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_8300 | Here’s a variant in FGFR3 (fibroblast growth factor receptor 3) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Neurodevelopmental delay | TTTTCCTTGCAGCGGCTGGATCCTGCCGTGTGGACTCTGTGCGGTGCCCGCAGGGCGGTGCTGGCGCTCGCCTATCGCTCTGCTCTCTCTTTGTAGACGGCGGGCGCTAACACCACCGACAAGGAGCTAGAGGTTCTCTCCTTGCACAACGTCACCTTTGAGGACGCCGGGGAGTACACCTGCCTGGCGGGCAATTCTATTGGGTTTTCTCATCACTCTGCGTGGCTGGTGGTGCTGCCAGGTACCGGCTTCTGCTGCTGCTGCTGCTCCGCACTGTCTGGGGGACGCTGGCTCGGGACACGCCAAAGCTGCCAGGACGG... | TTTTCCTTGCAGCGGCTGGATCCTGCCGTGTGGACTCTGTGCGGTGCCCGCAGGGCGGTGCTGGCGCTCGCCTATCGCTCTGCTCTCTCTTTGTAGACGGCGGGCGCTAACACCACCGACAAGGAGCTAGAGGTTCTCTCCTTGCACAACGTCACCTTTGAGGACGCCGGGGAGTACACCTGCCTGGCGGGCAATTCTATTGGGTTTTCTCATCACTCTGCGTGGCTGGTGGTGCTGCCAGGTACCGGCTTCTGCTGCTGCTGCTGCTCCGCACTGTCTGGGGGACGCTGGCTCGGGACACGCCAAAGCTGCCAGGACGG... |
Task1_train_8301 | 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; Camptodactyly-tall stature-scoliosis-hearing loss syndrome | GGATCCTGCCGTGTGGACTCTGTGCGGTGCCCGCAGGGCGGTGCTGGCGCTCGCCTATCGCTCTGCTCTCTCTTTGTAGACGGCGGGCGCTAACACCACCGACAAGGAGCTAGAGGTTCTCTCCTTGCACAACGTCACCTTTGAGGACGCCGGGGAGTACACCTGCCTGGCGGGCAATTCTATTGGGTTTTCTCATCACTCTGCGTGGCTGGTGGTGCTGCCAGGTACCGGCTTCTGCTGCTGCTGCTGCTCCGCACTGTCTGGGGGACGCTGGCTCGGGACACGCCAAAGCTGCCAGGACGGACGGGAATCCTGTGACT... | GGATCCTGCCGTGTGGACTCTGTGCGGTGCCCGCAGGGCGGTGCTGGCGCTCGCCTATCGCTCTGCTCTCTCTTTGTAGACGGCGGGCGCTAACACCACCGACAAGGAGCTAGAGGTTCTCTCCTTGCACAACGTCACCTTTGAGGACGCCGGGGAGTACACCTGCCTGGCGGGCAATTCTATTGGGTTTTCTCATCACTCTGCGTGGCTGGTGGTGCTGCCAGGTACCGGCTTCTGCTGCTGCTGCTGCTCCGCACTGTCTGGGGGACGCTGGCTCGGGACACGCCAAAGCTGCCAGGACGGACGGGAATCCTGTGACT... |
Task1_train_8302 | 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; not provided | CTCAGCCCCCTCGAGCCCACTTCCCATCTGGGTCCCCAAAGGCCTCTCCTGTGGCTCTGGTGTCTCCCGGGCGCCTGGTGGCGGTGTGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGG... | CTCAGCCCCCTCGAGCCCACTTCCCATCTGGGTCCCCAAAGGCCTCTCCTGTGGCTCTGGTGTCTCCCGGGCGCCTGGTGGCGGTGTGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGG... |
Task1_train_8303 | Here is a variant affecting FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | TTCCCATCTGGGTCCCCAAAGGCCTCTCCTGTGGCTCTGGTGTCTCCCGGGCGCCTGGTGGCGGTGTGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGT... | TTCCCATCTGGGTCCCCAAAGGCCTCTCCTGTGGCTCTGGTGTCTCCCGGGCGCCTGGTGGCGGTGTGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGT... |
Task1_train_8304 | This variant affects gene FGFR3 (fibroblast growth factor receptor 3) located on Chromosome 4. Evaluate its biological effect and specify any disease association. | Pathogenic; Hypochondroplasia | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... |
Task1_train_8305 | This variant lies on Chromosome 4 and affects the gene FGFR3 (fibroblast growth factor receptor 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Thanatophoric dysplasia type 1 | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... |
Task1_train_8306 | This alteration in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Thanatophoric dysplasia, type 2 | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... |
Task1_train_8307 | 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; Epidermal nevus | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... |
Task1_train_8308 | 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 | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... |
Task1_train_8309 | 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; Thanatophoric dysplasia, type 2 | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... |
Task1_train_8310 | Consider a variant on Chromosome 4 in gene FGFR3 (fibroblast growth factor receptor 3). Determine its clinical classification and disease relevance. | Pathogenic; Camptodactyly-tall stature-scoliosis-hearing loss syndrome | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... |
Task1_train_8311 | Here is a variant affecting FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Achondroplasia | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... |
Task1_train_8312 | 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; Lacrimoauriculodentodigital syndrome 2 | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... |
Task1_train_8313 | A variant has been detected on Chromosome 4 in FGFR3 (fibroblast growth factor receptor 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Colorectal cancer | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... |
Task1_train_8314 | 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; Muenke syndrome | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... |
Task1_train_8315 | This mutation is located in gene FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Germ cell tumor of testis | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... |
Task1_train_8316 | 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; Hypochondroplasia | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... |
