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_7900 | Gene KLHL24 (kelch like family member 24), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Epidermolysis bullosa simplex, Koebner type | TGATGTTACGTATTTTATTTCCCTTTGTGTCACTTAAAAAGTGGGGTACAATTTAATATGCGACAGGGTACACAAAATGCAGCCTTAAGATGTTAACTTTCAAGTCTCAGTTTTATTTGTGGCTTGCGAATGTAGGATGGCATCTCATTTTTTAGATTATATTATCTGTGACATCCTTTAGCTGACTTCTTTTTGCTTGCCAGTCTTAGGCCTGAATGTCTGACTTGAAATATTTCAAGAAGTTGGGAATGGTAGAAGGGATGTGTATGAAATTCTGAGAGTATGGCAATAGATGAGGTACCCTGAGTGATCTTAAACCA... | TGATGTTACGTATTTTATTTCCCTTTGTGTCACTTAAAAAGTGGGGTACAATTTAATATGCGACAGGGTACACAAAATGCAGCCTTAAGATGTTAACTTTCAAGTCTCAGTTTTATTTGTGGCTTGCGAATGTAGGATGGCATCTCATTTTTTAGATTATATTATCTGTGACATCCTTTAGCTGACTTCTTTTTGCTTGCCAGTCTTAGGCCTGAATGTCTGACTTGAAATATTTCAAGAAGTTGGGAATGGTAGAAGGGATGTGTATGAAATTCTGAGAGTATGGCAATAGATGAGGTACCCTGAGTGATCTTAAACCA... |
Task1_train_7901 | This mutation is located in gene KLHL24 (kelch like family member 24) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss | TGATGTTACGTATTTTATTTCCCTTTGTGTCACTTAAAAAGTGGGGTACAATTTAATATGCGACAGGGTACACAAAATGCAGCCTTAAGATGTTAACTTTCAAGTCTCAGTTTTATTTGTGGCTTGCGAATGTAGGATGGCATCTCATTTTTTAGATTATATTATCTGTGACATCCTTTAGCTGACTTCTTTTTGCTTGCCAGTCTTAGGCCTGAATGTCTGACTTGAAATATTTCAAGAAGTTGGGAATGGTAGAAGGGATGTGTATGAAATTCTGAGAGTATGGCAATAGATGAGGTACCCTGAGTGATCTTAAACCA... | TGATGTTACGTATTTTATTTCCCTTTGTGTCACTTAAAAAGTGGGGTACAATTTAATATGCGACAGGGTACACAAAATGCAGCCTTAAGATGTTAACTTTCAAGTCTCAGTTTTATTTGTGGCTTGCGAATGTAGGATGGCATCTCATTTTTTAGATTATATTATCTGTGACATCCTTTAGCTGACTTCTTTTTGCTTGCCAGTCTTAGGCCTGAATGTCTGACTTGAAATATTTCAAGAAGTTGGGAATGGTAGAAGGGATGTGTATGAAATTCTGAGAGTATGGCAATAGATGAGGTACCCTGAGTGATCTTAAACCA... |
Task1_train_7902 | A mutation found in KLHL24 (kelch like family member 24) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | TGATGTTACGTATTTTATTTCCCTTTGTGTCACTTAAAAAGTGGGGTACAATTTAATATGCGACAGGGTACACAAAATGCAGCCTTAAGATGTTAACTTTCAAGTCTCAGTTTTATTTGTGGCTTGCGAATGTAGGATGGCATCTCATTTTTTAGATTATATTATCTGTGACATCCTTTAGCTGACTTCTTTTTGCTTGCCAGTCTTAGGCCTGAATGTCTGACTTGAAATATTTCAAGAAGTTGGGAATGGTAGAAGGGATGTGTATGAAATTCTGAGAGTATGGCAATAGATGAGGTACCCTGAGTGATCTTAAACCA... | TGATGTTACGTATTTTATTTCCCTTTGTGTCACTTAAAAAGTGGGGTACAATTTAATATGCGACAGGGTACACAAAATGCAGCCTTAAGATGTTAACTTTCAAGTCTCAGTTTTATTTGTGGCTTGCGAATGTAGGATGGCATCTCATTTTTTAGATTATATTATCTGTGACATCCTTTAGCTGACTTCTTTTTGCTTGCCAGTCTTAGGCCTGAATGTCTGACTTGAAATATTTCAAGAAGTTGGGAATGGTAGAAGGGATGTGTATGAAATTCTGAGAGTATGGCAATAGATGAGGTACCCTGAGTGATCTTAAACCA... |
Task1_train_7903 | A variant has been detected on Chromosome 3 in KLHL24 (kelch like family member 24). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Epidermolysis bullosa simplex, Koebner type | GATGTTACGTATTTTATTTCCCTTTGTGTCACTTAAAAAGTGGGGTACAATTTAATATGCGACAGGGTACACAAAATGCAGCCTTAAGATGTTAACTTTCAAGTCTCAGTTTTATTTGTGGCTTGCGAATGTAGGATGGCATCTCATTTTTTAGATTATATTATCTGTGACATCCTTTAGCTGACTTCTTTTTGCTTGCCAGTCTTAGGCCTGAATGTCTGACTTGAAATATTTCAAGAAGTTGGGAATGGTAGAAGGGATGTGTATGAAATTCTGAGAGTATGGCAATAGATGAGGTACCCTGAGTGATCTTAAACCAA... | GATGTTACGTATTTTATTTCCCTTTGTGTCACTTAAAAAGTGGGGTACAATTTAATATGCGACAGGGTACACAAAATGCAGCCTTAAGATGTTAACTTTCAAGTCTCAGTTTTATTTGTGGCTTGCGAATGTAGGATGGCATCTCATTTTTTAGATTATATTATCTGTGACATCCTTTAGCTGACTTCTTTTTGCTTGCCAGTCTTAGGCCTGAATGTCTGACTTGAAATATTTCAAGAAGTTGGGAATGGTAGAAGGGATGTGTATGAAATTCTGAGAGTATGGCAATAGATGAGGTACCCTGAGTGATCTTAAACCAA... |
Task1_train_7904 | A variant has been detected on Chromosome 3 in KLHL24 (kelch like family member 24). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Epidermolysis bullosa simplex, Koebner type | ATGTTACGTATTTTATTTCCCTTTGTGTCACTTAAAAAGTGGGGTACAATTTAATATGCGACAGGGTACACAAAATGCAGCCTTAAGATGTTAACTTTCAAGTCTCAGTTTTATTTGTGGCTTGCGAATGTAGGATGGCATCTCATTTTTTAGATTATATTATCTGTGACATCCTTTAGCTGACTTCTTTTTGCTTGCCAGTCTTAGGCCTGAATGTCTGACTTGAAATATTTCAAGAAGTTGGGAATGGTAGAAGGGATGTGTATGAAATTCTGAGAGTATGGCAATAGATGAGGTACCCTGAGTGATCTTAAACCAAT... | ATGTTACGTATTTTATTTCCCTTTGTGTCACTTAAAAAGTGGGGTACAATTTAATATGCGACAGGGTACACAAAATGCAGCCTTAAGATGTTAACTTTCAAGTCTCAGTTTTATTTGTGGCTTGCGAATGTAGGATGGCATCTCATTTTTTAGATTATATTATCTGTGACATCCTTTAGCTGACTTCTTTTTGCTTGCCAGTCTTAGGCCTGAATGTCTGACTTGAAATATTTCAAGAAGTTGGGAATGGTAGAAGGGATGTGTATGAAATTCTGAGAGTATGGCAATAGATGAGGTACCCTGAGTGATCTTAAACCAAT... |
Task1_train_7905 | The gene KLHL24 (kelch like family member 24) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss | ATGTTACGTATTTTATTTCCCTTTGTGTCACTTAAAAAGTGGGGTACAATTTAATATGCGACAGGGTACACAAAATGCAGCCTTAAGATGTTAACTTTCAAGTCTCAGTTTTATTTGTGGCTTGCGAATGTAGGATGGCATCTCATTTTTTAGATTATATTATCTGTGACATCCTTTAGCTGACTTCTTTTTGCTTGCCAGTCTTAGGCCTGAATGTCTGACTTGAAATATTTCAAGAAGTTGGGAATGGTAGAAGGGATGTGTATGAAATTCTGAGAGTATGGCAATAGATGAGGTACCCTGAGTGATCTTAAACCAAT... | ATGTTACGTATTTTATTTCCCTTTGTGTCACTTAAAAAGTGGGGTACAATTTAATATGCGACAGGGTACACAAAATGCAGCCTTAAGATGTTAACTTTCAAGTCTCAGTTTTATTTGTGGCTTGCGAATGTAGGATGGCATCTCATTTTTTAGATTATATTATCTGTGACATCCTTTAGCTGACTTCTTTTTGCTTGCCAGTCTTAGGCCTGAATGTCTGACTTGAAATATTTCAAGAAGTTGGGAATGGTAGAAGGGATGTGTATGAAATTCTGAGAGTATGGCAATAGATGAGGTACCCTGAGTGATCTTAAACCAAT... |
Task1_train_7906 | A variant has been detected on Chromosome 3 in KLHL24 (kelch like family member 24). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Epidermolysis bullosa simplex, Koebner type | ATGTTACGTATTTTATTTCCCTTTGTGTCACTTAAAAAGTGGGGTACAATTTAATATGCGACAGGGTACACAAAATGCAGCCTTAAGATGTTAACTTTCAAGTCTCAGTTTTATTTGTGGCTTGCGAATGTAGGATGGCATCTCATTTTTTAGATTATATTATCTGTGACATCCTTTAGCTGACTTCTTTTTGCTTGCCAGTCTTAGGCCTGAATGTCTGACTTGAAATATTTCAAGAAGTTGGGAATGGTAGAAGGGATGTGTATGAAATTCTGAGAGTATGGCAATAGATGAGGTACCCTGAGTGATCTTAAACCAAT... | ATGTTACGTATTTTATTTCCCTTTGTGTCACTTAAAAAGTGGGGTACAATTTAATATGCGACAGGGTACACAAAATGCAGCCTTAAGATGTTAACTTTCAAGTCTCAGTTTTATTTGTGGCTTGCGAATGTAGGATGGCATCTCATTTTTTAGATTATATTATCTGTGACATCCTTTAGCTGACTTCTTTTTGCTTGCCAGTCTTAGGCCTGAATGTCTGACTTGAAATATTTCAAGAAGTTGGGAATGGTAGAAGGGATGTGTATGAAATTCTGAGAGTATGGCAATAGATGAGGTACCCTGAGTGATCTTAAACCAAT... |
Task1_train_7907 | The following genetic variant occurs in KLHL24 (kelch like family member 24) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies | CATATGTACATCCTATCCCTAGATTCACAGATACATTATTTTTTCTGTTGGCATATGTTTTGTGATCTACTTTTTCACTTACTGTGTGGTTACTACTTCCCCATGTCGTTAAATAGTCATATATAATTTTTAATGGTTGCATAGACTTTGTTCTAGCCAGAAGATGTACTGTGGTTTGACCAATCCCCTCTTATAGGGCATTTAGGTTATTTTGAGTATTTTCTATCAATACAGCATTGGACATCTGCATAGATAAATCTGTCGACATAATTCTGATTATTTCCTTAGGAGAGAGTGCTAAAAAAAAAAAAAGGACTTGC... | CATATGTACATCCTATCCCTAGATTCACAGATACATTATTTTTTCTGTTGGCATATGTTTTGTGATCTACTTTTTCACTTACTGTGTGGTTACTACTTCCCCATGTCGTTAAATAGTCATATATAATTTTTAATGGTTGCATAGACTTTGTTCTAGCCAGAAGATGTACTGTGGTTTGACCAATCCCCTCTTATAGGGCATTTAGGTTATTTTGAGTATTTTCTATCAATACAGCATTGGACATCTGCATAGATAAATCTGTCGACATAATTCTGATTATTTCCTTAGGAGAGAGTGCTAAAAAAAAAAAAAGGACTTGC... |
Task1_train_7908 | Here is a genetic alteration in EIF2B5, LOC129938041 (eukaryotic translation initiation factor 2B subunit epsilon| ATAC-STARR-seq lymphoblastoid silent region 14954) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Leukoencephalopathy with vanishing white matter 5 | TATAAATTTAGGGAAGAAATGAATACCCATCAAATTATTAAGAATGGTTATGACTCTACAAATTGGATAGGATGAAAGAAGTAGGGAAAGGAATTTTTACTTCTTTATGTAGTGTGTGTGAGAGATTATGTATATGTGGTTTCCAATATATTTCAAGTAAGTTTTTAAACAACAACAACAAAAAACAGTTTGAGAGAGTCTTCCTGAAACTCGTCTATTAAAATCATATCCATATAGCTACCAGTCTACAGAATTTTAAGACCTGGATTTACCATAAGCACAAATGCCTTTCGGCAGCGGATTCACCACTTCCCAACTTC... | TATAAATTTAGGGAAGAAATGAATACCCATCAAATTATTAAGAATGGTTATGACTCTACAAATTGGATAGGATGAAAGAAGTAGGGAAAGGAATTTTTACTTCTTTATGTAGTGTGTGTGAGAGATTATGTATATGTGGTTTCCAATATATTTCAAGTAAGTTTTTAAACAACAACAACAAAAAACAGTTTGAGAGAGTCTTCCTGAAACTCGTCTATTAAAATCATATCCATATAGCTACCAGTCTACAGAATTTTAAGACCTGGATTTACCATAAGCACAAATGCCTTTCGGCAGCGGATTCACCACTTCCCAACTTC... |
Task1_train_7909 | This genomic variant is located on Chromosome 3, within the EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; EIF2B5-related disorder | TTAAGACACAGGAGGCTGATAGGCTGGAAGAATGAATAGATGACATAAAATAGTCATTGTTATCCCCACATAACTTGGCAGCAAGATTGTGGAACTCTGCAGTCAGACAGATCGGGTTCCAATACCAGTTCTTCCACTTACTAGCTGGGTAAACTTCCTTCATCCTTCTGAGAGTTCAAGAAACGTTTGCTGAACGAATGAATAAGATGTTTTGCAGAGATAATGCTTGTATCGTGCCTGGCCCAAAATCAGCGCTCAATGGAATTACTGGTCTCCCTACTATATGCCTGCCACCTTCTCTATTTATGCAGGTTCTGAGT... | TTAAGACACAGGAGGCTGATAGGCTGGAAGAATGAATAGATGACATAAAATAGTCATTGTTATCCCCACATAACTTGGCAGCAAGATTGTGGAACTCTGCAGTCAGACAGATCGGGTTCCAATACCAGTTCTTCCACTTACTAGCTGGGTAAACTTCCTTCATCCTTCTGAGAGTTCAAGAAACGTTTGCTGAACGAATGAATAAGATGTTTTGCAGAGATAATGCTTGTATCGTGCCTGGCCCAAAATCAGCGCTCAATGGAATTACTGGTCTCCCTACTATATGCCTGCCACCTTCTCTATTTATGCAGGTTCTGAGT... |
Task1_train_7910 | The gene EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Leukoencephalopathy with vanishing white matter 5 | TTAAGACACAGGAGGCTGATAGGCTGGAAGAATGAATAGATGACATAAAATAGTCATTGTTATCCCCACATAACTTGGCAGCAAGATTGTGGAACTCTGCAGTCAGACAGATCGGGTTCCAATACCAGTTCTTCCACTTACTAGCTGGGTAAACTTCCTTCATCCTTCTGAGAGTTCAAGAAACGTTTGCTGAACGAATGAATAAGATGTTTTGCAGAGATAATGCTTGTATCGTGCCTGGCCCAAAATCAGCGCTCAATGGAATTACTGGTCTCCCTACTATATGCCTGCCACCTTCTCTATTTATGCAGGTTCTGAGT... | TTAAGACACAGGAGGCTGATAGGCTGGAAGAATGAATAGATGACATAAAATAGTCATTGTTATCCCCACATAACTTGGCAGCAAGATTGTGGAACTCTGCAGTCAGACAGATCGGGTTCCAATACCAGTTCTTCCACTTACTAGCTGGGTAAACTTCCTTCATCCTTCTGAGAGTTCAAGAAACGTTTGCTGAACGAATGAATAAGATGTTTTGCAGAGATAATGCTTGTATCGTGCCTGGCCCAAAATCAGCGCTCAATGGAATTACTGGTCTCCCTACTATATGCCTGCCACCTTCTCTATTTATGCAGGTTCTGAGT... |
