ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_7400 | Gene CASR (calcium sensing receptor), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Epilepsy, idiopathic generalized, susceptibility to, 8 | TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAA... | TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAA... |
Task1_train_7401 | A variant was discovered in gene CASR (calcium sensing receptor), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Neonatal severe primary hyperparathyroidism | TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAA... | TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAA... |
Task1_train_7402 | This variant impacts the gene CASR (calcium sensing receptor) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial hypocalciuric hypercalcemia | TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAA... | TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAA... |
Task1_train_7403 | Located on Chromosome 3, this mutation impacts CASR (calcium sensing receptor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Familial hypocalciuric hypercalcemia | TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAA... | TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAA... |
Task1_train_7404 | Mutation context: Chromosome 3, Gene CASR (calcium sensing receptor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autosomal dominant hypocalcemia 1 | TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAA... | TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAA... |
Task1_train_7405 | This is a variant in CASR (calcium sensing receptor), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Nephrolithiasis/nephrocalcinosis | TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAA... | TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAA... |
Task1_train_7406 | This mutation occurs in CASR (calcium sensing receptor) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Neonatal severe primary hyperparathyroidism | TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAA... | TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAA... |
Task1_train_7407 | This variant affects the gene CASR (calcium sensing receptor) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal dominant hypocalcemia 1 | TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAA... | TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAA... |
Task1_train_7408 | A sequence alteration has been identified in CASR (calcium sensing receptor) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Familial hypocalciuric hypercalcemia | TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAA... | TCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAA... |
Task1_train_7409 | Gene CASR (calcium sensing receptor) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Autosomal dominant hypocalcemia 1 | CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAAT... | CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAAT... |
Task1_train_7410 | A mutation found in CASR (calcium sensing receptor) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Familial hypocalciuric hypercalcemia | CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAAT... | CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAAT... |
Task1_train_7411 | Gene CASR (calcium sensing receptor), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal dominant hypocalcemia 1 | CATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAG... | CATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAG... |
Task1_train_7412 | Gene CASR (calcium sensing receptor), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Familial hypocalciuric hypercalcemia | CATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAG... | CATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTCTCTGGAAAAACTAGAGAACACAAGATATTAAGCTACTTCATTTCCTAGAAGAAATTCCATTTGTGTAAAAATGTTTCGTTCTTCAGAAAAAATGGTCCCATAACTTGGAACTTCCTAAGTGGTGAGCCATGATGACACAGAGTGCTGCAAATGAGCTGAAGCCGGCCTCATCAAAGATGTGGATCTCCTCAAGTGTTGGGGTGACCAGGTGGGGCCTGAGTGGTCAG... |
Task1_train_7413 | Given this context: Chromosome 3, gene CASR (calcium sensing receptor) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Familial hypocalciuric hypercalcemia | AACAAAAACCACATGACTATCTCAATAGACACAGAAAAGGCCTTCGATAAAATTCAACATCCCTTCATGTTAAAAACTCTAAATAAACTAGGTGTTGAAGGAACATACCTCGAAATAATAAAAGCCATTTATGACAAACCCACAGCCAATATCATACTGAAAAGGCAAAAGCTGGACGCATTCCCCTTGAAAACTGGCACAAGGATGCCCGCTCTCACCACTCTTATTCAACATAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCAAATAGGAAGAGAGGAAGCAACCATCATTC... | AACAAAAACCACATGACTATCTCAATAGACACAGAAAAGGCCTTCGATAAAATTCAACATCCCTTCATGTTAAAAACTCTAAATAAACTAGGTGTTGAAGGAACATACCTCGAAATAATAAAAGCCATTTATGACAAACCCACAGCCAATATCATACTGAAAAGGCAAAAGCTGGACGCATTCCCCTTGAAAACTGGCACAAGGATGCCCGCTCTCACCACTCTTATTCAACATAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCAAATAGGAAGAGAGGAAGCAACCATCATTC... |
Task1_train_7414 | Located on Chromosome 3, this mutation impacts CASR (calcium sensing receptor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal dominant hypocalcemia 1 | AACAAAAACCACATGACTATCTCAATAGACACAGAAAAGGCCTTCGATAAAATTCAACATCCCTTCATGTTAAAAACTCTAAATAAACTAGGTGTTGAAGGAACATACCTCGAAATAATAAAAGCCATTTATGACAAACCCACAGCCAATATCATACTGAAAAGGCAAAAGCTGGACGCATTCCCCTTGAAAACTGGCACAAGGATGCCCGCTCTCACCACTCTTATTCAACATAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCAAATAGGAAGAGAGGAAGCAACCATCATTC... | AACAAAAACCACATGACTATCTCAATAGACACAGAAAAGGCCTTCGATAAAATTCAACATCCCTTCATGTTAAAAACTCTAAATAAACTAGGTGTTGAAGGAACATACCTCGAAATAATAAAAGCCATTTATGACAAACCCACAGCCAATATCATACTGAAAAGGCAAAAGCTGGACGCATTCCCCTTGAAAACTGGCACAAGGATGCCCGCTCTCACCACTCTTATTCAACATAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCAAATAGGAAGAGAGGAAGCAACCATCATTC... |
Task1_train_7415 | Chromosome 3 houses a mutation in gene CASR (calcium sensing receptor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Familial hypocalciuric hypercalcemia 1 | ATGACTATCTCAATAGACACAGAAAAGGCCTTCGATAAAATTCAACATCCCTTCATGTTAAAAACTCTAAATAAACTAGGTGTTGAAGGAACATACCTCGAAATAATAAAAGCCATTTATGACAAACCCACAGCCAATATCATACTGAAAAGGCAAAAGCTGGACGCATTCCCCTTGAAAACTGGCACAAGGATGCCCGCTCTCACCACTCTTATTCAACATAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCAAATAGGAAGAGAGGAAGCAACCATCATTCTTTAATGGGGAA... | ATGACTATCTCAATAGACACAGAAAAGGCCTTCGATAAAATTCAACATCCCTTCATGTTAAAAACTCTAAATAAACTAGGTGTTGAAGGAACATACCTCGAAATAATAAAAGCCATTTATGACAAACCCACAGCCAATATCATACTGAAAAGGCAAAAGCTGGACGCATTCCCCTTGAAAACTGGCACAAGGATGCCCGCTCTCACCACTCTTATTCAACATAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCAAATAGGAAGAGAGGAAGCAACCATCATTCTTTAATGGGGAA... |
Task1_train_7416 | The following genetic variant occurs in CASR (calcium sensing receptor) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Autosomal dominant hypocalcemia 1 | TTGCTAATGCAGTGAATAATACTTATAGATTTGTCTAATATTAGACTTTTTTGCACTCCTGAGCATAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTC... | TTGCTAATGCAGTGAATAATACTTATAGATTTGTCTAATATTAGACTTTTTTGCACTCCTGAGCATAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTC... |
Task1_train_7417 | The gene CASR (calcium sensing receptor) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Familial hypocalciuric hypercalcemia | TTGCTAATGCAGTGAATAATACTTATAGATTTGTCTAATATTAGACTTTTTTGCACTCCTGAGCATAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTC... | TTGCTAATGCAGTGAATAATACTTATAGATTTGTCTAATATTAGACTTTTTTGCACTCCTGAGCATAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTC... |
Task1_train_7418 | A mutation found in CASR (calcium sensing receptor) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Familial hypocalciuric hypercalcemia 1 | TTGCTAATGCAGTGAATAATACTTATAGATTTGTCTAATATTAGACTTTTTTGCACTCCTGAGCATAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTC... | TTGCTAATGCAGTGAATAATACTTATAGATTTGTCTAATATTAGACTTTTTTGCACTCCTGAGCATAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTC... |
Task1_train_7419 | Gene CASR (calcium sensing receptor) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal dominant hypocalcemia | TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTAC... | TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTAC... |
Task1_train_7420 | A mutation found in CASR (calcium sensing receptor) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Familial hypocalciuric hypercalcemia 1 | TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTAC... | TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTAC... |
Task1_train_7421 | A mutation in CASR (calcium sensing receptor), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal dominant hypocalcemia 1 | TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTAC... | TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTAC... |
Task1_train_7422 | This variant affects gene CASR (calcium sensing receptor) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Epilepsy, idiopathic generalized, susceptibility to, 8 | TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTAC... | TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTAC... |
Task1_train_7423 | This is a variant in CASR (calcium sensing receptor), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Neonatal severe primary hyperparathyroidism | TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTAC... | TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTAC... |
Task1_train_7424 | Here is a genetic alteration in CASR (calcium sensing receptor) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Familial hypocalciuric hypercalcemia | TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTAC... | TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTAC... |
Task1_train_7425 | Consider this mutation in CASR (calcium sensing receptor) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal dominant hypocalcemia 1 | TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTAC... | TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTAC... |
Task1_train_7426 | Here is a genetic alteration in CASR (calcium sensing receptor) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Nephrolithiasis/nephrocalcinosis | TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTAC... | TAAACCCACCATGGTCATGATGCATTTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTAC... |
Task1_train_7427 | Located on Chromosome 3, this mutation impacts CASR (calcium sensing receptor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Nephrolithiasis/nephrocalcinosis | TTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTG... | TTTCTTTCTTATGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTG... |
Task1_train_7428 | The variant affects gene CASR (calcium sensing receptor), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal dominant hypocalcemia 1 | TGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCC... | TGTCCTTTGAGTCTGTTGTCTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCC... |
