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_5200 | The variant affects gene STAT1 (signal transducer and activator of transcription 1), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | TGCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAG... | TGCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAG... |
Task1_train_5201 | This mutation is located in gene STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | TGCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAG... | TGCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAG... |
Task1_train_5202 | The gene STAT1 (signal transducer and activator of transcription 1) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | GCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGT... | GCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGT... |
Task1_train_5203 | The gene STAT1 (signal transducer and activator of transcription 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | GCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGT... | GCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGT... |
Task1_train_5204 | The gene STAT1 (signal transducer and activator of transcription 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Immunodeficiency 31B | GCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGT... | GCATTCCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGT... |
Task1_train_5205 | A sequence alteration has been identified in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | CCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTA... | CCTAGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTA... |
Task1_train_5206 | A genetic alteration is present in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | AGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTT... | AGCACTAGTTTCCAAAAACAGAATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTT... |
Task1_train_5207 | Here is a variant affecting STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | ATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCT... | ATTCCAAGGGAATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCT... |
Task1_train_5208 | A mutation found in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | ATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTT... | ATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTT... |
Task1_train_5209 | This genomic variant is located on Chromosome 2, within the STAT1 (signal transducer and activator of transcription 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; See cases | ATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTT... | ATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTT... |
Task1_train_5210 | This mutation is located in gene STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; STAT1-related disorder | ATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTT... | ATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTT... |
Task1_train_5211 | This mutation occurs in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | ATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTT... | ATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTT... |
Task1_train_5212 | Located on Chromosome 2, this mutation impacts STAT1 (signal transducer and activator of transcription 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Immunodeficiency 31B | ATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTT... | ATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTT... |
Task1_train_5213 | Consider this mutation in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | ATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTT... | ATCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTT... |
Task1_train_5214 | A variant was discovered on Chromosome 2, affecting STAT1 (signal transducer and activator of transcription 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | TCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTC... | TCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTC... |
Task1_train_5215 | This variant affects the gene STAT1 (signal transducer and activator of transcription 1) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; STAT1-related disorder | TCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTC... | TCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTC... |
Task1_train_5216 | The following genetic variant occurs in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | TCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTC... | TCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTC... |
Task1_train_5217 | Gene STAT1 (signal transducer and activator of transcription 1) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Immunodeficiency 31B | TCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTC... | TCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTC... |
Task1_train_5218 | This genomic variant is located on Chromosome 2, within the STAT1 (signal transducer and activator of transcription 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | TCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTC... | TCAGCAAATTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTC... |
Task1_train_5219 | The gene STAT1 (signal transducer and activator of transcription 1), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | TTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTCTGTATATG... | TTCCTTGGCTGTTGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTCTGTATATG... |
Task1_train_5220 | A variant was discovered in gene STAT1 (signal transducer and activator of transcription 1), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Immunodeficiency 31B | TGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTCTGTATATGTTATCATCTGCA... | TGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTCTGTATATGTTATCATCTGCA... |
Task1_train_5221 | With a mutation on Chromosome 2 in gene STAT1 (signal transducer and activator of transcription 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | TGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTCTGTATATGTTATCATCTGCA... | TGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTCTGTATATGTTATCATCTGCA... |
Task1_train_5222 | A mutation found in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | TGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTCTGTATATGTTATCATCTGCA... | TGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTCTGTATATGTTATCATCTGCA... |
Task1_train_5223 | This variant affects gene STAT1 (signal transducer and activator of transcription 1) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Immunodeficiency 31B | TGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTCTGTATATGTTATCATCTGCA... | TGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTCTGTATATGTTATCATCTGCA... |
Task1_train_5224 | Gene STAT1 (signal transducer and activator of transcription 1) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | TGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTCTGTATATGTTATCATCTGCA... | TGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTCTGTATATGTTATCATCTGCA... |
Task1_train_5225 | Here is a variant affecting STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Chronic mucocutaneous candidiasis | TGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTCTGTATATGTTATCATCTGCA... | TGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTCTGTATATGTTATCATCTGCA... |
