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_5100 | The following genetic variant occurs in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTTTTAAATTGATTCTACTATTTTGATTTTTATCACAAATCGATTAGAGAAAAACACTGTCACATAAAGATGAGCTAAGTCTTCATTATCTGTATTAGGGAGCTCCAGGCCCACTTGGGATTGCTGGGATCACTGGAGCACGGGGTCTTGCAGGACCACCAGGCATGCCAGGTCCTAGGGGAAGCCCTGGCCCTCAGGGTGTCAAGGTGAGTATAGTCATTTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGA... | TTTTTAAATTGATTCTACTATTTTGATTTTTATCACAAATCGATTAGAGAAAAACACTGTCACATAAAGATGAGCTAAGTCTTCATTATCTGTATTAGGGAGCTCCAGGCCCACTTGGGATTGCTGGGATCACTGGAGCACGGGGTCTTGCAGGACCACCAGGCATGCCAGGTCCTAGGGGAAGCCCTGGCCCTCAGGGTGTCAAGGTGAGTATAGTCATTTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGA... |
Task1_train_5101 | Here is a variant affecting COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Ehlers-Danlos syndrome, type 4 | ACGGGGTCTTGCAGGACCACCAGGCATGCCAGGTCCTAGGGGAAGCCCTGGCCCTCAGGGTGTCAAGGTGAGTATAGTCATTTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCA... | ACGGGGTCTTGCAGGACCACCAGGCATGCCAGGTCCTAGGGGAAGCCCTGGCCCTCAGGGTGTCAAGGTGAGTATAGTCATTTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCA... |
Task1_train_5102 | This alteration in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TGCAGGACCACCAGGCATGCCAGGTCCTAGGGGAAGCCCTGGCCCTCAGGGTGTCAAGGTGAGTATAGTCATTTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCAAACACCTCT... | TGCAGGACCACCAGGCATGCCAGGTCCTAGGGGAAGCCCTGGCCCTCAGGGTGTCAAGGTGAGTATAGTCATTTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCAAACACCTCT... |
Task1_train_5103 | Consider this mutation in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Ehlers-Danlos syndrome, type 4 | GCCAGGTCCTAGGGGAAGCCCTGGCCCTCAGGGTGTCAAGGTGAGTATAGTCATTTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCAAACACCTCTTTTAGGAAACTTGTGAAT... | GCCAGGTCCTAGGGGAAGCCCTGGCCCTCAGGGTGTCAAGGTGAGTATAGTCATTTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCAAACACCTCTTTTAGGAAACTTGTGAAT... |
Task1_train_5104 | A variant on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Ehlers-Danlos syndrome, type 4 | CCCTGGCCCTCAGGGTGTCAAGGTGAGTATAGTCATTTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCAAACACCTCTTTTAGGAAACTTGTGAATATTCTTCAATTTGTTGAC... | CCCTGGCCCTCAGGGTGTCAAGGTGAGTATAGTCATTTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCAAACACCTCTTTTAGGAAACTTGTGAATATTCTTCAATTTGTTGAC... |
Task1_train_5105 | A genomic change on Chromosome 2 affects COL3A1 (collagen type III alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TCAGGGTGTCAAGGTGAGTATAGTCATTTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCAAACACCTCTTTTAGGAAACTTGTGAATATTCTTCAATTTGTTGACTGTCAGTTT... | TCAGGGTGTCAAGGTGAGTATAGTCATTTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCAAACACCTCTTTTAGGAAACTTGTGAATATTCTTCAATTTGTTGACTGTCAGTTT... |
Task1_train_5106 | This sequence change occurs on Chromosome 2, altering COL3A1 (collagen type III alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TCAGGGTGTCAAGGTGAGTATAGTCATTTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCAAACACCTCTTTTAGGAAACTTGTGAATATTCTTCAATTTGTTGACTGTCAGTTT... | TCAGGGTGTCAAGGTGAGTATAGTCATTTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCAAACACCTCTTTTAGGAAACTTGTGAATATTCTTCAATTTGTTGACTGTCAGTTT... |
Task1_train_5107 | This variant impacts the gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TCAAGGTGAGTATAGTCATTTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCAAACACCTCTTTTAGGAAACTTGTGAATATTCTTCAATTTGTTGACTGTCAGTTTTGAAGGGG... | TCAAGGTGAGTATAGTCATTTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCAAACACCTCTTTTAGGAAACTTGTGAATATTCTTCAATTTGTTGACTGTCAGTTTTGAAGGGG... |
Task1_train_5108 | Here is a genetic alteration in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCAAACACCTCTTTTAGGAAACTTGTGAATATTCTTCAATTTGTTGACTGTCAGTTTTGAAGGGGGAAATAGTGTTAGCTTATA... | TTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCAAACACCTCTTTTAGGAAACTTGTGAATATTCTTCAATTTGTTGACTGTCAGTTTTGAAGGGGGAAATAGTGTTAGCTTATA... |
Task1_train_5109 | This variant affects the gene COL3A1 (collagen type III alpha 1 chain) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCAAACACCTCTTTTAGGAAACTTGTGAATATTCTTCAATTTGTTGACTGTCAGTTTTGAAGGGGGAAATAGTGTTAGCTTATAGATCTTGGAAAGTCTTTC... | TTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCAAACACCTCTTTTAGGAAACTTGTGAATATTCTTCAATTTGTTGACTGTCAGTTTTGAAGGGGGAAATAGTGTTAGCTTATAGATCTTGGAAAGTCTTTC... |
Task1_train_5110 | Consider a variant on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TCAACAAAATGTTATGTAATATTGTCATAAAATTAATATTTCATATTTAAGTGTGTTCAATTGATATGATATTTCTGGTAAGTGTATATTCTTCAGATAGAGACAAATAACCTAATTTTAAGGATCACCATACACCTCTAGTTTCATGATGGCTCATTATTGTTTTTCCCTATACTAATCATGTTTATGTATTCATCTCAGATTACAATGTACAGTATTCTGAATTAGATAATCAATGTAACTATTCAGCCCTTTGCCATCCAGAGTCACTGAGCAAGTTAGAAAATGCAAGAAGCTTGCTCCCCCATATTTTTTCCCAT... | TCAACAAAATGTTATGTAATATTGTCATAAAATTAATATTTCATATTTAAGTGTGTTCAATTGATATGATATTTCTGGTAAGTGTATATTCTTCAGATAGAGACAAATAACCTAATTTTAAGGATCACCATACACCTCTAGTTTCATGATGGCTCATTATTGTTTTTCCCTATACTAATCATGTTTATGTATTCATCTCAGATTACAATGTACAGTATTCTGAATTAGATAATCAATGTAACTATTCAGCCCTTTGCCATCCAGAGTCACTGAGCAAGTTAGAAAATGCAAGAAGCTTGCTCCCCCATATTTTTTCCCAT... |
Task1_train_5111 | Given this context: Chromosome 2, gene COL3A1 (collagen type III alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Ehlers-Danlos syndrome, type 4 | AATATTGTCATAAAATTAATATTTCATATTTAAGTGTGTTCAATTGATATGATATTTCTGGTAAGTGTATATTCTTCAGATAGAGACAAATAACCTAATTTTAAGGATCACCATACACCTCTAGTTTCATGATGGCTCATTATTGTTTTTCCCTATACTAATCATGTTTATGTATTCATCTCAGATTACAATGTACAGTATTCTGAATTAGATAATCAATGTAACTATTCAGCCCTTTGCCATCCAGAGTCACTGAGCAAGTTAGAAAATGCAAGAAGCTTGCTCCCCCATATTTTTTCCCATAGCAGGCATAGTTTTAA... | AATATTGTCATAAAATTAATATTTCATATTTAAGTGTGTTCAATTGATATGATATTTCTGGTAAGTGTATATTCTTCAGATAGAGACAAATAACCTAATTTTAAGGATCACCATACACCTCTAGTTTCATGATGGCTCATTATTGTTTTTCCCTATACTAATCATGTTTATGTATTCATCTCAGATTACAATGTACAGTATTCTGAATTAGATAATCAATGTAACTATTCAGCCCTTTGCCATCCAGAGTCACTGAGCAAGTTAGAAAATGCAAGAAGCTTGCTCCCCCATATTTTTTCCCATAGCAGGCATAGTTTTAA... |
Task1_train_5112 | Gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TAAAATTAATATTTCATATTTAAGTGTGTTCAATTGATATGATATTTCTGGTAAGTGTATATTCTTCAGATAGAGACAAATAACCTAATTTTAAGGATCACCATACACCTCTAGTTTCATGATGGCTCATTATTGTTTTTCCCTATACTAATCATGTTTATGTATTCATCTCAGATTACAATGTACAGTATTCTGAATTAGATAATCAATGTAACTATTCAGCCCTTTGCCATCCAGAGTCACTGAGCAAGTTAGAAAATGCAAGAAGCTTGCTCCCCCATATTTTTTCCCATAGCAGGCATAGTTTTAATTTTAAAATT... | TAAAATTAATATTTCATATTTAAGTGTGTTCAATTGATATGATATTTCTGGTAAGTGTATATTCTTCAGATAGAGACAAATAACCTAATTTTAAGGATCACCATACACCTCTAGTTTCATGATGGCTCATTATTGTTTTTCCCTATACTAATCATGTTTATGTATTCATCTCAGATTACAATGTACAGTATTCTGAATTAGATAATCAATGTAACTATTCAGCCCTTTGCCATCCAGAGTCACTGAGCAAGTTAGAAAATGCAAGAAGCTTGCTCCCCCATATTTTTTCCCATAGCAGGCATAGTTTTAATTTTAAAATT... |
