | CTTCTAGTTAGCAAGTGGATTCGCTTACCCTCTACTAGTGATGTGAGCAGGGTAACGTTGGCAGCTTTACGTCTCCCTGCAGGCAGATTTAATCCTATTTTGTCCAGTTTTTCTCTTAAAGATCTTCCTCCATTTTTAGACTTCGCCCTGTTTCACAAATATATGCGAGAAAGGGATTTAGAAAACATTGGGTTGCTCTGCACCACATTAAAATCATTTTGAAAGCTTCCTAAAATGTGCTTTCAAAAACTGAGAAGCTTGGCCCCAAGACATTTAAAGGAGGGAAACCTAGGAATAGTACAGAAGTTCATAGGAGATAA... |
Task1_train_10018 | A variant has been detected on Chromosome 6 in LOC121740638, TFAP2A, TFAP2A-AS2 (BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476| transcription factor AP-2 alpha| TFAP2A antisense RNA 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Branchiooculofacial syndrome | GTGGATTCGCTTACCCTCTACTAGTGATGTGAGCAGGGTAACGTTGGCAGCTTTACGTCTCCCTGCAGGCAGATTTAATCCTATTTTGTCCAGTTTTTCTCTTAAAGATCTTCCTCCATTTTTAGACTTCGCCCTGTTTCACAAATATATGCGAGAAAGGGATTTAGAAAACATTGGGTTGCTCTGCACCACATTAAAATCATTTTGAAAGCTTCCTAAAATGTGCTTTCAAAAACTGAGAAGCTTGGCCCCAAGACATTTAAAGGAGGGAAACCTAGGAATAGTACAGAAGTTCATAGGAGATAAACGCCTGTTAAACT... | GTGGATTCGCTTACCCTCTACTAGTGATGTGAGCAGGGTAACGTTGGCAGCTTTACGTCTCCCTGCAGGCAGATTTAATCCTATTTTGTCCAGTTTTTCTCTTAAAGATCTTCCTCCATTTTTAGACTTCGCCCTGTTTCACAAATATATGCGAGAAAGGGATTTAGAAAACATTGGGTTGCTCTGCACCACATTAAAATCATTTTGAAAGCTTCCTAAAATGTGCTTTCAAAAACTGAGAAGCTTGGCCCCAAGACATTTAAAGGAGGGAAACCTAGGAATAGTACAGAAGTTCATAGGAGATAAACGCCTGTTAAACT... |
Task1_train_10019 | A variant affecting Chromosome 6, within the gene TFAP2A-AS2, TFAP2A, LOC121740638 (TFAP2A antisense RNA 2| transcription factor AP-2 alpha| BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Branchiooculofacial syndrome | GGTAACGTTGGCAGCTTTACGTCTCCCTGCAGGCAGATTTAATCCTATTTTGTCCAGTTTTTCTCTTAAAGATCTTCCTCCATTTTTAGACTTCGCCCTGTTTCACAAATATATGCGAGAAAGGGATTTAGAAAACATTGGGTTGCTCTGCACCACATTAAAATCATTTTGAAAGCTTCCTAAAATGTGCTTTCAAAAACTGAGAAGCTTGGCCCCAAGACATTTAAAGGAGGGAAACCTAGGAATAGTACAGAAGTTCATAGGAGATAAACGCCTGTTAAACTGTAAAGCACCCCCTACGTTCAGTTATTATTGCAACT... | GGTAACGTTGGCAGCTTTACGTCTCCCTGCAGGCAGATTTAATCCTATTTTGTCCAGTTTTTCTCTTAAAGATCTTCCTCCATTTTTAGACTTCGCCCTGTTTCACAAATATATGCGAGAAAGGGATTTAGAAAACATTGGGTTGCTCTGCACCACATTAAAATCATTTTGAAAGCTTCCTAAAATGTGCTTTCAAAAACTGAGAAGCTTGGCCCCAAGACATTTAAAGGAGGGAAACCTAGGAATAGTACAGAAGTTCATAGGAGATAAACGCCTGTTAAACTGTAAAGCACCCCCTACGTTCAGTTATTATTGCAACT... |
Task1_train_10020 | A variant found in Chromosome 6 affects TFAP2A-AS2, LOC121740638, TFAP2A (TFAP2A antisense RNA 2| BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476| transcription factor AP-2 alpha). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | AACGTTGGCAGCTTTACGTCTCCCTGCAGGCAGATTTAATCCTATTTTGTCCAGTTTTTCTCTTAAAGATCTTCCTCCATTTTTAGACTTCGCCCTGTTTCACAAATATATGCGAGAAAGGGATTTAGAAAACATTGGGTTGCTCTGCACCACATTAAAATCATTTTGAAAGCTTCCTAAAATGTGCTTTCAAAAACTGAGAAGCTTGGCCCCAAGACATTTAAAGGAGGGAAACCTAGGAATAGTACAGAAGTTCATAGGAGATAAACGCCTGTTAAACTGTAAAGCACCCCCTACGTTCAGTTATTATTGCAACTCTT... | AACGTTGGCAGCTTTACGTCTCCCTGCAGGCAGATTTAATCCTATTTTGTCCAGTTTTTCTCTTAAAGATCTTCCTCCATTTTTAGACTTCGCCCTGTTTCACAAATATATGCGAGAAAGGGATTTAGAAAACATTGGGTTGCTCTGCACCACATTAAAATCATTTTGAAAGCTTCCTAAAATGTGCTTTCAAAAACTGAGAAGCTTGGCCCCAAGACATTTAAAGGAGGGAAACCTAGGAATAGTACAGAAGTTCATAGGAGATAAACGCCTGTTAAACTGTAAAGCACCCCCTACGTTCAGTTATTATTGCAACTCTT... |
Task1_train_10021 | Gene LOC121740638, TFAP2A, TFAP2A-AS2 (BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476| transcription factor AP-2 alpha| TFAP2A antisense RNA 2) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Branchiooculofacial syndrome | TCTCTTAAAGATCTTCCTCCATTTTTAGACTTCGCCCTGTTTCACAAATATATGCGAGAAAGGGATTTAGAAAACATTGGGTTGCTCTGCACCACATTAAAATCATTTTGAAAGCTTCCTAAAATGTGCTTTCAAAAACTGAGAAGCTTGGCCCCAAGACATTTAAAGGAGGGAAACCTAGGAATAGTACAGAAGTTCATAGGAGATAAACGCCTGTTAAACTGTAAAGCACCCCCTACGTTCAGTTATTATTGCAACTCTTGTGGCAGGTTGGAAGGTTTTGATTTCCCAACTCTCTAAAGAAGAACCACAAACAAACA... | TCTCTTAAAGATCTTCCTCCATTTTTAGACTTCGCCCTGTTTCACAAATATATGCGAGAAAGGGATTTAGAAAACATTGGGTTGCTCTGCACCACATTAAAATCATTTTGAAAGCTTCCTAAAATGTGCTTTCAAAAACTGAGAAGCTTGGCCCCAAGACATTTAAAGGAGGGAAACCTAGGAATAGTACAGAAGTTCATAGGAGATAAACGCCTGTTAAACTGTAAAGCACCCCCTACGTTCAGTTATTATTGCAACTCTTGTGGCAGGTTGGAAGGTTTTGATTTCCCAACTCTCTAAAGAAGAACCACAAACAAACA... |
Task1_train_10022 | A variant was discovered on Chromosome 6, affecting TFAP2A-AS2, TFAP2A, LOC121740638 (TFAP2A antisense RNA 2| transcription factor AP-2 alpha| BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Branchiooculofacial syndrome | AGATCTTCCTCCATTTTTAGACTTCGCCCTGTTTCACAAATATATGCGAGAAAGGGATTTAGAAAACATTGGGTTGCTCTGCACCACATTAAAATCATTTTGAAAGCTTCCTAAAATGTGCTTTCAAAAACTGAGAAGCTTGGCCCCAAGACATTTAAAGGAGGGAAACCTAGGAATAGTACAGAAGTTCATAGGAGATAAACGCCTGTTAAACTGTAAAGCACCCCCTACGTTCAGTTATTATTGCAACTCTTGTGGCAGGTTGGAAGGTTTTGATTTCCCAACTCTCTAAAGAAGAACCACAAACAAACACAGCCCCA... | AGATCTTCCTCCATTTTTAGACTTCGCCCTGTTTCACAAATATATGCGAGAAAGGGATTTAGAAAACATTGGGTTGCTCTGCACCACATTAAAATCATTTTGAAAGCTTCCTAAAATGTGCTTTCAAAAACTGAGAAGCTTGGCCCCAAGACATTTAAAGGAGGGAAACCTAGGAATAGTACAGAAGTTCATAGGAGATAAACGCCTGTTAAACTGTAAAGCACCCCCTACGTTCAGTTATTATTGCAACTCTTGTGGCAGGTTGGAAGGTTTTGATTTCCCAACTCTCTAAAGAAGAACCACAAACAAACACAGCCCCA... |
Task1_train_10023 | The gene GCNT2 (glucosaminyl (N-acetyl) transferase 2 (I blood group)) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; ADULT i BLOOD GROUP PHENOTYPE | TGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCGTTTCAATAAATAAATAAAATAAAATAAAAAGTTGCTTGTCTACTACATACAGACAATGCTAGGAGCCAGAAACATGAGGAATACATGAGCTCGGCGCCAATGGAACATGCTTTCACACCGGGTGCAGCTAACCACCACATCATACAAAACTCGTCGCTGACGTTTTAGATGTATAATCTGATTGGCATGGACTCACAGAGGAGGGAGTAAGGGAAGAGTAAGAAGATTTCAAAGGAGAGGTAATTGTGTCATTTATTAGAAGTATG... | TGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCGTTTCAATAAATAAATAAAATAAAATAAAAAGTTGCTTGTCTACTACATACAGACAATGCTAGGAGCCAGAAACATGAGGAATACATGAGCTCGGCGCCAATGGAACATGCTTTCACACCGGGTGCAGCTAACCACCACATCATACAAAACTCGTCGCTGACGTTTTAGATGTATAATCTGATTGGCATGGACTCACAGAGGAGGGAGTAAGGGAAGAGTAAGAAGATTTCAAAGGAGAGGTAATTGTGTCATTTATTAGAAGTATG... |
Task1_train_10024 | This variant lies on Chromosome 6 and affects the gene GCNT2 (glucosaminyl (N-acetyl) transferase 2 (I blood group)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; ADULT i BLOOD GROUP PHENOTYPE | CAGCTAACCACCACATCATACAAAACTCGTCGCTGACGTTTTAGATGTATAATCTGATTGGCATGGACTCACAGAGGAGGGAGTAAGGGAAGAGTAAGAAGATTTCAAAGGAGAGGTAATTGTGTCATTTATTAGAAGTATGAGTGTGGGGTAAGAGATACGTGTGTATGCATGCGTGTGTGTGAACGGACTTCTTGTTTAGTACCATTTTGCTGCTGCTTTACCACCCCAATCTGTTCCTGGACACGGCGATGGACTCTGTATATGTTATCTCATTTTATTCTCACAATTGACCTCTGGTGGTAAAATTATTCTCATTT... | CAGCTAACCACCACATCATACAAAACTCGTCGCTGACGTTTTAGATGTATAATCTGATTGGCATGGACTCACAGAGGAGGGAGTAAGGGAAGAGTAAGAAGATTTCAAAGGAGAGGTAATTGTGTCATTTATTAGAAGTATGAGTGTGGGGTAAGAGATACGTGTGTATGCATGCGTGTGTGTGAACGGACTTCTTGTTTAGTACCATTTTGCTGCTGCTTTACCACCCCAATCTGTTCCTGGACACGGCGATGGACTCTGTATATGTTATCTCATTTTATTCTCACAATTGACCTCTGGTGGTAAAATTATTCTCATTT... |
Task1_train_10025 | The gene GCNT2 (glucosaminyl (N-acetyl) transferase 2 (I blood group)) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cataract 13 with adult I phenotype | GCAAAAGAGGAAACCCCTTATAAAACCATCAGATCTTGTGAGACTTACTCACTACCACAAGAACAATCATGGGGGAAACTGCCCCCCACGATTCAACTATCTCCCACTGCATCCCTCCCACAACACATGGGAATTATGGGAGCTGCAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCACAAGGTTATGCTAAAACAGCCTTTCTATTCTCAAAAGCGACCATTTCAACTTGAAAAAGAACATTCAAGATATGTGATCAAAATTCATCATCTAGTCCCTTGTCAGGTCATCCTGCCCCACCATCTTAGA... | GCAAAAGAGGAAACCCCTTATAAAACCATCAGATCTTGTGAGACTTACTCACTACCACAAGAACAATCATGGGGGAAACTGCCCCCCACGATTCAACTATCTCCCACTGCATCCCTCCCACAACACATGGGAATTATGGGAGCTGCAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCACAAGGTTATGCTAAAACAGCCTTTCTATTCTCAAAAGCGACCATTTCAACTTGAAAAAGAACATTCAAGATATGTGATCAAAATTCATCATCTAGTCCCTTGTCAGGTCATCCTGCCCCACCATCTTAGA... |
Task1_train_10026 | This variant lies on Chromosome 6 and affects the gene GCNT2 (glucosaminyl (N-acetyl) transferase 2 (I blood group)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Cataract 13 with adult I phenotype | AAAGAGGAAACCCCTTATAAAACCATCAGATCTTGTGAGACTTACTCACTACCACAAGAACAATCATGGGGGAAACTGCCCCCCACGATTCAACTATCTCCCACTGCATCCCTCCCACAACACATGGGAATTATGGGAGCTGCAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCACAAGGTTATGCTAAAACAGCCTTTCTATTCTCAAAAGCGACCATTTCAACTTGAAAAAGAACATTCAAGATATGTGATCAAAATTCATCATCTAGTCCCTTGTCAGGTCATCCTGCCCCACCATCTTAGAGCT... | AAAGAGGAAACCCCTTATAAAACCATCAGATCTTGTGAGACTTACTCACTACCACAAGAACAATCATGGGGGAAACTGCCCCCCACGATTCAACTATCTCCCACTGCATCCCTCCCACAACACATGGGAATTATGGGAGCTGCAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCACAAGGTTATGCTAAAACAGCCTTTCTATTCTCAAAAGCGACCATTTCAACTTGAAAAAGAACATTCAAGATATGTGATCAAAATTCATCATCTAGTCCCTTGTCAGGTCATCCTGCCCCACCATCTTAGAGCT... |