Task1_train_5226 | This gene mutation involves STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | TGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTCTGTATATGTTATCATCTGCA... | TGTGTAGTCTACTACTTTCTCTGTGGTCAGATCACACTTGTTCCCTACCAACAATTTGTTGACGTTTTCACTGGGATAATGATCTATTTTCTGCAGTCACTGTTTAATATTATTGAAGGACTCCTGATCTGTCACATCATACACCACTAGGATGCCATTGGCTCCTCTGTAATAACTGGAGATGACTGTTCGAAACCTTTCCTGTTCTGCTGTGTTCCATATTTGAAGCTTGATTGTTTTCCCGTCTAACTCTATAGTTCTTATTTTGAAATCCATACCAATTGTGCTGATGTAGCTTTCTGTATATGTTATCATCTGCA... |
Task1_train_5227 | This sequence change occurs on Chromosome 2, altering STAT1 (signal transducer and activator of transcription 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | TTAGTCTTCCTTCCTTGCAGTCAACTGCTAACAGCAACACAGGCTGGGGAAACGCTGTTTTATTCACTTGCAGTAATGACAGAAGAAAACCTTTTAAAAGTGTCTTCTTCCCTGGGAAAAGTATCTACTTCACTTTCTGATTTTGCTCGATTCCAGTTCAAAGCCCTGGGACAGCAGCCCTTCGTCAGGAAAGGAGAAGGCAGGATAACGGCTGGCTGAGTTCCAGCGGAGAAGCTAAACCAGTGTCCCCAACTCTGCTTGCACACAGAGAAAATGACAGCACAGTGGGAAAACTAGAGGGCATGTGTGTCCCTACAAGA... | TTAGTCTTCCTTCCTTGCAGTCAACTGCTAACAGCAACACAGGCTGGGGAAACGCTGTTTTATTCACTTGCAGTAATGACAGAAGAAAACCTTTTAAAAGTGTCTTCTTCCCTGGGAAAAGTATCTACTTCACTTTCTGATTTTGCTCGATTCCAGTTCAAAGCCCTGGGACAGCAGCCCTTCGTCAGGAAAGGAGAAGGCAGGATAACGGCTGGCTGAGTTCCAGCGGAGAAGCTAAACCAGTGTCCCCAACTCTGCTTGCACACAGAGAAAATGACAGCACAGTGGGAAAACTAGAGGGCATGTGTGTCCCTACAAGA... |
Task1_train_5228 | This is a variant in STAT1 (signal transducer and activator of transcription 1), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | AGTCTTCCTTCCTTGCAGTCAACTGCTAACAGCAACACAGGCTGGGGAAACGCTGTTTTATTCACTTGCAGTAATGACAGAAGAAAACCTTTTAAAAGTGTCTTCTTCCCTGGGAAAAGTATCTACTTCACTTTCTGATTTTGCTCGATTCCAGTTCAAAGCCCTGGGACAGCAGCCCTTCGTCAGGAAAGGAGAAGGCAGGATAACGGCTGGCTGAGTTCCAGCGGAGAAGCTAAACCAGTGTCCCCAACTCTGCTTGCACACAGAGAAAATGACAGCACAGTGGGAAAACTAGAGGGCATGTGTGTCCCTACAAGAGG... | AGTCTTCCTTCCTTGCAGTCAACTGCTAACAGCAACACAGGCTGGGGAAACGCTGTTTTATTCACTTGCAGTAATGACAGAAGAAAACCTTTTAAAAGTGTCTTCTTCCCTGGGAAAAGTATCTACTTCACTTTCTGATTTTGCTCGATTCCAGTTCAAAGCCCTGGGACAGCAGCCCTTCGTCAGGAAAGGAGAAGGCAGGATAACGGCTGGCTGAGTTCCAGCGGAGAAGCTAAACCAGTGTCCCCAACTCTGCTTGCACACAGAGAAAATGACAGCACAGTGGGAAAACTAGAGGGCATGTGTGTCCCTACAAGAGG... |
Task1_train_5229 | The following genetic variant occurs in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | AGTCTTCCTTCCTTGCAGTCAACTGCTAACAGCAACACAGGCTGGGGAAACGCTGTTTTATTCACTTGCAGTAATGACAGAAGAAAACCTTTTAAAAGTGTCTTCTTCCCTGGGAAAAGTATCTACTTCACTTTCTGATTTTGCTCGATTCCAGTTCAAAGCCCTGGGACAGCAGCCCTTCGTCAGGAAAGGAGAAGGCAGGATAACGGCTGGCTGAGTTCCAGCGGAGAAGCTAAACCAGTGTCCCCAACTCTGCTTGCACACAGAGAAAATGACAGCACAGTGGGAAAACTAGAGGGCATGTGTGTCCCTACAAGAGG... | AGTCTTCCTTCCTTGCAGTCAACTGCTAACAGCAACACAGGCTGGGGAAACGCTGTTTTATTCACTTGCAGTAATGACAGAAGAAAACCTTTTAAAAGTGTCTTCTTCCCTGGGAAAAGTATCTACTTCACTTTCTGATTTTGCTCGATTCCAGTTCAAAGCCCTGGGACAGCAGCCCTTCGTCAGGAAAGGAGAAGGCAGGATAACGGCTGGCTGAGTTCCAGCGGAGAAGCTAAACCAGTGTCCCCAACTCTGCTTGCACACAGAGAAAATGACAGCACAGTGGGAAAACTAGAGGGCATGTGTGTCCCTACAAGAGG... |
Task1_train_5230 | The gene STAT1 (signal transducer and activator of transcription 1) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Immunodeficiency 31B | AGTCTTCCTTCCTTGCAGTCAACTGCTAACAGCAACACAGGCTGGGGAAACGCTGTTTTATTCACTTGCAGTAATGACAGAAGAAAACCTTTTAAAAGTGTCTTCTTCCCTGGGAAAAGTATCTACTTCACTTTCTGATTTTGCTCGATTCCAGTTCAAAGCCCTGGGACAGCAGCCCTTCGTCAGGAAAGGAGAAGGCAGGATAACGGCTGGCTGAGTTCCAGCGGAGAAGCTAAACCAGTGTCCCCAACTCTGCTTGCACACAGAGAAAATGACAGCACAGTGGGAAAACTAGAGGGCATGTGTGTCCCTACAAGAGG... | AGTCTTCCTTCCTTGCAGTCAACTGCTAACAGCAACACAGGCTGGGGAAACGCTGTTTTATTCACTTGCAGTAATGACAGAAGAAAACCTTTTAAAAGTGTCTTCTTCCCTGGGAAAAGTATCTACTTCACTTTCTGATTTTGCTCGATTCCAGTTCAAAGCCCTGGGACAGCAGCCCTTCGTCAGGAAAGGAGAAGGCAGGATAACGGCTGGCTGAGTTCCAGCGGAGAAGCTAAACCAGTGTCCCCAACTCTGCTTGCACACAGAGAAAATGACAGCACAGTGGGAAAACTAGAGGGCATGTGTGTCCCTACAAGAGG... |
Task1_train_5231 | A genomic change on Chromosome 2 affects STAT1 (signal transducer and activator of transcription 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Immunodeficiency 31B | GTCTTCCTTCCTTGCAGTCAACTGCTAACAGCAACACAGGCTGGGGAAACGCTGTTTTATTCACTTGCAGTAATGACAGAAGAAAACCTTTTAAAAGTGTCTTCTTCCCTGGGAAAAGTATCTACTTCACTTTCTGATTTTGCTCGATTCCAGTTCAAAGCCCTGGGACAGCAGCCCTTCGTCAGGAAAGGAGAAGGCAGGATAACGGCTGGCTGAGTTCCAGCGGAGAAGCTAAACCAGTGTCCCCAACTCTGCTTGCACACAGAGAAAATGACAGCACAGTGGGAAAACTAGAGGGCATGTGTGTCCCTACAAGAGGC... | GTCTTCCTTCCTTGCAGTCAACTGCTAACAGCAACACAGGCTGGGGAAACGCTGTTTTATTCACTTGCAGTAATGACAGAAGAAAACCTTTTAAAAGTGTCTTCTTCCCTGGGAAAAGTATCTACTTCACTTTCTGATTTTGCTCGATTCCAGTTCAAAGCCCTGGGACAGCAGCCCTTCGTCAGGAAAGGAGAAGGCAGGATAACGGCTGGCTGAGTTCCAGCGGAGAAGCTAAACCAGTGTCCCCAACTCTGCTTGCACACAGAGAAAATGACAGCACAGTGGGAAAACTAGAGGGCATGTGTGTCCCTACAAGAGGC... |
Task1_train_5232 | This sequence change occurs on Chromosome 2, altering STAT1 (signal transducer and activator of transcription 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | TAACGACCATGTCACTGATGTTTTGTACAGTCAAACGACACCCCATGGTACAGGAGTGCTCCAAACCAAGCAGACGTGGCTGAACGTGGCGAGAGTCATGAATAACACTGTGCTTTCCAAGGGAGTGTTTCCAGGGTAAGCAGAAGCTGGACTATGTCAAACTCTATACTAATGTTTTGACAGGGTCCATTCAACTAACACAGCTCAAAGGTACATTTATGTGTTTATGTGGTTAGCCAGTCAGCTGCCAGTTTTCTGCTTTGGAGAATCTTACCAGTTCTGCAGCTGATCCAAGCAAGCATTGGGCGGCCCCCCAATAC... | TAACGACCATGTCACTGATGTTTTGTACAGTCAAACGACACCCCATGGTACAGGAGTGCTCCAAACCAAGCAGACGTGGCTGAACGTGGCGAGAGTCATGAATAACACTGTGCTTTCCAAGGGAGTGTTTCCAGGGTAAGCAGAAGCTGGACTATGTCAAACTCTATACTAATGTTTTGACAGGGTCCATTCAACTAACACAGCTCAAAGGTACATTTATGTGTTTATGTGGTTAGCCAGTCAGCTGCCAGTTTTCTGCTTTGGAGAATCTTACCAGTTCTGCAGCTGATCCAAGCAAGCATTGGGCGGCCCCCCAATAC... |
Task1_train_5233 | Assess the clinical impact of this variant on gene STAT1 (signal transducer and activator of transcription 1), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Immunodeficiency 31B | TGTACAGTCAAACGACACCCCATGGTACAGGAGTGCTCCAAACCAAGCAGACGTGGCTGAACGTGGCGAGAGTCATGAATAACACTGTGCTTTCCAAGGGAGTGTTTCCAGGGTAAGCAGAAGCTGGACTATGTCAAACTCTATACTAATGTTTTGACAGGGTCCATTCAACTAACACAGCTCAAAGGTACATTTATGTGTTTATGTGGTTAGCCAGTCAGCTGCCAGTTTTCTGCTTTGGAGAATCTTACCAGTTCTGCAGCTGATCCAAGCAAGCATTGGGCGGCCCCCCAATACAGGCGCTCTGCTGTCTCCGCTTC... | TGTACAGTCAAACGACACCCCATGGTACAGGAGTGCTCCAAACCAAGCAGACGTGGCTGAACGTGGCGAGAGTCATGAATAACACTGTGCTTTCCAAGGGAGTGTTTCCAGGGTAAGCAGAAGCTGGACTATGTCAAACTCTATACTAATGTTTTGACAGGGTCCATTCAACTAACACAGCTCAAAGGTACATTTATGTGTTTATGTGGTTAGCCAGTCAGCTGCCAGTTTTCTGCTTTGGAGAATCTTACCAGTTCTGCAGCTGATCCAAGCAAGCATTGGGCGGCCCCCCAATACAGGCGCTCTGCTGTCTCCGCTTC... |
Task1_train_5234 | With a mutation on Chromosome 2 in gene STAT1 (signal transducer and activator of transcription 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | GTCAAACGACACCCCATGGTACAGGAGTGCTCCAAACCAAGCAGACGTGGCTGAACGTGGCGAGAGTCATGAATAACACTGTGCTTTCCAAGGGAGTGTTTCCAGGGTAAGCAGAAGCTGGACTATGTCAAACTCTATACTAATGTTTTGACAGGGTCCATTCAACTAACACAGCTCAAAGGTACATTTATGTGTTTATGTGGTTAGCCAGTCAGCTGCCAGTTTTCTGCTTTGGAGAATCTTACCAGTTCTGCAGCTGATCCAAGCAAGCATTGGGCGGCCCCCCAATACAGGCGCTCTGCTGTCTCCGCTTCCACTCC... | GTCAAACGACACCCCATGGTACAGGAGTGCTCCAAACCAAGCAGACGTGGCTGAACGTGGCGAGAGTCATGAATAACACTGTGCTTTCCAAGGGAGTGTTTCCAGGGTAAGCAGAAGCTGGACTATGTCAAACTCTATACTAATGTTTTGACAGGGTCCATTCAACTAACACAGCTCAAAGGTACATTTATGTGTTTATGTGGTTAGCCAGTCAGCTGCCAGTTTTCTGCTTTGGAGAATCTTACCAGTTCTGCAGCTGATCCAAGCAAGCATTGGGCGGCCCCCCAATACAGGCGCTCTGCTGTCTCCGCTTCCACTCC... |