Task1_train_8317 | A variant has been detected on Chromosome 4 in FGFR3 (fibroblast growth factor receptor 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Malignant tumor of urinary bladder | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... |
Task1_train_8318 | 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; Crouzon syndrome-acanthosis nigricans syndrome | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... |
Task1_train_8319 | 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; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... |
Task1_train_8320 | 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; Cervical cancer | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... |
Task1_train_8321 | 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; Thanatophoric dysplasia | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... | TGGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTG... |
Task1_train_8322 | 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; FGFR3-related disorder | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8323 | 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; Thanatophoric dysplasia type 1 | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8324 | Here is a genetic alteration in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Thanatophoric dysplasia, type 2 | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8325 | A sequence alteration has been identified in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is it disease-inducing or harmless? | Pathogenic; Cervical cancer | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8326 | 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; Crouzon syndrome-acanthosis nigricans syndrome | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8327 | 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; Levy-Hollister syndrome | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8328 | 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; Malignant tumor of urinary bladder | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8329 | This variant affects the gene FGFR3 (fibroblast growth factor receptor 3) found on Chromosome 4. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Epidermal nevus | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8330 | 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 | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8331 | Here is a variant affecting FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Muenke syndrome | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8332 | 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; Malignant tumor of testis | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8333 | This variant affects the gene FGFR3 (fibroblast growth factor receptor 3) found on Chromosome 4. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8334 | This variant lies on Chromosome 4 and affects the gene FGFR3 (fibroblast growth factor receptor 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Achondroplasia | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8335 | 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; Hypochondroplasia | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8336 | This gene mutation involves FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is it associated with any clinical condition, or is it benign? | Pathogenic; Camptodactyly-tall stature-scoliosis-hearing loss syndrome | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8337 | 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; FGFR3-related chondrodysplasia | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8338 | 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; Hypochondroplasia | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8339 | 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; Hypochondroplasia | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8340 | This gene mutation involves FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is it associated with any clinical condition, or is it benign? | Pathogenic; Crouzon syndrome-acanthosis nigricans syndrome | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8341 | 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; Epidermal nevus | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8342 | 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; Levy-Hollister syndrome | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8343 | 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; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8344 | 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 | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8345 | Consider a variant on Chromosome 4 in gene FGFR3 (fibroblast growth factor receptor 3). Determine its clinical classification and disease relevance. | Pathogenic; Cervical cancer | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8346 | 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; Achondroplasia | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8347 | 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; Germ cell tumor of testis | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8348 | 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; Colorectal cancer | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8349 | This variant affects gene FGFR3 (fibroblast growth factor receptor 3) located on Chromosome 4. Evaluate its biological effect and specify any disease association. | Pathogenic; Malignant tumor of urinary bladder | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8350 | 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; Thanatophoric dysplasia type 1 | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8351 | 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 | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8352 | Here is a genetic alteration in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Camptodactyly-tall stature-scoliosis-hearing loss syndrome | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... | GGGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGA... |
Task1_train_8353 | 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; not provided | GGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGAC... | GGACTGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGAC... |
Task1_train_8354 | This variant lies on Chromosome 4 and affects the gene FGFR3 (fibroblast growth factor receptor 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Thanatophoric dysplasia type 1 | TGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGACGCTC... | TGGCTGGCTCTGCTGGGCTCCTTCTCTCCAGGGTCTGGCCCTCTAGACTCACTGGCGTTACTGACTGCGAGACCCTCCAGACAAGGCGCGTGCTGAGGTTCTGAGCCCCCTTCCGCTCCCAGTGGTGCCTGCGGCTCTGGGCCAGGGGCATCCATGGGAGCCCCGTGGGGGGGGGGGCCAGGCCAGGCCTCAACGCCCATGTCTTTGCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGACGCTC... |
Task1_train_8355 | This variant affects gene FGFR3 (fibroblast growth factor receptor 3) located on Chromosome 4. Evaluate its biological effect and specify any disease association. | Pathogenic; Epidermal nevus | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... |
Task1_train_8356 | 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; Thanatophoric dysplasia type 1 | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... |
Task1_train_8357 | A variant was discovered in gene FGFR3 (fibroblast growth factor receptor 3), Chromosome 4. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Thanatophoric dysplasia, type 2 | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... |
Task1_train_8358 | 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; Camptodactyly-tall stature-scoliosis-hearing loss syndrome | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... |
Task1_train_8359 | A sequence alteration has been identified in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is it disease-inducing or harmless? | Pathogenic; Achondroplasia | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... |
Task1_train_8360 | 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; Colorectal cancer | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... |
Task1_train_8361 | 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; Muenke syndrome | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... |
Task1_train_8362 | 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; Germ cell tumor of testis | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... |
Task1_train_8363 | 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; Hypochondroplasia | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... |
Task1_train_8364 | 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; Malignant tumor of urinary bladder | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... |
Task1_train_8365 | 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; Levy-Hollister syndrome | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... |
Task1_train_8366 | A variant has been detected on Chromosome 4 in FGFR3 (fibroblast growth factor receptor 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Crouzon syndrome-acanthosis nigricans syndrome | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... |
Task1_train_8367 | 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; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... |
Task1_train_8368 | Consider a variant on Chromosome 4 in gene FGFR3 (fibroblast growth factor receptor 3). Determine its clinical classification and disease relevance. | Pathogenic; Cervical cancer | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... |
Task1_train_8369 | This mutation is located in gene FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... | AGCAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCT... |
Task1_train_8370 | This mutation is located in gene FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | CAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCTGA... | CAGGCTGTAGGGGGAGCATGGAGGGCTTCCTGGAGGTGGTGGCTCTGGGCCTCAAGGGCTGGGCCAGGCTGGGGTGGGGACCGTGGTGGGCTGAGAGTGGGCGAGTTTGCACACTCATGGTCCCTCTGCCTCCACTGCCAGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCTGA... |