Task1_train_7911 | Given this variant in gene EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | CTGATAGGCTGGAAGAATGAATAGATGACATAAAATAGTCATTGTTATCCCCACATAACTTGGCAGCAAGATTGTGGAACTCTGCAGTCAGACAGATCGGGTTCCAATACCAGTTCTTCCACTTACTAGCTGGGTAAACTTCCTTCATCCTTCTGAGAGTTCAAGAAACGTTTGCTGAACGAATGAATAAGATGTTTTGCAGAGATAATGCTTGTATCGTGCCTGGCCCAAAATCAGCGCTCAATGGAATTACTGGTCTCCCTACTATATGCCTGCCACCTTCTCTATTTATGCAGGTTCTGAGTTCCTCGCAGCGGGGG... | CTGATAGGCTGGAAGAATGAATAGATGACATAAAATAGTCATTGTTATCCCCACATAACTTGGCAGCAAGATTGTGGAACTCTGCAGTCAGACAGATCGGGTTCCAATACCAGTTCTTCCACTTACTAGCTGGGTAAACTTCCTTCATCCTTCTGAGAGTTCAAGAAACGTTTGCTGAACGAATGAATAAGATGTTTTGCAGAGATAATGCTTGTATCGTGCCTGGCCCAAAATCAGCGCTCAATGGAATTACTGGTCTCCCTACTATATGCCTGCCACCTTCTCTATTTATGCAGGTTCTGAGTTCCTCGCAGCGGGGG... |
Task1_train_7912 | With a mutation on Chromosome 3 in gene EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Vanishing white matter disease | GATGACATAAAATAGTCATTGTTATCCCCACATAACTTGGCAGCAAGATTGTGGAACTCTGCAGTCAGACAGATCGGGTTCCAATACCAGTTCTTCCACTTACTAGCTGGGTAAACTTCCTTCATCCTTCTGAGAGTTCAAGAAACGTTTGCTGAACGAATGAATAAGATGTTTTGCAGAGATAATGCTTGTATCGTGCCTGGCCCAAAATCAGCGCTCAATGGAATTACTGGTCTCCCTACTATATGCCTGCCACCTTCTCTATTTATGCAGGTTCTGAGTTCCTCGCAGCGGGGGAACATCTGGCTCGGTTCTATCTC... | GATGACATAAAATAGTCATTGTTATCCCCACATAACTTGGCAGCAAGATTGTGGAACTCTGCAGTCAGACAGATCGGGTTCCAATACCAGTTCTTCCACTTACTAGCTGGGTAAACTTCCTTCATCCTTCTGAGAGTTCAAGAAACGTTTGCTGAACGAATGAATAAGATGTTTTGCAGAGATAATGCTTGTATCGTGCCTGGCCCAAAATCAGCGCTCAATGGAATTACTGGTCTCCCTACTATATGCCTGCCACCTTCTCTATTTATGCAGGTTCTGAGTTCCTCGCAGCGGGGGAACATCTGGCTCGGTTCTATCTC... |
Task1_train_7913 | This is a variant in EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; See cases | CGCGCACGCGAGCAGCCAGAGGGCAGGAAGGGTGGCAGGGCTGGAGCAAGTTCTCATTTCGGCTAACTACAACAGCATGCCCTTGAAGGACCTGCGTCTATGCTGTTATCCTAAAACCGGATGCAGAGGGACTGTCTAAACCCTGATGACTGCTGACCAAGTTAGTGGCCGGCAGATTTGGGCATTCGTAATGCTGTCCACCTCGGGTTTGAAAGGAATGAAGAGAGCTAAATGTAGAAACAGCGCTTGAGAGAAGCCTTCACGCGGGGATTCAGTGCCCCTAGAAGAGGCTGCGCCGCTTTTAACCTTGCCGATGACGG... | CGCGCACGCGAGCAGCCAGAGGGCAGGAAGGGTGGCAGGGCTGGAGCAAGTTCTCATTTCGGCTAACTACAACAGCATGCCCTTGAAGGACCTGCGTCTATGCTGTTATCCTAAAACCGGATGCAGAGGGACTGTCTAAACCCTGATGACTGCTGACCAAGTTAGTGGCCGGCAGATTTGGGCATTCGTAATGCTGTCCACCTCGGGTTTGAAAGGAATGAAGAGAGCTAAATGTAGAAACAGCGCTTGAGAGAAGCCTTCACGCGGGGATTCAGTGCCCCTAGAAGAGGCTGCGCCGCTTTTAACCTTGCCGATGACGG... |
Task1_train_7914 | With a mutation on Chromosome 3 in gene EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Leukoencephalopathy with vanishing white matter 5 | CGCGCACGCGAGCAGCCAGAGGGCAGGAAGGGTGGCAGGGCTGGAGCAAGTTCTCATTTCGGCTAACTACAACAGCATGCCCTTGAAGGACCTGCGTCTATGCTGTTATCCTAAAACCGGATGCAGAGGGACTGTCTAAACCCTGATGACTGCTGACCAAGTTAGTGGCCGGCAGATTTGGGCATTCGTAATGCTGTCCACCTCGGGTTTGAAAGGAATGAAGAGAGCTAAATGTAGAAACAGCGCTTGAGAGAAGCCTTCACGCGGGGATTCAGTGCCCCTAGAAGAGGCTGCGCCGCTTTTAACCTTGCCGATGACGG... | CGCGCACGCGAGCAGCCAGAGGGCAGGAAGGGTGGCAGGGCTGGAGCAAGTTCTCATTTCGGCTAACTACAACAGCATGCCCTTGAAGGACCTGCGTCTATGCTGTTATCCTAAAACCGGATGCAGAGGGACTGTCTAAACCCTGATGACTGCTGACCAAGTTAGTGGCCGGCAGATTTGGGCATTCGTAATGCTGTCCACCTCGGGTTTGAAAGGAATGAAGAGAGCTAAATGTAGAAACAGCGCTTGAGAGAAGCCTTCACGCGGGGATTCAGTGCCCCTAGAAGAGGCTGCGCCGCTTTTAACCTTGCCGATGACGG... |
Task1_train_7915 | Here’s a variant in EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Vanishing white matter disease | CGCGCACGCGAGCAGCCAGAGGGCAGGAAGGGTGGCAGGGCTGGAGCAAGTTCTCATTTCGGCTAACTACAACAGCATGCCCTTGAAGGACCTGCGTCTATGCTGTTATCCTAAAACCGGATGCAGAGGGACTGTCTAAACCCTGATGACTGCTGACCAAGTTAGTGGCCGGCAGATTTGGGCATTCGTAATGCTGTCCACCTCGGGTTTGAAAGGAATGAAGAGAGCTAAATGTAGAAACAGCGCTTGAGAGAAGCCTTCACGCGGGGATTCAGTGCCCCTAGAAGAGGCTGCGCCGCTTTTAACCTTGCCGATGACGG... | CGCGCACGCGAGCAGCCAGAGGGCAGGAAGGGTGGCAGGGCTGGAGCAAGTTCTCATTTCGGCTAACTACAACAGCATGCCCTTGAAGGACCTGCGTCTATGCTGTTATCCTAAAACCGGATGCAGAGGGACTGTCTAAACCCTGATGACTGCTGACCAAGTTAGTGGCCGGCAGATTTGGGCATTCGTAATGCTGTCCACCTCGGGTTTGAAAGGAATGAAGAGAGCTAAATGTAGAAACAGCGCTTGAGAGAAGCCTTCACGCGGGGATTCAGTGCCCCTAGAAGAGGCTGCGCCGCTTTTAACCTTGCCGATGACGG... |
Task1_train_7916 | This gene mutation involves EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Inborn genetic diseases | CGCGCACGCGAGCAGCCAGAGGGCAGGAAGGGTGGCAGGGCTGGAGCAAGTTCTCATTTCGGCTAACTACAACAGCATGCCCTTGAAGGACCTGCGTCTATGCTGTTATCCTAAAACCGGATGCAGAGGGACTGTCTAAACCCTGATGACTGCTGACCAAGTTAGTGGCCGGCAGATTTGGGCATTCGTAATGCTGTCCACCTCGGGTTTGAAAGGAATGAAGAGAGCTAAATGTAGAAACAGCGCTTGAGAGAAGCCTTCACGCGGGGATTCAGTGCCCCTAGAAGAGGCTGCGCCGCTTTTAACCTTGCCGATGACGG... | CGCGCACGCGAGCAGCCAGAGGGCAGGAAGGGTGGCAGGGCTGGAGCAAGTTCTCATTTCGGCTAACTACAACAGCATGCCCTTGAAGGACCTGCGTCTATGCTGTTATCCTAAAACCGGATGCAGAGGGACTGTCTAAACCCTGATGACTGCTGACCAAGTTAGTGGCCGGCAGATTTGGGCATTCGTAATGCTGTCCACCTCGGGTTTGAAAGGAATGAAGAGAGCTAAATGTAGAAACAGCGCTTGAGAGAAGCCTTCACGCGGGGATTCAGTGCCCCTAGAAGAGGCTGCGCCGCTTTTAACCTTGCCGATGACGG... |
Task1_train_7917 | A genetic alteration is present in EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | ACAACAGCATGCCCTTGAAGGACCTGCGTCTATGCTGTTATCCTAAAACCGGATGCAGAGGGACTGTCTAAACCCTGATGACTGCTGACCAAGTTAGTGGCCGGCAGATTTGGGCATTCGTAATGCTGTCCACCTCGGGTTTGAAAGGAATGAAGAGAGCTAAATGTAGAAACAGCGCTTGAGAGAAGCCTTCACGCGGGGATTCAGTGCCCCTAGAAGAGGCTGCGCCGCTTTTAACCTTGCCGATGACGGTTGCTTAGGTGAAAAGAAACGACCTTTTGCCTCTGAAAGGGCGGTAATATGCCTTAAAAAGAGCGGGC... | ACAACAGCATGCCCTTGAAGGACCTGCGTCTATGCTGTTATCCTAAAACCGGATGCAGAGGGACTGTCTAAACCCTGATGACTGCTGACCAAGTTAGTGGCCGGCAGATTTGGGCATTCGTAATGCTGTCCACCTCGGGTTTGAAAGGAATGAAGAGAGCTAAATGTAGAAACAGCGCTTGAGAGAAGCCTTCACGCGGGGATTCAGTGCCCCTAGAAGAGGCTGCGCCGCTTTTAACCTTGCCGATGACGGTTGCTTAGGTGAAAAGAAACGACCTTTTGCCTCTGAAAGGGCGGTAATATGCCTTAAAAAGAGCGGGC... |
Task1_train_7918 | A change on Chromosome 3 affects gene EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Vanishing white matter disease | CAACAGCATGCCCTTGAAGGACCTGCGTCTATGCTGTTATCCTAAAACCGGATGCAGAGGGACTGTCTAAACCCTGATGACTGCTGACCAAGTTAGTGGCCGGCAGATTTGGGCATTCGTAATGCTGTCCACCTCGGGTTTGAAAGGAATGAAGAGAGCTAAATGTAGAAACAGCGCTTGAGAGAAGCCTTCACGCGGGGATTCAGTGCCCCTAGAAGAGGCTGCGCCGCTTTTAACCTTGCCGATGACGGTTGCTTAGGTGAAAAGAAACGACCTTTTGCCTCTGAAAGGGCGGTAATATGCCTTAAAAAGAGCGGGCT... | CAACAGCATGCCCTTGAAGGACCTGCGTCTATGCTGTTATCCTAAAACCGGATGCAGAGGGACTGTCTAAACCCTGATGACTGCTGACCAAGTTAGTGGCCGGCAGATTTGGGCATTCGTAATGCTGTCCACCTCGGGTTTGAAAGGAATGAAGAGAGCTAAATGTAGAAACAGCGCTTGAGAGAAGCCTTCACGCGGGGATTCAGTGCCCCTAGAAGAGGCTGCGCCGCTTTTAACCTTGCCGATGACGGTTGCTTAGGTGAAAAGAAACGACCTTTTGCCTCTGAAAGGGCGGTAATATGCCTTAAAAAGAGCGGGCT... |
Task1_train_7919 | This variant affects gene EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | ACGACCTTTTGCCTCTGAAAGGGCGGTAATATGCCTTAAAAAGAGCGGGCTAGATCTCAGGCAGTGTATTTTTTTTTTCCTTCCAGGTTCTAATGATAGCCGGTGCTATCTGTCGAAAGGACAAAATGGGTTTAGTGGTTGATTGCCATCAGCCCCCGAGTTGTCTAGACAATGGGGTATTGGACTCAGCTGGGTCGTTCAGCAGTCAGTTCAGAAAGAGGGAACTGCATTGGATTTAAGGAAAATCCTCTCTAATTCCCTCGAAAAAGCCTAATGGCTGTTCATTTTTGACAAGTGACGGGAGATGGCTAACCTCTGAC... | ACGACCTTTTGCCTCTGAAAGGGCGGTAATATGCCTTAAAAAGAGCGGGCTAGATCTCAGGCAGTGTATTTTTTTTTTCCTTCCAGGTTCTAATGATAGCCGGTGCTATCTGTCGAAAGGACAAAATGGGTTTAGTGGTTGATTGCCATCAGCCCCCGAGTTGTCTAGACAATGGGGTATTGGACTCAGCTGGGTCGTTCAGCAGTCAGTTCAGAAAGAGGGAACTGCATTGGATTTAAGGAAAATCCTCTCTAATTCCCTCGAAAAAGCCTAATGGCTGTTCATTTTTGACAAGTGACGGGAGATGGCTAACCTCTGAC... |
Task1_train_7920 | The gene EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Vanishing white matter disease | TCTGGTGTGTGGATATCTGGGGTCCTTTGAGATGGGGAAGTGACAGGCTTCAGTGGGAGAAACAAATTAAAGTCCTTGTAACTTCTCCCCACAGAGCCTGTTTCAGGGCAGTAGTGATGGAGTGGAGGTTCGATATGATTTACTGGATTGTCATATCAGCATCTGTTCTCCTCAGGTGAGCTCTTTAGGGCTGGGGCTGCACACCCAAAGAGTAGAACTCTGTGGGTCTGTTATTGTCCCCTTAGAAGGCCAGGGTATATTTCTTCTCCCTGTTTATTTTCATTATTTTTACTTTTATTTTTTGAGACAGAGTCTCGCTC... | TCTGGTGTGTGGATATCTGGGGTCCTTTGAGATGGGGAAGTGACAGGCTTCAGTGGGAGAAACAAATTAAAGTCCTTGTAACTTCTCCCCACAGAGCCTGTTTCAGGGCAGTAGTGATGGAGTGGAGGTTCGATATGATTTACTGGATTGTCATATCAGCATCTGTTCTCCTCAGGTGAGCTCTTTAGGGCTGGGGCTGCACACCCAAAGAGTAGAACTCTGTGGGTCTGTTATTGTCCCCTTAGAAGGCCAGGGTATATTTCTTCTCCCTGTTTATTTTCATTATTTTTACTTTTATTTTTTGAGACAGAGTCTCGCTC... |
Task1_train_7921 | A mutation on Chromosome 3 affecting EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Leukoencephalopathy with vanishing white matter 1 | TCTGGTGTGTGGATATCTGGGGTCCTTTGAGATGGGGAAGTGACAGGCTTCAGTGGGAGAAACAAATTAAAGTCCTTGTAACTTCTCCCCACAGAGCCTGTTTCAGGGCAGTAGTGATGGAGTGGAGGTTCGATATGATTTACTGGATTGTCATATCAGCATCTGTTCTCCTCAGGTGAGCTCTTTAGGGCTGGGGCTGCACACCCAAAGAGTAGAACTCTGTGGGTCTGTTATTGTCCCCTTAGAAGGCCAGGGTATATTTCTTCTCCCTGTTTATTTTCATTATTTTTACTTTTATTTTTTGAGACAGAGTCTCGCTC... | TCTGGTGTGTGGATATCTGGGGTCCTTTGAGATGGGGAAGTGACAGGCTTCAGTGGGAGAAACAAATTAAAGTCCTTGTAACTTCTCCCCACAGAGCCTGTTTCAGGGCAGTAGTGATGGAGTGGAGGTTCGATATGATTTACTGGATTGTCATATCAGCATCTGTTCTCCTCAGGTGAGCTCTTTAGGGCTGGGGCTGCACACCCAAAGAGTAGAACTCTGTGGGTCTGTTATTGTCCCCTTAGAAGGCCAGGGTATATTTCTTCTCCCTGTTTATTTTCATTATTTTTACTTTTATTTTTTGAGACAGAGTCTCGCTC... |