Task1_train_5113 | This sequence variant lies in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TATTTCATATTTAAGTGTGTTCAATTGATATGATATTTCTGGTAAGTGTATATTCTTCAGATAGAGACAAATAACCTAATTTTAAGGATCACCATACACCTCTAGTTTCATGATGGCTCATTATTGTTTTTCCCTATACTAATCATGTTTATGTATTCATCTCAGATTACAATGTACAGTATTCTGAATTAGATAATCAATGTAACTATTCAGCCCTTTGCCATCCAGAGTCACTGAGCAAGTTAGAAAATGCAAGAAGCTTGCTCCCCCATATTTTTTCCCATAGCAGGCATAGTTTTAATTTTAAAATTCAATGAAGA... | TATTTCATATTTAAGTGTGTTCAATTGATATGATATTTCTGGTAAGTGTATATTCTTCAGATAGAGACAAATAACCTAATTTTAAGGATCACCATACACCTCTAGTTTCATGATGGCTCATTATTGTTTTTCCCTATACTAATCATGTTTATGTATTCATCTCAGATTACAATGTACAGTATTCTGAATTAGATAATCAATGTAACTATTCAGCCCTTTGCCATCCAGAGTCACTGAGCAAGTTAGAAAATGCAAGAAGCTTGCTCCCCCATATTTTTTCCCATAGCAGGCATAGTTTTAATTTTAAAATTCAATGAAGA... |
Task1_train_5114 | A variant affecting Chromosome 2, within the gene COL3A1 (collagen type III alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Ehlers-Danlos syndrome, type 4 | GAGATGTGAGTAGCAGTTTTTATTCAACCAGCCAGGTAGAATTTGATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTT... | GAGATGTGAGTAGCAGTTTTTATTCAACCAGCCAGGTAGAATTTGATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTT... |
Task1_train_5115 | Chromosome 2 houses a mutation in gene COL3A1 (collagen type III alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Ehlers-Danlos syndrome, type 4 | GTAGCAGTTTTTATTCAACCAGCCAGGTAGAATTTGATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTT... | GTAGCAGTTTTTATTCAACCAGCCAGGTAGAATTTGATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTT... |
Task1_train_5116 | The variant affects gene COL3A1 (collagen type III alpha 1 chain), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTTTATTCAACCAGCCAGGTAGAATTTGATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTTTAAAGAAT... | TTTTATTCAACCAGCCAGGTAGAATTTGATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTTTAAAGAAT... |
Task1_train_5117 | Gene COL3A1 (collagen type III alpha 1 chain), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTTATTCAACCAGCCAGGTAGAATTTGATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTTTAAAGAATT... | TTTATTCAACCAGCCAGGTAGAATTTGATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTTTAAAGAATT... |
Task1_train_5118 | A sequence alteration has been identified in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Ehlers-Danlos syndrome, type 4 | CCAGCCAGGTAGAATTTGATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTTTAAAGAATTTAAAATTAA... | CCAGCCAGGTAGAATTTGATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTTTAAAGAATTTAAAATTAA... |
Task1_train_5119 | Gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TAGAATTTGATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTTTAAAGAATTTAAAATTAATATTATTTA... | TAGAATTTGATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTTTAAAGAATTTAAAATTAATATTATTTA... |
Task1_train_5120 | Chromosome 2 houses a mutation in gene COL3A1 (collagen type III alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Ehlers-Danlos syndrome, type 4 | GATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTTTAAAGAATTTAAAATTAATATTATTTATAATTAAC... | GATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTTTAAAGAATTTAAAATTAATATTATTTATAATTAAC... |
Task1_train_5121 | With a mutation on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ehlers-Danlos syndrome, type 4 | ATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTTTAAAGAATTTAAAATTAATATTATTTATAATTAACA... | ATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTTTAAAGAATTTAAAATTAATATTATTTATAATTAACA... |
Task1_train_5122 | Here’s a variant in COL3A1 (collagen type III alpha 1 chain) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | GTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTTTAAAGAATTTAAAATTAATATTATTTATAATTAACAAATCATAATTGTATACATTTATAAGGTACAATGTGATGTTTTAAT... | GTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTTTAAAGAATTTAAAATTAATATTATTTATAATTAACAAATCATAATTGTATACATTTATAAGGTACAATGTGATGTTTTAAT... |
Task1_train_5123 | A variant has been detected on Chromosome 2 in COL3A1 (collagen type III alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Ehlers-Danlos syndrome, type 4 | GATTAAAGCAAACTAATTAAACTGTAGATTTCCACTAACAGTTTAGATCACTATTTCTTAAACTTTTATTTATTAGAGGTCTGTAAAGACTCTTTTTGGATATCATTTTTCTAATCACCTCTCCTCCATGAATACACTAACTATCTGTCTGGACATTGTGACCCTTTGAAGGGCCACACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAAT... | GATTAAAGCAAACTAATTAAACTGTAGATTTCCACTAACAGTTTAGATCACTATTTCTTAAACTTTTATTTATTAGAGGTCTGTAAAGACTCTTTTTGGATATCATTTTTCTAATCACCTCTCCTCCATGAATACACTAACTATCTGTCTGGACATTGTGACCCTTTGAAGGGCCACACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAAT... |
Task1_train_5124 | A variant found in Chromosome 2 affects COL3A1 (collagen type III alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTTTTCTAATCACCTCTCCTCCATGAATACACTAACTATCTGTCTGGACATTGTGACCCTTTGAAGGGCCACACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGAT... | TTTTTCTAATCACCTCTCCTCCATGAATACACTAACTATCTGTCTGGACATTGTGACCCTTTGAAGGGCCACACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGAT... |
Task1_train_5125 | This sequence variant lies in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Ehlers-Danlos syndrome, type 4 | GACCCTTTGAAGGGCCACACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAA... | GACCCTTTGAAGGGCCACACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAA... |
Task1_train_5126 | A change on Chromosome 2 affects gene COL3A1 (collagen type III alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, type 4 | AAGGGCCACACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCC... | AAGGGCCACACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCC... |
Task1_train_5127 | Here is a mutation in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome, type 4 | CACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCC... | CACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCC... |
Task1_train_5128 | This variant impacts the gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Ehlers-Danlos syndrome, type 4 | CACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCC... | CACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCC... |
Task1_train_5129 | Chromosome 2 houses a mutation in gene COL3A1 (collagen type III alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Ehlers-Danlos syndrome, type 4 | CACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCC... | CACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCC... |