Task1_train_8371 | With a mutation on Chromosome 4 in gene LETM1 (leucine zipper and EF-hand containing transmembrane protein 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; LETM1-associated clinical spectrum with predominant nervous system involvement | CCCCACCCCAGAAGAGCGGAGCCACCTATGAAGAGATGAGGTAAAAGGGGTCTCCGACAGCACGTACCACAATCTCTGGGAGGGTCTGCAGTGTGGACTTGAGCTGGTCGGCTGGAGAGAGGGTGTCCGGGAGGTACATGGCCCGGGACAGGATGAGCAGCGATGTGGGGATCTCCTGATGCAGGTGCAGGTCCAGCCACTGCAACCAAGGCCAGGTTCAGCAGATGGGCAGCCCCCCAACCCTGCTGGCCCCACAGCAGGTCCGCCCATCTCATCACCAGAATAGCTCTCAGAGAAGACAGTGTCTCAAGTTCTACAAG... | CCCCACCCCAGAAGAGCGGAGCCACCTATGAAGAGATGAGGTAAAAGGGGTCTCCGACAGCACGTACCACAATCTCTGGGAGGGTCTGCAGTGTGGACTTGAGCTGGTCGGCTGGAGAGAGGGTGTCCGGGAGGTACATGGCCCGGGACAGGATGAGCAGCGATGTGGGGATCTCCTGATGCAGGTGCAGGTCCAGCCACTGCAACCAAGGCCAGGTTCAGCAGATGGGCAGCCCCCCAACCCTGCTGGCCCCACAGCAGGTCCGCCCATCTCATCACCAGAATAGCTCTCAGAGAAGACAGTGTCTCAAGTTCTACAAG... |
Task1_train_8372 | With a mutation on Chromosome 4 in gene LETM1 (leucine zipper and EF-hand containing transmembrane protein 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; LETM1-associated clinical spectrum with predominant nervous system involvement | TTTTTCACATGTTCTGCTCTGTTGTGGCTTTTGGAGCTCTGCGCTGGTGGCTGTTTGAGGCCCAGGTGCAGGGTCTCTAACTGTCATCTCAGGGTTGGTACCAGGCGTTGCTTTTTCTCATTCACTGATACCTTCCTGCTTCTTGACTCTAGATCTGACTTCCAGTGTGTCGCAGCTGACCTCCTCCGGTGCATGGTGGCATGGGCGGTGGGTATTCTAATTTGCACAGAGTTTGCAATTGATGATCTGGCATCTACCAATCCCAGGACCAAGCTAACAAGGCCAAAGCTGTTTCCACTTCCCTATGGTCCAGCTTTCAT... | TTTTTCACATGTTCTGCTCTGTTGTGGCTTTTGGAGCTCTGCGCTGGTGGCTGTTTGAGGCCCAGGTGCAGGGTCTCTAACTGTCATCTCAGGGTTGGTACCAGGCGTTGCTTTTTCTCATTCACTGATACCTTCCTGCTTCTTGACTCTAGATCTGACTTCCAGTGTGTCGCAGCTGACCTCCTCCGGTGCATGGTGGCATGGGCGGTGGGTATTCTAATTTGCACAGAGTTTGCAATTGATGATCTGGCATCTACCAATCCCAGGACCAAGCTAACAAGGCCAAAGCTGTTTCCACTTCCCTATGGTCCAGCTTTCAT... |
Task1_train_8373 | This alteration occurs within gene LETM1 (leucine zipper and EF-hand containing transmembrane protein 1) located on Chromosome 4. Is it associated with a disease or is it a benign variant? | Pathogenic; Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction | CATGGTGGCATGGGCGGTGGGTATTCTAATTTGCACAGAGTTTGCAATTGATGATCTGGCATCTACCAATCCCAGGACCAAGCTAACAAGGCCAAAGCTGTTTCCACTTCCCTATGGTCCAGCTTTCATGGGCCAACCACAAACCCTAACGTCTGTGTTTCCCTTCCTGCCCAGTCAGACATGTCTCCACCTACTGCAGACAAGGAAGGCAGCCATCGTCCCCCCCAGCTTACTGCTCCCCATGGGTGTGGAGGTTTTGTGGGGCTGAGTGACAGGGGAGCTGTGGGTAACACATTTCTCTCAATGGCATTGACCTCTCC... | CATGGTGGCATGGGCGGTGGGTATTCTAATTTGCACAGAGTTTGCAATTGATGATCTGGCATCTACCAATCCCAGGACCAAGCTAACAAGGCCAAAGCTGTTTCCACTTCCCTATGGTCCAGCTTTCATGGGCCAACCACAAACCCTAACGTCTGTGTTTCCCTTCCTGCCCAGTCAGACATGTCTCCACCTACTGCAGACAAGGAAGGCAGCCATCGTCCCCCCCAGCTTACTGCTCCCCATGGGTGTGGAGGTTTTGTGGGGCTGAGTGACAGGGGAGCTGTGGGTAACACATTTCTCTCAATGGCATTGACCTCTCC... |
Task1_train_8374 | This variant affects the gene LETM1 (leucine zipper and EF-hand containing transmembrane protein 1) found on Chromosome 4. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; LETM1-associated clinical spectrum with predominant nervous system involvement | CATGGTGGCATGGGCGGTGGGTATTCTAATTTGCACAGAGTTTGCAATTGATGATCTGGCATCTACCAATCCCAGGACCAAGCTAACAAGGCCAAAGCTGTTTCCACTTCCCTATGGTCCAGCTTTCATGGGCCAACCACAAACCCTAACGTCTGTGTTTCCCTTCCTGCCCAGTCAGACATGTCTCCACCTACTGCAGACAAGGAAGGCAGCCATCGTCCCCCCCAGCTTACTGCTCCCCATGGGTGTGGAGGTTTTGTGGGGCTGAGTGACAGGGGAGCTGTGGGTAACACATTTCTCTCAATGGCATTGACCTCTCC... | CATGGTGGCATGGGCGGTGGGTATTCTAATTTGCACAGAGTTTGCAATTGATGATCTGGCATCTACCAATCCCAGGACCAAGCTAACAAGGCCAAAGCTGTTTCCACTTCCCTATGGTCCAGCTTTCATGGGCCAACCACAAACCCTAACGTCTGTGTTTCCCTTCCTGCCCAGTCAGACATGTCTCCACCTACTGCAGACAAGGAAGGCAGCCATCGTCCCCCCCAGCTTACTGCTCCCCATGGGTGTGGAGGTTTTGTGGGGCTGAGTGACAGGGGAGCTGTGGGTAACACATTTCTCTCAATGGCATTGACCTCTCC... |
Task1_train_8375 | This mutation is located in gene LETM1 (leucine zipper and EF-hand containing transmembrane protein 1) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction | GGTGGCATGGGCGGTGGGTATTCTAATTTGCACAGAGTTTGCAATTGATGATCTGGCATCTACCAATCCCAGGACCAAGCTAACAAGGCCAAAGCTGTTTCCACTTCCCTATGGTCCAGCTTTCATGGGCCAACCACAAACCCTAACGTCTGTGTTTCCCTTCCTGCCCAGTCAGACATGTCTCCACCTACTGCAGACAAGGAAGGCAGCCATCGTCCCCCCCAGCTTACTGCTCCCCATGGGTGTGGAGGTTTTGTGGGGCTGAGTGACAGGGGAGCTGTGGGTAACACATTTCTCTCAATGGCATTGACCTCTCCATG... | GGTGGCATGGGCGGTGGGTATTCTAATTTGCACAGAGTTTGCAATTGATGATCTGGCATCTACCAATCCCAGGACCAAGCTAACAAGGCCAAAGCTGTTTCCACTTCCCTATGGTCCAGCTTTCATGGGCCAACCACAAACCCTAACGTCTGTGTTTCCCTTCCTGCCCAGTCAGACATGTCTCCACCTACTGCAGACAAGGAAGGCAGCCATCGTCCCCCCCAGCTTACTGCTCCCCATGGGTGTGGAGGTTTTGTGGGGCTGAGTGACAGGGGAGCTGTGGGTAACACATTTCTCTCAATGGCATTGACCTCTCCATG... |
Task1_train_8376 | Here is a genetic alteration in LETM1 (leucine zipper and EF-hand containing transmembrane protein 1) on Chromosome 4. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; LETM1-associated clinical spectrum with predominant nervous system involvement | GGTGGCATGGGCGGTGGGTATTCTAATTTGCACAGAGTTTGCAATTGATGATCTGGCATCTACCAATCCCAGGACCAAGCTAACAAGGCCAAAGCTGTTTCCACTTCCCTATGGTCCAGCTTTCATGGGCCAACCACAAACCCTAACGTCTGTGTTTCCCTTCCTGCCCAGTCAGACATGTCTCCACCTACTGCAGACAAGGAAGGCAGCCATCGTCCCCCCCAGCTTACTGCTCCCCATGGGTGTGGAGGTTTTGTGGGGCTGAGTGACAGGGGAGCTGTGGGTAACACATTTCTCTCAATGGCATTGACCTCTCCATG... | GGTGGCATGGGCGGTGGGTATTCTAATTTGCACAGAGTTTGCAATTGATGATCTGGCATCTACCAATCCCAGGACCAAGCTAACAAGGCCAAAGCTGTTTCCACTTCCCTATGGTCCAGCTTTCATGGGCCAACCACAAACCCTAACGTCTGTGTTTCCCTTCCTGCCCAGTCAGACATGTCTCCACCTACTGCAGACAAGGAAGGCAGCCATCGTCCCCCCCAGCTTACTGCTCCCCATGGGTGTGGAGGTTTTGTGGGGCTGAGTGACAGGGGAGCTGTGGGTAACACATTTCTCTCAATGGCATTGACCTCTCCATG... |
