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_8000 | This gene mutation involves TP63 (tumor protein p63) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TCTTCAAGGATGCACATTTTCTTTATTATACAGACTATTTCTTTTGCCACCAACATCCTGTTCATGCAATTTCATTTTATTTTCTTTATTTTTAAGGTAAAGAACTAACTCTTTTATTGTTTTCTGCTCTGCAGGACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATCACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAGGTAAAAAGCAAAAAACCAAACCAAAAAACAACACCTCTATGGACTGAGTAGACTTGAGAGAACATCTGTT... | TCTTCAAGGATGCACATTTTCTTTATTATACAGACTATTTCTTTTGCCACCAACATCCTGTTCATGCAATTTCATTTTATTTTCTTTATTTTTAAGGTAAAGAACTAACTCTTTTATTGTTTTCTGCTCTGCAGGACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATCACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAGGTAAAAAGCAAAAAACCAAACCAAAAAACAACACCTCTATGGACTGAGTAGACTTGAGAGAACATCTGTT... |
Task1_train_8001 | A mutation on Chromosome 3 affecting TP63 (tumor protein p63) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | TTCTTTATTATACAGACTATTTCTTTTGCCACCAACATCCTGTTCATGCAATTTCATTTTATTTTCTTTATTTTTAAGGTAAAGAACTAACTCTTTTATTGTTTTCTGCTCTGCAGGACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATCACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAGGTAAAAAGCAAAAAACCAAACCAAAAAACAACACCTCTATGGACTGAGTAGACTTGAGAGAACATCTGTTTCAGCAACAGGGATGTTT... | TTCTTTATTATACAGACTATTTCTTTTGCCACCAACATCCTGTTCATGCAATTTCATTTTATTTTCTTTATTTTTAAGGTAAAGAACTAACTCTTTTATTGTTTTCTGCTCTGCAGGACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATCACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAGGTAAAAAGCAAAAAACCAAACCAAAAAACAACACCTCTATGGACTGAGTAGACTTGAGAGAACATCTGTTTCAGCAACAGGGATGTTT... |
Task1_train_8002 | Here’s a variant in TP63 (tumor protein p63) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; TP63-Related Spectrum Disorders | TTCTTTATTATACAGACTATTTCTTTTGCCACCAACATCCTGTTCATGCAATTTCATTTTATTTTCTTTATTTTTAAGGTAAAGAACTAACTCTTTTATTGTTTTCTGCTCTGCAGGACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATCACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAGGTAAAAAGCAAAAAACCAAACCAAAAAACAACACCTCTATGGACTGAGTAGACTTGAGAGAACATCTGTTTCAGCAACAGGGATGTTT... | TTCTTTATTATACAGACTATTTCTTTTGCCACCAACATCCTGTTCATGCAATTTCATTTTATTTTCTTTATTTTTAAGGTAAAGAACTAACTCTTTTATTGTTTTCTGCTCTGCAGGACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATCACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAGGTAAAAAGCAAAAAACCAAACCAAAAAACAACACCTCTATGGACTGAGTAGACTTGAGAGAACATCTGTTTCAGCAACAGGGATGTTT... |
Task1_train_8003 | Given a variant located on Chromosome 3 and affecting TP63 (tumor protein p63), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ATTATACAGACTATTTCTTTTGCCACCAACATCCTGTTCATGCAATTTCATTTTATTTTCTTTATTTTTAAGGTAAAGAACTAACTCTTTTATTGTTTTCTGCTCTGCAGGACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATCACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAGGTAAAAAGCAAAAAACCAAACCAAAAAACAACACCTCTATGGACTGAGTAGACTTGAGAGAACATCTGTTTCAGCAACAGGGATGTTTCTAGCA... | ATTATACAGACTATTTCTTTTGCCACCAACATCCTGTTCATGCAATTTCATTTTATTTTCTTTATTTTTAAGGTAAAGAACTAACTCTTTTATTGTTTTCTGCTCTGCAGGACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATCACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAGGTAAAAAGCAAAAAACCAAACCAAAAAACAACACCTCTATGGACTGAGTAGACTTGAGAGAACATCTGTTTCAGCAACAGGGATGTTTCTAGCA... |
Task1_train_8004 | Here’s a variant in TP63 (tumor protein p63) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | TACAGACTATTTCTTTTGCCACCAACATCCTGTTCATGCAATTTCATTTTATTTTCTTTATTTTTAAGGTAAAGAACTAACTCTTTTATTGTTTTCTGCTCTGCAGGACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATCACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAGGTAAAAAGCAAAAAACCAAACCAAAAAACAACACCTCTATGGACTGAGTAGACTTGAGAGAACATCTGTTTCAGCAACAGGGATGTTTCTAGCATCTA... | TACAGACTATTTCTTTTGCCACCAACATCCTGTTCATGCAATTTCATTTTATTTTCTTTATTTTTAAGGTAAAGAACTAACTCTTTTATTGTTTTCTGCTCTGCAGGACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATCACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAGGTAAAAAGCAAAAAACCAAACCAAAAAACAACACCTCTATGGACTGAGTAGACTTGAGAGAACATCTGTTTCAGCAACAGGGATGTTTCTAGCATCTA... |
Task1_train_8005 | A variant was discovered in gene TP63 (tumor protein p63), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | AGACTATTTCTTTTGCCACCAACATCCTGTTCATGCAATTTCATTTTATTTTCTTTATTTTTAAGGTAAAGAACTAACTCTTTTATTGTTTTCTGCTCTGCAGGACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATCACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAGGTAAAAAGCAAAAAACCAAACCAAAAAACAACACCTCTATGGACTGAGTAGACTTGAGAGAACATCTGTTTCAGCAACAGGGATGTTTCTAGCATCTATCA... | AGACTATTTCTTTTGCCACCAACATCCTGTTCATGCAATTTCATTTTATTTTCTTTATTTTTAAGGTAAAGAACTAACTCTTTTATTGTTTTCTGCTCTGCAGGACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATCACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAGGTAAAAAGCAAAAAACCAAACCAAAAAACAACACCTCTATGGACTGAGTAGACTTGAGAGAACATCTGTTTCAGCAACAGGGATGTTTCTAGCATCTATCA... |
Task1_train_8006 | A mutation in TP63 (tumor protein p63), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; TP63-Related Spectrum Disorders | TTTTGCCACCAACATCCTGTTCATGCAATTTCATTTTATTTTCTTTATTTTTAAGGTAAAGAACTAACTCTTTTATTGTTTTCTGCTCTGCAGGACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATCACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAGGTAAAAAGCAAAAAACCAAACCAAAAAACAACACCTCTATGGACTGAGTAGACTTGAGAGAACATCTGTTTCAGCAACAGGGATGTTTCTAGCATCTATCACTGTCTTAGT... | TTTTGCCACCAACATCCTGTTCATGCAATTTCATTTTATTTTCTTTATTTTTAAGGTAAAGAACTAACTCTTTTATTGTTTTCTGCTCTGCAGGACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATCACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAGGTAAAAAGCAAAAAACCAAACCAAAAAACAACACCTCTATGGACTGAGTAGACTTGAGAGAACATCTGTTTCAGCAACAGGGATGTTTCTAGCATCTATCACTGTCTTAGT... |
Task1_train_8007 | Chromosome 3 houses a mutation in gene TP63 (tumor protein p63). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | TTGCCACCAACATCCTGTTCATGCAATTTCATTTTATTTTCTTTATTTTTAAGGTAAAGAACTAACTCTTTTATTGTTTTCTGCTCTGCAGGACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATCACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAGGTAAAAAGCAAAAAACCAAACCAAAAAACAACACCTCTATGGACTGAGTAGACTTGAGAGAACATCTGTTTCAGCAACAGGGATGTTTCTAGCATCTATCACTGTCTTAGTTC... | TTGCCACCAACATCCTGTTCATGCAATTTCATTTTATTTTCTTTATTTTTAAGGTAAAGAACTAACTCTTTTATTGTTTTCTGCTCTGCAGGACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATCACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAGGTAAAAAGCAAAAAACCAAACCAAAAAACAACACCTCTATGGACTGAGTAGACTTGAGAGAACATCTGTTTCAGCAACAGGGATGTTTCTAGCATCTATCACTGTCTTAGTTC... |
Task1_train_8008 | Gene TP63 (tumor protein p63) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; TP63-Related Spectrum Disorders | ATCCTGTTCATGCAATTTCATTTTATTTTCTTTATTTTTAAGGTAAAGAACTAACTCTTTTATTGTTTTCTGCTCTGCAGGACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATCACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAGGTAAAAAGCAAAAAACCAAACCAAAAAACAACACCTCTATGGACTGAGTAGACTTGAGAGAACATCTGTTTCAGCAACAGGGATGTTTCTAGCATCTATCACTGTCTTAGTTCTTGTCATCAAA... | ATCCTGTTCATGCAATTTCATTTTATTTTCTTTATTTTTAAGGTAAAGAACTAACTCTTTTATTGTTTTCTGCTCTGCAGGACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATCACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAGGTAAAAAGCAAAAAACCAAACCAAAAAACAACACCTCTATGGACTGAGTAGACTTGAGAGAACATCTGTTTCAGCAACAGGGATGTTTCTAGCATCTATCACTGTCTTAGTTCTTGTCATCAAA... |
Task1_train_8009 | An alteration has been detected in TP63 (tumor protein p63) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Rapp-Hodgkin syndrome | AACCTGCCTTTTATTTCTTCTCACACACATTCCTCATATCAGCTAAGTACAAATGAAAAAGGCACTGTAAGAATTGGGCCTCCAAGTGGATGATGACTGGCATATAGCTTTACTATAAATATAATTATCTTCTCCACTAGGACTAAATCTAGCAAAGTGGATACACAAACTTGAAGGAAAAAAAAGTCGTGGTAAAAATGCAAAAGATTGTATAACACCCTCGGGGATACAGAAGACTGAACATTGCATGGGTATCATATAATCCTTACTACCTAAAAAACAGTACCCTCAAGCTTGTCTTTTGAAATCCTAATTATTTT... | AACCTGCCTTTTATTTCTTCTCACACACATTCCTCATATCAGCTAAGTACAAATGAAAAAGGCACTGTAAGAATTGGGCCTCCAAGTGGATGATGACTGGCATATAGCTTTACTATAAATATAATTATCTTCTCCACTAGGACTAAATCTAGCAAAGTGGATACACAAACTTGAAGGAAAAAAAAGTCGTGGTAAAAATGCAAAAGATTGTATAACACCCTCGGGGATACAGAAGACTGAACATTGCATGGGTATCATATAATCCTTACTACCTAAAAAACAGTACCCTCAAGCTTGTCTTTTGAAATCCTAATTATTTT... |
Task1_train_8010 | A mutation found in TP63 (tumor protein p63) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | AACCTGCCTTTTATTTCTTCTCACACACATTCCTCATATCAGCTAAGTACAAATGAAAAAGGCACTGTAAGAATTGGGCCTCCAAGTGGATGATGACTGGCATATAGCTTTACTATAAATATAATTATCTTCTCCACTAGGACTAAATCTAGCAAAGTGGATACACAAACTTGAAGGAAAAAAAAGTCGTGGTAAAAATGCAAAAGATTGTATAACACCCTCGGGGATACAGAAGACTGAACATTGCATGGGTATCATATAATCCTTACTACCTAAAAAACAGTACCCTCAAGCTTGTCTTTTGAAATCCTAATTATTTT... | AACCTGCCTTTTATTTCTTCTCACACACATTCCTCATATCAGCTAAGTACAAATGAAAAAGGCACTGTAAGAATTGGGCCTCCAAGTGGATGATGACTGGCATATAGCTTTACTATAAATATAATTATCTTCTCCACTAGGACTAAATCTAGCAAAGTGGATACACAAACTTGAAGGAAAAAAAAGTCGTGGTAAAAATGCAAAAGATTGTATAACACCCTCGGGGATACAGAAGACTGAACATTGCATGGGTATCATATAATCCTTACTACCTAAAAAACAGTACCCTCAAGCTTGTCTTTTGAAATCCTAATTATTTT... |
Task1_train_8011 | The gene TP63 (tumor protein p63) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | CTGAAAATGGACCATAAGTAATAGAATATTTAATTGTATCATCATTTATTAGGCACGTGAGTCCTTCTAAATATTGAAGTCAGTCTCCCTATTCCCAAATAAATGTTCCAAGGGTCACTCTTTCATTCACAGATTTGTGCATTTATCCACTTACCCTAAGTTTACTGAGCACCTACTCTGTGCCAGGCACTGTGCTAGGGACTGTAGGGATCTAGACACCTATAAGATCTAATCTCTGTGCTTGCACAGGTTAGTGAGGGAGACAGAAATATCACCCTCGAAGGCAAATACAAGGAAGAATATGTTAACATTAAGAGCAA... | CTGAAAATGGACCATAAGTAATAGAATATTTAATTGTATCATCATTTATTAGGCACGTGAGTCCTTCTAAATATTGAAGTCAGTCTCCCTATTCCCAAATAAATGTTCCAAGGGTCACTCTTTCATTCACAGATTTGTGCATTTATCCACTTACCCTAAGTTTACTGAGCACCTACTCTGTGCCAGGCACTGTGCTAGGGACTGTAGGGATCTAGACACCTATAAGATCTAATCTCTGTGCTTGCACAGGTTAGTGAGGGAGACAGAAATATCACCCTCGAAGGCAAATACAAGGAAGAATATGTTAACATTAAGAGCAA... |
