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 |
|---|---|---|---|---|
Task1_train_6400 | A change on Chromosome 3 affects gene GLB1 (galactosidase beta 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | TTAATCTCCAACTTCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTT... | TTAATCTCCAACTTCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTT... |
Task1_train_6401 | This sequence change occurs on Chromosome 3, altering GLB1 (galactosidase beta 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; GM1 gangliosidosis type 3 | TTAATCTCCAACTTCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTT... | TTAATCTCCAACTTCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTT... |
Task1_train_6402 | This variant affects gene GLB1 (galactosidase beta 1) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Infantile GM1 gangliosidosis | TTAATCTCCAACTTCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTT... | TTAATCTCCAACTTCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTT... |
Task1_train_6403 | This sequence variant lies in GLB1 (galactosidase beta 1) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; GM1 gangliosidosis type 2 | TTAATCTCCAACTTCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTT... | TTAATCTCCAACTTCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTT... |
Task1_train_6404 | Gene GLB1 (galactosidase beta 1) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | TTAATCTCCAACTTCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTT... | TTAATCTCCAACTTCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTT... |
Task1_train_6405 | This sequence variant lies in GLB1 (galactosidase beta 1) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; GM1 gangliosidosis | TTAATCTCCAACTTCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTT... | TTAATCTCCAACTTCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTT... |
Task1_train_6406 | A variant found in Chromosome 3 affects GLB1 (galactosidase beta 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Spondyloepiphyseal dysplasia | TTAATCTCCAACTTCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTT... | TTAATCTCCAACTTCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTT... |
Task1_train_6407 | A genetic alteration is present in GLB1 (galactosidase beta 1) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | CTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTTCTCTACCAGAAGGTCCAGAGTGGCTCCAGCTTTCCCT... | CTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTTCTCTACCAGAAGGTCCAGAGTGGCTCCAGCTTTCCCT... |
Task1_train_6408 | Given this context: Chromosome 3, gene GLB1 (galactosidase beta 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; GM1 gangliosidosis | CTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTTCTCTACCAGAAGGTCCAGAGTGGCTCCAGCTTTCCCT... | CTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTTCTCTACCAGAAGGTCCAGAGTGGCTCCAGCTTTCCCT... |
Task1_train_6409 | This alteration occurs within gene GLB1 (galactosidase beta 1) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | TGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTTCTCTACCAGAAGGTCCAGAGTGGCTCCAGCTTTCCCTGTTATGTTCAGAGTGATC... | TGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTTCTCTACCAGAAGGTCCAGAGTGGCTCCAGCTTTCCCTGTTATGTTCAGAGTGATC... |
Task1_train_6410 | With a mutation on Chromosome 3 in gene GLB1 (galactosidase beta 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; GM1 gangliosidosis | TGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTTCTCTACCAGAAGGTCCAGAGTGGCTCCAGCTTTCCCTGTTATGTTCAGAGTGATC... | TGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTTCTCTACCAGAAGGTCCAGAGTGGCTCCAGCTTTCCCTGTTATGTTCAGAGTGATC... |
Task1_train_6411 | The variant affects gene GLB1 (galactosidase beta 1), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | TGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTTCTCTACCAGAAGGTCCAGAGTGGCTCCAGCTTTCCCTGTTATGTTCAGAGTGATC... | TGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTTCTCTACCAGAAGGTCCAGAGTGGCTCCAGCTTTCCCTGTTATGTTCAGAGTGATC... |
Task1_train_6412 | A sequence alteration has been identified in GLB1 (galactosidase beta 1) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | TGTATGTAGAATATAGTCAACAACTGTAAAATATACTTTCTTTTTATGCGCACATTGACCATTAATATTGGTGTATGTCAGGCTCTAAGACTAGGCTCAGCAGCTTTCAAGGGATTGGTATCACAGACTATATTCTCTAACCAGAATGCAAAAAGACTAGAAATCAAAAAAACAGGAAAGTACTTATTTCCAGTAATTTAAAAAACACATATCAATGGTGAAGAGAAATCAAAATAGATATGTTTAGAAGCAAACAGTAAGAAATAGATTGCACATCAAAACTTACGAGATAAAGCCACAGCAGTACTTGAAGGAAATTT... | TGTATGTAGAATATAGTCAACAACTGTAAAATATACTTTCTTTTTATGCGCACATTGACCATTAATATTGGTGTATGTCAGGCTCTAAGACTAGGCTCAGCAGCTTTCAAGGGATTGGTATCACAGACTATATTCTCTAACCAGAATGCAAAAAGACTAGAAATCAAAAAAACAGGAAAGTACTTATTTCCAGTAATTTAAAAAACACATATCAATGGTGAAGAGAAATCAAAATAGATATGTTTAGAAGCAAACAGTAAGAAATAGATTGCACATCAAAACTTACGAGATAAAGCCACAGCAGTACTTGAAGGAAATTT... |
Task1_train_6413 | A variant on Chromosome 3 in gene GLB1 (galactosidase beta 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; GM1 gangliosidosis | TGTATGTAGAATATAGTCAACAACTGTAAAATATACTTTCTTTTTATGCGCACATTGACCATTAATATTGGTGTATGTCAGGCTCTAAGACTAGGCTCAGCAGCTTTCAAGGGATTGGTATCACAGACTATATTCTCTAACCAGAATGCAAAAAGACTAGAAATCAAAAAAACAGGAAAGTACTTATTTCCAGTAATTTAAAAAACACATATCAATGGTGAAGAGAAATCAAAATAGATATGTTTAGAAGCAAACAGTAAGAAATAGATTGCACATCAAAACTTACGAGATAAAGCCACAGCAGTACTTGAAGGAAATTT... | TGTATGTAGAATATAGTCAACAACTGTAAAATATACTTTCTTTTTATGCGCACATTGACCATTAATATTGGTGTATGTCAGGCTCTAAGACTAGGCTCAGCAGCTTTCAAGGGATTGGTATCACAGACTATATTCTCTAACCAGAATGCAAAAAGACTAGAAATCAAAAAAACAGGAAAGTACTTATTTCCAGTAATTTAAAAAACACATATCAATGGTGAAGAGAAATCAAAATAGATATGTTTAGAAGCAAACAGTAAGAAATAGATTGCACATCAAAACTTACGAGATAAAGCCACAGCAGTACTTGAAGGAAATTT... |
