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_8100 | Here is a variant affecting IDUA, SLC26A1 (alpha-L-iduronidase| solute carrier family 26 member 1) on Chromosome 4. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hypersulfaturia | TGTTGGGGAGAGCGTGTCCTTGCTGGCTGTGCTGGGGTGAGGGCTGTGTGCTGGAGGGAGCCCCTGCATGGGGCACGGTGGGCTTCCTGCAGGTCTCCCTGCAGGCTCAGGGTTGGCTGCGCCGCACCTGGCTCCTGGTGCACCCGTGAGCATCCCTGTGTGTGTCTGCTGGCCAGGCTGGGTAGGGCCACTGCACCTGAGGGCTGAGCTGAGGTCTCATCGGTCACAGCACCCTGGGCCCTGACGCTGGTGCAGGTGGCCACCCTGTGAGGGGGAGGCACGAGGTGTGAGGGGCACTTGGGTGTGTGGGGCCTTCTGGA... | TGTTGGGGAGAGCGTGTCCTTGCTGGCTGTGCTGGGGTGAGGGCTGTGTGCTGGAGGGAGCCCCTGCATGGGGCACGGTGGGCTTCCTGCAGGTCTCCCTGCAGGCTCAGGGTTGGCTGCGCCGCACCTGGCTCCTGGTGCACCCGTGAGCATCCCTGTGTGTGTCTGCTGGCCAGGCTGGGTAGGGCCACTGCACCTGAGGGCTGAGCTGAGGTCTCATCGGTCACAGCACCCTGGGCCCTGACGCTGGTGCAGGTGGCCACCCTGTGAGGGGGAGGCACGAGGTGTGAGGGGCACTTGGGTGTGTGGGGCCTTCTGGA... |
Task1_train_8101 | Located on Chromosome 4, this mutation impacts IDUA, SLC26A1 (alpha-L-iduronidase| solute carrier family 26 member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Nephrolithiasis, calcium oxalate | TGTTGGGGAGAGCGTGTCCTTGCTGGCTGTGCTGGGGTGAGGGCTGTGTGCTGGAGGGAGCCCCTGCATGGGGCACGGTGGGCTTCCTGCAGGTCTCCCTGCAGGCTCAGGGTTGGCTGCGCCGCACCTGGCTCCTGGTGCACCCGTGAGCATCCCTGTGTGTGTCTGCTGGCCAGGCTGGGTAGGGCCACTGCACCTGAGGGCTGAGCTGAGGTCTCATCGGTCACAGCACCCTGGGCCCTGACGCTGGTGCAGGTGGCCACCCTGTGAGGGGGAGGCACGAGGTGTGAGGGGCACTTGGGTGTGTGGGGCCTTCTGGA... | TGTTGGGGAGAGCGTGTCCTTGCTGGCTGTGCTGGGGTGAGGGCTGTGTGCTGGAGGGAGCCCCTGCATGGGGCACGGTGGGCTTCCTGCAGGTCTCCCTGCAGGCTCAGGGTTGGCTGCGCCGCACCTGGCTCCTGGTGCACCCGTGAGCATCCCTGTGTGTGTCTGCTGGCCAGGCTGGGTAGGGCCACTGCACCTGAGGGCTGAGCTGAGGTCTCATCGGTCACAGCACCCTGGGCCCTGACGCTGGTGCAGGTGGCCACCCTGTGAGGGGGAGGCACGAGGTGTGAGGGGCACTTGGGTGTGTGGGGCCTTCTGGA... |
Task1_train_8102 | This alteration occurs within gene IDUA (alpha-L-iduronidase) located on Chromosome 4. Is it associated with a disease or is it a benign variant? | Pathogenic; Mucopolysaccharidosis, MPS-I-S | ATGTCTTCCTGCTGGCTGGTCCCGTTGCATGGTAGCCTTAGGTGTCTCCTCAGAGAGGTCCCTCGCTGACCATCAGGCTCCTCACTCCCTGTCGTATCCCCTTCACCAAAGATTCCCATTCCCTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCATCCGCAAGTGCAGTGGCAGGGCGGCCCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATG... | ATGTCTTCCTGCTGGCTGGTCCCGTTGCATGGTAGCCTTAGGTGTCTCCTCAGAGAGGTCCCTCGCTGACCATCAGGCTCCTCACTCCCTGTCGTATCCCCTTCACCAAAGATTCCCATTCCCTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCATCCGCAAGTGCAGTGGCAGGGCGGCCCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATG... |
Task1_train_8103 | The gene IDUA (alpha-L-iduronidase) on Chromosome 4 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hurler syndrome | ATGTCTTCCTGCTGGCTGGTCCCGTTGCATGGTAGCCTTAGGTGTCTCCTCAGAGAGGTCCCTCGCTGACCATCAGGCTCCTCACTCCCTGTCGTATCCCCTTCACCAAAGATTCCCATTCCCTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCATCCGCAAGTGCAGTGGCAGGGCGGCCCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATG... | ATGTCTTCCTGCTGGCTGGTCCCGTTGCATGGTAGCCTTAGGTGTCTCCTCAGAGAGGTCCCTCGCTGACCATCAGGCTCCTCACTCCCTGTCGTATCCCCTTCACCAAAGATTCCCATTCCCTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCATCCGCAAGTGCAGTGGCAGGGCGGCCCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATG... |
Task1_train_8104 | A genomic change on Chromosome 4 affects IDUA (alpha-L-iduronidase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Mucopolysaccharidosis, MPS-I-H/S | ATGTCTTCCTGCTGGCTGGTCCCGTTGCATGGTAGCCTTAGGTGTCTCCTCAGAGAGGTCCCTCGCTGACCATCAGGCTCCTCACTCCCTGTCGTATCCCCTTCACCAAAGATTCCCATTCCCTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCATCCGCAAGTGCAGTGGCAGGGCGGCCCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATG... | ATGTCTTCCTGCTGGCTGGTCCCGTTGCATGGTAGCCTTAGGTGTCTCCTCAGAGAGGTCCCTCGCTGACCATCAGGCTCCTCACTCCCTGTCGTATCCCCTTCACCAAAGATTCCCATTCCCTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCATCCGCAAGTGCAGTGGCAGGGCGGCCCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATG... |