Task1_train_8012 | Given this context: Chromosome 3, gene TP63 (tumor protein p63) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; TP63-Related Spectrum Disorders | TGTATCATCATTTATTAGGCACGTGAGTCCTTCTAAATATTGAAGTCAGTCTCCCTATTCCCAAATAAATGTTCCAAGGGTCACTCTTTCATTCACAGATTTGTGCATTTATCCACTTACCCTAAGTTTACTGAGCACCTACTCTGTGCCAGGCACTGTGCTAGGGACTGTAGGGATCTAGACACCTATAAGATCTAATCTCTGTGCTTGCACAGGTTAGTGAGGGAGACAGAAATATCACCCTCGAAGGCAAATACAAGGAAGAATATGTTAACATTAAGAGCAATTAGCAATTAGAGAATTAGAAGCAGAGAAAGGGG... | TGTATCATCATTTATTAGGCACGTGAGTCCTTCTAAATATTGAAGTCAGTCTCCCTATTCCCAAATAAATGTTCCAAGGGTCACTCTTTCATTCACAGATTTGTGCATTTATCCACTTACCCTAAGTTTACTGAGCACCTACTCTGTGCCAGGCACTGTGCTAGGGACTGTAGGGATCTAGACACCTATAAGATCTAATCTCTGTGCTTGCACAGGTTAGTGAGGGAGACAGAAATATCACCCTCGAAGGCAAATACAAGGAAGAATATGTTAACATTAAGAGCAATTAGCAATTAGAGAATTAGAAGCAGAGAAAGGGG... |
Task1_train_8013 | A sequence alteration has been identified in TP63 (tumor protein p63) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; TP63-Related Spectrum Disorders | TATCATCATTTATTAGGCACGTGAGTCCTTCTAAATATTGAAGTCAGTCTCCCTATTCCCAAATAAATGTTCCAAGGGTCACTCTTTCATTCACAGATTTGTGCATTTATCCACTTACCCTAAGTTTACTGAGCACCTACTCTGTGCCAGGCACTGTGCTAGGGACTGTAGGGATCTAGACACCTATAAGATCTAATCTCTGTGCTTGCACAGGTTAGTGAGGGAGACAGAAATATCACCCTCGAAGGCAAATACAAGGAAGAATATGTTAACATTAAGAGCAATTAGCAATTAGAGAATTAGAAGCAGAGAAAGGGGAG... | TATCATCATTTATTAGGCACGTGAGTCCTTCTAAATATTGAAGTCAGTCTCCCTATTCCCAAATAAATGTTCCAAGGGTCACTCTTTCATTCACAGATTTGTGCATTTATCCACTTACCCTAAGTTTACTGAGCACCTACTCTGTGCCAGGCACTGTGCTAGGGACTGTAGGGATCTAGACACCTATAAGATCTAATCTCTGTGCTTGCACAGGTTAGTGAGGGAGACAGAAATATCACCCTCGAAGGCAAATACAAGGAAGAATATGTTAACATTAAGAGCAATTAGCAATTAGAGAATTAGAAGCAGAGAAAGGGGAG... |
Task1_train_8014 | Consider this mutation in TP63 (tumor protein p63) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; TP63-Related Spectrum Disorders | AAATATTGAAGTCAGTCTCCCTATTCCCAAATAAATGTTCCAAGGGTCACTCTTTCATTCACAGATTTGTGCATTTATCCACTTACCCTAAGTTTACTGAGCACCTACTCTGTGCCAGGCACTGTGCTAGGGACTGTAGGGATCTAGACACCTATAAGATCTAATCTCTGTGCTTGCACAGGTTAGTGAGGGAGACAGAAATATCACCCTCGAAGGCAAATACAAGGAAGAATATGTTAACATTAAGAGCAATTAGCAATTAGAGAATTAGAAGCAGAGAAAGGGGAGGAAAGAGATTGTTCTCGGACAAGGTACAAAAG... | AAATATTGAAGTCAGTCTCCCTATTCCCAAATAAATGTTCCAAGGGTCACTCTTTCATTCACAGATTTGTGCATTTATCCACTTACCCTAAGTTTACTGAGCACCTACTCTGTGCCAGGCACTGTGCTAGGGACTGTAGGGATCTAGACACCTATAAGATCTAATCTCTGTGCTTGCACAGGTTAGTGAGGGAGACAGAAATATCACCCTCGAAGGCAAATACAAGGAAGAATATGTTAACATTAAGAGCAATTAGCAATTAGAGAATTAGAAGCAGAGAAAGGGGAGGAAAGAGATTGTTCTCGGACAAGGTACAAAAG... |
Task1_train_8015 | Located on Chromosome 3, this mutation impacts TP63 (tumor protein p63). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; TP63-related disorder | AAATATTGAAGTCAGTCTCCCTATTCCCAAATAAATGTTCCAAGGGTCACTCTTTCATTCACAGATTTGTGCATTTATCCACTTACCCTAAGTTTACTGAGCACCTACTCTGTGCCAGGCACTGTGCTAGGGACTGTAGGGATCTAGACACCTATAAGATCTAATCTCTGTGCTTGCACAGGTTAGTGAGGGAGACAGAAATATCACCCTCGAAGGCAAATACAAGGAAGAATATGTTAACATTAAGAGCAATTAGCAATTAGAGAATTAGAAGCAGAGAAAGGGGAGGAAAGAGATTGTTCTCGGACAAGGTACAAAAG... | AAATATTGAAGTCAGTCTCCCTATTCCCAAATAAATGTTCCAAGGGTCACTCTTTCATTCACAGATTTGTGCATTTATCCACTTACCCTAAGTTTACTGAGCACCTACTCTGTGCCAGGCACTGTGCTAGGGACTGTAGGGATCTAGACACCTATAAGATCTAATCTCTGTGCTTGCACAGGTTAGTGAGGGAGACAGAAATATCACCCTCGAAGGCAAATACAAGGAAGAATATGTTAACATTAAGAGCAATTAGCAATTAGAGAATTAGAAGCAGAGAAAGGGGAGGAAAGAGATTGTTCTCGGACAAGGTACAAAAG... |
Task1_train_8016 | The gene TP63 (tumor protein p63) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Rapp-Hodgkin syndrome | TCAGTCTCCCTATTCCCAAATAAATGTTCCAAGGGTCACTCTTTCATTCACAGATTTGTGCATTTATCCACTTACCCTAAGTTTACTGAGCACCTACTCTGTGCCAGGCACTGTGCTAGGGACTGTAGGGATCTAGACACCTATAAGATCTAATCTCTGTGCTTGCACAGGTTAGTGAGGGAGACAGAAATATCACCCTCGAAGGCAAATACAAGGAAGAATATGTTAACATTAAGAGCAATTAGCAATTAGAGAATTAGAAGCAGAGAAAGGGGAGGAAAGAGATTGTTCTCGGACAAGGTACAAAAGTCAAGAGGTGC... | TCAGTCTCCCTATTCCCAAATAAATGTTCCAAGGGTCACTCTTTCATTCACAGATTTGTGCATTTATCCACTTACCCTAAGTTTACTGAGCACCTACTCTGTGCCAGGCACTGTGCTAGGGACTGTAGGGATCTAGACACCTATAAGATCTAATCTCTGTGCTTGCACAGGTTAGTGAGGGAGACAGAAATATCACCCTCGAAGGCAAATACAAGGAAGAATATGTTAACATTAAGAGCAATTAGCAATTAGAGAATTAGAAGCAGAGAAAGGGGAGGAAAGAGATTGTTCTCGGACAAGGTACAAAAGTCAAGAGGTGC... |
Task1_train_8017 | Gene TP63 (tumor protein p63), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Rapp-Hodgkin syndrome | AATCTTCCTCTTCCCTATATTTTTAAAGTTATACTTTCCACTTGCTCACTTATTTCCACTGGGGAATGTGTCAGGATGTTCCCTTGATCATTAGGATCTGCAGATACCCTTTATAAGTTCATTTCTGCTGATGTTGACTAAGTCCTATGCCAATCTGTGGGCCACAGCTTTCTCACCTGTCAGTCATTAGTTAAAATCCATCCAGGGCATCATGACAATGAACAGAGTCTAATTTACAAAGAGCTTTGCATTTACTGAGAGCCTCAAAAGTATAAAGAATCCAAGAAACATAAAAAGCTATGCTTATTTAGGCCGGGCAT... | AATCTTCCTCTTCCCTATATTTTTAAAGTTATACTTTCCACTTGCTCACTTATTTCCACTGGGGAATGTGTCAGGATGTTCCCTTGATCATTAGGATCTGCAGATACCCTTTATAAGTTCATTTCTGCTGATGTTGACTAAGTCCTATGCCAATCTGTGGGCCACAGCTTTCTCACCTGTCAGTCATTAGTTAAAATCCATCCAGGGCATCATGACAATGAACAGAGTCTAATTTACAAAGAGCTTTGCATTTACTGAGAGCCTCAAAAGTATAAAGAATCCAAGAAACATAAAAAGCTATGCTTATTTAGGCCGGGCAT... |
Task1_train_8018 | Chromosome 3 houses a mutation in gene TP63 (tumor protein p63). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; TP63-Related Spectrum Disorders | CTTCCCTATATTTTTAAAGTTATACTTTCCACTTGCTCACTTATTTCCACTGGGGAATGTGTCAGGATGTTCCCTTGATCATTAGGATCTGCAGATACCCTTTATAAGTTCATTTCTGCTGATGTTGACTAAGTCCTATGCCAATCTGTGGGCCACAGCTTTCTCACCTGTCAGTCATTAGTTAAAATCCATCCAGGGCATCATGACAATGAACAGAGTCTAATTTACAAAGAGCTTTGCATTTACTGAGAGCCTCAAAAGTATAAAGAATCCAAGAAACATAAAAAGCTATGCTTATTTAGGCCGGGCATGGTGGCTCA... | CTTCCCTATATTTTTAAAGTTATACTTTCCACTTGCTCACTTATTTCCACTGGGGAATGTGTCAGGATGTTCCCTTGATCATTAGGATCTGCAGATACCCTTTATAAGTTCATTTCTGCTGATGTTGACTAAGTCCTATGCCAATCTGTGGGCCACAGCTTTCTCACCTGTCAGTCATTAGTTAAAATCCATCCAGGGCATCATGACAATGAACAGAGTCTAATTTACAAAGAGCTTTGCATTTACTGAGAGCCTCAAAAGTATAAAGAATCCAAGAAACATAAAAAGCTATGCTTATTTAGGCCGGGCATGGTGGCTCA... |
Task1_train_8019 | This sequence change occurs on Chromosome 3, altering TP63 (tumor protein p63). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Premature ovarian failure 21 | CCAATCTGTGGGCCACAGCTTTCTCACCTGTCAGTCATTAGTTAAAATCCATCCAGGGCATCATGACAATGAACAGAGTCTAATTTACAAAGAGCTTTGCATTTACTGAGAGCCTCAAAAGTATAAAGAATCCAAGAAACATAAAAAGCTATGCTTATTTAGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGACCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGTGCACCTCTG... | CCAATCTGTGGGCCACAGCTTTCTCACCTGTCAGTCATTAGTTAAAATCCATCCAGGGCATCATGACAATGAACAGAGTCTAATTTACAAAGAGCTTTGCATTTACTGAGAGCCTCAAAAGTATAAAGAATCCAAGAAACATAAAAAGCTATGCTTATTTAGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGACCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGTGCACCTCTG... |
Task1_train_8020 | The gene TP63 (tumor protein p63), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Premature ovarian insufficiency | CCAATCTGTGGGCCACAGCTTTCTCACCTGTCAGTCATTAGTTAAAATCCATCCAGGGCATCATGACAATGAACAGAGTCTAATTTACAAAGAGCTTTGCATTTACTGAGAGCCTCAAAAGTATAAAGAATCCAAGAAACATAAAAAGCTATGCTTATTTAGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGACCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGTGCACCTCTG... | CCAATCTGTGGGCCACAGCTTTCTCACCTGTCAGTCATTAGTTAAAATCCATCCAGGGCATCATGACAATGAACAGAGTCTAATTTACAAAGAGCTTTGCATTTACTGAGAGCCTCAAAAGTATAAAGAATCCAAGAAACATAAAAAGCTATGCTTATTTAGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGACCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGTGCACCTCTG... |
Task1_train_8021 | Gene P3H2 (prolyl 3-hydroxylase 2) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Myopia, high, with cataract and vitreoretinal degeneration | ATACCTATAGTCTCGAAATGTGTAAGCAGGAGGCTCCTTCCAGCATTCGTTGGCCTCTGGATCCAACAAACAGTTGTCAGCATGGATGGGATGACTGAGGTCATTTCTTCTATCCTGCTGACCTGCCAGAAAAGGGAATAGGGAAGAACGAGAAATGAAGTGCAGCAACTTCCACCAAAGTAACTGACAATCTCTCTTCTCCCAGTCCTGATGATCTTTGCAAATGGGCAGAGGCAGACAACAGGAAAGAACAGATAAAAGAACAGTGGACAAGTAGTTGAGATTCTGGTCTGGTTCTGATATGAACTGGATGTGAAACC... | ATACCTATAGTCTCGAAATGTGTAAGCAGGAGGCTCCTTCCAGCATTCGTTGGCCTCTGGATCCAACAAACAGTTGTCAGCATGGATGGGATGACTGAGGTCATTTCTTCTATCCTGCTGACCTGCCAGAAAAGGGAATAGGGAAGAACGAGAAATGAAGTGCAGCAACTTCCACCAAAGTAACTGACAATCTCTCTTCTCCCAGTCCTGATGATCTTTGCAAATGGGCAGAGGCAGACAACAGGAAAGAACAGATAAAAGAACAGTGGACAAGTAGTTGAGATTCTGGTCTGGTTCTGATATGAACTGGATGTGAAACC... |
Task1_train_8022 | This mutation is located in gene CLDN16 (claudin 16) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Primary hypomagnesemia | TTCCAACTGTTAAACAAAATAAGTAAAATAAAAGCATCTGTAATGTACCTCGCAGATAGTTATAACGATCGCTAATGTGTACAGTAATCACCCCTTCTCCTTGAGGAATATGTTCAAAGACCCTCAGTGGATGTCAGAAACGAAGGACAGTACTGGATCCTACACACACTATACGCAACAGTAGGTCAGATCACCGAGGCAGCTATTAAGTGACTAAGGGGTGGGTAGTGCATACAATGTGGAAATGCTGGCCAAAGGGATGATTCATATCCCATGTGAAGTGGGATGGCTTGAGATTTCATCACGCTATTCAGAACAGT... | TTCCAACTGTTAAACAAAATAAGTAAAATAAAAGCATCTGTAATGTACCTCGCAGATAGTTATAACGATCGCTAATGTGTACAGTAATCACCCCTTCTCCTTGAGGAATATGTTCAAAGACCCTCAGTGGATGTCAGAAACGAAGGACAGTACTGGATCCTACACACACTATACGCAACAGTAGGTCAGATCACCGAGGCAGCTATTAAGTGACTAAGGGGTGGGTAGTGCATACAATGTGGAAATGCTGGCCAAAGGGATGATTCATATCCCATGTGAAGTGGGATGGCTTGAGATTTCATCACGCTATTCAGAACAGT... |
Task1_train_8023 | This alteration occurs within gene CLDN16 (claudin 16) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Primary hypomagnesemia | TTCCAACTGTTAAACAAAATAAGTAAAATAAAAGCATCTGTAATGTACCTCGCAGATAGTTATAACGATCGCTAATGTGTACAGTAATCACCCCTTCTCCTTGAGGAATATGTTCAAAGACCCTCAGTGGATGTCAGAAACGAAGGACAGTACTGGATCCTACACACACTATACGCAACAGTAGGTCAGATCACCGAGGCAGCTATTAAGTGACTAAGGGGTGGGTAGTGCATACAATGTGGAAATGCTGGCCAAAGGGATGATTCATATCCCATGTGAAGTGGGATGGCTTGAGATTTCATCACGCTATTCAGAACAGT... | TTCCAACTGTTAAACAAAATAAGTAAAATAAAAGCATCTGTAATGTACCTCGCAGATAGTTATAACGATCGCTAATGTGTACAGTAATCACCCCTTCTCCTTGAGGAATATGTTCAAAGACCCTCAGTGGATGTCAGAAACGAAGGACAGTACTGGATCCTACACACACTATACGCAACAGTAGGTCAGATCACCGAGGCAGCTATTAAGTGACTAAGGGGTGGGTAGTGCATACAATGTGGAAATGCTGGCCAAAGGGATGATTCATATCCCATGTGAAGTGGGATGGCTTGAGATTTCATCACGCTATTCAGAACAGT... |
Task1_train_8024 | Here’s a variant in CLDN16 (claudin 16) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Primary hypomagnesemia | GCACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGATCCCGATCTCCTGACCTCTTGATCCGTCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGACCGAGATCAACTTCTTATAGCTTCCACATATGAGTAAAAATATGCAATGTTTAACTTTCTATTCCTGGCTTATTTCATTTAACATTATTCAGTTCCATCCATGCTGACTTAAATAAAAGAATTTCATTTTTTAAATTGTTAAATAGTATTCCATTGTGTAGATATACCATA... | GCACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGATCCCGATCTCCTGACCTCTTGATCCGTCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGACCGAGATCAACTTCTTATAGCTTCCACATATGAGTAAAAATATGCAATGTTTAACTTTCTATTCCTGGCTTATTTCATTTAACATTATTCAGTTCCATCCATGCTGACTTAAATAAAAGAATTTCATTTTTTAAATTGTTAAATAGTATTCCATTGTGTAGATATACCATA... |