Task1_train_7922 | A sequence alteration has been identified in EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Leukoencephalopathy with vanishing white matter 5 | TCTGGTGTGTGGATATCTGGGGTCCTTTGAGATGGGGAAGTGACAGGCTTCAGTGGGAGAAACAAATTAAAGTCCTTGTAACTTCTCCCCACAGAGCCTGTTTCAGGGCAGTAGTGATGGAGTGGAGGTTCGATATGATTTACTGGATTGTCATATCAGCATCTGTTCTCCTCAGGTGAGCTCTTTAGGGCTGGGGCTGCACACCCAAAGAGTAGAACTCTGTGGGTCTGTTATTGTCCCCTTAGAAGGCCAGGGTATATTTCTTCTCCCTGTTTATTTTCATTATTTTTACTTTTATTTTTTGAGACAGAGTCTCGCTC... | TCTGGTGTGTGGATATCTGGGGTCCTTTGAGATGGGGAAGTGACAGGCTTCAGTGGGAGAAACAAATTAAAGTCCTTGTAACTTCTCCCCACAGAGCCTGTTTCAGGGCAGTAGTGATGGAGTGGAGGTTCGATATGATTTACTGGATTGTCATATCAGCATCTGTTCTCCTCAGGTGAGCTCTTTAGGGCTGGGGCTGCACACCCAAAGAGTAGAACTCTGTGGGTCTGTTATTGTCCCCTTAGAAGGCCAGGGTATATTTCTTCTCCCTGTTTATTTTCATTATTTTTACTTTTATTTTTTGAGACAGAGTCTCGCTC... |
Task1_train_7923 | The gene EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hereditary breast ovarian cancer syndrome | TCTGGTGTGTGGATATCTGGGGTCCTTTGAGATGGGGAAGTGACAGGCTTCAGTGGGAGAAACAAATTAAAGTCCTTGTAACTTCTCCCCACAGAGCCTGTTTCAGGGCAGTAGTGATGGAGTGGAGGTTCGATATGATTTACTGGATTGTCATATCAGCATCTGTTCTCCTCAGGTGAGCTCTTTAGGGCTGGGGCTGCACACCCAAAGAGTAGAACTCTGTGGGTCTGTTATTGTCCCCTTAGAAGGCCAGGGTATATTTCTTCTCCCTGTTTATTTTCATTATTTTTACTTTTATTTTTTGAGACAGAGTCTCGCTC... | TCTGGTGTGTGGATATCTGGGGTCCTTTGAGATGGGGAAGTGACAGGCTTCAGTGGGAGAAACAAATTAAAGTCCTTGTAACTTCTCCCCACAGAGCCTGTTTCAGGGCAGTAGTGATGGAGTGGAGGTTCGATATGATTTACTGGATTGTCATATCAGCATCTGTTCTCCTCAGGTGAGCTCTTTAGGGCTGGGGCTGCACACCCAAAGAGTAGAACTCTGTGGGTCTGTTATTGTCCCCTTAGAAGGCCAGGGTATATTTCTTCTCCCTGTTTATTTTCATTATTTTTACTTTTATTTTTTGAGACAGAGTCTCGCTC... |
Task1_train_7924 | The gene EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Leukoencephalopathy with vanishing white matter 5 | TGGTGTGTGGATATCTGGGGTCCTTTGAGATGGGGAAGTGACAGGCTTCAGTGGGAGAAACAAATTAAAGTCCTTGTAACTTCTCCCCACAGAGCCTGTTTCAGGGCAGTAGTGATGGAGTGGAGGTTCGATATGATTTACTGGATTGTCATATCAGCATCTGTTCTCCTCAGGTGAGCTCTTTAGGGCTGGGGCTGCACACCCAAAGAGTAGAACTCTGTGGGTCTGTTATTGTCCCCTTAGAAGGCCAGGGTATATTTCTTCTCCCTGTTTATTTTCATTATTTTTACTTTTATTTTTTGAGACAGAGTCTCGCTCTG... | TGGTGTGTGGATATCTGGGGTCCTTTGAGATGGGGAAGTGACAGGCTTCAGTGGGAGAAACAAATTAAAGTCCTTGTAACTTCTCCCCACAGAGCCTGTTTCAGGGCAGTAGTGATGGAGTGGAGGTTCGATATGATTTACTGGATTGTCATATCAGCATCTGTTCTCCTCAGGTGAGCTCTTTAGGGCTGGGGCTGCACACCCAAAGAGTAGAACTCTGTGGGTCTGTTATTGTCCCCTTAGAAGGCCAGGGTATATTTCTTCTCCCTGTTTATTTTCATTATTTTTACTTTTATTTTTTGAGACAGAGTCTCGCTCTG... |
Task1_train_7925 | A sequence alteration has been identified in EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Vanishing white matter disease | GGTGTGATCCCAGCTCACTGCAGACTCTGCCTCCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGTCTCAAGTGATCTACCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTGGCCTTATTTTCATTTTTATTTATATATATTTTTTGAGACAGGGTCTCGCTCTGTGGCCCAGGCTGGAGCACAGTGGCACCATG... | GGTGTGATCCCAGCTCACTGCAGACTCTGCCTCCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGTCTCAAGTGATCTACCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTGGCCTTATTTTCATTTTTATTTATATATATTTTTTGAGACAGGGTCTCGCTCTGTGGCCCAGGCTGGAGCACAGTGGCACCATG... |
Task1_train_7926 | This alteration in EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Vanishing white matter disease | GGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGTCTCAAGTGATCTACCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTGGCCTTATTTTCATTTTTATTTATATATATTTTTTGAGACAGGGTCTCGCTCTGTGGCCCAGGCTGGAGCACAGTGGCACCATGACTGCTCACTGCAGCCTCAGCCTCCCAGGTTCAAGG... | GGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGTCTCAAGTGATCTACCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTGGCCTTATTTTCATTTTTATTTATATATATTTTTTGAGACAGGGTCTCGCTCTGTGGCCCAGGCTGGAGCACAGTGGCACCATGACTGCTCACTGCAGCCTCAGCCTCCCAGGTTCAAGG... |
Task1_train_7927 | A mutation on Chromosome 3 affecting EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Vanishing white matter disease | GCCTCAGCCTCCTGAGTAGCAGGGATTACAGGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGTCTCAAGTGATCTACCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTGGCCTTATTTTCATTTTTATTTATATATATTTTTTGAGACAGGGTCTCGCTCTGTGGCCCAGGCTGGAGCACAGTGGCACCATGACTGCTCACTGCAGCCTCAGCCTCCCAGGTTCAAGGGAACCTCCTGCCTCAGCC... | GCCTCAGCCTCCTGAGTAGCAGGGATTACAGGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGTCTCAAGTGATCTACCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTGGCCTTATTTTCATTTTTATTTATATATATTTTTTGAGACAGGGTCTCGCTCTGTGGCCCAGGCTGGAGCACAGTGGCACCATGACTGCTCACTGCAGCCTCAGCCTCCCAGGTTCAAGGGAACCTCCTGCCTCAGCC... |
Task1_train_7928 | Given this context: Chromosome 3, gene EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | ATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGTCTCAAGTGATCTACCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTGGCCTTATTTTCATTTTTATTTATATATATTTTTTGAGACAGGGTCTCGCTCTGTGGCCCAGGCTGGAGCACAGTGGCACCATGACTGCTCACTGCAGCCTCAGCCTCCCAGGTTCAAGGGAACCTCCTGCCTCAGCCTCCTGAGTAGATGGAACCACAGGCATGCACTACCACTAATTTTTGTATTTTTTTGTAGAGACGGGGTTTTGCC... | ATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGTCTCAAGTGATCTACCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTGGCCTTATTTTCATTTTTATTTATATATATTTTTTGAGACAGGGTCTCGCTCTGTGGCCCAGGCTGGAGCACAGTGGCACCATGACTGCTCACTGCAGCCTCAGCCTCCCAGGTTCAAGGGAACCTCCTGCCTCAGCCTCCTGAGTAGATGGAACCACAGGCATGCACTACCACTAATTTTTGTATTTTTTTGTAGAGACGGGGTTTTGCC... |
Task1_train_7929 | Here’s a variant in EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Leukoencephalopathy with vanishing white matter 5 | GCTGGGCGTGGTGGCGGACGCTTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTTAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCAACTGCACTCCAGCCTGGGCAACAGAGCTAGACTTGTCTCAAAAAAAAAAAAAAAAGAATAGTACTTAATTCTAGCCCACTCCACTTCCCTTCCACAGGTGGCACAACTCTTTACAGACAACTTTGACTACCAAACTCGAGATGACTTTGTGCGAGGTCTCTTAGTGAATGAGGAGGTGAGAAAAGTCTTCCAATGCCTCTTTAGGAGAGAGGAG... | GCTGGGCGTGGTGGCGGACGCTTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTTAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCAACTGCACTCCAGCCTGGGCAACAGAGCTAGACTTGTCTCAAAAAAAAAAAAAAAAGAATAGTACTTAATTCTAGCCCACTCCACTTCCCTTCCACAGGTGGCACAACTCTTTACAGACAACTTTGACTACCAAACTCGAGATGACTTTGTGCGAGGTCTCTTAGTGAATGAGGAGGTGAGAAAAGTCTTCCAATGCCTCTTTAGGAGAGAGGAG... |
Task1_train_7930 | The gene EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | CTAGACTTGTCTCAAAAAAAAAAAAAAAAGAATAGTACTTAATTCTAGCCCACTCCACTTCCCTTCCACAGGTGGCACAACTCTTTACAGACAACTTTGACTACCAAACTCGAGATGACTTTGTGCGAGGTCTCTTAGTGAATGAGGAGGTGAGAAAAGTCTTCCAATGCCTCTTTAGGAGAGAGGAGAAGGCTATGATTGTATCTCATGCTGGTAACTTTTGATCTTTTTTGTATTTTATTGAGGCTTAGGAGGGAGGAAAAGCAGGGGACAGGAGGAACAGTACACAAAGAAGAATCTTTGTGGCAGTGAGAGGCAGA... | CTAGACTTGTCTCAAAAAAAAAAAAAAAAGAATAGTACTTAATTCTAGCCCACTCCACTTCCCTTCCACAGGTGGCACAACTCTTTACAGACAACTTTGACTACCAAACTCGAGATGACTTTGTGCGAGGTCTCTTAGTGAATGAGGAGGTGAGAAAAGTCTTCCAATGCCTCTTTAGGAGAGAGGAGAAGGCTATGATTGTATCTCATGCTGGTAACTTTTGATCTTTTTTGTATTTTATTGAGGCTTAGGAGGGAGGAAAAGCAGGGGACAGGAGGAACAGTACACAAAGAAGAATCTTTGTGGCAGTGAGAGGCAGA... |
Task1_train_7931 | This alteration in EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Leukoencephalopathy with vanishing white matter 5 | CTTCCCAGGTGAGACCTGATCTATACTGTGCACAGGCCCTGAATTGCATGGCAGTCACACTGAGCCAGAAGGGGCATTATTTCCACCCATAATCCTGTCTAAAAAAGTTGCTCTCATTATCAGGATGCACTTTTCCTCCACACCCTAATGGTTCTGTGTTTTTTTTCCCCTTAGGTGGTCGTGGGCCCAAATATCACGCTGCCTGAGGGCTCGGTGATCTCTTTGCACCCTCCAGATGCAGAGGAAGATGAAGATGATGGCGAGTTCAGTGATGATTCTGGGGCTGACCAAGAAAAGGACAAAGTGAAGATGAAAGGTGT... | CTTCCCAGGTGAGACCTGATCTATACTGTGCACAGGCCCTGAATTGCATGGCAGTCACACTGAGCCAGAAGGGGCATTATTTCCACCCATAATCCTGTCTAAAAAAGTTGCTCTCATTATCAGGATGCACTTTTCCTCCACACCCTAATGGTTCTGTGTTTTTTTTCCCCTTAGGTGGTCGTGGGCCCAAATATCACGCTGCCTGAGGGCTCGGTGATCTCTTTGCACCCTCCAGATGCAGAGGAAGATGAAGATGATGGCGAGTTCAGTGATGATTCTGGGGCTGACCAAGAAAAGGACAAAGTGAAGATGAAAGGTGT... |
Task1_train_7932 | An alteration has been detected in EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Vanishing white matter disease | TGAACATGGAGGAAGAGGAGGAACTGCAGCAGAATCTGTGGGGTGAGCTAGGCCTGATGCCTGCCCTTCTCCTCCTGAATCGGAATATTTTGAAGGATAATGAATACTTCAGAGTCACATTACTTATTCACTCCTTTATTCAGGCAGACAGGGCAGGTATATTGCTCTCTGTCAATGACTCTTTTTTTCTTTTTCCTCACCCATTATGGCTTCTCAGGACTCAAGATCAACATGGAAGAAGAGAGTGAAAGTGAAAGTGAGCAAAGTATGGATTCTGAGGAGCCGGACAGCCGGGGAGGCTCCCCTCAGATGGATGACAT... | TGAACATGGAGGAAGAGGAGGAACTGCAGCAGAATCTGTGGGGTGAGCTAGGCCTGATGCCTGCCCTTCTCCTCCTGAATCGGAATATTTTGAAGGATAATGAATACTTCAGAGTCACATTACTTATTCACTCCTTTATTCAGGCAGACAGGGCAGGTATATTGCTCTCTGTCAATGACTCTTTTTTTCTTTTTCCTCACCCATTATGGCTTCTCAGGACTCAAGATCAACATGGAAGAAGAGAGTGAAAGTGAAAGTGAGCAAAGTATGGATTCTGAGGAGCCGGACAGCCGGGGAGGCTCCCCTCAGATGGATGACAT... |