Task1_train_8105 | This gene mutation involves IDUA (alpha-L-iduronidase) on Chromosome 4. Is it associated with any clinical condition, or is it benign? | Pathogenic; Mucopolysaccharidosis type 1 | ATGTCTTCCTGCTGGCTGGTCCCGTTGCATGGTAGCCTTAGGTGTCTCCTCAGAGAGGTCCCTCGCTGACCATCAGGCTCCTCACTCCCTGTCGTATCCCCTTCACCAAAGATTCCCATTCCCTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCATCCGCAAGTGCAGTGGCAGGGCGGCCCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATG... | ATGTCTTCCTGCTGGCTGGTCCCGTTGCATGGTAGCCTTAGGTGTCTCCTCAGAGAGGTCCCTCGCTGACCATCAGGCTCCTCACTCCCTGTCGTATCCCCTTCACCAAAGATTCCCATTCCCTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCATCCGCAAGTGCAGTGGCAGGGCGGCCCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATG... |
Task1_train_8106 | This variant affects the gene IDUA (alpha-L-iduronidase) found on Chromosome 4. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Mucopolysaccharidosis type 1 | GGGCGGCCCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTC... | GGGCGGCCCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTC... |
Task1_train_8107 | This variant lies on Chromosome 4 and affects the gene IDUA (alpha-L-iduronidase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Mucopolysaccharidosis type 1 | CCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCA... | CCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCA... |
Task1_train_8108 | A mutation in IDUA (alpha-L-iduronidase), located on Chromosome 4, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Mucopolysaccharidosis type 1 | GGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTG... | GGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTG... |
Task1_train_8109 | A variant on Chromosome 4 in gene IDUA (alpha-L-iduronidase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Mucopolysaccharidosis, MPS-I-S | GGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTG... | GGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTG... |
Task1_train_8110 | Located on Chromosome 4, this mutation impacts IDUA (alpha-L-iduronidase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hurler syndrome | GGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTG... | GGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTG... |
Task1_train_8111 | This alteration in IDUA (alpha-L-iduronidase) on Chromosome 4 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Mucopolysaccharidosis, MPS-I-H/S | GGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTG... | GGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTG... |
Task1_train_8112 | A variant has been detected on Chromosome 4 in IDUA (alpha-L-iduronidase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hurler syndrome | GGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTG... | GGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTG... |
Task1_train_8113 | This variant impacts the gene IDUA (alpha-L-iduronidase) on Chromosome 4. Is the change likely to result in a pathogenic outcome? | Pathogenic; Mucopolysaccharidosis type 1 | CGTGGGAATTCAGCCCCATCGGCAAGTGCAGTGGCAGGGCGGCCCCCTTCACCCTTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCATGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGTGGCCCCCTTCTCCCTTTCCTGTGCACTCATGTTGCCTCTTGGGGTGTGGGAGGGGAAATGGGGCACTCCTGGGCCTCCAGGAGGTGCAGAGAACCAGGGTGAGGTGTCCACCAGGTCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCG... | CGTGGGAATTCAGCCCCATCGGCAAGTGCAGTGGCAGGGCGGCCCCCTTCACCCTTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCATGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGTGGCCCCCTTCTCCCTTTCCTGTGCACTCATGTTGCCTCTTGGGGTGTGGGAGGGGAAATGGGGCACTCCTGGGCCTCCAGGAGGTGCAGAGAACCAGGGTGAGGTGTCCACCAGGTCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCG... |
Task1_train_8114 | A change on Chromosome 4 affects gene IDUA (alpha-L-iduronidase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hurler syndrome | TCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCT... | TCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCT... |
