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_8200 | 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; Hypochondroplasia | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8201 | The gene FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Muenke syndrome | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8202 | 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; Achondroplasia | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8203 | 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; Malignant tumor of testis | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8204 | A genomic change on Chromosome 4 affects FGFR3 (fibroblast growth factor receptor 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8205 | 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; Epidermal nevus | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8206 | 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 1 | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8207 | 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 | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8208 | 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; Connective tissue disorder | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8209 | 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; Thanatophoric dysplasia type 1 | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8210 | 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; FGFR3-related disorder | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8211 | 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; Malignant tumor of urinary bladder | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8212 | 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; Cervical cancer | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8213 | 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; Achondroplasia | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8214 | Consider a variant on Chromosome 4 in gene FGFR3 (fibroblast growth factor receptor 3). Determine its clinical classification and disease relevance. | Pathogenic; Thanatophoric dysplasia type 1 | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8215 | 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; Thanatophoric dysplasia, type 2 | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8216 | 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; Malignant neoplastic disease | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... | GGACACAGGTGTGGACACAGGTAGGAGCAGGGTCCAGGGTTCAGGCCAGCCGGGGTGGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTG... |
Task1_train_8217 | 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 | GGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTGGTGTTGGCTATAGGTGAGGTGGACCCCGCAGACATTAGCGCAGCAGGGCAGGGCAC... | GGGGCCCGCTGCCACCGCCAAGCCCTGCCCTTCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTGGTGTTGGCTATAGGTGAGGTGGACCCCGCAGACATTAGCGCAGCAGGGCAGGGCAC... |
Task1_train_8218 | 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; Short stature | TCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTGGTGTTGGCTATAGGTGAGGTGGACCCCGCAGACATTAGCGCAGCAGGGCAGGGCACTCAGGTGGCTGCCGTGGGGTGGATGGACCCG... | TCACAGGCAGCTGAGGGACTAAGGCCCCGGAACAACCTCCCTGGGGTCACCCCGAAGGTCTGGTCCCCTCAGGATACAGGAGGGGCTGGGTCACTGACATGGCTCTAGATGCCCCACCCTGGTGGCAGGGCTGGGGTGCAAGGGGACACCGTGTTGCTGATGGGGAGACTGAGGCACAGGGCCCTGGGGGTTCCAGGAGCAGGAGGAGGCCAGGGCTGGCCTGTGGGGCTCTGGTGTTGGCTATAGGTGAGGTGGACCCCGCAGACATTAGCGCAGCAGGGCAGGGCACTCAGGTGGCTGCCGTGGGGTGGATGGACCCG... |
Task1_train_8219 | 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; Carcinoma of colon | AACTACACCTGCGTCGTGGAGAACAAGTTTGGCAGCATCCGGCAGACGTACACGCTGGACGTGCTGGGTGAGGGCCCTGGGGCGGCGCGGGGGTGGGGGCGGCAGTGGCGGTGGTGGTGAGGGAGGGGGTGGCCCCTGAGCGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGGCGGGGCTGCCGGCCAACCAGACGGCGGTGCTGGGCAGCGACGTGGAGTTCCACTGCAAGGTGTACAGTGACGCACAGCCCCACATCCAGTGGCTCAAGCACGTGGAGGTGAATGGCAGCAAGGTGGGCCCGG... | AACTACACCTGCGTCGTGGAGAACAAGTTTGGCAGCATCCGGCAGACGTACACGCTGGACGTGCTGGGTGAGGGCCCTGGGGCGGCGCGGGGGTGGGGGCGGCAGTGGCGGTGGTGGTGAGGGAGGGGGTGGCCCCTGAGCGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGGCGGGGCTGCCGGCCAACCAGACGGCGGTGCTGGGCAGCGACGTGGAGTTCCACTGCAAGGTGTACAGTGACGCACAGCCCCACATCCAGTGGCTCAAGCACGTGGAGGTGAATGGCAGCAAGGTGGGCCCGG... |
Task1_train_8220 | 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; Hypochondroplasia | GTGCTGGGTGAGGGCCCTGGGGCGGCGCGGGGGTGGGGGCGGCAGTGGCGGTGGTGGTGAGGGAGGGGGTGGCCCCTGAGCGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGGCGGGGCTGCCGGCCAACCAGACGGCGGTGCTGGGCAGCGACGTGGAGTTCCACTGCAAGGTGTACAGTGACGCACAGCCCCACATCCAGTGGCTCAAGCACGTGGAGGTGAATGGCAGCAAGGTGGGCCCGGACGGCACACCCTACGTTACCGTGCTCAAGGTGGGCCACCGTGTGCACGTGGGTGCCGCCG... | GTGCTGGGTGAGGGCCCTGGGGCGGCGCGGGGGTGGGGGCGGCAGTGGCGGTGGTGGTGAGGGAGGGGGTGGCCCCTGAGCGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGGCGGGGCTGCCGGCCAACCAGACGGCGGTGCTGGGCAGCGACGTGGAGTTCCACTGCAAGGTGTACAGTGACGCACAGCCCCACATCCAGTGGCTCAAGCACGTGGAGGTGAATGGCAGCAAGGTGGGCCCGGACGGCACACCCTACGTTACCGTGCTCAAGGTGGGCCACCGTGTGCACGTGGGTGCCGCCG... |