Task1_train_6414 | The gene GLB1 (galactosidase beta 1) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; GM1 gangliosidosis | TGCGCACATTGACCATTAATATTGGTGTATGTCAGGCTCTAAGACTAGGCTCAGCAGCTTTCAAGGGATTGGTATCACAGACTATATTCTCTAACCAGAATGCAAAAAGACTAGAAATCAAAAAAACAGGAAAGTACTTATTTCCAGTAATTTAAAAAACACATATCAATGGTGAAGAGAAATCAAAATAGATATGTTTAGAAGCAAACAGTAAGAAATAGATTGCACATCAAAACTTACGAGATAAAGCCACAGCAGTACTTGAAGGAAATTTATAACCTTAAATATTTATATTAGAAAAGAAGAAAGGCTGCATTAAA... | TGCGCACATTGACCATTAATATTGGTGTATGTCAGGCTCTAAGACTAGGCTCAGCAGCTTTCAAGGGATTGGTATCACAGACTATATTCTCTAACCAGAATGCAAAAAGACTAGAAATCAAAAAAACAGGAAAGTACTTATTTCCAGTAATTTAAAAAACACATATCAATGGTGAAGAGAAATCAAAATAGATATGTTTAGAAGCAAACAGTAAGAAATAGATTGCACATCAAAACTTACGAGATAAAGCCACAGCAGTACTTGAAGGAAATTTATAACCTTAAATATTTATATTAGAAAAGAAGAAAGGCTGCATTAAA... |
Task1_train_6415 | Here is a genetic alteration in GLB1 (galactosidase beta 1) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | TGCGCACATTGACCATTAATATTGGTGTATGTCAGGCTCTAAGACTAGGCTCAGCAGCTTTCAAGGGATTGGTATCACAGACTATATTCTCTAACCAGAATGCAAAAAGACTAGAAATCAAAAAAACAGGAAAGTACTTATTTCCAGTAATTTAAAAAACACATATCAATGGTGAAGAGAAATCAAAATAGATATGTTTAGAAGCAAACAGTAAGAAATAGATTGCACATCAAAACTTACGAGATAAAGCCACAGCAGTACTTGAAGGAAATTTATAACCTTAAATATTTATATTAGAAAAGAAGAAAGGCTGCATTAAA... | TGCGCACATTGACCATTAATATTGGTGTATGTCAGGCTCTAAGACTAGGCTCAGCAGCTTTCAAGGGATTGGTATCACAGACTATATTCTCTAACCAGAATGCAAAAAGACTAGAAATCAAAAAAACAGGAAAGTACTTATTTCCAGTAATTTAAAAAACACATATCAATGGTGAAGAGAAATCAAAATAGATATGTTTAGAAGCAAACAGTAAGAAATAGATTGCACATCAAAACTTACGAGATAAAGCCACAGCAGTACTTGAAGGAAATTTATAACCTTAAATATTTATATTAGAAAAGAAGAAAGGCTGCATTAAA... |
Task1_train_6416 | Gene GLB1 (galactosidase beta 1) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; GM1 gangliosidosis | TGCGCACATTGACCATTAATATTGGTGTATGTCAGGCTCTAAGACTAGGCTCAGCAGCTTTCAAGGGATTGGTATCACAGACTATATTCTCTAACCAGAATGCAAAAAGACTAGAAATCAAAAAAACAGGAAAGTACTTATTTCCAGTAATTTAAAAAACACATATCAATGGTGAAGAGAAATCAAAATAGATATGTTTAGAAGCAAACAGTAAGAAATAGATTGCACATCAAAACTTACGAGATAAAGCCACAGCAGTACTTGAAGGAAATTTATAACCTTAAATATTTATATTAGAAAAGAAGAAAGGCTGCATTAAA... | TGCGCACATTGACCATTAATATTGGTGTATGTCAGGCTCTAAGACTAGGCTCAGCAGCTTTCAAGGGATTGGTATCACAGACTATATTCTCTAACCAGAATGCAAAAAGACTAGAAATCAAAAAAACAGGAAAGTACTTATTTCCAGTAATTTAAAAAACACATATCAATGGTGAAGAGAAATCAAAATAGATATGTTTAGAAGCAAACAGTAAGAAATAGATTGCACATCAAAACTTACGAGATAAAGCCACAGCAGTACTTGAAGGAAATTTATAACCTTAAATATTTATATTAGAAAAGAAGAAAGGCTGCATTAAA... |
Task1_train_6417 | This gene mutation involves GLB1 (galactosidase beta 1) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | TGCGCACATTGACCATTAATATTGGTGTATGTCAGGCTCTAAGACTAGGCTCAGCAGCTTTCAAGGGATTGGTATCACAGACTATATTCTCTAACCAGAATGCAAAAAGACTAGAAATCAAAAAAACAGGAAAGTACTTATTTCCAGTAATTTAAAAAACACATATCAATGGTGAAGAGAAATCAAAATAGATATGTTTAGAAGCAAACAGTAAGAAATAGATTGCACATCAAAACTTACGAGATAAAGCCACAGCAGTACTTGAAGGAAATTTATAACCTTAAATATTTATATTAGAAAAGAAGAAAGGCTGCATTAAA... | TGCGCACATTGACCATTAATATTGGTGTATGTCAGGCTCTAAGACTAGGCTCAGCAGCTTTCAAGGGATTGGTATCACAGACTATATTCTCTAACCAGAATGCAAAAAGACTAGAAATCAAAAAAACAGGAAAGTACTTATTTCCAGTAATTTAAAAAACACATATCAATGGTGAAGAGAAATCAAAATAGATATGTTTAGAAGCAAACAGTAAGAAATAGATTGCACATCAAAACTTACGAGATAAAGCCACAGCAGTACTTGAAGGAAATTTATAACCTTAAATATTTATATTAGAAAAGAAGAAAGGCTGCATTAAA... |
Task1_train_6418 | Gene GLB1 (galactosidase beta 1) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; GM1 gangliosidosis type 3 | TGCGCACATTGACCATTAATATTGGTGTATGTCAGGCTCTAAGACTAGGCTCAGCAGCTTTCAAGGGATTGGTATCACAGACTATATTCTCTAACCAGAATGCAAAAAGACTAGAAATCAAAAAAACAGGAAAGTACTTATTTCCAGTAATTTAAAAAACACATATCAATGGTGAAGAGAAATCAAAATAGATATGTTTAGAAGCAAACAGTAAGAAATAGATTGCACATCAAAACTTACGAGATAAAGCCACAGCAGTACTTGAAGGAAATTTATAACCTTAAATATTTATATTAGAAAAGAAGAAAGGCTGCATTAAA... | TGCGCACATTGACCATTAATATTGGTGTATGTCAGGCTCTAAGACTAGGCTCAGCAGCTTTCAAGGGATTGGTATCACAGACTATATTCTCTAACCAGAATGCAAAAAGACTAGAAATCAAAAAAACAGGAAAGTACTTATTTCCAGTAATTTAAAAAACACATATCAATGGTGAAGAGAAATCAAAATAGATATGTTTAGAAGCAAACAGTAAGAAATAGATTGCACATCAAAACTTACGAGATAAAGCCACAGCAGTACTTGAAGGAAATTTATAACCTTAAATATTTATATTAGAAAAGAAGAAAGGCTGCATTAAA... |
Task1_train_6419 | This variant affects gene GLB1 (galactosidase beta 1) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Infantile GM1 gangliosidosis | TGCGCACATTGACCATTAATATTGGTGTATGTCAGGCTCTAAGACTAGGCTCAGCAGCTTTCAAGGGATTGGTATCACAGACTATATTCTCTAACCAGAATGCAAAAAGACTAGAAATCAAAAAAACAGGAAAGTACTTATTTCCAGTAATTTAAAAAACACATATCAATGGTGAAGAGAAATCAAAATAGATATGTTTAGAAGCAAACAGTAAGAAATAGATTGCACATCAAAACTTACGAGATAAAGCCACAGCAGTACTTGAAGGAAATTTATAACCTTAAATATTTATATTAGAAAAGAAGAAAGGCTGCATTAAA... | TGCGCACATTGACCATTAATATTGGTGTATGTCAGGCTCTAAGACTAGGCTCAGCAGCTTTCAAGGGATTGGTATCACAGACTATATTCTCTAACCAGAATGCAAAAAGACTAGAAATCAAAAAAACAGGAAAGTACTTATTTCCAGTAATTTAAAAAACACATATCAATGGTGAAGAGAAATCAAAATAGATATGTTTAGAAGCAAACAGTAAGAAATAGATTGCACATCAAAACTTACGAGATAAAGCCACAGCAGTACTTGAAGGAAATTTATAACCTTAAATATTTATATTAGAAAAGAAGAAAGGCTGCATTAAA... |
Task1_train_6420 | Given a variant located on Chromosome 3 and affecting GLB1 (galactosidase beta 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; GM1 gangliosidosis type 2 | TGCGCACATTGACCATTAATATTGGTGTATGTCAGGCTCTAAGACTAGGCTCAGCAGCTTTCAAGGGATTGGTATCACAGACTATATTCTCTAACCAGAATGCAAAAAGACTAGAAATCAAAAAAACAGGAAAGTACTTATTTCCAGTAATTTAAAAAACACATATCAATGGTGAAGAGAAATCAAAATAGATATGTTTAGAAGCAAACAGTAAGAAATAGATTGCACATCAAAACTTACGAGATAAAGCCACAGCAGTACTTGAAGGAAATTTATAACCTTAAATATTTATATTAGAAAAGAAGAAAGGCTGCATTAAA... | TGCGCACATTGACCATTAATATTGGTGTATGTCAGGCTCTAAGACTAGGCTCAGCAGCTTTCAAGGGATTGGTATCACAGACTATATTCTCTAACCAGAATGCAAAAAGACTAGAAATCAAAAAAACAGGAAAGTACTTATTTCCAGTAATTTAAAAAACACATATCAATGGTGAAGAGAAATCAAAATAGATATGTTTAGAAGCAAACAGTAAGAAATAGATTGCACATCAAAACTTACGAGATAAAGCCACAGCAGTACTTGAAGGAAATTTATAACCTTAAATATTTATATTAGAAAAGAAGAAAGGCTGCATTAAA... |