Task1_train_5235 | This sequence variant lies in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | CATGGTACAGGAGTGCTCCAAACCAAGCAGACGTGGCTGAACGTGGCGAGAGTCATGAATAACACTGTGCTTTCCAAGGGAGTGTTTCCAGGGTAAGCAGAAGCTGGACTATGTCAAACTCTATACTAATGTTTTGACAGGGTCCATTCAACTAACACAGCTCAAAGGTACATTTATGTGTTTATGTGGTTAGCCAGTCAGCTGCCAGTTTTCTGCTTTGGAGAATCTTACCAGTTCTGCAGCTGATCCAAGCAAGCATTGGGCGGCCCCCCAATACAGGCGCTCTGCTGTCTCCGCTTCCACTCCACTAGTTCATCATT... | CATGGTACAGGAGTGCTCCAAACCAAGCAGACGTGGCTGAACGTGGCGAGAGTCATGAATAACACTGTGCTTTCCAAGGGAGTGTTTCCAGGGTAAGCAGAAGCTGGACTATGTCAAACTCTATACTAATGTTTTGACAGGGTCCATTCAACTAACACAGCTCAAAGGTACATTTATGTGTTTATGTGGTTAGCCAGTCAGCTGCCAGTTTTCTGCTTTGGAGAATCTTACCAGTTCTGCAGCTGATCCAAGCAAGCATTGGGCGGCCCCCCAATACAGGCGCTCTGCTGTCTCCGCTTCCACTCCACTAGTTCATCATT... |
Task1_train_5236 | An alteration has been detected in STAT1 (signal transducer and activator of transcription 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | ATGGTACAGGAGTGCTCCAAACCAAGCAGACGTGGCTGAACGTGGCGAGAGTCATGAATAACACTGTGCTTTCCAAGGGAGTGTTTCCAGGGTAAGCAGAAGCTGGACTATGTCAAACTCTATACTAATGTTTTGACAGGGTCCATTCAACTAACACAGCTCAAAGGTACATTTATGTGTTTATGTGGTTAGCCAGTCAGCTGCCAGTTTTCTGCTTTGGAGAATCTTACCAGTTCTGCAGCTGATCCAAGCAAGCATTGGGCGGCCCCCCAATACAGGCGCTCTGCTGTCTCCGCTTCCACTCCACTAGTTCATCATTA... | ATGGTACAGGAGTGCTCCAAACCAAGCAGACGTGGCTGAACGTGGCGAGAGTCATGAATAACACTGTGCTTTCCAAGGGAGTGTTTCCAGGGTAAGCAGAAGCTGGACTATGTCAAACTCTATACTAATGTTTTGACAGGGTCCATTCAACTAACACAGCTCAAAGGTACATTTATGTGTTTATGTGGTTAGCCAGTCAGCTGCCAGTTTTCTGCTTTGGAGAATCTTACCAGTTCTGCAGCTGATCCAAGCAAGCATTGGGCGGCCCCCCAATACAGGCGCTCTGCTGTCTCCGCTTCCACTCCACTAGTTCATCATTA... |
Task1_train_5237 | Given this variant in gene STAT1 (signal transducer and activator of transcription 1) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | AGCATTACCATTTTTCAAGGGGTTCTAGTAGCTGCTGTAGAGCCATCCTTGACTTTCTGCTCTCACTCCTGCATCTAATCCTTCAACATAAGGATCCTTCTATATTGGTATCACATCCAAAGCATAACCTGAATCTGTCCACCTCTTCCTACCTCCACTGATTCTACTGAGCGCAAGCTTCCACTGCCTCTACCTTGGACAGCTGCAAGAACCCTCTATCTGCCTGCTTCCATTCCTGTGCCAGCAACTCAGAGGCCTTTCCTGACCCTGATCTAAAGGAACAACCCCACTCCCAGCCACTCCATGAATTCAGCATGTTA... | AGCATTACCATTTTTCAAGGGGTTCTAGTAGCTGCTGTAGAGCCATCCTTGACTTTCTGCTCTCACTCCTGCATCTAATCCTTCAACATAAGGATCCTTCTATATTGGTATCACATCCAAAGCATAACCTGAATCTGTCCACCTCTTCCTACCTCCACTGATTCTACTGAGCGCAAGCTTCCACTGCCTCTACCTTGGACAGCTGCAAGAACCCTCTATCTGCCTGCTTCCATTCCTGTGCCAGCAACTCAGAGGCCTTTCCTGACCCTGATCTAAAGGAACAACCCCACTCCCAGCCACTCCATGAATTCAGCATGTTA... |
Task1_train_5238 | The gene STAT1 (signal transducer and activator of transcription 1) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Immunodeficiency 31B | AGCATTACCATTTTTCAAGGGGTTCTAGTAGCTGCTGTAGAGCCATCCTTGACTTTCTGCTCTCACTCCTGCATCTAATCCTTCAACATAAGGATCCTTCTATATTGGTATCACATCCAAAGCATAACCTGAATCTGTCCACCTCTTCCTACCTCCACTGATTCTACTGAGCGCAAGCTTCCACTGCCTCTACCTTGGACAGCTGCAAGAACCCTCTATCTGCCTGCTTCCATTCCTGTGCCAGCAACTCAGAGGCCTTTCCTGACCCTGATCTAAAGGAACAACCCCACTCCCAGCCACTCCATGAATTCAGCATGTTA... | AGCATTACCATTTTTCAAGGGGTTCTAGTAGCTGCTGTAGAGCCATCCTTGACTTTCTGCTCTCACTCCTGCATCTAATCCTTCAACATAAGGATCCTTCTATATTGGTATCACATCCAAAGCATAACCTGAATCTGTCCACCTCTTCCTACCTCCACTGATTCTACTGAGCGCAAGCTTCCACTGCCTCTACCTTGGACAGCTGCAAGAACCCTCTATCTGCCTGCTTCCATTCCTGTGCCAGCAACTCAGAGGCCTTTCCTGACCCTGATCTAAAGGAACAACCCCACTCCCAGCCACTCCATGAATTCAGCATGTTA... |
Task1_train_5239 | Chromosome 2 houses a mutation in gene STAT1 (signal transducer and activator of transcription 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | AGCATTACCATTTTTCAAGGGGTTCTAGTAGCTGCTGTAGAGCCATCCTTGACTTTCTGCTCTCACTCCTGCATCTAATCCTTCAACATAAGGATCCTTCTATATTGGTATCACATCCAAAGCATAACCTGAATCTGTCCACCTCTTCCTACCTCCACTGATTCTACTGAGCGCAAGCTTCCACTGCCTCTACCTTGGACAGCTGCAAGAACCCTCTATCTGCCTGCTTCCATTCCTGTGCCAGCAACTCAGAGGCCTTTCCTGACCCTGATCTAAAGGAACAACCCCACTCCCAGCCACTCCATGAATTCAGCATGTTA... | AGCATTACCATTTTTCAAGGGGTTCTAGTAGCTGCTGTAGAGCCATCCTTGACTTTCTGCTCTCACTCCTGCATCTAATCCTTCAACATAAGGATCCTTCTATATTGGTATCACATCCAAAGCATAACCTGAATCTGTCCACCTCTTCCTACCTCCACTGATTCTACTGAGCGCAAGCTTCCACTGCCTCTACCTTGGACAGCTGCAAGAACCCTCTATCTGCCTGCTTCCATTCCTGTGCCAGCAACTCAGAGGCCTTTCCTGACCCTGATCTAAAGGAACAACCCCACTCCCAGCCACTCCATGAATTCAGCATGTTA... |
Task1_train_5240 | Here’s a variant in STAT4 (signal transducer and activator of transcription 4) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Disabling pansclerotic morphea of childhood | TCTCAACACCGCATACACACTTGGAGACATGGGAAGAAGGTCTGATGGAGAATGTGGCTCTGTTGAATCACTTCGGCTTAAAGAGATAACAAGGTCAATATGGACAAGGATTAAAAAATAATAATAGTTCACGGTGACTTACTATGTCAGGAACTCATTTCTAGGGCTTCATCTATTTGTGACATTGAGTTATCTAATTCATCATTTCATATCAGAACACTCAACTTACTGTGGCATATATGGCATATAAAAGGGGAATTTTATAATTTTAGGCACAATAGATTGTGGTAAGTGTGCCCTGAAGGCTAGCCTTATGTATT... | TCTCAACACCGCATACACACTTGGAGACATGGGAAGAAGGTCTGATGGAGAATGTGGCTCTGTTGAATCACTTCGGCTTAAAGAGATAACAAGGTCAATATGGACAAGGATTAAAAAATAATAATAGTTCACGGTGACTTACTATGTCAGGAACTCATTTCTAGGGCTTCATCTATTTGTGACATTGAGTTATCTAATTCATCATTTCATATCAGAACACTCAACTTACTGTGGCATATATGGCATATAAAAGGGGAATTTTATAATTTTAGGCACAATAGATTGTGGTAAGTGTGCCCTGAAGGCTAGCCTTATGTATT... |
Task1_train_5241 | A mutation on Chromosome 2 affecting STAT4 (signal transducer and activator of transcription 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | TGGAGAATGTGGCTCTGTTGAATCACTTCGGCTTAAAGAGATAACAAGGTCAATATGGACAAGGATTAAAAAATAATAATAGTTCACGGTGACTTACTATGTCAGGAACTCATTTCTAGGGCTTCATCTATTTGTGACATTGAGTTATCTAATTCATCATTTCATATCAGAACACTCAACTTACTGTGGCATATATGGCATATAAAAGGGGAATTTTATAATTTTAGGCACAATAGATTGTGGTAAGTGTGCCCTGAAGGCTAGCCTTATGTATTAAAGGAAATGGGACATTGCACATTACAATGCTTTGTTCTCAGTTA... | TGGAGAATGTGGCTCTGTTGAATCACTTCGGCTTAAAGAGATAACAAGGTCAATATGGACAAGGATTAAAAAATAATAATAGTTCACGGTGACTTACTATGTCAGGAACTCATTTCTAGGGCTTCATCTATTTGTGACATTGAGTTATCTAATTCATCATTTCATATCAGAACACTCAACTTACTGTGGCATATATGGCATATAAAAGGGGAATTTTATAATTTTAGGCACAATAGATTGTGGTAAGTGTGCCCTGAAGGCTAGCCTTATGTATTAAAGGAAATGGGACATTGCACATTACAATGCTTTGTTCTCAGTTA... |
Task1_train_5242 | This is a variant in STAT4 (signal transducer and activator of transcription 4), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Disabling pansclerotic morphea of childhood | GAGATAACAAGGTCAATATGGACAAGGATTAAAAAATAATAATAGTTCACGGTGACTTACTATGTCAGGAACTCATTTCTAGGGCTTCATCTATTTGTGACATTGAGTTATCTAATTCATCATTTCATATCAGAACACTCAACTTACTGTGGCATATATGGCATATAAAAGGGGAATTTTATAATTTTAGGCACAATAGATTGTGGTAAGTGTGCCCTGAAGGCTAGCCTTATGTATTAAAGGAAATGGGACATTGCACATTACAATGCTTTGTTCTCAGTTATGTGTACTCTGCTCTACCTTTAAATCTCCTATAGGAA... | GAGATAACAAGGTCAATATGGACAAGGATTAAAAAATAATAATAGTTCACGGTGACTTACTATGTCAGGAACTCATTTCTAGGGCTTCATCTATTTGTGACATTGAGTTATCTAATTCATCATTTCATATCAGAACACTCAACTTACTGTGGCATATATGGCATATAAAAGGGGAATTTTATAATTTTAGGCACAATAGATTGTGGTAAGTGTGCCCTGAAGGCTAGCCTTATGTATTAAAGGAAATGGGACATTGCACATTACAATGCTTTGTTCTCAGTTATGTGTACTCTGCTCTACCTTTAAATCTCCTATAGGAA... |
Task1_train_5243 | This variant lies on Chromosome 2 and affects the gene DNAH7 (dynein axonemal heavy chain 7). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Abnormal muscle tone | ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGTCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCGACCCATTTTTAAACCAGGAATTTTGTTTCCTTATTGTTGAGTTTTAAGAGTTTGTTGGATATTTTGGATAAGAGTCCTTTTTCGGATACGTCTTTTACAAACATTTTCTCTCAGTCTGTCTGTGTGTGTGTGTGTTTTTAATTTAATTTAATTTATTTTTTTAAGACAGGGTCTTGTTTAGCTAGGACTTGTATT... | ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGTCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCGACCCATTTTTAAACCAGGAATTTTGTTTCCTTATTGTTGAGTTTTAAGAGTTTGTTGGATATTTTGGATAAGAGTCCTTTTTCGGATACGTCTTTTACAAACATTTTCTCTCAGTCTGTCTGTGTGTGTGTGTGTTTTTAATTTAATTTAATTTATTTTTTTAAGACAGGGTCTTGTTTAGCTAGGACTTGTATT... |