Task1_train_8115 | This is a variant in IDUA (alpha-L-iduronidase), located on Chromosome 4. Is this mutation a likely cause of disease or not? | Pathogenic; Mucopolysaccharidosis type 1 | TCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCT... | TCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCT... |
Task1_train_8116 | The variant affects gene IDUA (alpha-L-iduronidase), which is on Chromosome 4. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Mucopolysaccharidosis, MPS-I-S | TCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCT... | TCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCT... |
Task1_train_8117 | A genomic change on Chromosome 4 affects IDUA (alpha-L-iduronidase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hurler syndrome | TCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCT... | TCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCT... |
Task1_train_8118 | A variant affecting Chromosome 4, within the gene IDUA (alpha-L-iduronidase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Mucopolysaccharidosis, MPS-I-H/S | TCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCT... | TCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCT... |
Task1_train_8119 | This variant impacts the gene IDUA (alpha-L-iduronidase) on Chromosome 4. Is the change likely to result in a pathogenic outcome? | Pathogenic; Mucopolysaccharidosis type 1 | GCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACG... | GCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACG... |
Task1_train_8120 | This genomic variant is located on Chromosome 4, within the IDUA (alpha-L-iduronidase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Mucopolysaccharidosis, MPS-I-S | GCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACG... | GCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACG... |
Task1_train_8121 | Given this context: Chromosome 4, gene IDUA (alpha-L-iduronidase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hurler syndrome | GCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACG... | GCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACG... |
Task1_train_8122 | A mutation in IDUA (alpha-L-iduronidase), located on Chromosome 4, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Mucopolysaccharidosis, MPS-I-H/S | GCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACG... | GCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACG... |
Task1_train_8123 | With a mutation on Chromosome 4 in gene IDUA (alpha-L-iduronidase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hurler syndrome | TGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACGGGTAC... | TGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACGGGTAC... |
Task1_train_8124 | With a mutation on Chromosome 4 in gene IDUA (alpha-L-iduronidase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Mucopolysaccharidosis type 1 | CTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACGGGTACCTGGACCTTCTCAGGGAGAACCAGCTCCTCCCAGGTGAGCTGT... | CTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACGGGTACCTGGACCTTCTCAGGGAGAACCAGCTCCTCCCAGGTGAGCTGT... |
Task1_train_8125 | This mutation occurs in IDUA (alpha-L-iduronidase) on Chromosome 4. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hurler syndrome | CTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACGGGTACCTGGACCTTCTCAGGGAGAACCAGCTCCTCCCAGGTGAGCTGT... | CTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACGGGTACCTGGACCTTCTCAGGGAGAACCAGCTCCTCCCAGGTGAGCTGT... |
Task1_train_8126 | Here is a variant affecting IDUA (alpha-L-iduronidase) on Chromosome 4. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hurler syndrome | CTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACGGGTACCTGGACCTTCTCAGGGAGAACCAGCTCCTCCCAGGTGAGCTGT... | CTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACGGGTACCTGGACCTTCTCAGGGAGAACCAGCTCCTCCCAGGTGAGCTGT... |