Task1_train_8025 | The gene CLDN16 (claudin 16) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | AGGCTTACAGTAAATGGTTTTTTAATCGAAATAAACTCTTTAGGGTGCTGTAATTTCATTATTAAACTGGACGGGTTAGGGGGAAAGCATTTCAGAGATGTTTTAAGCTATGACTTAGTTCAAATAGAAAGTTTACAGTTATTTCAGTTGAAGGTTAGCTAAGAAAGAGAGAGTGGCAGAGGCAGAAAGAGGCAGACAGCCAGAGAGAGAGACATAGACTATGGGGATCAGTGGAAGAAAAAACCAACACATGTGACGCACTGTTACAGGCAATATTGAAGCTGGCTCCCTTATCTTCCTTACTTTTAGCTTTAAATTAT... | AGGCTTACAGTAAATGGTTTTTTAATCGAAATAAACTCTTTAGGGTGCTGTAATTTCATTATTAAACTGGACGGGTTAGGGGGAAAGCATTTCAGAGATGTTTTAAGCTATGACTTAGTTCAAATAGAAAGTTTACAGTTATTTCAGTTGAAGGTTAGCTAAGAAAGAGAGAGTGGCAGAGGCAGAAAGAGGCAGACAGCCAGAGAGAGAGACATAGACTATGGGGATCAGTGGAAGAAAAAACCAACACATGTGACGCACTGTTACAGGCAATATTGAAGCTGGCTCCCTTATCTTCCTTACTTTTAGCTTTAAATTAT... |
Task1_train_8026 | A mutation found in CLDN16 (claudin 16) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Primary hypomagnesemia | AATGGTTTTTTAATCGAAATAAACTCTTTAGGGTGCTGTAATTTCATTATTAAACTGGACGGGTTAGGGGGAAAGCATTTCAGAGATGTTTTAAGCTATGACTTAGTTCAAATAGAAAGTTTACAGTTATTTCAGTTGAAGGTTAGCTAAGAAAGAGAGAGTGGCAGAGGCAGAAAGAGGCAGACAGCCAGAGAGAGAGACATAGACTATGGGGATCAGTGGAAGAAAAAACCAACACATGTGACGCACTGTTACAGGCAATATTGAAGCTGGCTCCCTTATCTTCCTTACTTTTAGCTTTAAATTATAGTTAAAGCCAG... | AATGGTTTTTTAATCGAAATAAACTCTTTAGGGTGCTGTAATTTCATTATTAAACTGGACGGGTTAGGGGGAAAGCATTTCAGAGATGTTTTAAGCTATGACTTAGTTCAAATAGAAAGTTTACAGTTATTTCAGTTGAAGGTTAGCTAAGAAAGAGAGAGTGGCAGAGGCAGAAAGAGGCAGACAGCCAGAGAGAGAGACATAGACTATGGGGATCAGTGGAAGAAAAAACCAACACATGTGACGCACTGTTACAGGCAATATTGAAGCTGGCTCCCTTATCTTCCTTACTTTTAGCTTTAAATTATAGTTAAAGCCAG... |
Task1_train_8027 | This is a variant in CLDN16 (claudin 16), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Primary hypomagnesemia | TTTTTAATCGAAATAAACTCTTTAGGGTGCTGTAATTTCATTATTAAACTGGACGGGTTAGGGGGAAAGCATTTCAGAGATGTTTTAAGCTATGACTTAGTTCAAATAGAAAGTTTACAGTTATTTCAGTTGAAGGTTAGCTAAGAAAGAGAGAGTGGCAGAGGCAGAAAGAGGCAGACAGCCAGAGAGAGAGACATAGACTATGGGGATCAGTGGAAGAAAAAACCAACACATGTGACGCACTGTTACAGGCAATATTGAAGCTGGCTCCCTTATCTTCCTTACTTTTAGCTTTAAATTATAGTTAAAGCCAGGTGCAG... | TTTTTAATCGAAATAAACTCTTTAGGGTGCTGTAATTTCATTATTAAACTGGACGGGTTAGGGGGAAAGCATTTCAGAGATGTTTTAAGCTATGACTTAGTTCAAATAGAAAGTTTACAGTTATTTCAGTTGAAGGTTAGCTAAGAAAGAGAGAGTGGCAGAGGCAGAAAGAGGCAGACAGCCAGAGAGAGAGACATAGACTATGGGGATCAGTGGAAGAAAAAACCAACACATGTGACGCACTGTTACAGGCAATATTGAAGCTGGCTCCCTTATCTTCCTTACTTTTAGCTTTAAATTATAGTTAAAGCCAGGTGCAG... |
Task1_train_8028 | The gene CLDN16 (claudin 16) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Primary hypomagnesemia | TTTTAATCGAAATAAACTCTTTAGGGTGCTGTAATTTCATTATTAAACTGGACGGGTTAGGGGGAAAGCATTTCAGAGATGTTTTAAGCTATGACTTAGTTCAAATAGAAAGTTTACAGTTATTTCAGTTGAAGGTTAGCTAAGAAAGAGAGAGTGGCAGAGGCAGAAAGAGGCAGACAGCCAGAGAGAGAGACATAGACTATGGGGATCAGTGGAAGAAAAAACCAACACATGTGACGCACTGTTACAGGCAATATTGAAGCTGGCTCCCTTATCTTCCTTACTTTTAGCTTTAAATTATAGTTAAAGCCAGGTGCAGT... | TTTTAATCGAAATAAACTCTTTAGGGTGCTGTAATTTCATTATTAAACTGGACGGGTTAGGGGGAAAGCATTTCAGAGATGTTTTAAGCTATGACTTAGTTCAAATAGAAAGTTTACAGTTATTTCAGTTGAAGGTTAGCTAAGAAAGAGAGAGTGGCAGAGGCAGAAAGAGGCAGACAGCCAGAGAGAGAGACATAGACTATGGGGATCAGTGGAAGAAAAAACCAACACATGTGACGCACTGTTACAGGCAATATTGAAGCTGGCTCCCTTATCTTCCTTACTTTTAGCTTTAAATTATAGTTAAAGCCAGGTGCAGT... |
Task1_train_8029 | Given this context: Chromosome 3, gene CLDN16 (claudin 16) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Primary hypomagnesemia | CTGGACGGGTTAGGGGGAAAGCATTTCAGAGATGTTTTAAGCTATGACTTAGTTCAAATAGAAAGTTTACAGTTATTTCAGTTGAAGGTTAGCTAAGAAAGAGAGAGTGGCAGAGGCAGAAAGAGGCAGACAGCCAGAGAGAGAGACATAGACTATGGGGATCAGTGGAAGAAAAAACCAACACATGTGACGCACTGTTACAGGCAATATTGAAGCTGGCTCCCTTATCTTCCTTACTTTTAGCTTTAAATTATAGTTAAAGCCAGGTGCAGTGGCTCACACTTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGA... | CTGGACGGGTTAGGGGGAAAGCATTTCAGAGATGTTTTAAGCTATGACTTAGTTCAAATAGAAAGTTTACAGTTATTTCAGTTGAAGGTTAGCTAAGAAAGAGAGAGTGGCAGAGGCAGAAAGAGGCAGACAGCCAGAGAGAGAGACATAGACTATGGGGATCAGTGGAAGAAAAAACCAACACATGTGACGCACTGTTACAGGCAATATTGAAGCTGGCTCCCTTATCTTCCTTACTTTTAGCTTTAAATTATAGTTAAAGCCAGGTGCAGTGGCTCACACTTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGA... |
Task1_train_8030 | This sequence variant lies in CLDN16 (claudin 16) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Primary hypomagnesemia | GTTATTTCAGTTGAAGGTTAGCTAAGAAAGAGAGAGTGGCAGAGGCAGAAAGAGGCAGACAGCCAGAGAGAGAGACATAGACTATGGGGATCAGTGGAAGAAAAAACCAACACATGTGACGCACTGTTACAGGCAATATTGAAGCTGGCTCCCTTATCTTCCTTACTTTTAGCTTTAAATTATAGTTAAAGCCAGGTGCAGTGGCTCACACTTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTGGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCCCTAATAAAATTACCAA... | GTTATTTCAGTTGAAGGTTAGCTAAGAAAGAGAGAGTGGCAGAGGCAGAAAGAGGCAGACAGCCAGAGAGAGAGACATAGACTATGGGGATCAGTGGAAGAAAAAACCAACACATGTGACGCACTGTTACAGGCAATATTGAAGCTGGCTCCCTTATCTTCCTTACTTTTAGCTTTAAATTATAGTTAAAGCCAGGTGCAGTGGCTCACACTTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTGGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCCCTAATAAAATTACCAA... |
Task1_train_8031 | Here’s a variant in CLDN16 (claudin 16) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Primary hypomagnesemia | CAAAAATTTAGAATTCTTCCCTTCTGTAAGTCATTTATTTAATTATCCCACCTACTGACAGCATAGAACTTTTTAATATACAATGTAATTCATTTAACAGATTTAAACATTATTTAATCTAATTATTTACGGCTATATAATTTTGTTCGAGAATATTTTTGAGCTATCATCAGTAAATAACCCATCTTATGTAAAACAACAAAACAAATAGCATTTAAAAAATAAGTCACTGAAGAAAATCCTGATAGGAATGACTGAAGAAATAACTAAATTGAAAGACAAAGCATGTCCTAAGCTTTGGAAACTTTAGAATTAGTGTG... | CAAAAATTTAGAATTCTTCCCTTCTGTAAGTCATTTATTTAATTATCCCACCTACTGACAGCATAGAACTTTTTAATATACAATGTAATTCATTTAACAGATTTAAACATTATTTAATCTAATTATTTACGGCTATATAATTTTGTTCGAGAATATTTTTGAGCTATCATCAGTAAATAACCCATCTTATGTAAAACAACAAAACAAATAGCATTTAAAAAATAAGTCACTGAAGAAAATCCTGATAGGAATGACTGAAGAAATAACTAAATTGAAAGACAAAGCATGTCCTAAGCTTTGGAAACTTTAGAATTAGTGTG... |
Task1_train_8032 | This genomic variant is located on Chromosome 3, within the CLDN16 (claudin 16) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Primary hypomagnesemia | CATAGAACTTTTTAATATACAATGTAATTCATTTAACAGATTTAAACATTATTTAATCTAATTATTTACGGCTATATAATTTTGTTCGAGAATATTTTTGAGCTATCATCAGTAAATAACCCATCTTATGTAAAACAACAAAACAAATAGCATTTAAAAAATAAGTCACTGAAGAAAATCCTGATAGGAATGACTGAAGAAATAACTAAATTGAAAGACAAAGCATGTCCTAAGCTTTGGAAACTTTAGAATTAGTGTGCTATAAAATTTATTTTTAAAGTCTATAATCTGTTTTGAAGGTTTAGAAAGGGAATTTCTAA... | CATAGAACTTTTTAATATACAATGTAATTCATTTAACAGATTTAAACATTATTTAATCTAATTATTTACGGCTATATAATTTTGTTCGAGAATATTTTTGAGCTATCATCAGTAAATAACCCATCTTATGTAAAACAACAAAACAAATAGCATTTAAAAAATAAGTCACTGAAGAAAATCCTGATAGGAATGACTGAAGAAATAACTAAATTGAAAGACAAAGCATGTCCTAAGCTTTGGAAACTTTAGAATTAGTGTGCTATAAAATTTATTTTTAAAGTCTATAATCTGTTTTGAAGGTTTAGAAAGGGAATTTCTAA... |
Task1_train_8033 | This variant affects gene CLDN16 (claudin 16) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Primary hypomagnesemia | ACAGATTTAAACATTATTTAATCTAATTATTTACGGCTATATAATTTTGTTCGAGAATATTTTTGAGCTATCATCAGTAAATAACCCATCTTATGTAAAACAACAAAACAAATAGCATTTAAAAAATAAGTCACTGAAGAAAATCCTGATAGGAATGACTGAAGAAATAACTAAATTGAAAGACAAAGCATGTCCTAAGCTTTGGAAACTTTAGAATTAGTGTGCTATAAAATTTATTTTTAAAGTCTATAATCTGTTTTGAAGGTTTAGAAAGGGAATTTCTAACTGAAAACTGCAGATAATGGCATTATAGCAATGCT... | ACAGATTTAAACATTATTTAATCTAATTATTTACGGCTATATAATTTTGTTCGAGAATATTTTTGAGCTATCATCAGTAAATAACCCATCTTATGTAAAACAACAAAACAAATAGCATTTAAAAAATAAGTCACTGAAGAAAATCCTGATAGGAATGACTGAAGAAATAACTAAATTGAAAGACAAAGCATGTCCTAAGCTTTGGAAACTTTAGAATTAGTGTGCTATAAAATTTATTTTTAAAGTCTATAATCTGTTTTGAAGGTTTAGAAAGGGAATTTCTAACTGAAAACTGCAGATAATGGCATTATAGCAATGCT... |
Task1_train_8034 | An alteration has been detected in CLDN16 (claudin 16) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Primary hypomagnesemia | TTAAACATTATTTAATCTAATTATTTACGGCTATATAATTTTGTTCGAGAATATTTTTGAGCTATCATCAGTAAATAACCCATCTTATGTAAAACAACAAAACAAATAGCATTTAAAAAATAAGTCACTGAAGAAAATCCTGATAGGAATGACTGAAGAAATAACTAAATTGAAAGACAAAGCATGTCCTAAGCTTTGGAAACTTTAGAATTAGTGTGCTATAAAATTTATTTTTAAAGTCTATAATCTGTTTTGAAGGTTTAGAAAGGGAATTTCTAACTGAAAACTGCAGATAATGGCATTATAGCAATGCTATTGCA... | TTAAACATTATTTAATCTAATTATTTACGGCTATATAATTTTGTTCGAGAATATTTTTGAGCTATCATCAGTAAATAACCCATCTTATGTAAAACAACAAAACAAATAGCATTTAAAAAATAAGTCACTGAAGAAAATCCTGATAGGAATGACTGAAGAAATAACTAAATTGAAAGACAAAGCATGTCCTAAGCTTTGGAAACTTTAGAATTAGTGTGCTATAAAATTTATTTTTAAAGTCTATAATCTGTTTTGAAGGTTTAGAAAGGGAATTTCTAACTGAAAACTGCAGATAATGGCATTATAGCAATGCTATTGCA... |
Task1_train_8035 | A mutation found in CLDN16 (claudin 16) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Primary hypomagnesemia | TTAATCTAATTATTTACGGCTATATAATTTTGTTCGAGAATATTTTTGAGCTATCATCAGTAAATAACCCATCTTATGTAAAACAACAAAACAAATAGCATTTAAAAAATAAGTCACTGAAGAAAATCCTGATAGGAATGACTGAAGAAATAACTAAATTGAAAGACAAAGCATGTCCTAAGCTTTGGAAACTTTAGAATTAGTGTGCTATAAAATTTATTTTTAAAGTCTATAATCTGTTTTGAAGGTTTAGAAAGGGAATTTCTAACTGAAAACTGCAGATAATGGCATTATAGCAATGCTATTGCAATATATACTGC... | TTAATCTAATTATTTACGGCTATATAATTTTGTTCGAGAATATTTTTGAGCTATCATCAGTAAATAACCCATCTTATGTAAAACAACAAAACAAATAGCATTTAAAAAATAAGTCACTGAAGAAAATCCTGATAGGAATGACTGAAGAAATAACTAAATTGAAAGACAAAGCATGTCCTAAGCTTTGGAAACTTTAGAATTAGTGTGCTATAAAATTTATTTTTAAAGTCTATAATCTGTTTTGAAGGTTTAGAAAGGGAATTTCTAACTGAAAACTGCAGATAATGGCATTATAGCAATGCTATTGCAATATATACTGC... |
Task1_train_8036 | The gene CLDN16 (claudin 16) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING | GTATTTTCCTTTATACAATACTAACATGGCATTGGAAAGACAGGAGAATCAAAGAAAACCATAACGATGAATTTCGATTTACACAGATAAGCACTGTGTTATTTCATTTTTGCATTTTCTTTATGTATAAACTGAGATAAAATTTAAAAAAGATACAAGATGGAAGGCAAAAGGAAGAGACAGAAGAAGTGTCCGAAGTTCGGGTTGCCCATGAATCCATGTTACTGTTTTTACCTCTCTGAATCACGCCAGCCATTTTGTGTAGTAAGCAGGTATTTTTGGATTTAAATTCAGAAAATGTCCCCTATTATTTGTAGCAT... | GTATTTTCCTTTATACAATACTAACATGGCATTGGAAAGACAGGAGAATCAAAGAAAACCATAACGATGAATTTCGATTTACACAGATAAGCACTGTGTTATTTCATTTTTGCATTTTCTTTATGTATAAACTGAGATAAAATTTAAAAAAGATACAAGATGGAAGGCAAAAGGAAGAGACAGAAGAAGTGTCCGAAGTTCGGGTTGCCCATGAATCCATGTTACTGTTTTTACCTCTCTGAATCACGCCAGCCATTTTGTGTAGTAAGCAGGTATTTTTGGATTTAAATTCAGAAAATGTCCCCTATTATTTGTAGCAT... |