Task1_train_7429 | A variant affecting Chromosome 3, within the gene CASR (calcium sensing receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Familial hypocalciuric hypercalcemia | TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGA... | TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGA... |
Task1_train_7430 | This alteration in CASR (calcium sensing receptor) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal dominant hypocalcemia 1 | TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGA... | TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGA... |
Task1_train_7431 | Here’s a variant in CASR (calcium sensing receptor) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal dominant hypocalcemia | TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGA... | TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGA... |
Task1_train_7432 | Here’s a variant in CASR (calcium sensing receptor) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal dominant hypocalcemia 1 | TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGA... | TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGA... |
Task1_train_7433 | The gene CASR (calcium sensing receptor), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial hypocalciuric hypercalcemia | TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGA... | TTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGA... |
Task1_train_7434 | This mutation occurs in CASR (calcium sensing receptor) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Neonatal severe primary hyperparathyroidism | TTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGAC... | TTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGAC... |
Task1_train_7435 | This alteration in CASR (calcium sensing receptor) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal dominant hypocalcemia 1 | GAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGG... | GAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGG... |
Task1_train_7436 | Gene CASR (calcium sensing receptor), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal dominant hypocalcemia 1 | CTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAA... | CTCACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAA... |
Task1_train_7437 | A variant on Chromosome 3 in gene CASR (calcium sensing receptor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Familial hypocalciuric hypercalcemia | CACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAG... | CACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAG... |
Task1_train_7438 | The gene CASR (calcium sensing receptor), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial hypocalciuric hypercalcemia | CACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAG... | CACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAG... |
Task1_train_7439 | Gene CASR (calcium sensing receptor) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal dominant hypocalcemia 1 | CACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAG... | CACCTTTGTGCTGTCTGTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAG... |
Task1_train_7440 | A variant was discovered on Chromosome 3, affecting CASR (calcium sensing receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | GTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCAT... | GTGTCCTGATGGGGAGTATAGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCAT... |
Task1_train_7441 | Here is a variant affecting CASR (calcium sensing receptor) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal dominant hypocalcemia 1 | AGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCT... | AGTGATGAGACAGGTAAGGGAACCCCTCTTGGGCACTGTGCAGGGCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCT... |
Task1_train_7442 | A variant was discovered in gene CASR (calcium sensing receptor), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Autosomal dominant hypocalcemia 1 | GCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGG... | GCTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGG... |
Task1_train_7443 | A sequence alteration has been identified in CASR (calcium sensing receptor) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Familial hypocalciuric hypercalcemia | CTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGT... | CTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGT... |
Task1_train_7444 | A genetic alteration is present in CASR (calcium sensing receptor) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal dominant hypocalcemia 1 | CTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGT... | CTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGT... |
Task1_train_7445 | Assess the clinical impact of this variant on gene CASR (calcium sensing receptor), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Nephrolithiasis/nephrocalcinosis | CTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGT... | CTTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGT... |
Task1_train_7446 | Gene CASR (calcium sensing receptor), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | TTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTG... | TTGGTCCACTTCGGAGGCCTGGGGTCAGTGAAGCCCATGGAAGGGCTGGGCTGAGATGGTGCTTTGCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTG... |