Task1_train_8377 | Located on Chromosome 4, this mutation impacts NSD2 (nuclear receptor binding SET domain protein 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Rauch-Steindl syndrome | GGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTTCGATTACAGGCGTGAGCCACTGCACCCGGCCTCAGGTGCATTTTTATTTTCTGTCTGAGAACAGCAAGTCCCAGGCTTTGACCCTGGTGCTTTGTCCTTAGGCCATAGTGGAGGACAGGGAGCTCCCGACAGAACTCTGCCCTGGGCCTGTCTTGTAGAGAGGTGATGGCTGTTCTCTGAGCACTCCTTTGCCTCACACACTTGGCCGCATTTAAAAATACCTGCCCACTGACAGTTGTTCATAGACTCTAGTTTT... | GGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTTCGATTACAGGCGTGAGCCACTGCACCCGGCCTCAGGTGCATTTTTATTTTCTGTCTGAGAACAGCAAGTCCCAGGCTTTGACCCTGGTGCTTTGTCCTTAGGCCATAGTGGAGGACAGGGAGCTCCCGACAGAACTCTGCCCTGGGCCTGTCTTGTAGAGAGGTGATGGCTGTTCTCTGAGCACTCCTTTGCCTCACACACTTGGCCGCATTTAAAAATACCTGCCCACTGACAGTTGTTCATAGACTCTAGTTTT... |
Task1_train_8378 | Gene NSD2 (nuclear receptor binding SET domain protein 2) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; NSD2-related disorder | ACATTTTTTTTTCTTTTTGGAGACGGAGTCTCACTCTGTCGCCTAGGCTGGAGTTCAGTGGCACAATCTCAGCTCACTGCACCCTCTGCCTCACAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGATTACCGGTGCCCACCACCATAGCTGGATAATTTTTTGTATTTTTATTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGGCCTCAAGTGATCCTTGGCCTCCCAAAGTACTGGGATTATAGGTGTGAGCCACCGCGCCCGGCCGACATATTGTTATAAAGGGGTCTGATG... | ACATTTTTTTTTCTTTTTGGAGACGGAGTCTCACTCTGTCGCCTAGGCTGGAGTTCAGTGGCACAATCTCAGCTCACTGCACCCTCTGCCTCACAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGATTACCGGTGCCCACCACCATAGCTGGATAATTTTTTGTATTTTTATTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGGCCTCAAGTGATCCTTGGCCTCCCAAAGTACTGGGATTATAGGTGTGAGCCACCGCGCCCGGCCGACATATTGTTATAAAGGGGTCTGATG... |
Task1_train_8379 | The gene NSD2 (nuclear receptor binding SET domain protein 2) on Chromosome 4 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Rauch-Steindl syndrome | ACATTTTTTTTTCTTTTTGGAGACGGAGTCTCACTCTGTCGCCTAGGCTGGAGTTCAGTGGCACAATCTCAGCTCACTGCACCCTCTGCCTCACAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGATTACCGGTGCCCACCACCATAGCTGGATAATTTTTTGTATTTTTATTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGGCCTCAAGTGATCCTTGGCCTCCCAAAGTACTGGGATTATAGGTGTGAGCCACCGCGCCCGGCCGACATATTGTTATAAAGGGGTCTGATG... | ACATTTTTTTTTCTTTTTGGAGACGGAGTCTCACTCTGTCGCCTAGGCTGGAGTTCAGTGGCACAATCTCAGCTCACTGCACCCTCTGCCTCACAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGATTACCGGTGCCCACCACCATAGCTGGATAATTTTTTGTATTTTTATTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGGCCTCAAGTGATCCTTGGCCTCCCAAAGTACTGGGATTATAGGTGTGAGCCACCGCGCCCGGCCGACATATTGTTATAAAGGGGTCTGATG... |
Task1_train_8380 | Chromosome 4 houses a mutation in gene SH3BP2 (SH3 domain binding protein 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Fibrous dysplasia of jaw | CCCCCAGTGCCCACGCCCAGGAAGCCAGCCTTCTCTGACATGCCCCGGGCCCACTCCTTTACCTCCAAGGGCCCCGGTCCCCTACTGCCACCCCCGCCCCCTAAGCACGGCCTCCCAGATGTTGGCCTGGCTGCTGAGGACTCCAAGAGGGACCCACTGTGCCCGAGGCGGGCTGAGCCTTGCCCCAGGGTACCTGCTACCCCCCGAAGGATGAGCGATCCCCCTCTGAGCACCATGCCCACCGCACCCGGCCTCCGGAAACCCCCTTGCTTCCGGGAGAGTGCCAGCCCCAGCCCGGAGCCCTGGACCCCTGGCCACGG... | CCCCCAGTGCCCACGCCCAGGAAGCCAGCCTTCTCTGACATGCCCCGGGCCCACTCCTTTACCTCCAAGGGCCCCGGTCCCCTACTGCCACCCCCGCCCCCTAAGCACGGCCTCCCAGATGTTGGCCTGGCTGCTGAGGACTCCAAGAGGGACCCACTGTGCCCGAGGCGGGCTGAGCCTTGCCCCAGGGTACCTGCTACCCCCCGAAGGATGAGCGATCCCCCTCTGAGCACCATGCCCACCGCACCCGGCCTCCGGAAACCCCCTTGCTTCCGGGAGAGTGCCAGCCCCAGCCCGGAGCCCTGGACCCCTGGCCACGG... |
Task1_train_8381 | This variant lies on Chromosome 4 and affects the gene SH3BP2 (SH3 domain binding protein 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Fibrous dysplasia of jaw | CCCCCAGTGCCCACGCCCAGGAAGCCAGCCTTCTCTGACATGCCCCGGGCCCACTCCTTTACCTCCAAGGGCCCCGGTCCCCTACTGCCACCCCCGCCCCCTAAGCACGGCCTCCCAGATGTTGGCCTGGCTGCTGAGGACTCCAAGAGGGACCCACTGTGCCCGAGGCGGGCTGAGCCTTGCCCCAGGGTACCTGCTACCCCCCGAAGGATGAGCGATCCCCCTCTGAGCACCATGCCCACCGCACCCGGCCTCCGGAAACCCCCTTGCTTCCGGGAGAGTGCCAGCCCCAGCCCGGAGCCCTGGACCCCTGGCCACGG... | CCCCCAGTGCCCACGCCCAGGAAGCCAGCCTTCTCTGACATGCCCCGGGCCCACTCCTTTACCTCCAAGGGCCCCGGTCCCCTACTGCCACCCCCGCCCCCTAAGCACGGCCTCCCAGATGTTGGCCTGGCTGCTGAGGACTCCAAGAGGGACCCACTGTGCCCGAGGCGGGCTGAGCCTTGCCCCAGGGTACCTGCTACCCCCCGAAGGATGAGCGATCCCCCTCTGAGCACCATGCCCACCGCACCCGGCCTCCGGAAACCCCCTTGCTTCCGGGAGAGTGCCAGCCCCAGCCCGGAGCCCTGGACCCCTGGCCACGG... |