Task1_train_10027 | This variant affects the gene GCNT2 (glucosaminyl (N-acetyl) transferase 2 (I blood group)) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Developmental cataract | TACTCACTACCACAAGAACAATCATGGGGGAAACTGCCCCCCACGATTCAACTATCTCCCACTGCATCCCTCCCACAACACATGGGAATTATGGGAGCTGCAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCACAAGGTTATGCTAAAACAGCCTTTCTATTCTCAAAAGCGACCATTTCAACTTGAAAAAGAACATTCAAGATATGTGATCAAAATTCATCATCTAGTCCCTTGTCAGGTCATCCTGCCCCACCATCTTAGAGCTGTGTGGACACCTTCTTTCATTGTTCCCTCCTGTTTCAAGAGG... | TACTCACTACCACAAGAACAATCATGGGGGAAACTGCCCCCCACGATTCAACTATCTCCCACTGCATCCCTCCCACAACACATGGGAATTATGGGAGCTGCAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCACAAGGTTATGCTAAAACAGCCTTTCTATTCTCAAAAGCGACCATTTCAACTTGAAAAAGAACATTCAAGATATGTGATCAAAATTCATCATCTAGTCCCTTGTCAGGTCATCCTGCCCCACCATCTTAGAGCTGTGTGGACACCTTCTTTCATTGTTCCCTCCTGTTTCAAGAGG... |
Task1_train_10028 | Here is a genetic alteration in MAK (male germ cell associated kinase) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Retinitis pigmentosa 62 | TGATATTACAAAACCTAAACATTTTTAAAGGTCTAACAGGAAGACTCCTCTTACCTGGCTTGCTGTCGGTCGTTTCTTTGGATCCCAATTCAACATTTCGGTCATGAGCTGAATAGCTTCATTACTGGCATTGGGAATAAGAGTTTTTAAGTTTATAGGAACACACTGGGGAAAACGGAAGTTCATAGAGGATGCCAGCTGGTATCCTTCTGGCCAGTCACTCTGTTTCAGGAATATATAAGTGCAGGTGGGGAGGGCAAAACAAATTGTTTTTAGTAATCCATTTAAAAAACACAGCAGTAATATAAACATCATTTATG... | TGATATTACAAAACCTAAACATTTTTAAAGGTCTAACAGGAAGACTCCTCTTACCTGGCTTGCTGTCGGTCGTTTCTTTGGATCCCAATTCAACATTTCGGTCATGAGCTGAATAGCTTCATTACTGGCATTGGGAATAAGAGTTTTTAAGTTTATAGGAACACACTGGGGAAAACGGAAGTTCATAGAGGATGCCAGCTGGTATCCTTCTGGCCAGTCACTCTGTTTCAGGAATATATAAGTGCAGGTGGGGAGGGCAAAACAAATTGTTTTTAGTAATCCATTTAAAAAACACAGCAGTAATATAAACATCATTTATG... |
Task1_train_10029 | Here is a mutation in MAK (male germ cell associated kinase) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Retinal dystrophy | TCTTGTACAGCCTGCAGAACTGGAAGCCAAATAAACCTCCTTTCTTTACCAACTTCCCAGCCGCAGGTGTTCCTTTACAGCAACACAAAAAAACACACTAAGACACGGACTCCTTTCTTTCAGCCCCCACATCTGATTCATTAGAATCCCACATTTCTCACTACCTGCATGGCCAGCAGGTCCAAGTCACTATCATTTCTGGCCACTCTACAAACTCTGCCCTTGTTTCCTACGACTGCCCTCCTTATTCATTCTGCACTGTGCAGAATTCACGTGTGGCGTGCACCTGTCTCAAGGCTTTTACTCTGCCTAAAAAAAAT... | TCTTGTACAGCCTGCAGAACTGGAAGCCAAATAAACCTCCTTTCTTTACCAACTTCCCAGCCGCAGGTGTTCCTTTACAGCAACACAAAAAAACACACTAAGACACGGACTCCTTTCTTTCAGCCCCCACATCTGATTCATTAGAATCCCACATTTCTCACTACCTGCATGGCCAGCAGGTCCAAGTCACTATCATTTCTGGCCACTCTACAAACTCTGCCCTTGTTTCCTACGACTGCCCTCCTTATTCATTCTGCACTGTGCAGAATTCACGTGTGGCGTGCACCTGTCTCAAGGCTTTTACTCTGCCTAAAAAAAAT... |
Task1_train_10030 | The gene MAK (male germ cell associated kinase) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Retinitis pigmentosa 62 | AAAAGGTAATTAAGTTTAAGTGAGGTCTTTCAGGTAGGCCCAAATCTGATATGACTGGTGTCCTTATAAGAGGAGCCTGGGCAACATGGCAAGACCCCATCACTCCAAAAAAATTTTTTAAAAATTAGCCACATGTTGTGGTACACGCCTACAGTCCCAACTACTCTGGAGGCTGAGGCAGGAGGATGGTTCAAGCCCAGGAGGCTGAGGCTATAGTGAGCTATGTTTGTACCACCGTACCTCAGCCTGGGCGACAGAATGGAACCCTGTCTTGAAAAAAAAGAGGGGGGAAATGTGGACACAGACATGCACAACGAGAA... | AAAAGGTAATTAAGTTTAAGTGAGGTCTTTCAGGTAGGCCCAAATCTGATATGACTGGTGTCCTTATAAGAGGAGCCTGGGCAACATGGCAAGACCCCATCACTCCAAAAAAATTTTTTAAAAATTAGCCACATGTTGTGGTACACGCCTACAGTCCCAACTACTCTGGAGGCTGAGGCAGGAGGATGGTTCAAGCCCAGGAGGCTGAGGCTATAGTGAGCTATGTTTGTACCACCGTACCTCAGCCTGGGCGACAGAATGGAACCCTGTCTTGAAAAAAAAGAGGGGGGAAATGTGGACACAGACATGCACAACGAGAA... |
Task1_train_10031 | Here is a variant affecting MAK (male germ cell associated kinase) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Retinal dystrophy | AAAAGGTAATTAAGTTTAAGTGAGGTCTTTCAGGTAGGCCCAAATCTGATATGACTGGTGTCCTTATAAGAGGAGCCTGGGCAACATGGCAAGACCCCATCACTCCAAAAAAATTTTTTAAAAATTAGCCACATGTTGTGGTACACGCCTACAGTCCCAACTACTCTGGAGGCTGAGGCAGGAGGATGGTTCAAGCCCAGGAGGCTGAGGCTATAGTGAGCTATGTTTGTACCACCGTACCTCAGCCTGGGCGACAGAATGGAACCCTGTCTTGAAAAAAAAGAGGGGGGAAATGTGGACACAGACATGCACAACGAGAA... | AAAAGGTAATTAAGTTTAAGTGAGGTCTTTCAGGTAGGCCCAAATCTGATATGACTGGTGTCCTTATAAGAGGAGCCTGGGCAACATGGCAAGACCCCATCACTCCAAAAAAATTTTTTAAAAATTAGCCACATGTTGTGGTACACGCCTACAGTCCCAACTACTCTGGAGGCTGAGGCAGGAGGATGGTTCAAGCCCAGGAGGCTGAGGCTATAGTGAGCTATGTTTGTACCACCGTACCTCAGCCTGGGCGACAGAATGGAACCCTGTCTTGAAAAAAAAGAGGGGGGAAATGTGGACACAGACATGCACAACGAGAA... |
Task1_train_10032 | This genomic variant is located on Chromosome 6, within the MAK (male germ cell associated kinase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Retinitis pigmentosa | AAAAGGTAATTAAGTTTAAGTGAGGTCTTTCAGGTAGGCCCAAATCTGATATGACTGGTGTCCTTATAAGAGGAGCCTGGGCAACATGGCAAGACCCCATCACTCCAAAAAAATTTTTTAAAAATTAGCCACATGTTGTGGTACACGCCTACAGTCCCAACTACTCTGGAGGCTGAGGCAGGAGGATGGTTCAAGCCCAGGAGGCTGAGGCTATAGTGAGCTATGTTTGTACCACCGTACCTCAGCCTGGGCGACAGAATGGAACCCTGTCTTGAAAAAAAAGAGGGGGGAAATGTGGACACAGACATGCACAACGAGAA... | AAAAGGTAATTAAGTTTAAGTGAGGTCTTTCAGGTAGGCCCAAATCTGATATGACTGGTGTCCTTATAAGAGGAGCCTGGGCAACATGGCAAGACCCCATCACTCCAAAAAAATTTTTTAAAAATTAGCCACATGTTGTGGTACACGCCTACAGTCCCAACTACTCTGGAGGCTGAGGCAGGAGGATGGTTCAAGCCCAGGAGGCTGAGGCTATAGTGAGCTATGTTTGTACCACCGTACCTCAGCCTGGGCGACAGAATGGAACCCTGTCTTGAAAAAAAAGAGGGGGGAAATGTGGACACAGACATGCACAACGAGAA... |
Task1_train_10033 | An alteration has been detected in MAK (male germ cell associated kinase) on Chromosome 6. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Retinitis pigmentosa 62 | AAAAGGTAATTAAGTTTAAGTGAGGTCTTTCAGGTAGGCCCAAATCTGATATGACTGGTGTCCTTATAAGAGGAGCCTGGGCAACATGGCAAGACCCCATCACTCCAAAAAAATTTTTTAAAAATTAGCCACATGTTGTGGTACACGCCTACAGTCCCAACTACTCTGGAGGCTGAGGCAGGAGGATGGTTCAAGCCCAGGAGGCTGAGGCTATAGTGAGCTATGTTTGTACCACCGTACCTCAGCCTGGGCGACAGAATGGAACCCTGTCTTGAAAAAAAAGAGGGGGGAAATGTGGACACAGACATGCACAACGAGAA... | AAAAGGTAATTAAGTTTAAGTGAGGTCTTTCAGGTAGGCCCAAATCTGATATGACTGGTGTCCTTATAAGAGGAGCCTGGGCAACATGGCAAGACCCCATCACTCCAAAAAAATTTTTTAAAAATTAGCCACATGTTGTGGTACACGCCTACAGTCCCAACTACTCTGGAGGCTGAGGCAGGAGGATGGTTCAAGCCCAGGAGGCTGAGGCTATAGTGAGCTATGTTTGTACCACCGTACCTCAGCCTGGGCGACAGAATGGAACCCTGTCTTGAAAAAAAAGAGGGGGGAAATGTGGACACAGACATGCACAACGAGAA... |
Task1_train_10034 | Located on Chromosome 6, this mutation impacts GCM2 (glial cells missing transcription factor 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | AACCTCTCTGAGCCTCAGATCCTTCATCTTAAAAATGGAACTTAATAACAGTAACCTCATTATAAGGTTTCTGCAACCATTAAATGTGTGAAACTCTTAGACCAGTGCCTGGCACATAGGAAGTGCTGGAAAATGTCAGCTTCTGTTATCCTTACACTAACACTCTGCCTGCTTGGCGTGCTTTGGTTGAAAAGCCAAACTGAATTAAATTGCGCAGAGAAATTTTATCCATTCTTGTGGATGAAATAATGGAAAGGACCCTCTCAAGGGTGCACTGTTAACTTCCTGTTGGTAGGCACATATTTCTATCTTTATTACTG... | AACCTCTCTGAGCCTCAGATCCTTCATCTTAAAAATGGAACTTAATAACAGTAACCTCATTATAAGGTTTCTGCAACCATTAAATGTGTGAAACTCTTAGACCAGTGCCTGGCACATAGGAAGTGCTGGAAAATGTCAGCTTCTGTTATCCTTACACTAACACTCTGCCTGCTTGGCGTGCTTTGGTTGAAAAGCCAAACTGAATTAAATTGCGCAGAGAAATTTTATCCATTCTTGTGGATGAAATAATGGAAAGGACCCTCTCAAGGGTGCACTGTTAACTTCCTGTTGGTAGGCACATATTTCTATCTTTATTACTG... |
Task1_train_10035 | This sequence change occurs on Chromosome 6, altering HIVEP1 (HIVEP zinc finger 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not specified | AGTGCCGATCAAACAGTGAGTCCACCAACTCCCTTTGCCAGAAGGTTACCCAGCACAGAACAAGACTCTGGAAGGAGTAACGGACCCTCTGCAGCTCTTGTCACCACGTCAACACCCTCTGCTTTGCCCACAGGGGAAAAGGCATTGCTTTTACCAGGTCAGATGCGCCCACCTTTGGCCACAAAAACACTTGAGGAGCGGATATCGAAGCTTATCTCAGACAATGAAGCTTTGGTAGATGACAAGCAACTGGATAGTGTGAAGCCGCGGAGAACCTCACTGTCAAGACGAGGAAGCATTGATTCCCCCAAATCATACAT... | AGTGCCGATCAAACAGTGAGTCCACCAACTCCCTTTGCCAGAAGGTTACCCAGCACAGAACAAGACTCTGGAAGGAGTAACGGACCCTCTGCAGCTCTTGTCACCACGTCAACACCCTCTGCTTTGCCCACAGGGGAAAAGGCATTGCTTTTACCAGGTCAGATGCGCCCACCTTTGGCCACAAAAACACTTGAGGAGCGGATATCGAAGCTTATCTCAGACAATGAAGCTTTGGTAGATGACAAGCAACTGGATAGTGTGAAGCCGCGGAGAACCTCACTGTCAAGACGAGGAAGCATTGATTCCCCCAAATCATACAT... |
Task1_train_10036 | A mutation in EDN1 (endothelin 1), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Question mark ears, isolated | TCTCCACCGCCGCGTGCGCCTGCAGACGCTCCGCTCGCTGCCTTCTCTCCTGGCAGGCGCTGCCTTTTCTCCCCGTTAAAAGGGCACTTGGGCTGAAGGATCGCTTTGAGATCTGAGGAACCCGCAGCGCTTTGAGGGACCTGAAGCTGTTTTTCTTCGTTTTCCTTTGGGTTCAGTTTGAACGGGAGGTTTTTGATCCCTTTTTTTCAGAATGGATTATTTGCTCATGATTTTCTCTCTGCTGTTTGTGGCTTGCCAAGGAGCTCCAGAAACAGGTAGGCACGCTCGTTGACTTGTAAGTCTCGGAATTACAAGTTAGT... | TCTCCACCGCCGCGTGCGCCTGCAGACGCTCCGCTCGCTGCCTTCTCTCCTGGCAGGCGCTGCCTTTTCTCCCCGTTAAAAGGGCACTTGGGCTGAAGGATCGCTTTGAGATCTGAGGAACCCGCAGCGCTTTGAGGGACCTGAAGCTGTTTTTCTTCGTTTTCCTTTGGGTTCAGTTTGAACGGGAGGTTTTTGATCCCTTTTTTTCAGAATGGATTATTTGCTCATGATTTTCTCTCTGCTGTTTGTGGCTTGCCAAGGAGCTCCAGAAACAGGTAGGCACGCTCGTTGACTTGTAAGTCTCGGAATTACAAGTTAGT... |
Task1_train_10037 | Here is a genetic alteration in EDN1 (endothelin 1) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Auriculocondylar syndrome 3 | GCCTTCTCTCCTGGCAGGCGCTGCCTTTTCTCCCCGTTAAAAGGGCACTTGGGCTGAAGGATCGCTTTGAGATCTGAGGAACCCGCAGCGCTTTGAGGGACCTGAAGCTGTTTTTCTTCGTTTTCCTTTGGGTTCAGTTTGAACGGGAGGTTTTTGATCCCTTTTTTTCAGAATGGATTATTTGCTCATGATTTTCTCTCTGCTGTTTGTGGCTTGCCAAGGAGCTCCAGAAACAGGTAGGCACGCTCGTTGACTTGTAAGTCTCGGAATTACAAGTTAGTGTGTTCTTATCCACCTTCATGCTTTTCTTGCTTCTATTT... | GCCTTCTCTCCTGGCAGGCGCTGCCTTTTCTCCCCGTTAAAAGGGCACTTGGGCTGAAGGATCGCTTTGAGATCTGAGGAACCCGCAGCGCTTTGAGGGACCTGAAGCTGTTTTTCTTCGTTTTCCTTTGGGTTCAGTTTGAACGGGAGGTTTTTGATCCCTTTTTTTCAGAATGGATTATTTGCTCATGATTTTCTCTCTGCTGTTTGTGGCTTGCCAAGGAGCTCCAGAAACAGGTAGGCACGCTCGTTGACTTGTAAGTCTCGGAATTACAAGTTAGTGTGTTCTTATCCACCTTCATGCTTTTCTTGCTTCTATTT... |