Task1_train_6421 | Here is a mutation in GLB1 (galactosidase beta 1) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | GTATTAAGCCCTGCATGCATTAGCTATTCATCCTGATGCTCTCCCTCCCCTCACCCACCCAGACACGCCCCAGGCACACTATTATCTTATATGCAGTGACATTTGAGTTTTGCAATATCTTCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGA... | GTATTAAGCCCTGCATGCATTAGCTATTCATCCTGATGCTCTCCCTCCCCTCACCCACCCAGACACGCCCCAGGCACACTATTATCTTATATGCAGTGACATTTGAGTTTTGCAATATCTTCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGA... |
Task1_train_6422 | Gene GLB1 (galactosidase beta 1) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; GM1 gangliosidosis | GTATTAAGCCCTGCATGCATTAGCTATTCATCCTGATGCTCTCCCTCCCCTCACCCACCCAGACACGCCCCAGGCACACTATTATCTTATATGCAGTGACATTTGAGTTTTGCAATATCTTCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGA... | GTATTAAGCCCTGCATGCATTAGCTATTCATCCTGATGCTCTCCCTCCCCTCACCCACCCAGACACGCCCCAGGCACACTATTATCTTATATGCAGTGACATTTGAGTTTTGCAATATCTTCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGA... |
Task1_train_6423 | The gene GLB1 (galactosidase beta 1) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; GM1 gangliosidosis type 2 | GCCCTGCATGCATTAGCTATTCATCCTGATGCTCTCCCTCCCCTCACCCACCCAGACACGCCCCAGGCACACTATTATCTTATATGCAGTGACATTTGAGTTTTGCAATATCTTCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAG... | GCCCTGCATGCATTAGCTATTCATCCTGATGCTCTCCCTCCCCTCACCCACCCAGACACGCCCCAGGCACACTATTATCTTATATGCAGTGACATTTGAGTTTTGCAATATCTTCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAG... |
Task1_train_6424 | This variant impacts the gene GLB1 (galactosidase beta 1) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; GM1 gangliosidosis type 3 | GCCCTGCATGCATTAGCTATTCATCCTGATGCTCTCCCTCCCCTCACCCACCCAGACACGCCCCAGGCACACTATTATCTTATATGCAGTGACATTTGAGTTTTGCAATATCTTCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAG... | GCCCTGCATGCATTAGCTATTCATCCTGATGCTCTCCCTCCCCTCACCCACCCAGACACGCCCCAGGCACACTATTATCTTATATGCAGTGACATTTGAGTTTTGCAATATCTTCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAG... |
Task1_train_6425 | Here is a variant affecting GLB1 (galactosidase beta 1) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | GCCCTGCATGCATTAGCTATTCATCCTGATGCTCTCCCTCCCCTCACCCACCCAGACACGCCCCAGGCACACTATTATCTTATATGCAGTGACATTTGAGTTTTGCAATATCTTCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAG... | GCCCTGCATGCATTAGCTATTCATCCTGATGCTCTCCCTCCCCTCACCCACCCAGACACGCCCCAGGCACACTATTATCTTATATGCAGTGACATTTGAGTTTTGCAATATCTTCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAG... |
Task1_train_6426 | The variant affects gene GLB1 (galactosidase beta 1), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Infantile GM1 gangliosidosis | GCCCTGCATGCATTAGCTATTCATCCTGATGCTCTCCCTCCCCTCACCCACCCAGACACGCCCCAGGCACACTATTATCTTATATGCAGTGACATTTGAGTTTTGCAATATCTTCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAG... | GCCCTGCATGCATTAGCTATTCATCCTGATGCTCTCCCTCCCCTCACCCACCCAGACACGCCCCAGGCACACTATTATCTTATATGCAGTGACATTTGAGTTTTGCAATATCTTCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAG... |
Task1_train_6427 | A variant found in Chromosome 3 affects GLB1 (galactosidase beta 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; GM1 gangliosidosis | GCCCTGCATGCATTAGCTATTCATCCTGATGCTCTCCCTCCCCTCACCCACCCAGACACGCCCCAGGCACACTATTATCTTATATGCAGTGACATTTGAGTTTTGCAATATCTTCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAG... | GCCCTGCATGCATTAGCTATTCATCCTGATGCTCTCCCTCCCCTCACCCACCCAGACACGCCCCAGGCACACTATTATCTTATATGCAGTGACATTTGAGTTTTGCAATATCTTCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAG... |
Task1_train_6428 | An alteration has been detected in GLB1 (galactosidase beta 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | GCCCTGCATGCATTAGCTATTCATCCTGATGCTCTCCCTCCCCTCACCCACCCAGACACGCCCCAGGCACACTATTATCTTATATGCAGTGACATTTGAGTTTTGCAATATCTTCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAG... | GCCCTGCATGCATTAGCTATTCATCCTGATGCTCTCCCTCCCCTCACCCACCCAGACACGCCCCAGGCACACTATTATCTTATATGCAGTGACATTTGAGTTTTGCAATATCTTCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAG... |
Task1_train_6429 | The gene GLB1 (galactosidase beta 1) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Infantile GM1 gangliosidosis | GCATTAGCTATTCATCCTGATGCTCTCCCTCCCCTCACCCACCCAGACACGCCCCAGGCACACTATTATCTTATATGCAGTGACATTTGAGTTTTGCAATATCTTCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATG... | GCATTAGCTATTCATCCTGATGCTCTCCCTCCCCTCACCCACCCAGACACGCCCCAGGCACACTATTATCTTATATGCAGTGACATTTGAGTTTTGCAATATCTTCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATG... |
Task1_train_6430 | The following genetic variant occurs in GLB1 (galactosidase beta 1) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; GLB1-related disorder | TCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTT... | TCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTT... |
Task1_train_6431 | Mutation context: Chromosome 3, Gene GLB1 (galactosidase beta 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; GM1 gangliosidosis | TCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTT... | TCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTT... |
Task1_train_6432 | Gene GLB1 (galactosidase beta 1), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; GM1 gangliosidosis | TCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTT... | TCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTT... |
Task1_train_6433 | This sequence variant lies in GLB1 (galactosidase beta 1) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | TCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTT... | TCATTTCTTGGCTCTACTAATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTT... |
Task1_train_6434 | Mutation context: Chromosome 3, Gene GLB1 (galactosidase beta 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | TAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTTTGTCATAATTTTTCCTACACAAAAAAATACAGAAATGTAAAGTGGTGTGGCCTTTTTGGGA... | TAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTTTGTCATAATTTTTCCTACACAAAAAAATACAGAAATGTAAAGTGGTGTGGCCTTTTTGGGA... |