Task1_train_5130 | A variant on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Ehlers-Danlos syndrome, type 4 | ACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCC... | ACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCC... |
Task1_train_5131 | Consider a variant on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; not provided | GTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTC... | GTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTC... |
Task1_train_5132 | The gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCC... | TAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCC... |
Task1_train_5133 | The gene COL3A1 (collagen type III alpha 1 chain) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Ehlers-Danlos syndrome, type 4 | AGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTCATCC... | AGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTCATCC... |
Task1_train_5134 | This alteration in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Ehlers-Danlos syndrome, type 4 | AGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTCATCC... | AGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTCATCC... |
Task1_train_5135 | This variant affects the gene COL3A1 (collagen type III alpha 1 chain) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, type 4 | TACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTCATCCAGGCCCAC... | TACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTCATCCAGGCCCAC... |
Task1_train_5136 | Here’s a variant in COL3A1 (collagen type III alpha 1 chain) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Ehlers-Danlos syndrome, type 4 | ACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTCATCCAGGCCCACC... | ACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTCATCCAGGCCCACC... |
Task1_train_5137 | This gene mutation involves COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TGTGTCAACACATAAAACTAGTTCCGTGTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGAT... | TGTGTCAACACATAAAACTAGTTCCGTGTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGAT... |
Task1_train_5138 | Chromosome 2 houses a mutation in gene COL3A1 (collagen type III alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | TGTGTCAACACATAAAACTAGTTCCGTGTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGAT... | TGTGTCAACACATAAAACTAGTTCCGTGTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGAT... |
Task1_train_5139 | Here’s a variant in COL3A1 (collagen type III alpha 1 chain) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Ehlers-Danlos syndrome, type 4 | CACATAAAACTAGTTCCGTGTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT... | CACATAAAACTAGTTCCGTGTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT... |
Task1_train_5140 | Here is a mutation in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome, type 4 | CTAGTTCCGTGTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAC... | CTAGTTCCGTGTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAC... |
Task1_train_5141 | A genetic alteration is present in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | CTAGTTCCGTGTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAC... | CTAGTTCCGTGTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAC... |
Task1_train_5142 | A mutation on Chromosome 2 affecting COL3A1 (collagen type III alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TAGTTCCGTGTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAACA... | TAGTTCCGTGTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAACA... |
Task1_train_5143 | The gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TAGTTCCGTGTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAACA... | TAGTTCCGTGTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAACA... |
Task1_train_5144 | This genomic variant is located on Chromosome 2, within the COL3A1 (collagen type III alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Ehlers-Danlos syndrome, type 4 | GTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAACAAATATAAAC... | GTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAACAAATATAAAC... |
Task1_train_5145 | A variant found in Chromosome 2 affects COL3A1 (collagen type III alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAACAAATATAAACTTTCCTTT... | TCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAACAAATATAAACTTTCCTTT... |
Task1_train_5146 | A mutation found in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Ehlers-Danlos syndrome, type 4 | CTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAACAAATATAAACTTTCCTTTA... | CTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAACAAATATAAACTTTCCTTTA... |
Task1_train_5147 | A genetic alteration is present in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Ehlers-Danlos syndrome, type 4 | ATTTAATTTGCTACAATCTTCCAATTTTCAGAAACACAGCGCATTATGTTTAAATTGAAATAGAGAGACGCAATGCATCCACTCAATTTAGAAACTGAACAATGACTTTAAGACATTCTCCATCACATTAAAAATGTTTCTACCACACTATAACAGGAGAAAAATACCTTTTTAAAAATTTGATCAGGTATCCATCGTATCAGAATAATGACATCTGCCCAATTAACCAAATAAACCCTGTCCACATTGCTATCCCACTAGAGATCTCAGAATTACAACATTCATAATTATCTGCGTTTATGTAGTGCATTTTACTTCTC... | ATTTAATTTGCTACAATCTTCCAATTTTCAGAAACACAGCGCATTATGTTTAAATTGAAATAGAGAGACGCAATGCATCCACTCAATTTAGAAACTGAACAATGACTTTAAGACATTCTCCATCACATTAAAAATGTTTCTACCACACTATAACAGGAGAAAAATACCTTTTTAAAAATTTGATCAGGTATCCATCGTATCAGAATAATGACATCTGCCCAATTAACCAAATAAACCCTGTCCACATTGCTATCCCACTAGAGATCTCAGAATTACAACATTCATAATTATCTGCGTTTATGTAGTGCATTTTACTTCTC... |
Task1_train_5148 | This alteration in COL5A2 (collagen type V alpha 2 chain) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Ehlers-Danlos syndrome, classic type, 2 | AAGCCAAGATAGTGAGTCCAGCTGGCAAATAAAAATGCCTAGTTGAGTTTTCATTCATATAAACAACAATAACTTTTAGCATAAGTTTTTCCCATGCAATATTTGAGGCATACTTATACTAAACATGTATTCTTTGCTCATCTGAAATTCAAACTTAACTTGGTTTCTGTATTTTATCTGGCTTATTATGTACCTATGTGGATCTAATCCTAAAGAGGCCTGGAAAACTAAAATTCTAAGCCTTAGGAATCTCATCAGTATCAGTAAAGCATATTGAATCTCTGTTTCACTTCATTGAAATGCAAAGAACTGGATTTGGA... | AAGCCAAGATAGTGAGTCCAGCTGGCAAATAAAAATGCCTAGTTGAGTTTTCATTCATATAAACAACAATAACTTTTAGCATAAGTTTTTCCCATGCAATATTTGAGGCATACTTATACTAAACATGTATTCTTTGCTCATCTGAAATTCAAACTTAACTTGGTTTCTGTATTTTATCTGGCTTATTATGTACCTATGTGGATCTAATCCTAAAGAGGCCTGGAAAACTAAAATTCTAAGCCTTAGGAATCTCATCAGTATCAGTAAAGCATATTGAATCTCTGTTTCACTTCATTGAAATGCAAAGAACTGGATTTGGA... |