Task1_train_7447 | A mutation on Chromosome 3 affecting CASR (calcium sensing receptor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal dominant hypocalcemia 1 | GCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAA... | GCACAGTTTCTCATTTAACAAAGGTATATCTGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAA... |
Task1_train_7448 | A change on Chromosome 3 affects gene CASR (calcium sensing receptor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Autosomal dominant hypocalcemia 1 | TGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTG... | TGAGCATCACAAAATGTTGGGCATGGAGGTGGAACAGAAAAAGAATGTTAGATGTTCTTTTAATACCATAAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTG... |
Task1_train_7449 | Given this variant in gene CASR (calcium sensing receptor) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal dominant hypocalcemia 1 | AAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTT... | AAAAGATAACAATACCTATTACACATCTTTCTCTTACTTCATATTGTCGGCCAATATATTTCCTTTTTGTTAGAGTTTAGTGGCCCTGCATGGACACAGTTATGTCTGCTCCAGACTCCAGAGTTAATAGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTT... |
Task1_train_7450 | A change on Chromosome 3 affects gene CASR (calcium sensing receptor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Familial hypocalciuric hypercalcemia | AGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAG... | AGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAG... |
Task1_train_7451 | A variant found in Chromosome 3 affects CASR (calcium sensing receptor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Autosomal dominant hypocalcemia 1 | AGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAG... | AGGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAG... |
Task1_train_7452 | Given this context: Chromosome 3, gene CASR (calcium sensing receptor) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Familial hypocalciuric hypercalcemia | GGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGA... | GGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGA... |
Task1_train_7453 | A variant was discovered in gene CASR (calcium sensing receptor), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Autosomal dominant hypocalcemia 1 | GGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGA... | GGCCATCATAGAATTGCCTGCTGGGTGCCTGGCACTGAATTTGCTATCTTACTTGTGTTTTTCCTGTTTCTCAGGTTATTTTTAGGTGGGAATAATAATTAAACCTATCCTATAGAATTTTGAGAATTAGATGATTAATATTGGTAATGCACATGGTAAGTTCTAGATAAATATTTGTTAAATAAAACTTTGGCATATTAGAAGTACTCTATAAATATTAACTATAGTTGATATTATCTCATGTTATCCTCACCCCAGTGATGGGGTTATTGCTGCTCCCATTTTATAAATTAGGAAACTGAGGCTCTGAGAGGTTAAGA... |
Task1_train_7454 | This alteration in ADCY5 (adenylate cyclase 5) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia | GCCTCCTGTGGCCGACGTCAGGATGGCAATGCAGAACTCAAAGGATGGAGCAGCAGAAGCACGGGACAGACTCAGGCTTGGCAGTTTTGGGTCCACACACTTTGCTTCTCAGAGCTGTGTTCAGTTGGTGTGCGGGGAGGGGAGGGTGGTGCTAGAGCCCAGTGAGAGGTGGTACAGGTGGACATCAAAGTCACATTGTGGCAGCTGGCACAGAGCCACTGCCTCATCACCTCCAAGCTCATGTTGGAGGTGAAGATCATTCTAACCTGAGAAGCAATGGAAAGATTTGGGCATGGGCCCTAAGGATTCCACTGAATTCT... | GCCTCCTGTGGCCGACGTCAGGATGGCAATGCAGAACTCAAAGGATGGAGCAGCAGAAGCACGGGACAGACTCAGGCTTGGCAGTTTTGGGTCCACACACTTTGCTTCTCAGAGCTGTGTTCAGTTGGTGTGCGGGGAGGGGAGGGTGGTGCTAGAGCCCAGTGAGAGGTGGTACAGGTGGACATCAAAGTCACATTGTGGCAGCTGGCACAGAGCCACTGCCTCATCACCTCCAAGCTCATGTTGGAGGTGAAGATCATTCTAACCTGAGAAGCAATGGAAAGATTTGGGCATGGGCCCTAAGGATTCCACTGAATTCT... |
Task1_train_7455 | This mutation occurs in ADCY5 (adenylate cyclase 5) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Dyskinesia with orofacial involvement, autosomal dominant | CTTTTAAATAAAACAACGCGGTTAGGTCAGTATTACTCGAAACAAATGGGACTGCCATCTGCTGTGCTACAACCACCAGAAGGCCCCATGCCCTCGGCACAGAGCATCCCCCACAAAGCCCTTCGAGCAGGCACAGCCTGGGTCCCACCAGGCCGGCCCTGCATCTGAGTGAGGTGGGAACTCACCAAGGGGTGTCCTACCCATGTGGCCCTCATGTCAAAAGGCAGCAGAGGCATCGCCAGGCTCTGGGCGGATTCCGCTGTGAATGACCCATGCCTGCCCCCACCTACTAAGGGCAGGGAACACACCACATCAGCCTC... | CTTTTAAATAAAACAACGCGGTTAGGTCAGTATTACTCGAAACAAATGGGACTGCCATCTGCTGTGCTACAACCACCAGAAGGCCCCATGCCCTCGGCACAGAGCATCCCCCACAAAGCCCTTCGAGCAGGCACAGCCTGGGTCCCACCAGGCCGGCCCTGCATCTGAGTGAGGTGGGAACTCACCAAGGGGTGTCCTACCCATGTGGCCCTCATGTCAAAAGGCAGCAGAGGCATCGCCAGGCTCTGGGCGGATTCCGCTGTGAATGACCCATGCCTGCCCCCACCTACTAAGGGCAGGGAACACACCACATCAGCCTC... |
Task1_train_7456 | Here is a genetic alteration in ADCY5 (adenylate cyclase 5) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Dyskinesia with orofacial involvement, autosomal dominant | ACCTAGGACAATTTGAGCATTAAAATACATAGTGAGGGTTGCAGACGATAACCCACTGGATTACATGGGAATCTGCGAGTCCAGGCTGAGGTAGAGAAGTGAATAAATAAGCAAATCAATGGAGGAGGAGGGACAGCTCTTCTGTGCAGTAGAATGCCAACCAGCAAGTCCAGAAGGAATGGCGGACACTGGGCATTGCTATCGGGCATTTCCACAGCAGGCACTGAGACAAGCAGGAGCCACCAATGGATGCAAAGGCTGCTGGGCAGAGATTTGCTGAGGATCAGAAAATTAGTGGAATATCAGACTCTCTTTCCATA... | ACCTAGGACAATTTGAGCATTAAAATACATAGTGAGGGTTGCAGACGATAACCCACTGGATTACATGGGAATCTGCGAGTCCAGGCTGAGGTAGAGAAGTGAATAAATAAGCAAATCAATGGAGGAGGAGGGACAGCTCTTCTGTGCAGTAGAATGCCAACCAGCAAGTCCAGAAGGAATGGCGGACACTGGGCATTGCTATCGGGCATTTCCACAGCAGGCACTGAGACAAGCAGGAGCCACCAATGGATGCAAAGGCTGCTGGGCAGAGATTTGCTGAGGATCAGAAAATTAGTGGAATATCAGACTCTCTTTCCATA... |