Task1_train_6435 | A variant affecting Chromosome 3, within the gene GLB1 (galactosidase beta 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; GM1 gangliosidosis | TAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTTTGTCATAATTTTTCCTACACAAAAAAATACAGAAATGTAAAGTGGTGTGGCCTTTTTGGGA... | TAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTTTGTCATAATTTTTCCTACACAAAAAAATACAGAAATGTAAAGTGGTGTGGCCTTTTTGGGA... |
Task1_train_6436 | A mutation in GLB1 (galactosidase beta 1), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Infantile GM1 gangliosidosis | AGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTTTGTCATAATTTTTCCTACACAAAAAAATACAGAAATGTAAAGTGGTGTGGCCTTTTTGGGAAACACTATGGCAGTTCCTGAAAC... | AGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTTTGTCATAATTTTTCCTACACAAAAAAATACAGAAATGTAAAGTGGTGTGGCCTTTTTGGGAAACACTATGGCAGTTCCTGAAAC... |
Task1_train_6437 | This alteration in GLB1 (galactosidase beta 1) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; GM1 gangliosidosis | GAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTTTGTCATAATTTTTCCTACACAAAAAAATACAGAAATGTAAAGTGGTGTGGCCTTTTTGGGAAACACTATGGCAGTTCCTGAAACTCTAAACATAGAGTTA... | GAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTTTGTCATAATTTTTCCTACACAAAAAAATACAGAAATGTAAAGTGGTGTGGCCTTTTTGGGAAACACTATGGCAGTTCCTGAAACTCTAAACATAGAGTTA... |
Task1_train_6438 | This variant impacts the gene GLB1 (galactosidase beta 1) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | GAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTTTGTCATAATTTTTCCTACACAAAAAAATACAGAAATGTAAAGTGGTGTGGCCTTTTTGGGAAACACTATGGCAGTTCCTGAAACTCTAAACATAGAGTTA... | GAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTTTGTCATAATTTTTCCTACACAAAAAAATACAGAAATGTAAAGTGGTGTGGCCTTTTTGGGAAACACTATGGCAGTTCCTGAAACTCTAAACATAGAGTTA... |
Task1_train_6439 | This variant impacts the gene GLB1 (galactosidase beta 1) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; GM1 gangliosidosis | TAGCCAGGCATGGTGGTGCATGCCTGTAATCCCATAATCCCAGCTACTTGGAGGCTGAGGCAGGAGGATCCCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGTTGAGATTGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTGTCTACAAAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAGAAAATTTAGGAGAGGATAAACAAAAAAAGGAAAATAAAATTGTCTGTGGGCACACCCCTCCTCAAATTAATCAACAGAAACATTCTAGCATAAGTTTCTACAGATATTAAAGTGCTCTTACCATTCCAATAGG... | TAGCCAGGCATGGTGGTGCATGCCTGTAATCCCATAATCCCAGCTACTTGGAGGCTGAGGCAGGAGGATCCCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGTTGAGATTGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTGTCTACAAAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAGAAAATTTAGGAGAGGATAAACAAAAAAAGGAAAATAAAATTGTCTGTGGGCACACCCCTCCTCAAATTAATCAACAGAAACATTCTAGCATAAGTTTCTACAGATATTAAAGTGCTCTTACCATTCCAATAGG... |
Task1_train_6440 | Given this context: Chromosome 3, gene GLB1 (galactosidase beta 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | TAGCCAGGCATGGTGGTGCATGCCTGTAATCCCATAATCCCAGCTACTTGGAGGCTGAGGCAGGAGGATCCCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGTTGAGATTGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTGTCTACAAAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAGAAAATTTAGGAGAGGATAAACAAAAAAAGGAAAATAAAATTGTCTGTGGGCACACCCCTCCTCAAATTAATCAACAGAAACATTCTAGCATAAGTTTCTACAGATATTAAAGTGCTCTTACCATTCCAATAGG... | TAGCCAGGCATGGTGGTGCATGCCTGTAATCCCATAATCCCAGCTACTTGGAGGCTGAGGCAGGAGGATCCCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGTTGAGATTGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTGTCTACAAAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAGAAAATTTAGGAGAGGATAAACAAAAAAAGGAAAATAAAATTGTCTGTGGGCACACCCCTCCTCAAATTAATCAACAGAAACATTCTAGCATAAGTTTCTACAGATATTAAAGTGCTCTTACCATTCCAATAGG... |
Task1_train_6441 | Gene GLB1 (galactosidase beta 1) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; GM1 gangliosidosis | TAGCCAGGCATGGTGGTGCATGCCTGTAATCCCATAATCCCAGCTACTTGGAGGCTGAGGCAGGAGGATCCCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGTTGAGATTGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTGTCTACAAAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAGAAAATTTAGGAGAGGATAAACAAAAAAAGGAAAATAAAATTGTCTGTGGGCACACCCCTCCTCAAATTAATCAACAGAAACATTCTAGCATAAGTTTCTACAGATATTAAAGTGCTCTTACCATTCCAATAGG... | TAGCCAGGCATGGTGGTGCATGCCTGTAATCCCATAATCCCAGCTACTTGGAGGCTGAGGCAGGAGGATCCCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGTTGAGATTGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTGTCTACAAAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAGAAAATTTAGGAGAGGATAAACAAAAAAAGGAAAATAAAATTGTCTGTGGGCACACCCCTCCTCAAATTAATCAACAGAAACATTCTAGCATAAGTTTCTACAGATATTAAAGTGCTCTTACCATTCCAATAGG... |
Task1_train_6442 | A mutation found in GLB1 (galactosidase beta 1) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; GM1 gangliosidosis | TAGCCAGGCATGGTGGTGCATGCCTGTAATCCCATAATCCCAGCTACTTGGAGGCTGAGGCAGGAGGATCCCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGTTGAGATTGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTGTCTACAAAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAGAAAATTTAGGAGAGGATAAACAAAAAAAGGAAAATAAAATTGTCTGTGGGCACACCCCTCCTCAAATTAATCAACAGAAACATTCTAGCATAAGTTTCTACAGATATTAAAGTGCTCTTACCATTCCAATAGG... | TAGCCAGGCATGGTGGTGCATGCCTGTAATCCCATAATCCCAGCTACTTGGAGGCTGAGGCAGGAGGATCCCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGTTGAGATTGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTGTCTACAAAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAGAAAATTTAGGAGAGGATAAACAAAAAAAGGAAAATAAAATTGTCTGTGGGCACACCCCTCCTCAAATTAATCAACAGAAACATTCTAGCATAAGTTTCTACAGATATTAAAGTGCTCTTACCATTCCAATAGG... |