Task1_train_8382 | This genomic variant is located on Chromosome 4, within the SH3BP2 (SH3 domain binding protein 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | GCCCACGCCCAGGAAGCCAGCCTTCTCTGACATGCCCCGGGCCCACTCCTTTACCTCCAAGGGCCCCGGTCCCCTACTGCCACCCCCGCCCCCTAAGCACGGCCTCCCAGATGTTGGCCTGGCTGCTGAGGACTCCAAGAGGGACCCACTGTGCCCGAGGCGGGCTGAGCCTTGCCCCAGGGTACCTGCTACCCCCCGAAGGATGAGCGATCCCCCTCTGAGCACCATGCCCACCGCACCCGGCCTCCGGAAACCCCCTTGCTTCCGGGAGAGTGCCAGCCCCAGCCCGGAGCCCTGGACCCCTGGCCACGGGGCCTGCT... | GCCCACGCCCAGGAAGCCAGCCTTCTCTGACATGCCCCGGGCCCACTCCTTTACCTCCAAGGGCCCCGGTCCCCTACTGCCACCCCCGCCCCCTAAGCACGGCCTCCCAGATGTTGGCCTGGCTGCTGAGGACTCCAAGAGGGACCCACTGTGCCCGAGGCGGGCTGAGCCTTGCCCCAGGGTACCTGCTACCCCCCGAAGGATGAGCGATCCCCCTCTGAGCACCATGCCCACCGCACCCGGCCTCCGGAAACCCCCTTGCTTCCGGGAGAGTGCCAGCCCCAGCCCGGAGCCCTGGACCCCTGGCCACGGGGCCTGCT... |
Task1_train_8383 | This is a variant in SH3BP2 (SH3 domain binding protein 2), located on Chromosome 4. Is this mutation a likely cause of disease or not? | Pathogenic; Fibrous dysplasia of jaw | CCCACGCCCAGGAAGCCAGCCTTCTCTGACATGCCCCGGGCCCACTCCTTTACCTCCAAGGGCCCCGGTCCCCTACTGCCACCCCCGCCCCCTAAGCACGGCCTCCCAGATGTTGGCCTGGCTGCTGAGGACTCCAAGAGGGACCCACTGTGCCCGAGGCGGGCTGAGCCTTGCCCCAGGGTACCTGCTACCCCCCGAAGGATGAGCGATCCCCCTCTGAGCACCATGCCCACCGCACCCGGCCTCCGGAAACCCCCTTGCTTCCGGGAGAGTGCCAGCCCCAGCCCGGAGCCCTGGACCCCTGGCCACGGGGCCTGCTC... | CCCACGCCCAGGAAGCCAGCCTTCTCTGACATGCCCCGGGCCCACTCCTTTACCTCCAAGGGCCCCGGTCCCCTACTGCCACCCCCGCCCCCTAAGCACGGCCTCCCAGATGTTGGCCTGGCTGCTGAGGACTCCAAGAGGGACCCACTGTGCCCGAGGCGGGCTGAGCCTTGCCCCAGGGTACCTGCTACCCCCCGAAGGATGAGCGATCCCCCTCTGAGCACCATGCCCACCGCACCCGGCCTCCGGAAACCCCCTTGCTTCCGGGAGAGTGCCAGCCCCAGCCCGGAGCCCTGGACCCCTGGCCACGGGGCCTGCTC... |
Task1_train_8384 | Here is a mutation in SH3BP2 (SH3 domain binding protein 2) on Chromosome 4. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Fibrous dysplasia of jaw | CCCACGCCCAGGAAGCCAGCCTTCTCTGACATGCCCCGGGCCCACTCCTTTACCTCCAAGGGCCCCGGTCCCCTACTGCCACCCCCGCCCCCTAAGCACGGCCTCCCAGATGTTGGCCTGGCTGCTGAGGACTCCAAGAGGGACCCACTGTGCCCGAGGCGGGCTGAGCCTTGCCCCAGGGTACCTGCTACCCCCCGAAGGATGAGCGATCCCCCTCTGAGCACCATGCCCACCGCACCCGGCCTCCGGAAACCCCCTTGCTTCCGGGAGAGTGCCAGCCCCAGCCCGGAGCCCTGGACCCCTGGCCACGGGGCCTGCTC... | CCCACGCCCAGGAAGCCAGCCTTCTCTGACATGCCCCGGGCCCACTCCTTTACCTCCAAGGGCCCCGGTCCCCTACTGCCACCCCCGCCCCCTAAGCACGGCCTCCCAGATGTTGGCCTGGCTGCTGAGGACTCCAAGAGGGACCCACTGTGCCCGAGGCGGGCTGAGCCTTGCCCCAGGGTACCTGCTACCCCCCGAAGGATGAGCGATCCCCCTCTGAGCACCATGCCCACCGCACCCGGCCTCCGGAAACCCCCTTGCTTCCGGGAGAGTGCCAGCCCCAGCCCGGAGCCCTGGACCCCTGGCCACGGGGCCTGCTC... |
Task1_train_8385 | A genomic change on Chromosome 4 affects SH3BP2 (SH3 domain binding protein 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Fibrous dysplasia of jaw | GCCCAGGAAGCCAGCCTTCTCTGACATGCCCCGGGCCCACTCCTTTACCTCCAAGGGCCCCGGTCCCCTACTGCCACCCCCGCCCCCTAAGCACGGCCTCCCAGATGTTGGCCTGGCTGCTGAGGACTCCAAGAGGGACCCACTGTGCCCGAGGCGGGCTGAGCCTTGCCCCAGGGTACCTGCTACCCCCCGAAGGATGAGCGATCCCCCTCTGAGCACCATGCCCACCGCACCCGGCCTCCGGAAACCCCCTTGCTTCCGGGAGAGTGCCAGCCCCAGCCCGGAGCCCTGGACCCCTGGCCACGGGGCCTGCTCCACTT... | GCCCAGGAAGCCAGCCTTCTCTGACATGCCCCGGGCCCACTCCTTTACCTCCAAGGGCCCCGGTCCCCTACTGCCACCCCCGCCCCCTAAGCACGGCCTCCCAGATGTTGGCCTGGCTGCTGAGGACTCCAAGAGGGACCCACTGTGCCCGAGGCGGGCTGAGCCTTGCCCCAGGGTACCTGCTACCCCCCGAAGGATGAGCGATCCCCCTCTGAGCACCATGCCCACCGCACCCGGCCTCCGGAAACCCCCTTGCTTCCGGGAGAGTGCCAGCCCCAGCCCGGAGCCCTGGACCCCTGGCCACGGGGCCTGCTCCACTT... |
Task1_train_8386 | A variant was discovered in gene SH3BP2 (SH3 domain binding protein 2), Chromosome 4. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Fibrous dysplasia of jaw | GCCCAGGAAGCCAGCCTTCTCTGACATGCCCCGGGCCCACTCCTTTACCTCCAAGGGCCCCGGTCCCCTACTGCCACCCCCGCCCCCTAAGCACGGCCTCCCAGATGTTGGCCTGGCTGCTGAGGACTCCAAGAGGGACCCACTGTGCCCGAGGCGGGCTGAGCCTTGCCCCAGGGTACCTGCTACCCCCCGAAGGATGAGCGATCCCCCTCTGAGCACCATGCCCACCGCACCCGGCCTCCGGAAACCCCCTTGCTTCCGGGAGAGTGCCAGCCCCAGCCCGGAGCCCTGGACCCCTGGCCACGGGGCCTGCTCCACTT... | GCCCAGGAAGCCAGCCTTCTCTGACATGCCCCGGGCCCACTCCTTTACCTCCAAGGGCCCCGGTCCCCTACTGCCACCCCCGCCCCCTAAGCACGGCCTCCCAGATGTTGGCCTGGCTGCTGAGGACTCCAAGAGGGACCCACTGTGCCCGAGGCGGGCTGAGCCTTGCCCCAGGGTACCTGCTACCCCCCGAAGGATGAGCGATCCCCCTCTGAGCACCATGCCCACCGCACCCGGCCTCCGGAAACCCCCTTGCTTCCGGGAGAGTGCCAGCCCCAGCCCGGAGCCCTGGACCCCTGGCCACGGGGCCTGCTCCACTT... |
Task1_train_8387 | This variant lies on Chromosome 4 and affects the gene HTT (huntingtin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Lopes-Maciel-Rodan syndrome | TACTTGCTTTTGGGAAAGAGGGGTGGGGGTTAGGGGTCTGGGCGAGGGGAGTGCAGGGGCTCCTCCTTGGCCTGAGAGCTGTTCATACAGACTCCTCGCCCACTCCCTGCAGGGTGCTGGGTCCCAGGGGGGAAATGGCCCTTGGTGCCAAGAACGTGAGTTGGGGCTAGTGCCAGTGATGATGGAGAACAGCTTTTTATGGGCACACAGCCCACAGCACTGTGCCAAGTGCTCGAGGCTTCCCGAGAACCAGGCAGAAAGGAGGACAGTCGAGGTGTGCTGACTGCGTGGTGGCTGCGTGATCTAGAGCGCGGGTCACA... | TACTTGCTTTTGGGAAAGAGGGGTGGGGGTTAGGGGTCTGGGCGAGGGGAGTGCAGGGGCTCCTCCTTGGCCTGAGAGCTGTTCATACAGACTCCTCGCCCACTCCCTGCAGGGTGCTGGGTCCCAGGGGGGAAATGGCCCTTGGTGCCAAGAACGTGAGTTGGGGCTAGTGCCAGTGATGATGGAGAACAGCTTTTTATGGGCACACAGCCCACAGCACTGTGCCAAGTGCTCGAGGCTTCCCGAGAACCAGGCAGAAAGGAGGACAGTCGAGGTGTGCTGACTGCGTGGTGGCTGCGTGATCTAGAGCGCGGGTCACA... |
Task1_train_8388 | The gene DOK7 (docking protein 7) on Chromosome 4 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Congenital myasthenic syndrome 10 | CTCAGCTTTTTAGGGTCCCCCAAGGCAGAGGTGGCCCGGGCCCCTGCAGCGATCTCACAACACACTTCAACTGCAGACGGTGGAGACTGCGGGCTGTCCTCCGGCTCAAGCGGCCCTGGGGCCCCCGTCCTGCGCGGAGCCACCCGTGTTCATGCTGTTCCCACACACCGTCATTTCTTGGGTGCTCTGGTGACGCATTTGAGGGACATTGCTGTTACGGCGAATTCCGATTACGCCGCTGTGTTTGATTTCTCTCTTGGGGCCGGGCGTCCTGCTTCCTGCCTTGGAGTTTCCAGAGGGGGCCAGGAGATTGTCTGGAA... | CTCAGCTTTTTAGGGTCCCCCAAGGCAGAGGTGGCCCGGGCCCCTGCAGCGATCTCACAACACACTTCAACTGCAGACGGTGGAGACTGCGGGCTGTCCTCCGGCTCAAGCGGCCCTGGGGCCCCCGTCCTGCGCGGAGCCACCCGTGTTCATGCTGTTCCCACACACCGTCATTTCTTGGGTGCTCTGGTGACGCATTTGAGGGACATTGCTGTTACGGCGAATTCCGATTACGCCGCTGTGTTTGATTTCTCTCTTGGGGCCGGGCGTCCTGCTTCCTGCCTTGGAGTTTCCAGAGGGGGCCAGGAGATTGTCTGGAA... |