Task1_train_7457 | Here is a genetic alteration in ADCY5 (adenylate cyclase 5) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | ATCAATGGAGGAGGAGGGACAGCTCTTCTGTGCAGTAGAATGCCAACCAGCAAGTCCAGAAGGAATGGCGGACACTGGGCATTGCTATCGGGCATTTCCACAGCAGGCACTGAGACAAGCAGGAGCCACCAATGGATGCAAAGGCTGCTGGGCAGAGATTTGCTGAGGATCAGAAAATTAGTGGAATATCAGACTCTCTTTCCATAAAGTGCTAGTCAAATACAAAGGGGGAAAAGGGGACATGACAGTGGAGAAATCTGGCAGATGCTGGTTGAGCAGGCCATCAGGGCTGACATCACCGGTGGTGGGATGGGTCAACA... | ATCAATGGAGGAGGAGGGACAGCTCTTCTGTGCAGTAGAATGCCAACCAGCAAGTCCAGAAGGAATGGCGGACACTGGGCATTGCTATCGGGCATTTCCACAGCAGGCACTGAGACAAGCAGGAGCCACCAATGGATGCAAAGGCTGCTGGGCAGAGATTTGCTGAGGATCAGAAAATTAGTGGAATATCAGACTCTCTTTCCATAAAGTGCTAGTCAAATACAAAGGGGGAAAAGGGGACATGACAGTGGAGAAATCTGGCAGATGCTGGTTGAGCAGGCCATCAGGGCTGACATCACCGGTGGTGGGATGGGTCAACA... |
Task1_train_7458 | A variant was discovered on Chromosome 3, affecting ADCY5 (adenylate cyclase 5). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Dyskinesia with orofacial involvement, autosomal dominant | GCCTGGGCAACAGAGCGAGACGCTGTGTCCCCACCACGCCGACCCAAAAAAAAAAAAAAAAGAAGCATCTTTCATGCAGCTGTGCAGCGCCTAGTGAGAGTTGCCCACCCTGGAATGAGCACATCACCTTCCCGCCCAGAGAGGTCAGACCCCTGGCTTCCTACCCCACCAAGGGCACACTCAGAAACTTCTCTCCGTGCCTGAGCAAGTGCAGGCCAGACTCCCTGCTCTGTTCTCCTAAATGACCACCCCCTCCCACTCCTGGGATTCCCTGCAGCCAGAGGAAGGAGCCCAAGAGGGACGGGGATACTCACTGGGGC... | GCCTGGGCAACAGAGCGAGACGCTGTGTCCCCACCACGCCGACCCAAAAAAAAAAAAAAAAGAAGCATCTTTCATGCAGCTGTGCAGCGCCTAGTGAGAGTTGCCCACCCTGGAATGAGCACATCACCTTCCCGCCCAGAGAGGTCAGACCCCTGGCTTCCTACCCCACCAAGGGCACACTCAGAAACTTCTCTCCGTGCCTGAGCAAGTGCAGGCCAGACTCCCTGCTCTGTTCTCCTAAATGACCACCCCCTCCCACTCCTGGGATTCCCTGCAGCCAGAGGAAGGAGCCCAAGAGGGACGGGGATACTCACTGGGGC... |
Task1_train_7459 | The variant affects gene ADCY5 (adenylate cyclase 5), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | TGTCAAGGAAACCATGAGGAGCTGTCCCCACAGGGCCCTGAATCCCCCATCCCTCTTCCTGGTGCCTGTGGAGGGTCTGACACAGCTCCCATGAAGGGCCCCCGAGCCAGGATCTGTCCCCTGGGGTACTGCATGGTAGGATAAGGTGTCCCTCTGATGTCCCTCTTGGCACGGGCACCTGCCCTCAACAGCCCTGCCTGCCTCCCTTTAAAAATCACCTTTGCTGTCATCCAAGACTCTCTGAACTCTTCTCACAGACTAATTTTGTCTTTCGTTTCACTTCTTAGGAAGAGAAATGGGGAAGCTTTTCTCTATCAAAG... | TGTCAAGGAAACCATGAGGAGCTGTCCCCACAGGGCCCTGAATCCCCCATCCCTCTTCCTGGTGCCTGTGGAGGGTCTGACACAGCTCCCATGAAGGGCCCCCGAGCCAGGATCTGTCCCCTGGGGTACTGCATGGTAGGATAAGGTGTCCCTCTGATGTCCCTCTTGGCACGGGCACCTGCCCTCAACAGCCCTGCCTGCCTCCCTTTAAAAATCACCTTTGCTGTCATCCAAGACTCTCTGAACTCTTCTCACAGACTAATTTTGTCTTTCGTTTCACTTCTTAGGAAGAGAAATGGGGAAGCTTTTCTCTATCAAAG... |
Task1_train_7460 | An alteration has been detected in ADCY5 (adenylate cyclase 5) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Inborn genetic diseases | GCTGCCAGCCTCTCCTCCACTCCTGGAGTCTGCAGAGCCCTCCCCTCCCACACACTTCCTCTGGGAAAAGCTGCCCAGGCTGCTGTAGGGAACAGGAACCCTGGAGAAGGCAGAAAGTCTGGTGGCACACGCCAACCCTCAGCTTGGCTGGGCACCTTTTGGCAGACAGTTTCACCCCACTGTTTCCCTGCCTCCAACTAGGCAGCCGGCAGGTCAGTCAGTCGCTCGGGCTGTGGACAGTCCCAGGGAGGGAGACGGTACCCGGGGGGTGGACACTTACGAGATGGCCTCGATCATGTCCATGCCCATCTCCACACAGC... | GCTGCCAGCCTCTCCTCCACTCCTGGAGTCTGCAGAGCCCTCCCCTCCCACACACTTCCTCTGGGAAAAGCTGCCCAGGCTGCTGTAGGGAACAGGAACCCTGGAGAAGGCAGAAAGTCTGGTGGCACACGCCAACCCTCAGCTTGGCTGGGCACCTTTTGGCAGACAGTTTCACCCCACTGTTTCCCTGCCTCCAACTAGGCAGCCGGCAGGTCAGTCAGTCGCTCGGGCTGTGGACAGTCCCAGGGAGGGAGACGGTACCCGGGGGGTGGACACTTACGAGATGGCCTCGATCATGTCCATGCCCATCTCCACACAGC... |
Task1_train_7461 | A sequence alteration has been identified in ADCY5 (adenylate cyclase 5) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Dyskinesia with orofacial involvement, autosomal dominant | GTAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAA... | GTAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAA... |
Task1_train_7462 | Assess the clinical impact of this variant on gene ADCY5 (adenylate cyclase 5), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Neurodevelopmental delay | GTAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAA... | GTAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAA... |
Task1_train_7463 | This mutation occurs in ADCY5 (adenylate cyclase 5) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; See cases | GTAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAA... | GTAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAA... |
Task1_train_7464 | This variant affects gene ADCY5 (adenylate cyclase 5) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Dyskinesia with orofacial involvement, autosomal dominant | TAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAAA... | TAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAAA... |
Task1_train_7465 | This genomic variant is located on Chromosome 3, within the ADCY5 (adenylate cyclase 5) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Inborn genetic diseases | TAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAAA... | TAAATAGTTACTGGTGATAGAAATAGGAATTAAAAGACAGTGTGGGATGACTGGGAGAGACCGTGCTACAAACCGTTTGGCTTCATGAGAGGCCCTCCTACATTTACAACCACCTCTGGGGCTGAGGGCCAGGAGGGGTGGGCAGGGGGCCGCTGAGGAACAATTCTGAGCCCACTCATCACAGGGCACCTAGAAGCTTCCCCCAGGGAGCCCCAGCAGCTCTTTCTGCACGCCTTGCTGGCTATGGCCGGTTGAGAAGCACCTGTCTGCAGAAAGCTTCCCCTCCTCAGCACATTGGCTCCGAATATGGAATGGCAAAA... |
Task1_train_7466 | A mutation in ADCY5 (adenylate cyclase 5), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Dyskinesia with orofacial involvement, autosomal dominant | CTGTGCTTAGGTAAGGGTGAGAGAATAGAGGAGGAAAAACACATACACCTTGGGATTTGTGCATCCATGGAGGTTACACTGGACAGACAGCAAAACAAGTGGACACTGGAAAATGAATAAGTGCTCCACTCTGTGCCTCTGACTCTATTGTTAATCATACAGAAGACCACGAGGTCAGTGTGGCTGGAATGGAAGAAGAAGGTTCCTTGCAGGGGTACAGCTTGGGGCAGAGGACGTTAGAAGTGGAAGGGACATAAACATTCCTCTCATTCTCTAGAAAAGGTAGCAAAGGCCCAGAGAGCTTGTGTGTCCCCTCCGTC... | CTGTGCTTAGGTAAGGGTGAGAGAATAGAGGAGGAAAAACACATACACCTTGGGATTTGTGCATCCATGGAGGTTACACTGGACAGACAGCAAAACAAGTGGACACTGGAAAATGAATAAGTGCTCCACTCTGTGCCTCTGACTCTATTGTTAATCATACAGAAGACCACGAGGTCAGTGTGGCTGGAATGGAAGAAGAAGGTTCCTTGCAGGGGTACAGCTTGGGGCAGAGGACGTTAGAAGTGGAAGGGACATAAACATTCCTCTCATTCTCTAGAAAAGGTAGCAAAGGCCCAGAGAGCTTGTGTGTCCCCTCCGTC... |