Task1_train_6443 | A genetic alteration is present in GLB1 (galactosidase beta 1) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | TAGCCAGGCATGGTGGTGCATGCCTGTAATCCCATAATCCCAGCTACTTGGAGGCTGAGGCAGGAGGATCCCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGTTGAGATTGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTGTCTACAAAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAGAAAATTTAGGAGAGGATAAACAAAAAAAGGAAAATAAAATTGTCTGTGGGCACACCCCTCCTCAAATTAATCAACAGAAACATTCTAGCATAAGTTTCTACAGATATTAAAGTGCTCTTACCATTCCAATAGG... | TAGCCAGGCATGGTGGTGCATGCCTGTAATCCCATAATCCCAGCTACTTGGAGGCTGAGGCAGGAGGATCCCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGTTGAGATTGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTGTCTACAAAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAGAAAATTTAGGAGAGGATAAACAAAAAAAGGAAAATAAAATTGTCTGTGGGCACACCCCTCCTCAAATTAATCAACAGAAACATTCTAGCATAAGTTTCTACAGATATTAAAGTGCTCTTACCATTCCAATAGG... |
Task1_train_6444 | A mutation found in GLB1 (galactosidase beta 1) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Inborn genetic diseases | AGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGT... | AGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGT... |
Task1_train_6445 | Consider this mutation in GLB1 (galactosidase beta 1) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; GM1 gangliosidosis | AGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGT... | AGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGT... |
Task1_train_6446 | This genomic variant is located on Chromosome 3, within the GLB1 (galactosidase beta 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | AGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGT... | AGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGT... |
Task1_train_6447 | This alteration in GLB1 (galactosidase beta 1) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; GM1 gangliosidosis | AGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGT... | AGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGT... |
Task1_train_6448 | A genetic alteration is present in GLB1 (galactosidase beta 1) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | AGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGT... | AGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGT... |
Task1_train_6449 | This variant impacts the gene GLB1 (galactosidase beta 1) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Infantile GM1 gangliosidosis | AGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGT... | AGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGT... |
Task1_train_6450 | Mutation context: Chromosome 3, Gene GLB1 (galactosidase beta 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; GM1 gangliosidosis type 2 | AGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGT... | AGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGT... |
Task1_train_6451 | A variant on Chromosome 3 in gene GLB1 (galactosidase beta 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; GM1 gangliosidosis type 3 | AGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGT... | AGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGT... |
Task1_train_6452 | A genetic alteration is present in GLB1 (galactosidase beta 1) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Infantile GM1 gangliosidosis | AGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCG... | AGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCG... |
Task1_train_6453 | This mutation occurs in GLB1 (galactosidase beta 1) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; GM1 gangliosidosis | AGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCG... | AGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCG... |
Task1_train_6454 | With a mutation on Chromosome 3 in gene GLB1 (galactosidase beta 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; GM1 gangliosidosis type 3 | AGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCG... | AGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCG... |
Task1_train_6455 | Gene GLB1 (galactosidase beta 1) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | AGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCG... | AGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCG... |
Task1_train_6456 | Here is a mutation in GLB1 (galactosidase beta 1) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; GM1 gangliosidosis type 2 | AGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCG... | AGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCG... |
Task1_train_6457 | Gene GLB1 (galactosidase beta 1) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Infantile GM1 gangliosidosis | AGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCG... | AGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCG... |
Task1_train_6458 | A mutation on Chromosome 3 affecting GLB1 (galactosidase beta 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; GM1 gangliosidosis type 2 | AGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCG... | AGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCG... |
Task1_train_6459 | Chromosome 3 houses a mutation in gene GLB1 (galactosidase beta 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; GM1 gangliosidosis | AGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCG... | AGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCG... |
Task1_train_6460 | Assess the clinical impact of this variant on gene GLB1 (galactosidase beta 1), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | AGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCG... | AGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCG... |