Task1_train_10038 | Here is a variant affecting EDN1 (endothelin 1) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Auriculocondylar syndrome 3 | TTCTTGTCTTTAGTCATGTGCCAATGTTAAGTAAGCTTCAGTGGATAGTGCTGTCCTACCAAGTTCCTTGTAGAAGCCAGCCGGATTTTCAACAGGCAGCATTCCACAGCATTTCCCTGAGCCTGCTTCAAGAGGGGTGGGGGAAGTCCCTTTTCAGGTGTTTATCTCCTCTGCATTTGTGTAATCTCCCTGAAGGTGGATAAGCCAAGGGCATGAGGGGGAGGCAAAAGGTGAACTCATGTTAAGGAGGGAAAAAAATAAAGAGCCCTTTTTTCTGTGTTTCTTGCTGATGGCAGGCTGTGTGCTTCATCTGCTTTTAT... | TTCTTGTCTTTAGTCATGTGCCAATGTTAAGTAAGCTTCAGTGGATAGTGCTGTCCTACCAAGTTCCTTGTAGAAGCCAGCCGGATTTTCAACAGGCAGCATTCCACAGCATTTCCCTGAGCCTGCTTCAAGAGGGGTGGGGGAAGTCCCTTTTCAGGTGTTTATCTCCTCTGCATTTGTGTAATCTCCCTGAAGGTGGATAAGCCAAGGGCATGAGGGGGAGGCAAAAGGTGAACTCATGTTAAGGAGGGAAAAAAATAAAGAGCCCTTTTTTCTGTGTTTCTTGCTGATGGCAGGCTGTGTGCTTCATCTGCTTTTAT... |
Task1_train_10039 | This variant lies on Chromosome 6 and affects the gene PHACTR1, TBC1D7-LOC100130357 (phosphatase and actin regulator 1| TBC1D7-LOC100130357 readthrough). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Developmental and epileptic encephalopathy, 70 | AAAAGAGGTTTAATTGGCTCATGGTTCTGCAGGCTATACAGGCAGCATGGCCCTGGCATTTGCTTGACTTCTAGGGAGGCCTCAGGAAACTTCCAATCATGGAGGAAGGTGAAGGAGAAGAAGGCACATCACATGGCAAAAGCAGGAGCAAGAGAGAGAGAGAGAGTGAGCAGGGAGTTGCCACATGCTTTTTTTTTTTCTTTTTTTTTTTTTGAGACAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCAATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAA... | AAAAGAGGTTTAATTGGCTCATGGTTCTGCAGGCTATACAGGCAGCATGGCCCTGGCATTTGCTTGACTTCTAGGGAGGCCTCAGGAAACTTCCAATCATGGAGGAAGGTGAAGGAGAAGAAGGCACATCACATGGCAAAAGCAGGAGCAAGAGAGAGAGAGAGAGTGAGCAGGGAGTTGCCACATGCTTTTTTTTTTTCTTTTTTTTTTTTTGAGACAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCAATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAA... |
Task1_train_10040 | This sequence variant lies in PHACTR1, TBC1D7-LOC100130357 (phosphatase and actin regulator 1| TBC1D7-LOC100130357 readthrough) on Chromosome 6. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Developmental and epileptic encephalopathy, 70 | GGCAGCATGGCCCTGGCATTTGCTTGACTTCTAGGGAGGCCTCAGGAAACTTCCAATCATGGAGGAAGGTGAAGGAGAAGAAGGCACATCACATGGCAAAAGCAGGAGCAAGAGAGAGAGAGAGAGTGAGCAGGGAGTTGCCACATGCTTTTTTTTTTTCTTTTTTTTTTTTTGAGACAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCAATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGTGCCACCATGCCCGGCTAA... | GGCAGCATGGCCCTGGCATTTGCTTGACTTCTAGGGAGGCCTCAGGAAACTTCCAATCATGGAGGAAGGTGAAGGAGAAGAAGGCACATCACATGGCAAAAGCAGGAGCAAGAGAGAGAGAGAGAGTGAGCAGGGAGTTGCCACATGCTTTTTTTTTTTCTTTTTTTTTTTTTGAGACAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCAATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGTGCCACCATGCCCGGCTAA... |
Task1_train_10041 | A sequence alteration has been identified in LOC100130357, LOC129995804, PHACTR1, TBC1D7-LOC100130357 (uncharacterized LOC100130357| ATAC-STARR-seq lymphoblastoid active region 24022| phosphatase and actin regulator 1| TBC1D7-LOC100130357 readthrough) on Chromosome 6. Is it disease-inducing or harmless? | Pathogenic; Developmental and epileptic encephalopathy, 70 | TGTGCTGCCTTTCTACAAAGCCTTATGCCCACAGGCGGTTGGGGGGCCAAATCAGGCCCGTGGGGGTGGCCCTCAAGGGCCTGATTTCTGCTCTGACCTTACACCACTTGTGCTAGTGGGAGGTATAGTCACCTTGAGTGTAAAGGTGACACAGTTATCAGATGGTCCCCACCCCTTTCTAGGCACAGGGGGTTTCCTTCCTTTAAAGACCTGTCCCAAGGCCGGGCGCGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAATATG... | TGTGCTGCCTTTCTACAAAGCCTTATGCCCACAGGCGGTTGGGGGGCCAAATCAGGCCCGTGGGGGTGGCCCTCAAGGGCCTGATTTCTGCTCTGACCTTACACCACTTGTGCTAGTGGGAGGTATAGTCACCTTGAGTGTAAAGGTGACACAGTTATCAGATGGTCCCCACCCCTTTCTAGGCACAGGGGGTTTCCTTCCTTTAAAGACCTGTCCCAAGGCCGGGCGCGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAATATG... |
Task1_train_10042 | Here is a variant affecting NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Myoclonic epilepsy of Lafora 2 | AAGAGAAAAATCTTTTGAATTGGCTCTACTAATTCTAAAATCATTAAAATGTCATTGTTCCTAAGGAAAATGGTCTAAGATCTATCCTCAGTTGCTGTACTCACAAATGACCAAATAAGTCTGAATTCGTATCTCCACCTGCAACAACGTTTCTTGTTATGTTTTCAGAATACCCGTGAAGTTACCAGCCTAGGGGTGACTTTAAGGGTGGAGTGTGTGCATGTGGGGAGAAGAGGTTTGTCCATAGAACTTCTTTTTAAAATGCATTTATAAATCGTGGTCTAGGGTGCCCCAAATCTTACTATTAGTGCTATATGATG... | AAGAGAAAAATCTTTTGAATTGGCTCTACTAATTCTAAAATCATTAAAATGTCATTGTTCCTAAGGAAAATGGTCTAAGATCTATCCTCAGTTGCTGTACTCACAAATGACCAAATAAGTCTGAATTCGTATCTCCACCTGCAACAACGTTTCTTGTTATGTTTTCAGAATACCCGTGAAGTTACCAGCCTAGGGGTGACTTTAAGGGTGGAGTGTGTGCATGTGGGGAGAAGAGGTTTGTCCATAGAACTTCTTTTTAAAATGCATTTATAAATCGTGGTCTAGGGTGCCCCAAATCTTACTATTAGTGCTATATGATG... |
Task1_train_10043 | A variant was discovered on Chromosome 6, affecting NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Lafora disease | GTTAGGCTCTCGCTTTTACTTTACGTGGGCGAGGCACAGTGGCTCATACCTATAGTCCCAATGCTTTGGGAGGCCAAGGCAGGAGGCTCTCTTGAGCCCAGGAGCTTGAAACCAGTTTGGGCAACAAAAACAAGATCCCATCCCTACGAAAAATTTAAAAATTAGCTGGGCATGGTGACACACCTGTAGTCCCAGCTACTCAGGATGCTGACGCAGGAGGATCGCTTGAGCCCAGGGAGTCGAGGCTGCAGTGAGCAGTGATCAATCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCATGTCTAAAAGCAAACAAA... | GTTAGGCTCTCGCTTTTACTTTACGTGGGCGAGGCACAGTGGCTCATACCTATAGTCCCAATGCTTTGGGAGGCCAAGGCAGGAGGCTCTCTTGAGCCCAGGAGCTTGAAACCAGTTTGGGCAACAAAAACAAGATCCCATCCCTACGAAAAATTTAAAAATTAGCTGGGCATGGTGACACACCTGTAGTCCCAGCTACTCAGGATGCTGACGCAGGAGGATCGCTTGAGCCCAGGGAGTCGAGGCTGCAGTGAGCAGTGATCAATCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCATGTCTAAAAGCAAACAAA... |
Task1_train_10044 | Here is a genetic alteration in NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Lafora disease | GTCATCAGCCCTTTGACGCTAGTATGTAGTGTGTTCTGCAATAGTTTAGAACTTACACAAATATAGGCCTTTCTCAAACAACCAAGTGGTATTTTCTGAGTTTGTATAGTGGAGAAGATATAGGCGTTAAAAGACATGTTTACTTTTTTAATAAGCAGTTCAATTGTTTTTCTTATTCACGTAACTCAGGATCAACAGTAACTTCATCTAATGTGCCATCAGAGCAGTCGCAAATTGAATGAAAGTGATGGCCACCACAAAATCCTTTTTCTCCTGAACTCTCCATAAAGTCTCCTTTCTTTGCACATCTTTGTGCTAAA... | GTCATCAGCCCTTTGACGCTAGTATGTAGTGTGTTCTGCAATAGTTTAGAACTTACACAAATATAGGCCTTTCTCAAACAACCAAGTGGTATTTTCTGAGTTTGTATAGTGGAGAAGATATAGGCGTTAAAAGACATGTTTACTTTTTTAATAAGCAGTTCAATTGTTTTTCTTATTCACGTAACTCAGGATCAACAGTAACTTCATCTAATGTGCCATCAGAGCAGTCGCAAATTGAATGAAAGTGATGGCCACCACAAAATCCTTTTTCTCCTGAACTCTCCATAAAGTCTCCTTTCTTTGCACATCTTTGTGCTAAA... |
Task1_train_10045 | A genetic alteration is present in NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Myoclonic epilepsy of Lafora 2 | GTCATCAGCCCTTTGACGCTAGTATGTAGTGTGTTCTGCAATAGTTTAGAACTTACACAAATATAGGCCTTTCTCAAACAACCAAGTGGTATTTTCTGAGTTTGTATAGTGGAGAAGATATAGGCGTTAAAAGACATGTTTACTTTTTTAATAAGCAGTTCAATTGTTTTTCTTATTCACGTAACTCAGGATCAACAGTAACTTCATCTAATGTGCCATCAGAGCAGTCGCAAATTGAATGAAAGTGATGGCCACCACAAAATCCTTTTTCTCCTGAACTCTCCATAAAGTCTCCTTTCTTTGCACATCTTTGTGCTAAA... | GTCATCAGCCCTTTGACGCTAGTATGTAGTGTGTTCTGCAATAGTTTAGAACTTACACAAATATAGGCCTTTCTCAAACAACCAAGTGGTATTTTCTGAGTTTGTATAGTGGAGAAGATATAGGCGTTAAAAGACATGTTTACTTTTTTAATAAGCAGTTCAATTGTTTTTCTTATTCACGTAACTCAGGATCAACAGTAACTTCATCTAATGTGCCATCAGAGCAGTCGCAAATTGAATGAAAGTGATGGCCACCACAAAATCCTTTTTCTCCTGAACTCTCCATAAAGTCTCCTTTCTTTGCACATCTTTGTGCTAAA... |
Task1_train_10046 | Assess the clinical impact of this variant on gene NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | AAAGACATGTTTACTTTTTTAATAAGCAGTTCAATTGTTTTTCTTATTCACGTAACTCAGGATCAACAGTAACTTCATCTAATGTGCCATCAGAGCAGTCGCAAATTGAATGAAAGTGATGGCCACCACAAAATCCTTTTTCTCCTGAACTCTCCATAAAGTCTCCTTTCTTTGCACATCTTTGTGCTAAAATAATTAGCTACTTGTAAAGACAGTACACATAGCAACACTACACATTCACATATTTTTCCCACATCTGTTGTCTTATTTAAGCGCAACTTATTTGGAATCAGAATTGAATTCAAATTGGGACTAAGGCA... | AAAGACATGTTTACTTTTTTAATAAGCAGTTCAATTGTTTTTCTTATTCACGTAACTCAGGATCAACAGTAACTTCATCTAATGTGCCATCAGAGCAGTCGCAAATTGAATGAAAGTGATGGCCACCACAAAATCCTTTTTCTCCTGAACTCTCCATAAAGTCTCCTTTCTTTGCACATCTTTGTGCTAAAATAATTAGCTACTTGTAAAGACAGTACACATAGCAACACTACACATTCACATATTTTTCCCACATCTGTTGTCTTATTTAAGCGCAACTTATTTGGAATCAGAATTGAATTCAAATTGGGACTAAGGCA... |
Task1_train_10047 | This variant impacts the gene SOX4 (SRY-box transcription factor 4) on Chromosome 6. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | AAGCAATCTTTAATTTTGAAAACAGGGAAAACAAATATTTAGAAAGTAAAACCGATTTCCATCCTTTACATGCCATTATACATCCTATACAAAACTCTGGAAATCTGCCTATTGAGGTAATTACGGAGCACTACCTAATGTGTTTCAAGGGAAAGCTCCCCTGTTTGGGCTATGCAGGATTTACAGGGAGTTTAAATCATTAAATAACCATAGTTGACCCTTGCTTGGTTAAGAGAGTAAGCAATTATTGCAAAGTCCTCTTCCCTGCCTTCCACAAACAGCACAAAAACGGTTCTGAAGGGATTTACACAATACATCAA... | AAGCAATCTTTAATTTTGAAAACAGGGAAAACAAATATTTAGAAAGTAAAACCGATTTCCATCCTTTACATGCCATTATACATCCTATACAAAACTCTGGAAATCTGCCTATTGAGGTAATTACGGAGCACTACCTAATGTGTTTCAAGGGAAAGCTCCCCTGTTTGGGCTATGCAGGATTTACAGGGAGTTTAAATCATTAAATAACCATAGTTGACCCTTGCTTGGTTAAGAGAGTAAGCAATTATTGCAAAGTCCTCTTCCCTGCCTTCCACAAACAGCACAAAAACGGTTCTGAAGGGATTTACACAATACATCAA... |