Task1_train_8037 | A variant has been detected on Chromosome 3 in FGF12 (fibroblast growth factor 12). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Developmental and epileptic encephalopathy, 47 | TAACTAGAAATATTCAAAATAACATCCTCTTGCCTTTTTTAATTTTAATTCTTACATTTAAAATAGACTCACAATAACTGGACATTAAGAATTGTTAGAGCTGTGACACACTAAGAGAGCCCATTATTTTGACTGAAAATGTATTTAATTGTTATTTTAAGCAGAAACTTTGAAAAAAGGTATATGTACACATATAGCATATTTATAGTGTAAATACAAAATATAGTGTATATTTTGATCTGAATATTTTCAGGAGTAAAAAAAATAATTGTAATACAAATGACAGATGTATTACTAATAAGCAAGTATGATGTACCTGT... | TAACTAGAAATATTCAAAATAACATCCTCTTGCCTTTTTTAATTTTAATTCTTACATTTAAAATAGACTCACAATAACTGGACATTAAGAATTGTTAGAGCTGTGACACACTAAGAGAGCCCATTATTTTGACTGAAAATGTATTTAATTGTTATTTTAAGCAGAAACTTTGAAAAAAGGTATATGTACACATATAGCATATTTATAGTGTAAATACAAAATATAGTGTATATTTTGATCTGAATATTTTCAGGAGTAAAAAAAATAATTGTAATACAAATGACAGATGTATTACTAATAAGCAAGTATGATGTACCTGT... |
Task1_train_8038 | Here’s a variant in FGF12 (fibroblast growth factor 12) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Seizure | TAACTAGAAATATTCAAAATAACATCCTCTTGCCTTTTTTAATTTTAATTCTTACATTTAAAATAGACTCACAATAACTGGACATTAAGAATTGTTAGAGCTGTGACACACTAAGAGAGCCCATTATTTTGACTGAAAATGTATTTAATTGTTATTTTAAGCAGAAACTTTGAAAAAAGGTATATGTACACATATAGCATATTTATAGTGTAAATACAAAATATAGTGTATATTTTGATCTGAATATTTTCAGGAGTAAAAAAAATAATTGTAATACAAATGACAGATGTATTACTAATAAGCAAGTATGATGTACCTGT... | TAACTAGAAATATTCAAAATAACATCCTCTTGCCTTTTTTAATTTTAATTCTTACATTTAAAATAGACTCACAATAACTGGACATTAAGAATTGTTAGAGCTGTGACACACTAAGAGAGCCCATTATTTTGACTGAAAATGTATTTAATTGTTATTTTAAGCAGAAACTTTGAAAAAAGGTATATGTACACATATAGCATATTTATAGTGTAAATACAAAATATAGTGTATATTTTGATCTGAATATTTTCAGGAGTAAAAAAAATAATTGTAATACAAATGACAGATGTATTACTAATAAGCAAGTATGATGTACCTGT... |
Task1_train_8039 | Gene OPA1 (OPA1 mitochondrial dynamin like GTPase), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | CACTTTTCTTCTAAGGAGAGCTTTCTTAGGCATTTCAAAGAACTTTCGAAAAAGTGTGTGCTGGTATTGTTACTATCAGCACATTGGTGAACTTATTTACCAATAAATCAAGTCTTACTATTCCCCACCCAACTAAACCACATGTGCTAAATTGAATTGAAACAATTATTTAACTTAAATCTCATATAAGTAAGCAGAGTTTATATGTAGCAAAACTGCAGTAAATCATGGCATGTACATTCTGTAGTCAAGGTCCAAAGATAATACAGTTCTAGCTTAACAAACATGCATTAGTAGCTTTGACTATAAATCATGACTGC... | CACTTTTCTTCTAAGGAGAGCTTTCTTAGGCATTTCAAAGAACTTTCGAAAAAGTGTGTGCTGGTATTGTTACTATCAGCACATTGGTGAACTTATTTACCAATAAATCAAGTCTTACTATTCCCCACCCAACTAAACCACATGTGCTAAATTGAATTGAAACAATTATTTAACTTAAATCTCATATAAGTAAGCAGAGTTTATATGTAGCAAAACTGCAGTAAATCATGGCATGTACATTCTGTAGTCAAGGTCCAAAGATAATACAGTTCTAGCTTAACAAACATGCATTAGTAGCTTTGACTATAAATCATGACTGC... |
Task1_train_8040 | The gene OPA1 (OPA1 mitochondrial dynamin like GTPase) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | TGGTGAACTTATTTACCAATAAATCAAGTCTTACTATTCCCCACCCAACTAAACCACATGTGCTAAATTGAATTGAAACAATTATTTAACTTAAATCTCATATAAGTAAGCAGAGTTTATATGTAGCAAAACTGCAGTAAATCATGGCATGTACATTCTGTAGTCAAGGTCCAAAGATAATACAGTTCTAGCTTAACAAACATGCATTAGTAGCTTTGACTATAAATCATGACTGCATAAAACAGATAACATGACTATTTACAAGTGGCACTTAGAACTGAGAAAAGTCATTTCCAAGTGCTAATATATGTAGAGTTTAC... | TGGTGAACTTATTTACCAATAAATCAAGTCTTACTATTCCCCACCCAACTAAACCACATGTGCTAAATTGAATTGAAACAATTATTTAACTTAAATCTCATATAAGTAAGCAGAGTTTATATGTAGCAAAACTGCAGTAAATCATGGCATGTACATTCTGTAGTCAAGGTCCAAAGATAATACAGTTCTAGCTTAACAAACATGCATTAGTAGCTTTGACTATAAATCATGACTGCATAAAACAGATAACATGACTATTTACAAGTGGCACTTAGAACTGAGAAAAGTCATTTCCAAGTGCTAATATATGTAGAGTTTAC... |
Task1_train_8041 | This variant affects the gene OPA1 (OPA1 mitochondrial dynamin like GTPase) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | TGGTGAACTTATTTACCAATAAATCAAGTCTTACTATTCCCCACCCAACTAAACCACATGTGCTAAATTGAATTGAAACAATTATTTAACTTAAATCTCATATAAGTAAGCAGAGTTTATATGTAGCAAAACTGCAGTAAATCATGGCATGTACATTCTGTAGTCAAGGTCCAAAGATAATACAGTTCTAGCTTAACAAACATGCATTAGTAGCTTTGACTATAAATCATGACTGCATAAAACAGATAACATGACTATTTACAAGTGGCACTTAGAACTGAGAAAAGTCATTTCCAAGTGCTAATATATGTAGAGTTTAC... | TGGTGAACTTATTTACCAATAAATCAAGTCTTACTATTCCCCACCCAACTAAACCACATGTGCTAAATTGAATTGAAACAATTATTTAACTTAAATCTCATATAAGTAAGCAGAGTTTATATGTAGCAAAACTGCAGTAAATCATGGCATGTACATTCTGTAGTCAAGGTCCAAAGATAATACAGTTCTAGCTTAACAAACATGCATTAGTAGCTTTGACTATAAATCATGACTGCATAAAACAGATAACATGACTATTTACAAGTGGCACTTAGAACTGAGAAAAGTCATTTCCAAGTGCTAATATATGTAGAGTTTAC... |
Task1_train_8042 | Here is a genetic alteration in OPA1 (OPA1 mitochondrial dynamin like GTPase) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | AGCATTTTAACCTCCTTAGCAGCTTCTTTCTGCTTGGTTTCCTAAAATGTGAATGCCGTGAAAGGAAATTGTGCGCAGGATGTAGGGTTTTGTTTTGTTTTGGAGGTTTATTTCTGCAGTTCATTTTTCTTTGGGATTGTGGCACCTTAAGACGTGACTACTTAATAACTCGGAATTCCAATCTTGTCTACTCAACCCAGTGAAACTGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATT... | AGCATTTTAACCTCCTTAGCAGCTTCTTTCTGCTTGGTTTCCTAAAATGTGAATGCCGTGAAAGGAAATTGTGCGCAGGATGTAGGGTTTTGTTTTGTTTTGGAGGTTTATTTCTGCAGTTCATTTTTCTTTGGGATTGTGGCACCTTAAGACGTGACTACTTAATAACTCGGAATTCCAATCTTGTCTACTCAACCCAGTGAAACTGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATT... |
Task1_train_8043 | Assess the clinical impact of this variant on gene OPA1 (OPA1 mitochondrial dynamin like GTPase), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | AGCATTTTAACCTCCTTAGCAGCTTCTTTCTGCTTGGTTTCCTAAAATGTGAATGCCGTGAAAGGAAATTGTGCGCAGGATGTAGGGTTTTGTTTTGTTTTGGAGGTTTATTTCTGCAGTTCATTTTTCTTTGGGATTGTGGCACCTTAAGACGTGACTACTTAATAACTCGGAATTCCAATCTTGTCTACTCAACCCAGTGAAACTGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATT... | AGCATTTTAACCTCCTTAGCAGCTTCTTTCTGCTTGGTTTCCTAAAATGTGAATGCCGTGAAAGGAAATTGTGCGCAGGATGTAGGGTTTTGTTTTGTTTTGGAGGTTTATTTCTGCAGTTCATTTTTCTTTGGGATTGTGGCACCTTAAGACGTGACTACTTAATAACTCGGAATTCCAATCTTGTCTACTCAACCCAGTGAAACTGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATT... |
Task1_train_8044 | Here is a genetic alteration in OPA1 (OPA1 mitochondrial dynamin like GTPase) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | CTCCTTAGCAGCTTCTTTCTGCTTGGTTTCCTAAAATGTGAATGCCGTGAAAGGAAATTGTGCGCAGGATGTAGGGTTTTGTTTTGTTTTGGAGGTTTATTTCTGCAGTTCATTTTTCTTTGGGATTGTGGCACCTTAAGACGTGACTACTTAATAACTCGGAATTCCAATCTTGTCTACTCAACCCAGTGAAACTGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATTTAGCCTGTTTA... | CTCCTTAGCAGCTTCTTTCTGCTTGGTTTCCTAAAATGTGAATGCCGTGAAAGGAAATTGTGCGCAGGATGTAGGGTTTTGTTTTGTTTTGGAGGTTTATTTCTGCAGTTCATTTTTCTTTGGGATTGTGGCACCTTAAGACGTGACTACTTAATAACTCGGAATTCCAATCTTGTCTACTCAACCCAGTGAAACTGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATTTAGCCTGTTTA... |
Task1_train_8045 | This variant affects the gene OPA1 (OPA1 mitochondrial dynamin like GTPase) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | AGCAGCTTCTTTCTGCTTGGTTTCCTAAAATGTGAATGCCGTGAAAGGAAATTGTGCGCAGGATGTAGGGTTTTGTTTTGTTTTGGAGGTTTATTTCTGCAGTTCATTTTTCTTTGGGATTGTGGCACCTTAAGACGTGACTACTTAATAACTCGGAATTCCAATCTTGTCTACTCAACCCAGTGAAACTGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATTTAGCCTGTTTAGCTAAT... | AGCAGCTTCTTTCTGCTTGGTTTCCTAAAATGTGAATGCCGTGAAAGGAAATTGTGCGCAGGATGTAGGGTTTTGTTTTGTTTTGGAGGTTTATTTCTGCAGTTCATTTTTCTTTGGGATTGTGGCACCTTAAGACGTGACTACTTAATAACTCGGAATTCCAATCTTGTCTACTCAACCCAGTGAAACTGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATTTAGCCTGTTTAGCTAAT... |
Task1_train_8046 | A variant on Chromosome 3 in gene OPA1 (OPA1 mitochondrial dynamin like GTPase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | TGGCACCTTAAGACGTGACTACTTAATAACTCGGAATTCCAATCTTGTCTACTCAACCCAGTGAAACTGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATTTAGCCTGTTTAGCTAATCTCAGTAGAAGGAATTGTATTTTTAAAGTAAAATAACTATAGAGAAGCTAGAAAGGTGTCAATTAGGCATTTAGAAGTTCTTGTGAAACCACTGACTGTTAATATACATTGCTATAACATTT... | TGGCACCTTAAGACGTGACTACTTAATAACTCGGAATTCCAATCTTGTCTACTCAACCCAGTGAAACTGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATTTAGCCTGTTTAGCTAATCTCAGTAGAAGGAATTGTATTTTTAAAGTAAAATAACTATAGAGAAGCTAGAAAGGTGTCAATTAGGCATTTAGAAGTTCTTGTGAAACCACTGACTGTTAATATACATTGCTATAACATTT... |
Task1_train_8047 | A variant affecting Chromosome 3, within the gene OPA1 (OPA1 mitochondrial dynamin like GTPase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal dominant optic atrophy classic form | CTCAACCCAGTGAAACTGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATTTAGCCTGTTTAGCTAATCTCAGTAGAAGGAATTGTATTTTTAAAGTAAAATAACTATAGAGAAGCTAGAAAGGTGTCAATTAGGCATTTAGAAGTTCTTGTGAAACCACTGACTGTTAATATACATTGCTATAACATTTCTTGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCT... | CTCAACCCAGTGAAACTGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATTTAGCCTGTTTAGCTAATCTCAGTAGAAGGAATTGTATTTTTAAAGTAAAATAACTATAGAGAAGCTAGAAAGGTGTCAATTAGGCATTTAGAAGTTCTTGTGAAACCACTGACTGTTAATATACATTGCTATAACATTTCTTGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCT... |
Task1_train_8048 | A mutation on Chromosome 3 affecting OPA1 (OPA1 mitochondrial dynamin like GTPase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | TGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATTTAGCCTGTTTAGCTAATCTCAGTAGAAGGAATTGTATTTTTAAAGTAAAATAACTATAGAGAAGCTAGAAAGGTGTCAATTAGGCATTTAGAAGTTCTTGTGAAACCACTGACTGTTAATATACATTGCTATAACATTTCTTGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGCGGATCAC... | TGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATTTAGCCTGTTTAGCTAATCTCAGTAGAAGGAATTGTATTTTTAAAGTAAAATAACTATAGAGAAGCTAGAAAGGTGTCAATTAGGCATTTAGAAGTTCTTGTGAAACCACTGACTGTTAATATACATTGCTATAACATTTCTTGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGCGGATCAC... |
Task1_train_8049 | An alteration has been detected in OPA1 (OPA1 mitochondrial dynamin like GTPase) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | CAACATGGCGAAACCCTGTCTCTACTAAAAGTACAAAAAACTTGCCAGGTGTGGTGGCGGGCATCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAAACCGCGAAGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTTCAGCCTGGGCGACAGAATGAGACTCGGTCTCAAAACAAACAAAAAAACAAACAAAACAAAATTTCTTACCCAAATATCACTCCTTGAGTGAAGCCTGTCGTAGCTCCCTTATCATCAGTTCCATTCTCTTCTGTGGCACCCTAGGTTTTGTCACTCTCTTCT... | CAACATGGCGAAACCCTGTCTCTACTAAAAGTACAAAAAACTTGCCAGGTGTGGTGGCGGGCATCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAAACCGCGAAGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTTCAGCCTGGGCGACAGAATGAGACTCGGTCTCAAAACAAACAAAAAAACAAACAAAACAAAATTTCTTACCCAAATATCACTCCTTGAGTGAAGCCTGTCGTAGCTCCCTTATCATCAGTTCCATTCTCTTCTGTGGCACCCTAGGTTTTGTCACTCTCTTCT... |