Task1_train_6461 | A genetic alteration is present in GLB1 (galactosidase beta 1) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | GACAGAGTCACCTGGCAGGACCCAGGGTCAAGTTAAAGTCATCTGAGGTTGCTAGGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATG... | GACAGAGTCACCTGGCAGGACCCAGGGTCAAGTTAAAGTCATCTGAGGTTGCTAGGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATG... |
Task1_train_6462 | Located on Chromosome 3, this mutation impacts GLB1 (galactosidase beta 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; GM1 gangliosidosis type 2 | GACAGAGTCACCTGGCAGGACCCAGGGTCAAGTTAAAGTCATCTGAGGTTGCTAGGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATG... | GACAGAGTCACCTGGCAGGACCCAGGGTCAAGTTAAAGTCATCTGAGGTTGCTAGGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATG... |
Task1_train_6463 | Gene GLB1 (galactosidase beta 1) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Infantile GM1 gangliosidosis | GACAGAGTCACCTGGCAGGACCCAGGGTCAAGTTAAAGTCATCTGAGGTTGCTAGGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATG... | GACAGAGTCACCTGGCAGGACCCAGGGTCAAGTTAAAGTCATCTGAGGTTGCTAGGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATG... |
Task1_train_6464 | This gene mutation involves GLB1 (galactosidase beta 1) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; GM1 gangliosidosis type 3 | GACAGAGTCACCTGGCAGGACCCAGGGTCAAGTTAAAGTCATCTGAGGTTGCTAGGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATG... | GACAGAGTCACCTGGCAGGACCCAGGGTCAAGTTAAAGTCATCTGAGGTTGCTAGGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATG... |
Task1_train_6465 | A change on Chromosome 3 affects gene GLB1 (galactosidase beta 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | GACAGAGTCACCTGGCAGGACCCAGGGTCAAGTTAAAGTCATCTGAGGTTGCTAGGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATG... | GACAGAGTCACCTGGCAGGACCCAGGGTCAAGTTAAAGTCATCTGAGGTTGCTAGGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATG... |
Task1_train_6466 | Gene GLB1 (galactosidase beta 1) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; GM1 gangliosidosis | GACAGAGTCACCTGGCAGGACCCAGGGTCAAGTTAAAGTCATCTGAGGTTGCTAGGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATG... | GACAGAGTCACCTGGCAGGACCCAGGGTCAAGTTAAAGTCATCTGAGGTTGCTAGGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATG... |
Task1_train_6467 | This alteration occurs within gene GLB1 (galactosidase beta 1) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | GGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATGTAGGAAAATGTGGTTCCTATTAGCTTAACCAGTACAGACACAAGATGGTAAAAA... | GGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATGTAGGAAAATGTGGTTCCTATTAGCTTAACCAGTACAGACACAAGATGGTAAAAA... |
Task1_train_6468 | This genomic variant is located on Chromosome 3, within the GLB1 (galactosidase beta 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Infantile GM1 gangliosidosis | GGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATGTAGGAAAATGTGGTTCCTATTAGCTTAACCAGTACAGACACAAGATGGTAAAAA... | GGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATGTAGGAAAATGTGGTTCCTATTAGCTTAACCAGTACAGACACAAGATGGTAAAAA... |
Task1_train_6469 | An alteration has been detected in GLB1 (galactosidase beta 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; GM1 gangliosidosis type 3 | GGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATGTAGGAAAATGTGGTTCCTATTAGCTTAACCAGTACAGACACAAGATGGTAAAAA... | GGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATGTAGGAAAATGTGGTTCCTATTAGCTTAACCAGTACAGACACAAGATGGTAAAAA... |
Task1_train_6470 | Gene GLB1 (galactosidase beta 1) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; GM1 gangliosidosis type 2 | GGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATGTAGGAAAATGTGGTTCCTATTAGCTTAACCAGTACAGACACAAGATGGTAAAAA... | GGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATGTAGGAAAATGTGGTTCCTATTAGCTTAACCAGTACAGACACAAGATGGTAAAAA... |
Task1_train_6471 | Given this context: Chromosome 3, gene GLB1 (galactosidase beta 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; GM1 gangliosidosis | GGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATGTAGGAAAATGTGGTTCCTATTAGCTTAACCAGTACAGACACAAGATGGTAAAAA... | GGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATGTAGGAAAATGTGGTTCCTATTAGCTTAACCAGTACAGACACAAGATGGTAAAAA... |
Task1_train_6472 | Here is a genetic alteration in GLB1 (galactosidase beta 1) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | GGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATGTAGGAAAATGTGGTTCCTATTAGCTTAACCAGTACAGACACAAGATGGTAAAAA... | GGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCAGACTTGATATCTTCATGTAGGAAAATGTGGTTCCTATTAGCTTAACCAGTACAGACACAAGATGGTAAAAA... |
Task1_train_6473 | Assess the clinical impact of this variant on gene GLB1 (galactosidase beta 1), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; GM1 gangliosidosis | GTTTGTCCCTCTGAAACTCATGTTGAAATCGAATCCCCAATGTGGTAGTATTGAGAGGTGGGGCCTTTAAGAGGTGTTGAGTCATGAGGGCTCAGCCCTCATAAGTAGATCAATCCACTCATGGATTAATAGATTAATAGGTTAATGGATTCATGGGTCATCATGGGAATGGGACTGGTGGCTTTATAAGAAGAGGGAGAGAGATCTGAGCTAGGACACTCAGCCCCCTCACCATGTGATGCCCTGTGCCCCCTCAGGACTCTGCAGAGTCCCCACCAGCAAGAAGGCCCTCACCAGATATAGCCCCTCCACCTTGAACT... | GTTTGTCCCTCTGAAACTCATGTTGAAATCGAATCCCCAATGTGGTAGTATTGAGAGGTGGGGCCTTTAAGAGGTGTTGAGTCATGAGGGCTCAGCCCTCATAAGTAGATCAATCCACTCATGGATTAATAGATTAATAGGTTAATGGATTCATGGGTCATCATGGGAATGGGACTGGTGGCTTTATAAGAAGAGGGAGAGAGATCTGAGCTAGGACACTCAGCCCCCTCACCATGTGATGCCCTGTGCCCCCTCAGGACTCTGCAGAGTCCCCACCAGCAAGAAGGCCCTCACCAGATATAGCCCCTCCACCTTGAACT... |