Task1_train_10048 | Gene DCDC2 (doublecortin domain containing 2), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Nonsyndromic Deafness | ATCACAAACTAGGCACTTCCTTATTTGAATTCCCAAGAATTTAGATTCACTCTCATTACATACCACAGGTCAATGCCAAATTACATAACCTTGATCTTGACGGATGCCCAATTCCTATCAAAAGCCTATTTTTCCCCTTTAAAAAAATATTCATTTGTCATAATTGGCAAATAAAAATTGTATGTTTATAGCATACAAAATGATGTTTTGAAATATGTATCCATTGTGAAATGGCTTGAGTTAATTAACATACACCTTACCTCACATACTTATCTTTTGTGGTGAGAACCCTTCAAATCTGCTCTGTTAGTGATTTTCAA... | ATCACAAACTAGGCACTTCCTTATTTGAATTCCCAAGAATTTAGATTCACTCTCATTACATACCACAGGTCAATGCCAAATTACATAACCTTGATCTTGACGGATGCCCAATTCCTATCAAAAGCCTATTTTTCCCCTTTAAAAAAATATTCATTTGTCATAATTGGCAAATAAAAATTGTATGTTTATAGCATACAAAATGATGTTTTGAAATATGTATCCATTGTGAAATGGCTTGAGTTAATTAACATACACCTTACCTCACATACTTATCTTTTGTGGTGAGAACCCTTCAAATCTGCTCTGTTAGTGATTTTCAA... |
Task1_train_10049 | A mutation found in DCDC2, KAAG1 (doublecortin domain containing 2| kidney associated DCDC2 antisense RNA 1) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Isolated neonatal sclerosing cholangitis | TTCCTTTAAGCATGCAATTTCATTTAGCCCTTTTTTACGAAGTTTAACAAAGCATGCTTAAGAAGCTTCAGGGGAGGGAAAAATAAATCCAAATATATCCCTCACTTTCCATGAAAAGAATGTCTGACGTAACAAAAAGTATAATAGAATACCTAGAACTCAATTTAAACAAATATAGGAGAAGAAGGATTACATTCAAGAATTTTAGTGATATTTTGAAAAATATTTCTATGTAGTTATAAGACTTTATTTGAATTTTAATTATTAAGAATCCAATAATGCTTATGAATTCATAAGCTTAGATTTATGGTCAAGGCTTT... | TTCCTTTAAGCATGCAATTTCATTTAGCCCTTTTTTACGAAGTTTAACAAAGCATGCTTAAGAAGCTTCAGGGGAGGGAAAAATAAATCCAAATATATCCCTCACTTTCCATGAAAAGAATGTCTGACGTAACAAAAAGTATAATAGAATACCTAGAACTCAATTTAAACAAATATAGGAGAAGAAGGATTACATTCAAGAATTTTAGTGATATTTTGAAAAATATTTCTATGTAGTTATAAGACTTTATTTGAATTTTAATTATTAAGAATCCAATAATGCTTATGAATTCATAAGCTTAGATTTATGGTCAAGGCTTT... |
Task1_train_10050 | Given this variant in gene ALDH5A1, GPLD1, LOC129995978 (aldehyde dehydrogenase 5 family member A1| glycosylphosphatidylinositol specific phospholipase D1| ATAC-STARR-seq lymphoblastoid silent region 16989) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Succinate-semialdehyde dehydrogenase deficiency | AGCACTTTGGGAGGCCAAGGAGGGCGGATAACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACACGGTGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACACACCTGTAGCCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAAGTTGCAGGGAGCTGAAATCGCACCACTGCACTCCACCCTGGGTGACAGAATGAGTCTGTCGGTCTCACAAGAACAAAACAAACAAAAAACAAAAACCACCACCAAAAACAAAACAAAACAAAAACAAAAACTCC... | AGCACTTTGGGAGGCCAAGGAGGGCGGATAACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACACGGTGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACACACCTGTAGCCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAAGTTGCAGGGAGCTGAAATCGCACCACTGCACTCCACCCTGGGTGACAGAATGAGTCTGTCGGTCTCACAAGAACAAAACAAACAAAAAACAAAAACCACCACCAAAAACAAAACAAAACAAAAACAAAAACTCC... |
Task1_train_10051 | The gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Succinate-semialdehyde dehydrogenase deficiency | AGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTAAAGCCAGGAGTCTGAGGTTGCAGTGAGCTATGATTGCGCCACTGCACTCCAGCCTGGGCATCAGATCAAGACCGTATCTAAAATAATAATAATAATAATAATAATAATAATAATAACGTAGGGAACTATATACCTTTGTATGGTAAAATTAAAGTTGTTCTTATTTACCATAAGCAATAATAGCTGTTTCCACAAAACTTATTTTATCTTTTATAATTTATGACGCAGTATACCTCTTTAGATGCAACTTGAAATTGGATCTCTATTACTCATCAAAGAAGGGTC... | AGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTAAAGCCAGGAGTCTGAGGTTGCAGTGAGCTATGATTGCGCCACTGCACTCCAGCCTGGGCATCAGATCAAGACCGTATCTAAAATAATAATAATAATAATAATAATAATAATAATAACGTAGGGAACTATATACCTTTGTATGGTAAAATTAAAGTTGTTCTTATTTACCATAAGCAATAATAGCTGTTTCCACAAAACTTATTTTATCTTTTATAATTTATGACGCAGTATACCTCTTTAGATGCAACTTGAAATTGGATCTCTATTACTCATCAAAGAAGGGTC... |
Task1_train_10052 | This sequence change occurs on Chromosome 6, altering ALDH5A1 (aldehyde dehydrogenase 5 family member A1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Succinate-semialdehyde dehydrogenase deficiency | CTTTGGGAGGCCAAGGCAGGAGGATCGCTTAAAGCCAGGAGTCTGAGGTTGCAGTGAGCTATGATTGCGCCACTGCACTCCAGCCTGGGCATCAGATCAAGACCGTATCTAAAATAATAATAATAATAATAATAATAATAATAATAACGTAGGGAACTATATACCTTTGTATGGTAAAATTAAAGTTGTTCTTATTTACCATAAGCAATAATAGCTGTTTCCACAAAACTTATTTTATCTTTTATAATTTATGACGCAGTATACCTCTTTAGATGCAACTTGAAATTGGATCTCTATTACTCATCAAAGAAGGGTCAGTT... | CTTTGGGAGGCCAAGGCAGGAGGATCGCTTAAAGCCAGGAGTCTGAGGTTGCAGTGAGCTATGATTGCGCCACTGCACTCCAGCCTGGGCATCAGATCAAGACCGTATCTAAAATAATAATAATAATAATAATAATAATAATAATAACGTAGGGAACTATATACCTTTGTATGGTAAAATTAAAGTTGTTCTTATTTACCATAAGCAATAATAGCTGTTTCCACAAAACTTATTTTATCTTTTATAATTTATGACGCAGTATACCTCTTTAGATGCAACTTGAAATTGGATCTCTATTACTCATCAAAGAAGGGTCAGTT... |
Task1_train_10053 | Mutation context: Chromosome 6, Gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Succinate-semialdehyde dehydrogenase deficiency | TTCTTCCCCTGTAGTTGCCAATTCTGCATGTACTAGTCCTCTAGAAATAGGTTAAACTGAATCAACTTGATGGAAGGAACTCTCCACAGGGCTTGTTTTCCAAAGAAAAGTATAGTTTGGAGAAGCAAAGTTACAAGCCTACCTAAGCATATCATAAAGCTGTTCAGAAATAACTCAGAGCCAGTCTCGTGGATGGAAATGTAGTGCCTGAGTCACATTCTGCTTAAAGTTGTAACAGACACAGAGGAGTTAAAAAAATAGCTGAGCGTGATGATGTGTGCCTGTGGTCCCAGCTACTCAGTAGTAGGCTGAGCTGGGGG... | TTCTTCCCCTGTAGTTGCCAATTCTGCATGTACTAGTCCTCTAGAAATAGGTTAAACTGAATCAACTTGATGGAAGGAACTCTCCACAGGGCTTGTTTTCCAAAGAAAAGTATAGTTTGGAGAAGCAAAGTTACAAGCCTACCTAAGCATATCATAAAGCTGTTCAGAAATAACTCAGAGCCAGTCTCGTGGATGGAAATGTAGTGCCTGAGTCACATTCTGCTTAAAGTTGTAACAGACACAGAGGAGTTAAAAAAATAGCTGAGCGTGATGATGTGTGCCTGTGGTCCCAGCTACTCAGTAGTAGGCTGAGCTGGGGG... |
Task1_train_10054 | Here is a genetic alteration in ALDH5A1 (aldehyde dehydrogenase 5 family member A1) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Succinate-semialdehyde dehydrogenase deficiency | TAGTCCTCTAGAAATAGGTTAAACTGAATCAACTTGATGGAAGGAACTCTCCACAGGGCTTGTTTTCCAAAGAAAAGTATAGTTTGGAGAAGCAAAGTTACAAGCCTACCTAAGCATATCATAAAGCTGTTCAGAAATAACTCAGAGCCAGTCTCGTGGATGGAAATGTAGTGCCTGAGTCACATTCTGCTTAAAGTTGTAACAGACACAGAGGAGTTAAAAAAATAGCTGAGCGTGATGATGTGTGCCTGTGGTCCCAGCTACTCAGTAGTAGGCTGAGCTGGGGGGATCACTTGAACCAAGGAAGCAGAGGTTGCAGT... | TAGTCCTCTAGAAATAGGTTAAACTGAATCAACTTGATGGAAGGAACTCTCCACAGGGCTTGTTTTCCAAAGAAAAGTATAGTTTGGAGAAGCAAAGTTACAAGCCTACCTAAGCATATCATAAAGCTGTTCAGAAATAACTCAGAGCCAGTCTCGTGGATGGAAATGTAGTGCCTGAGTCACATTCTGCTTAAAGTTGTAACAGACACAGAGGAGTTAAAAAAATAGCTGAGCGTGATGATGTGTGCCTGTGGTCCCAGCTACTCAGTAGTAGGCTGAGCTGGGGGGATCACTTGAACCAAGGAAGCAGAGGTTGCAGT... |
Task1_train_10055 | Consider this mutation in ALDH5A1 (aldehyde dehydrogenase 5 family member A1) on Chromosome 6. Is this a benign change or a disease-causing variant? | Pathogenic; Succinate-semialdehyde dehydrogenase deficiency | TCCACAGGGCTTGTTTTCCAAAGAAAAGTATAGTTTGGAGAAGCAAAGTTACAAGCCTACCTAAGCATATCATAAAGCTGTTCAGAAATAACTCAGAGCCAGTCTCGTGGATGGAAATGTAGTGCCTGAGTCACATTCTGCTTAAAGTTGTAACAGACACAGAGGAGTTAAAAAAATAGCTGAGCGTGATGATGTGTGCCTGTGGTCCCAGCTACTCAGTAGTAGGCTGAGCTGGGGGGATCACTTGAACCAAGGAAGCAGAGGTTGCAGTGAGGTATGATCACACCACTGCACTTCAGCCTGGGTGACAGAACAAAACC... | TCCACAGGGCTTGTTTTCCAAAGAAAAGTATAGTTTGGAGAAGCAAAGTTACAAGCCTACCTAAGCATATCATAAAGCTGTTCAGAAATAACTCAGAGCCAGTCTCGTGGATGGAAATGTAGTGCCTGAGTCACATTCTGCTTAAAGTTGTAACAGACACAGAGGAGTTAAAAAAATAGCTGAGCGTGATGATGTGTGCCTGTGGTCCCAGCTACTCAGTAGTAGGCTGAGCTGGGGGGATCACTTGAACCAAGGAAGCAGAGGTTGCAGTGAGGTATGATCACACCACTGCACTTCAGCCTGGGTGACAGAACAAAACC... |
Task1_train_10056 | The gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Succinate-semialdehyde dehydrogenase deficiency | TTTTAAACTTGTTTTTGTACATTTTTTAATGTACCAATACTTCTTCCATAGATATAATAAATTATTTCATATCGTGGTTACAATACTTAGAAGATATTGAAAGGAGGAAAAAATTAGATGTTTCCTAATTTGTAAACATATTGAGAATGCAATGACTTGTGGTTTAGGGTGATACATTCATCATTGTAATTCTGCTTTTTAAAACTCACACCAAAGTCAGAAATTTTCCCCACTCTATGGGTATCGTTATAGGAGACTTTTCTACTCTTGTTGCATCTTGAAGAATTTAGGAACACAGAGCCATGCTTTTATTATTAGAA... | TTTTAAACTTGTTTTTGTACATTTTTTAATGTACCAATACTTCTTCCATAGATATAATAAATTATTTCATATCGTGGTTACAATACTTAGAAGATATTGAAAGGAGGAAAAAATTAGATGTTTCCTAATTTGTAAACATATTGAGAATGCAATGACTTGTGGTTTAGGGTGATACATTCATCATTGTAATTCTGCTTTTTAAAACTCACACCAAAGTCAGAAATTTTCCCCACTCTATGGGTATCGTTATAGGAGACTTTTCTACTCTTGTTGCATCTTGAAGAATTTAGGAACACAGAGCCATGCTTTTATTATTAGAA... |
Task1_train_10057 | The gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Succinate-semialdehyde dehydrogenase deficiency | GCTCAAGCGTTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGCACCACCATACCCAGCTAATTTTGTTTTTTATTTTTTCGTAGAGATAGGGTCTCACTATGTTGCGTAGCCTGGTATAGAACTTCTGGGCTCAAGCAGTCCTCCCACATCAGCCTCCCAAAGTGCTGGGGTTACAAGCATGAGCCACCACACCCAGCCTCTTTTCTTTTAACAACTTTTTATGGGATTTGACCTCAGTGTTCTTGTCAGAATTTTATTTTTATGTGAAGTTAGTTTTCTGAACTTTTGGAAGAAGGCCCAGTTAGGAA... | GCTCAAGCGTTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGCACCACCATACCCAGCTAATTTTGTTTTTTATTTTTTCGTAGAGATAGGGTCTCACTATGTTGCGTAGCCTGGTATAGAACTTCTGGGCTCAAGCAGTCCTCCCACATCAGCCTCCCAAAGTGCTGGGGTTACAAGCATGAGCCACCACACCCAGCCTCTTTTCTTTTAACAACTTTTTATGGGATTTGACCTCAGTGTTCTTGTCAGAATTTTATTTTTATGTGAAGTTAGTTTTCTGAACTTTTGGAAGAAGGCCCAGTTAGGAA... |