Task1_train_7933 | This gene mutation involves ALG3 (ALG3 alpha-1,3- mannosyltransferase) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; ALG3-congenital disorder of glycosylation | CCACAGACTGCTCCTTGGTTCCACAGGCCATGCCCGGAGGTGCTGGCTTCGAGCCCTTCAGACAAGTAAGGTCAGCTCTGCCCCCTCCTGCTTCACTTGCCCTGTAGCTGTGGATGCTACTACTAGGGAGGTCCTGCCTGGGGCCCTGCAGGTGTGCAGCTCAGGTAGGGGCCTCTTCTGGTGACCTCTCAGGTGCAGCTCTCACCTCACTGGCCACTCTCCTGGACAAACCTGACTCCTGTCCCATGTGCCCCTGCAGAGCCCGCTGAGCCCCCAGGAACCCCTCCTGCCTCTCACAGCCATCTAGATGCAGCTCCTCT... | CCACAGACTGCTCCTTGGTTCCACAGGCCATGCCCGGAGGTGCTGGCTTCGAGCCCTTCAGACAAGTAAGGTCAGCTCTGCCCCCTCCTGCTTCACTTGCCCTGTAGCTGTGGATGCTACTACTAGGGAGGTCCTGCCTGGGGCCCTGCAGGTGTGCAGCTCAGGTAGGGGCCTCTTCTGGTGACCTCTCAGGTGCAGCTCTCACCTCACTGGCCACTCTCCTGGACAAACCTGACTCCTGTCCCATGTGCCCCTGCAGAGCCCGCTGAGCCCCCAGGAACCCCTCCTGCCTCTCACAGCCATCTAGATGCAGCTCCTCT... |
Task1_train_7934 | A variant was discovered on Chromosome 3, affecting ALG3 (ALG3 alpha-1,3- mannosyltransferase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; ALG3-congenital disorder of glycosylation | CACTTGCCCTGTAGCTGTGGATGCTACTACTAGGGAGGTCCTGCCTGGGGCCCTGCAGGTGTGCAGCTCAGGTAGGGGCCTCTTCTGGTGACCTCTCAGGTGCAGCTCTCACCTCACTGGCCACTCTCCTGGACAAACCTGACTCCTGTCCCATGTGCCCCTGCAGAGCCCGCTGAGCCCCCAGGAACCCCTCCTGCCTCTCACAGCCATCTAGATGCAGCTCCTCTGCCCACTGTTGTCTACTCTAAAGGTAACACCCAAAGGTAGGGAAAGGGTAGGGGCACTTGGGCTTAGAGACCGCCCCCTGGCACTGATGATCC... | CACTTGCCCTGTAGCTGTGGATGCTACTACTAGGGAGGTCCTGCCTGGGGCCCTGCAGGTGTGCAGCTCAGGTAGGGGCCTCTTCTGGTGACCTCTCAGGTGCAGCTCTCACCTCACTGGCCACTCTCCTGGACAAACCTGACTCCTGTCCCATGTGCCCCTGCAGAGCCCGCTGAGCCCCCAGGAACCCCTCCTGCCTCTCACAGCCATCTAGATGCAGCTCCTCTGCCCACTGTTGTCTACTCTAAAGGTAACACCCAAAGGTAGGGAAAGGGTAGGGGCACTTGGGCTTAGAGACCGCCCCCTGGCACTGATGATCC... |
Task1_train_7935 | Gene ALG3 (ALG3 alpha-1,3- mannosyltransferase) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; ALG3-congenital disorder of glycosylation | TACTACTAGGGAGGTCCTGCCTGGGGCCCTGCAGGTGTGCAGCTCAGGTAGGGGCCTCTTCTGGTGACCTCTCAGGTGCAGCTCTCACCTCACTGGCCACTCTCCTGGACAAACCTGACTCCTGTCCCATGTGCCCCTGCAGAGCCCGCTGAGCCCCCAGGAACCCCTCCTGCCTCTCACAGCCATCTAGATGCAGCTCCTCTGCCCACTGTTGTCTACTCTAAAGGTAACACCCAAAGGTAGGGAAAGGGTAGGGGCACTTGGGCTTAGAGACCGCCCCCTGGCACTGATGATCCCCACTGCAGGACTTCAGAGAGGCT... | TACTACTAGGGAGGTCCTGCCTGGGGCCCTGCAGGTGTGCAGCTCAGGTAGGGGCCTCTTCTGGTGACCTCTCAGGTGCAGCTCTCACCTCACTGGCCACTCTCCTGGACAAACCTGACTCCTGTCCCATGTGCCCCTGCAGAGCCCGCTGAGCCCCCAGGAACCCCTCCTGCCTCTCACAGCCATCTAGATGCAGCTCCTCTGCCCACTGTTGTCTACTCTAAAGGTAACACCCAAAGGTAGGGAAAGGGTAGGGGCACTTGGGCTTAGAGACCGCCCCCTGGCACTGATGATCCCCACTGCAGGACTTCAGAGAGGCT... |
Task1_train_7936 | This sequence change occurs on Chromosome 3, altering ALG3 (ALG3 alpha-1,3- mannosyltransferase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; ALG3-congenital disorder of glycosylation | AGCGGCCAAGGCTGATTGCTGGCTGCGGGCCCAGCACTTGCCTGACGGCCTTGACCTGGCCGCCCTCAAGGCCGCAGCCCGAGGGCTCTTCCTGCTACTGCGCCACTGGGACCAAAACCTGCAGCTACACCTGCTGTGCTACAGCCCAGCGAACGTGTGAAGGCTGCCCCCTGCTGCTTGGGCTGGCGCCCCACCCAACACACTCAAGTCACTGCCGCCCAGGGCTGGCCTCTTGGTGCTGGGAAAGTGTAGGCTGGTGCCAGCCTGTCCCCCACTGCTTCTTACTCCCTCCCTAGAGCCCTCTTGCCCCCACAAAAAGT... | AGCGGCCAAGGCTGATTGCTGGCTGCGGGCCCAGCACTTGCCTGACGGCCTTGACCTGGCCGCCCTCAAGGCCGCAGCCCGAGGGCTCTTCCTGCTACTGCGCCACTGGGACCAAAACCTGCAGCTACACCTGCTGTGCTACAGCCCAGCGAACGTGTGAAGGCTGCCCCCTGCTGCTTGGGCTGGCGCCCCACCCAACACACTCAAGTCACTGCCGCCCAGGGCTGGCCTCTTGGTGCTGGGAAAGTGTAGGCTGGTGCCAGCCTGTCCCCCACTGCTTCTTACTCCCTCCCTAGAGCCCTCTTGCCCCCACAAAAAGT... |
Task1_train_7937 | A variant affecting Chromosome 3, within the gene ALG3 (ALG3 alpha-1,3- mannosyltransferase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; ALG3-congenital disorder of glycosylation | GCCTTGACCTGGCCGCCCTCAAGGCCGCAGCCCGAGGGCTCTTCCTGCTACTGCGCCACTGGGACCAAAACCTGCAGCTACACCTGCTGTGCTACAGCCCAGCGAACGTGTGAAGGCTGCCCCCTGCTGCTTGGGCTGGCGCCCCACCCAACACACTCAAGTCACTGCCGCCCAGGGCTGGCCTCTTGGTGCTGGGAAAGTGTAGGCTGGTGCCAGCCTGTCCCCCACTGCTTCTTACTCCCTCCCTAGAGCCCTCTTGCCCCCACAAAAAGTGCCTGCCTGTGCTCTCTCCCTCTCCTCCCACCCCACTCACACTCCCC... | GCCTTGACCTGGCCGCCCTCAAGGCCGCAGCCCGAGGGCTCTTCCTGCTACTGCGCCACTGGGACCAAAACCTGCAGCTACACCTGCTGTGCTACAGCCCAGCGAACGTGTGAAGGCTGCCCCCTGCTGCTTGGGCTGGCGCCCCACCCAACACACTCAAGTCACTGCCGCCCAGGGCTGGCCTCTTGGTGCTGGGAAAGTGTAGGCTGGTGCCAGCCTGTCCCCCACTGCTTCTTACTCCCTCCCTAGAGCCCTCTTGCCCCCACAAAAAGTGCCTGCCTGTGCTCTCTCCCTCTCCTCCCACCCCACTCACACTCCCC... |
Task1_train_7938 | This alteration in ALG3 (ALG3 alpha-1,3- mannosyltransferase) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not specified | GATGTGGAAGGGTATGTGTTCCAGGAGAGCTCGATGAGCCCCAGCACCAACAACCTGGAGATGAGAAACAGGTTCCACGTTTCATCCAGTTGCAAGGCCTGCAGACCTGCAGCTCCTCATGCCCTAGACATAAACCCCCAACAGGAACTCCCTATCCCTTCCCACTCCCCCAGGTTGTCCCAGCTGGTACCTGAGCAGGTGTGTGAGCCAGCGTGCAGGCATGGCCCACAGGAGGTAGGGCAGTGTGTGGAAATACCAGACGTAGAACTGGTAGTGGAGGGAGCGGCTGAAGCAGATGCCAATGAAGTTGGAGGTGAAGA... | GATGTGGAAGGGTATGTGTTCCAGGAGAGCTCGATGAGCCCCAGCACCAACAACCTGGAGATGAGAAACAGGTTCCACGTTTCATCCAGTTGCAAGGCCTGCAGACCTGCAGCTCCTCATGCCCTAGACATAAACCCCCAACAGGAACTCCCTATCCCTTCCCACTCCCCCAGGTTGTCCCAGCTGGTACCTGAGCAGGTGTGTGAGCCAGCGTGCAGGCATGGCCCACAGGAGGTAGGGCAGTGTGTGGAAATACCAGACGTAGAACTGGTAGTGGAGGGAGCGGCTGAAGCAGATGCCAATGAAGTTGGAGGTGAAGA... |
Task1_train_7939 | Gene ALG3 (ALG3 alpha-1,3- mannosyltransferase) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; ALG3-congenital disorder of glycosylation | GGTCTCTTGTGAGCTTTCAATATTAGAACATATGTAAATCTCTTATGATAGTACCAGGGAGAAGTACTCATAAGAGTAGCTCGTATTTAGAATTAAGAATCAAATATCCTTCAATATGTGAAGTGCTCAGCACAGTGGTGCAGAATAGGACTTCTATGATTGGGGTCCCCTTTCCTCGCCCAGGTCACCAGCTGTCAAGGGATACCTGACCAGGACTCTGTCAGCACCTAGAGAGGGCAAGACTTACCTTCCCACAATTTAAAGGATATGGTTGGGTGTAAGGGGCTGGGGTGGAACCTTCCTTTTGGAGGGATCCCTCA... | GGTCTCTTGTGAGCTTTCAATATTAGAACATATGTAAATCTCTTATGATAGTACCAGGGAGAAGTACTCATAAGAGTAGCTCGTATTTAGAATTAAGAATCAAATATCCTTCAATATGTGAAGTGCTCAGCACAGTGGTGCAGAATAGGACTTCTATGATTGGGGTCCCCTTTCCTCGCCCAGGTCACCAGCTGTCAAGGGATACCTGACCAGGACTCTGTCAGCACCTAGAGAGGGCAAGACTTACCTTCCCACAATTTAAAGGATATGGTTGGGTGTAAGGGGCTGGGGTGGAACCTTCCTTTTGGAGGGATCCCTCA... |
Task1_train_7940 | A mutation in ALG3 (ALG3 alpha-1,3- mannosyltransferase), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; ALG3-congenital disorder of glycosylation | CCTAGAGAGGGCAAGACTTACCTTCCCACAATTTAAAGGATATGGTTGGGTGTAAGGGGCTGGGGTGGAACCTTCCTTTTGGAGGGATCCCTCAGCAGCGACAAGATACTTTCCCCTGTCCTGGAGAAAAGCCATTCAGACAGTTATCAAGCCCCTTTTGTGAGTCAAACTCTAGACTCACCCCATGAGCTTAACTGACACTTCCCCCAAGCAGCCCCTAAGGCTTAGGCCCTTCACTCCTTCCCCCAACTCTGCCCATGGCACTACTGCCTTTTCTCACCTGTGCCACCTGCAGAGGGCAAACAGCAGGAGCAGGGTGA... | CCTAGAGAGGGCAAGACTTACCTTCCCACAATTTAAAGGATATGGTTGGGTGTAAGGGGCTGGGGTGGAACCTTCCTTTTGGAGGGATCCCTCAGCAGCGACAAGATACTTTCCCCTGTCCTGGAGAAAAGCCATTCAGACAGTTATCAAGCCCCTTTTGTGAGTCAAACTCTAGACTCACCCCATGAGCTTAACTGACACTTCCCCCAAGCAGCCCCTAAGGCTTAGGCCCTTCACTCCTTCCCCCAACTCTGCCCATGGCACTACTGCCTTTTCTCACCTGTGCCACCTGCAGAGGGCAAACAGCAGGAGCAGGGTGA... |
Task1_train_7941 | A variant found in Chromosome 3 affects ALG3 (ALG3 alpha-1,3- mannosyltransferase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; ALG3-congenital disorder of glycosylation | AGAGAGGGCAAGACTTACCTTCCCACAATTTAAAGGATATGGTTGGGTGTAAGGGGCTGGGGTGGAACCTTCCTTTTGGAGGGATCCCTCAGCAGCGACAAGATACTTTCCCCTGTCCTGGAGAAAAGCCATTCAGACAGTTATCAAGCCCCTTTTGTGAGTCAAACTCTAGACTCACCCCATGAGCTTAACTGACACTTCCCCCAAGCAGCCCCTAAGGCTTAGGCCCTTCACTCCTTCCCCCAACTCTGCCCATGGCACTACTGCCTTTTCTCACCTGTGCCACCTGCAGAGGGCAAACAGCAGGAGCAGGGTGAGGT... | AGAGAGGGCAAGACTTACCTTCCCACAATTTAAAGGATATGGTTGGGTGTAAGGGGCTGGGGTGGAACCTTCCTTTTGGAGGGATCCCTCAGCAGCGACAAGATACTTTCCCCTGTCCTGGAGAAAAGCCATTCAGACAGTTATCAAGCCCCTTTTGTGAGTCAAACTCTAGACTCACCCCATGAGCTTAACTGACACTTCCCCCAAGCAGCCCCTAAGGCTTAGGCCCTTCACTCCTTCCCCCAACTCTGCCCATGGCACTACTGCCTTTTCTCACCTGTGCCACCTGCAGAGGGCAAACAGCAGGAGCAGGGTGAGGT... |
Task1_train_7942 | An alteration has been detected in ALG3 (ALG3 alpha-1,3- mannosyltransferase) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not specified | AGAGAGGGCAAGACTTACCTTCCCACAATTTAAAGGATATGGTTGGGTGTAAGGGGCTGGGGTGGAACCTTCCTTTTGGAGGGATCCCTCAGCAGCGACAAGATACTTTCCCCTGTCCTGGAGAAAAGCCATTCAGACAGTTATCAAGCCCCTTTTGTGAGTCAAACTCTAGACTCACCCCATGAGCTTAACTGACACTTCCCCCAAGCAGCCCCTAAGGCTTAGGCCCTTCACTCCTTCCCCCAACTCTGCCCATGGCACTACTGCCTTTTCTCACCTGTGCCACCTGCAGAGGGCAAACAGCAGGAGCAGGGTGAGGT... | AGAGAGGGCAAGACTTACCTTCCCACAATTTAAAGGATATGGTTGGGTGTAAGGGGCTGGGGTGGAACCTTCCTTTTGGAGGGATCCCTCAGCAGCGACAAGATACTTTCCCCTGTCCTGGAGAAAAGCCATTCAGACAGTTATCAAGCCCCTTTTGTGAGTCAAACTCTAGACTCACCCCATGAGCTTAACTGACACTTCCCCCAAGCAGCCCCTAAGGCTTAGGCCCTTCACTCCTTCCCCCAACTCTGCCCATGGCACTACTGCCTTTTCTCACCTGTGCCACCTGCAGAGGGCAAACAGCAGGAGCAGGGTGAGGT... |
Task1_train_7943 | This sequence change occurs on Chromosome 3, altering ALG3 (ALG3 alpha-1,3- mannosyltransferase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; ALG3-congenital disorder of glycosylation | GCCAGGCTGGTTTGTTTGTTTGTTTTTCTTTTGAGACAGGGTCTCGCTCAGCCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCACCATCTCCCCGGTTCGAGCCATTTTCCCATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACTTGCCATCATGCCCAGCTAATTTTTCTATTTTAGTAGAGACAGGGTGTCAACATATTGGCCAGGCTGGTGTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGGCTCCCAAAGTGCTAGAATTACAGGCATAAGCCACCGTGCCCAGCCAGGCTGG... | GCCAGGCTGGTTTGTTTGTTTGTTTTTCTTTTGAGACAGGGTCTCGCTCAGCCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCACCATCTCCCCGGTTCGAGCCATTTTCCCATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACTTGCCATCATGCCCAGCTAATTTTTCTATTTTAGTAGAGACAGGGTGTCAACATATTGGCCAGGCTGGTGTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGGCTCCCAAAGTGCTAGAATTACAGGCATAAGCCACCGTGCCCAGCCAGGCTGG... |