Task1_train_5244 | This sequence change occurs on Chromosome 2, altering DNAH7 (dynein axonemal heavy chain 7). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Seizure | ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGTCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCGACCCATTTTTAAACCAGGAATTTTGTTTCCTTATTGTTGAGTTTTAAGAGTTTGTTGGATATTTTGGATAAGAGTCCTTTTTCGGATACGTCTTTTACAAACATTTTCTCTCAGTCTGTCTGTGTGTGTGTGTGTTTTTAATTTAATTTAATTTATTTTTTTAAGACAGGGTCTTGTTTAGCTAGGACTTGTATT... | ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGTCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCGACCCATTTTTAAACCAGGAATTTTGTTTCCTTATTGTTGAGTTTTAAGAGTTTGTTGGATATTTTGGATAAGAGTCCTTTTTCGGATACGTCTTTTACAAACATTTTCTCTCAGTCTGTCTGTGTGTGTGTGTGTTTTTAATTTAATTTAATTTATTTTTTTAAGACAGGGTCTTGTTTAGCTAGGACTTGTATT... |
Task1_train_5245 | Given a variant located on Chromosome 2 and affecting DNAH7 (dynein axonemal heavy chain 7), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Abnormal basal ganglia morphology | ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGTCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCGACCCATTTTTAAACCAGGAATTTTGTTTCCTTATTGTTGAGTTTTAAGAGTTTGTTGGATATTTTGGATAAGAGTCCTTTTTCGGATACGTCTTTTACAAACATTTTCTCTCAGTCTGTCTGTGTGTGTGTGTGTTTTTAATTTAATTTAATTTATTTTTTTAAGACAGGGTCTTGTTTAGCTAGGACTTGTATT... | ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGTCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCGACCCATTTTTAAACCAGGAATTTTGTTTCCTTATTGTTGAGTTTTAAGAGTTTGTTGGATATTTTGGATAAGAGTCCTTTTTCGGATACGTCTTTTACAAACATTTTCTCTCAGTCTGTCTGTGTGTGTGTGTGTTTTTAATTTAATTTAATTTATTTTTTTAAGACAGGGTCTTGTTTAGCTAGGACTTGTATT... |
Task1_train_5246 | Here is a genetic alteration in DNAH7 (dynein axonemal heavy chain 7) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hypoplasia of the corpus callosum | ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGTCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCGACCCATTTTTAAACCAGGAATTTTGTTTCCTTATTGTTGAGTTTTAAGAGTTTGTTGGATATTTTGGATAAGAGTCCTTTTTCGGATACGTCTTTTACAAACATTTTCTCTCAGTCTGTCTGTGTGTGTGTGTGTTTTTAATTTAATTTAATTTATTTTTTTAAGACAGGGTCTTGTTTAGCTAGGACTTGTATT... | ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGTCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCGACCCATTTTTAAACCAGGAATTTTGTTTCCTTATTGTTGAGTTTTAAGAGTTTGTTGGATATTTTGGATAAGAGTCCTTTTTCGGATACGTCTTTTACAAACATTTTCTCTCAGTCTGTCTGTGTGTGTGTGTGTTTTTAATTTAATTTAATTTATTTTTTTAAGACAGGGTCTTGTTTAGCTAGGACTTGTATT... |
Task1_train_5247 | The variant affects gene DNAH7 (dynein axonemal heavy chain 7), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Dyspnea | ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGTCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCGACCCATTTTTAAACCAGGAATTTTGTTTCCTTATTGTTGAGTTTTAAGAGTTTGTTGGATATTTTGGATAAGAGTCCTTTTTCGGATACGTCTTTTACAAACATTTTCTCTCAGTCTGTCTGTGTGTGTGTGTGTTTTTAATTTAATTTAATTTATTTTTTTAAGACAGGGTCTTGTTTAGCTAGGACTTGTATT... | ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGTCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCGACCCATTTTTAAACCAGGAATTTTGTTTCCTTATTGTTGAGTTTTAAGAGTTTGTTGGATATTTTGGATAAGAGTCCTTTTTCGGATACGTCTTTTACAAACATTTTCTCTCAGTCTGTCTGTGTGTGTGTGTGTTTTTAATTTAATTTAATTTATTTTTTTAAGACAGGGTCTTGTTTAGCTAGGACTTGTATT... |
Task1_train_5248 | This variant impacts the gene DNAH7 (dynein axonemal heavy chain 7) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Ciliary dyskinesia, primary, 50 | ACACACACACACACACACACACACACACACACATTAAAAAAACAGGGGGAGATGACTTCTTCAGAGATATCAATGTCATAAAAGACAAAGAAAGAATAGGAAAATGTGCCAGATTAAAAGAGACAAAAGAGACGAGGCAATTAAGTATAACACTGAATACTAGACCAATGCTGTCAGGGACAGGAAATGGATATTACTGCATCAACTGACAAAATTGAAACACAAATGATAGATTAAATAACAGTGTATCCTTCTTAAACTTATTAAAAGTAATAACTGTACCAGAATAAGATAATATCCCTATTCTTACAAAATTTACA... | ACACACACACACACACACACACACACACACACATTAAAAAAACAGGGGGAGATGACTTCTTCAGAGATATCAATGTCATAAAAGACAAAGAAAGAATAGGAAAATGTGCCAGATTAAAAGAGACAAAAGAGACGAGGCAATTAAGTATAACACTGAATACTAGACCAATGCTGTCAGGGACAGGAAATGGATATTACTGCATCAACTGACAAAATTGAAACACAAATGATAGATTAAATAACAGTGTATCCTTCTTAAACTTATTAAAAGTAATAACTGTACCAGAATAAGATAATATCCCTATTCTTACAAAATTTACA... |
Task1_train_5249 | This alteration in DNAH7 (dynein axonemal heavy chain 7) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Ciliary dyskinesia, primary, 50 | TGTAACTGCTGCAATTTTCAGCAAAAGCTTTAAAATCTGATGCTGCTCCTAAAACAATAACACCTTGTTGAGAAGGCCCAAGGTGTTGTCATTCTCCTTGGTAACATTAATTCATATGATTATAAAGTTTACAAAAGTGCTATATAATTTAGAGTTGGTTAAAATAACTAAGACGTTCCCAAAACTCTTGTATGTGCACTGATGTTGCTGAAATATTTACAGAAATAATTCTCTGCCCCAGAGCTAGATTAAAGACTAATCCATTTCTCTTGCTGTAGCCAGGTTGTGAGAATAAACAAGGCACTCAGATAAGTCAGGGA... | TGTAACTGCTGCAATTTTCAGCAAAAGCTTTAAAATCTGATGCTGCTCCTAAAACAATAACACCTTGTTGAGAAGGCCCAAGGTGTTGTCATTCTCCTTGGTAACATTAATTCATATGATTATAAAGTTTACAAAAGTGCTATATAATTTAGAGTTGGTTAAAATAACTAAGACGTTCCCAAAACTCTTGTATGTGCACTGATGTTGCTGAAATATTTACAGAAATAATTCTCTGCCCCAGAGCTAGATTAAAGACTAATCCATTTCTCTTGCTGTAGCCAGGTTGTGAGAATAAACAAGGCACTCAGATAAGTCAGGGA... |
Task1_train_5250 | The gene DNAH7 (dynein axonemal heavy chain 7), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Ciliary dyskinesia, primary, 50 | ACTGGGAATAATTTTTTTTTTTCTTTTGGAGATGGGGTCTCACTCCCACTGCCCAGGCTGAAGTGTGGTGGCACAATCACGACTCACTGCGGCCTCAACCTCCTGGGCTCAAGTAATCCTCCCACCTCAGCCTCCCCAGTAGCTGGGACTACAAGCCCACACCACCGTGCCCAGCTAAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGTCCAGGCTGGTCTCAAACTCCTGGACTCATGCAAGCTGCTCATCTTGGCCTCCCAAAGTGCTGGGCTTACAGGTGTGAGCCACTGTGCCCAGGCTGGGGATA... | ACTGGGAATAATTTTTTTTTTTCTTTTGGAGATGGGGTCTCACTCCCACTGCCCAGGCTGAAGTGTGGTGGCACAATCACGACTCACTGCGGCCTCAACCTCCTGGGCTCAAGTAATCCTCCCACCTCAGCCTCCCCAGTAGCTGGGACTACAAGCCCACACCACCGTGCCCAGCTAAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGTCCAGGCTGGTCTCAAACTCCTGGACTCATGCAAGCTGCTCATCTTGGCCTCCCAAAGTGCTGGGCTTACAGGTGTGAGCCACTGTGCCCAGGCTGGGGATA... |
Task1_train_5251 | A mutation on Chromosome 2 affecting DNAH7 (dynein axonemal heavy chain 7) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Abdominal situs inversus | TTTAGTCTTTGTGAGCCAAGCAGCAAAACTGAGGATATTTACATATTTCATGGGTATTTATATGGCCATTAATATGTAATTATTTTAAAATGTCAAAACCATTATTAGCTCTTGGGCCACACGAAAACAGGCGATGGGCAGATGTGGCCTGCGGGTCATAGTTTGCCAATCCCTGACCAGGAAGGAAACAGGACTGGTGTGTTATGTGCTAGTACGAACATCATTCTTAGTTACGATAACTGAGAATTTGTCCATCTTTTTCTATATCAGCACACACCTGGTTTTCCAGGTCAGCCTTCTTTTGTTTATTTAATTCAAGT... | TTTAGTCTTTGTGAGCCAAGCAGCAAAACTGAGGATATTTACATATTTCATGGGTATTTATATGGCCATTAATATGTAATTATTTTAAAATGTCAAAACCATTATTAGCTCTTGGGCCACACGAAAACAGGCGATGGGCAGATGTGGCCTGCGGGTCATAGTTTGCCAATCCCTGACCAGGAAGGAAACAGGACTGGTGTGTTATGTGCTAGTACGAACATCATTCTTAGTTACGATAACTGAGAATTTGTCCATCTTTTTCTATATCAGCACACACCTGGTTTTCCAGGTCAGCCTTCTTTTGTTTATTTAATTCAAGT... |
Task1_train_5252 | This alteration in DNAH7 (dynein axonemal heavy chain 7) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Primary ciliary dyskinesia | TTTAGTCTTTGTGAGCCAAGCAGCAAAACTGAGGATATTTACATATTTCATGGGTATTTATATGGCCATTAATATGTAATTATTTTAAAATGTCAAAACCATTATTAGCTCTTGGGCCACACGAAAACAGGCGATGGGCAGATGTGGCCTGCGGGTCATAGTTTGCCAATCCCTGACCAGGAAGGAAACAGGACTGGTGTGTTATGTGCTAGTACGAACATCATTCTTAGTTACGATAACTGAGAATTTGTCCATCTTTTTCTATATCAGCACACACCTGGTTTTCCAGGTCAGCCTTCTTTTGTTTATTTAATTCAAGT... | TTTAGTCTTTGTGAGCCAAGCAGCAAAACTGAGGATATTTACATATTTCATGGGTATTTATATGGCCATTAATATGTAATTATTTTAAAATGTCAAAACCATTATTAGCTCTTGGGCCACACGAAAACAGGCGATGGGCAGATGTGGCCTGCGGGTCATAGTTTGCCAATCCCTGACCAGGAAGGAAACAGGACTGGTGTGTTATGTGCTAGTACGAACATCATTCTTAGTTACGATAACTGAGAATTTGTCCATCTTTTTCTATATCAGCACACACCTGGTTTTCCAGGTCAGCCTTCTTTTGTTTATTTAATTCAAGT... |