Task1_train_10058 | Consider this mutation in ALDH5A1 (aldehyde dehydrogenase 5 family member A1) on Chromosome 6. Is this a benign change or a disease-causing variant? | Pathogenic; Succinate-semialdehyde dehydrogenase deficiency | GACTACAGGTGTGCACCACCATACCCAGCTAATTTTGTTTTTTATTTTTTCGTAGAGATAGGGTCTCACTATGTTGCGTAGCCTGGTATAGAACTTCTGGGCTCAAGCAGTCCTCCCACATCAGCCTCCCAAAGTGCTGGGGTTACAAGCATGAGCCACCACACCCAGCCTCTTTTCTTTTAACAACTTTTTATGGGATTTGACCTCAGTGTTCTTGTCAGAATTTTATTTTTATGTGAAGTTAGTTTTCTGAACTTTTGGAAGAAGGCCCAGTTAGGAATATAGCTTCTTTTCCTTCACAGTGTACCTTTTGCTTCCTT... | GACTACAGGTGTGCACCACCATACCCAGCTAATTTTGTTTTTTATTTTTTCGTAGAGATAGGGTCTCACTATGTTGCGTAGCCTGGTATAGAACTTCTGGGCTCAAGCAGTCCTCCCACATCAGCCTCCCAAAGTGCTGGGGTTACAAGCATGAGCCACCACACCCAGCCTCTTTTCTTTTAACAACTTTTTATGGGATTTGACCTCAGTGTTCTTGTCAGAATTTTATTTTTATGTGAAGTTAGTTTTCTGAACTTTTGGAAGAAGGCCCAGTTAGGAATATAGCTTCTTTTCCTTCACAGTGTACCTTTTGCTTCCTT... |
Task1_train_10059 | Gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Inborn genetic diseases | GACTACAGGTGTGCACCACCATACCCAGCTAATTTTGTTTTTTATTTTTTCGTAGAGATAGGGTCTCACTATGTTGCGTAGCCTGGTATAGAACTTCTGGGCTCAAGCAGTCCTCCCACATCAGCCTCCCAAAGTGCTGGGGTTACAAGCATGAGCCACCACACCCAGCCTCTTTTCTTTTAACAACTTTTTATGGGATTTGACCTCAGTGTTCTTGTCAGAATTTTATTTTTATGTGAAGTTAGTTTTCTGAACTTTTGGAAGAAGGCCCAGTTAGGAATATAGCTTCTTTTCCTTCACAGTGTACCTTTTGCTTCCTT... | GACTACAGGTGTGCACCACCATACCCAGCTAATTTTGTTTTTTATTTTTTCGTAGAGATAGGGTCTCACTATGTTGCGTAGCCTGGTATAGAACTTCTGGGCTCAAGCAGTCCTCCCACATCAGCCTCCCAAAGTGCTGGGGTTACAAGCATGAGCCACCACACCCAGCCTCTTTTCTTTTAACAACTTTTTATGGGATTTGACCTCAGTGTTCTTGTCAGAATTTTATTTTTATGTGAAGTTAGTTTTCTGAACTTTTGGAAGAAGGCCCAGTTAGGAATATAGCTTCTTTTCCTTCACAGTGTACCTTTTGCTTCCTT... |
Task1_train_10060 | A sequence alteration has been identified in ALDH5A1 (aldehyde dehydrogenase 5 family member A1) on Chromosome 6. Is it disease-inducing or harmless? | Pathogenic; Succinate-semialdehyde dehydrogenase deficiency | GAGACTGAGTGGGGAGAGGACACTGTCAGAGGACACAGAGCCAGTGCAGGTGGAGGGACAGACACCAGAGACAGGACCTGTGCTCAAGGCCAGGTGGAGGCAAAATGGAGTGACCCAACAGTGAGAATCATTTTTGCACTGAAGCAAATCCAGGAAAAGTCAATGACGTTTCTTAAAAATTTTTAAATAAAAACATAAAAAAAGTTTAAATAGTTATGTTGCGTCCGATAAAGAAATATGTTTAGTCTTAAAACTTGAACTACTTTGTTGAACAGTAATGTTTCAGAGAAGATTGTTACTACCATTTGATTGCTGGAATA... | GAGACTGAGTGGGGAGAGGACACTGTCAGAGGACACAGAGCCAGTGCAGGTGGAGGGACAGACACCAGAGACAGGACCTGTGCTCAAGGCCAGGTGGAGGCAAAATGGAGTGACCCAACAGTGAGAATCATTTTTGCACTGAAGCAAATCCAGGAAAAGTCAATGACGTTTCTTAAAAATTTTTAAATAAAAACATAAAAAAAGTTTAAATAGTTATGTTGCGTCCGATAAAGAAATATGTTTAGTCTTAAAACTTGAACTACTTTGTTGAACAGTAATGTTTCAGAGAAGATTGTTACTACCATTTGATTGCTGGAATA... |
Task1_train_10061 | This alteration occurs within gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; Succinate-semialdehyde dehydrogenase deficiency | TCGACTTTGCCTTTTGGGGAAGGGAGCTGCCCTTATGTGAAGCCTGCAAGTTAGAATAAACCCAAGCTTAAAACAGCAAAGACCACTCATGCCACACATCCCCAAATTGATCAACCCAGTCCTTGTGTGTGTGTGTGTCCCCCAAACACACTGCTGGAGCTGAGAAGGAGCTGACCAGGTTAGTTTCGACAACTCAGTCCTTCATTCAGAAAGATGAACAACCAAGGATCATGATGGGAAAACCACCAGCACATAAGAGGAAAGGTCAGGAAGAACAAACAGAATAGTCCCTGAAGGAAGCAGATAAATTAGGGAACTGG... | TCGACTTTGCCTTTTGGGGAAGGGAGCTGCCCTTATGTGAAGCCTGCAAGTTAGAATAAACCCAAGCTTAAAACAGCAAAGACCACTCATGCCACACATCCCCAAATTGATCAACCCAGTCCTTGTGTGTGTGTGTGTCCCCCAAACACACTGCTGGAGCTGAGAAGGAGCTGACCAGGTTAGTTTCGACAACTCAGTCCTTCATTCAGAAAGATGAACAACCAAGGATCATGATGGGAAAACCACCAGCACATAAGAGGAAAGGTCAGGAAGAACAAACAGAATAGTCCCTGAAGGAAGCAGATAAATTAGGGAACTGG... |
Task1_train_10062 | A genetic alteration is present in ALDH5A1 (aldehyde dehydrogenase 5 family member A1) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Succinate-semialdehyde dehydrogenase deficiency | TGAAGCCTGCAAGTTAGAATAAACCCAAGCTTAAAACAGCAAAGACCACTCATGCCACACATCCCCAAATTGATCAACCCAGTCCTTGTGTGTGTGTGTGTCCCCCAAACACACTGCTGGAGCTGAGAAGGAGCTGACCAGGTTAGTTTCGACAACTCAGTCCTTCATTCAGAAAGATGAACAACCAAGGATCATGATGGGAAAACCACCAGCACATAAGAGGAAAGGTCAGGAAGAACAAACAGAATAGTCCCTGAAGGAAGCAGATAAATTAGGGAACTGGAAGGAAATTTTCTAAAAATCTCATAGTGTCCTGCAAG... | TGAAGCCTGCAAGTTAGAATAAACCCAAGCTTAAAACAGCAAAGACCACTCATGCCACACATCCCCAAATTGATCAACCCAGTCCTTGTGTGTGTGTGTGTCCCCCAAACACACTGCTGGAGCTGAGAAGGAGCTGACCAGGTTAGTTTCGACAACTCAGTCCTTCATTCAGAAAGATGAACAACCAAGGATCATGATGGGAAAACCACCAGCACATAAGAGGAAAGGTCAGGAAGAACAAACAGAATAGTCCCTGAAGGAAGCAGATAAATTAGGGAACTGGAAGGAAATTTTCTAAAAATCTCATAGTGTCCTGCAAG... |
Task1_train_10063 | Assess the clinical impact of this variant on gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Succinate-semialdehyde dehydrogenase deficiency | TAAAGCTAGAAGAGATGGCCTGGGCTTTGGTGCATTCCTTCATTTCAGAGAGGAGGAGACTCCAAGCATCGTGCCATTGTTAAGCAGTGGTGGAGGACACATTAGAACCTGGCCCCAACCCCTTCTGAACGTTTTCTTTCTGCTACATCAGGCTTGCTTCTAAAGTAGTTGTTATGATTGTTATATATTCCCAGTGGGTACCAAGAATAGTAATCCTTTTTTTTTAAAGGGATTTTGTTTGATATTCTGGATATGCCACAGTTCCCTACATGTTGGTCTGCTTTTTTCTTGTTCTCTTAGGAGAGATGAAGCCAGTATTG... | TAAAGCTAGAAGAGATGGCCTGGGCTTTGGTGCATTCCTTCATTTCAGAGAGGAGGAGACTCCAAGCATCGTGCCATTGTTAAGCAGTGGTGGAGGACACATTAGAACCTGGCCCCAACCCCTTCTGAACGTTTTCTTTCTGCTACATCAGGCTTGCTTCTAAAGTAGTTGTTATGATTGTTATATATTCCCAGTGGGTACCAAGAATAGTAATCCTTTTTTTTTAAAGGGATTTTGTTTGATATTCTGGATATGCCACAGTTCCCTACATGTTGGTCTGCTTTTTTCTTGTTCTCTTAGGAGAGATGAAGCCAGTATTG... |
Task1_train_10064 | This mutation is located in gene HFE (homeostatic iron regulator) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not specified | ATGAAGGAAATAAGAATGATATTGACTGGGAGCAGTATTTCCCAGGCAAACTGAGTGGGCCTGGCAAGTTGGATTAAAAAGCGGGTTTTCTCAGCACTACTCATGTGTGTGTGTGTGGGGGGGGGGGGCGGCGTGGGGGTGGGAAGGGGGACTACCATCTGCATGTAGGATGTCTAGCAGTATCCTGTCCTCCCTACTCACTAGGTGCTAGGAGCACTCCCCCAGTCTTGACAACCAAAAATGTCTCTAAACTTTGCCACATGTCACCTAGTAGACAAACTCCTGGTTAAGAAGCTCGGGTTGAAAAAAATAAACAAGTA... | ATGAAGGAAATAAGAATGATATTGACTGGGAGCAGTATTTCCCAGGCAAACTGAGTGGGCCTGGCAAGTTGGATTAAAAAGCGGGTTTTCTCAGCACTACTCATGTGTGTGTGTGTGGGGGGGGGGGGCGGCGTGGGGGTGGGAAGGGGGACTACCATCTGCATGTAGGATGTCTAGCAGTATCCTGTCCTCCCTACTCACTAGGTGCTAGGAGCACTCCCCCAGTCTTGACAACCAAAAATGTCTCTAAACTTTGCCACATGTCACCTAGTAGACAAACTCCTGGTTAAGAAGCTCGGGTTGAAAAAAATAAACAAGTA... |
Task1_train_10065 | Assess the clinical impact of this variant on gene HFE (homeostatic iron regulator), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not specified | ACAAGTAGTGCTGGGGAGTAGAGGCCAAGAAGTAGGTAATGGGCTCAGAAGAGGAGCCACAAACAAGGTTGTGCAGGCGCCTGTAGGCTGTGGTGTGAATTCTAGCCAAGGAGTAACAGTGATCTGTCACAGGCTTTTAAAAGATTGCTCTGGCTGCTATGTGGAAAGCAGAATGAAGGGAGCAACAGTAAAAGCAGGGAGCCCAGCCAGGAAGCTGTTACACAGTCCAGGCAAGAGGTAGTGGAGTGGGCTGGGTGGGAACAGAAAAGGGAGTGACAAACCATTGTCTCCTGAATATATTCTGAAGGAAGTTGCTGAAG... | ACAAGTAGTGCTGGGGAGTAGAGGCCAAGAAGTAGGTAATGGGCTCAGAAGAGGAGCCACAAACAAGGTTGTGCAGGCGCCTGTAGGCTGTGGTGTGAATTCTAGCCAAGGAGTAACAGTGATCTGTCACAGGCTTTTAAAAGATTGCTCTGGCTGCTATGTGGAAAGCAGAATGAAGGGAGCAACAGTAAAAGCAGGGAGCCCAGCCAGGAAGCTGTTACACAGTCCAGGCAAGAGGTAGTGGAGTGGGCTGGGTGGGAACAGAAAAGGGAGTGACAAACCATTGTCTCCTGAATATATTCTGAAGGAAGTTGCTGAAG... |
Task1_train_10066 | This genomic variant is located on Chromosome 6, within the HFE (homeostatic iron regulator) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary hemochromatosis | GCAGAATGAAGGGAGCAACAGTAAAAGCAGGGAGCCCAGCCAGGAAGCTGTTACACAGTCCAGGCAAGAGGTAGTGGAGTGGGCTGGGTGGGAACAGAAAAGGGAGTGACAAACCATTGTCTCCTGAATATATTCTGAAGGAAGTTGCTGAAGGATTCTATGTTGTGTGAGAGAAAGAGAAGAATTGGCTGGGTGTAGTAGCTCATGCCAAGGAGGAGGCCAAGGAGAGCAGATTCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAAACCCCTTCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGT... | GCAGAATGAAGGGAGCAACAGTAAAAGCAGGGAGCCCAGCCAGGAAGCTGTTACACAGTCCAGGCAAGAGGTAGTGGAGTGGGCTGGGTGGGAACAGAAAAGGGAGTGACAAACCATTGTCTCCTGAATATATTCTGAAGGAAGTTGCTGAAGGATTCTATGTTGTGTGAGAGAAAGAGAAGAATTGGCTGGGTGTAGTAGCTCATGCCAAGGAGGAGGCCAAGGAGAGCAGATTCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAAACCCCTTCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGT... |
Task1_train_10067 | This variant affects the gene HFE (homeostatic iron regulator) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hemochromatosis type 1 | GCAGAATGAAGGGAGCAACAGTAAAAGCAGGGAGCCCAGCCAGGAAGCTGTTACACAGTCCAGGCAAGAGGTAGTGGAGTGGGCTGGGTGGGAACAGAAAAGGGAGTGACAAACCATTGTCTCCTGAATATATTCTGAAGGAAGTTGCTGAAGGATTCTATGTTGTGTGAGAGAAAGAGAAGAATTGGCTGGGTGTAGTAGCTCATGCCAAGGAGGAGGCCAAGGAGAGCAGATTCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAAACCCCTTCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGT... | GCAGAATGAAGGGAGCAACAGTAAAAGCAGGGAGCCCAGCCAGGAAGCTGTTACACAGTCCAGGCAAGAGGTAGTGGAGTGGGCTGGGTGGGAACAGAAAAGGGAGTGACAAACCATTGTCTCCTGAATATATTCTGAAGGAAGTTGCTGAAGGATTCTATGTTGTGTGAGAGAAAGAGAAGAATTGGCTGGGTGTAGTAGCTCATGCCAAGGAGGAGGCCAAGGAGAGCAGATTCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAAACCCCTTCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGT... |
Task1_train_10068 | A change on Chromosome 6 affects gene HFE (homeostatic iron regulator). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hemochromatosis type 1 | TGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGGTATGTGGAGAGGGGGCCTCACCTTCCTGAGGTTGTCAGAGCTTTTCATCTTTTCATGCATCTTGAAGGAAACAGCTGGAAGT... | TGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGGTATGTGGAGAGGGGGCCTCACCTTCCTGAGGTTGTCAGAGCTTTTCATCTTTTCATGCATCTTGAAGGAAACAGCTGGAAGT... |