Task1_train_7944 | A variant has been detected on Chromosome 3 in CLCN2 (chloride voltage-gated channel 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Familial hyperaldosteronism type II | TTGGGCTCCCCGGCCCGGCTGGCCTCCCAGCTGCTGGGCGATGAGCTGCTTCTCGCCAAACTGCCCCCCAGCCGGGAAAGTGCCTTCCGCAGCCTGGGCCCACTGGAGGCCCAGGACTCACTCTACAACTCGCCCCTCACAGAGTCCTGCCTTTCCCCCGCGGAGGAGGAGCCAGCCCCCTGCAAGGACTGCCAGCCACTCTGCCCACCACTAACGGGCAGCTGGGAACGGCAGCGGCAAGCCTCTGACCTGGCCTCTTCTGGGGTGGTGTCCTTAGATGAGGATGAGGCAGAGCCAGAGGAACAGTGACCCACATCATG... | TTGGGCTCCCCGGCCCGGCTGGCCTCCCAGCTGCTGGGCGATGAGCTGCTTCTCGCCAAACTGCCCCCCAGCCGGGAAAGTGCCTTCCGCAGCCTGGGCCCACTGGAGGCCCAGGACTCACTCTACAACTCGCCCCTCACAGAGTCCTGCCTTTCCCCCGCGGAGGAGGAGCCAGCCCCCTGCAAGGACTGCCAGCCACTCTGCCCACCACTAACGGGCAGCTGGGAACGGCAGCGGCAAGCCTCTGACCTGGCCTCTTCTGGGGTGGTGTCCTTAGATGAGGATGAGGCAGAGCCAGAGGAACAGTGACCCACATCATG... |
Task1_train_7945 | Gene CLCN2 (chloride voltage-gated channel 2) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Leukoencephalopathy with mild cerebellar ataxia and white matter edema | TTAGAGCCAAACCAGAAAGATGAGGAGTTGAGGTTATAGGGAGAGGGGAGGTGAGGGGAAGTGGTGGAGCCCAGGGGAAAGGGCACGCCACAGGACCTGAGCTGACAGCAGGGAGGGCCGAAGGGCAGGGAGAATAGAGGCAGGCACTGCAGGGTTAATGACGTGGTCTCAGCATTGGAGAGGGAGCTGGGGAAAAAGCAAGCTAGGAGGACAGGCTCCAGCCACTCACCTCCGAAGCAGCCTCAGGGGGTGGACTGCCACAGAAGAGGCTCCGGAGGGCGATGCCTGCCGACTCTGCGCTCCCTGTGTTCCCAAACATA... | TTAGAGCCAAACCAGAAAGATGAGGAGTTGAGGTTATAGGGAGAGGGGAGGTGAGGGGAAGTGGTGGAGCCCAGGGGAAAGGGCACGCCACAGGACCTGAGCTGACAGCAGGGAGGGCCGAAGGGCAGGGAGAATAGAGGCAGGCACTGCAGGGTTAATGACGTGGTCTCAGCATTGGAGAGGGAGCTGGGGAAAAAGCAAGCTAGGAGGACAGGCTCCAGCCACTCACCTCCGAAGCAGCCTCAGGGGGTGGACTGCCACAGAAGAGGCTCCGGAGGGCGATGCCTGCCGACTCTGCGCTCCCTGTGTTCCCAAACATA... |
Task1_train_7946 | Given this variant in gene CLCN2 (chloride voltage-gated channel 2) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Epilepsy, idiopathic generalized, susceptibility to, 11 | GGGTAGCAGCAGCAGAAAGTCCATCCTCCAAGCCCTCCCTTGGGGCCCTCCGAGTTGTTATTCCACCCTCCACCCTCAGAAGCCCATCAGGGCATATTGTGTGATGGGGTGGAGAAGTTTCTGCCTCTCTTTGTCTCTCTGCAGTGACTTAGAGTGAAGGTCAATGTTGGGGGAAGCTGGGGTCACTTGTAAAGTTGACCAGAGGTGCGTAGGGAGCAGGTTCAGCTGGCTGCCCTCTCTCTGAAGGATGTCAGTCCCAAGGGAAGTCATGTCTCGCCCTCCCCACTCCCAATCCTCAGGGTCACACTGAGAGAGCTGTG... | GGGTAGCAGCAGCAGAAAGTCCATCCTCCAAGCCCTCCCTTGGGGCCCTCCGAGTTGTTATTCCACCCTCCACCCTCAGAAGCCCATCAGGGCATATTGTGTGATGGGGTGGAGAAGTTTCTGCCTCTCTTTGTCTCTCTGCAGTGACTTAGAGTGAAGGTCAATGTTGGGGGAAGCTGGGGTCACTTGTAAAGTTGACCAGAGGTGCGTAGGGAGCAGGTTCAGCTGGCTGCCCTCTCTCTGAAGGATGTCAGTCCCAAGGGAAGTCATGTCTCGCCCTCCCCACTCCCAATCCTCAGGGTCACACTGAGAGAGCTGTG... |
Task1_train_7947 | A variant on Chromosome 3 in gene CLCN2 (chloride voltage-gated channel 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Leukoencephalopathy with mild cerebellar ataxia and white matter edema | GGGTAGCAGCAGCAGAAAGTCCATCCTCCAAGCCCTCCCTTGGGGCCCTCCGAGTTGTTATTCCACCCTCCACCCTCAGAAGCCCATCAGGGCATATTGTGTGATGGGGTGGAGAAGTTTCTGCCTCTCTTTGTCTCTCTGCAGTGACTTAGAGTGAAGGTCAATGTTGGGGGAAGCTGGGGTCACTTGTAAAGTTGACCAGAGGTGCGTAGGGAGCAGGTTCAGCTGGCTGCCCTCTCTCTGAAGGATGTCAGTCCCAAGGGAAGTCATGTCTCGCCCTCCCCACTCCCAATCCTCAGGGTCACACTGAGAGAGCTGTG... | GGGTAGCAGCAGCAGAAAGTCCATCCTCCAAGCCCTCCCTTGGGGCCCTCCGAGTTGTTATTCCACCCTCCACCCTCAGAAGCCCATCAGGGCATATTGTGTGATGGGGTGGAGAAGTTTCTGCCTCTCTTTGTCTCTCTGCAGTGACTTAGAGTGAAGGTCAATGTTGGGGGAAGCTGGGGTCACTTGTAAAGTTGACCAGAGGTGCGTAGGGAGCAGGTTCAGCTGGCTGCCCTCTCTCTGAAGGATGTCAGTCCCAAGGGAAGTCATGTCTCGCCCTCCCCACTCCCAATCCTCAGGGTCACACTGAGAGAGCTGTG... |
Task1_train_7948 | A variant has been detected on Chromosome 3 in CLCN2 (chloride voltage-gated channel 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Familial hyperaldosteronism type II | GGGTAGCAGCAGCAGAAAGTCCATCCTCCAAGCCCTCCCTTGGGGCCCTCCGAGTTGTTATTCCACCCTCCACCCTCAGAAGCCCATCAGGGCATATTGTGTGATGGGGTGGAGAAGTTTCTGCCTCTCTTTGTCTCTCTGCAGTGACTTAGAGTGAAGGTCAATGTTGGGGGAAGCTGGGGTCACTTGTAAAGTTGACCAGAGGTGCGTAGGGAGCAGGTTCAGCTGGCTGCCCTCTCTCTGAAGGATGTCAGTCCCAAGGGAAGTCATGTCTCGCCCTCCCCACTCCCAATCCTCAGGGTCACACTGAGAGAGCTGTG... | GGGTAGCAGCAGCAGAAAGTCCATCCTCCAAGCCCTCCCTTGGGGCCCTCCGAGTTGTTATTCCACCCTCCACCCTCAGAAGCCCATCAGGGCATATTGTGTGATGGGGTGGAGAAGTTTCTGCCTCTCTTTGTCTCTCTGCAGTGACTTAGAGTGAAGGTCAATGTTGGGGGAAGCTGGGGTCACTTGTAAAGTTGACCAGAGGTGCGTAGGGAGCAGGTTCAGCTGGCTGCCCTCTCTCTGAAGGATGTCAGTCCCAAGGGAAGTCATGTCTCGCCCTCCCCACTCCCAATCCTCAGGGTCACACTGAGAGAGCTGTG... |
Task1_train_7949 | The gene CLCN2 (chloride voltage-gated channel 2) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Familial hyperaldosteronism type II | GCTCCACCGAAGCCACTAGCAATACTGGAAAGGGAAGAGGCACCTGAGTGAAAAGGAGCCTTCTAGAAACCCCCCTCCTCTCTGATACCCCCAGCCCCCTCAGCTCCTCACCCAATGACAGCAAAGGCTGGCAGCTCCTGCAGGTCAAAGGGGAAGTCGAGCCGGAATCGGGTTTTGAAGAGGGCTGTAATAGTCTCTAAAGGGAAGAACAGCAGAGGGAGGCAGGCCTAGCCTCGTGGGCCCCCTACCTGGCACCATCTCGGGCTGCCCTCATCCCCTGGGTGCCCCCACCTTCATCCCGGTTCCAGACTGCCAAGACC... | GCTCCACCGAAGCCACTAGCAATACTGGAAAGGGAAGAGGCACCTGAGTGAAAAGGAGCCTTCTAGAAACCCCCCTCCTCTCTGATACCCCCAGCCCCCTCAGCTCCTCACCCAATGACAGCAAAGGCTGGCAGCTCCTGCAGGTCAAAGGGGAAGTCGAGCCGGAATCGGGTTTTGAAGAGGGCTGTAATAGTCTCTAAAGGGAAGAACAGCAGAGGGAGGCAGGCCTAGCCTCGTGGGCCCCCTACCTGGCACCATCTCGGGCTGCCCTCATCCCCTGGGTGCCCCCACCTTCATCCCGGTTCCAGACTGCCAAGACC... |
Task1_train_7950 | A variant was discovered in gene CLCN2 (chloride voltage-gated channel 2), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Familial hyperaldosteronism type II | GCCACTAGCAATACTGGAAAGGGAAGAGGCACCTGAGTGAAAAGGAGCCTTCTAGAAACCCCCCTCCTCTCTGATACCCCCAGCCCCCTCAGCTCCTCACCCAATGACAGCAAAGGCTGGCAGCTCCTGCAGGTCAAAGGGGAAGTCGAGCCGGAATCGGGTTTTGAAGAGGGCTGTAATAGTCTCTAAAGGGAAGAACAGCAGAGGGAGGCAGGCCTAGCCTCGTGGGCCCCCTACCTGGCACCATCTCGGGCTGCCCTCATCCCCTGGGTGCCCCCACCTTCATCCCGGTTCCAGACTGCCAAGACCCGGAAGATGAA... | GCCACTAGCAATACTGGAAAGGGAAGAGGCACCTGAGTGAAAAGGAGCCTTCTAGAAACCCCCCTCCTCTCTGATACCCCCAGCCCCCTCAGCTCCTCACCCAATGACAGCAAAGGCTGGCAGCTCCTGCAGGTCAAAGGGGAAGTCGAGCCGGAATCGGGTTTTGAAGAGGGCTGTAATAGTCTCTAAAGGGAAGAACAGCAGAGGGAGGCAGGCCTAGCCTCGTGGGCCCCCTACCTGGCACCATCTCGGGCTGCCCTCATCCCCTGGGTGCCCCCACCTTCATCCCGGTTCCAGACTGCCAAGACCCGGAAGATGAA... |
Task1_train_7951 | A variant affecting Chromosome 3, within the gene THPO (thrombopoietin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Thrombocytopenia | GGACAGTGTACCACACTGGAGAGAGTATGGACCCTAGAGTGAGGTCAGACTAGGGTGTTTCTTCTCCTGCCCACAGGGCGTGTAACCACTGATAACTCACCTGGCTTCTCTGAGCCTCAGTTTCCTCATCTCTAAAACAGAAAAGATAATACCTACCTTACAGAGTTGTGTGAATGTTACAAAAGGTAAAGTACACGAGGTTCCTAGCACATTGCCTTTCATTCTGCTGCTTTGGAATGCCTTTGGTGACCCTGGGGTATTTGTGGCAGTGTTTGGGTTTCTGGGTTCCTGGCTCCTCTACCTCCGTGGTAGCCTTTCCT... | GGACAGTGTACCACACTGGAGAGAGTATGGACCCTAGAGTGAGGTCAGACTAGGGTGTTTCTTCTCCTGCCCACAGGGCGTGTAACCACTGATAACTCACCTGGCTTCTCTGAGCCTCAGTTTCCTCATCTCTAAAACAGAAAAGATAATACCTACCTTACAGAGTTGTGTGAATGTTACAAAAGGTAAAGTACACGAGGTTCCTAGCACATTGCCTTTCATTCTGCTGCTTTGGAATGCCTTTGGTGACCCTGGGGTATTTGTGGCAGTGTTTGGGTTTCTGGGTTCCTGGCTCCTCTACCTCCGTGGTAGCCTTTCCT... |
Task1_train_7952 | This sequence variant lies in THPO (thrombopoietin) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Amegakaryocytic thrombocytopenia, congenital, 2 | GGACAGTGTACCACACTGGAGAGAGTATGGACCCTAGAGTGAGGTCAGACTAGGGTGTTTCTTCTCCTGCCCACAGGGCGTGTAACCACTGATAACTCACCTGGCTTCTCTGAGCCTCAGTTTCCTCATCTCTAAAACAGAAAAGATAATACCTACCTTACAGAGTTGTGTGAATGTTACAAAAGGTAAAGTACACGAGGTTCCTAGCACATTGCCTTTCATTCTGCTGCTTTGGAATGCCTTTGGTGACCCTGGGGTATTTGTGGCAGTGTTTGGGTTTCTGGGTTCCTGGCTCCTCTACCTCCGTGGTAGCCTTTCCT... | GGACAGTGTACCACACTGGAGAGAGTATGGACCCTAGAGTGAGGTCAGACTAGGGTGTTTCTTCTCCTGCCCACAGGGCGTGTAACCACTGATAACTCACCTGGCTTCTCTGAGCCTCAGTTTCCTCATCTCTAAAACAGAAAAGATAATACCTACCTTACAGAGTTGTGTGAATGTTACAAAAGGTAAAGTACACGAGGTTCCTAGCACATTGCCTTTCATTCTGCTGCTTTGGAATGCCTTTGGTGACCCTGGGGTATTTGTGGCAGTGTTTGGGTTTCTGGGTTCCTGGCTCCTCTACCTCCGTGGTAGCCTTTCCT... |
Task1_train_7953 | Chromosome 3 houses a mutation in gene THPO (thrombopoietin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | TGTTTTTGTGCAACACAAACCTTTTCCTGAGCACCAAGGCAGCACTTATTTGCAAAGCCCCATAAGCCTGACTCCTTTTTAGAGATCCCCTAGCAGAGTTTATGGTGGTCACACAGAGCTGCTTTTTAGATGCATTTGCGGGAACTGGGAAATGAGCCTTCAACTTGTACTTGACTTGTACTTGTTCTCCTGCTGTGTGAGCTCAAGGAGCCTGACTCATGCCACTTCCTGCACTTCCTCCTGACCTCCACAGGAGGGAGGCAGGCGTCCATGCCTGGCAAAGCCTCCTGCTGAGCTGCCAAAGCTCTAGCTGTTTGCTC... | TGTTTTTGTGCAACACAAACCTTTTCCTGAGCACCAAGGCAGCACTTATTTGCAAAGCCCCATAAGCCTGACTCCTTTTTAGAGATCCCCTAGCAGAGTTTATGGTGGTCACACAGAGCTGCTTTTTAGATGCATTTGCGGGAACTGGGAAATGAGCCTTCAACTTGTACTTGACTTGTACTTGTTCTCCTGCTGTGTGAGCTCAAGGAGCCTGACTCATGCCACTTCCTGCACTTCCTCCTGACCTCCACAGGAGGGAGGCAGGCGTCCATGCCTGGCAAAGCCTCCTGCTGAGCTGCCAAAGCTCTAGCTGTTTGCTC... |
Task1_train_7954 | The gene THPO (thrombopoietin) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Inborn genetic diseases | CCTCTTGGTTCTAGTGCTGCAAATTTACTCTTTCTGCTGCAAAACCTTAGGATCATTTGATTTTTAAACTGAATGAAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTGAATCCGGGAGGCTGAGGTTGCAGTGAGTTGAGATCATGCCA... | CCTCTTGGTTCTAGTGCTGCAAATTTACTCTTTCTGCTGCAAAACCTTAGGATCATTTGATTTTTAAACTGAATGAAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTGAATCCGGGAGGCTGAGGTTGCAGTGAGTTGAGATCATGCCA... |