Task1_train_8389 | This variant affects gene DOK7 (docking protein 7) located on Chromosome 4. Evaluate its biological effect and specify any disease association. | Pathogenic; Congenital myasthenic syndrome 10 | GTCCTGCGCGGAGCCACCCGTGTTCATGCTGTTCCCACACACCGTCATTTCTTGGGTGCTCTGGTGACGCATTTGAGGGACATTGCTGTTACGGCGAATTCCGATTACGCCGCTGTGTTTGATTTCTCTCTTGGGGCCGGGCGTCCTGCTTCCTGCCTTGGAGTTTCCAGAGGGGGCCAGGAGATTGTCTGGAAAGCCTCAGCTGGGCAGGCGGAGTTCTGTAGGTGCGGGAATGAGGGGGCTTCTTTCTCAAATTGGGAATGCCTAGCTTTTTTCTAGCTGTAAACGTTTCAGACGCTGCGGACAGATCCTCCAATGGG... | GTCCTGCGCGGAGCCACCCGTGTTCATGCTGTTCCCACACACCGTCATTTCTTGGGTGCTCTGGTGACGCATTTGAGGGACATTGCTGTTACGGCGAATTCCGATTACGCCGCTGTGTTTGATTTCTCTCTTGGGGCCGGGCGTCCTGCTTCCTGCCTTGGAGTTTCCAGAGGGGGCCAGGAGATTGTCTGGAAAGCCTCAGCTGGGCAGGCGGAGTTCTGTAGGTGCGGGAATGAGGGGGCTTCTTTCTCAAATTGGGAATGCCTAGCTTTTTTCTAGCTGTAAACGTTTCAGACGCTGCGGACAGATCCTCCAATGGG... |
Task1_train_8390 | A variant found in Chromosome 4 affects DOK7 (docking protein 7). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Fetal akinesia deformation sequence 1 | GCTGGGCACGGTGGCTCATACCTGTAATTCCAGTACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGCCCAGGAGATAGAGACCAGACCACCCTGGGCAACGTGGCGAAACCTCGTCTCTACTAAAAATACAAAAATGATGGCCAGGTGCAGTGGCTCATGCCTGTAAACCTTGTGCTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGACTTCGAGACCAGCCTGGCCAACATAGCGAAGCCCCATCTCTACTAAAAATGGAAAAATTAGCCTGGTGTGGTGGTGGGCACATGTAATCCCAGCTACTCAGGA... | GCTGGGCACGGTGGCTCATACCTGTAATTCCAGTACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGCCCAGGAGATAGAGACCAGACCACCCTGGGCAACGTGGCGAAACCTCGTCTCTACTAAAAATACAAAAATGATGGCCAGGTGCAGTGGCTCATGCCTGTAAACCTTGTGCTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGACTTCGAGACCAGCCTGGCCAACATAGCGAAGCCCCATCTCTACTAAAAATGGAAAAATTAGCCTGGTGTGGTGGTGGGCACATGTAATCCCAGCTACTCAGGA... |
Task1_train_8391 | This mutation occurs in DOK7 (docking protein 7) on Chromosome 4. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Fetal akinesia deformation sequence 3 | GCTGGGCACGGTGGCTCATACCTGTAATTCCAGTACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGCCCAGGAGATAGAGACCAGACCACCCTGGGCAACGTGGCGAAACCTCGTCTCTACTAAAAATACAAAAATGATGGCCAGGTGCAGTGGCTCATGCCTGTAAACCTTGTGCTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGACTTCGAGACCAGCCTGGCCAACATAGCGAAGCCCCATCTCTACTAAAAATGGAAAAATTAGCCTGGTGTGGTGGTGGGCACATGTAATCCCAGCTACTCAGGA... | GCTGGGCACGGTGGCTCATACCTGTAATTCCAGTACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGCCCAGGAGATAGAGACCAGACCACCCTGGGCAACGTGGCGAAACCTCGTCTCTACTAAAAATACAAAAATGATGGCCAGGTGCAGTGGCTCATGCCTGTAAACCTTGTGCTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGACTTCGAGACCAGCCTGGCCAACATAGCGAAGCCCCATCTCTACTAAAAATGGAAAAATTAGCCTGGTGTGGTGGTGGGCACATGTAATCCCAGCTACTCAGGA... |
Task1_train_8392 | This mutation occurs in DOK7 (docking protein 7) on Chromosome 4. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Fetal akinesia deformation sequence 1 | GCTGGGCACGGTGGCTCATACCTGTAATTCCAGTACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGCCCAGGAGATAGAGACCAGACCACCCTGGGCAACGTGGCGAAACCTCGTCTCTACTAAAAATACAAAAATGATGGCCAGGTGCAGTGGCTCATGCCTGTAAACCTTGTGCTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGACTTCGAGACCAGCCTGGCCAACATAGCGAAGCCCCATCTCTACTAAAAATGGAAAAATTAGCCTGGTGTGGTGGTGGGCACATGTAATCCCAGCTACTCAGGA... | GCTGGGCACGGTGGCTCATACCTGTAATTCCAGTACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGCCCAGGAGATAGAGACCAGACCACCCTGGGCAACGTGGCGAAACCTCGTCTCTACTAAAAATACAAAAATGATGGCCAGGTGCAGTGGCTCATGCCTGTAAACCTTGTGCTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGACTTCGAGACCAGCCTGGCCAACATAGCGAAGCCCCATCTCTACTAAAAATGGAAAAATTAGCCTGGTGTGGTGGTGGGCACATGTAATCCCAGCTACTCAGGA... |
Task1_train_8393 | This mutation occurs in DOK7 (docking protein 7) on Chromosome 4. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Congenital myasthenic syndrome 10 | GCTGGGCACGGTGGCTCATACCTGTAATTCCAGTACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGCCCAGGAGATAGAGACCAGACCACCCTGGGCAACGTGGCGAAACCTCGTCTCTACTAAAAATACAAAAATGATGGCCAGGTGCAGTGGCTCATGCCTGTAAACCTTGTGCTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGACTTCGAGACCAGCCTGGCCAACATAGCGAAGCCCCATCTCTACTAAAAATGGAAAAATTAGCCTGGTGTGGTGGTGGGCACATGTAATCCCAGCTACTCAGGA... | GCTGGGCACGGTGGCTCATACCTGTAATTCCAGTACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGCCCAGGAGATAGAGACCAGACCACCCTGGGCAACGTGGCGAAACCTCGTCTCTACTAAAAATACAAAAATGATGGCCAGGTGCAGTGGCTCATGCCTGTAAACCTTGTGCTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGACTTCGAGACCAGCCTGGCCAACATAGCGAAGCCCCATCTCTACTAAAAATGGAAAAATTAGCCTGGTGTGGTGGTGGGCACATGTAATCCCAGCTACTCAGGA... |