Task1_train_5149 | This alteration occurs within gene COL5A2 (collagen type V alpha 2 chain) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | GAGTAAGACCCTGTCCTCAAAATTTAAAGGAAAAAAAAGAAATTTAAAATCTCAGGTCCATCTAAAGTCACTTGGCCTAGAGAAGTGGCCCATTCCCCCCATTAATAGTTGGTAGTTCTCTCTTGTTGAAGATGATACCTAAGCCTCTAATTTGGAAGACAACTTAAGCCTCACTTCTGGACACCACACCAATAACTAACACTACTCCTGATTTTTTAAAAAGATATCATACACCAAAGCACCTATAAGACCTAAACATCGGGTAGAGGCGGGATCTGAGAAAGAATGTATGGGTCTTGGTCCTGAAGATACTGTATCAA... | GAGTAAGACCCTGTCCTCAAAATTTAAAGGAAAAAAAAGAAATTTAAAATCTCAGGTCCATCTAAAGTCACTTGGCCTAGAGAAGTGGCCCATTCCCCCCATTAATAGTTGGTAGTTCTCTCTTGTTGAAGATGATACCTAAGCCTCTAATTTGGAAGACAACTTAAGCCTCACTTCTGGACACCACACCAATAACTAACACTACTCCTGATTTTTTAAAAAGATATCATACACCAAAGCACCTATAAGACCTAAACATCGGGTAGAGGCGGGATCTGAGAAAGAATGTATGGGTCTTGGTCCTGAAGATACTGTATCAA... |
Task1_train_5150 | This variant lies on Chromosome 2 and affects the gene SLC40A1 (solute carrier family 40 member 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hemochromatosis type 4 | AACCTAACAGAGGCATCTAGTTTGCACAAACATCATGAACAGATCAGTAGCTGCAGGGCGATGCCAAATGCTCTCAAGTTCTCAATTTTAGGAGAAAGGAAAGGAGGCTCTGATCAACTATGTCTGAGTCCAGTCTGAATCCCTAGGACTGATAACAGTTTAGATCAAGTCCCCAATAAATGTTTCCTTTATGCAGAATGTGGCTCTACTCTCTCTAGAGGCAGCAGACATCTCTCCTCAGCTCCCCGTCATTACTAAGGTCCAACCTCTAGTAAAAATGCTGCCTTGTCTTGTAGTTCACTAAGTAATTCCACATGGCT... | AACCTAACAGAGGCATCTAGTTTGCACAAACATCATGAACAGATCAGTAGCTGCAGGGCGATGCCAAATGCTCTCAAGTTCTCAATTTTAGGAGAAAGGAAAGGAGGCTCTGATCAACTATGTCTGAGTCCAGTCTGAATCCCTAGGACTGATAACAGTTTAGATCAAGTCCCCAATAAATGTTTCCTTTATGCAGAATGTGGCTCTACTCTCTCTAGAGGCAGCAGACATCTCTCCTCAGCTCCCCGTCATTACTAAGGTCCAACCTCTAGTAAAAATGCTGCCTTGTCTTGTAGTTCACTAAGTAATTCCACATGGCT... |
Task1_train_5151 | This sequence variant lies in SLC40A1 (solute carrier family 40 member 1) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hemochromatosis type 4 | GATCAACTATGTCTGAGTCCAGTCTGAATCCCTAGGACTGATAACAGTTTAGATCAAGTCCCCAATAAATGTTTCCTTTATGCAGAATGTGGCTCTACTCTCTCTAGAGGCAGCAGACATCTCTCCTCAGCTCCCCGTCATTACTAAGGTCCAACCTCTAGTAAAAATGCTGCCTTGTCTTGTAGTTCACTAAGTAATTCCACATGGCTTCTCTTATTTCATTCAACCAGGAAAGTTGAAAGGTAGGTAGGGTTGTTTTTACTATCATTTCCAATTTACAGAAGGGAAAATAGAAGTGAGAACTTAAAAGTGCTTAGTGT... | GATCAACTATGTCTGAGTCCAGTCTGAATCCCTAGGACTGATAACAGTTTAGATCAAGTCCCCAATAAATGTTTCCTTTATGCAGAATGTGGCTCTACTCTCTCTAGAGGCAGCAGACATCTCTCCTCAGCTCCCCGTCATTACTAAGGTCCAACCTCTAGTAAAAATGCTGCCTTGTCTTGTAGTTCACTAAGTAATTCCACATGGCTTCTCTTATTTCATTCAACCAGGAAAGTTGAAAGGTAGGTAGGGTTGTTTTTACTATCATTTCCAATTTACAGAAGGGAAAATAGAAGTGAGAACTTAAAAGTGCTTAGTGT... |
Task1_train_5152 | Mutation context: Chromosome 2, Gene SLC40A1 (solute carrier family 40 member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hemochromatosis type 4 | CTGAGTCCAGTCTGAATCCCTAGGACTGATAACAGTTTAGATCAAGTCCCCAATAAATGTTTCCTTTATGCAGAATGTGGCTCTACTCTCTCTAGAGGCAGCAGACATCTCTCCTCAGCTCCCCGTCATTACTAAGGTCCAACCTCTAGTAAAAATGCTGCCTTGTCTTGTAGTTCACTAAGTAATTCCACATGGCTTCTCTTATTTCATTCAACCAGGAAAGTTGAAAGGTAGGTAGGGTTGTTTTTACTATCATTTCCAATTTACAGAAGGGAAAATAGAAGTGAGAACTTAAAAGTGCTTAGTGTGACATATTCAAA... | CTGAGTCCAGTCTGAATCCCTAGGACTGATAACAGTTTAGATCAAGTCCCCAATAAATGTTTCCTTTATGCAGAATGTGGCTCTACTCTCTCTAGAGGCAGCAGACATCTCTCCTCAGCTCCCCGTCATTACTAAGGTCCAACCTCTAGTAAAAATGCTGCCTTGTCTTGTAGTTCACTAAGTAATTCCACATGGCTTCTCTTATTTCATTCAACCAGGAAAGTTGAAAGGTAGGTAGGGTTGTTTTTACTATCATTTCCAATTTACAGAAGGGAAAATAGAAGTGAGAACTTAAAAGTGCTTAGTGTGACATATTCAAA... |
Task1_train_5153 | With a mutation on Chromosome 2 in gene SLC40A1 (solute carrier family 40 member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hemochromatosis type 4 | ATGTATTTGCTTGATTTTCCTTCCTAACTTCTTTTGCATCAGGACCGCAAGCAAAGAGCTTGTTTCCCAGAGTATTTTGGGCAAATCGGAAATACATAATGTGGCCCATTGCCACAAAGGAGACTGAAATCAATACGAGCAAGCCAAAAGCTTCAGGATTTGGAGCCAGGATGACCATGATGAAATGCAGAAGATCAAGAAGATAGTTCATGGAGTTCTGTACACCATTTATAATGCCTCTTTCAGATTCAATTACATTTTCTTGCAGCAACTGTGTCACAGTTAAATCAAAGGACCAAAGACCTATAATAAAATATTTT... | ATGTATTTGCTTGATTTTCCTTCCTAACTTCTTTTGCATCAGGACCGCAAGCAAAGAGCTTGTTTCCCAGAGTATTTTGGGCAAATCGGAAATACATAATGTGGCCCATTGCCACAAAGGAGACTGAAATCAATACGAGCAAGCCAAAAGCTTCAGGATTTGGAGCCAGGATGACCATGATGAAATGCAGAAGATCAAGAAGATAGTTCATGGAGTTCTGTACACCATTTATAATGCCTCTTTCAGATTCAATTACATTTTCTTGCAGCAACTGTGTCACAGTTAAATCAAAGGACCAAAGACCTATAATAAAATATTTT... |
Task1_train_5154 | Gene SLC40A1 (solute carrier family 40 member 1) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hemochromatosis type 4 | CAAATCGGAAATACATAATGTGGCCCATTGCCACAAAGGAGACTGAAATCAATACGAGCAAGCCAAAAGCTTCAGGATTTGGAGCCAGGATGACCATGATGAAATGCAGAAGATCAAGAAGATAGTTCATGGAGTTCTGTACACCATTTATAATGCCTCTTTCAGATTCAATTACATTTTCTTGCAGCAACTGTGTCACAGTTAAATCAAAGGACCAAAGACCTATAATAAAATATTTTTTTAAAGATTAGATTTTAGTTTACAGGCATACATTTCAAATCACAGATAAAAATCTGTTGACATATGCAAAATATACATTT... | CAAATCGGAAATACATAATGTGGCCCATTGCCACAAAGGAGACTGAAATCAATACGAGCAAGCCAAAAGCTTCAGGATTTGGAGCCAGGATGACCATGATGAAATGCAGAAGATCAAGAAGATAGTTCATGGAGTTCTGTACACCATTTATAATGCCTCTTTCAGATTCAATTACATTTTCTTGCAGCAACTGTGTCACAGTTAAATCAAAGGACCAAAGACCTATAATAAAATATTTTTTTAAAGATTAGATTTTAGTTTACAGGCATACATTTCAAATCACAGATAAAAATCTGTTGACATATGCAAAATATACATTT... |
Task1_train_5155 | The gene SLC40A1 (solute carrier family 40 member 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hemochromatosis type 4 | TTCTCTGAACCTACATTACAAAAAGACACTTTAGTTCATTAATATATAAAAAGAGATTTCTTACCGATTCTAGCAGCAATGACGCCTGCAAACAGCAGACTGACAGAGATTATGGGCACAGATTCAGGACTTGTCTCCGGGACAATATTAGCAGAATTAGACCCATTAGACATGTATATTTCAGTTGTAATTTCAGGTATCTTGGTAGGTGTAATTGACTCTCCTTGAATGAACCTTGATCGGATATCTTCAAAAGGAGAAACGGACAAGTCCAGGGGGCTTCCAGGCATGAATACAGAGATCACACACAAGATCAAACA... | TTCTCTGAACCTACATTACAAAAAGACACTTTAGTTCATTAATATATAAAAAGAGATTTCTTACCGATTCTAGCAGCAATGACGCCTGCAAACAGCAGACTGACAGAGATTATGGGCACAGATTCAGGACTTGTCTCCGGGACAATATTAGCAGAATTAGACCCATTAGACATGTATATTTCAGTTGTAATTTCAGGTATCTTGGTAGGTGTAATTGACTCTCCTTGAATGAACCTTGATCGGATATCTTCAAAAGGAGAAACGGACAAGTCCAGGGGGCTTCCAGGCATGAATACAGAGATCACACACAAGATCAAACA... |
Task1_train_5156 | This variant affects the gene SLC40A1 (solute carrier family 40 member 1) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hemochromatosis type 4 | CTCTGAACCTACATTACAAAAAGACACTTTAGTTCATTAATATATAAAAAGAGATTTCTTACCGATTCTAGCAGCAATGACGCCTGCAAACAGCAGACTGACAGAGATTATGGGCACAGATTCAGGACTTGTCTCCGGGACAATATTAGCAGAATTAGACCCATTAGACATGTATATTTCAGTTGTAATTTCAGGTATCTTGGTAGGTGTAATTGACTCTCCTTGAATGAACCTTGATCGGATATCTTCAAAAGGAGAAACGGACAAGTCCAGGGGGCTTCCAGGCATGAATACAGAGATCACACACAAGATCAAACAGG... | CTCTGAACCTACATTACAAAAAGACACTTTAGTTCATTAATATATAAAAAGAGATTTCTTACCGATTCTAGCAGCAATGACGCCTGCAAACAGCAGACTGACAGAGATTATGGGCACAGATTCAGGACTTGTCTCCGGGACAATATTAGCAGAATTAGACCCATTAGACATGTATATTTCAGTTGTAATTTCAGGTATCTTGGTAGGTGTAATTGACTCTCCTTGAATGAACCTTGATCGGATATCTTCAAAAGGAGAAACGGACAAGTCCAGGGGGCTTCCAGGCATGAATACAGAGATCACACACAAGATCAAACAGG... |