Task1_train_7955 | Here is a genetic alteration in EHHADH (enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Fanconi renotubular syndrome 3 | CACTTCATAATTTCCAGCTGATTTAAACTTCACAACTTTATGAGGTAGGCCCTAACATTTCTCCTGCAAAGAGGATGGGGGTGGCACAGGTGGTTGCATGGGTGGGCAAGGAGAGCAGGTTAAATTCCAGAAATATTAAAAGCAATTGTCAGAGGCTGGGCACGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGC... | CACTTCATAATTTCCAGCTGATTTAAACTTCACAACTTTATGAGGTAGGCCCTAACATTTCTCCTGCAAAGAGGATGGGGGTGGCACAGGTGGTTGCATGGGTGGGCAAGGAGAGCAGGTTAAATTCCAGAAATATTAAAAGCAATTGTCAGAGGCTGGGCACGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGC... |
Task1_train_7956 | This variant impacts the gene LIPH (lipase H) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Woolly hair, autosomal recessive 2, with or without hypotrichosis | AAAATAAAATTTAAATTAAAAATAAAATTAAAAACTTGTGGCCCTAAAAGTTTACCTCCTAAATGTAGTTTTAATCATTTACCTCTCCCCTTTTTCCATCCACTTCTACCTTTTCAGTTTCCATAGATTTAAAATAGCCATCTAGGTATGAGGATGGATTCTGGGAAAGGAGAAATGGGAGAGGCTTTGAGACTCTGAAAGAGAGAGCCGCTGTGGAAAGCTACTAAGCCCTAGGCAGGAGATTCCAGCAAAGGAGTCTTTGTTTGGGATCTGACCTACTGCATTTCTGAAGGTTTTCATTCAGTGTTGGCCCGAAAGCT... | AAAATAAAATTTAAATTAAAAATAAAATTAAAAACTTGTGGCCCTAAAAGTTTACCTCCTAAATGTAGTTTTAATCATTTACCTCTCCCCTTTTTCCATCCACTTCTACCTTTTCAGTTTCCATAGATTTAAAATAGCCATCTAGGTATGAGGATGGATTCTGGGAAAGGAGAAATGGGAGAGGCTTTGAGACTCTGAAAGAGAGAGCCGCTGTGGAAAGCTACTAAGCCCTAGGCAGGAGATTCCAGCAAAGGAGTCTTTGTTTGGGATCTGACCTACTGCATTTCTGAAGGTTTTCATTCAGTGTTGGCCCGAAAGCT... |
Task1_train_7957 | A genetic alteration is present in ETV5, ETV5-AS1 (ETS variant transcription factor 5| ETV5 antisense RNA 1) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Myoepithelial tumor | TGAGAGCTTTGAATTTTAGACCCATCAGTCTCAAAGGCAGAGTATAACAAGAAGTAAGTCCAAAATGCACAGGCAGACTTCAAGGAGGAATCACCCAAGAAAAGAAATACCTGCATTCTGGTTCCCTCCTCTCTTCCTTTCAACACCCACGGGCAAATAACTCATCAATCCCAGGAATCCAAAACTCCTTCCTTCTCAGGGGGCTGGGTGGACTGGAGACAGGCTTATTTCACAGCTGAGACTGGGGCTACCCATCTCCCAATTCTCCAGGAGAACTAGGATATTTGTCTCCCAACTCAGTTAACTGTTAATACAGTATG... | TGAGAGCTTTGAATTTTAGACCCATCAGTCTCAAAGGCAGAGTATAACAAGAAGTAAGTCCAAAATGCACAGGCAGACTTCAAGGAGGAATCACCCAAGAAAAGAAATACCTGCATTCTGGTTCCCTCCTCTCTTCCTTTCAACACCCACGGGCAAATAACTCATCAATCCCAGGAATCCAAAACTCCTTCCTTCTCAGGGGGCTGGGTGGACTGGAGACAGGCTTATTTCACAGCTGAGACTGGGGCTACCCATCTCCCAATTCTCCAGGAGAACTAGGATATTTGTCTCCCAACTCAGTTAACTGTTAATACAGTATG... |
Task1_train_7958 | This sequence change occurs on Chromosome 3, altering CRYGS (crystallin gamma S). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cataract 20 multiple types | GCTGATGGCTGCAGTCAGCTCACAGGCCAGAGCTCTTTGCAGCTCAGCAAATGGCCTCCCATTCCTTCTCCATTTGTCAGGTTTCCCTCCCTTACTTACACCCACTTTTTTCAGTCTCTCACTTGAAACAGACAAAATGACAAAAGGGAGGGGAAGATAACAACATGAATAAACATATTTTGGGGTGAGTATGCACTGTGCACTATAGAGTATACACAAGGGAAATTTAGCAATTCTAATTTGTCCTTTTGGGGAAGGCTCCTAGATGACAGGGGCTTTGCTATCTCATTTACAGATGGGTGCATTCTGCATATCCCCAG... | GCTGATGGCTGCAGTCAGCTCACAGGCCAGAGCTCTTTGCAGCTCAGCAAATGGCCTCCCATTCCTTCTCCATTTGTCAGGTTTCCCTCCCTTACTTACACCCACTTTTTTCAGTCTCTCACTTGAAACAGACAAAATGACAAAAGGGAGGGGAAGATAACAACATGAATAAACATATTTTGGGGTGAGTATGCACTGTGCACTATAGAGTATACACAAGGGAAATTTAGCAATTCTAATTTGTCCTTTTGGGGAAGGCTCCTAGATGACAGGGGCTTTGCTATCTCATTTACAGATGGGTGCATTCTGCATATCCCCAG... |
Task1_train_7959 | A variant was discovered in gene CRYGS (crystallin gamma S), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cataract 20 multiple types | CTGCAGTCAGCTCACAGGCCAGAGCTCTTTGCAGCTCAGCAAATGGCCTCCCATTCCTTCTCCATTTGTCAGGTTTCCCTCCCTTACTTACACCCACTTTTTTCAGTCTCTCACTTGAAACAGACAAAATGACAAAAGGGAGGGGAAGATAACAACATGAATAAACATATTTTGGGGTGAGTATGCACTGTGCACTATAGAGTATACACAAGGGAAATTTAGCAATTCTAATTTGTCCTTTTGGGGAAGGCTCCTAGATGACAGGGGCTTTGCTATCTCATTTACAGATGGGTGCATTCTGCATATCCCCAGGTTCACTT... | CTGCAGTCAGCTCACAGGCCAGAGCTCTTTGCAGCTCAGCAAATGGCCTCCCATTCCTTCTCCATTTGTCAGGTTTCCCTCCCTTACTTACACCCACTTTTTTCAGTCTCTCACTTGAAACAGACAAAATGACAAAAGGGAGGGGAAGATAACAACATGAATAAACATATTTTGGGGTGAGTATGCACTGTGCACTATAGAGTATACACAAGGGAAATTTAGCAATTCTAATTTGTCCTTTTGGGGAAGGCTCCTAGATGACAGGGGCTTTGCTATCTCATTTACAGATGGGTGCATTCTGCATATCCCCAGGTTCACTT... |
Task1_train_7960 | Given a variant located on Chromosome 3 and affecting CRYGS (crystallin gamma S), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Retinitis pigmentosa | ATTTGTCAGGTTTCCCTCCCTTACTTACACCCACTTTTTTCAGTCTCTCACTTGAAACAGACAAAATGACAAAAGGGAGGGGAAGATAACAACATGAATAAACATATTTTGGGGTGAGTATGCACTGTGCACTATAGAGTATACACAAGGGAAATTTAGCAATTCTAATTTGTCCTTTTGGGGAAGGCTCCTAGATGACAGGGGCTTTGCTATCTCATTTACAGATGGGTGCATTCTGCATATCCCCAGGTTCACTTGTATGTTCACTAAATACTCCTGGCCATACTGTTTCCTTCTTCATTCTTCTCTTCAAGATTAAA... | ATTTGTCAGGTTTCCCTCCCTTACTTACACCCACTTTTTTCAGTCTCTCACTTGAAACAGACAAAATGACAAAAGGGAGGGGAAGATAACAACATGAATAAACATATTTTGGGGTGAGTATGCACTGTGCACTATAGAGTATACACAAGGGAAATTTAGCAATTCTAATTTGTCCTTTTGGGGAAGGCTCCTAGATGACAGGGGCTTTGCTATCTCATTTACAGATGGGTGCATTCTGCATATCCCCAGGTTCACTTGTATGTTCACTAAATACTCCTGGCCATACTGTTTCCTTCTTCATTCTTCTCTTCAAGATTAAA... |
Task1_train_7961 | A genetic alteration is present in AHSG (alpha 2-HS glycoprotein) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Alopecia-intellectual disability syndrome 1 | AGACAGAGAATAACAGTGCAAATCCCCTCTCCCTGTGGATCACGGCAAGCCTTCTTTTAGGGTGTCACCTCATCCCTTTAAGAGCTGTCATCAAATCATCTCACCCACTGGAAGCACATGAAGTTAGGAGAAAGAGAGAGGCTATTTGCTAATGAAGCCAAGTCACGCCCACCCACTGGGAATGTGAAGTGCACATTTTCTAGACATATAACTCTGATACAAAAGCTTTCAAGTCCTTGAGCCAATAATGTACACTTCTAGGATTTTAGTCTAAAGAAGTCATCAGTGGCCAGGCATGATGGCTCATGCCTGTAATTCCA... | AGACAGAGAATAACAGTGCAAATCCCCTCTCCCTGTGGATCACGGCAAGCCTTCTTTTAGGGTGTCACCTCATCCCTTTAAGAGCTGTCATCAAATCATCTCACCCACTGGAAGCACATGAAGTTAGGAGAAAGAGAGAGGCTATTTGCTAATGAAGCCAAGTCACGCCCACCCACTGGGAATGTGAAGTGCACATTTTCTAGACATATAACTCTGATACAAAAGCTTTCAAGTCCTTGAGCCAATAATGTACACTTCTAGGATTTTAGTCTAAAGAAGTCATCAGTGGCCAGGCATGATGGCTCATGCCTGTAATTCCA... |
Task1_train_7962 | This gene mutation involves HRG, LOC126806897 (histidine rich glycoprotein| BRD4-independent group 4 enhancer GRCh37_chr3:186386725-186387924) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | TATAGAGAGACATGAAGCCTGCCTCTAAGCTCCCCAAATAACCTACTCTCCCTCTGATGGAAAAACTGAAATTAGGGAGGCCAGACAAGGAGTACTACAGAGGACAATTTACCCTTCTGAAAGTATCACAGAGGGAGGCACTGTGGGTTGCAGAGAACAGGTGTGCAGGAGTTTAGGATTCAACCAGTAATTCAGTGACCATTAGTCCCATGCCAGGCTCATCAACACATGTTAGGGCATAGGATGCATCAGCACAGAGCTGCCTCTGAGAGCTAGCATAGAGAGCGGGTGGATGGGGAGGGGTCCTGATGTGCCTGGGG... | TATAGAGAGACATGAAGCCTGCCTCTAAGCTCCCCAAATAACCTACTCTCCCTCTGATGGAAAAACTGAAATTAGGGAGGCCAGACAAGGAGTACTACAGAGGACAATTTACCCTTCTGAAAGTATCACAGAGGGAGGCACTGTGGGTTGCAGAGAACAGGTGTGCAGGAGTTTAGGATTCAACCAGTAATTCAGTGACCATTAGTCCCATGCCAGGCTCATCAACACATGTTAGGGCATAGGATGCATCAGCACAGAGCTGCCTCTGAGAGCTAGCATAGAGAGCGGGTGGATGGGGAGGGGTCCTGATGTGCCTGGGG... |
Task1_train_7963 | Here is a variant affecting KNG1 (kininogen 1) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Angioedema, hereditary, 6 | AAATGAACCATTACTGAAATGAATTGGGGAGCTATCTTTTTTAAATGGGGAGTAACTCTCACACTTCTGTGCTGATCTCTGTTTAATGGCTAGAAAGAAGAGTAACAATCCTCCTGATCACTTCTCACACATTGTCAGTGTCTCAGTGAAGCTTCTATAGACTCTCTCCTAGTGCACTGCAGTCCTGCTGTGGGGGAGCAACATTGGCTATGCCAGGTGTACCTGAGGCCAGATACAGCACTCCACTGCATTCTGCTGACATGCAAGGACCATGTGAAAAATGCATGGCTGGGCGCGGTGGCTCACGCCTGTTATCCCAG... | AAATGAACCATTACTGAAATGAATTGGGGAGCTATCTTTTTTAAATGGGGAGTAACTCTCACACTTCTGTGCTGATCTCTGTTTAATGGCTAGAAAGAAGAGTAACAATCCTCCTGATCACTTCTCACACATTGTCAGTGTCTCAGTGAAGCTTCTATAGACTCTCTCCTAGTGCACTGCAGTCCTGCTGTGGGGGAGCAACATTGGCTATGCCAGGTGTACCTGAGGCCAGATACAGCACTCCACTGCATTCTGCTGACATGCAAGGACCATGTGAAAAATGCATGGCTGGGCGCGGTGGCTCACGCCTGTTATCCCAG... |
Task1_train_7964 | A variant found in Chromosome 3 affects KNG1 (kininogen 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Angioedema, hereditary, 6 | GAAAAATTCAGACTCGCAAACCCCACTTCACAGCTACCGAATTTTAACCAGATCCCCAGGGGATTCATATGCATGAATCAAGTTTGAAAAGCATTCGTTGATGTCATCTTTCTTTTTTAAGTCTTAAAAGAACTCTGGGAGGTAGTAACACTTTCCCTATTGTCAAGGATGAGACACTAAAAATTAGAAAGACTCTGAGGTCCTGAGTGAATAATGACATTATCAAATGCTTCCTCTGTCCCAGGCACTATACTGAAGGTTTCACCCACATTTTCGAGTCCTCCTTATAACTCTGTGAGGCAGGTGCTGTTATTATTTCT... | GAAAAATTCAGACTCGCAAACCCCACTTCACAGCTACCGAATTTTAACCAGATCCCCAGGGGATTCATATGCATGAATCAAGTTTGAAAAGCATTCGTTGATGTCATCTTTCTTTTTTAAGTCTTAAAAGAACTCTGGGAGGTAGTAACACTTTCCCTATTGTCAAGGATGAGACACTAAAAATTAGAAAGACTCTGAGGTCCTGAGTGAATAATGACATTATCAAATGCTTCCTCTGTCCCAGGCACTATACTGAAGGTTTCACCCACATTTTCGAGTCCTCCTTATAACTCTGTGAGGCAGGTGCTGTTATTATTTCT... |
Task1_train_7965 | Given a variant located on Chromosome 3 and affecting ADIPOQ, ADIPOQ-AS1 (adiponectin, C1Q and collagen domain containing| ADIPOQ antisense RNA 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Adiponectin deficiency | AACCAGCCAAGGAGTGAGATGGAGAACAAGGAGGACTTCTTGAAACAGATGACATCCAAACTGGGTCCTGAAAGCTGAATAGAGATTAGACAGGGGAGGAGGGGCAGCTAAAGATGGCTCAGGCAAACAAAGGGCCAGGGGATATGTTCATGGGATGATGTGTCTCTCGTTGTCTGCTTAACACAAGGTGAGTCTCTCCCTCCCTCTCTCTCTCTTTTTCTCTGTGTGTGTTTGTGTGTGTGCATGTGTGCAAATGTAATATACCCAATAGTCAAACATGTGCCCCAGGAGAGGGGTAGAGGAAGAAAGAGAATGAGAGA... | AACCAGCCAAGGAGTGAGATGGAGAACAAGGAGGACTTCTTGAAACAGATGACATCCAAACTGGGTCCTGAAAGCTGAATAGAGATTAGACAGGGGAGGAGGGGCAGCTAAAGATGGCTCAGGCAAACAAAGGGCCAGGGGATATGTTCATGGGATGATGTGTCTCTCGTTGTCTGCTTAACACAAGGTGAGTCTCTCCCTCCCTCTCTCTCTCTTTTTCTCTGTGTGTGTTTGTGTGTGTGCATGTGTGCAAATGTAATATACCCAATAGTCAAACATGTGCCCCAGGAGAGGGGTAGAGGAAGAAAGAGAATGAGAGA... |