Task1_train_10069 | Consider a variant on Chromosome 6 in gene HFE (homeostatic iron regulator). Determine its clinical classification and disease relevance. | Pathogenic; Incidental Discovery | TGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGGTATGTGGAGAGGGGGCCTCACCTTCCTGAGGTTGTCAGAGCTTTTCATCTTTTCATGCATCTTGAAGGAAACAGCTGGAAGT... | TGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGGTATGTGGAGAGGGGGCCTCACCTTCCTGAGGTTGTCAGAGCTTTTCATCTTTTCATGCATCTTGAAGGAAACAGCTGGAAGT... |
Task1_train_10070 | With a mutation on Chromosome 6 in gene HFE (homeostatic iron regulator), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary hemochromatosis | TGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGGTATGTGGAGAGGGGGCCTCACCTTCCTGAGGTTGTCAGAGCTTTTCATCTTTTCATGCATCTTGAAGGAAACAGCTGGAAGT... | TGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGGTATGTGGAGAGGGGGCCTCACCTTCCTGAGGTTGTCAGAGCTTTTCATCTTTTCATGCATCTTGAAGGAAACAGCTGGAAGT... |
Task1_train_10071 | Given this variant in gene HFE (homeostatic iron regulator) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hemochromatosis type 1 | TTGAAGGAAACAGCTGGAAGTCTGAGGTCTTGTGGGAGCAGGGAAGAGGGAAGGAATTTGCTTCCTGAGATCATTTGGTCCTTGGGGATGGTGGAAATAGGGACCTATTCCTTTGGTTGCAGTTAACAAGGCTGGGGATTTTTCCAGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGCAAGAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAACCCAGGGCCTGGCCCACCAAGCTGGAGTGGGAAAGG... | TTGAAGGAAACAGCTGGAAGTCTGAGGTCTTGTGGGAGCAGGGAAGAGGGAAGGAATTTGCTTCCTGAGATCATTTGGTCCTTGGGGATGGTGGAAATAGGGACCTATTCCTTTGGTTGCAGTTAACAAGGCTGGGGATTTTTCCAGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGCAAGAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAACCCAGGGCCTGGCCCACCAAGCTGGAGTGGGAAAGG... |
Task1_train_10072 | This variant lies on Chromosome 6 and affects the gene H4C3 (H4 clustered histone 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | TTCATGTATCCTCTCAACCACAACTTGTTTGCAGAGTTTTAATCTGAAGGGCTTAGGTCTCTTGTTCAATGAATGAGTTTGATCTGATGGGTGAGAGGAAGGTGAAATGGAAAGCGAACGAGAAGCCATACAGATTAGGCGAGTGAGCCTAATCTCTCCCTAACCATAAGATTGAGTATGCCTGAATTCTTCGCAGAGTGGAAGAATCCATTTTAAATATATATATCTACATGTACAGATCCTTTAAATATTTGTTCTGACATTCATTGTTTTTGAGTCACTGTCATTGAGAAAAGTTTAGAAAGGAGATATTAGGAGCA... | TTCATGTATCCTCTCAACCACAACTTGTTTGCAGAGTTTTAATCTGAAGGGCTTAGGTCTCTTGTTCAATGAATGAGTTTGATCTGATGGGTGAGAGGAAGGTGAAATGGAAAGCGAACGAGAAGCCATACAGATTAGGCGAGTGAGCCTAATCTCTCCCTAACCATAAGATTGAGTATGCCTGAATTCTTCGCAGAGTGGAAGAATCCATTTTAAATATATATATCTACATGTACAGATCCTTTAAATATTTGTTCTGACATTCATTGTTTTTGAGTCACTGTCATTGAGAAAAGTTTAGAAAGGAGATATTAGGAGCA... |
Task1_train_10073 | Gene H4C3 (H4 clustered histone 3) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; HIST1H4C-associated disorder | TATGCCTGAATTCTTCGCAGAGTGGAAGAATCCATTTTAAATATATATATCTACATGTACAGATCCTTTAAATATTTGTTCTGACATTCATTGTTTTTGAGTCACTGTCATTGAGAAAAGTTTAGAAAGGAGATATTAGGAGCAGGAAATAGAAAGTAAATAAAATATCAAAATAAAAATGGGGTTTTATAAATGATATAATAGGCAAAATAAAGGAAAGGCATCCTAGACCTCTGGTTAAAATGAAGATGGCACTTGGCGAGATGTGTTCCAGGGTAGTTCACATGATGTATGTTTTCAGAGAATTGTCATATTGCATA... | TATGCCTGAATTCTTCGCAGAGTGGAAGAATCCATTTTAAATATATATATCTACATGTACAGATCCTTTAAATATTTGTTCTGACATTCATTGTTTTTGAGTCACTGTCATTGAGAAAAGTTTAGAAAGGAGATATTAGGAGCAGGAAATAGAAAGTAAATAAAATATCAAAATAAAAATGGGGTTTTATAAATGATATAATAGGCAAAATAAAGGAAAGGCATCCTAGACCTCTGGTTAAAATGAAGATGGCACTTGGCGAGATGTGTTCCAGGGTAGTTCACATGATGTATGTTTTCAGAGAATTGTCATATTGCATA... |
Task1_train_10074 | This sequence variant lies in H4C3 (H4 clustered histone 3) on Chromosome 6. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Tessadori-van Haaften neurodevelopmental syndrome 1 | TATGCCTGAATTCTTCGCAGAGTGGAAGAATCCATTTTAAATATATATATCTACATGTACAGATCCTTTAAATATTTGTTCTGACATTCATTGTTTTTGAGTCACTGTCATTGAGAAAAGTTTAGAAAGGAGATATTAGGAGCAGGAAATAGAAAGTAAATAAAATATCAAAATAAAAATGGGGTTTTATAAATGATATAATAGGCAAAATAAAGGAAAGGCATCCTAGACCTCTGGTTAAAATGAAGATGGCACTTGGCGAGATGTGTTCCAGGGTAGTTCACATGATGTATGTTTTCAGAGAATTGTCATATTGCATA... | TATGCCTGAATTCTTCGCAGAGTGGAAGAATCCATTTTAAATATATATATCTACATGTACAGATCCTTTAAATATTTGTTCTGACATTCATTGTTTTTGAGTCACTGTCATTGAGAAAAGTTTAGAAAGGAGATATTAGGAGCAGGAAATAGAAAGTAAATAAAATATCAAAATAAAAATGGGGTTTTATAAATGATATAATAGGCAAAATAAAGGAAAGGCATCCTAGACCTCTGGTTAAAATGAAGATGGCACTTGGCGAGATGTGTTCCAGGGTAGTTCACATGATGTATGTTTTCAGAGAATTGTCATATTGCATA... |
Task1_train_10075 | Given this variant in gene LOC129996027, H4C5 (ATAC-STARR-seq lymphoblastoid active region 24208| H4 clustered histone 5) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Tessadori-Van Haaften neurodevelopmental syndrome 3 | GCCGAAAAAACTTAAAAAAAAAAAATTCAGTAATGTATTAACTAATGTTCTATTAAATTACAATTTTATATATATAATACAAATATGTAAATACTATTAAAATTATTATAGAAGCATGTAAATTCTTCCTAAATATCACAGTCTCACAGAGTTTTGATATTGCTGGCATTTTAACAGCAGCAATTTACAGTTCCTTTTTGTTTAGTTTCTACATATTTGATTTCTTTTCACAGTAGAAGTCCTAACATTTGCATGCCTAGCAGGGCATACAAATTAACTAACATGTACCCAGTAGCCTTCGAACTGAAGACTCAAAGATA... | GCCGAAAAAACTTAAAAAAAAAAAATTCAGTAATGTATTAACTAATGTTCTATTAAATTACAATTTTATATATATAATACAAATATGTAAATACTATTAAAATTATTATAGAAGCATGTAAATTCTTCCTAAATATCACAGTCTCACAGAGTTTTGATATTGCTGGCATTTTAACAGCAGCAATTTACAGTTCCTTTTTGTTTAGTTTCTACATATTTGATTTCTTTTCACAGTAGAAGTCCTAACATTTGCATGCCTAGCAGGGCATACAAATTAACTAACATGTACCCAGTAGCCTTCGAACTGAAGACTCAAAGATA... |
Task1_train_10076 | Here is a variant affecting H4C5, LOC129996027 (H4 clustered histone 5| ATAC-STARR-seq lymphoblastoid active region 24208) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Tessadori-Van Haaften neurodevelopmental syndrome 3 | GAAAAAACTTAAAAAAAAAAAATTCAGTAATGTATTAACTAATGTTCTATTAAATTACAATTTTATATATATAATACAAATATGTAAATACTATTAAAATTATTATAGAAGCATGTAAATTCTTCCTAAATATCACAGTCTCACAGAGTTTTGATATTGCTGGCATTTTAACAGCAGCAATTTACAGTTCCTTTTTGTTTAGTTTCTACATATTTGATTTCTTTTCACAGTAGAAGTCCTAACATTTGCATGCCTAGCAGGGCATACAAATTAACTAACATGTACCCAGTAGCCTTCGAACTGAAGACTCAAAGATACAG... | GAAAAAACTTAAAAAAAAAAAATTCAGTAATGTATTAACTAATGTTCTATTAAATTACAATTTTATATATATAATACAAATATGTAAATACTATTAAAATTATTATAGAAGCATGTAAATTCTTCCTAAATATCACAGTCTCACAGAGTTTTGATATTGCTGGCATTTTAACAGCAGCAATTTACAGTTCCTTTTTGTTTAGTTTCTACATATTTGATTTCTTTTCACAGTAGAAGTCCTAACATTTGCATGCCTAGCAGGGCATACAAATTAACTAACATGTACCCAGTAGCCTTCGAACTGAAGACTCAAAGATACAG... |
Task1_train_10077 | The following genetic variant occurs in H4C5, LOC129996027 (H4 clustered histone 5| ATAC-STARR-seq lymphoblastoid active region 24208) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Tessadori-Van Haaften neurodevelopmental syndrome 3 | TTAAAAAAAAAAAATTCAGTAATGTATTAACTAATGTTCTATTAAATTACAATTTTATATATATAATACAAATATGTAAATACTATTAAAATTATTATAGAAGCATGTAAATTCTTCCTAAATATCACAGTCTCACAGAGTTTTGATATTGCTGGCATTTTAACAGCAGCAATTTACAGTTCCTTTTTGTTTAGTTTCTACATATTTGATTTCTTTTCACAGTAGAAGTCCTAACATTTGCATGCCTAGCAGGGCATACAAATTAACTAACATGTACCCAGTAGCCTTCGAACTGAAGACTCAAAGATACAGGGGAAATC... | TTAAAAAAAAAAAATTCAGTAATGTATTAACTAATGTTCTATTAAATTACAATTTTATATATATAATACAAATATGTAAATACTATTAAAATTATTATAGAAGCATGTAAATTCTTCCTAAATATCACAGTCTCACAGAGTTTTGATATTGCTGGCATTTTAACAGCAGCAATTTACAGTTCCTTTTTGTTTAGTTTCTACATATTTGATTTCTTTTCACAGTAGAAGTCCTAACATTTGCATGCCTAGCAGGGCATACAAATTAACTAACATGTACCCAGTAGCCTTCGAACTGAAGACTCAAAGATACAGGGGAAATC... |
Task1_train_10078 | An alteration has been detected in H4C5 (H4 clustered histone 5) on Chromosome 6. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not specified | TTTAGTTTCTACATATTTGATTTCTTTTCACAGTAGAAGTCCTAACATTTGCATGCCTAGCAGGGCATACAAATTAACTAACATGTACCCAGTAGCCTTCGAACTGAAGACTCAAAGATACAGGGGAAATCATACATTTTTATGCTTAGATTCAACAAAGTAGGGACAGCTGTGTAGAAATATGATTGGACACAAAGGGTACGAGCTAATGCTAATAGACTGAGCTAATGATAATAGCCCAGCAAGGCCTGTCTATATTCTTGGACTTTCTTGGGCAGCATTCTCTCCTCCTGGGAATAGGACAAGCCCTCTCTTGAATC... | TTTAGTTTCTACATATTTGATTTCTTTTCACAGTAGAAGTCCTAACATTTGCATGCCTAGCAGGGCATACAAATTAACTAACATGTACCCAGTAGCCTTCGAACTGAAGACTCAAAGATACAGGGGAAATCATACATTTTTATGCTTAGATTCAACAAAGTAGGGACAGCTGTGTAGAAATATGATTGGACACAAAGGGTACGAGCTAATGCTAATAGACTGAGCTAATGATAATAGCCCAGCAAGGCCTGTCTATATTCTTGGACTTTCTTGGGCAGCATTCTCTCCTCCTGGGAATAGGACAAGCCCTCTCTTGAATC... |
Task1_train_10079 | A variant affecting Chromosome 6, within the gene H2BC12, H4C9 (H2B clustered histone 12| H4 clustered histone 9), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Tessadori-Van Haaften neurodevelopmental syndrome 4 | GGTTGCAAAAGCAGAAAGAAATCTTGCTTATTATGTATGGCTACATTGGATAGGTTTTGCAATTCGAAGTCAGGTGACAGCTAAAGTTCAGCCCATTTTCTCGCTGGAAACTGGGAGACAGACCACTATCTTTTTTAATGATTAACATTTCAAAGGGATGGCTCTCCAGGCATTGAGAAAATATTCTGAGTTATAAGGCCTATTTAGCCATTAAAAGGATTTACATACATTTTAAAAGGACAGAGAAAGACATTTTGAAAGTGATGGGAAAGGAAAGGGAAGTCTTTTGTTTTCAACAGATAATTAAGCCTCTCATTTTT... | GGTTGCAAAAGCAGAAAGAAATCTTGCTTATTATGTATGGCTACATTGGATAGGTTTTGCAATTCGAAGTCAGGTGACAGCTAAAGTTCAGCCCATTTTCTCGCTGGAAACTGGGAGACAGACCACTATCTTTTTTAATGATTAACATTTCAAAGGGATGGCTCTCCAGGCATTGAGAAAATATTCTGAGTTATAAGGCCTATTTAGCCATTAAAAGGATTTACATACATTTTAAAAGGACAGAGAAAGACATTTTGAAAGTGATGGGAAAGGAAAGGGAAGTCTTTTGTTTTCAACAGATAATTAAGCCTCTCATTTTT... |