Task1_train_8050 | Gene OPA1 (OPA1 mitochondrial dynamin like GTPase) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | CATGGCGAAACCCTGTCTCTACTAAAAGTACAAAAAACTTGCCAGGTGTGGTGGCGGGCATCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAAACCGCGAAGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTTCAGCCTGGGCGACAGAATGAGACTCGGTCTCAAAACAAACAAAAAAACAAACAAAACAAAATTTCTTACCCAAATATCACTCCTTGAGTGAAGCCTGTCGTAGCTCCCTTATCATCAGTTCCATTCTCTTCTGTGGCACCCTAGGTTTTGTCACTCTCTTCTATT... | CATGGCGAAACCCTGTCTCTACTAAAAGTACAAAAAACTTGCCAGGTGTGGTGGCGGGCATCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAAACCGCGAAGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTTCAGCCTGGGCGACAGAATGAGACTCGGTCTCAAAACAAACAAAAAAACAAACAAAACAAAATTTCTTACCCAAATATCACTCCTTGAGTGAAGCCTGTCGTAGCTCCCTTATCATCAGTTCCATTCTCTTCTGTGGCACCCTAGGTTTTGTCACTCTCTTCTATT... |
Task1_train_8051 | A genetic alteration is present in OPA1 (OPA1 mitochondrial dynamin like GTPase) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Centronuclear myopathy | CTACTAAAAGTACAAAAAACTTGCCAGGTGTGGTGGCGGGCATCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAAACCGCGAAGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTTCAGCCTGGGCGACAGAATGAGACTCGGTCTCAAAACAAACAAAAAAACAAACAAAACAAAATTTCTTACCCAAATATCACTCCTTGAGTGAAGCCTGTCGTAGCTCCCTTATCATCAGTTCCATTCTCTTCTGTGGCACCCTAGGTTTTGTCACTCTCTTCTATTATGTCTGTGTATATTTCT... | CTACTAAAAGTACAAAAAACTTGCCAGGTGTGGTGGCGGGCATCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAAACCGCGAAGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTTCAGCCTGGGCGACAGAATGAGACTCGGTCTCAAAACAAACAAAAAAACAAACAAAACAAAATTTCTTACCCAAATATCACTCCTTGAGTGAAGCCTGTCGTAGCTCCCTTATCATCAGTTCCATTCTCTTCTGTGGCACCCTAGGTTTTGTCACTCTCTTCTATTATGTCTGTGTATATTTCT... |
Task1_train_8052 | A variant affecting Chromosome 3, within the gene OPA1 (OPA1 mitochondrial dynamin like GTPase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal dominant optic atrophy classic form | CTACTAAAAGTACAAAAAACTTGCCAGGTGTGGTGGCGGGCATCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAAACCGCGAAGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTTCAGCCTGGGCGACAGAATGAGACTCGGTCTCAAAACAAACAAAAAAACAAACAAAACAAAATTTCTTACCCAAATATCACTCCTTGAGTGAAGCCTGTCGTAGCTCCCTTATCATCAGTTCCATTCTCTTCTGTGGCACCCTAGGTTTTGTCACTCTCTTCTATTATGTCTGTGTATATTTCT... | CTACTAAAAGTACAAAAAACTTGCCAGGTGTGGTGGCGGGCATCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAAACCGCGAAGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTTCAGCCTGGGCGACAGAATGAGACTCGGTCTCAAAACAAACAAAAAAACAAACAAAACAAAATTTCTTACCCAAATATCACTCCTTGAGTGAAGCCTGTCGTAGCTCCCTTATCATCAGTTCCATTCTCTTCTGTGGCACCCTAGGTTTTGTCACTCTCTTCTATTATGTCTGTGTATATTTCT... |
Task1_train_8053 | An alteration has been detected in OPA1 (OPA1 mitochondrial dynamin like GTPase) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Optic atrophy | CTACTAAAAGTACAAAAAACTTGCCAGGTGTGGTGGCGGGCATCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAAACCGCGAAGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTTCAGCCTGGGCGACAGAATGAGACTCGGTCTCAAAACAAACAAAAAAACAAACAAAACAAAATTTCTTACCCAAATATCACTCCTTGAGTGAAGCCTGTCGTAGCTCCCTTATCATCAGTTCCATTCTCTTCTGTGGCACCCTAGGTTTTGTCACTCTCTTCTATTATGTCTGTGTATATTTCT... | CTACTAAAAGTACAAAAAACTTGCCAGGTGTGGTGGCGGGCATCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAAACCGCGAAGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTTCAGCCTGGGCGACAGAATGAGACTCGGTCTCAAAACAAACAAAAAAACAAACAAAACAAAATTTCTTACCCAAATATCACTCCTTGAGTGAAGCCTGTCGTAGCTCCCTTATCATCAGTTCCATTCTCTTCTGTGGCACCCTAGGTTTTGTCACTCTCTTCTATTATGTCTGTGTATATTTCT... |
Task1_train_8054 | This sequence change occurs on Chromosome 3, altering OPA1 (OPA1 mitochondrial dynamin like GTPase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; OPA1-related disorder | CTACTAAAAGTACAAAAAACTTGCCAGGTGTGGTGGCGGGCATCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAAACCGCGAAGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTTCAGCCTGGGCGACAGAATGAGACTCGGTCTCAAAACAAACAAAAAAACAAACAAAACAAAATTTCTTACCCAAATATCACTCCTTGAGTGAAGCCTGTCGTAGCTCCCTTATCATCAGTTCCATTCTCTTCTGTGGCACCCTAGGTTTTGTCACTCTCTTCTATTATGTCTGTGTATATTTCT... | CTACTAAAAGTACAAAAAACTTGCCAGGTGTGGTGGCGGGCATCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAAACCGCGAAGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTTCAGCCTGGGCGACAGAATGAGACTCGGTCTCAAAACAAACAAAAAAACAAACAAAACAAAATTTCTTACCCAAATATCACTCCTTGAGTGAAGCCTGTCGTAGCTCCCTTATCATCAGTTCCATTCTCTTCTGTGGCACCCTAGGTTTTGTCACTCTCTTCTATTATGTCTGTGTATATTTCT... |
Task1_train_8055 | This sequence variant lies in OPA1 (OPA1 mitochondrial dynamin like GTPase) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Inborn genetic diseases | CTACTAAAAGTACAAAAAACTTGCCAGGTGTGGTGGCGGGCATCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAAACCGCGAAGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTTCAGCCTGGGCGACAGAATGAGACTCGGTCTCAAAACAAACAAAAAAACAAACAAAACAAAATTTCTTACCCAAATATCACTCCTTGAGTGAAGCCTGTCGTAGCTCCCTTATCATCAGTTCCATTCTCTTCTGTGGCACCCTAGGTTTTGTCACTCTCTTCTATTATGTCTGTGTATATTTCT... | CTACTAAAAGTACAAAAAACTTGCCAGGTGTGGTGGCGGGCATCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAAACCGCGAAGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTTCAGCCTGGGCGACAGAATGAGACTCGGTCTCAAAACAAACAAAAAAACAAACAAAACAAAATTTCTTACCCAAATATCACTCCTTGAGTGAAGCCTGTCGTAGCTCCCTTATCATCAGTTCCATTCTCTTCTGTGGCACCCTAGGTTTTGTCACTCTCTTCTATTATGTCTGTGTATATTTCT... |
Task1_train_8056 | Here’s a variant in OPA1 (OPA1 mitochondrial dynamin like GTPase) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal dominant optic atrophy classic form | CAAAAAACTTGCCAGGTGTGGTGGCGGGCATCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAAACCGCGAAGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTTCAGCCTGGGCGACAGAATGAGACTCGGTCTCAAAACAAACAAAAAAACAAACAAAACAAAATTTCTTACCCAAATATCACTCCTTGAGTGAAGCCTGTCGTAGCTCCCTTATCATCAGTTCCATTCTCTTCTGTGGCACCCTAGGTTTTGTCACTCTCTTCTATTATGTCTGTGTATATTTCTCCCAGCATGTGA... | CAAAAAACTTGCCAGGTGTGGTGGCGGGCATCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAAACCGCGAAGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTTCAGCCTGGGCGACAGAATGAGACTCGGTCTCAAAACAAACAAAAAAACAAACAAAACAAAATTTCTTACCCAAATATCACTCCTTGAGTGAAGCCTGTCGTAGCTCCCTTATCATCAGTTCCATTCTCTTCTGTGGCACCCTAGGTTTTGTCACTCTCTTCTATTATGTCTGTGTATATTTCTCCCAGCATGTGA... |
Task1_train_8057 | Given this variant in gene OPA1 (OPA1 mitochondrial dynamin like GTPase) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | TGAGGCAGGAGAATCACCTGAAACCGCGAAGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTTCAGCCTGGGCGACAGAATGAGACTCGGTCTCAAAACAAACAAAAAAACAAACAAAACAAAATTTCTTACCCAAATATCACTCCTTGAGTGAAGCCTGTCGTAGCTCCCTTATCATCAGTTCCATTCTCTTCTGTGGCACCCTAGGTTTTGTCACTCTCTTCTATTATGTCTGTGTATATTTCTCCCAGCATGTGATGAGGTCTAAAACTGGGACAGTCAGCTCTGTGTTTCCCCACCTACAACACCTGACA... | TGAGGCAGGAGAATCACCTGAAACCGCGAAGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTTCAGCCTGGGCGACAGAATGAGACTCGGTCTCAAAACAAACAAAAAAACAAACAAAACAAAATTTCTTACCCAAATATCACTCCTTGAGTGAAGCCTGTCGTAGCTCCCTTATCATCAGTTCCATTCTCTTCTGTGGCACCCTAGGTTTTGTCACTCTCTTCTATTATGTCTGTGTATATTTCTCCCAGCATGTGATGAGGTCTAAAACTGGGACAGTCAGCTCTGTGTTTCCCCACCTACAACACCTGACA... |
Task1_train_8058 | The gene LOC126806913, OPA1 (BRD4-independent group 4 enhancer GRCh37_chr3:193364377-193365576| OPA1 mitochondrial dynamin like GTPase) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | TTTTGATCCTAAAAGAGTTGAGAAGCAGTGGATCCAAATATTAAAGAAGAAGGTGGGAGGGGAGGAAGGAGTAAAAGAAGACAATCCAGCTTGGTTAGAATTTAGATATTTGAAGAAAGTATGGAAAAATAATAATAGCTACCATTTATTGAGTGCTTCATGCCTGGCACTGTATCATATTGTCCCATAATCTCACCAACCTTTTTGAAAAAATTAAGTTGTTTACTTAAGGTCGCATAACTACTAGGCAGCAGAGCAGGAATTCAAACTAAGGTCTGTCTGACTTTAAAGAACTACACATCATTCCGGGTTTTCGATAC... | TTTTGATCCTAAAAGAGTTGAGAAGCAGTGGATCCAAATATTAAAGAAGAAGGTGGGAGGGGAGGAAGGAGTAAAAGAAGACAATCCAGCTTGGTTAGAATTTAGATATTTGAAGAAAGTATGGAAAAATAATAATAGCTACCATTTATTGAGTGCTTCATGCCTGGCACTGTATCATATTGTCCCATAATCTCACCAACCTTTTTGAAAAAATTAAGTTGTTTACTTAAGGTCGCATAACTACTAGGCAGCAGAGCAGGAATTCAAACTAAGGTCTGTCTGACTTTAAAGAACTACACATCATTCCGGGTTTTCGATAC... |
Task1_train_8059 | The following genetic variant occurs in LOC126806913, OPA1 (BRD4-independent group 4 enhancer GRCh37_chr3:193364377-193365576| OPA1 mitochondrial dynamin like GTPase) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | CAAATATTAAAGAAGAAGGTGGGAGGGGAGGAAGGAGTAAAAGAAGACAATCCAGCTTGGTTAGAATTTAGATATTTGAAGAAAGTATGGAAAAATAATAATAGCTACCATTTATTGAGTGCTTCATGCCTGGCACTGTATCATATTGTCCCATAATCTCACCAACCTTTTTGAAAAAATTAAGTTGTTTACTTAAGGTCGCATAACTACTAGGCAGCAGAGCAGGAATTCAAACTAAGGTCTGTCTGACTTTAAAGAACTACACATCATTCCGGGTTTTCGATACGTGTGTTTTAATAATACATTTTCAATGTAGTAAA... | CAAATATTAAAGAAGAAGGTGGGAGGGGAGGAAGGAGTAAAAGAAGACAATCCAGCTTGGTTAGAATTTAGATATTTGAAGAAAGTATGGAAAAATAATAATAGCTACCATTTATTGAGTGCTTCATGCCTGGCACTGTATCATATTGTCCCATAATCTCACCAACCTTTTTGAAAAAATTAAGTTGTTTACTTAAGGTCGCATAACTACTAGGCAGCAGAGCAGGAATTCAAACTAAGGTCTGTCTGACTTTAAAGAACTACACATCATTCCGGGTTTTCGATACGTGTGTTTTAATAATACATTTTCAATGTAGTAAA... |
Task1_train_8060 | Here’s a variant in LOC126806913, OPA1 (BRD4-independent group 4 enhancer GRCh37_chr3:193364377-193365576| OPA1 mitochondrial dynamin like GTPase) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal dominant optic atrophy classic form | CAAATATTAAAGAAGAAGGTGGGAGGGGAGGAAGGAGTAAAAGAAGACAATCCAGCTTGGTTAGAATTTAGATATTTGAAGAAAGTATGGAAAAATAATAATAGCTACCATTTATTGAGTGCTTCATGCCTGGCACTGTATCATATTGTCCCATAATCTCACCAACCTTTTTGAAAAAATTAAGTTGTTTACTTAAGGTCGCATAACTACTAGGCAGCAGAGCAGGAATTCAAACTAAGGTCTGTCTGACTTTAAAGAACTACACATCATTCCGGGTTTTCGATACGTGTGTTTTAATAATACATTTTCAATGTAGTAAA... | CAAATATTAAAGAAGAAGGTGGGAGGGGAGGAAGGAGTAAAAGAAGACAATCCAGCTTGGTTAGAATTTAGATATTTGAAGAAAGTATGGAAAAATAATAATAGCTACCATTTATTGAGTGCTTCATGCCTGGCACTGTATCATATTGTCCCATAATCTCACCAACCTTTTTGAAAAAATTAAGTTGTTTACTTAAGGTCGCATAACTACTAGGCAGCAGAGCAGGAATTCAAACTAAGGTCTGTCTGACTTTAAAGAACTACACATCATTCCGGGTTTTCGATACGTGTGTTTTAATAATACATTTTCAATGTAGTAAA... |