Task1_train_7966 | A genetic alteration is present in MASP1 (MBL associated serine protease 1) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; 3MC syndrome 1 | TCACATTGGGACTAGAGATGCCCTAGCCAGTCACCAGGCCCAGCGTGTGGGGGGTTGGGCCTTCAGGCTCAAGTCCTTTGAAGACAAGGACTTAAATGGCAGGCACTTAAATGAAGGAACAAGTAGCCTCTGAGAAGGAGACAGATCAATAACCAAATCCTTTCCTCATTACCTCTTGGATAATGTCCAGATACCAAAAGTTGTACTTTTTCTGCAACAAGGGAGATTTTGGTTTAATGAGGAGACCAATTTCTTTTCAAAAAAGTTAAAACAAATGAACACACTTCCCCAACAATAACAAAACCCATAAGCCAAGGCTG... | TCACATTGGGACTAGAGATGCCCTAGCCAGTCACCAGGCCCAGCGTGTGGGGGGTTGGGCCTTCAGGCTCAAGTCCTTTGAAGACAAGGACTTAAATGGCAGGCACTTAAATGAAGGAACAAGTAGCCTCTGAGAAGGAGACAGATCAATAACCAAATCCTTTCCTCATTACCTCTTGGATAATGTCCAGATACCAAAAGTTGTACTTTTTCTGCAACAAGGGAGATTTTGGTTTAATGAGGAGACCAATTTCTTTTCAAAAAAGTTAAAACAAATGAACACACTTCCCCAACAATAACAAAACCCATAAGCCAAGGCTG... |
Task1_train_7967 | Consider a variant on Chromosome 3 in gene MASP1 (MBL associated serine protease 1). Determine its clinical classification and disease relevance. | Pathogenic; 3MC syndrome 1 | TCAGGCTCAAGTCCTTTGAAGACAAGGACTTAAATGGCAGGCACTTAAATGAAGGAACAAGTAGCCTCTGAGAAGGAGACAGATCAATAACCAAATCCTTTCCTCATTACCTCTTGGATAATGTCCAGATACCAAAAGTTGTACTTTTTCTGCAACAAGGGAGATTTTGGTTTAATGAGGAGACCAATTTCTTTTCAAAAAAGTTAAAACAAATGAACACACTTCCCCAACAATAACAAAACCCATAAGCCAAGGCTGTTGGTTATCCACGAGGGTTTATTTCCACTTGAGACCCCTGATGGGAGCAACAATGCAGAGGC... | TCAGGCTCAAGTCCTTTGAAGACAAGGACTTAAATGGCAGGCACTTAAATGAAGGAACAAGTAGCCTCTGAGAAGGAGACAGATCAATAACCAAATCCTTTCCTCATTACCTCTTGGATAATGTCCAGATACCAAAAGTTGTACTTTTTCTGCAACAAGGGAGATTTTGGTTTAATGAGGAGACCAATTTCTTTTCAAAAAAGTTAAAACAAATGAACACACTTCCCCAACAATAACAAAACCCATAAGCCAAGGCTGTTGGTTATCCACGAGGGTTTATTTCCACTTGAGACCCCTGATGGGAGCAACAATGCAGAGGC... |
Task1_train_7968 | A genetic alteration is present in MASP1 (MBL associated serine protease 1) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; 3MC syndrome 1 | CCTCTTGGATAATGTCCAGATACCAAAAGTTGTACTTTTTCTGCAACAAGGGAGATTTTGGTTTAATGAGGAGACCAATTTCTTTTCAAAAAAGTTAAAACAAATGAACACACTTCCCCAACAATAACAAAACCCATAAGCCAAGGCTGTTGGTTATCCACGAGGGTTTATTTCCACTTGAGACCCCTGATGGGAGCAACAATGCAGAGGCCCTTTACAGAATGGTGAAGCATATGATATAAAAGATACAAAATATAACATCATTTACATGTGCCATTCATAGACAAAGGAGTGTGTTTGATGAGCCGGTTGAGAAAGTG... | CCTCTTGGATAATGTCCAGATACCAAAAGTTGTACTTTTTCTGCAACAAGGGAGATTTTGGTTTAATGAGGAGACCAATTTCTTTTCAAAAAAGTTAAAACAAATGAACACACTTCCCCAACAATAACAAAACCCATAAGCCAAGGCTGTTGGTTATCCACGAGGGTTTATTTCCACTTGAGACCCCTGATGGGAGCAACAATGCAGAGGCCCTTTACAGAATGGTGAAGCATATGATATAAAAGATACAAAATATAACATCATTTACATGTGCCATTCATAGACAAAGGAGTGTGTTTGATGAGCCGGTTGAGAAAGTG... |
Task1_train_7969 | This variant affects gene MASP1 (MBL associated serine protease 1) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; 3MC syndrome 1 | GGGAGAAGGAGAACAATCAGCCCTGTGAGGGCCAGAGAGGCTGCTAGCAGTCAGGGAAGCTCTGAGTGCTCCAGCTAGAAGGAACCTGCAGGGGACCTTATGCCAGCCTGTTGCTGACGGAGAACCAGAGACTCAGACAAAGAAAATGATTTTTCAAAGGTTATACAGCCAGTTGGGGGCAGAGCAGGGACTAGAACCCAGGACTCCTGGCTCTTTTCACTGCCTGCCATGGGTGAGCCTCTGATTCCTTTGACTCTGAAAAATGAAGGAGTGGGTCCCTCTGAACATCCTGCGGGGTGGATTCTCCGCCCAGCTCATGC... | GGGAGAAGGAGAACAATCAGCCCTGTGAGGGCCAGAGAGGCTGCTAGCAGTCAGGGAAGCTCTGAGTGCTCCAGCTAGAAGGAACCTGCAGGGGACCTTATGCCAGCCTGTTGCTGACGGAGAACCAGAGACTCAGACAAAGAAAATGATTTTTCAAAGGTTATACAGCCAGTTGGGGGCAGAGCAGGGACTAGAACCCAGGACTCCTGGCTCTTTTCACTGCCTGCCATGGGTGAGCCTCTGATTCCTTTGACTCTGAAAAATGAAGGAGTGGGTCCCTCTGAACATCCTGCGGGGTGGATTCTCCGCCCAGCTCATGC... |
Task1_train_7970 | A change on Chromosome 3 affects gene TP63 (tumor protein p63). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Premature ovarian failure 21 | TGCTATTGCAGGTAGCTTGGAAATCAGCATTCATAAATCTAATAGTATTATCTTCTACTGTATTACTAGACCAGAACACATATTTGAAATTTTAAGAAGATGATTGACTATCCTCATACAGTATTTTTCTAATTCTTTATAACAGGAACAGTAACACTTAAGAACTTAACTAATTTTATCCTGGGATAAAATTAGTCTACTGATTATCACAACAAATCACATATTAAGATGATCTGCCCGGATAATATTTAGACTTGGAGAACGCATCATCTGAGAAAGCTGATGTTTTCCTCCAAATATATAGGAATAAATGTTTGGAA... | TGCTATTGCAGGTAGCTTGGAAATCAGCATTCATAAATCTAATAGTATTATCTTCTACTGTATTACTAGACCAGAACACATATTTGAAATTTTAAGAAGATGATTGACTATCCTCATACAGTATTTTTCTAATTCTTTATAACAGGAACAGTAACACTTAAGAACTTAACTAATTTTATCCTGGGATAAAATTAGTCTACTGATTATCACAACAAATCACATATTAAGATGATCTGCCCGGATAATATTTAGACTTGGAGAACGCATCATCTGAGAAAGCTGATGTTTTCCTCCAAATATATAGGAATAAATGTTTGGAA... |
Task1_train_7971 | 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 | TGCTATTGCAGGTAGCTTGGAAATCAGCATTCATAAATCTAATAGTATTATCTTCTACTGTATTACTAGACCAGAACACATATTTGAAATTTTAAGAAGATGATTGACTATCCTCATACAGTATTTTTCTAATTCTTTATAACAGGAACAGTAACACTTAAGAACTTAACTAATTTTATCCTGGGATAAAATTAGTCTACTGATTATCACAACAAATCACATATTAAGATGATCTGCCCGGATAATATTTAGACTTGGAGAACGCATCATCTGAGAAAGCTGATGTTTTCCTCCAAATATATAGGAATAAATGTTTGGAA... | TGCTATTGCAGGTAGCTTGGAAATCAGCATTCATAAATCTAATAGTATTATCTTCTACTGTATTACTAGACCAGAACACATATTTGAAATTTTAAGAAGATGATTGACTATCCTCATACAGTATTTTTCTAATTCTTTATAACAGGAACAGTAACACTTAAGAACTTAACTAATTTTATCCTGGGATAAAATTAGTCTACTGATTATCACAACAAATCACATATTAAGATGATCTGCCCGGATAATATTTAGACTTGGAGAACGCATCATCTGAGAAAGCTGATGTTTTCCTCCAAATATATAGGAATAAATGTTTGGAA... |
Task1_train_7972 | This genomic variant is located on Chromosome 3, within the LOC111162621, TP63 (DeltaNp63 promoter of tumor protein p63| tumor protein p63) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | TTTGGTAGGCAGTTGTGCTAACAGCATTTCCTCTAGATCATTGATTCCCAAGCGTGACTCATCCAGAACCGCCTAGCAGGCTGTATAAAATCCAGTTGTTGGGGCTGTAACCCTGCAGAGTCTGATTCAGGAGGTCTGGGGCCACGTCCAGAAATCTGTTTTTAAAAAGCACCCTGGATGATTTTCAGGATCATCCAAGTTTTTGGGCCACAGGAATTATGCATACCTTTAAGGAAGTAACCATCTGCTTTCTACTGTTGACTCTTAAGCTGTCAGTAGGTGTAGAATTTAGACACATTGTACAAAAAATTATACTGTAT... | TTTGGTAGGCAGTTGTGCTAACAGCATTTCCTCTAGATCATTGATTCCCAAGCGTGACTCATCCAGAACCGCCTAGCAGGCTGTATAAAATCCAGTTGTTGGGGCTGTAACCCTGCAGAGTCTGATTCAGGAGGTCTGGGGCCACGTCCAGAAATCTGTTTTTAAAAAGCACCCTGGATGATTTTCAGGATCATCCAAGTTTTTGGGCCACAGGAATTATGCATACCTTTAAGGAAGTAACCATCTGCTTTCTACTGTTGACTCTTAAGCTGTCAGTAGGTGTAGAATTTAGACACATTGTACAAAAAATTATACTGTAT... |
Task1_train_7973 | Mutation context: Chromosome 3, Gene TP63 (tumor protein p63). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; ADULT syndrome | TGCTAACAGCATTTCCTCTAGATCATTGATTCCCAAGCGTGACTCATCCAGAACCGCCTAGCAGGCTGTATAAAATCCAGTTGTTGGGGCTGTAACCCTGCAGAGTCTGATTCAGGAGGTCTGGGGCCACGTCCAGAAATCTGTTTTTAAAAAGCACCCTGGATGATTTTCAGGATCATCCAAGTTTTTGGGCCACAGGAATTATGCATACCTTTAAGGAAGTAACCATCTGCTTTCTACTGTTGACTCTTAAGCTGTCAGTAGGTGTAGAATTTAGACACATTGTACAAAAAATTATACTGTATTTTGTAAGTAGGTTT... | TGCTAACAGCATTTCCTCTAGATCATTGATTCCCAAGCGTGACTCATCCAGAACCGCCTAGCAGGCTGTATAAAATCCAGTTGTTGGGGCTGTAACCCTGCAGAGTCTGATTCAGGAGGTCTGGGGCCACGTCCAGAAATCTGTTTTTAAAAAGCACCCTGGATGATTTTCAGGATCATCCAAGTTTTTGGGCCACAGGAATTATGCATACCTTTAAGGAAGTAACCATCTGCTTTCTACTGTTGACTCTTAAGCTGTCAGTAGGTGTAGAATTTAGACACATTGTACAAAAAATTATACTGTATTTTGTAAGTAGGTTT... |
Task1_train_7974 | This variant affects the gene TP63 (tumor protein p63) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | GACGTTCAAGAGTGCTTTGTATACTGACCCTTAACTTGAACACAAAGAATATCTTTTCAATCCCCTTCCGAGGCTGTTGCCTCAGGCTTGGATACCTAAGAGCTTTAGTTCAGCCGGGGTATGGACCATTTATATGGGCTCAGGTTTTATTTTTTTGTCCCCTAGTTGTCTTACCTGCAGTTTGGCCACACCTGCCGGGAGAGAAAGCTGAAGATGGTGGGTAAGTGGTGGATAGCAGCTATAGAAGTCAGAAGGGAGAGAAAGCGAGACAAACAGCTGCTCTTGTCAGCATGGGGATAAGTGTAAAGAGATTAATAGTT... | GACGTTCAAGAGTGCTTTGTATACTGACCCTTAACTTGAACACAAAGAATATCTTTTCAATCCCCTTCCGAGGCTGTTGCCTCAGGCTTGGATACCTAAGAGCTTTAGTTCAGCCGGGGTATGGACCATTTATATGGGCTCAGGTTTTATTTTTTTGTCCCCTAGTTGTCTTACCTGCAGTTTGGCCACACCTGCCGGGAGAGAAAGCTGAAGATGGTGGGTAAGTGGTGGATAGCAGCTATAGAAGTCAGAAGGGAGAGAAAGCGAGACAAACAGCTGCTCTTGTCAGCATGGGGATAAGTGTAAAGAGATTAATAGTT... |
Task1_train_7975 | 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; TP63-Related Spectrum Disorders | CGATGAAGCTATTATTATTTATCATTAATTAAGCTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCAT... | CGATGAAGCTATTATTATTTATCATTAATTAAGCTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCAT... |
Task1_train_7976 | Given this variant in gene TP63 (tumor protein p63) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Split hand-foot malformation 4 | TGAAGCTATTATTATTTATCATTAATTAAGCTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGT... | TGAAGCTATTATTATTTATCATTAATTAAGCTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGT... |
Task1_train_7977 | Here is a genetic alteration in TP63 (tumor protein p63) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... |
Task1_train_7978 | A variant on Chromosome 3 in gene TP63 (tumor protein p63) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Rapp-Hodgkin syndrome | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... |
Task1_train_7979 | A variant affecting Chromosome 3, within the gene TP63 (tumor protein p63), has been observed. Determine if it's benign or associated with disease. | Pathogenic; TP63-Related Spectrum Disorders | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... |