Task1_train_10080 | A mutation on Chromosome 6 affecting H2BC12, H4C9 (H2B clustered histone 12| H4 clustered histone 9) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Tessadori-Van Haaften neurodevelopmental syndrome 4 | GGAAACTGGGAGACAGACCACTATCTTTTTTAATGATTAACATTTCAAAGGGATGGCTCTCCAGGCATTGAGAAAATATTCTGAGTTATAAGGCCTATTTAGCCATTAAAAGGATTTACATACATTTTAAAAGGACAGAGAAAGACATTTTGAAAGTGATGGGAAAGGAAAGGGAAGTCTTTTGTTTTCAACAGATAATTAAGCCTCTCATTTTTAATTTGTATTTACCCTTAGATTAACGTATTCAATTAACCTATGCTACCTTACCCTCTTTACAACATATACTGAATTCAGCTACAGCAAGTTACAGCCAGTCATAT... | GGAAACTGGGAGACAGACCACTATCTTTTTTAATGATTAACATTTCAAAGGGATGGCTCTCCAGGCATTGAGAAAATATTCTGAGTTATAAGGCCTATTTAGCCATTAAAAGGATTTACATACATTTTAAAAGGACAGAGAAAGACATTTTGAAAGTGATGGGAAAGGAAAGGGAAGTCTTTTGTTTTCAACAGATAATTAAGCCTCTCATTTTTAATTTGTATTTACCCTTAGATTAACGTATTCAATTAACCTATGCTACCTTACCCTCTTTACAACATATACTGAATTCAGCTACAGCAAGTTACAGCCAGTCATAT... |
Task1_train_10081 | A variant affecting Chromosome 6, within the gene H4C11 (H4 clustered histone 11), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Tessadori-van Haaften neurodevelopmental syndrome 2 | GTAAGTCAAATAATTTCTTTGTGGCCAGTTTTTACACGAAAAAATAAAATTTTTAGGTTTCTTATTGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGATGGAGTCTCACTCAGTTGTCTAGCCTGGAGTGCTGTGGTGTGATTTCGGCTCAATGTAAGCGCCGCTTCCCAGGTTCAAGAGATTCTCCTGCCTCACCCTCCTGAGTAGCTAATATTACAGGTATGTGACACCACGCCCAGTTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAAGTCCTGACTTTAAGTG... | GTAAGTCAAATAATTTCTTTGTGGCCAGTTTTTACACGAAAAAATAAAATTTTTAGGTTTCTTATTGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGATGGAGTCTCACTCAGTTGTCTAGCCTGGAGTGCTGTGGTGTGATTTCGGCTCAATGTAAGCGCCGCTTCCCAGGTTCAAGAGATTCTCCTGCCTCACCCTCCTGAGTAGCTAATATTACAGGTATGTGACACCACGCCCAGTTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAAGTCCTGACTTTAAGTG... |
Task1_train_10082 | This mutation occurs in MOG (myelin oligodendrocyte glycoprotein) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Narcolepsy 7 | TTCAAGCGATTCTCCTGACTTGGCCTCCCAAGTAGCGGAGACTACAGGCGCCTGCCACCACACCCAGCTAAATTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGTATTTTAGTACAGACGGGGTTTCACATGTTGGCCAGGATGGTCTCGATCTCTTGACCTGCTGATCCGCCCGCCTCAGCTTCCCAAAGTACTGGGATTATGGGCGTGAGCCACTGCACTAGGCCTAATTTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGGTCTGCCCTCCTCAGC... | TTCAAGCGATTCTCCTGACTTGGCCTCCCAAGTAGCGGAGACTACAGGCGCCTGCCACCACACCCAGCTAAATTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGTATTTTAGTACAGACGGGGTTTCACATGTTGGCCAGGATGGTCTCGATCTCTTGACCTGCTGATCCGCCCGCCTCAGCTTCCCAAAGTACTGGGATTATGGGCGTGAGCCACTGCACTAGGCCTAATTTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGGTCTGCCCTCCTCAGC... |
Task1_train_10083 | Chromosome 6 houses a mutation in gene ZFP57 (ZFP57 zinc finger protein). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Diabetes mellitus, transient neonatal, 1 | TTGTTTTCAGGGCAATTCCTTGAAGAGCTACGTAAGTTCTCTTCTCTCTGTTATAAGCAGAGAATAAAAAGCCAGGAAAGGGAGACAGAAGCAACAAGAGGAAGAGGCGGGCTATTGAGGGATCACATTCCCAGAGGAAAGGAGGAGCTGGAGAGCCTGGGTGGAGGGAAGACTCCTCCTGGGAGGTAGAGGGCAAAGAAGCCAGCTGTTAGAGACACATTTACAGGTGGCAGAGAAGCTGGAGGCACTCCTATCTGCCACCTGATCCATTCCTCCTTCACTGCCCCTAAGCAGGAATCCAACCCTAGCTGGTCTCATTG... | TTGTTTTCAGGGCAATTCCTTGAAGAGCTACGTAAGTTCTCTTCTCTCTGTTATAAGCAGAGAATAAAAAGCCAGGAAAGGGAGACAGAAGCAACAAGAGGAAGAGGCGGGCTATTGAGGGATCACATTCCCAGAGGAAAGGAGGAGCTGGAGAGCCTGGGTGGAGGGAAGACTCCTCCTGGGAGGTAGAGGGCAAAGAAGCCAGCTGTTAGAGACACATTTACAGGTGGCAGAGAAGCTGGAGGCACTCCTATCTGCCACCTGATCCATTCCTCCTTCACTGCCCCTAAGCAGGAATCCAACCCTAGCTGGTCTCATTG... |
Task1_train_10084 | Given this context: Chromosome 6, gene ZFP57 (ZFP57 zinc finger protein) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Diabetes mellitus, transient neonatal, 1 | ATTTGTCCTTGGGGACATCTCATCCATCAAGTTGCACACTCACTGGCATCTTTGCTATGGGGACATTCCAATTTGCACTTTCAGGAACACTCTGAATTCCAAGTAGAATTGATTTCCCTTCTTCTGTCATCTACCTTTTCTCTTCATTTTCCCATTTTTATTACCCTTCTTTCCATTTCTCTCTCCAGTCTTCCACCTGGAAGCCCTCTCTGGCTAAGGACAGGCAGGTGCCCCTCTCTCCATCAGAGGACACCTGTACTGGAGAGCAACACAGGATGGTCTCTGCCATGAACTGGAGGCCAGGAATCTCCTCACTGAAA... | ATTTGTCCTTGGGGACATCTCATCCATCAAGTTGCACACTCACTGGCATCTTTGCTATGGGGACATTCCAATTTGCACTTTCAGGAACACTCTGAATTCCAAGTAGAATTGATTTCCCTTCTTCTGTCATCTACCTTTTCTCTTCATTTTCCCATTTTTATTACCCTTCTTTCCATTTCTCTCTCCAGTCTTCCACCTGGAAGCCCTCTCTGGCTAAGGACAGGCAGGTGCCCCTCTCTCCATCAGAGGACACCTGTACTGGAGAGCAACACAGGATGGTCTCTGCCATGAACTGGAGGCCAGGAATCTCCTCACTGAAA... |
Task1_train_10085 | This gene mutation involves ZFP57 (ZFP57 zinc finger protein) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; Diabetes mellitus, transient neonatal, 1 | ACACTCTGAATTCCAAGTAGAATTGATTTCCCTTCTTCTGTCATCTACCTTTTCTCTTCATTTTCCCATTTTTATTACCCTTCTTTCCATTTCTCTCTCCAGTCTTCCACCTGGAAGCCCTCTCTGGCTAAGGACAGGCAGGTGCCCCTCTCTCCATCAGAGGACACCTGTACTGGAGAGCAACACAGGATGGTCTCTGCCATGAACTGGAGGCCAGGAATCTCCTCACTGAAAATTACAGTATGGTAACTTTGCAAATGGTGGTTGTTTCTTCCAAGACTCCAGCCCTGATTGCGCAAAACTGAAAGGCATGTGAAGGG... | ACACTCTGAATTCCAAGTAGAATTGATTTCCCTTCTTCTGTCATCTACCTTTTCTCTTCATTTTCCCATTTTTATTACCCTTCTTTCCATTTCTCTCTCCAGTCTTCCACCTGGAAGCCCTCTCTGGCTAAGGACAGGCAGGTGCCCCTCTCTCCATCAGAGGACACCTGTACTGGAGAGCAACACAGGATGGTCTCTGCCATGAACTGGAGGCCAGGAATCTCCTCACTGAAAATTACAGTATGGTAACTTTGCAAATGGTGGTTGTTTCTTCCAAGACTCCAGCCCTGATTGCGCAAAACTGAAAGGCATGTGAAGGG... |
Task1_train_10086 | This genomic variant is located on Chromosome 6, within the TUBB (tubulin beta class I) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Multiple benign circumferential skin creases on limbs 1 | GGGGTTTCTCCATGTTGGTCAGTCTGGTCTCAAACTCCGGACCTCAGGTGATTCTCCCGCCTGGGCCTCCCAATGTGCTGGGATTACAGGCGTAAGCCACTGCGCCCGGCCTATTTTATCTCACAATAAGACATGAAGAAAATGGTAACTATAACACTTGCATAATTCATAAAGTCCTTTCTGTTGGTTATCTCAATTCTGTGCACAACAGTCAAATAAGCAGATTTTACAAACGAGGAGCTGGAGCCCTGCAAAGTTAAAGGACTTTCCTAGGATCCTACAGCTAATATAGAGACAAATTGAAACAAGTTATCTGATTG... | GGGGTTTCTCCATGTTGGTCAGTCTGGTCTCAAACTCCGGACCTCAGGTGATTCTCCCGCCTGGGCCTCCCAATGTGCTGGGATTACAGGCGTAAGCCACTGCGCCCGGCCTATTTTATCTCACAATAAGACATGAAGAAAATGGTAACTATAACACTTGCATAATTCATAAAGTCCTTTCTGTTGGTTATCTCAATTCTGTGCACAACAGTCAAATAAGCAGATTTTACAAACGAGGAGCTGGAGCCCTGCAAAGTTAAAGGACTTTCCTAGGATCCTACAGCTAATATAGAGACAAATTGAAACAAGTTATCTGATTG... |
Task1_train_10087 | The gene TUBB (tubulin beta class I) on Chromosome 6 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Complex cortical dysplasia with other brain malformations 6 | GCCCAGCTTGGGGGAAGGAGAGCGGCGCTTATCGAAGTGTGGTCGACCTCCATCCGCCCACCGAGCACTTGGGACCCGCTGCACATATCCAGAGCAGGGAAAGCTGTGGCTTTCTCGGGGGAGCGAGTGTCTAGGGGAAGGGTGTGGCAGGCCCACGGGATGCCATGCCCTAGAACAACGGCCTGAGCGCTTGTGGAATTAAAATGGGAGATGTGGGGCCGAGGTGGGCGAATTGGGATCCCTCCAGGTCAGGGGTTCGAGACCATCCTGGGCAACAAAGCGAGACCCTCCCCCATGCCACGTTTCTACAAAAAATAAAA... | GCCCAGCTTGGGGGAAGGAGAGCGGCGCTTATCGAAGTGTGGTCGACCTCCATCCGCCCACCGAGCACTTGGGACCCGCTGCACATATCCAGAGCAGGGAAAGCTGTGGCTTTCTCGGGGGAGCGAGTGTCTAGGGGAAGGGTGTGGCAGGCCCACGGGATGCCATGCCCTAGAACAACGGCCTGAGCGCTTGTGGAATTAAAATGGGAGATGTGGGGCCGAGGTGGGCGAATTGGGATCCCTCCAGGTCAGGGGTTCGAGACCATCCTGGGCAACAAAGCGAGACCCTCCCCCATGCCACGTTTCTACAAAAAATAAAA... |
Task1_train_10088 | Gene TUBB (tubulin beta class I) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Multiple benign circumferential skin creases on limbs 1 | CAGCTTGGGGGAAGGAGAGCGGCGCTTATCGAAGTGTGGTCGACCTCCATCCGCCCACCGAGCACTTGGGACCCGCTGCACATATCCAGAGCAGGGAAAGCTGTGGCTTTCTCGGGGGAGCGAGTGTCTAGGGGAAGGGTGTGGCAGGCCCACGGGATGCCATGCCCTAGAACAACGGCCTGAGCGCTTGTGGAATTAAAATGGGAGATGTGGGGCCGAGGTGGGCGAATTGGGATCCCTCCAGGTCAGGGGTTCGAGACCATCCTGGGCAACAAAGCGAGACCCTCCCCCATGCCACGTTTCTACAAAAAATAAAAGTA... | CAGCTTGGGGGAAGGAGAGCGGCGCTTATCGAAGTGTGGTCGACCTCCATCCGCCCACCGAGCACTTGGGACCCGCTGCACATATCCAGAGCAGGGAAAGCTGTGGCTTTCTCGGGGGAGCGAGTGTCTAGGGGAAGGGTGTGGCAGGCCCACGGGATGCCATGCCCTAGAACAACGGCCTGAGCGCTTGTGGAATTAAAATGGGAGATGTGGGGCCGAGGTGGGCGAATTGGGATCCCTCCAGGTCAGGGGTTCGAGACCATCCTGGGCAACAAAGCGAGACCCTCCCCCATGCCACGTTTCTACAAAAAATAAAAGTA... |
Task1_train_10089 | Consider this mutation in TUBB (tubulin beta class I) on Chromosome 6. Is this a benign change or a disease-causing variant? | Pathogenic; Inborn genetic diseases | TGGGATCCCTCCAGGTCAGGGGTTCGAGACCATCCTGGGCAACAAAGCGAGACCCTCCCCCATGCCACGTTTCTACAAAAAATAAAAGTAAAAAATTAGCTGGGCGTGGTGGCGCGCGTCTGTGGTCCCAGCTACTCGAGAGGCTGAGATGGGAGGATCGGTTGAGCCTGGGAGTTCCACGCTGTAGTCATCCGTGATTGCACCACTGCACTGCAGGCTGGGCAACAGGAAGACCCTGTCTTAAAAATTAGAAGAAGCTGGGCGCGGTGGCTCACCCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACG... | TGGGATCCCTCCAGGTCAGGGGTTCGAGACCATCCTGGGCAACAAAGCGAGACCCTCCCCCATGCCACGTTTCTACAAAAAATAAAAGTAAAAAATTAGCTGGGCGTGGTGGCGCGCGTCTGTGGTCCCAGCTACTCGAGAGGCTGAGATGGGAGGATCGGTTGAGCCTGGGAGTTCCACGCTGTAGTCATCCGTGATTGCACCACTGCACTGCAGGCTGGGCAACAGGAAGACCCTGTCTTAAAAATTAGAAGAAGCTGGGCGCGGTGGCTCACCCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACG... |