Task1_train_6474 | Assess the clinical impact of this variant on gene GLB1 (galactosidase beta 1), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; GM1 gangliosidosis | GGCATAAAGATTAAATGAGTTACCACAGTGAAAACACCAATAATATGCTAAGCGTGCAAAACATGAAGGTACTGGAGTAAGACAAAGAAAAAAACTATCATTTACACATTGCTCTATAAAAGTGGCCAGAATATAGAAGGCATTGCAGCTACCAAGCAATCCAATGACACCATCCCAGAAACTGTCATTTTGTTTTTATTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCAGGAATGCAATGGCGCAATCTGGGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGCAATTCTCCTGCCTCA... | GGCATAAAGATTAAATGAGTTACCACAGTGAAAACACCAATAATATGCTAAGCGTGCAAAACATGAAGGTACTGGAGTAAGACAAAGAAAAAAACTATCATTTACACATTGCTCTATAAAAGTGGCCAGAATATAGAAGGCATTGCAGCTACCAAGCAATCCAATGACACCATCCCAGAAACTGTCATTTTGTTTTTATTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCAGGAATGCAATGGCGCAATCTGGGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGCAATTCTCCTGCCTCA... |
Task1_train_6475 | A genomic change on Chromosome 3 affects GLB1 (galactosidase beta 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | GGCATAAAGATTAAATGAGTTACCACAGTGAAAACACCAATAATATGCTAAGCGTGCAAAACATGAAGGTACTGGAGTAAGACAAAGAAAAAAACTATCATTTACACATTGCTCTATAAAAGTGGCCAGAATATAGAAGGCATTGCAGCTACCAAGCAATCCAATGACACCATCCCAGAAACTGTCATTTTGTTTTTATTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCAGGAATGCAATGGCGCAATCTGGGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGCAATTCTCCTGCCTCA... | GGCATAAAGATTAAATGAGTTACCACAGTGAAAACACCAATAATATGCTAAGCGTGCAAAACATGAAGGTACTGGAGTAAGACAAAGAAAAAAACTATCATTTACACATTGCTCTATAAAAGTGGCCAGAATATAGAAGGCATTGCAGCTACCAAGCAATCCAATGACACCATCCCAGAAACTGTCATTTTGTTTTTATTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCAGGAATGCAATGGCGCAATCTGGGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGCAATTCTCCTGCCTCA... |
Task1_train_6476 | This variant affects gene GLB1 (galactosidase beta 1) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | GGCATAAAGATTAAATGAGTTACCACAGTGAAAACACCAATAATATGCTAAGCGTGCAAAACATGAAGGTACTGGAGTAAGACAAAGAAAAAAACTATCATTTACACATTGCTCTATAAAAGTGGCCAGAATATAGAAGGCATTGCAGCTACCAAGCAATCCAATGACACCATCCCAGAAACTGTCATTTTGTTTTTATTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCAGGAATGCAATGGCGCAATCTGGGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGCAATTCTCCTGCCTCA... | GGCATAAAGATTAAATGAGTTACCACAGTGAAAACACCAATAATATGCTAAGCGTGCAAAACATGAAGGTACTGGAGTAAGACAAAGAAAAAAACTATCATTTACACATTGCTCTATAAAAGTGGCCAGAATATAGAAGGCATTGCAGCTACCAAGCAATCCAATGACACCATCCCAGAAACTGTCATTTTGTTTTTATTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCAGGAATGCAATGGCGCAATCTGGGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGCAATTCTCCTGCCTCA... |
Task1_train_6477 | A genetic alteration is present in GLB1 (galactosidase beta 1) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; GM1 gangliosidosis | TGAAGGTACTGGAGTAAGACAAAGAAAAAAACTATCATTTACACATTGCTCTATAAAAGTGGCCAGAATATAGAAGGCATTGCAGCTACCAAGCAATCCAATGACACCATCCCAGAAACTGTCATTTTGTTTTTATTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCAGGAATGCAATGGCGCAATCTGGGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTTA... | TGAAGGTACTGGAGTAAGACAAAGAAAAAAACTATCATTTACACATTGCTCTATAAAAGTGGCCAGAATATAGAAGGCATTGCAGCTACCAAGCAATCCAATGACACCATCCCAGAAACTGTCATTTTGTTTTTATTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCAGGAATGCAATGGCGCAATCTGGGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTTA... |
Task1_train_6478 | Here is a genetic alteration in GLB1 (galactosidase beta 1) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | TGAAGGTACTGGAGTAAGACAAAGAAAAAAACTATCATTTACACATTGCTCTATAAAAGTGGCCAGAATATAGAAGGCATTGCAGCTACCAAGCAATCCAATGACACCATCCCAGAAACTGTCATTTTGTTTTTATTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCAGGAATGCAATGGCGCAATCTGGGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTTA... | TGAAGGTACTGGAGTAAGACAAAGAAAAAAACTATCATTTACACATTGCTCTATAAAAGTGGCCAGAATATAGAAGGCATTGCAGCTACCAAGCAATCCAATGACACCATCCCAGAAACTGTCATTTTGTTTTTATTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCAGGAATGCAATGGCGCAATCTGGGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTTA... |
Task1_train_6479 | An alteration has been detected in GLB1 (galactosidase beta 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Infantile GM1 gangliosidosis | TTACACATTGCTCTATAAAAGTGGCCAGAATATAGAAGGCATTGCAGCTACCAAGCAATCCAATGACACCATCCCAGAAACTGTCATTTTGTTTTTATTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCAGGAATGCAATGGCGCAATCTGGGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTTAGTAGAGACAGGGTTTCCTCATGTTGGTCAGGCTGGTCT... | TTACACATTGCTCTATAAAAGTGGCCAGAATATAGAAGGCATTGCAGCTACCAAGCAATCCAATGACACCATCCCAGAAACTGTCATTTTGTTTTTATTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCAGGAATGCAATGGCGCAATCTGGGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTTAGTAGAGACAGGGTTTCCTCATGTTGGTCAGGCTGGTCT... |
Task1_train_6480 | A variant affecting Chromosome 3, within the gene GLB1 (galactosidase beta 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | AGTGGCCAGAATATAGAAGGCATTGCAGCTACCAAGCAATCCAATGACACCATCCCAGAAACTGTCATTTTGTTTTTATTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCAGGAATGCAATGGCGCAATCTGGGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTTAGTAGAGACAGGGTTTCCTCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGT... | AGTGGCCAGAATATAGAAGGCATTGCAGCTACCAAGCAATCCAATGACACCATCCCAGAAACTGTCATTTTGTTTTTATTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCAGGAATGCAATGGCGCAATCTGGGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTTAGTAGAGACAGGGTTTCCTCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGT... |
Task1_train_6481 | This variant lies on Chromosome 3 and affects the gene GLB1 (galactosidase beta 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Infantile GM1 gangliosidosis | AATTCCTATTACATAAAAATTATAGCTGGGCACAGTAGCTCTCTTCTGTAATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTT... | AATTCCTATTACATAAAAATTATAGCTGGGCACAGTAGCTCTCTTCTGTAATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTT... |
Task1_train_6482 | The variant affects gene GLB1 (galactosidase beta 1), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Infantile GM1 gangliosidosis | AATTCCTATTACATAAAAATTATAGCTGGGCACAGTAGCTCTCTTCTGTAATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTT... | AATTCCTATTACATAAAAATTATAGCTGGGCACAGTAGCTCTCTTCTGTAATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTT... |