Task1_train_8394 | A sequence alteration has been identified in DOK7 (docking protein 7) on Chromosome 4. Is it disease-inducing or harmless? | Pathogenic; Congenital myasthenic syndrome | GCTGGGCACGGTGGCTCATACCTGTAATTCCAGTACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGCCCAGGAGATAGAGACCAGACCACCCTGGGCAACGTGGCGAAACCTCGTCTCTACTAAAAATACAAAAATGATGGCCAGGTGCAGTGGCTCATGCCTGTAAACCTTGTGCTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGACTTCGAGACCAGCCTGGCCAACATAGCGAAGCCCCATCTCTACTAAAAATGGAAAAATTAGCCTGGTGTGGTGGTGGGCACATGTAATCCCAGCTACTCAGGA... | GCTGGGCACGGTGGCTCATACCTGTAATTCCAGTACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGCCCAGGAGATAGAGACCAGACCACCCTGGGCAACGTGGCGAAACCTCGTCTCTACTAAAAATACAAAAATGATGGCCAGGTGCAGTGGCTCATGCCTGTAAACCTTGTGCTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGACTTCGAGACCAGCCTGGCCAACATAGCGAAGCCCCATCTCTACTAAAAATGGAAAAATTAGCCTGGTGTGGTGGTGGGCACATGTAATCCCAGCTACTCAGGA... |
Task1_train_8395 | This mutation occurs in DOK7 (docking protein 7) on Chromosome 4. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Congenital myasthenic syndrome 10 | TTCGGGAGGCTGAGGTGGGTGGATCACCTGAGCCCAGGAGATAGAGACCAGACCACCCTGGGCAACGTGGCGAAACCTCGTCTCTACTAAAAATACAAAAATGATGGCCAGGTGCAGTGGCTCATGCCTGTAAACCTTGTGCTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGACTTCGAGACCAGCCTGGCCAACATAGCGAAGCCCCATCTCTACTAAAAATGGAAAAATTAGCCTGGTGTGGTGGTGGGCACATGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCA... | TTCGGGAGGCTGAGGTGGGTGGATCACCTGAGCCCAGGAGATAGAGACCAGACCACCCTGGGCAACGTGGCGAAACCTCGTCTCTACTAAAAATACAAAAATGATGGCCAGGTGCAGTGGCTCATGCCTGTAAACCTTGTGCTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGACTTCGAGACCAGCCTGGCCAACATAGCGAAGCCCCATCTCTACTAAAAATGGAAAAATTAGCCTGGTGTGGTGGTGGGCACATGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCA... |
Task1_train_8396 | Given this context: Chromosome 4, gene DOK7 (docking protein 7) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Fetal akinesia deformation sequence 1 | TTCGGGAGGCTGAGGTGGGTGGATCACCTGAGCCCAGGAGATAGAGACCAGACCACCCTGGGCAACGTGGCGAAACCTCGTCTCTACTAAAAATACAAAAATGATGGCCAGGTGCAGTGGCTCATGCCTGTAAACCTTGTGCTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGACTTCGAGACCAGCCTGGCCAACATAGCGAAGCCCCATCTCTACTAAAAATGGAAAAATTAGCCTGGTGTGGTGGTGGGCACATGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCA... | TTCGGGAGGCTGAGGTGGGTGGATCACCTGAGCCCAGGAGATAGAGACCAGACCACCCTGGGCAACGTGGCGAAACCTCGTCTCTACTAAAAATACAAAAATGATGGCCAGGTGCAGTGGCTCATGCCTGTAAACCTTGTGCTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGACTTCGAGACCAGCCTGGCCAACATAGCGAAGCCCCATCTCTACTAAAAATGGAAAAATTAGCCTGGTGTGGTGGTGGGCACATGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCA... |
Task1_train_8397 | This is a variant in DOK7 (docking protein 7), located on Chromosome 4. Is this mutation a likely cause of disease or not? | Pathogenic; Fetal akinesia deformation sequence 3 | CCAGGCCTTGCCCGGTTGACCGTGTCTTCGGGGTGAGTGACGCTCCGCAGACGCCGCATGGAATGCGGGGCCGGCTCCACTCCTTCCGTAATGTGGTTTTTTATAGTCGGGGGACTCATTGTCCCGTGGCCACTGCCAGCTGTCTGTAAGCTCAGGATTAGAGAGCCTGGCCTTTCGTGAGAGCTGGGGCTGTGCCGGCTGAGCCCTTCACAGGGAGGGGTGGACCACGGGGACAGGGAGCGACTGCCTGGCACTGAGTGAGCCAGCCAGCAGACAGCATGACGGCCTTCTCCTTGCCTGCCCCCAGGGCCTGGTGCAGG... | CCAGGCCTTGCCCGGTTGACCGTGTCTTCGGGGTGAGTGACGCTCCGCAGACGCCGCATGGAATGCGGGGCCGGCTCCACTCCTTCCGTAATGTGGTTTTTTATAGTCGGGGGACTCATTGTCCCGTGGCCACTGCCAGCTGTCTGTAAGCTCAGGATTAGAGAGCCTGGCCTTTCGTGAGAGCTGGGGCTGTGCCGGCTGAGCCCTTCACAGGGAGGGGTGGACCACGGGGACAGGGAGCGACTGCCTGGCACTGAGTGAGCCAGCCAGCAGACAGCATGACGGCCTTCTCCTTGCCTGCCCCCAGGGCCTGGTGCAGG... |
Task1_train_8398 | Consider a variant on Chromosome 4 in gene DOK7 (docking protein 7). Determine its clinical classification and disease relevance. | Pathogenic; Fetal akinesia deformation sequence 3 | CCAGGCCTTGCCCGGTTGACCGTGTCTTCGGGGTGAGTGACGCTCCGCAGACGCCGCATGGAATGCGGGGCCGGCTCCACTCCTTCCGTAATGTGGTTTTTTATAGTCGGGGGACTCATTGTCCCGTGGCCACTGCCAGCTGTCTGTAAGCTCAGGATTAGAGAGCCTGGCCTTTCGTGAGAGCTGGGGCTGTGCCGGCTGAGCCCTTCACAGGGAGGGGTGGACCACGGGGACAGGGAGCGACTGCCTGGCACTGAGTGAGCCAGCCAGCAGACAGCATGACGGCCTTCTCCTTGCCTGCCCCCAGGGCCTGGTGCAGG... | CCAGGCCTTGCCCGGTTGACCGTGTCTTCGGGGTGAGTGACGCTCCGCAGACGCCGCATGGAATGCGGGGCCGGCTCCACTCCTTCCGTAATGTGGTTTTTTATAGTCGGGGGACTCATTGTCCCGTGGCCACTGCCAGCTGTCTGTAAGCTCAGGATTAGAGAGCCTGGCCTTTCGTGAGAGCTGGGGCTGTGCCGGCTGAGCCCTTCACAGGGAGGGGTGGACCACGGGGACAGGGAGCGACTGCCTGGCACTGAGTGAGCCAGCCAGCAGACAGCATGACGGCCTTCTCCTTGCCTGCCCCCAGGGCCTGGTGCAGG... |
Task1_train_8399 | The gene DOK7 (docking protein 7) on Chromosome 4 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Congenital myasthenic syndrome 10 | CCAGGCCTTGCCCGGTTGACCGTGTCTTCGGGGTGAGTGACGCTCCGCAGACGCCGCATGGAATGCGGGGCCGGCTCCACTCCTTCCGTAATGTGGTTTTTTATAGTCGGGGGACTCATTGTCCCGTGGCCACTGCCAGCTGTCTGTAAGCTCAGGATTAGAGAGCCTGGCCTTTCGTGAGAGCTGGGGCTGTGCCGGCTGAGCCCTTCACAGGGAGGGGTGGACCACGGGGACAGGGAGCGACTGCCTGGCACTGAGTGAGCCAGCCAGCAGACAGCATGACGGCCTTCTCCTTGCCTGCCCCCAGGGCCTGGTGCAGG... | CCAGGCCTTGCCCGGTTGACCGTGTCTTCGGGGTGAGTGACGCTCCGCAGACGCCGCATGGAATGCGGGGCCGGCTCCACTCCTTCCGTAATGTGGTTTTTTATAGTCGGGGGACTCATTGTCCCGTGGCCACTGCCAGCTGTCTGTAAGCTCAGGATTAGAGAGCCTGGCCTTTCGTGAGAGCTGGGGCTGTGCCGGCTGAGCCCTTCACAGGGAGGGGTGGACCACGGGGACAGGGAGCGACTGCCTGGCACTGAGTGAGCCAGCCAGCAGACAGCATGACGGCCTTCTCCTTGCCTGCCCCCAGGGCCTGGTGCAGG... |
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