Task1_train_8127 | This is a variant in IDUA (alpha-L-iduronidase), located on Chromosome 4. Is this mutation a likely cause of disease or not? | Pathogenic; Mucopolysaccharidosis, MPS-I-H/S | CTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACGGGTACCTGGACCTTCTCAGGGAGAACCAGCTCCTCCCAGGTGAGCTGT... | CTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACGGGTACCTGGACCTTCTCAGGGAGAACCAGCTCCTCCCAGGTGAGCTGT... |
Task1_train_8128 | This sequence variant lies in IDUA (alpha-L-iduronidase) on Chromosome 4. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Mucopolysaccharidosis, MPS-I-S | CTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACGGGTACCTGGACCTTCTCAGGGAGAACCAGCTCCTCCCAGGTGAGCTGT... | CTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACGGGTACCTGGACCTTCTCAGGGAGAACCAGCTCCTCCCAGGTGAGCTGT... |
Task1_train_8129 | The gene IDUA (alpha-L-iduronidase), on Chromosome 4, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Mucopolysaccharidosis type 1 | TTGAGTCAGACGCCCTTCATCACCTTGCACCCTCCCTCCGTGGGAGTCACTGAGGCGAGATTCACCTGTGCTGGGGGGACAGCAAGGCTCCTCTGCAGGTAGGTACGGACTGGCGCATGTTTCCAAGTGGAACTTCGAGACGTGGAATGAGCCAGACCACCACGACTTTGACAACGTCTCCATGACCATGCAAGGTGTGCACCGCTTCCTGGGGTCCTGCCCGGCTGAAAGGGGGCAGAGGAAGGCAGGAGCAGAGGCTAAGCCGCTCATCCCCAGGGCAGGTGTAGACGCAGTGCTCCCCCGGCCCAGGCTTCCTGAAC... | TTGAGTCAGACGCCCTTCATCACCTTGCACCCTCCCTCCGTGGGAGTCACTGAGGCGAGATTCACCTGTGCTGGGGGGACAGCAAGGCTCCTCTGCAGGTAGGTACGGACTGGCGCATGTTTCCAAGTGGAACTTCGAGACGTGGAATGAGCCAGACCACCACGACTTTGACAACGTCTCCATGACCATGCAAGGTGTGCACCGCTTCCTGGGGTCCTGCCCGGCTGAAAGGGGGCAGAGGAAGGCAGGAGCAGAGGCTAAGCCGCTCATCCCCAGGGCAGGTGTAGACGCAGTGCTCCCCCGGCCCAGGCTTCCTGAAC... |
Task1_train_8130 | This is a variant in IDUA (alpha-L-iduronidase), located on Chromosome 4. Is this mutation a likely cause of disease or not? | Pathogenic; Mucopolysaccharidosis type 1 | CGGTCCCAGCTGCCCTGGACACCCGCAGGTCATCGCGCAGCATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCCCGCTGC... | CGGTCCCAGCTGCCCTGGACACCCGCAGGTCATCGCGCAGCATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCCCGCTGC... |
Task1_train_8131 | A sequence alteration has been identified in IDUA (alpha-L-iduronidase) on Chromosome 4. Is it disease-inducing or harmless? | Pathogenic; Mucopolysaccharidosis type 1 | CATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCCCGCTGCGGGGAGCGCACTTCCTCCAGCCGCGCGCTTCCCGGGGTCG... | CATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCCCGCTGCGGGGAGCGCACTTCCTCCAGCCGCGCGCTTCCCGGGGTCG... |
Task1_train_8132 | Chromosome 4 houses a mutation in gene IDUA (alpha-L-iduronidase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Mucopolysaccharidosis, MPS-I-H/S | CATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCCCGCTGCGGGGAGCGCACTTCCTCCAGCCGCGCGCTTCCCGGGGTCG... | CATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCCCGCTGCGGGGAGCGCACTTCCTCCAGCCGCGCGCTTCCCGGGGTCG... |
Task1_train_8133 | A variant has been detected on Chromosome 4 in IDUA (alpha-L-iduronidase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hurler syndrome | CATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCCCGCTGCGGGGAGCGCACTTCCTCCAGCCGCGCGCTTCCCGGGGTCG... | CATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCCCGCTGCGGGGAGCGCACTTCCTCCAGCCGCGCGCTTCCCGGGGTCG... |
Task1_train_8134 | The gene IDUA (alpha-L-iduronidase), on Chromosome 4, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hurler syndrome | CATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCCCGCTGCGGGGAGCGCACTTCCTCCAGCCGCGCGCTTCCCGGGGTCG... | CATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCCCGCTGCGGGGAGCGCACTTCCTCCAGCCGCGCGCTTCCCGGGGTCG... |
Task1_train_8135 | The gene IDUA (alpha-L-iduronidase) is located on Chromosome 4, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Mucopolysaccharidosis, MPS-I-H/S | CATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCCCGCTGCGGGGAGCGCACTTCCTCCAGCCGCGCGCTTCCCGGGGTCG... | CATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCCCGCTGCGGGGAGCGCACTTCCTCCAGCCGCGCGCTTCCCGGGGTCG... |