Task1_train_5253 | This sequence variant lies in DNAH7 (dynein axonemal heavy chain 7) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Ciliary dyskinesia, primary, 50 | GCAAGCTTGCATGAAAAGGGGGTATTTCAGCAAAAATCTGAAGGAAGGAAGTGGGCAAGCCTGCAGATAACAGAGAAAGAGTGTTCTAGGCAGAAGGAATATCAAGGGCAAAGTTACTGAGGTGGAGGATGCCAAATGCTTCCTCGTGAGTTAGATTCACCCATGACAAAATGCTGCCTTCAGCAATGCAATCTGCTATGGTTTCAATGTTTATGTTCCCCCTAAATTTATATGTTGAAATCCTCACCCCCAAGGTGATAGTATTGCAGTGGAGACTCTGGGAGGTAATTAGGTCATGGGAGCAGAACCCTCATGAATGG... | GCAAGCTTGCATGAAAAGGGGGTATTTCAGCAAAAATCTGAAGGAAGGAAGTGGGCAAGCCTGCAGATAACAGAGAAAGAGTGTTCTAGGCAGAAGGAATATCAAGGGCAAAGTTACTGAGGTGGAGGATGCCAAATGCTTCCTCGTGAGTTAGATTCACCCATGACAAAATGCTGCCTTCAGCAATGCAATCTGCTATGGTTTCAATGTTTATGTTCCCCCTAAATTTATATGTTGAAATCCTCACCCCCAAGGTGATAGTATTGCAGTGGAGACTCTGGGAGGTAATTAGGTCATGGGAGCAGAACCCTCATGAATGG... |
Task1_train_5254 | Gene DNAH7 (dynein axonemal heavy chain 7) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; DNAH7-related disorder | GCAAGCTTGCATGAAAAGGGGGTATTTCAGCAAAAATCTGAAGGAAGGAAGTGGGCAAGCCTGCAGATAACAGAGAAAGAGTGTTCTAGGCAGAAGGAATATCAAGGGCAAAGTTACTGAGGTGGAGGATGCCAAATGCTTCCTCGTGAGTTAGATTCACCCATGACAAAATGCTGCCTTCAGCAATGCAATCTGCTATGGTTTCAATGTTTATGTTCCCCCTAAATTTATATGTTGAAATCCTCACCCCCAAGGTGATAGTATTGCAGTGGAGACTCTGGGAGGTAATTAGGTCATGGGAGCAGAACCCTCATGAATGG... | GCAAGCTTGCATGAAAAGGGGGTATTTCAGCAAAAATCTGAAGGAAGGAAGTGGGCAAGCCTGCAGATAACAGAGAAAGAGTGTTCTAGGCAGAAGGAATATCAAGGGCAAAGTTACTGAGGTGGAGGATGCCAAATGCTTCCTCGTGAGTTAGATTCACCCATGACAAAATGCTGCCTTCAGCAATGCAATCTGCTATGGTTTCAATGTTTATGTTCCCCCTAAATTTATATGTTGAAATCCTCACCCCCAAGGTGATAGTATTGCAGTGGAGACTCTGGGAGGTAATTAGGTCATGGGAGCAGAACCCTCATGAATGG... |
Task1_train_5255 | A variant was discovered in gene DNAH7 (dynein axonemal heavy chain 7), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Ciliary dyskinesia, primary, 50 | TCTTAGAAAAACACCACCACCCTTCTTGCAGAATAAAATCTAAATTCTTGGTCATTCAAAGTACATCAGAATTCGGACCCATCCTTCCTTCACAACCAGGCCTCACTGATGCACATGCTGGTCCCCCCACCCCGCTTCCCTGGGCCCGAGCTTTGATGCATGGCACTCCTTGGGCCAGAACGGCACATGACTGTCATCTGAAGAGGTTATGAACTCACTGAGGCTAGCACTGTGCTTTATTCATTCTTGTATCTTCAGGTACAAGGCTGTGCGTACAGCAGAGAATTTTTTTTTCGGGGTGTTAAATTCACATCACTCTG... | TCTTAGAAAAACACCACCACCCTTCTTGCAGAATAAAATCTAAATTCTTGGTCATTCAAAGTACATCAGAATTCGGACCCATCCTTCCTTCACAACCAGGCCTCACTGATGCACATGCTGGTCCCCCCACCCCGCTTCCCTGGGCCCGAGCTTTGATGCATGGCACTCCTTGGGCCAGAACGGCACATGACTGTCATCTGAAGAGGTTATGAACTCACTGAGGCTAGCACTGTGCTTTATTCATTCTTGTATCTTCAGGTACAAGGCTGTGCGTACAGCAGAGAATTTTTTTTTCGGGGTGTTAAATTCACATCACTCTG... |
Task1_train_5256 | Gene HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neurodevelopmental disorder with hypotonia, seizures, and absent language | GAGGACACATGGGCCATGCCCAGAGTTTGGTGAAGACTAGCAATTTGGTACTGAGCAAAGTTTCTCATCTACAAAAGAAGTGCACTGGCTCTTTGTAGCTTTAAAGTTTTTTGACCTTATGAATTAGCCCTTTTCTGCTTCCCTTTTGCTATTTGTGCCAAACCTTTTGGAGGAAGAAGAGTGAATGTGTCTCATCATATTCTCTCCTAGCAGCTGGGGTGTGAACATATGGCAGGTGGCAGCCACACAGCCGCTTCTTTACTCAGTGCCAAGTAGCTGGGTGAGCAAACATGGCAGCTGAGGTTCTCAGCATTTTTCTT... | GAGGACACATGGGCCATGCCCAGAGTTTGGTGAAGACTAGCAATTTGGTACTGAGCAAAGTTTCTCATCTACAAAAGAAGTGCACTGGCTCTTTGTAGCTTTAAAGTTTTTTGACCTTATGAATTAGCCCTTTTCTGCTTCCCTTTTGCTATTTGTGCCAAACCTTTTGGAGGAAGAAGAGTGAATGTGTCTCATCATATTCTCTCCTAGCAGCTGGGGTGTGAACATATGGCAGGTGGCAGCCACACAGCCGCTTCTTTACTCAGTGCCAAGTAGCTGGGTGAGCAAACATGGCAGCTGAGGTTCTCAGCATTTTTCTT... |
Task1_train_5257 | The gene HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; HECW2-related disorder | GTGGTTATCATTAGAGGGTAGAGACCAATGAATAGACCACTACAGTAATATGGCCAAAATAAGATAAGGGCTCTAACTAGGGCTGTGCTATTAAGGTTGGAGAGAAGAAGATGAATTTGAAAATCATTTAGGAGGCAAACATGTAGCAATCAGGAAATGGTTTTATTGGGGGAGTATAAAGAAGGATATCTAAAACAGGGGTGACAAACGAACTCATGTCAAAACTAACTGTAATTAATTGCTGGGCTTGAGCACTATAAGTTAAAAAGATTTCTGAGGCCACAGTGAGTTCAGTGGGAAAAAGTACCACAGGTGATTTG... | GTGGTTATCATTAGAGGGTAGAGACCAATGAATAGACCACTACAGTAATATGGCCAAAATAAGATAAGGGCTCTAACTAGGGCTGTGCTATTAAGGTTGGAGAGAAGAAGATGAATTTGAAAATCATTTAGGAGGCAAACATGTAGCAATCAGGAAATGGTTTTATTGGGGGAGTATAAAGAAGGATATCTAAAACAGGGGTGACAAACGAACTCATGTCAAAACTAACTGTAATTAATTGCTGGGCTTGAGCACTATAAGTTAAAAAGATTTCTGAGGCCACAGTGAGTTCAGTGGGAAAAAGTACCACAGGTGATTTG... |
Task1_train_5258 | A genomic change on Chromosome 2 affects HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Neurodevelopmental disorder with hypotonia, seizures, and absent language | GTGGTTATCATTAGAGGGTAGAGACCAATGAATAGACCACTACAGTAATATGGCCAAAATAAGATAAGGGCTCTAACTAGGGCTGTGCTATTAAGGTTGGAGAGAAGAAGATGAATTTGAAAATCATTTAGGAGGCAAACATGTAGCAATCAGGAAATGGTTTTATTGGGGGAGTATAAAGAAGGATATCTAAAACAGGGGTGACAAACGAACTCATGTCAAAACTAACTGTAATTAATTGCTGGGCTTGAGCACTATAAGTTAAAAAGATTTCTGAGGCCACAGTGAGTTCAGTGGGAAAAAGTACCACAGGTGATTTG... | GTGGTTATCATTAGAGGGTAGAGACCAATGAATAGACCACTACAGTAATATGGCCAAAATAAGATAAGGGCTCTAACTAGGGCTGTGCTATTAAGGTTGGAGAGAAGAAGATGAATTTGAAAATCATTTAGGAGGCAAACATGTAGCAATCAGGAAATGGTTTTATTGGGGGAGTATAAAGAAGGATATCTAAAACAGGGGTGACAAACGAACTCATGTCAAAACTAACTGTAATTAATTGCTGGGCTTGAGCACTATAAGTTAAAAAGATTTCTGAGGCCACAGTGAGTTCAGTGGGAAAAAGTACCACAGGTGATTTG... |
Task1_train_5259 | Consider this mutation in HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Inborn genetic diseases | GTGGTTATCATTAGAGGGTAGAGACCAATGAATAGACCACTACAGTAATATGGCCAAAATAAGATAAGGGCTCTAACTAGGGCTGTGCTATTAAGGTTGGAGAGAAGAAGATGAATTTGAAAATCATTTAGGAGGCAAACATGTAGCAATCAGGAAATGGTTTTATTGGGGGAGTATAAAGAAGGATATCTAAAACAGGGGTGACAAACGAACTCATGTCAAAACTAACTGTAATTAATTGCTGGGCTTGAGCACTATAAGTTAAAAAGATTTCTGAGGCCACAGTGAGTTCAGTGGGAAAAAGTACCACAGGTGATTTG... | GTGGTTATCATTAGAGGGTAGAGACCAATGAATAGACCACTACAGTAATATGGCCAAAATAAGATAAGGGCTCTAACTAGGGCTGTGCTATTAAGGTTGGAGAGAAGAAGATGAATTTGAAAATCATTTAGGAGGCAAACATGTAGCAATCAGGAAATGGTTTTATTGGGGGAGTATAAAGAAGGATATCTAAAACAGGGGTGACAAACGAACTCATGTCAAAACTAACTGTAATTAATTGCTGGGCTTGAGCACTATAAGTTAAAAAGATTTCTGAGGCCACAGTGAGTTCAGTGGGAAAAAGTACCACAGGTGATTTG... |
Task1_train_5260 | A variant found in Chromosome 2 affects HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Neurodevelopmental disorder with hypotonia, seizures, and absent language | ATCACAGATCACAAAGGAATTGCATAAATGCAATTCCTTGTTTTTTTTCCTTGTAAAGCCTTACTTTTTCCCTTTAAGAGAAAGAGAGGTCCGGAGAGAAGAAACTGAACTAGGCTTCTGTTCTCAAAAATGATCTAAAGCTACAAGTTTTTACTAAAGGATTTCTATGTCAAGTGATTTAAAAGCCAGAGGAGACCTTTAAAAAAAAAAAAGCCCAAAGGTTTAAGTGTATGAGAACAGCACTTCCTGGCAGAAGGATTTCCTGTTTCAGGCAACCACAGCGACGTGGAGAAACATCCGCCTTGTGGCCACAGCCTATG... | ATCACAGATCACAAAGGAATTGCATAAATGCAATTCCTTGTTTTTTTTCCTTGTAAAGCCTTACTTTTTCCCTTTAAGAGAAAGAGAGGTCCGGAGAGAAGAAACTGAACTAGGCTTCTGTTCTCAAAAATGATCTAAAGCTACAAGTTTTTACTAAAGGATTTCTATGTCAAGTGATTTAAAAGCCAGAGGAGACCTTTAAAAAAAAAAAAGCCCAAAGGTTTAAGTGTATGAGAACAGCACTTCCTGGCAGAAGGATTTCCTGTTTCAGGCAACCACAGCGACGTGGAGAAACATCCGCCTTGTGGCCACAGCCTATG... |
Task1_train_5261 | With a mutation on Chromosome 2 in gene HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Neurodevelopmental disorder with hypotonia, seizures, and absent language | ACAAAGGAATTGCATAAATGCAATTCCTTGTTTTTTTTCCTTGTAAAGCCTTACTTTTTCCCTTTAAGAGAAAGAGAGGTCCGGAGAGAAGAAACTGAACTAGGCTTCTGTTCTCAAAAATGATCTAAAGCTACAAGTTTTTACTAAAGGATTTCTATGTCAAGTGATTTAAAAGCCAGAGGAGACCTTTAAAAAAAAAAAAGCCCAAAGGTTTAAGTGTATGAGAACAGCACTTCCTGGCAGAAGGATTTCCTGTTTCAGGCAACCACAGCGACGTGGAGAAACATCCGCCTTGTGGCCACAGCCTATGTTCCACAGGC... | ACAAAGGAATTGCATAAATGCAATTCCTTGTTTTTTTTCCTTGTAAAGCCTTACTTTTTCCCTTTAAGAGAAAGAGAGGTCCGGAGAGAAGAAACTGAACTAGGCTTCTGTTCTCAAAAATGATCTAAAGCTACAAGTTTTTACTAAAGGATTTCTATGTCAAGTGATTTAAAAGCCAGAGGAGACCTTTAAAAAAAAAAAAGCCCAAAGGTTTAAGTGTATGAGAACAGCACTTCCTGGCAGAAGGATTTCCTGTTTCAGGCAACCACAGCGACGTGGAGAAACATCCGCCTTGTGGCCACAGCCTATGTTCCACAGGC... |