Task1_train_7467 | A genomic change on Chromosome 3 affects MYLK (myosin light chain kinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Aortic aneurysm, familial thoracic 7 | GAACTACTATTGCCTTTCCTAAGGAACACATACGGAAAGGAAATACTTGTGTGCCAGAATGTTAATGGCATGAGGGGAGAGAAAAGACTAATATTCCACTCATATCTACAGCTTGGGGATGTCTTACTGGACTCAACTTTCCTGGGAGAGAATTCCAAGATGCTAACAGAGCCCTCACCAAAGGACAGAGACCCCCCAAGTTCAGGATGAGCATTTCAAGGATGTTGAAAGCAATTTCACAATATCTCTAAAGATTTCAAATGTGCATACCCTTTAACCCAGCTCTCCTTCACTTCTGGGAGTTTATCCTATAGATATTC... | GAACTACTATTGCCTTTCCTAAGGAACACATACGGAAAGGAAATACTTGTGTGCCAGAATGTTAATGGCATGAGGGGAGAGAAAAGACTAATATTCCACTCATATCTACAGCTTGGGGATGTCTTACTGGACTCAACTTTCCTGGGAGAGAATTCCAAGATGCTAACAGAGCCCTCACCAAAGGACAGAGACCCCCCAAGTTCAGGATGAGCATTTCAAGGATGTTGAAAGCAATTTCACAATATCTCTAAAGATTTCAAATGTGCATACCCTTTAACCCAGCTCTCCTTCACTTCTGGGAGTTTATCCTATAGATATTC... |
Task1_train_7468 | A change on Chromosome 3 affects gene UMPS (uridine monophosphate synthetase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Oroticaciduria | AACAGCACATACTTTCCCAGTATGTTTGTATTTAAACTTCATGAAAAGTAATCCATGGATAAAATTACTCTCATAAAGCAGTGTAAACACCTCAGAGAGATATTTTTGTGGGTTCATGGCAATAGATTATCAGGTGACTTGCTTTAAAACCCGAAAATTTGTCCAGGCACCATGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGTAGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACGTGGTAAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTATGCACCTG... | AACAGCACATACTTTCCCAGTATGTTTGTATTTAAACTTCATGAAAAGTAATCCATGGATAAAATTACTCTCATAAAGCAGTGTAAACACCTCAGAGAGATATTTTTGTGGGTTCATGGCAATAGATTATCAGGTGACTTGCTTTAAAACCCGAAAATTTGTCCAGGCACCATGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGTAGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACGTGGTAAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTATGCACCTG... |
Task1_train_7469 | A variant has been detected on Chromosome 3 in UROC1 (urocanate hydratase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Urocanate hydratase deficiency | TTCACAGACACCTTCACTGCAGGAGAGAGGACAGCAGGCGTCAGAGACCCTCCAGGGGCACAGACCTGCCCTCAGGCAGGCTGCTCAGCTCAGCACAGACCCTGCCCCGAGCCCACCACTGAGCTAGGACACAAGGTGAGGGAGCCCACCCCACCCCACCCCTGCCTTTGTGAACTTGGGGACCAGCAGTGCCAGTGGCCCCATGAATTAATAATGCACAGCCGTGCAGCGCACTGCCTGATGCACTCGGTCCCTCCACAAATAGCTATTCAGTGCCTACTATACACCAACACTGAGCAAGGCACCAGGAACAAAGACCG... | TTCACAGACACCTTCACTGCAGGAGAGAGGACAGCAGGCGTCAGAGACCCTCCAGGGGCACAGACCTGCCCTCAGGCAGGCTGCTCAGCTCAGCACAGACCCTGCCCCGAGCCCACCACTGAGCTAGGACACAAGGTGAGGGAGCCCACCCCACCCCACCCCTGCCTTTGTGAACTTGGGGACCAGCAGTGCCAGTGGCCCCATGAATTAATAATGCACAGCCGTGCAGCGCACTGCCTGATGCACTCGGTCCCTCCACAAATAGCTATTCAGTGCCTACTATACACCAACACTGAGCAAGGCACCAGGAACAAAGACCG... |
Task1_train_7470 | A mutation in UROC1 (urocanate hydratase 1), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Urocanate hydratase deficiency | GCTTGGGGTCAGGGGCAGATCTGGGTCTGGGGTCACTCTGGGAACTCAGCCTGGGGTCAAAGGCAGGGTTGATCTGTGACCAGGGTCTGGGGCCAGGGCCAGGGTTTAGGGCGTTTCCACCTACTAGGCGAAGTGGTCACATTCTGGCAACATATCACCCCCAAGGAATGCAGGGACACACCCCAGAGGCATTCCATTCTCAAATATGGGCAGCTGCTCTATAGACTGGCTCAGGGTGCCCAAGACAGGCACATGGGGCCAGATCCATGCTACCCAATATGGTGGCCACCAGTCATGAGTGGCTTTTCAGCTCTGCTCCT... | GCTTGGGGTCAGGGGCAGATCTGGGTCTGGGGTCACTCTGGGAACTCAGCCTGGGGTCAAAGGCAGGGTTGATCTGTGACCAGGGTCTGGGGCCAGGGCCAGGGTTTAGGGCGTTTCCACCTACTAGGCGAAGTGGTCACATTCTGGCAACATATCACCCCCAAGGAATGCAGGGACACACCCCAGAGGCATTCCATTCTCAAATATGGGCAGCTGCTCTATAGACTGGCTCAGGGTGCCCAAGACAGGCACATGGGGCCAGATCCATGCTACCCAATATGGTGGCCACCAGTCATGAGTGGCTTTTCAGCTCTGCTCCT... |
Task1_train_7471 | A mutation found in PLXNA1 (plexin A1) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; PLXNA1-related disorder | TTTCCACGGCCTGGGTGCTGCCCCTCCCCTCCTGTGCCTAGGCCAGCTCCAGGGCTCCCTGGCTCACCTTGGGCTGTGCCTGAGAAACCTGGAAGTACTGGCTCTGAAGTGCAGCTCCCGGGCATGCGGGCTCCTAGTCTGGGGAACTGTCTGTGGGGGTAAGCAGGCCAAGTGGGGCCTGTCCCCATGTGGCCCGAGGGGGACTTTCCTGAGAGTTTCAGCAAGTTCCCTCTTCCTGCAGACACCAACCTTCTACCGTGTGAGCCCCTCCCGTGGGCCTCTGTCAGGGGGCACCTGGATTGGCATCGAGGGAAGCCACC... | TTTCCACGGCCTGGGTGCTGCCCCTCCCCTCCTGTGCCTAGGCCAGCTCCAGGGCTCCCTGGCTCACCTTGGGCTGTGCCTGAGAAACCTGGAAGTACTGGCTCTGAAGTGCAGCTCCCGGGCATGCGGGCTCCTAGTCTGGGGAACTGTCTGTGGGGGTAAGCAGGCCAAGTGGGGCCTGTCCCCATGTGGCCCGAGGGGGACTTTCCTGAGAGTTTCAGCAAGTTCCCTCTTCCTGCAGACACCAACCTTCTACCGTGTGAGCCCCTCCCGTGGGCCTCTGTCAGGGGGCACCTGGATTGGCATCGAGGGAAGCCACC... |
Task1_train_7472 | Here is a mutation in PLXNA1 (plexin A1) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Dworschak-Punetha neurodevelopmental syndrome | TTTCCACGGCCTGGGTGCTGCCCCTCCCCTCCTGTGCCTAGGCCAGCTCCAGGGCTCCCTGGCTCACCTTGGGCTGTGCCTGAGAAACCTGGAAGTACTGGCTCTGAAGTGCAGCTCCCGGGCATGCGGGCTCCTAGTCTGGGGAACTGTCTGTGGGGGTAAGCAGGCCAAGTGGGGCCTGTCCCCATGTGGCCCGAGGGGGACTTTCCTGAGAGTTTCAGCAAGTTCCCTCTTCCTGCAGACACCAACCTTCTACCGTGTGAGCCCCTCCCGTGGGCCTCTGTCAGGGGGCACCTGGATTGGCATCGAGGGAAGCCACC... | TTTCCACGGCCTGGGTGCTGCCCCTCCCCTCCTGTGCCTAGGCCAGCTCCAGGGCTCCCTGGCTCACCTTGGGCTGTGCCTGAGAAACCTGGAAGTACTGGCTCTGAAGTGCAGCTCCCGGGCATGCGGGCTCCTAGTCTGGGGAACTGTCTGTGGGGGTAAGCAGGCCAAGTGGGGCCTGTCCCCATGTGGCCCGAGGGGGACTTTCCTGAGAGTTTCAGCAAGTTCCCTCTTCCTGCAGACACCAACCTTCTACCGTGTGAGCCCCTCCCGTGGGCCTCTGTCAGGGGGCACCTGGATTGGCATCGAGGGAAGCCACC... |