Task1_train_7980 | 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; Split hand-foot malformation 4 | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... |
Task1_train_7981 | 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; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... |
Task1_train_7982 | This gene mutation involves TP63 (tumor protein p63) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; ADULT syndrome | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... |
Task1_train_7983 | This genomic variant is located on Chromosome 3, within the TP63 (tumor protein p63) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Orofacial cleft 8 | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... |
Task1_train_7984 | This alteration in TP63 (tumor protein p63) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... |
Task1_train_7985 | This gene mutation involves TP63 (tumor protein p63) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Rapp-Hodgkin syndrome | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... |
Task1_train_7986 | A variant on Chromosome 3 in gene TP63 (tumor protein p63) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Premature ovarian failure 21 | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... |
Task1_train_7987 | 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; Limb-mammary syndrome | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... | CTTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAA... |
Task1_train_7988 | A sequence alteration has been identified in TP63 (tumor protein p63) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Split hand-foot malformation 4 | TTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAAA... | TTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAAA... |
Task1_train_7989 | A variant has been detected on Chromosome 3 in TP63 (tumor protein p63). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; TP63-Related Spectrum Disorders | TTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAAA... | TTAAAAATTAGATTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAAA... |
Task1_train_7990 | 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; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | TTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAAAACACGAATGGAT... | TTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAAAACACGAATGGAT... |
Task1_train_7991 | 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 | TTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAAAACACGAATGGAT... | TTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAAAACACGAATGGAT... |
Task1_train_7992 | A variant affecting Chromosome 3, within the gene TP63 (tumor protein p63), has been observed. Determine if it's benign or associated with disease. | Pathogenic; TP63-Related Spectrum Disorders | TTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAAAACACGAATGGAT... | TTCCCACCCCCATCCCCGAGAATGAACAAGAATTAGCACTTGACGATCCTTAATTTTATTCTTAATGCTTTTATACTGTACTCTCTCGAGCTTGATTTATAGTATATCAGTTATTAAAATGGAATGTTTTCCTTAAGAAACTTCTACGCTGAACACTTAACCTTCATTTCTGCAATCTTTACATACTTGGAAGGATACCTTATTTGCCTTTAGGTATTAGTTGACAGACTTATTTTTCAGTCATCTTTCCTAAGGGTCATCTTACGAAATTCATGGTTAGATTATGCGTTATATACCTCCTAACGAAAACACGAATGGAT... |
Task1_train_7993 | A genomic change on Chromosome 3 affects TP63 (tumor protein p63). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | TTATCTTTACTCCTTCCTGCTTCCTTCTTTTTATTTTTCTTGCCTTTAAAATAAAATAAGAGGCTGGGTACGGTGGCTCATGCCCGTAATCCCAGCACTTTGCGAGGCCGAGGTGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCCAAGCTTGCAGTGAACCAAGATGGCACCACTGCACTCCAGTCTGG... | TTATCTTTACTCCTTCCTGCTTCCTTCTTTTTATTTTTCTTGCCTTTAAAATAAAATAAGAGGCTGGGTACGGTGGCTCATGCCCGTAATCCCAGCACTTTGCGAGGCCGAGGTGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCCAAGCTTGCAGTGAACCAAGATGGCACCACTGCACTCCAGTCTGG... |
Task1_train_7994 | 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 | CACCAAGATAACATACTATTTGTAAGCGTTTTCCCATTTTTTAAACATAAAAATTGTTTTTAGTTTTAACCATAATAGATGATGCAGCAGAGAACATTTTGATATGCTTCACTTTTTACTTTTATTGAATGGTTTTTGTAGACTGGGACTATAGGACCTAAGAGCTGTTAAAAACAGCTTTACGGGTCCCAGTTCTTGGAGCATCTTCTTTTTTTTGGAGCTCTGCTAAATATCACAATTTTATGAAACTTTACTCAGTCTCTTTTTTAAAATTGCATCCCTTTTCTTACACCCAACTTGGGACTCCTTCAACACACAAA... | CACCAAGATAACATACTATTTGTAAGCGTTTTCCCATTTTTTAAACATAAAAATTGTTTTTAGTTTTAACCATAATAGATGATGCAGCAGAGAACATTTTGATATGCTTCACTTTTTACTTTTATTGAATGGTTTTTGTAGACTGGGACTATAGGACCTAAGAGCTGTTAAAAACAGCTTTACGGGTCCCAGTTCTTGGAGCATCTTCTTTTTTTTGGAGCTCTGCTAAATATCACAATTTTATGAAACTTTACTCAGTCTCTTTTTTAAAATTGCATCCCTTTTCTTACACCCAACTTGGGACTCCTTCAACACACAAA... |
Task1_train_7995 | A variant was discovered on Chromosome 3, affecting TP63 (tumor protein p63). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; TP63-related disorder | ATTTGTAAGCGTTTTCCCATTTTTTAAACATAAAAATTGTTTTTAGTTTTAACCATAATAGATGATGCAGCAGAGAACATTTTGATATGCTTCACTTTTTACTTTTATTGAATGGTTTTTGTAGACTGGGACTATAGGACCTAAGAGCTGTTAAAAACAGCTTTACGGGTCCCAGTTCTTGGAGCATCTTCTTTTTTTTGGAGCTCTGCTAAATATCACAATTTTATGAAACTTTACTCAGTCTCTTTTTTAAAATTGCATCCCTTTTCTTACACCCAACTTGGGACTCCTTCAACACACAAACACCAGAACGTTTCTTA... | ATTTGTAAGCGTTTTCCCATTTTTTAAACATAAAAATTGTTTTTAGTTTTAACCATAATAGATGATGCAGCAGAGAACATTTTGATATGCTTCACTTTTTACTTTTATTGAATGGTTTTTGTAGACTGGGACTATAGGACCTAAGAGCTGTTAAAAACAGCTTTACGGGTCCCAGTTCTTGGAGCATCTTCTTTTTTTTGGAGCTCTGCTAAATATCACAATTTTATGAAACTTTACTCAGTCTCTTTTTTAAAATTGCATCCCTTTTCTTACACCCAACTTGGGACTCCTTCAACACACAAACACCAGAACGTTTCTTA... |
Task1_train_7996 | This sequence variant lies in TP63 (tumor protein p63) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; TP63-Related Spectrum Disorders | ATTTGTAAGCGTTTTCCCATTTTTTAAACATAAAAATTGTTTTTAGTTTTAACCATAATAGATGATGCAGCAGAGAACATTTTGATATGCTTCACTTTTTACTTTTATTGAATGGTTTTTGTAGACTGGGACTATAGGACCTAAGAGCTGTTAAAAACAGCTTTACGGGTCCCAGTTCTTGGAGCATCTTCTTTTTTTTGGAGCTCTGCTAAATATCACAATTTTATGAAACTTTACTCAGTCTCTTTTTTAAAATTGCATCCCTTTTCTTACACCCAACTTGGGACTCCTTCAACACACAAACACCAGAACGTTTCTTA... | ATTTGTAAGCGTTTTCCCATTTTTTAAACATAAAAATTGTTTTTAGTTTTAACCATAATAGATGATGCAGCAGAGAACATTTTGATATGCTTCACTTTTTACTTTTATTGAATGGTTTTTGTAGACTGGGACTATAGGACCTAAGAGCTGTTAAAAACAGCTTTACGGGTCCCAGTTCTTGGAGCATCTTCTTTTTTTTGGAGCTCTGCTAAATATCACAATTTTATGAAACTTTACTCAGTCTCTTTTTTAAAATTGCATCCCTTTTCTTACACCCAACTTGGGACTCCTTCAACACACAAACACCAGAACGTTTCTTA... |
Task1_train_7997 | This variant lies on Chromosome 3 and affects the gene TP63 (tumor protein p63). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | TGTAAGCGTTTTCCCATTTTTTAAACATAAAAATTGTTTTTAGTTTTAACCATAATAGATGATGCAGCAGAGAACATTTTGATATGCTTCACTTTTTACTTTTATTGAATGGTTTTTGTAGACTGGGACTATAGGACCTAAGAGCTGTTAAAAACAGCTTTACGGGTCCCAGTTCTTGGAGCATCTTCTTTTTTTTGGAGCTCTGCTAAATATCACAATTTTATGAAACTTTACTCAGTCTCTTTTTTAAAATTGCATCCCTTTTCTTACACCCAACTTGGGACTCCTTCAACACACAAACACCAGAACGTTTCTTATCT... | TGTAAGCGTTTTCCCATTTTTTAAACATAAAAATTGTTTTTAGTTTTAACCATAATAGATGATGCAGCAGAGAACATTTTGATATGCTTCACTTTTTACTTTTATTGAATGGTTTTTGTAGACTGGGACTATAGGACCTAAGAGCTGTTAAAAACAGCTTTACGGGTCCCAGTTCTTGGAGCATCTTCTTTTTTTTGGAGCTCTGCTAAATATCACAATTTTATGAAACTTTACTCAGTCTCTTTTTTAAAATTGCATCCCTTTTCTTACACCCAACTTGGGACTCCTTCAACACACAAACACCAGAACGTTTCTTATCT... |
Task1_train_7998 | This variant impacts the gene TP63 (tumor protein p63) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; TP63-Related Spectrum Disorders | TGTAAGCGTTTTCCCATTTTTTAAACATAAAAATTGTTTTTAGTTTTAACCATAATAGATGATGCAGCAGAGAACATTTTGATATGCTTCACTTTTTACTTTTATTGAATGGTTTTTGTAGACTGGGACTATAGGACCTAAGAGCTGTTAAAAACAGCTTTACGGGTCCCAGTTCTTGGAGCATCTTCTTTTTTTTGGAGCTCTGCTAAATATCACAATTTTATGAAACTTTACTCAGTCTCTTTTTTAAAATTGCATCCCTTTTCTTACACCCAACTTGGGACTCCTTCAACACACAAACACCAGAACGTTTCTTATCT... | TGTAAGCGTTTTCCCATTTTTTAAACATAAAAATTGTTTTTAGTTTTAACCATAATAGATGATGCAGCAGAGAACATTTTGATATGCTTCACTTTTTACTTTTATTGAATGGTTTTTGTAGACTGGGACTATAGGACCTAAGAGCTGTTAAAAACAGCTTTACGGGTCCCAGTTCTTGGAGCATCTTCTTTTTTTTGGAGCTCTGCTAAATATCACAATTTTATGAAACTTTACTCAGTCTCTTTTTTAAAATTGCATCCCTTTTCTTACACCCAACTTGGGACTCCTTCAACACACAAACACCAGAACGTTTCTTATCT... |
Task1_train_7999 | This gene mutation involves TP63 (tumor protein p63) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; TP63-Related Spectrum Disorders | GTAAGCGTTTTCCCATTTTTTAAACATAAAAATTGTTTTTAGTTTTAACCATAATAGATGATGCAGCAGAGAACATTTTGATATGCTTCACTTTTTACTTTTATTGAATGGTTTTTGTAGACTGGGACTATAGGACCTAAGAGCTGTTAAAAACAGCTTTACGGGTCCCAGTTCTTGGAGCATCTTCTTTTTTTTGGAGCTCTGCTAAATATCACAATTTTATGAAACTTTACTCAGTCTCTTTTTTAAAATTGCATCCCTTTTCTTACACCCAACTTGGGACTCCTTCAACACACAAACACCAGAACGTTTCTTATCTT... | GTAAGCGTTTTCCCATTTTTTAAACATAAAAATTGTTTTTAGTTTTAACCATAATAGATGATGCAGCAGAGAACATTTTGATATGCTTCACTTTTTACTTTTATTGAATGGTTTTTGTAGACTGGGACTATAGGACCTAAGAGCTGTTAAAAACAGCTTTACGGGTCCCAGTTCTTGGAGCATCTTCTTTTTTTTGGAGCTCTGCTAAATATCACAATTTTATGAAACTTTACTCAGTCTCTTTTTTAAAATTGCATCCCTTTTCTTACACCCAACTTGGGACTCCTTCAACACACAAACACCAGAACGTTTCTTATCTT... |
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