Task1_train_5262 | Consider this mutation in HSPD1 (heat shock protein family D (Hsp60) member 1) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Hereditary spastic paraplegia 13 | GGTAAGGACAGCAAAAATATTTGCCTCAATGCCTTGCTTGCAGCAGCAGCCCAAAGGCCATGCTGAGGAGCTGGAGTTCCCTCCAACCTCCCAGATTTTACAGCTCCAAGAGAGATTACATCCTTGCACCGGGGAAAATAGAAACTGTCTTTCCCCATTATCAATGGAATAATGTAGTTCAGTCTGCAACAAAGAGAAACATGAAAATATCATAGATAGGATAATGTTTTACACACATGCCAGCCTGCCCTTCAACTGGCTTTCAATTTTCAGTATCTTCTAATCATGGAAATGCTAACACAATTATTAACTTTAAACAA... | GGTAAGGACAGCAAAAATATTTGCCTCAATGCCTTGCTTGCAGCAGCAGCCCAAAGGCCATGCTGAGGAGCTGGAGTTCCCTCCAACCTCCCAGATTTTACAGCTCCAAGAGAGATTACATCCTTGCACCGGGGAAAATAGAAACTGTCTTTCCCCATTATCAATGGAATAATGTAGTTCAGTCTGCAACAAAGAGAAACATGAAAATATCATAGATAGGATAATGTTTTACACACATGCCAGCCTGCCCTTCAACTGGCTTTCAATTTTCAGTATCTTCTAATCATGGAAATGCTAACACAATTATTAACTTTAAACAA... |
Task1_train_5263 | Chromosome 2 houses a mutation in gene HSPD1 (heat shock protein family D (Hsp60) member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hereditary spastic paraplegia 13 | GGGAAAAAAAAAATCACACATGCCATTAAATTTTTTTTAAAAAACGTGTAACATGTTAAGTCCTTACCTGTGCAATTTCTTCAGGGGTGGTCACAGGTTTAGACTGCTTTTTAAGTTCAGCAATTACAGCATCAACAGCTAACATCACACCTAGTTCAACGATATATGTCATTACAATGTTTATTTCTCTCATGGCTTCTATGTCAAGTAGAAATCTTGAGATTTGTGACAAATATTTTAATGCCTTAACTTAAAAAAAAAAATTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGCTGCCCAGGCTAGAGTGCAGTAGC... | GGGAAAAAAAAAATCACACATGCCATTAAATTTTTTTTAAAAAACGTGTAACATGTTAAGTCCTTACCTGTGCAATTTCTTCAGGGGTGGTCACAGGTTTAGACTGCTTTTTAAGTTCAGCAATTACAGCATCAACAGCTAACATCACACCTAGTTCAACGATATATGTCATTACAATGTTTATTTCTCTCATGGCTTCTATGTCAAGTAGAAATCTTGAGATTTGTGACAAATATTTTAATGCCTTAACTTAAAAAAAAAAATTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGCTGCCCAGGCTAGAGTGCAGTAGC... |
Task1_train_5264 | The gene HSPD1 (heat shock protein family D (Hsp60) member 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Leukodystrophy | AACATTACTTTCTGACATTCTGAATGATCCAGTGTATTTAGTCTTACTTTCTACAAAACTAAACTAAAAATTAGCCAGGAATGGTGGTGAGTGCCTGTAGTAGTCCCAGCTACTTGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCCAGTGCAGTCCAGCCTGGGCTACAGAGCAAGACCCTGTCTCTAAAAACAAAAGAAACCAACTAAGTAAAATATCAAAATTACCTAACAGTACCTACCCACCATACAGCCAAGCTTGCTAAAGGAAAACCCAGTTTAAGATTTCTCCAGGCCAAGAGGAGGAATGAG... | AACATTACTTTCTGACATTCTGAATGATCCAGTGTATTTAGTCTTACTTTCTACAAAACTAAACTAAAAATTAGCCAGGAATGGTGGTGAGTGCCTGTAGTAGTCCCAGCTACTTGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCCAGTGCAGTCCAGCCTGGGCTACAGAGCAAGACCCTGTCTCTAAAAACAAAAGAAACCAACTAAGTAAAATATCAAAATTACCTAACAGTACCTACCCACCATACAGCCAAGCTTGCTAAAGGAAAACCCAGTTTAAGATTTCTCCAGGCCAAGAGGAGGAATGAG... |
Task1_train_5265 | This gene mutation involves SATB2 (SATB homeobox 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Chromosome 2q32-q33 deletion syndrome | ATCACCATCTTATGATTAAAATAAGCTGTGATTAATATGTGGAATAAATTGCTTTTTCCTTGCTGTTTTATTTCTACTTCATTTGTACTGAACTAAGATAGGCCCTGAATAAAAATTCCATGAAAAGTCAGTGGTTCCCTGAAGCAAGTCCTTGGCCTTGTGTTGGTTCAAGATAGAAGTCTAATCCAGTTCACATCAAAATGAGAAAAAAAAAAGCAGTGGAGATGCCGGGGGAGTGATAGATTTTCATATGGCTGAACTGTAGCATTTACATGATCTTTTGTCTGAGGCTATCCATTTCATTAATCTGTCTGATATCA... | ATCACCATCTTATGATTAAAATAAGCTGTGATTAATATGTGGAATAAATTGCTTTTTCCTTGCTGTTTTATTTCTACTTCATTTGTACTGAACTAAGATAGGCCCTGAATAAAAATTCCATGAAAAGTCAGTGGTTCCCTGAAGCAAGTCCTTGGCCTTGTGTTGGTTCAAGATAGAAGTCTAATCCAGTTCACATCAAAATGAGAAAAAAAAAAGCAGTGGAGATGCCGGGGGAGTGATAGATTTTCATATGGCTGAACTGTAGCATTTACATGATCTTTTGTCTGAGGCTATCCATTTCATTAATCTGTCTGATATCA... |
Task1_train_5266 | Given this context: Chromosome 2, gene SATB2 (SATB homeobox 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Chromosome 2q32-q33 deletion syndrome | TGATTAAAATAAGCTGTGATTAATATGTGGAATAAATTGCTTTTTCCTTGCTGTTTTATTTCTACTTCATTTGTACTGAACTAAGATAGGCCCTGAATAAAAATTCCATGAAAAGTCAGTGGTTCCCTGAAGCAAGTCCTTGGCCTTGTGTTGGTTCAAGATAGAAGTCTAATCCAGTTCACATCAAAATGAGAAAAAAAAAAGCAGTGGAGATGCCGGGGGAGTGATAGATTTTCATATGGCTGAACTGTAGCATTTACATGATCTTTTGTCTGAGGCTATCCATTTCATTAATCTGTCTGATATCAAAGAGTATGTTA... | TGATTAAAATAAGCTGTGATTAATATGTGGAATAAATTGCTTTTTCCTTGCTGTTTTATTTCTACTTCATTTGTACTGAACTAAGATAGGCCCTGAATAAAAATTCCATGAAAAGTCAGTGGTTCCCTGAAGCAAGTCCTTGGCCTTGTGTTGGTTCAAGATAGAAGTCTAATCCAGTTCACATCAAAATGAGAAAAAAAAAAGCAGTGGAGATGCCGGGGGAGTGATAGATTTTCATATGGCTGAACTGTAGCATTTACATGATCTTTTGTCTGAGGCTATCCATTTCATTAATCTGTCTGATATCAAAGAGTATGTTA... |
Task1_train_5267 | This mutation is located in gene SATB2 (SATB homeobox 2) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Intellectual disability | GGCAGTATCATTTTTAAAAAAAAAACATAATAAACATAGTGCCTGAATTGCCTATCTAGTCAGCTATTTACAATAAGGTTCCCCACTCATAGATGAAAATGAGATCATTGTCCCAGTGAAAAAGGAACAACCTCAAAGCATCTTATCCTCACTTAAGCTCAATCTTACCTTCAGCATATTAATTCCCAGAACTATGTTCTTCTCCAAATTCTACGAAATCAGGGCTACTGATTTCTTCAGGAGACATCAAAAATTTGGAGAGCTAAGCTTCTGCCAGTTGGCAAAAGCAGCTTTCAATCAGCTACCTGAATTATTTTAGG... | GGCAGTATCATTTTTAAAAAAAAAACATAATAAACATAGTGCCTGAATTGCCTATCTAGTCAGCTATTTACAATAAGGTTCCCCACTCATAGATGAAAATGAGATCATTGTCCCAGTGAAAAAGGAACAACCTCAAAGCATCTTATCCTCACTTAAGCTCAATCTTACCTTCAGCATATTAATTCCCAGAACTATGTTCTTCTCCAAATTCTACGAAATCAGGGCTACTGATTTCTTCAGGAGACATCAAAAATTTGGAGAGCTAAGCTTCTGCCAGTTGGCAAAAGCAGCTTTCAATCAGCTACCTGAATTATTTTAGG... |
Task1_train_5268 | A mutation on Chromosome 2 affecting SATB2 (SATB homeobox 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Chromosome 2q32-q33 deletion syndrome | AGTATGTATGTCCCCAGATTTTTTTTTAAGTAAACAAAAATGCTTGGTTATACTCATCCAAAGTAAGCAGTCAAGAGACTTATTTTTGGTTCAAACAGTAACTAAAACTCATAATTCACTAAAGACTGAAGTGTAAGTAACACAATTTGGCAGTGCATGATAGAAAGTAATCTTCAATTAAAAGTTTATTGCAGAGTACAAAAATATAAAAAGAGTTAAAATGTGTGAAAAAATGGATATACTTGAAAAAGCTCAAATATTTCTACTAGGATACAATTCTGCTTCTATGCTTAATCAGTTCCTTAGAATTTATCAGAAAA... | AGTATGTATGTCCCCAGATTTTTTTTTAAGTAAACAAAAATGCTTGGTTATACTCATCCAAAGTAAGCAGTCAAGAGACTTATTTTTGGTTCAAACAGTAACTAAAACTCATAATTCACTAAAGACTGAAGTGTAAGTAACACAATTTGGCAGTGCATGATAGAAAGTAATCTTCAATTAAAAGTTTATTGCAGAGTACAAAAATATAAAAAGAGTTAAAATGTGTGAAAAAATGGATATACTTGAAAAAGCTCAAATATTTCTACTAGGATACAATTCTGCTTCTATGCTTAATCAGTTCCTTAGAATTTATCAGAAAA... |
Task1_train_5269 | This variant affects the gene SATB2 (SATB homeobox 2) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Chromosome 2q32-q33 deletion syndrome | TTTTTGGTTCAAACAGTAACTAAAACTCATAATTCACTAAAGACTGAAGTGTAAGTAACACAATTTGGCAGTGCATGATAGAAAGTAATCTTCAATTAAAAGTTTATTGCAGAGTACAAAAATATAAAAAGAGTTAAAATGTGTGAAAAAATGGATATACTTGAAAAAGCTCAAATATTTCTACTAGGATACAATTCTGCTTCTATGCTTAATCAGTTCCTTAGAATTTATCAGAAAACGCAAAACCAAAGCTATAATATCTAAGCAAAACAACCTTTGGTTTTGAACCGCCCATTTTTCAGCTTTGTATAAATGTATAT... | TTTTTGGTTCAAACAGTAACTAAAACTCATAATTCACTAAAGACTGAAGTGTAAGTAACACAATTTGGCAGTGCATGATAGAAAGTAATCTTCAATTAAAAGTTTATTGCAGAGTACAAAAATATAAAAAGAGTTAAAATGTGTGAAAAAATGGATATACTTGAAAAAGCTCAAATATTTCTACTAGGATACAATTCTGCTTCTATGCTTAATCAGTTCCTTAGAATTTATCAGAAAACGCAAAACCAAAGCTATAATATCTAAGCAAAACAACCTTTGGTTTTGAACCGCCCATTTTTCAGCTTTGTATAAATGTATAT... |
Task1_train_5270 | This variant affects the gene SATB2 (SATB homeobox 2) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | TCAAACAGTAACTAAAACTCATAATTCACTAAAGACTGAAGTGTAAGTAACACAATTTGGCAGTGCATGATAGAAAGTAATCTTCAATTAAAAGTTTATTGCAGAGTACAAAAATATAAAAAGAGTTAAAATGTGTGAAAAAATGGATATACTTGAAAAAGCTCAAATATTTCTACTAGGATACAATTCTGCTTCTATGCTTAATCAGTTCCTTAGAATTTATCAGAAAACGCAAAACCAAAGCTATAATATCTAAGCAAAACAACCTTTGGTTTTGAACCGCCCATTTTTCAGCTTTGTATAAATGTATATCCATTAGG... | TCAAACAGTAACTAAAACTCATAATTCACTAAAGACTGAAGTGTAAGTAACACAATTTGGCAGTGCATGATAGAAAGTAATCTTCAATTAAAAGTTTATTGCAGAGTACAAAAATATAAAAAGAGTTAAAATGTGTGAAAAAATGGATATACTTGAAAAAGCTCAAATATTTCTACTAGGATACAATTCTGCTTCTATGCTTAATCAGTTCCTTAGAATTTATCAGAAAACGCAAAACCAAAGCTATAATATCTAAGCAAAACAACCTTTGGTTTTGAACCGCCCATTTTTCAGCTTTGTATAAATGTATATCCATTAGG... |