Task1_train_8061 | This alteration in LOC126806913, OPA1 (BRD4-independent group 4 enhancer GRCh37_chr3:193364377-193365576| OPA1 mitochondrial dynamin like GTPase) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Optic atrophy | CAAATATTAAAGAAGAAGGTGGGAGGGGAGGAAGGAGTAAAAGAAGACAATCCAGCTTGGTTAGAATTTAGATATTTGAAGAAAGTATGGAAAAATAATAATAGCTACCATTTATTGAGTGCTTCATGCCTGGCACTGTATCATATTGTCCCATAATCTCACCAACCTTTTTGAAAAAATTAAGTTGTTTACTTAAGGTCGCATAACTACTAGGCAGCAGAGCAGGAATTCAAACTAAGGTCTGTCTGACTTTAAAGAACTACACATCATTCCGGGTTTTCGATACGTGTGTTTTAATAATACATTTTCAATGTAGTAAA... | CAAATATTAAAGAAGAAGGTGGGAGGGGAGGAAGGAGTAAAAGAAGACAATCCAGCTTGGTTAGAATTTAGATATTTGAAGAAAGTATGGAAAAATAATAATAGCTACCATTTATTGAGTGCTTCATGCCTGGCACTGTATCATATTGTCCCATAATCTCACCAACCTTTTTGAAAAAATTAAGTTGTTTACTTAAGGTCGCATAACTACTAGGCAGCAGAGCAGGAATTCAAACTAAGGTCTGTCTGACTTTAAAGAACTACACATCATTCCGGGTTTTCGATACGTGTGTTTTAATAATACATTTTCAATGTAGTAAA... |
Task1_train_8062 | The gene LOC126806913, OPA1 (BRD4-independent group 4 enhancer GRCh37_chr3:193364377-193365576| OPA1 mitochondrial dynamin like GTPase) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | GGTGGGAGGGGAGGAAGGAGTAAAAGAAGACAATCCAGCTTGGTTAGAATTTAGATATTTGAAGAAAGTATGGAAAAATAATAATAGCTACCATTTATTGAGTGCTTCATGCCTGGCACTGTATCATATTGTCCCATAATCTCACCAACCTTTTTGAAAAAATTAAGTTGTTTACTTAAGGTCGCATAACTACTAGGCAGCAGAGCAGGAATTCAAACTAAGGTCTGTCTGACTTTAAAGAACTACACATCATTCCGGGTTTTCGATACGTGTGTTTTAATAATACATTTTCAATGTAGTAAAATTAAATGTATTTTTTT... | GGTGGGAGGGGAGGAAGGAGTAAAAGAAGACAATCCAGCTTGGTTAGAATTTAGATATTTGAAGAAAGTATGGAAAAATAATAATAGCTACCATTTATTGAGTGCTTCATGCCTGGCACTGTATCATATTGTCCCATAATCTCACCAACCTTTTTGAAAAAATTAAGTTGTTTACTTAAGGTCGCATAACTACTAGGCAGCAGAGCAGGAATTCAAACTAAGGTCTGTCTGACTTTAAAGAACTACACATCATTCCGGGTTTTCGATACGTGTGTTTTAATAATACATTTTCAATGTAGTAAAATTAAATGTATTTTTTT... |
Task1_train_8063 | Here is a mutation in OPA1 (OPA1 mitochondrial dynamin like GTPase) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | TCTTACTTTATTTTACTTATAAAGTGGTTTTAGAAAATCGACGCTTTCACTTTTAAACGTGTACATATTTCTCTTACAGTATTGGGGAAGATTGGAGTGGGGTTGTCGAAGAAGTATCCCTAGATATATATTGACAGGAGATAAGATAAGCAAAAAGAGCTAAAGGCCAGTTGTATTACTGTATACTAAAACTTTATATGTTGAGTTTCTGGAAATAGAAAAGTATGTTTGTTCCTAGGTTAGTACGGTAAGTCAAGATAGTTCTTGCAAACCATAATCTTACGTGCTTTGGGGAGTGCACTGACAACATATAGAACTGT... | TCTTACTTTATTTTACTTATAAAGTGGTTTTAGAAAATCGACGCTTTCACTTTTAAACGTGTACATATTTCTCTTACAGTATTGGGGAAGATTGGAGTGGGGTTGTCGAAGAAGTATCCCTAGATATATATTGACAGGAGATAAGATAAGCAAAAAGAGCTAAAGGCCAGTTGTATTACTGTATACTAAAACTTTATATGTTGAGTTTCTGGAAATAGAAAAGTATGTTTGTTCCTAGGTTAGTACGGTAAGTCAAGATAGTTCTTGCAAACCATAATCTTACGTGCTTTGGGGAGTGCACTGACAACATATAGAACTGT... |
Task1_train_8064 | Located on Chromosome 3, this mutation impacts OPA1 (OPA1 mitochondrial dynamin like GTPase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | CTCTTATATTTTCAAAGATATTTGCCACTTTGTTCGTGATACGTGCATATTATCCCCAATGCTTATAAGAATATGTGAATATAAATAGTAAAAAAAAGTGTGAATATAAATAGTAAAAAAAATAAATAAATAACAGGAAATAGTCCCTTATTCCCTGACCTGTAAGAATTTTAGTTAACATTTTTATGTATTTCTTTTCAACTTTTTCTGTACATAGGGAGAGAGACAGAGAGGGAAAGAGAAAGTGTGTGTGTATCTGTGTGTGTAACATAACCATCCATTTGCATAATGGAAATCATCCTGCAAAACAGTTTTTATCA... | CTCTTATATTTTCAAAGATATTTGCCACTTTGTTCGTGATACGTGCATATTATCCCCAATGCTTATAAGAATATGTGAATATAAATAGTAAAAAAAAGTGTGAATATAAATAGTAAAAAAAATAAATAAATAACAGGAAATAGTCCCTTATTCCCTGACCTGTAAGAATTTTAGTTAACATTTTTATGTATTTCTTTTCAACTTTTTCTGTACATAGGGAGAGAGACAGAGAGGGAAAGAGAAAGTGTGTGTGTATCTGTGTGTGTAACATAACCATCCATTTGCATAATGGAAATCATCCTGCAAAACAGTTTTTATCA... |
Task1_train_8065 | A variant was discovered on Chromosome 3, affecting TNK2 (tyrosine kinase non receptor 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Epileptic encephalopathy | GGGACTGAAGAAACAAGGGGGCAGAGTCAAGCTCTGCCACCACCGACACCCAGGCCCGCTCCCAAGCCTCACCGGCTGTTGTGGCCTCCTGCCCCTCACCTCCCACCTCCTGAGCAGCTCCAGGCACGGAGGGCAGGTGCTGTGGTTCCAAGCCAGGGCTGGTGGCCCAGGGGGAAGGAGCCCCCAGAGCCCCACCAGCAGCAGCCACAGGGAACCAGCGGCTGGGGCCAACGGGGGCCTTCGACGGAAGGGCGGGGCGGGGCACACCCACAACCCTCCCAGGAGCAGCCGCTCCCGGCCCCTCCCACTGCCCGCCTTGC... | GGGACTGAAGAAACAAGGGGGCAGAGTCAAGCTCTGCCACCACCGACACCCAGGCCCGCTCCCAAGCCTCACCGGCTGTTGTGGCCTCCTGCCCCTCACCTCCCACCTCCTGAGCAGCTCCAGGCACGGAGGGCAGGTGCTGTGGTTCCAAGCCAGGGCTGGTGGCCCAGGGGGAAGGAGCCCCCAGAGCCCCACCAGCAGCAGCCACAGGGAACCAGCGGCTGGGGCCAACGGGGGCCTTCGACGGAAGGGCGGGGCGGGGCACACCCACAACCCTCCCAGGAGCAGCCGCTCCCGGCCCCTCCCACTGCCCGCCTTGC... |
Task1_train_8066 | Assess the clinical impact of this variant on gene PCYT1A (phosphate cytidylyltransferase 1A, choline), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | TGTGGGCATTTGGGAATAAACTAAAAATATAGGCTATACCCAGTAACAGGCACGTAGCCAAATAAAGTCAGAGTTTTAAAGATAAAACATAAACTTGGAACATAAACATGCGCAGCATGGCCCGAACCTCATTCCAGACGGAGATACAGAGGCAGCTAAAAGATCACTGCACAATACTGCCAAGAATAAACTAATTACAATAGATTGAAAGAGAAAATACTAGATCTTTTACTTAATTAATCTGCTTATTGTACTGGATTTTTCCCCTCTATCACTGGCTTATTCTATTATTTTAAATGAATTGTGTTTTTTGCTTTTTG... | TGTGGGCATTTGGGAATAAACTAAAAATATAGGCTATACCCAGTAACAGGCACGTAGCCAAATAAAGTCAGAGTTTTAAAGATAAAACATAAACTTGGAACATAAACATGCGCAGCATGGCCCGAACCTCATTCCAGACGGAGATACAGAGGCAGCTAAAAGATCACTGCACAATACTGCCAAGAATAAACTAATTACAATAGATTGAAAGAGAAAATACTAGATCTTTTACTTAATTAATCTGCTTATTGTACTGGATTTTTCCCCTCTATCACTGGCTTATTCTATTATTTTAAATGAATTGTGTTTTTTGCTTTTTG... |
Task1_train_8067 | This sequence change occurs on Chromosome 3, altering PCYT1A (phosphate cytidylyltransferase 1A, choline). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | AACATAAACATGCGCAGCATGGCCCGAACCTCATTCCAGACGGAGATACAGAGGCAGCTAAAAGATCACTGCACAATACTGCCAAGAATAAACTAATTACAATAGATTGAAAGAGAAAATACTAGATCTTTTACTTAATTAATCTGCTTATTGTACTGGATTTTTCCCCTCTATCACTGGCTTATTCTATTATTTTAAATGAATTGTGTTTTTTGCTTTTTGTTCCTTTAGTATTTTAAGGTCCATTTACTCATTTGCAAAATGATGATACTCGTTGGTCTTACCAACTTTGCTAAAGATAAGGAAAATGGTATAAACCC... | AACATAAACATGCGCAGCATGGCCCGAACCTCATTCCAGACGGAGATACAGAGGCAGCTAAAAGATCACTGCACAATACTGCCAAGAATAAACTAATTACAATAGATTGAAAGAGAAAATACTAGATCTTTTACTTAATTAATCTGCTTATTGTACTGGATTTTTCCCCTCTATCACTGGCTTATTCTATTATTTTAAATGAATTGTGTTTTTTGCTTTTTGTTCCTTTAGTATTTTAAGGTCCATTTACTCATTTGCAAAATGATGATACTCGTTGGTCTTACCAACTTTGCTAAAGATAAGGAAAATGGTATAAACCC... |
Task1_train_8068 | This variant affects gene LOC126806932, PCYT1A (BRD4-independent group 4 enhancer GRCh37_chr3:195973646-195974845| phosphate cytidylyltransferase 1A, choline) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | GTGAGCCACAGCGCCTGGCCATTTTACTGCTATGAATATCCTTTGCAAGGGCAAGAAGAGATGAATGATACTGGGGATCAATAATGTTGTTCGGAGGCGTGCTAAACTTCACTTACTCCTTCCTGTATGGGCCACCAGCCTTTTGCTGATAATTACTAAGATCACTATACCATCCCCGAGAGACCACTGTAGTGTGAAGCATGTTCATTGGGACTATGTCAGAGACTCTCAGCCAGCATCTCAATTACTCATGAACAACTTGTCAGGGATCCATAGGCAGCAAAGTAAAGAATAGGAGGCCGGGTGGATCACCTGAGGTC... | GTGAGCCACAGCGCCTGGCCATTTTACTGCTATGAATATCCTTTGCAAGGGCAAGAAGAGATGAATGATACTGGGGATCAATAATGTTGTTCGGAGGCGTGCTAAACTTCACTTACTCCTTCCTGTATGGGCCACCAGCCTTTTGCTGATAATTACTAAGATCACTATACCATCCCCGAGAGACCACTGTAGTGTGAAGCATGTTCATTGGGACTATGTCAGAGACTCTCAGCCAGCATCTCAATTACTCATGAACAACTTGTCAGGGATCCATAGGCAGCAAAGTAAAGAATAGGAGGCCGGGTGGATCACCTGAGGTC... |
Task1_train_8069 | Gene PCYT1A (phosphate cytidylyltransferase 1A, choline) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Inborn genetic diseases | TTCAGGCCTACCCACGTATTGCTTTAGAAGCACTTTGGCTGCCTTCATTCTTTCTGCCTCACTGAACAATTTACCTACAACATTCCACGCGCCCCTGTAGAGAACTGACAACATGCTTGCTATTTCCTCAGGCTTGGGGGCCTCTAACCTGGCCTAATCAATCCTTCTCATCTTTTGTACCCACCTTTTGCAGGAAACCTGTGGCTTTTTTTTTTTTAAAGTAGAGACAGGGTCTCGGTATGTTGCCCAGGCTGGTCTTGAGCTCCTGGGCTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTTGGATTACAGGCG... | TTCAGGCCTACCCACGTATTGCTTTAGAAGCACTTTGGCTGCCTTCATTCTTTCTGCCTCACTGAACAATTTACCTACAACATTCCACGCGCCCCTGTAGAGAACTGACAACATGCTTGCTATTTCCTCAGGCTTGGGGGCCTCTAACCTGGCCTAATCAATCCTTCTCATCTTTTGTACCCACCTTTTGCAGGAAACCTGTGGCTTTTTTTTTTTTAAAGTAGAGACAGGGTCTCGGTATGTTGCCCAGGCTGGTCTTGAGCTCCTGGGCTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTTGGATTACAGGCG... |
Task1_train_8070 | This variant lies on Chromosome 3 and affects the gene PCYT1A (phosphate cytidylyltransferase 1A, choline). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | TTCAGGCCTACCCACGTATTGCTTTAGAAGCACTTTGGCTGCCTTCATTCTTTCTGCCTCACTGAACAATTTACCTACAACATTCCACGCGCCCCTGTAGAGAACTGACAACATGCTTGCTATTTCCTCAGGCTTGGGGGCCTCTAACCTGGCCTAATCAATCCTTCTCATCTTTTGTACCCACCTTTTGCAGGAAACCTGTGGCTTTTTTTTTTTTAAAGTAGAGACAGGGTCTCGGTATGTTGCCCAGGCTGGTCTTGAGCTCCTGGGCTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTTGGATTACAGGCG... | TTCAGGCCTACCCACGTATTGCTTTAGAAGCACTTTGGCTGCCTTCATTCTTTCTGCCTCACTGAACAATTTACCTACAACATTCCACGCGCCCCTGTAGAGAACTGACAACATGCTTGCTATTTCCTCAGGCTTGGGGGCCTCTAACCTGGCCTAATCAATCCTTCTCATCTTTTGTACCCACCTTTTGCAGGAAACCTGTGGCTTTTTTTTTTTTAAAGTAGAGACAGGGTCTCGGTATGTTGCCCAGGCTGGTCTTGAGCTCCTGGGCTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTTGGATTACAGGCG... |
Task1_train_8071 | This mutation occurs in PCYT1A (phosphate cytidylyltransferase 1A, choline) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | TCAGGCCTACCCACGTATTGCTTTAGAAGCACTTTGGCTGCCTTCATTCTTTCTGCCTCACTGAACAATTTACCTACAACATTCCACGCGCCCCTGTAGAGAACTGACAACATGCTTGCTATTTCCTCAGGCTTGGGGGCCTCTAACCTGGCCTAATCAATCCTTCTCATCTTTTGTACCCACCTTTTGCAGGAAACCTGTGGCTTTTTTTTTTTTAAAGTAGAGACAGGGTCTCGGTATGTTGCCCAGGCTGGTCTTGAGCTCCTGGGCTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTTGGATTACAGGCGT... | TCAGGCCTACCCACGTATTGCTTTAGAAGCACTTTGGCTGCCTTCATTCTTTCTGCCTCACTGAACAATTTACCTACAACATTCCACGCGCCCCTGTAGAGAACTGACAACATGCTTGCTATTTCCTCAGGCTTGGGGGCCTCTAACCTGGCCTAATCAATCCTTCTCATCTTTTGTACCCACCTTTTGCAGGAAACCTGTGGCTTTTTTTTTTTTAAAGTAGAGACAGGGTCTCGGTATGTTGCCCAGGCTGGTCTTGAGCTCCTGGGCTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTTGGATTACAGGCGT... |
Task1_train_8072 | The gene NRROS (negative regulator of reactive oxygen species) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Seizures, early-onset, with neurodegeneration and brain calcifications | TGGTCTGCTTGGTTCCAAATTCCATGATCTTCCCATGATATCCTGCTGCTTCCTGCCAGGGCCACAACAAGAGTTTTTTTCTGGGCTGGTTGGCTGAGTTTAGGAGGAAGGAGAGGATATGTTTTAAACTTGCAAAATTCTTGATGACCCATAAATTAAAATGCCCCTCCTGAGTGTGACACAAGGCCTGGCTTGCCTTCCAGTCTGAAGGTTGCCTTTTCGCTGAGGGACCTGCACTCTTGCCCCTTACACGTCTAGATTCAGTTCTTCGATACGCAGGGCTGGCTCTTCCAGAGAGACTGGAGTCACAGCAGCAGGTA... | TGGTCTGCTTGGTTCCAAATTCCATGATCTTCCCATGATATCCTGCTGCTTCCTGCCAGGGCCACAACAAGAGTTTTTTTCTGGGCTGGTTGGCTGAGTTTAGGAGGAAGGAGAGGATATGTTTTAAACTTGCAAAATTCTTGATGACCCATAAATTAAAATGCCCCTCCTGAGTGTGACACAAGGCCTGGCTTGCCTTCCAGTCTGAAGGTTGCCTTTTCGCTGAGGGACCTGCACTCTTGCCCCTTACACGTCTAGATTCAGTTCTTCGATACGCAGGGCTGGCTCTTCCAGAGAGACTGGAGTCACAGCAGCAGGTA... |