Task1_train_6483 | Given a variant located on Chromosome 3 and affecting GLB1 (galactosidase beta 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; GM1 gangliosidosis type 2 | AATTCCTATTACATAAAAATTATAGCTGGGCACAGTAGCTCTCTTCTGTAATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTT... | AATTCCTATTACATAAAAATTATAGCTGGGCACAGTAGCTCTCTTCTGTAATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTT... |
Task1_train_6484 | Located on Chromosome 3, this mutation impacts GLB1 (galactosidase beta 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; GM1 gangliosidosis type 3 | AATTCCTATTACATAAAAATTATAGCTGGGCACAGTAGCTCTCTTCTGTAATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTT... | AATTCCTATTACATAAAAATTATAGCTGGGCACAGTAGCTCTCTTCTGTAATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTT... |
Task1_train_6485 | An alteration has been detected in GLB1 (galactosidase beta 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | AATTCCTATTACATAAAAATTATAGCTGGGCACAGTAGCTCTCTTCTGTAATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTT... | AATTCCTATTACATAAAAATTATAGCTGGGCACAGTAGCTCTCTTCTGTAATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTT... |
Task1_train_6486 | This variant lies on Chromosome 3 and affects the gene GLB1 (galactosidase beta 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; GM1 gangliosidosis | AATTCCTATTACATAAAAATTATAGCTGGGCACAGTAGCTCTCTTCTGTAATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTT... | AATTCCTATTACATAAAAATTATAGCTGGGCACAGTAGCTCTCTTCTGTAATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTT... |
Task1_train_6487 | Gene GLB1 (galactosidase beta 1) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | AATTCCTATTACATAAAAATTATAGCTGGGCACAGTAGCTCTCTTCTGTAATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTT... | AATTCCTATTACATAAAAATTATAGCTGGGCACAGTAGCTCTCTTCTGTAATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTT... |
Task1_train_6488 | Given this context: Chromosome 3, gene GLB1 (galactosidase beta 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | ATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAAT... | ATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAAT... |
Task1_train_6489 | This mutation is located in gene GLB1 (galactosidase beta 1) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Infantile GM1 gangliosidosis | ATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAAT... | ATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAAT... |
Task1_train_6490 | Located on Chromosome 3, this mutation impacts GLB1 (galactosidase beta 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; GM1 gangliosidosis type 2 | ATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAAT... | ATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAAT... |
Task1_train_6491 | This variant lies on Chromosome 3 and affects the gene GLB1 (galactosidase beta 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; GM1 gangliosidosis type 3 | ATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAAT... | ATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAAT... |
Task1_train_6492 | Gene GLB1 (galactosidase beta 1), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | ATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAAT... | ATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAAT... |
Task1_train_6493 | A variant was discovered in gene GLB1 (galactosidase beta 1), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; GM1 gangliosidosis | ATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAAT... | ATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAAT... |
Task1_train_6494 | A change on Chromosome 3 affects gene GLB1 (galactosidase beta 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | ATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAAT... | ATCCCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAAT... |
Task1_train_6495 | Given this context: Chromosome 3, gene GLB1 (galactosidase beta 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; GM1 gangliosidosis | CCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAATAAG... | CCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAATAAG... |
Task1_train_6496 | This sequence variant lies in GLB1 (galactosidase beta 1) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | CCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAATAAG... | CCTGCACTCTGGGAGGCCAAAGCAGTAGGATCGCTTGAGTCCAGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAATAAG... |
Task1_train_6497 | This mutation is located in gene GLB1 (galactosidase beta 1) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | AGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAATAAGAATATTTTGCTGAAAAGTAGTAAGAGACATATTTATTTTTTG... | AGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAATAAGAATATTTTGCTGAAAAGTAGTAAGAGACATATTTATTTTTTG... |
Task1_train_6498 | An alteration has been detected in GLB1 (galactosidase beta 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; GM1 gangliosidosis | AGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAATAAGAATATTTTGCTGAAAAGTAGTAAGAGACATATTTATTTTTTG... | AGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAATAAGAATATTTTGCTGAAAAGTAGTAAGAGACATATTTATTTTTTG... |
Task1_train_6499 | Gene GLB1 (galactosidase beta 1) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | AGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAATAAGAATATTTTGCTGAAAAGTAGTAAGAGACATATTTATTTTTTG... | AGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAATAAGAATATTTTGCTGAAAAGTAGTAAGAGACATATTTATTTTTTG... |
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