Task1_train_5271 | This sequence variant lies in SATB2 (SATB homeobox 2) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Chromosome 2q32-q33 deletion syndrome | TCAAACAGTAACTAAAACTCATAATTCACTAAAGACTGAAGTGTAAGTAACACAATTTGGCAGTGCATGATAGAAAGTAATCTTCAATTAAAAGTTTATTGCAGAGTACAAAAATATAAAAAGAGTTAAAATGTGTGAAAAAATGGATATACTTGAAAAAGCTCAAATATTTCTACTAGGATACAATTCTGCTTCTATGCTTAATCAGTTCCTTAGAATTTATCAGAAAACGCAAAACCAAAGCTATAATATCTAAGCAAAACAACCTTTGGTTTTGAACCGCCCATTTTTCAGCTTTGTATAAATGTATATCCATTAGG... | TCAAACAGTAACTAAAACTCATAATTCACTAAAGACTGAAGTGTAAGTAACACAATTTGGCAGTGCATGATAGAAAGTAATCTTCAATTAAAAGTTTATTGCAGAGTACAAAAATATAAAAAGAGTTAAAATGTGTGAAAAAATGGATATACTTGAAAAAGCTCAAATATTTCTACTAGGATACAATTCTGCTTCTATGCTTAATCAGTTCCTTAGAATTTATCAGAAAACGCAAAACCAAAGCTATAATATCTAAGCAAAACAACCTTTGGTTTTGAACCGCCCATTTTTCAGCTTTGTATAAATGTATATCCATTAGG... |
Task1_train_5272 | A variant has been detected on Chromosome 2 in SATB2 (SATB homeobox 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Chromosome 2q32-q33 deletion syndrome | AACTAAAACTCATAATTCACTAAAGACTGAAGTGTAAGTAACACAATTTGGCAGTGCATGATAGAAAGTAATCTTCAATTAAAAGTTTATTGCAGAGTACAAAAATATAAAAAGAGTTAAAATGTGTGAAAAAATGGATATACTTGAAAAAGCTCAAATATTTCTACTAGGATACAATTCTGCTTCTATGCTTAATCAGTTCCTTAGAATTTATCAGAAAACGCAAAACCAAAGCTATAATATCTAAGCAAAACAACCTTTGGTTTTGAACCGCCCATTTTTCAGCTTTGTATAAATGTATATCCATTAGGTCGGGCACG... | AACTAAAACTCATAATTCACTAAAGACTGAAGTGTAAGTAACACAATTTGGCAGTGCATGATAGAAAGTAATCTTCAATTAAAAGTTTATTGCAGAGTACAAAAATATAAAAAGAGTTAAAATGTGTGAAAAAATGGATATACTTGAAAAAGCTCAAATATTTCTACTAGGATACAATTCTGCTTCTATGCTTAATCAGTTCCTTAGAATTTATCAGAAAACGCAAAACCAAAGCTATAATATCTAAGCAAAACAACCTTTGGTTTTGAACCGCCCATTTTTCAGCTTTGTATAAATGTATATCCATTAGGTCGGGCACG... |
Task1_train_5273 | A mutation found in SATB2 (SATB homeobox 2) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Chromosome 2q32-q33 deletion syndrome | AATTCACTAAAGACTGAAGTGTAAGTAACACAATTTGGCAGTGCATGATAGAAAGTAATCTTCAATTAAAAGTTTATTGCAGAGTACAAAAATATAAAAAGAGTTAAAATGTGTGAAAAAATGGATATACTTGAAAAAGCTCAAATATTTCTACTAGGATACAATTCTGCTTCTATGCTTAATCAGTTCCTTAGAATTTATCAGAAAACGCAAAACCAAAGCTATAATATCTAAGCAAAACAACCTTTGGTTTTGAACCGCCCATTTTTCAGCTTTGTATAAATGTATATCCATTAGGTCGGGCACGGTGGCTCATGCCT... | AATTCACTAAAGACTGAAGTGTAAGTAACACAATTTGGCAGTGCATGATAGAAAGTAATCTTCAATTAAAAGTTTATTGCAGAGTACAAAAATATAAAAAGAGTTAAAATGTGTGAAAAAATGGATATACTTGAAAAAGCTCAAATATTTCTACTAGGATACAATTCTGCTTCTATGCTTAATCAGTTCCTTAGAATTTATCAGAAAACGCAAAACCAAAGCTATAATATCTAAGCAAAACAACCTTTGGTTTTGAACCGCCCATTTTTCAGCTTTGTATAAATGTATATCCATTAGGTCGGGCACGGTGGCTCATGCCT... |
Task1_train_5274 | The gene SATB2 (SATB homeobox 2) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Chromosome 2q32-q33 deletion syndrome | ACCTCAATGTTTTCTTGCAAGAGACGTGGAAACCAAAAGTAAACAGACCCTCTTTAACAATGAACCACTGATAAACATAAAATATTTATAACTGGTATAACATTTCACTTAGGTGCATTTTTTGAGTGTTAACTTGCATCAGGCAATCCAATTTACCAACATTTATCAGATTTCTCCCCAGTGAGAGTTTTCACTTAACTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGGGATTCTTCTGCCTC... | ACCTCAATGTTTTCTTGCAAGAGACGTGGAAACCAAAAGTAAACAGACCCTCTTTAACAATGAACCACTGATAAACATAAAATATTTATAACTGGTATAACATTTCACTTAGGTGCATTTTTTGAGTGTTAACTTGCATCAGGCAATCCAATTTACCAACATTTATCAGATTTCTCCCCAGTGAGAGTTTTCACTTAACTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGGGATTCTTCTGCCTC... |
Task1_train_5275 | A variant was discovered in gene SATB2 (SATB homeobox 2), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Developmental disorder | ACCTCAATGTTTTCTTGCAAGAGACGTGGAAACCAAAAGTAAACAGACCCTCTTTAACAATGAACCACTGATAAACATAAAATATTTATAACTGGTATAACATTTCACTTAGGTGCATTTTTTGAGTGTTAACTTGCATCAGGCAATCCAATTTACCAACATTTATCAGATTTCTCCCCAGTGAGAGTTTTCACTTAACTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGGGATTCTTCTGCCTC... | ACCTCAATGTTTTCTTGCAAGAGACGTGGAAACCAAAAGTAAACAGACCCTCTTTAACAATGAACCACTGATAAACATAAAATATTTATAACTGGTATAACATTTCACTTAGGTGCATTTTTTGAGTGTTAACTTGCATCAGGCAATCCAATTTACCAACATTTATCAGATTTCTCCCCAGTGAGAGTTTTCACTTAACTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGGGATTCTTCTGCCTC... |
Task1_train_5276 | The gene CASP10 (caspase 10) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Non-Hodgkin lymphoma | GACAGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGCGAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCTACCTCAACCAAAAATACAAAAATTATCGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACGAGGTGGGCGGATCACAAGGTCAAGAGATCAAGACCATCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTACCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA... | GACAGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGCGAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCTACCTCAACCAAAAATACAAAAATTATCGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACGAGGTGGGCGGATCACAAGGTCAAGAGATCAAGACCATCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTACCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA... |
Task1_train_5277 | A mutation found in CASP8 (caspase 8) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autoimmune lymphoproliferative syndrome type 2B | GACCTTATGTTGTCCTATGTGCTACATATTTCATTACCAGTGTACCTTTCCTGCCATGTCTCATTCTAGATGTGTCTCTTCGTTGTTTGCAGGGGAGGAGTTGTGTGGGGTAATGACAATCTCGGACTCTCCAAGAGAACAGGATAGTGAATCACAGGTAGACGGAAACCTCCAAATCCTTTTTTTTACATTACAGATTCTAGTTATTTAATTTGTTAGCTTTTTTTTTTTTTTGCTGCCAGATAAACTGACAAGGGGCAGAAACTTACTGAAAATTTTGAGAACTGTAGAAAAAATTCACACAAAAAAAGTTAAAAATG... | GACCTTATGTTGTCCTATGTGCTACATATTTCATTACCAGTGTACCTTTCCTGCCATGTCTCATTCTAGATGTGTCTCTTCGTTGTTTGCAGGGGAGGAGTTGTGTGGGGTAATGACAATCTCGGACTCTCCAAGAGAACAGGATAGTGAATCACAGGTAGACGGAAACCTCCAAATCCTTTTTTTTACATTACAGATTCTAGTTATTTAATTTGTTAGCTTTTTTTTTTTTTTGCTGCCAGATAAACTGACAAGGGGCAGAAACTTACTGAAAATTTTGAGAACTGTAGAAAAAATTCACACAAAAAAAGTTAAAAATG... |
Task1_train_5278 | This is a variant in C2CD6 (C2 calcium dependent domain containing 6), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Spermatogenic failure 68 | TGACCTTAAGAAAGGTCCTTAACCACAGAGTGCCTCAGTTTCTTCATCCGTAAAATAAGGATGATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTTGTAATAAAGACTGACTAAGTTAATCCTTAAAAAAATAATTAGAGACAAAGGGGAATACAGGATAGAAGAAAAGGAATGGGAAAGGAGATGGGAAAAACTCTAAGGTGGAAGACAGTAGATGGGAAGAGAAGAGCAAGATAGAGATAAATACATGCAGAATGAATACTGGAAACCACAGACAGTAACATCTCAGGAAAGAAATCTACT... | TGACCTTAAGAAAGGTCCTTAACCACAGAGTGCCTCAGTTTCTTCATCCGTAAAATAAGGATGATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTTGTAATAAAGACTGACTAAGTTAATCCTTAAAAAAATAATTAGAGACAAAGGGGAATACAGGATAGAAGAAAAGGAATGGGAAAGGAGATGGGAAAAACTCTAAGGTGGAAGACAGTAGATGGGAAGAGAAGAGCAAGATAGAGATAAATACATGCAGAATGAATACTGGAAACCACAGACAGTAACATCTCAGGAAAGAAATCTACT... |
Task1_train_5279 | The gene MPP4 (MAGUK p55 scaffold protein 4), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Global developmental delay | GGAACGTATCTCAAAATAATAAGAGCTATTTATGACAAACGCACAGCCAGAATCATACTGAATGGGAATGGATGAAGCTGGAAACCATCATTCCCAGCAAACTAAGACAGGAACAGAAAACCAAACACCGCATTTTCTCACTCATAAATGGGAGTTGAACTATGAGAACACGTCGACACAGGGAGGGGAACATCACACACTGGGGGCCTGTTGGCCGGTGGGGGCTAAGGGGAGGGATAGCATTAGGACAAATACCTAATGTAGATAATGGGTTAATAGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAA... | GGAACGTATCTCAAAATAATAAGAGCTATTTATGACAAACGCACAGCCAGAATCATACTGAATGGGAATGGATGAAGCTGGAAACCATCATTCCCAGCAAACTAAGACAGGAACAGAAAACCAAACACCGCATTTTCTCACTCATAAATGGGAGTTGAACTATGAGAACACGTCGACACAGGGAGGGGAACATCACACACTGGGGGCCTGTTGGCCGGTGGGGGCTAAGGGGAGGGATAGCATTAGGACAAATACCTAATGTAGATAATGGGTTAATAGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAA... |