Task1_train_8221 | 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; Hypochondroplasia | GGGGGTGGGGGCGGCAGTGGCGGTGGTGGTGAGGGAGGGGGTGGCCCCTGAGCGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGGCGGGGCTGCCGGCCAACCAGACGGCGGTGCTGGGCAGCGACGTGGAGTTCCACTGCAAGGTGTACAGTGACGCACAGCCCCACATCCAGTGGCTCAAGCACGTGGAGGTGAATGGCAGCAAGGTGGGCCCGGACGGCACACCCTACGTTACCGTGCTCAAGGTGGGCCACCGTGTGCACGTGGGTGCCGCCGCTGGGGCTCCTGGGCTGGCCCCAAGGGT... | GGGGGTGGGGGCGGCAGTGGCGGTGGTGGTGAGGGAGGGGGTGGCCCCTGAGCGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGGCGGGGCTGCCGGCCAACCAGACGGCGGTGCTGGGCAGCGACGTGGAGTTCCACTGCAAGGTGTACAGTGACGCACAGCCCCACATCCAGTGGCTCAAGCACGTGGAGGTGAATGGCAGCAAGGTGGGCCCGGACGGCACACCCTACGTTACCGTGCTCAAGGTGGGCCACCGTGTGCACGTGGGTGCCGCCGCTGGGGCTCCTGGGCTGGCCCCAAGGGT... |
Task1_train_8222 | 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; Thanatophoric dysplasia type 1 | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... |
Task1_train_8223 | 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; Epidermal nevus | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... |
Task1_train_8224 | 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 | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... |
Task1_train_8225 | 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; Thanatophoric dysplasia, type 2 | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... |
Task1_train_8226 | 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; Camptodactyly-tall stature-scoliosis-hearing loss syndrome | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... |
Task1_train_8227 | 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; Achondroplasia | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... |
Task1_train_8228 | 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; Lacrimoauriculodentodigital syndrome 2 | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... |
Task1_train_8229 | Consider this mutation in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is this a benign change or a disease-causing variant? | Pathogenic; Colorectal cancer | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... |
Task1_train_8230 | 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; Muenke syndrome | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... |
Task1_train_8231 | 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; Germ cell tumor of testis | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... |
Task1_train_8232 | 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; Hypochondroplasia | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... |
Task1_train_8233 | 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; Malignant tumor of urinary bladder | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... |
Task1_train_8234 | Consider this mutation in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is this a benign change or a disease-causing variant? | Pathogenic; Crouzon syndrome-acanthosis nigricans syndrome | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... |
Task1_train_8235 | The gene FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... |
Task1_train_8236 | 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; Cervical cancer | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... |
Task1_train_8237 | 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; Achondroplasia | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... |
Task1_train_8238 | 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; Neoplasm | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... | AGTGGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTC... |
Task1_train_8239 | 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; Thanatophoric dysplasia type 1 | GGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGG... | GGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGG... |
Task1_train_8240 | 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; not specified | GGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGG... | GGTGCCCCAGGACAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGG... |
Task1_train_8241 | 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; not provided | CAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGG... | CAGGAGGGCAGTGTGGCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGG... |
Task1_train_8242 | 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; Hypochondroplasia | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8243 | Consider this mutation in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is this a benign change or a disease-causing variant? | Pathogenic; Connective tissue disorder | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8244 | 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; Achondroplasia | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8245 | 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; FGFR3-related disorder | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8246 | 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; Hypochondroplasia | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8247 | 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; Cervical cancer | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8248 | This sequence change occurs on Chromosome 4, altering FGFR3 (fibroblast growth