Task1_train_8073 | Given this context: Chromosome 3, gene NRROS (negative regulator of reactive oxygen species) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Seizures, early-onset, with neurodegeneration and brain calcifications | CCAAAGAGGGAAGGGGGATGTGGAAAGAACTTGGCAAATCCTTTCTAACGTTCGTCTGGAAATTAGAGAAACCCAAATGCTCAACAATAGGAGATGATTAATTAGATCATCCTAATAATTATAGCTCACATTTATTAAGCACAGTAAATGTGTTTCACCTCAACAGTCACACTTGATCCTGAAAAAAAACGCTATGCGAAAATGACGAGTATAATTTCGGTTTTACAGGCAGGGTAATGGAGGTCTCTTTCGGTTCCGTAACCATCCAAAGGTCACCCATTTGATCAAAAGCAGAGCCACGAAGCATTGGCCCTGGAACT... | CCAAAGAGGGAAGGGGGATGTGGAAAGAACTTGGCAAATCCTTTCTAACGTTCGTCTGGAAATTAGAGAAACCCAAATGCTCAACAATAGGAGATGATTAATTAGATCATCCTAATAATTATAGCTCACATTTATTAAGCACAGTAAATGTGTTTCACCTCAACAGTCACACTTGATCCTGAAAAAAAACGCTATGCGAAAATGACGAGTATAATTTCGGTTTTACAGGCAGGGTAATGGAGGTCTCTTTCGGTTCCGTAACCATCCAAAGGTCACCCATTTGATCAAAAGCAGAGCCACGAAGCATTGGCCCTGGAACT... |
Task1_train_8074 | A genetic alteration is present in PAK2 (p21 (RAC1) activated kinase 2) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Knobloch syndrome | TTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTGTTTTTAGTAAAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCTCTAGCTACTGAACTCAGGTATCTTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGGCTGGCCATGATTGCTTATTTTTAAGTAATCTTAATGGGGAAGCTCTCATACATTTTTGGTGAATACACATGAAAATGAATTAAACTTTTGGATGACATTTTTTTTTTCTGGCTCTGCCATTTACTAAGTGAA... | TTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTGTTTTTAGTAAAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCTCTAGCTACTGAACTCAGGTATCTTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGGCTGGCCATGATTGCTTATTTTTAAGTAATCTTAATGGGGAAGCTCTCATACATTTTTGGTGAATACACATGAAAATGAATTAAACTTTTGGATGACATTTTTTTTTTCTGGCTCTGCCATTTACTAAGTGAA... |
Task1_train_8075 | This gene mutation involves IQCG, RPL35A (dynein regulatory complex subunit 9| ribosomal protein L35a) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Diamond-Blackfan anemia 5 | TTTGTTTACTGCCGTGTCATCTTACACAAACCTTGGTACAGGGTAGTCATTCATTAAACTATGTGTTAAATAAATGAATGAATCCATAGGATAACCCAAATAAATATGCAATAATTCGGAAATGTGAATCTCTGGCGTCCACTAATCCACCTCTACAAGTATCTACGGAGGACCTACTAGGTGCGGACACGAGGCAGCTAAACGAGTTCTCCTAAAAGGGCGATAAAGCCTCCTGCAGGCAGTCCTCCTCATACCTCGGATCCAAAAAGAAGAATGGAGGTAAGAACTTAAGTCATTTCATTCATTTTTTTTTTCTTTTG... | TTTGTTTACTGCCGTGTCATCTTACACAAACCTTGGTACAGGGTAGTCATTCATTAAACTATGTGTTAAATAAATGAATGAATCCATAGGATAACCCAAATAAATATGCAATAATTCGGAAATGTGAATCTCTGGCGTCCACTAATCCACCTCTACAAGTATCTACGGAGGACCTACTAGGTGCGGACACGAGGCAGCTAAACGAGTTCTCCTAAAAGGGCGATAAAGCCTCCTGCAGGCAGTCCTCCTCATACCTCGGATCCAAAAAGAAGAATGGAGGTAAGAACTTAAGTCATTTCATTCATTTTTTTTTTCTTTTG... |
Task1_train_8076 | A variant affecting Chromosome 4, within the gene PIGG (phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Emm-null phenotype | AGCCTGGGCAACATAGCGGGACCCTGTATCTACCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGGTGTGGTGCCACACACCTGTAGTTCCAGCTACTTGGGAGGCCAAGGTGGGAGGATCGCTTGGGCCCAGGAGTTCAAAGCTGCAGTGATCCCTGATTGCATGACTGCACTCCATCCTGAGCAACAGAGAGGGACCCTGTCTCAAAAAAAAAAAAAAAAATCTTCAGTGCCCTTTTCATGCTCCGGTTTTGGATTCAGTGGCCTAATTCTTGCATTTTCTGACTGCAGGCATTGATGACGGGGAGCCTTCCTGGCT... | AGCCTGGGCAACATAGCGGGACCCTGTATCTACCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGGTGTGGTGCCACACACCTGTAGTTCCAGCTACTTGGGAGGCCAAGGTGGGAGGATCGCTTGGGCCCAGGAGTTCAAAGCTGCAGTGATCCCTGATTGCATGACTGCACTCCATCCTGAGCAACAGAGAGGGACCCTGTCTCAAAAAAAAAAAAAAAAATCTTCAGTGCCCTTTTCATGCTCCGGTTTTGGATTCAGTGGCCTAATTCTTGCATTTTCTGACTGCAGGCATTGATGACGGGGAGCCTTCCTGGCT... |
Task1_train_8077 | A variant was discovered on Chromosome 4, affecting PIGG (phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Intellectual disability, autosomal recessive 53 | AGCCTGGGCAACATAGCGGGACCCTGTATCTACCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGGTGTGGTGCCACACACCTGTAGTTCCAGCTACTTGGGAGGCCAAGGTGGGAGGATCGCTTGGGCCCAGGAGTTCAAAGCTGCAGTGATCCCTGATTGCATGACTGCACTCCATCCTGAGCAACAGAGAGGGACCCTGTCTCAAAAAAAAAAAAAAAAATCTTCAGTGCCCTTTTCATGCTCCGGTTTTGGATTCAGTGGCCTAATTCTTGCATTTTCTGACTGCAGGCATTGATGACGGGGAGCCTTCCTGGCT... | AGCCTGGGCAACATAGCGGGACCCTGTATCTACCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGGTGTGGTGCCACACACCTGTAGTTCCAGCTACTTGGGAGGCCAAGGTGGGAGGATCGCTTGGGCCCAGGAGTTCAAAGCTGCAGTGATCCCTGATTGCATGACTGCACTCCATCCTGAGCAACAGAGAGGGACCCTGTCTCAAAAAAAAAAAAAAAAATCTTCAGTGCCCTTTTCATGCTCCGGTTTTGGATTCAGTGGCCTAATTCTTGCATTTTCTGACTGCAGGCATTGATGACGGGGAGCCTTCCTGGCT... |
Task1_train_8078 | This sequence variant lies in PDE6B, PDE6B-AS1 (phosphodiesterase 6B| PDE6B antisense RNA 1) on Chromosome 4. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | ACGGGCATGGGGCCAAAGCTCCTGACCAGTGCAGGGACACGGGGGGTGGGACATACTCAGATAGGGGCTGGGAAGGCTGGGAGCTTCTGCTGAGGGTGGCACCAGCAGCAGCTCCATGACTGTGACTGCGGCCAGGGCGGCTCCACGACGGTGACTGGGGTCAGGGCAGGAGAGTGTGGAGGCCAGTGAGGAGGGTCCACACCCATCGGTGAGGCAGGAGTCAGGGTAGGCTGCAGACCCGGGCGGAGATTGCGAGGCAGGGGTCAGGGTCACTGGAGAAACATGGCTCAGGAAAGGCTTCAGGGAGAAAAAGGTGTTGG... | ACGGGCATGGGGCCAAAGCTCCTGACCAGTGCAGGGACACGGGGGGTGGGACATACTCAGATAGGGGCTGGGAAGGCTGGGAGCTTCTGCTGAGGGTGGCACCAGCAGCAGCTCCATGACTGTGACTGCGGCCAGGGCGGCTCCACGACGGTGACTGGGGTCAGGGCAGGAGAGTGTGGAGGCCAGTGAGGAGGGTCCACACCCATCGGTGAGGCAGGAGTCAGGGTAGGCTGCAGACCCGGGCGGAGATTGCGAGGCAGGGGTCAGGGTCACTGGAGAAACATGGCTCAGGAAAGGCTTCAGGGAGAAAAAGGTGTTGG... |
Task1_train_8079 | Given this variant in gene PDE6B (phosphodiesterase 6B) on Chromosome 4, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | AAGGTCATTCCGTAAGTGCAGGATTTTACCAGAAGCGTCCCCGGGGGAGGGACCGCCCCTCAGACCCCGGCTCAGCCCCCAGGGCCGTCCTCCCAGGGCTTCCCACGGTGCAGTCAGCAGCACCGGCCTGGCCTGGCCCCACCTGTGGTGCTCTGTGTGCCGTGGGGCATAGTGGAGTTGGGGGTGAGACAGAAGCCGACTCACTGTTCTGGGAGATGGTGAGGAGGACGTGGGCTGCTGAGGAGCCCGAGTCACTGTGGACATCCAGAGTGGACATACAGGGGACCAGGCAAGCTGTCCAGGCGGCCTCGTCAGCAACA... | AAGGTCATTCCGTAAGTGCAGGATTTTACCAGAAGCGTCCCCGGGGGAGGGACCGCCCCTCAGACCCCGGCTCAGCCCCCAGGGCCGTCCTCCCAGGGCTTCCCACGGTGCAGTCAGCAGCACCGGCCTGGCCTGGCCCCACCTGTGGTGCTCTGTGTGCCGTGGGGCATAGTGGAGTTGGGGGTGAGACAGAAGCCGACTCACTGTTCTGGGAGATGGTGAGGAGGACGTGGGCTGCTGAGGAGCCCGAGTCACTGTGGACATCCAGAGTGGACATACAGGGGACCAGGCAAGCTGTCCAGGCGGCCTCGTCAGCAACA... |
Task1_train_8080 | A variant has been detected on Chromosome 4 in PDE6B (phosphodiesterase 6B). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Retinitis pigmentosa | GGGCCCACCACATTTGACATCTACGAATTCCACTTCTCTGACCTGGAGTGCACCGAACTGGACCTGGTCAAATGTGGCATCCAGATGTACTACGAGCTGGGCGTGGTCCGAAAGTTCCAGATCCCCCAGGAGGTGGGAGACACCGCAGGGCGCATAGTCAGGTCCCTGAGGCCGCCCAGGACATGGGGGTGGGGATGTGATCAGGGCCTCAGGTGCCCCAGAAGGTGAGGGGGATGGGATTGGGGGTTCCAGATCCCACAGGAAGTTTAGAGGGCCGACATGTTCATCACAGAACAGGTAAAATGCACACGGGAAGTAAG... | GGGCCCACCACATTTGACATCTACGAATTCCACTTCTCTGACCTGGAGTGCACCGAACTGGACCTGGTCAAATGTGGCATCCAGATGTACTACGAGCTGGGCGTGGTCCGAAAGTTCCAGATCCCCCAGGAGGTGGGAGACACCGCAGGGCGCATAGTCAGGTCCCTGAGGCCGCCCAGGACATGGGGGTGGGGATGTGATCAGGGCCTCAGGTGCCCCAGAAGGTGAGGGGGATGGGATTGGGGGTTCCAGATCCCACAGGAAGTTTAGAGGGCCGACATGTTCATCACAGAACAGGTAAAATGCACACGGGAAGTAAG... |
Task1_train_8081 | The gene PDE6B (phosphodiesterase 6B) on Chromosome 4 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Retinitis pigmentosa | TCTTAAAATATGCTGCATCCCCAGGGGTCCTCCTCCCAGCTTGAGGCCAGGCAGTCGGATGGAGGCTGGGCGGCCCCTGAAGGCTGGGGCTGTTCTCAGCTCCTGCCCTACCTGGCTCCACCCCATAGGTGCCAATGTGGCAGCCCCTACCCAGGAAGGCCAGCAGAGGCCAGTGGGAAACGCAGGGATGGGGAAGATCGGGAAGTCCAGGAGACGGTGTGGGGATGATGGCACGGAGCAGGGCTTCCACTGTGAAGTCAGCCACAGGTGCCGCTCTGGCGGGACTTACACGCTTGCCGCCGGAGCCCTGTGTCCTCTCG... | TCTTAAAATATGCTGCATCCCCAGGGGTCCTCCTCCCAGCTTGAGGCCAGGCAGTCGGATGGAGGCTGGGCGGCCCCTGAAGGCTGGGGCTGTTCTCAGCTCCTGCCCTACCTGGCTCCACCCCATAGGTGCCAATGTGGCAGCCCCTACCCAGGAAGGCCAGCAGAGGCCAGTGGGAAACGCAGGGATGGGGAAGATCGGGAAGTCCAGGAGACGGTGTGGGGATGATGGCACGGAGCAGGGCTTCCACTGTGAAGTCAGCCACAGGTGCCGCTCTGGCGGGACTTACACGCTTGCCGCCGGAGCCCTGTGTCCTCTCG... |
Task1_train_8082 | A variant has been detected on Chromosome 4 in PDE6B (phosphodiesterase 6B). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Retinal dystrophy | TCTTAAAATATGCTGCATCCCCAGGGGTCCTCCTCCCAGCTTGAGGCCAGGCAGTCGGATGGAGGCTGGGCGGCCCCTGAAGGCTGGGGCTGTTCTCAGCTCCTGCCCTACCTGGCTCCACCCCATAGGTGCCAATGTGGCAGCCCCTACCCAGGAAGGCCAGCAGAGGCCAGTGGGAAACGCAGGGATGGGGAAGATCGGGAAGTCCAGGAGACGGTGTGGGGATGATGGCACGGAGCAGGGCTTCCACTGTGAAGTCAGCCACAGGTGCCGCTCTGGCGGGACTTACACGCTTGCCGCCGGAGCCCTGTGTCCTCTCG... | TCTTAAAATATGCTGCATCCCCAGGGGTCCTCCTCCCAGCTTGAGGCCAGGCAGTCGGATGGAGGCTGGGCGGCCCCTGAAGGCTGGGGCTGTTCTCAGCTCCTGCCCTACCTGGCTCCACCCCATAGGTGCCAATGTGGCAGCCCCTACCCAGGAAGGCCAGCAGAGGCCAGTGGGAAACGCAGGGATGGGGAAGATCGGGAAGTCCAGGAGACGGTGTGGGGATGATGGCACGGAGCAGGGCTTCCACTGTGAAGTCAGCCACAGGTGCCGCTCTGGCGGGACTTACACGCTTGCCGCCGGAGCCCTGTGTCCTCTCG... |
Task1_train_8083 | A variant was discovered on Chromosome 4, affecting PDE6B (phosphodiesterase 6B). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Retinitis pigmentosa 40 | CACCCGCTCTGGTGGGCGGCGAGGGGCTCTCTGGAGCCTGCAGTGGAGAGGGCTTAGGCCAGGTGCAGCCTCGGCAGGAAAGGGGGCATTGGTTGGTCAGCAAAGCCCCACAGGGGAAGGACAGGCAGCAGGTCCATCCCCCGCGCCCGGCCTCTAGAGTCCTGCATGGTTCACCCTCCACCAGGACGCTGTGAGGGGACGGACAGCCCAGGGCACTCGGGGTCTGACACTAGAAACAGCTCCAGAGCACGTCTGTGTCTGCCCCAGGCGAGTGCACAGCGAGGTCCTGGTCAGCCGAGTGTCTGGGCAGTGCAGCCCAG... | CACCCGCTCTGGTGGGCGGCGAGGGGCTCTCTGGAGCCTGCAGTGGAGAGGGCTTAGGCCAGGTGCAGCCTCGGCAGGAAAGGGGGCATTGGTTGGTCAGCAAAGCCCCACAGGGGAAGGACAGGCAGCAGGTCCATCCCCCGCGCCCGGCCTCTAGAGTCCTGCATGGTTCACCCTCCACCAGGACGCTGTGAGGGGACGGACAGCCCAGGGCACTCGGGGTCTGACACTAGAAACAGCTCCAGAGCACGTCTGTGTCTGCCCCAGGCGAGTGCACAGCGAGGTCCTGGTCAGCCGAGTGTCTGGGCAGTGCAGCCCAG... |