Task1_train_5157 | This variant impacts the gene SLC40A1 (solute carrier family 40 member 1) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hemochromatosis type 4 | CTGAACCTACATTACAAAAAGACACTTTAGTTCATTAATATATAAAAAGAGATTTCTTACCGATTCTAGCAGCAATGACGCCTGCAAACAGCAGACTGACAGAGATTATGGGCACAGATTCAGGACTTGTCTCCGGGACAATATTAGCAGAATTAGACCCATTAGACATGTATATTTCAGTTGTAATTTCAGGTATCTTGGTAGGTGTAATTGACTCTCCTTGAATGAACCTTGATCGGATATCTTCAAAAGGAGAAACGGACAAGTCCAGGGGGCTTCCAGGCATGAATACAGAGATCACACACAAGATCAAACAGGAA... | CTGAACCTACATTACAAAAAGACACTTTAGTTCATTAATATATAAAAAGAGATTTCTTACCGATTCTAGCAGCAATGACGCCTGCAAACAGCAGACTGACAGAGATTATGGGCACAGATTCAGGACTTGTCTCCGGGACAATATTAGCAGAATTAGACCCATTAGACATGTATATTTCAGTTGTAATTTCAGGTATCTTGGTAGGTGTAATTGACTCTCCTTGAATGAACCTTGATCGGATATCTTCAAAAGGAGAAACGGACAAGTCCAGGGGGCTTCCAGGCATGAATACAGAGATCACACACAAGATCAAACAGGAA... |
Task1_train_5158 | The gene SLC40A1 (solute carrier family 40 member 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hemochromatosis type 4 | TGAACCTACATTACAAAAAGACACTTTAGTTCATTAATATATAAAAAGAGATTTCTTACCGATTCTAGCAGCAATGACGCCTGCAAACAGCAGACTGACAGAGATTATGGGCACAGATTCAGGACTTGTCTCCGGGACAATATTAGCAGAATTAGACCCATTAGACATGTATATTTCAGTTGTAATTTCAGGTATCTTGGTAGGTGTAATTGACTCTCCTTGAATGAACCTTGATCGGATATCTTCAAAAGGAGAAACGGACAAGTCCAGGGGGCTTCCAGGCATGAATACAGAGATCACACACAAGATCAAACAGGAAA... | TGAACCTACATTACAAAAAGACACTTTAGTTCATTAATATATAAAAAGAGATTTCTTACCGATTCTAGCAGCAATGACGCCTGCAAACAGCAGACTGACAGAGATTATGGGCACAGATTCAGGACTTGTCTCCGGGACAATATTAGCAGAATTAGACCCATTAGACATGTATATTTCAGTTGTAATTTCAGGTATCTTGGTAGGTGTAATTGACTCTCCTTGAATGAACCTTGATCGGATATCTTCAAAAGGAGAAACGGACAAGTCCAGGGGGCTTCCAGGCATGAATACAGAGATCACACACAAGATCAAACAGGAAA... |
Task1_train_5159 | Here is a variant affecting SLC40A1 (solute carrier family 40 member 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hemochromatosis type 4 | AGAGCACCACTTACTAAAAGCTAATGTAGAGTGGACAAGAGTTCAACAAACATCTCACTTCCTTTCCTACTTGAAAAACATCAGAAAGTTAGAAAAAGACTGAATAGCCTAGATTCTTCCACTCTGCAATAATTCATAATATAAAGACAGACAGCTGAGAAACGACCAGTCATATTTTTGTTGTTATTCTTGGACATCACTTCATAGAAAAATCCCAGAGTTATGTGGCATGTTTGCAGTTATATTTATATGATGTGTGTATATATATGTATGTATATATATACACACCTATATATGTATGTATATATATATACACACCT... | AGAGCACCACTTACTAAAAGCTAATGTAGAGTGGACAAGAGTTCAACAAACATCTCACTTCCTTTCCTACTTGAAAAACATCAGAAAGTTAGAAAAAGACTGAATAGCCTAGATTCTTCCACTCTGCAATAATTCATAATATAAAGACAGACAGCTGAGAAACGACCAGTCATATTTTTGTTGTTATTCTTGGACATCACTTCATAGAAAAATCCCAGAGTTATGTGGCATGTTTGCAGTTATATTTATATGATGTGTGTATATATATGTATGTATATATATACACACCTATATATGTATGTATATATATATACACACCT... |
Task1_train_5160 | Here is a variant affecting SLC40A1 (solute carrier family 40 member 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hemochromatosis type 4 | ACATCTCACTTCCTTTCCTACTTGAAAAACATCAGAAAGTTAGAAAAAGACTGAATAGCCTAGATTCTTCCACTCTGCAATAATTCATAATATAAAGACAGACAGCTGAGAAACGACCAGTCATATTTTTGTTGTTATTCTTGGACATCACTTCATAGAAAAATCCCAGAGTTATGTGGCATGTTTGCAGTTATATTTATATGATGTGTGTATATATATGTATGTATATATATACACACCTATATATGTATGTATATATATATACACACCTATATATGTATGTATATATATATACACACACCTATATATGTATGTATATA... | ACATCTCACTTCCTTTCCTACTTGAAAAACATCAGAAAGTTAGAAAAAGACTGAATAGCCTAGATTCTTCCACTCTGCAATAATTCATAATATAAAGACAGACAGCTGAGAAACGACCAGTCATATTTTTGTTGTTATTCTTGGACATCACTTCATAGAAAAATCCCAGAGTTATGTGGCATGTTTGCAGTTATATTTATATGATGTGTGTATATATATGTATGTATATATATACACACCTATATATGTATGTATATATATATACACACCTATATATGTATGTATATATATATACACACACCTATATATGTATGTATATA... |
Task1_train_5161 | Located on Chromosome 2, this mutation impacts SLC40A1 (solute carrier family 40 member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hemochromatosis type 4 | ACCAGACCAGTAAATATGCAAACAAAATGATGAAGTACCACAAGTTTCTCTGTTCACTGAAGTCTATCATAATGACTACATTTTCATTTAGTTTATCTTCTTGAAAGTTTAACATAAATGGAGCTGTAGTATGATATAGACATGATCCACATTTCAGCTCTTTGTTGCTTAAGGTAAAACAATAACATGTATGAGGTTAAAGAGGAAGTTATGAAATCTACAACCTCCTACATGGCAGGCTGAATCTGATAATATGGTTTACCTAAATAGAAAAGACACACAAAAATTTGCCAAGAATAAAGCAGCAGTGTATTTCTTTG... | ACCAGACCAGTAAATATGCAAACAAAATGATGAAGTACCACAAGTTTCTCTGTTCACTGAAGTCTATCATAATGACTACATTTTCATTTAGTTTATCTTCTTGAAAGTTTAACATAAATGGAGCTGTAGTATGATATAGACATGATCCACATTTCAGCTCTTTGTTGCTTAAGGTAAAACAATAACATGTATGAGGTTAAAGAGGAAGTTATGAAATCTACAACCTCCTACATGGCAGGCTGAATCTGATAATATGGTTTACCTAAATAGAAAAGACACACAAAAATTTGCCAAGAATAAAGCAGCAGTGTATTTCTTTG... |
Task1_train_5162 | This alteration occurs within gene SLC40A1 (solute carrier family 40 member 1) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Hemochromatosis type 4 | GTAAATATGCAAACAAAATGATGAAGTACCACAAGTTTCTCTGTTCACTGAAGTCTATCATAATGACTACATTTTCATTTAGTTTATCTTCTTGAAAGTTTAACATAAATGGAGCTGTAGTATGATATAGACATGATCCACATTTCAGCTCTTTGTTGCTTAAGGTAAAACAATAACATGTATGAGGTTAAAGAGGAAGTTATGAAATCTACAACCTCCTACATGGCAGGCTGAATCTGATAATATGGTTTACCTAAATAGAAAAGACACACAAAAATTTGCCAAGAATAAAGCAGCAGTGTATTTCTTTGCATACTAAT... | GTAAATATGCAAACAAAATGATGAAGTACCACAAGTTTCTCTGTTCACTGAAGTCTATCATAATGACTACATTTTCATTTAGTTTATCTTCTTGAAAGTTTAACATAAATGGAGCTGTAGTATGATATAGACATGATCCACATTTCAGCTCTTTGTTGCTTAAGGTAAAACAATAACATGTATGAGGTTAAAGAGGAAGTTATGAAATCTACAACCTCCTACATGGCAGGCTGAATCTGATAATATGGTTTACCTAAATAGAAAAGACACACAAAAATTTGCCAAGAATAAAGCAGCAGTGTATTTCTTTGCATACTAAT... |
Task1_train_5163 | Located on Chromosome 2, this mutation impacts HIBCH (3-hydroxyisobutyryl-CoA hydrolase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; 3-hydroxyisobutyryl-CoA hydrolase deficiency | GGCCAGGCGCGGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTAGGCGGATTACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACTGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGGCGTGGTGGCAGGCGCTTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTTTGCCACTGCTCTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAACAAAACAAAACAAAAAAAAGTCGTATAATAAGCACT... | GGCCAGGCGCGGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTAGGCGGATTACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACTGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGGCGTGGTGGCAGGCGCTTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATTTTGCCACTGCTCTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAACAAAACAAAACAAAAAAAAGTCGTATAATAAGCACT... |
Task1_train_5164 | Here is a genetic alteration in HIBCH (3-hydroxyisobutyryl-CoA hydrolase) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; 3-hydroxyisobutyryl-CoA hydrolase deficiency | AATATATATTTTATGTATTAATCTTGTTTACAGTCTATTTCCCCATTATAAAGTAAGTTCCATGAGGGCAGGTGTTATCCTACTCCCTACTCCCCAAGATAATGATTTAAACTGTTTTCTGCCTTTTCAACCTCAACCCCTGGAGCACACCTATGTACCTGGAACCTATGTACCTGGGTACCTCTAACAGTGTCTACGACATAGTAAGCACTCTTGTTTAGTAAATAACGAATCCCCAAGGTTTTCTTAATTGCTGTTGGTGTCTTTCAGATTTAAATCTCCAACTCATTCCTCTAATCTCTAACTCCTAAATGCATTCC... | AATATATATTTTATGTATTAATCTTGTTTACAGTCTATTTCCCCATTATAAAGTAAGTTCCATGAGGGCAGGTGTTATCCTACTCCCTACTCCCCAAGATAATGATTTAAACTGTTTTCTGCCTTTTCAACCTCAACCCCTGGAGCACACCTATGTACCTGGAACCTATGTACCTGGGTACCTCTAACAGTGTCTACGACATAGTAAGCACTCTTGTTTAGTAAATAACGAATCCCCAAGGTTTTCTTAATTGCTGTTGGTGTCTTTCAGATTTAAATCTCCAACTCATTCCTCTAATCTCTAACTCCTAAATGCATTCC... |