factor receptor 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Camptodactyly-tall stature-scoliosis-hearing loss syndrome | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8249 | 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; Achondroplasia | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8250 | 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; Carcinoma of colon | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8251 | 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; Epidermal nevus | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8252 | 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; Muenke syndrome | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8253 | 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; Levy-Hollister syndrome | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8254 | Consider a variant on Chromosome 4 in gene FGFR3 (fibroblast growth factor receptor 3). Determine its clinical classification and disease relevance. | Pathogenic; Malignant tumor of testis | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8255 | The gene FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8256 | 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; Malignant tumor of urinary bladder | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8257 | 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; Thanatophoric dysplasia type 1 | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8258 | 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 | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8259 | 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; Crouzon syndrome-acanthosis nigricans syndrome | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8260 | 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; Inborn genetic diseases | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8261 | 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; Muenke syndrome | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8262 | 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 | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8263 | 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; Camptodactyly-tall stature-scoliosis-hearing loss syndrome | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8264 | 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; Germ cell tumor of testis | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8265 | 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; Colorectal cancer | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8266 | 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; Hypochondroplasia | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8267 | This variant affects gene FGFR3 (fibroblast growth factor receptor 3) located on Chromosome 4. Evaluate its biological effect and specify any disease association. | Pathogenic; Cervical cancer | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8268 | 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; Camptodactyly-tall stature-scoliosis-hearing loss syndrome | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8269 | 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; Achondroplasia | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8270 | 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; Lacrimoauriculodentodigital syndrome 2 | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8271 | 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; Epidermal nevus | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8272 | 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; Muenke syndrome | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8273 | 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; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8274 | Consider this mutation in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is this a benign change or a disease-causing variant? | Pathogenic; Malignant tumor of urinary bladder | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8275 | 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; Thanatophoric dysplasia type 1 | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8276 | 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; Thanatophoric dysplasia, type 2 | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8277 | A variant affecting Chromosome 4, within the gene FGFR3 (fibroblast growth factor receptor 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Crouzon syndrome-acanthosis nigricans syndrome | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8278 | 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; Hypochondroplasia | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8279 | 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; Colorectal cancer | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8280 | 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; Malignant tumor of urinary bladder | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8281 | 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 | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8282 | 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 | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8283 | 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; Camptodactyly-tall stature-scoliosis-hearing loss syndrome | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8284 | 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; Hypochondroplasia | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8285 | 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; Muenke syndrome | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8286 | The gene FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Achondroplasia | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8287 | 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; LADD syndrome 1 | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8288 | 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 | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8289 | 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; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8290 | 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; Epidermal nevus | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8291 | 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; Thanatophoric dysplasia type 1 | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8292 | Consider this mutation in FGFR3 (fibroblast growth factor receptor 3) on Chromosome 4. Is this a benign change or a disease-causing variant? | Pathogenic; Thanatophoric dysplasia, type 2 | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8293 | 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; Achondroplasia | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... | GCCAAGCCCTCCAGGCCCCCTCTGGGCCTCAGAGGCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAG... |
Task1_train_8294 | 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; Craniosynostosis syndrome | GCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAGAGCCCGGGGGAGGGCAGGCCAGTGACCAGAGGTT... | GCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAGAGCCCGGGGGAGGGCAGGCCAGTGACCAGAGGTT... |
Task1_train_8295 | 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; Crouzon syndrome-acanthosis nigricans syndrome | GCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAGAGCCCGGGGGAGGGCAGGCCAGTGACCAGAGGTT... | GCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAGAGCCCGGGGGAGGGCAGGCCAGTGACCAGAGGTT... |
Task1_train_8296 | 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; Inborn genetic diseases | GCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAGAGCCCGGGGGAGGGCAGGCCAGTGACCAGAGGTT... | GCGGTGGCTGAGCCCCGACCTGGCCGATTGGCTCTCGTCAGCTGTGTGCAGTGGGGCCCGAGCTCACTGTCTGCCCGCCTCCTGAAGCCCTTAGCTTTGTTCCCATGGCTGCCGGGTGGGGGCCACTGAATTGGGACGGTTGCGACACTCAAAGCCCAAAGAGAAACATCTGTTCAGAGAGAAGACGGTCTCTTGGGGGCGGGGAGCAGGCGCAGGGCGAGGGTGGAGTCCAGACCCCGCCCAGAGAGGCCGCCTCGGGCCCTGTCCAGGGTGCAGGTTCTGCAAGAGCCCGGGGGAGGGCAGGCCAGTGACCAGAGGTT... |
Task1_train_8297 | 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; FGFR3-related chondrodysplasia | TTTTCCTTGCAGCGGCTGGATCCTGCCGTGTGGACTCTGTGCGGTGCCCGCAGGGCGGTGCTGGCGCTCGCCTATCGCTCTGCTCTCTCTTTGTAGACGGCGGGCGCTAACACCACCGACAAGGAGCTAGAGGTTCTCTCCTTGCACAACGTCACCTTTGAGGACGCCGGGGAGTACACCTGCCTGGCGGGCAATTCTATTGGGTTTTCTCATCACTCTGCGTGGCTGGTGGTGCTGCCAGGTACCGGCTTCTGCTGCTGCTGCTGCTCCGCACTGTCTGGGGGACGCTGGCTCGGGACACGCCAAAGCTGCCAGGACGG... | TTTTCCTTGCAGCGGCTGGATCCTGCCGTGTGGACTCTGTGCGGTGCCCGCAGGGCGGTGCTGGCGCTCGCCTATCGCTCTGCTCTCTCTTTGTAGACGGCGGGCGCTAACACCACCGACAAGGAGCTAGAGGTTCTCTCCTTGCACAACGTCACCTTTGAGGACGCCGGGGAGTACACCTGCCTGGCGGGCAATTCTATTGGGTTTTCTCATCACTCTGCGTGGCTGGTGGTGCTGCCAGGTACCGGCTTCTGCTGCTGCTGCTGCTCCGCACTGTCTGGGGGACGCTGGCTCGGGACACGCCAAAGCTGCCAGGACGG... |
Task1_train_8298 | 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; Hypochondroplasia | TTTTCCTTGCAGCGGCTGGATCCTGCCGTGTGGACTCTGTGCGGTGCCCGCAGGGCGGTGCTGGCGCTCGCCTATCGCTCTGCTCTCTCTTTGTAGACGGCGGGCGCTAACACCACCGACAAGGAGCTAGAGGTTCTCTCCTTGCACAACGTCACCTTTGAGGACGCCGGGGAGTACACCTGCCTGGCGGGCAATTCTATTGGGTTTTCTCATCACTCTGCGTGGCTGGTGGTGCTGCCAGGTACCGGCTTCTGCTGCTGCTGCTGCTCCGCACTGTCTGGGGGACGCTGGCTCGGGACACGCCAAAGCTGCCAGGACGG... | TTTTCCTTGCAGCGGCTGGATCCTGCCGTGTGGACTCTGTGCGGTGCCCGCAGGGCGGTGCTGGCGCTCGCCTATCGCTCTGCTCTCTCTTTGTAGACGGCGGGCGCTAACACCACCGACAAGGAGCTAGAGGTTCTCTCCTTGCACAACGTCACCTTTGAGGACGCCGGGGAGTACACCTGCCTGGCGGGCAATTCTATTGGGTTTTCTCATCACTCTGCGTGGCTGGTGGTGCTGCCAGGTACCGGCTTCTGCTGCTGCTGCTGCTCCGCACTGTCTGGGGGACGCTGGCTCGGGACACGCCAAAGCTGCCAGGACGG... |
Task1_train_8299 | 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; Achondroplasia | TTTTCCTTGCAGCGGCTGGATCCTGCCGTGTGGACTCTGTGCGGTGCCCGCAGGGCGGTGCTGGCGCTCGCCTATCGCTCTGCTCTCTCTTTGTAGACGGCGGGCGCTAACACCACCGACAAGGAGCTAGAGGTTCTCTCCTTGCACAACGTCACCTTTGAGGACGCCGGGGAGTACACCTGCCTGGCGGGCAATTCTATTGGGTTTTCTCATCACTCTGCGTGGCTGGTGGTGCTGCCAGGTACCGGCTTCTGCTGCTGCTGCTGCTCCGCACTGTCTGGGGGACGCTGGCTCGGGACACGCCAAAGCTGCCAGGACGG... | TTTTCCTTGCAGCGGCTGGATCCTGCCGTGTGGACTCTGTGCGGTGCCCGCAGGGCGGTGCTGGCGCTCGCCTATCGCTCTGCTCTCTCTTTGTAGACGGCGGGCGCTAACACCACCGACAAGGAGCTAGAGGTTCTCTCCTTGCACAACGTCACCTTTGAGGACGCCGGGGAGTACACCTGCCTGGCGGGCAATTCTATTGGGTTTTCTCATCACTCTGCGTGGCTGGTGGTGCTGCCAGGTACCGGCTTCTGCTGCTGCTGCTGCTCCGCACTGTCTGGGGGACGCTGGCTCGGGACACGCCAAAGCTGCCAGGACGG... |
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