Task1_train_8084 | A variant was discovered on Chromosome 4, affecting PDE6B (phosphodiesterase 6B). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive retinitis pigmentosa | CACCCGCTCTGGTGGGCGGCGAGGGGCTCTCTGGAGCCTGCAGTGGAGAGGGCTTAGGCCAGGTGCAGCCTCGGCAGGAAAGGGGGCATTGGTTGGTCAGCAAAGCCCCACAGGGGAAGGACAGGCAGCAGGTCCATCCCCCGCGCCCGGCCTCTAGAGTCCTGCATGGTTCACCCTCCACCAGGACGCTGTGAGGGGACGGACAGCCCAGGGCACTCGGGGTCTGACACTAGAAACAGCTCCAGAGCACGTCTGTGTCTGCCCCAGGCGAGTGCACAGCGAGGTCCTGGTCAGCCGAGTGTCTGGGCAGTGCAGCCCAG... | CACCCGCTCTGGTGGGCGGCGAGGGGCTCTCTGGAGCCTGCAGTGGAGAGGGCTTAGGCCAGGTGCAGCCTCGGCAGGAAAGGGGGCATTGGTTGGTCAGCAAAGCCCCACAGGGGAAGGACAGGCAGCAGGTCCATCCCCCGCGCCCGGCCTCTAGAGTCCTGCATGGTTCACCCTCCACCAGGACGCTGTGAGGGGACGGACAGCCCAGGGCACTCGGGGTCTGACACTAGAAACAGCTCCAGAGCACGTCTGTGTCTGCCCCAGGCGAGTGCACAGCGAGGTCCTGGTCAGCCGAGTGTCTGGGCAGTGCAGCCCAG... |
Task1_train_8085 | Given this variant in gene PDE6B (phosphodiesterase 6B) on Chromosome 4, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | CACCCGCTCTGGTGGGCGGCGAGGGGCTCTCTGGAGCCTGCAGTGGAGAGGGCTTAGGCCAGGTGCAGCCTCGGCAGGAAAGGGGGCATTGGTTGGTCAGCAAAGCCCCACAGGGGAAGGACAGGCAGCAGGTCCATCCCCCGCGCCCGGCCTCTAGAGTCCTGCATGGTTCACCCTCCACCAGGACGCTGTGAGGGGACGGACAGCCCAGGGCACTCGGGGTCTGACACTAGAAACAGCTCCAGAGCACGTCTGTGTCTGCCCCAGGCGAGTGCACAGCGAGGTCCTGGTCAGCCGAGTGTCTGGGCAGTGCAGCCCAG... | CACCCGCTCTGGTGGGCGGCGAGGGGCTCTCTGGAGCCTGCAGTGGAGAGGGCTTAGGCCAGGTGCAGCCTCGGCAGGAAAGGGGGCATTGGTTGGTCAGCAAAGCCCCACAGGGGAAGGACAGGCAGCAGGTCCATCCCCCGCGCCCGGCCTCTAGAGTCCTGCATGGTTCACCCTCCACCAGGACGCTGTGAGGGGACGGACAGCCCAGGGCACTCGGGGTCTGACACTAGAAACAGCTCCAGAGCACGTCTGTGTCTGCCCCAGGCGAGTGCACAGCGAGGTCCTGGTCAGCCGAGTGTCTGGGCAGTGCAGCCCAG... |
Task1_train_8086 | Gene IDUA, SLC26A1 (alpha-L-iduronidase| solute carrier family 26 member 1) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Mucopolysaccharidosis type 1 | GAGCGGCTCACCTTAATTCTCTCAGGGCTTGAGGTGATTTAAGGCTGGCTTCAGTCCCCACAAAGACAATTCTGTTGCTGGTTTACCTTTGCTTTTAGGGGATAGAACTTTGGGGTCCCAAGAAAAACCCAAAGTCTTTACCAGGCCCCCCGCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGC... | GAGCGGCTCACCTTAATTCTCTCAGGGCTTGAGGTGATTTAAGGCTGGCTTCAGTCCCCACAAAGACAATTCTGTTGCTGGTTTACCTTTGCTTTTAGGGGATAGAACTTTGGGGTCCCAAGAAAAACCCAAAGTCTTTACCAGGCCCCCCGCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGC... |
Task1_train_8087 | Here’s a variant in IDUA, SLC26A1 (alpha-L-iduronidase| solute carrier family 26 member 1) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hurler syndrome | GAGCGGCTCACCTTAATTCTCTCAGGGCTTGAGGTGATTTAAGGCTGGCTTCAGTCCCCACAAAGACAATTCTGTTGCTGGTTTACCTTTGCTTTTAGGGGATAGAACTTTGGGGTCCCAAGAAAAACCCAAAGTCTTTACCAGGCCCCCCGCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGC... | GAGCGGCTCACCTTAATTCTCTCAGGGCTTGAGGTGATTTAAGGCTGGCTTCAGTCCCCACAAAGACAATTCTGTTGCTGGTTTACCTTTGCTTTTAGGGGATAGAACTTTGGGGTCCCAAGAAAAACCCAAAGTCTTTACCAGGCCCCCCGCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGC... |
Task1_train_8088 | A change on Chromosome 4 affects gene IDUA, SLC26A1 (alpha-L-iduronidase| solute carrier family 26 member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Mucopolysaccharidosis type 1 | GAGCGGCTCACCTTAATTCTCTCAGGGCTTGAGGTGATTTAAGGCTGGCTTCAGTCCCCACAAAGACAATTCTGTTGCTGGTTTACCTTTGCTTTTAGGGGATAGAACTTTGGGGTCCCAAGAAAAACCCAAAGTCTTTACCAGGCCCCCCGCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGC... | GAGCGGCTCACCTTAATTCTCTCAGGGCTTGAGGTGATTTAAGGCTGGCTTCAGTCCCCACAAAGACAATTCTGTTGCTGGTTTACCTTTGCTTTTAGGGGATAGAACTTTGGGGTCCCAAGAAAAACCCAAAGTCTTTACCAGGCCCCCCGCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGC... |
Task1_train_8089 | This is a variant in IDUA, SLC26A1 (alpha-L-iduronidase| solute carrier family 26 member 1), located on Chromosome 4. Is this mutation a likely cause of disease or not? | Pathogenic; Mucopolysaccharidosis type 1 | AGCGGCTCACCTTAATTCTCTCAGGGCTTGAGGTGATTTAAGGCTGGCTTCAGTCCCCACAAAGACAATTCTGTTGCTGGTTTACCTTTGCTTTTAGGGGATAGAACTTTGGGGTCCCAAGAAAAACCCAAAGTCTTTACCAGGCCCCCCGCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGCT... | AGCGGCTCACCTTAATTCTCTCAGGGCTTGAGGTGATTTAAGGCTGGCTTCAGTCCCCACAAAGACAATTCTGTTGCTGGTTTACCTTTGCTTTTAGGGGATAGAACTTTGGGGTCCCAAGAAAAACCCAAAGTCTTTACCAGGCCCCCCGCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGCT... |
Task1_train_8090 | The gene IDUA, SLC26A1 (alpha-L-iduronidase| solute carrier family 26 member 1) on Chromosome 4 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Mucopolysaccharidosis, MPS-I-S | AGCGGCTCACCTTAATTCTCTCAGGGCTTGAGGTGATTTAAGGCTGGCTTCAGTCCCCACAAAGACAATTCTGTTGCTGGTTTACCTTTGCTTTTAGGGGATAGAACTTTGGGGTCCCAAGAAAAACCCAAAGTCTTTACCAGGCCCCCCGCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGCT... | AGCGGCTCACCTTAATTCTCTCAGGGCTTGAGGTGATTTAAGGCTGGCTTCAGTCCCCACAAAGACAATTCTGTTGCTGGTTTACCTTTGCTTTTAGGGGATAGAACTTTGGGGTCCCAAGAAAAACCCAAAGTCTTTACCAGGCCCCCCGCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGCT... |
Task1_train_8091 | A change on Chromosome 4 affects gene IDUA, SLC26A1 (alpha-L-iduronidase| solute carrier family 26 member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hurler syndrome | AGCGGCTCACCTTAATTCTCTCAGGGCTTGAGGTGATTTAAGGCTGGCTTCAGTCCCCACAAAGACAATTCTGTTGCTGGTTTACCTTTGCTTTTAGGGGATAGAACTTTGGGGTCCCAAGAAAAACCCAAAGTCTTTACCAGGCCCCCCGCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGCT... | AGCGGCTCACCTTAATTCTCTCAGGGCTTGAGGTGATTTAAGGCTGGCTTCAGTCCCCACAAAGACAATTCTGTTGCTGGTTTACCTTTGCTTTTAGGGGATAGAACTTTGGGGTCCCAAGAAAAACCCAAAGTCTTTACCAGGCCCCCCGCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGCT... |
Task1_train_8092 | A variant affecting Chromosome 4, within the gene IDUA, SLC26A1 (alpha-L-iduronidase| solute carrier family 26 member 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Mucopolysaccharidosis, MPS-I-H/S | AGCGGCTCACCTTAATTCTCTCAGGGCTTGAGGTGATTTAAGGCTGGCTTCAGTCCCCACAAAGACAATTCTGTTGCTGGTTTACCTTTGCTTTTAGGGGATAGAACTTTGGGGTCCCAAGAAAAACCCAAAGTCTTTACCAGGCCCCCCGCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGCT... | AGCGGCTCACCTTAATTCTCTCAGGGCTTGAGGTGATTTAAGGCTGGCTTCAGTCCCCACAAAGACAATTCTGTTGCTGGTTTACCTTTGCTTTTAGGGGATAGAACTTTGGGGTCCCAAGAAAAACCCAAAGTCTTTACCAGGCCCCCCGCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGCT... |
Task1_train_8093 | A variant on Chromosome 4 in gene IDUA, SLC26A1 (alpha-L-iduronidase| solute carrier family 26 member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Mucopolysaccharidosis type 1 | GCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGCTCCTCAGAGCTCCCAGTGCCCTGGACGGTTCCGTTCAGCGCTCTCCAGTTCTGATGGTTGCTCTCAGGAGGCGGCTGGTCTGAAACAATTCAGTTTCCATTGCTGTGTCCTGCACCACGGTGTGGGACTGGTGGTTTCTTACTGTTTTTCT... | GCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGCTCCTCAGAGCTCCCAGTGCCCTGGACGGTTCCGTTCAGCGCTCTCCAGTTCTGATGGTTGCTCTCAGGAGGCGGCTGGTCTGAAACAATTCAGTTTCCATTGCTGTGTCCTGCACCACGGTGTGGGACTGGTGGTTTCTTACTGTTTTTCT... |
Task1_train_8094 | This alteration occurs within gene IDUA, SLC26A1 (alpha-L-iduronidase| solute carrier family 26 member 1) located on Chromosome 4. Is it associated with a disease or is it a benign variant? | Pathogenic; Mucopolysaccharidosis type 1 | AAAAAGACCCAGAACACTGTAACTCTAATTATCCTTCTCCCAACTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTAAATTTTTTTTTTGTACAGATGGGGTCTTGGTACATCTCCCAGGCCGATTTCAAACTCCA... | AAAAAGACCCAGAACACTGTAACTCTAATTATCCTTCTCCCAACTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTAAATTTTTTTTTTGTACAGATGGGGTCTTGGTACATCTCCCAGGCCGATTTCAAACTCCA... |
Task1_train_8095 | Consider this mutation in IDUA, SLC26A1 (alpha-L-iduronidase| solute carrier family 26 member 1) on Chromosome 4. Is this a benign change or a disease-causing variant? | Pathogenic; Hurler syndrome | AAAAAGACCCAGAACACTGTAACTCTAATTATCCTTCTCCCAACTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTAAATTTTTTTTTTGTACAGATGGGGTCTTGGTACATCTCCCAGGCCGATTTCAAACTCCA... | AAAAAGACCCAGAACACTGTAACTCTAATTATCCTTCTCCCAACTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTAAATTTTTTTTTTGTACAGATGGGGTCTTGGTACATCTCCCAGGCCGATTTCAAACTCCA... |
Task1_train_8096 | Consider a variant on Chromosome 4 in gene IDUA, SLC26A1 (alpha-L-iduronidase| solute carrier family 26 member 1). Determine its clinical classification and disease relevance. | Pathogenic; Hurler syndrome | CTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTAAATTTTTTTTTTGTACAGATGGGGTCTTGGTACATCTCCCAGGCCGATTTCAAACTCCAGGCCTCAAGTGATCCTCCCGTGTTGGCCTGCAATTCCAAAGTG... | CTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTAAATTTTTTTTTTGTACAGATGGGGTCTTGGTACATCTCCCAGGCCGATTTCAAACTCCAGGCCTCAAGTGATCCTCCCGTGTTGGCCTGCAATTCCAAAGTG... |
Task1_train_8097 | Consider this mutation in IDUA, SLC26A1 (alpha-L-iduronidase| solute carrier family 26 member 1) on Chromosome 4. Is this a benign change or a disease-causing variant? | Pathogenic; Mucopolysaccharidosis, MPS-I-H/S | CTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTAAATTTTTTTTTTGTACAGATGGGGTCTTGGTACATCTCCCAGGCCGATTTCAAACTCCAGGCCTCAAGTGATCCTCCCGTGTTGGCCTGCAATTCCAAAGTG... | CTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTAAATTTTTTTTTTGTACAGATGGGGTCTTGGTACATCTCCCAGGCCGATTTCAAACTCCAGGCCTCAAGTGATCCTCCCGTGTTGGCCTGCAATTCCAAAGTG... |
Task1_train_8098 | A mutation on Chromosome 4 affecting IDUA, SLC26A1 (alpha-L-iduronidase| solute carrier family 26 member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Mucopolysaccharidosis, MPS-I-S | CTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTAAATTTTTTTTTTGTACAGATGGGGTCTTGGTACATCTCCCAGGCCGATTTCAAACTCCAGGCCTCAAGTGATCCTCCCGTGTTGGCCTGCAATTCCAAAGTG... | CTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTAAATTTTTTTTTTGTACAGATGGGGTCTTGGTACATCTCCCAGGCCGATTTCAAACTCCAGGCCTCAAGTGATCCTCCCGTGTTGGCCTGCAATTCCAAAGTG... |
Task1_train_8099 | Chromosome 4 houses a mutation in gene IDUA, SLC26A1 (alpha-L-iduronidase| solute carrier family 26 member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Mucopolysaccharidosis type 1 | CTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTAAATTTTTTTTTTGTACAGATGGGGTCTTGGTACATCTCCCAGGCCGATTTCAAACTCCAGGCCTCAAGTGATCCTCCCGTGTTGGCCTGCAATTCCAAAGTG... | CTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTAAATTTTTTTTTTGTACAGATGGGGTCTTGGTACATCTCCCAGGCCGATTTCAAACTCCAGGCCTCAAGTGATCCTCCCGTGTTGGCCTGCAATTCCAAAGTG... |
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