Task1_train_10090 | Here is a variant affecting TUBB (tubulin beta class I) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Complex cortical dysplasia with other brain malformations 6 | TGGGATCCCTCCAGGTCAGGGGTTCGAGACCATCCTGGGCAACAAAGCGAGACCCTCCCCCATGCCACGTTTCTACAAAAAATAAAAGTAAAAAATTAGCTGGGCGTGGTGGCGCGCGTCTGTGGTCCCAGCTACTCGAGAGGCTGAGATGGGAGGATCGGTTGAGCCTGGGAGTTCCACGCTGTAGTCATCCGTGATTGCACCACTGCACTGCAGGCTGGGCAACAGGAAGACCCTGTCTTAAAAATTAGAAGAAGCTGGGCGCGGTGGCTCACCCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACG... | TGGGATCCCTCCAGGTCAGGGGTTCGAGACCATCCTGGGCAACAAAGCGAGACCCTCCCCCATGCCACGTTTCTACAAAAAATAAAAGTAAAAAATTAGCTGGGCGTGGTGGCGCGCGTCTGTGGTCCCAGCTACTCGAGAGGCTGAGATGGGAGGATCGGTTGAGCCTGGGAGTTCCACGCTGTAGTCATCCGTGATTGCACCACTGCACTGCAGGCTGGGCAACAGGAAGACCCTGTCTTAAAAATTAGAAGAAGCTGGGCGCGGTGGCTCACCCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACG... |
Task1_train_10091 | A sequence alteration has been identified in TUBB (tubulin beta class I) on Chromosome 6. Is it disease-inducing or harmless? | Pathogenic; Abnormal brain morphology | ACGTTTCTACAAAAAATAAAAGTAAAAAATTAGCTGGGCGTGGTGGCGCGCGTCTGTGGTCCCAGCTACTCGAGAGGCTGAGATGGGAGGATCGGTTGAGCCTGGGAGTTCCACGCTGTAGTCATCCGTGATTGCACCACTGCACTGCAGGCTGGGCAACAGGAAGACCCTGTCTTAAAAATTAGAAGAAGCTGGGCGCGGTGGCTCACCCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAAGAGATCTAGACCATCCTGGCCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAG... | ACGTTTCTACAAAAAATAAAAGTAAAAAATTAGCTGGGCGTGGTGGCGCGCGTCTGTGGTCCCAGCTACTCGAGAGGCTGAGATGGGAGGATCGGTTGAGCCTGGGAGTTCCACGCTGTAGTCATCCGTGATTGCACCACTGCACTGCAGGCTGGGCAACAGGAAGACCCTGTCTTAAAAATTAGAAGAAGCTGGGCGCGGTGGCTCACCCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAAGAGATCTAGACCATCCTGGCCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAG... |
Task1_train_10092 | The gene TUBB (tubulin beta class I), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Complex cortical dysplasia with other brain malformations 6 | ACGTTTCTACAAAAAATAAAAGTAAAAAATTAGCTGGGCGTGGTGGCGCGCGTCTGTGGTCCCAGCTACTCGAGAGGCTGAGATGGGAGGATCGGTTGAGCCTGGGAGTTCCACGCTGTAGTCATCCGTGATTGCACCACTGCACTGCAGGCTGGGCAACAGGAAGACCCTGTCTTAAAAATTAGAAGAAGCTGGGCGCGGTGGCTCACCCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAAGAGATCTAGACCATCCTGGCCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAG... | ACGTTTCTACAAAAAATAAAAGTAAAAAATTAGCTGGGCGTGGTGGCGCGCGTCTGTGGTCCCAGCTACTCGAGAGGCTGAGATGGGAGGATCGGTTGAGCCTGGGAGTTCCACGCTGTAGTCATCCGTGATTGCACCACTGCACTGCAGGCTGGGCAACAGGAAGACCCTGTCTTAAAAATTAGAAGAAGCTGGGCGCGGTGGCTCACCCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAAGAGATCTAGACCATCCTGGCCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAG... |
Task1_train_10093 | A sequence alteration has been identified in TUBB (tubulin beta class I) on Chromosome 6. Is it disease-inducing or harmless? | Pathogenic; Multiple benign circumferential skin creases on limbs 1 | TGAGCCTGGGAGTTCCACGCTGTAGTCATCCGTGATTGCACCACTGCACTGCAGGCTGGGCAACAGGAAGACCCTGTCTTAAAAATTAGAAGAAGCTGGGCGCGGTGGCTCACCCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAAGAGATCTAGACCATCCTGGCCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGTTGGTGCGCGCCTATAGTCCCAGCTACTCCGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGCAGAGGTTGCAGTGAGC... | TGAGCCTGGGAGTTCCACGCTGTAGTCATCCGTGATTGCACCACTGCACTGCAGGCTGGGCAACAGGAAGACCCTGTCTTAAAAATTAGAAGAAGCTGGGCGCGGTGGCTCACCCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAAGAGATCTAGACCATCCTGGCCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGTTGGTGCGCGCCTATAGTCCCAGCTACTCCGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGCAGAGGTTGCAGTGAGC... |
Task1_train_10094 | A variant has been detected on Chromosome 6 in TUBB (tubulin beta class I). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Complex cortical dysplasia with other brain malformations 6 | TGAGCCTGGGAGTTCCACGCTGTAGTCATCCGTGATTGCACCACTGCACTGCAGGCTGGGCAACAGGAAGACCCTGTCTTAAAAATTAGAAGAAGCTGGGCGCGGTGGCTCACCCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAAGAGATCTAGACCATCCTGGCCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGTTGGTGCGCGCCTATAGTCCCAGCTACTCCGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGCAGAGGTTGCAGTGAGC... | TGAGCCTGGGAGTTCCACGCTGTAGTCATCCGTGATTGCACCACTGCACTGCAGGCTGGGCAACAGGAAGACCCTGTCTTAAAAATTAGAAGAAGCTGGGCGCGGTGGCTCACCCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAAGAGATCTAGACCATCCTGGCCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGTTGGTGCGCGCCTATAGTCCCAGCTACTCCGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGCAGAGGTTGCAGTGAGC... |
Task1_train_10095 | Assess the clinical impact of this variant on gene TUBB (tubulin beta class I), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Inborn genetic diseases | GTGGGCGGATCACGAGGTCAAGAGATCTAGACCATCCTGGCCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGTTGGTGCGCGCCTATAGTCCCAGCTACTCCGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGCAGAGGTTGCAGTGAGCCGAGATAGCGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAATTAAGAAAAAGATGAAATAAAATGGTAGTTGGGGACATAGTTGGCTGGGACTTGACCTGTTGTGGTCTCGTTGCTCCCCCTCGGC... | GTGGGCGGATCACGAGGTCAAGAGATCTAGACCATCCTGGCCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGTTGGTGCGCGCCTATAGTCCCAGCTACTCCGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGCAGAGGTTGCAGTGAGCCGAGATAGCGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAATTAAGAAAAAGATGAAATAAAATGGTAGTTGGGGACATAGTTGGCTGGGACTTGACCTGTTGTGGTCTCGTTGCTCCCCCTCGGC... |
Task1_train_10096 | This alteration in TUBB (tubulin beta class I) on Chromosome 6 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Multiple benign circumferential skin creases on limbs 1 | GTGGGCGGATCACGAGGTCAAGAGATCTAGACCATCCTGGCCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGTTGGTGCGCGCCTATAGTCCCAGCTACTCCGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGCAGAGGTTGCAGTGAGCCGAGATAGCGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAATTAAGAAAAAGATGAAATAAAATGGTAGTTGGGGACATAGTTGGCTGGGACTTGACCTGTTGTGGTCTCGTTGCTCCCCCTCGGC... | GTGGGCGGATCACGAGGTCAAGAGATCTAGACCATCCTGGCCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGTTGGTGCGCGCCTATAGTCCCAGCTACTCCGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGCAGAGGTTGCAGTGAGCCGAGATAGCGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAATTAAGAAAAAGATGAAATAAAATGGTAGTTGGGGACATAGTTGGCTGGGACTTGACCTGTTGTGGTCTCGTTGCTCCCCCTCGGC... |
Task1_train_10097 | A variant has been detected on Chromosome 6 in TUBB (tubulin beta class I). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Complex cortical dysplasia with other brain malformations 6 | GTGGGCGGATCACGAGGTCAAGAGATCTAGACCATCCTGGCCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGTTGGTGCGCGCCTATAGTCCCAGCTACTCCGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGCAGAGGTTGCAGTGAGCCGAGATAGCGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAATTAAGAAAAAGATGAAATAAAATGGTAGTTGGGGACATAGTTGGCTGGGACTTGACCTGTTGTGGTCTCGTTGCTCCCCCTCGGC... | GTGGGCGGATCACGAGGTCAAGAGATCTAGACCATCCTGGCCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGTTGGTGCGCGCCTATAGTCCCAGCTACTCCGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGCAGAGGTTGCAGTGAGCCGAGATAGCGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAATTAAGAAAAAGATGAAATAAAATGGTAGTTGGGGACATAGTTGGCTGGGACTTGACCTGTTGTGGTCTCGTTGCTCCCCCTCGGC... |
Task1_train_10098 | Mutation context: Chromosome 6, Gene TUBB (tubulin beta class I). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Complex cortical dysplasia with other brain malformations 6 | TCTACTAAAAATACAAAAAGTAGCTGGGCGTGTTGGTGCGCGCCTATAGTCCCAGCTACTCCGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGCAGAGGTTGCAGTGAGCCGAGATAGCGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAATTAAGAAAAAGATGAAATAAAATGGTAGTTGGGGACATAGTTGGCTGGGACTTGACCTGTTGTGGTCTCGTTGCTCCCCCTCGGCAGTTCTGGGAGGTGATCAGTGATGAACATGGCATCGACCCCACCGGCACCTACCACGGGG... | TCTACTAAAAATACAAAAAGTAGCTGGGCGTGTTGGTGCGCGCCTATAGTCCCAGCTACTCCGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGCAGAGGTTGCAGTGAGCCGAGATAGCGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAATTAAGAAAAAGATGAAATAAAATGGTAGTTGGGGACATAGTTGGCTGGGACTTGACCTGTTGTGGTCTCGTTGCTCCCCCTCGGCAGTTCTGGGAGGTGATCAGTGATGAACATGGCATCGACCCCACCGGCACCTACCACGGGG... |
Task1_train_10099 | The gene VARS2 (valyl-tRNA synthetase 2, mitochondrial), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Combined oxidative phosphorylation defect type 20 | CTTGGGAAGTGTTTGCTGACAAGGATCTCTCTGGGCACAGGAAAGGTGGAGAGATCTGTGAGCAGCTGCGAGCTCTGGGTGCCTCCCTGGACTGGGATCGAGAGTGTTTTACCATGGATGTTGTGAGTGTTCTGTGCCTTGGTCCCTGTGAGTGATGGGCGATGTTTAGGGATCTGTGTGGGGCAGGGAGGAAGCAATGCCTGGGTCCCTGAGCAGGGTGATGGGCTGAGAAGTGGCTCTTAGAGGTGGACACTCAGGTCATTCCAGGGCTCCTCAGTGGCTGTGACTGAAGCTTTTGTGCGGCTCTACAAGGCGGGGTT... | CTTGGGAAGTGTTTGCTGACAAGGATCTCTCTGGGCACAGGAAAGGTGGAGAGATCTGTGAGCAGCTGCGAGCTCTGGGTGCCTCCCTGGACTGGGATCGAGAGTGTTTTACCATGGATGTTGTGAGTGTTCTGTGCCTTGGTCCCTGTGAGTGATGGGCGATGTTTAGGGATCTGTGTGGGGCAGGGAGGAAGCAATGCCTGGGTCCCTGAGCAGGGTGATGGGCTGAGAAGTGGCTCTTAGAGGTGGACACTCAGGTCATTCCAGGGCTCCTCAGTGGCTGTGACTGAAGCTTTTGTGCGGCTCTACAAGGCGGGGTT... |
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