Task1_train_5165 | Consider a variant on Chromosome 2 in gene GLS (glutaminase). Determine its clinical classification and disease relevance. | Pathogenic; Developmental and epileptic encephalopathy, 71 | TACTTCATATGAAATTTTATTTCAAATTAGAGATTATTTTTACAAGCATATCAACAGACATTTCATTTAAGACATAAATTAATCTGACTAAACAAAGTTGATATAATTAAGGAAAATATGTTATAATGCAAAATGTTTAATTTTTGAATGAAATGCTAGTAATAGTTATATAAGAACTAAGAGATGTATTTCTGAGATTACTTGGTAAATAAACAAGATCTCAACCTTGGCAGTCTGAATTTTGTTAACCAGATGTCGTCATGCTGAATGTTACCAACTCTGATTGAGTAAGAAGCTTGTTTCAGATGGTCTTAATACTT... | TACTTCATATGAAATTTTATTTCAAATTAGAGATTATTTTTACAAGCATATCAACAGACATTTCATTTAAGACATAAATTAATCTGACTAAACAAAGTTGATATAATTAAGGAAAATATGTTATAATGCAAAATGTTTAATTTTTGAATGAAATGCTAGTAATAGTTATATAAGAACTAAGAGATGTATTTCTGAGATTACTTGGTAAATAAACAAGATCTCAACCTTGGCAGTCTGAATTTTGTTAACCAGATGTCGTCATGCTGAATGTTACCAACTCTGATTGAGTAAGAAGCTTGTTTCAGATGGTCTTAATACTT... |
Task1_train_5166 | Consider this mutation in GLS (glutaminase) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Global developmental delay, progressive ataxia, and elevated glutamine | GTTAGTTTTGAACTCTTGGCCTCAAGTGATCTTCCTGCCTTGGCATCCCAAAGTGCTGGGATTATAGGCATGAGCCCCTGCCCCCCAGCCAAAAATCTGTGACTCGTAAGGACCTTCATTTTAGGTGATTTTAATTTTTTTTTACTAATTATCCTCAAGTACTTACAGTAAAAAATATATGGGTTAGCCCATTCATTTTGAAAGTAAGGAATCTGAGGACCATAGTTGACATGATATTGGCAAAGGTGAAATGAACACCTAGGTCTCTTAACTTCTAGTCTATTTTTTCTTTCATTATTATATGCCTTTATCCTCATTTG... | GTTAGTTTTGAACTCTTGGCCTCAAGTGATCTTCCTGCCTTGGCATCCCAAAGTGCTGGGATTATAGGCATGAGCCCCTGCCCCCCAGCCAAAAATCTGTGACTCGTAAGGACCTTCATTTTAGGTGATTTTAATTTTTTTTTACTAATTATCCTCAAGTACTTACAGTAAAAAATATATGGGTTAGCCCATTCATTTTGAAAGTAAGGAATCTGAGGACCATAGTTGACATGATATTGGCAAAGGTGAAATGAACACCTAGGTCTCTTAACTTCTAGTCTATTTTTTCTTTCATTATTATATGCCTTTATCCTCATTTG... |
Task1_train_5167 | This sequence variant lies in GLS (glutaminase) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | CACTGCAACCTCTGCCTCCTGAGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACTGCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAAATAATGCACCTGCCTCAGCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCATTGCACCTGGCCTATTATATTATTTTATAGTTTGTTTGACTTAGGATACAGATGAGGTGCATACATTATGATTGGGTTTTGTCTCCTTTTTTTTTTTTTTTAAAT... | CACTGCAACCTCTGCCTCCTGAGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACTGCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAAATAATGCACCTGCCTCAGCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCATTGCACCTGGCCTATTATATTATTTTATAGTTTGTTTGACTTAGGATACAGATGAGGTGCATACATTATGATTGGGTTTTGTCTCCTTTTTTTTTTTTTTTAAAT... |
Task1_train_5168 | A variant found in Chromosome 2 affects STAT1 (signal transducer and activator of transcription 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | AGTGTAGGAAGGTACAATCTCTAATGATTGTAGCCCGTGCTTAAGGTGAGGAAAAAAGTCAAAAAATTACACATGAGAAACCTGAATCCAGGCAGATCTTACTGAGGCCTTATCATCGCATTCCCCAAATGTCTGAAGAGTGACGCCCTCTCATTCTCGCTCACCTTTCCCCTCCCTGCCTTCCTCTCTTTGTTGAGCACCTACTTTTTGCCAGGCACCGGGTATACAGTAAGGAAGAAAGGCCAGTAATAACTCAGGATATTTTTTGGAAGCATTAAATAAATTTTTAAAAATGAGCTGGAATAGCTCCATGTGGAAAA... | AGTGTAGGAAGGTACAATCTCTAATGATTGTAGCCCGTGCTTAAGGTGAGGAAAAAAGTCAAAAAATTACACATGAGAAACCTGAATCCAGGCAGATCTTACTGAGGCCTTATCATCGCATTCCCCAAATGTCTGAAGAGTGACGCCCTCTCATTCTCGCTCACCTTTCCCCTCCCTGCCTTCCTCTCTTTGTTGAGCACCTACTTTTTGCCAGGCACCGGGTATACAGTAAGGAAGAAAGGCCAGTAATAACTCAGGATATTTTTTGGAAGCATTAAATAAATTTTTAAAAATGAGCTGGAATAGCTCCATGTGGAAAA... |
Task1_train_5169 | A variant has been detected on Chromosome 2 in STAT1 (signal transducer and activator of transcription 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | ACTGTCGAATTCTACAGAGCCCACTATCCGAGACACCTCGTCAAACTCCTCAGGAGACATGGGGAGCAGGTTGTCTGTGGTCTGAAGTCTAGAAGGGTGACTAAAATGGGGAAAAAGAAAAGAGCAATGTCAACATCTGAGTGATGAAAGCACTAGTGCATACTTACACACTTTATCTTTTGTCTGTAATTGAATTATCACGTTATATTTTTATTTTGGGTAAGTGCATACACTTGTAAAATACATTTGCAAAAGTACAGCTCATGGGAGGCTCATGTCCCCAGCCCAGCCCCTTGGGAAATGTTTCACACTCCAGGGAT... | ACTGTCGAATTCTACAGAGCCCACTATCCGAGACACCTCGTCAAACTCCTCAGGAGACATGGGGAGCAGGTTGTCTGTGGTCTGAAGTCTAGAAGGGTGACTAAAATGGGGAAAAAGAAAAGAGCAATGTCAACATCTGAGTGATGAAAGCACTAGTGCATACTTACACACTTTATCTTTTGTCTGTAATTGAATTATCACGTTATATTTTTATTTTGGGTAAGTGCATACACTTGTAAAATACATTTGCAAAAGTACAGCTCATGGGAGGCTCATGTCCCCAGCCCAGCCCCTTGGGAAATGTTTCACACTCCAGGGAT... |
Task1_train_5170 | The variant affects gene STAT1 (signal transducer and activator of transcription 1), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | GGAAAAAGAAAAGAGCAATGTCAACATCTGAGTGATGAAAGCACTAGTGCATACTTACACACTTTATCTTTTGTCTGTAATTGAATTATCACGTTATATTTTTATTTTGGGTAAGTGCATACACTTGTAAAATACATTTGCAAAAGTACAGCTCATGGGAGGCTCATGTCCCCAGCCCAGCCCCTTGGGAAATGTTTCACACTCCAGGGATGTGATAAGCAATAGCCAGACTGGAATCTGTGCCGCTTCTGCCTGGGTAAGCCTAGGTGTGAGCATGTGCGGTGCACTACCCTGAGATGACAATGCCTCGTGGCTTACCC... | GGAAAAAGAAAAGAGCAATGTCAACATCTGAGTGATGAAAGCACTAGTGCATACTTACACACTTTATCTTTTGTCTGTAATTGAATTATCACGTTATATTTTTATTTTGGGTAAGTGCATACACTTGTAAAATACATTTGCAAAAGTACAGCTCATGGGAGGCTCATGTCCCCAGCCCAGCCCCTTGGGAAATGTTTCACACTCCAGGGATGTGATAAGCAATAGCCAGACTGGAATCTGTGCCGCTTCTGCCTGGGTAAGCCTAGGTGTGAGCATGTGCGGTGCACTACCCTGAGATGACAATGCCTCGTGGCTTACCC... |
Task1_train_5171 | This genomic variant is located on Chromosome 2, within the STAT1 (signal transducer and activator of transcription 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Immunodeficiency 31B | TGTCAATATTTGGATACAGATACTTCAGGGGATTCTCAGGAATATTCTCAGCAGCCATGACTTTGTAATTGCGAATGATGTCAGGGAAAGTAACAGCAGAAAGTTCTTTCTTCGTGTAGGGTTCAACCGCATGGAAGTCAGGTTCTAAAAAGGAGAAAAGCTAAGTAAATCCCATAGAACATCCCAAAATGAAAGAGGACAGAGAAATAAAACACTGCAGAGTTGATGGATTTGAGTGAACCTCATAAGAACTAATCACAATCTAAGCATTATAACATATACAGTAGACTGCTTTATTTCTAAATAAATTATAATACTGT... | TGTCAATATTTGGATACAGATACTTCAGGGGATTCTCAGGAATATTCTCAGCAGCCATGACTTTGTAATTGCGAATGATGTCAGGGAAAGTAACAGCAGAAAGTTCTTTCTTCGTGTAGGGTTCAACCGCATGGAAGTCAGGTTCTAAAAAGGAGAAAAGCTAAGTAAATCCCATAGAACATCCCAAAATGAAAGAGGACAGAGAAATAAAACACTGCAGAGTTGATGGATTTGAGTGAACCTCATAAGAACTAATCACAATCTAAGCATTATAACATATACAGTAGACTGCTTTATTTCTAAATAAATTATAATACTGT... |
Task1_train_5172 | The gene STAT1 (signal transducer and activator of transcription 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | GTCACTGAGTTAGGAAGAGCCTACTGCTGTTTGGAGTAAATGCAGTGCTGCTCTACAGAAAGCAAATCTGGATACAAGTTGTCCACGGATTTTTAAAGAAATAGTTCAGATAGCCTCACTCACTGAAAGATCTGACCTTGAGACTAGTGGATCTTTGATTTGTTTAGTATGAAGGACTAATAAATGCACTGACATTAACCACTGAAAGGGAATTATCTACCACTGTCTAGACTCTGTCCAATCAGGCAAAACTGCAGATCAAAAGAGGCATCCTCTTGTGGGGACGGCATCCTCTGCTACCTGGGCCCCACCTGAGGCAA... | GTCACTGAGTTAGGAAGAGCCTACTGCTGTTTGGAGTAAATGCAGTGCTGCTCTACAGAAAGCAAATCTGGATACAAGTTGTCCACGGATTTTTAAAGAAATAGTTCAGATAGCCTCACTCACTGAAAGATCTGACCTTGAGACTAGTGGATCTTTGATTTGTTTAGTATGAAGGACTAATAAATGCACTGACATTAACCACTGAAAGGGAATTATCTACCACTGTCTAGACTCTGTCCAATCAGGCAAAACTGCAGATCAAAAGAGGCATCCTCTTGTGGGGACGGCATCCTCTGCTACCTGGGCCCCACCTGAGGCAA... |