Task1_train_7473 | This mutation is located in gene MCM2 (minichromosome maintenance complex component 2) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 70 | CACCCTGCTCAAAATGCTTCCATGGCCTTCCATTGCTTTCAGAATACAGAATAGTCAAACTCTCTAGAAAAACATCTAGCTCTTTTTTGATCCGGATTTTCTCTCCCTCAAGTCTTGTCTGTTGCCCGGCATCATAAGCTCCTAGGGTTAGTTCTTAGGGAGGGGCTTGCACATCCGGGCCCTGCCATGACCTCTGCAGCTTTGCACATGGCATCCTTCTATCTGTAACATCCTCCCTGCGTCTTCGCTCCCCTGGGCAAAGATAACTCCTACTAAAGCCTCAGATGTGACCTCCTACAAAATCCCAGAGTTGTCCAGCT... | CACCCTGCTCAAAATGCTTCCATGGCCTTCCATTGCTTTCAGAATACAGAATAGTCAAACTCTCTAGAAAAACATCTAGCTCTTTTTTGATCCGGATTTTCTCTCCCTCAAGTCTTGTCTGTTGCCCGGCATCATAAGCTCCTAGGGTTAGTTCTTAGGGAGGGGCTTGCACATCCGGGCCCTGCCATGACCTCTGCAGCTTTGCACATGGCATCCTTCTATCTGTAACATCCTCCCTGCGTCTTCGCTCCCCTGGGCAAAGATAACTCCTACTAAAGCCTCAGATGTGACCTCCTACAAAATCCCAGAGTTGTCCAGCT... |
Task1_train_7474 | This sequence change occurs on Chromosome 3, altering SEC61A1 (SEC61 translocon subunit alpha 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hyperuricemic nephropathy, familial juvenile type 4 | GCCCATGTGCTGCTTTTAATGGACGAATTTGTAAAGCTTTACCCCCTCAATTCCAGTGTAGCGAAGGGGCATGGCTCTGGAGGCAGGCAAGCCTAGGTCCCACCCTTTACATAGCACCTTAATAGCTATGTGACCTTGGCCTTGTAACTCAGTGTGGTAGACGGAACAAGGGAAATACGTGCAAGGTATAGCAGTGGCTCAGGAAGGGATTAACTCTGGGAGACATGATGTCTTATGGTGGTTTTGAAGGAGAAATAGAAGTCTCCTTGAAGGGACGGAAAGGAATTCCAAATAAAAGGAGTATATAGTTTGCAAAGGCA... | GCCCATGTGCTGCTTTTAATGGACGAATTTGTAAAGCTTTACCCCCTCAATTCCAGTGTAGCGAAGGGGCATGGCTCTGGAGGCAGGCAAGCCTAGGTCCCACCCTTTACATAGCACCTTAATAGCTATGTGACCTTGGCCTTGTAACTCAGTGTGGTAGACGGAACAAGGGAAATACGTGCAAGGTATAGCAGTGGCTCAGGAAGGGATTAACTCTGGGAGACATGATGTCTTATGGTGGTTTTGAAGGAGAAATAGAAGTCTCCTTGAAGGGACGGAAAGGAATTCCAAATAAAAGGAGTATATAGTTTGCAAAGGCA... |
Task1_train_7475 | Given a variant located on Chromosome 3 and affecting SEC61A1 (SEC61 translocon subunit alpha 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hyperuricemic nephropathy, familial juvenile type 4 | TTTAATGGACGAATTTGTAAAGCTTTACCCCCTCAATTCCAGTGTAGCGAAGGGGCATGGCTCTGGAGGCAGGCAAGCCTAGGTCCCACCCTTTACATAGCACCTTAATAGCTATGTGACCTTGGCCTTGTAACTCAGTGTGGTAGACGGAACAAGGGAAATACGTGCAAGGTATAGCAGTGGCTCAGGAAGGGATTAACTCTGGGAGACATGATGTCTTATGGTGGTTTTGAAGGAGAAATAGAAGTCTCCTTGAAGGGACGGAAAGGAATTCCAAATAAAAGGAGTATATAGTTTGCAAAGGCATTGGTGACAAGAGT... | TTTAATGGACGAATTTGTAAAGCTTTACCCCCTCAATTCCAGTGTAGCGAAGGGGCATGGCTCTGGAGGCAGGCAAGCCTAGGTCCCACCCTTTACATAGCACCTTAATAGCTATGTGACCTTGGCCTTGTAACTCAGTGTGGTAGACGGAACAAGGGAAATACGTGCAAGGTATAGCAGTGGCTCAGGAAGGGATTAACTCTGGGAGACATGATGTCTTATGGTGGTTTTGAAGGAGAAATAGAAGTCTCCTTGAAGGGACGGAAAGGAATTCCAAATAAAAGGAGTATATAGTTTGCAAAGGCATTGGTGACAAGAGT... |
Task1_train_7476 | Gene SEC61A1 (SEC61 translocon subunit alpha 1), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hyperuricemic nephropathy, familial juvenile type 4 | AAAAATTAGGATTCTAAAATACACACATGTGGCTGGGAGCGGTGGCTCATACTTGTATCCCAGCACTTTGGGAGGCCAAGGCAGGATGATTGCTTGAGGCCAGGAGTTCGTGACTAGCCTGGGTAACACAGTGAGAGAGACCCCATCTCTACAAAACAACAACAACAAATTAGCCAAGTGTGGTGATGCACCTGTAGTTCTAGCTACTAGGGAGGCTGAGGTGGGAGGATCACTTAAGCCCAGGAGTTTGAGGCTGCTAGTGCACCACTGCACTCCTGCCCGGGCAACAGAGCCTGTCTCTTAAAACAAAACAAAAAACA... | AAAAATTAGGATTCTAAAATACACACATGTGGCTGGGAGCGGTGGCTCATACTTGTATCCCAGCACTTTGGGAGGCCAAGGCAGGATGATTGCTTGAGGCCAGGAGTTCGTGACTAGCCTGGGTAACACAGTGAGAGAGACCCCATCTCTACAAAACAACAACAACAAATTAGCCAAGTGTGGTGATGCACCTGTAGTTCTAGCTACTAGGGAGGCTGAGGTGGGAGGATCACTTAAGCCCAGGAGTTTGAGGCTGCTAGTGCACCACTGCACTCCTGCCCGGGCAACAGAGCCTGTCTCTTAAAACAAAACAAAAAACA... |
Task1_train_7477 | Gene GATA2 (GATA binding protein 2), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Deafness-lymphedema-leukemia syndrome | CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGT... | CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGT... |
Task1_train_7478 | Mutation context: Chromosome 3, Gene GATA2 (GATA binding protein 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; GATA2 deficiency with susceptibility to MDS/AML | CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGT... | CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGT... |
Task1_train_7479 | The variant affects gene GATA2 (GATA binding protein 2), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Deafness-lymphedema-leukemia syndrome | CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGT... | CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGT... |
Task1_train_7480 | Gene GATA2 (GATA binding protein 2) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Monocytopenia with susceptibility to infections | CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGT... | CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGT... |
Task1_train_7481 | This alteration in GATA2 (GATA binding protein 2) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Inborn genetic diseases | CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGT... | CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGT... |
Task1_train_7482 | Located on Chromosome 3, this mutation impacts GATA2 (GATA binding protein 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Leukemia, acute myeloid, susceptibility to | CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGT... | CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGT... |
Task1_train_7483 | Gene GATA2 (GATA binding protein 2) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Monocytopenia with susceptibility to infections | CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGT... | CAGGAAATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGT... |