Task1_train_8136 | The gene IDUA (alpha-L-iduronidase) on Chromosome 4 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Mucopolysaccharidosis, MPS-I-S | CATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCCCGCTGCGGGGAGCGCACTTCCTCCAGCCGCGCGCTTCCCGGGGTCG... | CATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCCCGCTGCGGGGAGCGCACTTCCTCCAGCCGCGCGCTTCCCGGGGTCG... |
Task1_train_8137 | Here is a genetic alteration in CTBP1, CTBP1-AS (C-terminal binding protein 1| CTBP1 antisense RNA) on Chromosome 4. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Inborn genetic diseases | TTTTTGCCCATTTCCGTAGGCTGGCTGACCCATGGTCTGGGGAGCTTCCTCAGCCCTGACATCTGCTTTCCTTCCTCCTGTGGCCCACAGTCTTCCCAGGTTGCAGGCCGGCCTGCAGGAGCTATGCCAAGAAGGGAGGGGTGGGCAGTGGGGCAGGACCTCAGCCAGTCACACCATCATCCACACAACGGCCCGGCTGGCACACTGCTTCCCTCCCACTGGGGCACTGCGGGCAGGCCGCCTCCAAGCCAGGACCCTACAGCGTCCCACAGACCCAGTGGGCAGAGGGACAGGCCCGGTACACACAGAGACCACTGCCC... | TTTTTGCCCATTTCCGTAGGCTGGCTGACCCATGGTCTGGGGAGCTTCCTCAGCCCTGACATCTGCTTTCCTTCCTCCTGTGGCCCACAGTCTTCCCAGGTTGCAGGCCGGCCTGCAGGAGCTATGCCAAGAAGGGAGGGGTGGGCAGTGGGGCAGGACCTCAGCCAGTCACACCATCATCCACACAACGGCCCGGCTGGCACACTGCTTCCCTCCCACTGGGGCACTGCGGGCAGGCCGCCTCCAAGCCAGGACCCTACAGCGTCCCACAGACCCAGTGGGCAGAGGGACAGGCCCGGTACACACAGAGACCACTGCCC... |
Task1_train_8138 | A variant on Chromosome 4 in gene CTBP1, CTBP1-AS (C-terminal binding protein 1| CTBP1 antisense RNA) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | TTTTTGCCCATTTCCGTAGGCTGGCTGACCCATGGTCTGGGGAGCTTCCTCAGCCCTGACATCTGCTTTCCTTCCTCCTGTGGCCCACAGTCTTCCCAGGTTGCAGGCCGGCCTGCAGGAGCTATGCCAAGAAGGGAGGGGTGGGCAGTGGGGCAGGACCTCAGCCAGTCACACCATCATCCACACAACGGCCCGGCTGGCACACTGCTTCCCTCCCACTGGGGCACTGCGGGCAGGCCGCCTCCAAGCCAGGACCCTACAGCGTCCCACAGACCCAGTGGGCAGAGGGACAGGCCCGGTACACACAGAGACCACTGCCC... | TTTTTGCCCATTTCCGTAGGCTGGCTGACCCATGGTCTGGGGAGCTTCCTCAGCCCTGACATCTGCTTTCCTTCCTCCTGTGGCCCACAGTCTTCCCAGGTTGCAGGCCGGCCTGCAGGAGCTATGCCAAGAAGGGAGGGGTGGGCAGTGGGGCAGGACCTCAGCCAGTCACACCATCATCCACACAACGGCCCGGCTGGCACACTGCTTCCCTCCCACTGGGGCACTGCGGGCAGGCCGCCTCCAAGCCAGGACCCTACAGCGTCCCACAGACCCAGTGGGCAGAGGGACAGGCCCGGTACACACAGAGACCACTGCCC... |
Task1_train_8139 | A variant was discovered on Chromosome 4, affecting UVSSA (UV stimulated scaffold protein A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; UV-sensitive syndrome 3 | TCTTCTTTTCCTTTTTAAAATAATTGCTTTACTGAGATATAACTCACACATCCTGAAACCCACCCTGTAAAAACACGATTAACAGAGTTGTGAGCTACCACCACCGTAATGCAAGGGCACGCCCATCCCCCCGAAAAAGAAACCCCGGCCCGCCGCCGGCGGCCCCCGCCCTGCACCCAGCCCCGGGAGCCCAGTCGGGCGTCTGCTCTGCGTGGCCTGTGCCGGGCGCCCCGCGAGTGGGGTCCACACCACGCTCCTCCGAAGCCACGGTTTCCCAAGCGCGGTCTCCAGGTCCGTCCGTCCGCAGCCGACCTCGCACT... | TCTTCTTTTCCTTTTTAAAATAATTGCTTTACTGAGATATAACTCACACATCCTGAAACCCACCCTGTAAAAACACGATTAACAGAGTTGTGAGCTACCACCACCGTAATGCAAGGGCACGCCCATCCCCCCGAAAAAGAAACCCCGGCCCGCCGCCGGCGGCCCCCGCCCTGCACCCAGCCCCGGGAGCCCAGTCGGGCGTCTGCTCTGCGTGGCCTGTGCCGGGCGCCCCGCGAGTGGGGTCCACACCACGCTCCTCCGAAGCCACGGTTTCCCAAGCGCGGTCTCCAGGTCCGTCCGTCCGCAGCCGACCTCGCACT... |
Task1_train_8140 | Chromosome 4 houses a mutation in gene FGFR3 (fibroblast growth factor receptor 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Epidermal nevus | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8141 | This is a variant in FGFR3 (fibroblast growth factor receptor 3), located on Chromosome 4. Is this mutation a likely cause of disease or not? | Pathogenic; Thanatophoric dysplasia, type 2 | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8142 | A change on Chromosome 4 affects gene FGFR3 (fibroblast growth factor receptor 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Thanatophoric dysplasia type 1 | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8143 | This is a variant in FGFR3 (fibroblast growth factor receptor 3), located on Chromosome 4. Is this mutation a likely cause of disease or not? | Pathogenic; Achondroplasia | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8144 | A variant on Chromosome 4 in gene FGFR3 (fibroblast growth factor receptor 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hamartoma | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8145 | This is a variant in FGFR3 (fibroblast growth factor receptor 3), located on Chromosome 4. Is this mutation a likely cause of disease or not? | Pathogenic; Femoral bowing | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8146 | Mutation context: Chromosome 4, Gene FGFR3 (fibroblast growth factor receptor 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Small for gestational age | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8147 | Consider a variant on Chromosome 4 in gene FGFR3 (fibroblast growth factor receptor 3). Determine its clinical classification and disease relevance. | Pathogenic; Bell-shaped thorax | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8148 | An alteration has been detected in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Short ribs | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8149 | This sequence variant lies in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Narrow chest | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8150 | The gene FGFR3 (fibroblast growth factor receptor 3), on Chromosome 4, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Lower limb undergrowth | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8151 | This variant affects gene FGFR3 (fibroblast growth factor receptor 3) located on Chromosome 4. Evaluate its biological effect and specify any disease association. | Pathogenic; Bowed humerus | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8152 | A mutation found in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Short stature | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8153 | A genetic alteration is present in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Disproportionate short-limb short stature | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8154 | A sequence alteration has been identified in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is it disease-inducing or harmless? | Pathogenic; Growth delay | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8155 | The gene FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Upper limb undergrowth | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8156 | This variant impacts the gene FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is the change likely to result in a pathogenic outcome? | Pathogenic; Lethal short-limbed short stature | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8157 | Gene FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Skeletal dysplasia | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8158 | This mutation occurs in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cervical cancer | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8159 | With a mutation on Chromosome 4 in gene FGFR3 (fibroblast growth factor receptor 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; See cases | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8160 | The following genetic variant occurs in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Lacrimoauriculodentodigital syndrome 2 | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8161 | Here is a mutation in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Colorectal cancer | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8162 | Consider this mutation in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is this a benign change or a disease-causing variant? | Pathogenic; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8163 | A variant found in Chromosome 4 affects FGFR3 (fibroblast growth factor receptor 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Malignant tumor of urinary bladder | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8164 | The gene FGFR3 (fibroblast growth factor receptor 3) is located on Chromosome 4, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Thanatophoric dysplasia type 1 | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8165 | A mutation in FGFR3 (fibroblast growth factor receptor 3), located on Chromosome 4, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Crouzon syndrome-acanthosis nigricans syndrome | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8166 | Assess the clinical impact of this variant on gene FGFR3 (fibroblast growth factor receptor 3), found on Chromosome 4. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Achondroplasia | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8167 | Given this variant in gene FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Thanatophoric dysplasia, type 2 | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8168 | Given a variant located on Chromosome 4 and affecting FGFR3 (fibroblast growth factor receptor 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Camptodactyly-tall stature-scoliosis-hearing loss syndrome | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8169 | The gene FGFR3 (fibroblast growth factor receptor 3), on Chromosome 4, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Germ cell tumor of testis | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8170 | This genomic variant is located on Chromosome 4, within the FGFR3 (fibroblast growth factor receptor 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hypochondroplasia | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8171 | A variant on Chromosome 4 in gene FGFR3 (fibroblast growth factor receptor 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Epidermal nevus | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8172 | Mutation context: Chromosome 4, Gene FGFR3 (fibroblast growth factor receptor 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Muenke syndrome | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8173 | A change on Chromosome 4 affects gene FGFR3 (fibroblast growth factor receptor 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cervical cancer | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8174 | This alteration occurs within gene FGFR3 (fibroblast growth factor receptor 3) located on Chromosome 4. Is it associated with a disease or is it a benign variant? | Pathogenic; Thanatophoric dysplasia type 1 | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8175 | This sequence variant lies in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Thanatophoric dysplasia, type 2 | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8176 | Gene FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8177 | A sequence alteration has been identified in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is it disease-inducing or harmless? | Pathogenic; Malignant tumor of urinary bladder | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8178 | Located on Chromosome 4, this mutation impacts FGFR3 (fibroblast growth factor receptor 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Thanatophoric dysplasia type 1 | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8179 | Assess the clinical impact of this variant on gene FGFR3 (fibroblast growth factor receptor 3), found on Chromosome 4. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Levy-Hollister syndrome | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8180 | Located on Chromosome 4, this mutation impacts FGFR3 (fibroblast growth factor receptor 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Crouzon syndrome-acanthosis nigricans syndrome | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8181 | The variant affects gene FGFR3 (fibroblast growth factor receptor 3), which is on Chromosome 4. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Achondroplasia | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8182 | A variant was discovered on Chromosome 4, affecting FGFR3 (fibroblast growth factor receptor 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Thanatophoric dysplasia, type 2 | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8183 | The gene FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Camptodactyly-tall stature-scoliosis-hearing loss syndrome | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8184 | The variant affects gene FGFR3 (fibroblast growth factor receptor 3), which is on Chromosome 4. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Carcinoma of colon | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8185 | This genomic variant is located on Chromosome 4, within the FGFR3 (fibroblast growth factor receptor 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hypochondroplasia | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8186 | Located on Chromosome 4, this mutation impacts FGFR3 (fibroblast growth factor receptor 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Malignant tumor of testis | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8187 | Given this variant in gene FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Epidermal nevus | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8188 | With a mutation on Chromosome 4 in gene FGFR3 (fibroblast growth factor receptor 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Muenke syndrome | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8189 | A variant on Chromosome 4 in gene FGFR3 (fibroblast growth factor receptor 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Cervical cancer | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8190 | Given this context: Chromosome 4, gene FGFR3 (fibroblast growth factor receptor 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; FGFR3-related chondrodysplasia | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8191 | Here is a mutation in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; FGFR3-related disorder | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8192 | Consider a variant on Chromosome 4 in gene FGFR3 (fibroblast growth factor receptor 3). Determine its clinical classification and disease relevance. | Pathogenic; Connective tissue disorder | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8193 | An alteration has been detected in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Muenke syndrome | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... | CTGAGGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGC... |
Task1_train_8194 | Gene FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Malignant tumor of urinary bladder | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8195 | Assess the clinical impact of this variant on gene FGFR3 (fibroblast growth factor receptor 3), found on Chromosome 4. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Levy-Hollister syndrome | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8196 | Gene FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Crouzon syndrome-acanthosis nigricans syndrome | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8197 | The following genetic variant occurs in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cervical cancer | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8198 | Gene FGFR3 (fibroblast growth factor receptor 3), found on Chromosome 4, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Camptodactyly-tall stature-scoliosis-hearing loss syndrome | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8199 | A variant on Chromosome 4 in gene FGFR3 (fibroblast growth factor receptor 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Carcinoma of colon | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
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