Task1_train_5173 | This alteration occurs within gene STAT1 (signal transducer and activator of transcription 1) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | GTCACTGAGTTAGGAAGAGCCTACTGCTGTTTGGAGTAAATGCAGTGCTGCTCTACAGAAAGCAAATCTGGATACAAGTTGTCCACGGATTTTTAAAGAAATAGTTCAGATAGCCTCACTCACTGAAAGATCTGACCTTGAGACTAGTGGATCTTTGATTTGTTTAGTATGAAGGACTAATAAATGCACTGACATTAACCACTGAAAGGGAATTATCTACCACTGTCTAGACTCTGTCCAATCAGGCAAAACTGCAGATCAAAAGAGGCATCCTCTTGTGGGGACGGCATCCTCTGCTACCTGGGCCCCACCTGAGGCAA... | GTCACTGAGTTAGGAAGAGCCTACTGCTGTTTGGAGTAAATGCAGTGCTGCTCTACAGAAAGCAAATCTGGATACAAGTTGTCCACGGATTTTTAAAGAAATAGTTCAGATAGCCTCACTCACTGAAAGATCTGACCTTGAGACTAGTGGATCTTTGATTTGTTTAGTATGAAGGACTAATAAATGCACTGACATTAACCACTGAAAGGGAATTATCTACCACTGTCTAGACTCTGTCCAATCAGGCAAAACTGCAGATCAAAAGAGGCATCCTCTTGTGGGGACGGCATCCTCTGCTACCTGGGCCCCACCTGAGGCAA... |
Task1_train_5174 | Here is a genetic alteration in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Immunodeficiency 31B | GTCACTGAGTTAGGAAGAGCCTACTGCTGTTTGGAGTAAATGCAGTGCTGCTCTACAGAAAGCAAATCTGGATACAAGTTGTCCACGGATTTTTAAAGAAATAGTTCAGATAGCCTCACTCACTGAAAGATCTGACCTTGAGACTAGTGGATCTTTGATTTGTTTAGTATGAAGGACTAATAAATGCACTGACATTAACCACTGAAAGGGAATTATCTACCACTGTCTAGACTCTGTCCAATCAGGCAAAACTGCAGATCAAAAGAGGCATCCTCTTGTGGGGACGGCATCCTCTGCTACCTGGGCCCCACCTGAGGCAA... | GTCACTGAGTTAGGAAGAGCCTACTGCTGTTTGGAGTAAATGCAGTGCTGCTCTACAGAAAGCAAATCTGGATACAAGTTGTCCACGGATTTTTAAAGAAATAGTTCAGATAGCCTCACTCACTGAAAGATCTGACCTTGAGACTAGTGGATCTTTGATTTGTTTAGTATGAAGGACTAATAAATGCACTGACATTAACCACTGAAAGGGAATTATCTACCACTGTCTAGACTCTGTCCAATCAGGCAAAACTGCAGATCAAAAGAGGCATCCTCTTGTGGGGACGGCATCCTCTGCTACCTGGGCCCCACCTGAGGCAA... |
Task1_train_5175 | Given this context: Chromosome 2, gene STAT1 (signal transducer and activator of transcription 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | GTCACTGAGTTAGGAAGAGCCTACTGCTGTTTGGAGTAAATGCAGTGCTGCTCTACAGAAAGCAAATCTGGATACAAGTTGTCCACGGATTTTTAAAGAAATAGTTCAGATAGCCTCACTCACTGAAAGATCTGACCTTGAGACTAGTGGATCTTTGATTTGTTTAGTATGAAGGACTAATAAATGCACTGACATTAACCACTGAAAGGGAATTATCTACCACTGTCTAGACTCTGTCCAATCAGGCAAAACTGCAGATCAAAAGAGGCATCCTCTTGTGGGGACGGCATCCTCTGCTACCTGGGCCCCACCTGAGGCAA... | GTCACTGAGTTAGGAAGAGCCTACTGCTGTTTGGAGTAAATGCAGTGCTGCTCTACAGAAAGCAAATCTGGATACAAGTTGTCCACGGATTTTTAAAGAAATAGTTCAGATAGCCTCACTCACTGAAAGATCTGACCTTGAGACTAGTGGATCTTTGATTTGTTTAGTATGAAGGACTAATAAATGCACTGACATTAACCACTGAAAGGGAATTATCTACCACTGTCTAGACTCTGTCCAATCAGGCAAAACTGCAGATCAAAAGAGGCATCCTCTTGTGGGGACGGCATCCTCTGCTACCTGGGCCCCACCTGAGGCAA... |
Task1_train_5176 | This sequence change occurs on Chromosome 2, altering STAT1 (signal transducer and activator of transcription 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TTAGGAAGAGCCTACTGCTGTTTGGAGTAAATGCAGTGCTGCTCTACAGAAAGCAAATCTGGATACAAGTTGTCCACGGATTTTTAAAGAAATAGTTCAGATAGCCTCACTCACTGAAAGATCTGACCTTGAGACTAGTGGATCTTTGATTTGTTTAGTATGAAGGACTAATAAATGCACTGACATTAACCACTGAAAGGGAATTATCTACCACTGTCTAGACTCTGTCCAATCAGGCAAAACTGCAGATCAAAAGAGGCATCCTCTTGTGGGGACGGCATCCTCTGCTACCTGGGCCCCACCTGAGGCAAGGGCCCTGG... | TTAGGAAGAGCCTACTGCTGTTTGGAGTAAATGCAGTGCTGCTCTACAGAAAGCAAATCTGGATACAAGTTGTCCACGGATTTTTAAAGAAATAGTTCAGATAGCCTCACTCACTGAAAGATCTGACCTTGAGACTAGTGGATCTTTGATTTGTTTAGTATGAAGGACTAATAAATGCACTGACATTAACCACTGAAAGGGAATTATCTACCACTGTCTAGACTCTGTCCAATCAGGCAAAACTGCAGATCAAAAGAGGCATCCTCTTGTGGGGACGGCATCCTCTGCTACCTGGGCCCCACCTGAGGCAAGGGCCCTGG... |
Task1_train_5177 | This variant affects gene STAT1 (signal transducer and activator of transcription 1) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Immunodeficiency 31B | AATAGCAGAGGGGAAAAGAGCAATTAGAGAGATATTTTTATGAATTTCAATTTTTATAAACATAACAAGTTAATATGCATATACCAAGAAGCTTCTCTCCCAACATGTTCAGCTGGTCCACATTGAGACCTCTTTTGGTGACAGAAGAAAACTGCCAACTCAGCACTTCTGAAAGCTGAGCCCATCGTGCACATGGTGGAGTCAGGAAGAAGGACAGATTCTAGAGAGAAAACACCCAAAATCTAAGGGTTACTACAGAGACACCAGTCACAAGTGTGGCACTAAAACATATGTCCATCCCAAAGTTCAATTCTAGTTTA... | AATAGCAGAGGGGAAAAGAGCAATTAGAGAGATATTTTTATGAATTTCAATTTTTATAAACATAACAAGTTAATATGCATATACCAAGAAGCTTCTCTCCCAACATGTTCAGCTGGTCCACATTGAGACCTCTTTTGGTGACAGAAGAAAACTGCCAACTCAGCACTTCTGAAAGCTGAGCCCATCGTGCACATGGTGGAGTCAGGAAGAAGGACAGATTCTAGAGAGAAAACACCCAAAATCTAAGGGTTACTACAGAGACACCAGTCACAAGTGTGGCACTAAAACATATGTCCATCCCAAAGTTCAATTCTAGTTTA... |
Task1_train_5178 | Here is a genetic alteration in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | AATAGCAGAGGGGAAAAGAGCAATTAGAGAGATATTTTTATGAATTTCAATTTTTATAAACATAACAAGTTAATATGCATATACCAAGAAGCTTCTCTCCCAACATGTTCAGCTGGTCCACATTGAGACCTCTTTTGGTGACAGAAGAAAACTGCCAACTCAGCACTTCTGAAAGCTGAGCCCATCGTGCACATGGTGGAGTCAGGAAGAAGGACAGATTCTAGAGAGAAAACACCCAAAATCTAAGGGTTACTACAGAGACACCAGTCACAAGTGTGGCACTAAAACATATGTCCATCCCAAAGTTCAATTCTAGTTTA... | AATAGCAGAGGGGAAAAGAGCAATTAGAGAGATATTTTTATGAATTTCAATTTTTATAAACATAACAAGTTAATATGCATATACCAAGAAGCTTCTCTCCCAACATGTTCAGCTGGTCCACATTGAGACCTCTTTTGGTGACAGAAGAAAACTGCCAACTCAGCACTTCTGAAAGCTGAGCCCATCGTGCACATGGTGGAGTCAGGAAGAAGGACAGATTCTAGAGAGAAAACACCCAAAATCTAAGGGTTACTACAGAGACACCAGTCACAAGTGTGGCACTAAAACATATGTCCATCCCAAAGTTCAATTCTAGTTTA... |
Task1_train_5179 | A mutation found in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | AATAGCAGAGGGGAAAAGAGCAATTAGAGAGATATTTTTATGAATTTCAATTTTTATAAACATAACAAGTTAATATGCATATACCAAGAAGCTTCTCTCCCAACATGTTCAGCTGGTCCACATTGAGACCTCTTTTGGTGACAGAAGAAAACTGCCAACTCAGCACTTCTGAAAGCTGAGCCCATCGTGCACATGGTGGAGTCAGGAAGAAGGACAGATTCTAGAGAGAAAACACCCAAAATCTAAGGGTTACTACAGAGACACCAGTCACAAGTGTGGCACTAAAACATATGTCCATCCCAAAGTTCAATTCTAGTTTA... | AATAGCAGAGGGGAAAAGAGCAATTAGAGAGATATTTTTATGAATTTCAATTTTTATAAACATAACAAGTTAATATGCATATACCAAGAAGCTTCTCTCCCAACATGTTCAGCTGGTCCACATTGAGACCTCTTTTGGTGACAGAAGAAAACTGCCAACTCAGCACTTCTGAAAGCTGAGCCCATCGTGCACATGGTGGAGTCAGGAAGAAGGACAGATTCTAGAGAGAAAACACCCAAAATCTAAGGGTTACTACAGAGACACCAGTCACAAGTGTGGCACTAAAACATATGTCCATCCCAAAGTTCAATTCTAGTTTA... |
Task1_train_5180 | This sequence variant lies in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | GCCTTCATAAGCATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAAC... | GCCTTCATAAGCATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAAC... |
Task1_train_5181 | Gene STAT1 (signal transducer and activator of transcription 1) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | TTCATAAGCATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGA... | TTCATAAGCATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGA... |