Task1_train_7484 | The gene GATA2 (GATA binding protein 2) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Deafness-lymphedema-leukemia syndrome | AATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACT... | AATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACT... |
Task1_train_7485 | This alteration in GATA2 (GATA binding protein 2) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; GATA2 deficiency with susceptibility to MDS/AML | AATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACT... | AATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACT... |
Task1_train_7486 | Here’s a variant in GATA2 (GATA binding protein 2) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Deafness-lymphedema-leukemia syndrome | AATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACT... | AATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACT... |
Task1_train_7487 | A variant on Chromosome 3 in gene GATA2 (GATA binding protein 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Monocytopenia with susceptibility to infections | AATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACT... | AATCCAGATGGGAGCAGTTCAGGGGAGGAGCCTCGGGACGTCAGTGGCAAAATCAGACCCAGGCCCAACAGAGGCCCCATCCTGGATTCCAGGGGCTTTCCCCTCGCAGCCACCCCGGCGACAAAAGCAATGCAATCTGGCTGCCCAAATTCACACCCGGGACCCAGCACCCTGGGAGCCCACAAGACAGGCCAGGGGCATTCACAAAAAGTATTTTATTATTCTTAACAGTACTCACTTTAAAGGAATAAGAGGATAGCATACATTTTTTACAGACAATATATAAATGTTGTACATAATTAACAATAACTTAGTTCACT... |
Task1_train_7488 | A variant has been detected on Chromosome 3 in GATA2 (GATA binding protein 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Deafness-lymphedema-leukemia syndrome | CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGC... | CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGC... |
Task1_train_7489 | Assess the clinical impact of this variant on gene GATA2 (GATA binding protein 2), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; GATA2 deficiency with susceptibility to MDS/AML | CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGC... | CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGC... |
Task1_train_7490 | Here is a genetic alteration in GATA2 (GATA binding protein 2) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Inborn genetic diseases | CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGC... | CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGC... |
Task1_train_7491 | Given this variant in gene GATA2 (GATA binding protein 2) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; GATA2 deficiency with susceptibility to MDS/AML | CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGC... | CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGC... |
Task1_train_7492 | The gene GATA2 (GATA binding protein 2), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Deafness-lymphedema-leukemia syndrome | CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGC... | CTGGACCTGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGC... |
Task1_train_7493 | Here is a genetic alteration in GATA2 (GATA binding protein 2) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; GATA2 deficiency with susceptibility to MDS/AML | AGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATT... | AGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATT... |
Task1_train_7494 | This genomic variant is located on Chromosome 3, within the GATA2 (GATA binding protein 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Deafness-lymphedema-leukemia syndrome | AGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATT... | AGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATT... |
Task1_train_7495 | A genetic alteration is present in GATA2 (GATA binding protein 2) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Deafness-lymphedema-leukemia syndrome | GGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTT... | GGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTT... |
Task1_train_7496 | The gene GATA2 (GATA binding protein 2), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; GATA2 deficiency with susceptibility to MDS/AML | GGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTT... | GGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTT... |
Task1_train_7497 | An alteration has been detected in GATA2 (GATA binding protein 2) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Monocytopenia with susceptibility to infections | GGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTT... | GGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTT... |
Task1_train_7498 | Here is a variant affecting GATA2 (GATA binding protein 2) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Deafness-lymphedema-leukemia syndrome | GGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTT... | GGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTT... |
Task1_train_7499 | A mutation found in GATA2 (GATA binding protein 2) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; GATA2 deficiency with susceptibility to MDS/AML | GACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTT... | GACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTT... |
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