Task1_train_5182 | The gene STAT1 (signal transducer and activator of transcription 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | TTCATAAGCATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGA... | TTCATAAGCATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGA... |
Task1_train_5183 | Gene STAT1 (signal transducer and activator of transcription 1) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Immunodeficiency 31B | TTCATAAGCATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGA... | TTCATAAGCATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGA... |
Task1_train_5184 | A mutation found in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | ATAAGCATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGATGC... | ATAAGCATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGATGC... |
Task1_train_5185 | Here is a variant affecting STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | ATAAGCATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGATGC... | ATAAGCATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGATGC... |
Task1_train_5186 | The gene STAT1 (signal transducer and activator of transcription 1) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Immunodeficiency 31B | ATAAGCATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGATGC... | ATAAGCATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGATGC... |
Task1_train_5187 | Consider this mutation in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | CATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGATGCAAAGG... | CATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGATGCAAAGG... |
Task1_train_5188 | A sequence alteration has been identified in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | CATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGATGCAAAGG... | CATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGATGCAAAGG... |
Task1_train_5189 | Mutation context: Chromosome 2, Gene STAT1 (signal transducer and activator of transcription 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | CATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGATGCAAAGG... | CATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGATGCAAAGG... |
Task1_train_5190 | Here is a genetic alteration in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Immunodeficiency 31B | CATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGATGCAAAGG... | CATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGATGCAAAGG... |
Task1_train_5191 | This variant lies on Chromosome 2 and affects the gene STAT1 (signal transducer and activator of transcription 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Inherited Immunodeficiency Diseases | CATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGATGCAAAGG... | CATTACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGATGCAAAGG... |
Task1_train_5192 | A change on Chromosome 2 affects gene STAT1 (signal transducer and activator of transcription 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | TACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGATGCAAAGGCAA... | TACCTCATGTGAGCCTCACAACTTAGAACTAGAGAGGTGCAACAGCTAGACCCAGGGAGGTCAAAACATAGTTCAGGCGCACACCAGGGCTAGAAGGCATCTTTGCACTGCCTGGGCCTGTGTTTGTCCCGCTGCTCCATGTGACCTCCACTGGTCCTGGTGTGGAAGGACTGCACACTGTGTGTGCATAAATGACGAAAGTGTTCTCAACCAAAACAACTCCAGATATTTCATCCTTTGTCCATAGTTCATTTCTGAATGCATCACAAACCCAACTCCTTAAGGATCACGCTGTAGGAAGGAAACTGATGCAAAGGCAA... |
Task1_train_5193 | This alteration occurs within gene STAT1 (signal transducer and activator of transcription 1) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | GGAAAGTCAGTTATCTGGGGAAAGTGGCAAGTTTAAGTTTTAAGTCTGAGGTTAAAATTTTGAAAGACCTTGCACTTCTATATCCAGTGATTACTTTGTCATGTTCTGGCCAAATAATGTATCCGTGAGCGTCCTAGATGTAGACTAGAAATCATGGGCTCACTCACAGATCTATTAGTTCCCCTTCCTTTCCAATCTCAACCAGAAGTTCAATGCTTTTGTGAATGACAATCACCATTAGCTATGGAAGGGACCTATTTTCCCGTTTGGAAAAAAAAAGAATTTAAAATAAAAGGGATAGTATGATAAAAGCTGACTTG... | GGAAAGTCAGTTATCTGGGGAAAGTGGCAAGTTTAAGTTTTAAGTCTGAGGTTAAAATTTTGAAAGACCTTGCACTTCTATATCCAGTGATTACTTTGTCATGTTCTGGCCAAATAATGTATCCGTGAGCGTCCTAGATGTAGACTAGAAATCATGGGCTCACTCACAGATCTATTAGTTCCCCTTCCTTTCCAATCTCAACCAGAAGTTCAATGCTTTTGTGAATGACAATCACCATTAGCTATGGAAGGGACCTATTTTCCCGTTTGGAAAAAAAAAGAATTTAAAATAAAAGGGATAGTATGATAAAAGCTGACTTG... |
Task1_train_5194 | With a mutation on Chromosome 2 in gene STAT1 (signal transducer and activator of transcription 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | ATCTCATATGCACAAAGAGACACTCACTCTTTTGTTCATTTATAGTCTAAAAAGGCACAGGAATGTTGATACCAGCTCCAGGGGAAGCTCCCAACATCCACCAAGGGAGCTGCTGATTTAAATCTGCTGGGGTCATTTGTGATGGCCCTGGTGGATCTGACTAGAAGTCTCTGCTCATGCGCAGCATTGTCAGGACTCTGGGTTCAGCCCTGGGGCCCTAGGGAGGCAAACTTCCACCCAGTATAGACCCTTCCACAGCTAGAAATCTGCTTATTTAGTGGAGGAATCTGTGCTTGAGTAACAAAATCAACATTTCAATA... | ATCTCATATGCACAAAGAGACACTCACTCTTTTGTTCATTTATAGTCTAAAAAGGCACAGGAATGTTGATACCAGCTCCAGGGGAAGCTCCCAACATCCACCAAGGGAGCTGCTGATTTAAATCTGCTGGGGTCATTTGTGATGGCCCTGGTGGATCTGACTAGAAGTCTCTGCTCATGCGCAGCATTGTCAGGACTCTGGGTTCAGCCCTGGGGCCCTAGGGAGGCAAACTTCCACCCAGTATAGACCCTTCCACAGCTAGAAATCTGCTTATTTAGTGGAGGAATCTGTGCTTGAGTAACAAAATCAACATTTCAATA... |
Task1_train_5195 | This alteration occurs within gene STAT1 (signal transducer and activator of transcription 1) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Chronic mucocutaneous candidiasis | AGCCACCGTGCCGGGCCTTGTTGCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTG... | AGCCACCGTGCCGGGCCTTGTTGCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTG... |
Task1_train_5196 | The following genetic variant occurs in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | TGTTGCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTA... | TGTTGCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTA... |
Task1_train_5197 | This sequence variant lies in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | TGTTGCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTA... | TGTTGCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTA... |
Task1_train_5198 | Here is a mutation in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Immunodeficiency 31B | TGTTGCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTA... | TGTTGCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTA... |
Task1_train_5199 | This alteration in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Immunodeficiency 31B | TGCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAG... | TGCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAG... |
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