Task1_train_5280 | A mutation found in MPP4 (MAGUK p55 scaffold protein 4) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Generalized hypotonia | GGAACGTATCTCAAAATAATAAGAGCTATTTATGACAAACGCACAGCCAGAATCATACTGAATGGGAATGGATGAAGCTGGAAACCATCATTCCCAGCAAACTAAGACAGGAACAGAAAACCAAACACCGCATTTTCTCACTCATAAATGGGAGTTGAACTATGAGAACACGTCGACACAGGGAGGGGAACATCACACACTGGGGGCCTGTTGGCCGGTGGGGGCTAAGGGGAGGGATAGCATTAGGACAAATACCTAATGTAGATAATGGGTTAATAGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAA... | GGAACGTATCTCAAAATAATAAGAGCTATTTATGACAAACGCACAGCCAGAATCATACTGAATGGGAATGGATGAAGCTGGAAACCATCATTCCCAGCAAACTAAGACAGGAACAGAAAACCAAACACCGCATTTTCTCACTCATAAATGGGAGTTGAACTATGAGAACACGTCGACACAGGGAGGGGAACATCACACACTGGGGGCCTGTTGGCCGGTGGGGGCTAAGGGGAGGGATAGCATTAGGACAAATACCTAATGTAGATAATGGGTTAATAGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAA... |
Task1_train_5281 | The gene MPP4 (MAGUK p55 scaffold protein 4) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Strabismus | GGAACGTATCTCAAAATAATAAGAGCTATTTATGACAAACGCACAGCCAGAATCATACTGAATGGGAATGGATGAAGCTGGAAACCATCATTCCCAGCAAACTAAGACAGGAACAGAAAACCAAACACCGCATTTTCTCACTCATAAATGGGAGTTGAACTATGAGAACACGTCGACACAGGGAGGGGAACATCACACACTGGGGGCCTGTTGGCCGGTGGGGGCTAAGGGGAGGGATAGCATTAGGACAAATACCTAATGTAGATAATGGGTTAATAGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAA... | GGAACGTATCTCAAAATAATAAGAGCTATTTATGACAAACGCACAGCCAGAATCATACTGAATGGGAATGGATGAAGCTGGAAACCATCATTCCCAGCAAACTAAGACAGGAACAGAAAACCAAACACCGCATTTTCTCACTCATAAATGGGAGTTGAACTATGAGAACACGTCGACACAGGGAGGGGAACATCACACACTGGGGGCCTGTTGGCCGGTGGGGGCTAAGGGGAGGGATAGCATTAGGACAAATACCTAATGTAGATAATGGGTTAATAGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAA... |
Task1_train_5282 | The gene MPP4 (MAGUK p55 scaffold protein 4) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Wide nasal bridge | GGAACGTATCTCAAAATAATAAGAGCTATTTATGACAAACGCACAGCCAGAATCATACTGAATGGGAATGGATGAAGCTGGAAACCATCATTCCCAGCAAACTAAGACAGGAACAGAAAACCAAACACCGCATTTTCTCACTCATAAATGGGAGTTGAACTATGAGAACACGTCGACACAGGGAGGGGAACATCACACACTGGGGGCCTGTTGGCCGGTGGGGGCTAAGGGGAGGGATAGCATTAGGACAAATACCTAATGTAGATAATGGGTTAATAGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAA... | GGAACGTATCTCAAAATAATAAGAGCTATTTATGACAAACGCACAGCCAGAATCATACTGAATGGGAATGGATGAAGCTGGAAACCATCATTCCCAGCAAACTAAGACAGGAACAGAAAACCAAACACCGCATTTTCTCACTCATAAATGGGAGTTGAACTATGAGAACACGTCGACACAGGGAGGGGAACATCACACACTGGGGGCCTGTTGGCCGGTGGGGGCTAAGGGGAGGGATAGCATTAGGACAAATACCTAATGTAGATAATGGGTTAATAGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAA... |
Task1_train_5283 | This mutation occurs in MPP4 (MAGUK p55 scaffold protein 4) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; High palate | GGAACGTATCTCAAAATAATAAGAGCTATTTATGACAAACGCACAGCCAGAATCATACTGAATGGGAATGGATGAAGCTGGAAACCATCATTCCCAGCAAACTAAGACAGGAACAGAAAACCAAACACCGCATTTTCTCACTCATAAATGGGAGTTGAACTATGAGAACACGTCGACACAGGGAGGGGAACATCACACACTGGGGGCCTGTTGGCCGGTGGGGGCTAAGGGGAGGGATAGCATTAGGACAAATACCTAATGTAGATAATGGGTTAATAGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAA... | GGAACGTATCTCAAAATAATAAGAGCTATTTATGACAAACGCACAGCCAGAATCATACTGAATGGGAATGGATGAAGCTGGAAACCATCATTCCCAGCAAACTAAGACAGGAACAGAAAACCAAACACCGCATTTTCTCACTCATAAATGGGAGTTGAACTATGAGAACACGTCGACACAGGGAGGGGAACATCACACACTGGGGGCCTGTTGGCCGGTGGGGGCTAAGGGGAGGGATAGCATTAGGACAAATACCTAATGTAGATAATGGGTTAATAGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAA... |
Task1_train_5284 | A variant has been detected on Chromosome 2 in MPP4 (MAGUK p55 scaffold protein 4). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Seizure | GGAACGTATCTCAAAATAATAAGAGCTATTTATGACAAACGCACAGCCAGAATCATACTGAATGGGAATGGATGAAGCTGGAAACCATCATTCCCAGCAAACTAAGACAGGAACAGAAAACCAAACACCGCATTTTCTCACTCATAAATGGGAGTTGAACTATGAGAACACGTCGACACAGGGAGGGGAACATCACACACTGGGGGCCTGTTGGCCGGTGGGGGCTAAGGGGAGGGATAGCATTAGGACAAATACCTAATGTAGATAATGGGTTAATAGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAA... | GGAACGTATCTCAAAATAATAAGAGCTATTTATGACAAACGCACAGCCAGAATCATACTGAATGGGAATGGATGAAGCTGGAAACCATCATTCCCAGCAAACTAAGACAGGAACAGAAAACCAAACACCGCATTTTCTCACTCATAAATGGGAGTTGAACTATGAGAACACGTCGACACAGGGAGGGGAACATCACACACTGGGGGCCTGTTGGCCGGTGGGGGCTAAGGGGAGGGATAGCATTAGGACAAATACCTAATGTAGATAATGGGTTAATAGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAA... |
Task1_train_5285 | Consider a variant on Chromosome 2 in gene MPP4 (MAGUK p55 scaffold protein 4). Determine its clinical classification and disease relevance. | Pathogenic; Intellectual disability | GGAACGTATCTCAAAATAATAAGAGCTATTTATGACAAACGCACAGCCAGAATCATACTGAATGGGAATGGATGAAGCTGGAAACCATCATTCCCAGCAAACTAAGACAGGAACAGAAAACCAAACACCGCATTTTCTCACTCATAAATGGGAGTTGAACTATGAGAACACGTCGACACAGGGAGGGGAACATCACACACTGGGGGCCTGTTGGCCGGTGGGGGCTAAGGGGAGGGATAGCATTAGGACAAATACCTAATGTAGATAATGGGTTAATAGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAA... | GGAACGTATCTCAAAATAATAAGAGCTATTTATGACAAACGCACAGCCAGAATCATACTGAATGGGAATGGATGAAGCTGGAAACCATCATTCCCAGCAAACTAAGACAGGAACAGAAAACCAAACACCGCATTTTCTCACTCATAAATGGGAGTTGAACTATGAGAACACGTCGACACAGGGAGGGGAACATCACACACTGGGGGCCTGTTGGCCGGTGGGGGCTAAGGGGAGGGATAGCATTAGGACAAATACCTAATGTAGATAATGGGTTAATAGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAA... |
Task1_train_5286 | Here is a genetic alteration in ALS2 (alsin Rho guanine nucleotide exchange factor ALS2) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Infantile-onset ascending hereditary spastic paralysis | TGGTTGGAAAGAATGGATAATTATCACATGCACATTGAATTCTGATGCTCATTTTTACAAAGTTTAGAAAATCCAAAACCATACTCAGTCTCACTGGTAGCTATAATTATTTGTTTATATGATTATTTTTCACCAATTAAAAAAACCTCATTTTCGAATGATTAAAGTTAAAAAGTTAAAGACACCATGTGTGGTATTTTGCATTAACATGAAAAACAATGTGTTTTTATTCTCTTATGGGAAAATGAAATAATGAGTTATTTTTAAGAGGGAAGAATAAAAGTTTTGTCCATTAGAATCCTATATGTCTTATTATAGAT... | TGGTTGGAAAGAATGGATAATTATCACATGCACATTGAATTCTGATGCTCATTTTTACAAAGTTTAGAAAATCCAAAACCATACTCAGTCTCACTGGTAGCTATAATTATTTGTTTATATGATTATTTTTCACCAATTAAAAAAACCTCATTTTCGAATGATTAAAGTTAAAAAGTTAAAGACACCATGTGTGGTATTTTGCATTAACATGAAAAACAATGTGTTTTTATTCTCTTATGGGAAAATGAAATAATGAGTTATTTTTAAGAGGGAAGAATAAAAGTTTTGTCCATTAGAATCCTATATGTCTTATTATAGAT... |
Task1_train_5287 | A genomic change on Chromosome 2 affects ALS2 (alsin Rho guanine nucleotide exchange factor ALS2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Juvenile primary lateral sclerosis | TCCTAATATTAATATTTATACAAGTTATGTTAGTTTTTTGGCTAGCCTAGTATGTGAAATGTGCAATCAAATCAAATATTAAAAGGGCTTCGAATCCTTTATTGGCTTCTTAAAAAGATAAAGGAATTGGTGAAGCACCATTATCGAAATATGAATATATTTAATATTAACTTATTGCAGATGAGCAGTCTGGGTTTAAAAAAAAACTTAAAACAACTTCTTTATGTTTATGTACATGGGTATGGTTTTTAGTAATGCTAGAGGTCACTTTCAGGTCCCACAGTTTTAAAGAAAAATGACTTTATTTTCTTAGTGTTTTA... | TCCTAATATTAATATTTATACAAGTTATGTTAGTTTTTTGGCTAGCCTAGTATGTGAAATGTGCAATCAAATCAAATATTAAAAGGGCTTCGAATCCTTTATTGGCTTCTTAAAAAGATAAAGGAATTGGTGAAGCACCATTATCGAAATATGAATATATTTAATATTAACTTATTGCAGATGAGCAGTCTGGGTTTAAAAAAAAACTTAAAACAACTTCTTTATGTTTATGTACATGGGTATGGTTTTTAGTAATGCTAGAGGTCACTTTCAGGTCCCACAGTTTTAAAGAAAAATGACTTTATTTTCTTAGTGTTTTA... |
Task1_train_5288 | This genomic variant is located on Chromosome 2, within the ALS2 (alsin Rho guanine nucleotide exchange factor ALS2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Infantile-onset ascending hereditary spastic paralysis | CTACTACTTTTGCTTTGTTCAGACTTTATAATACCTTTCTCCAAACAGCTTATCCTTGATTTTTTTAAAAATTCAAATACCCACAAGTTTCAGTGAATAGATTGTGAAATAAAGACTATTTCTAAAAATACCTTCATGTTCACATTCTGACAGAGTAAACAATAAGAATTGAGAATCAAGAGGCTATGTGGTTTCAAAAACCTAAAAAGAAACACTGCAGGACAGATCTTTTATGAGTATGATCTTTTGTTTTGTTTTCTTACAGTTTTGGTAAAGCAAAATCAAAAGGCCACACTAAGAGTAAAACACAGAAATAATCC... | CTACTACTTTTGCTTTGTTCAGACTTTATAATACCTTTCTCCAAACAGCTTATCCTTGATTTTTTTAAAAATTCAAATACCCACAAGTTTCAGTGAATAGATTGTGAAATAAAGACTATTTCTAAAAATACCTTCATGTTCACATTCTGACAGAGTAAACAATAAGAATTGAGAATCAAGAGGCTATGTGGTTTCAAAAACCTAAAAAGAAACACTGCAGGACAGATCTTTTATGAGTATGATCTTTTGTTTTGTTTTCTTACAGTTTTGGTAAAGCAAAATCAAAAGGCCACACTAAGAGTAAAACACAGAAATAATCC... |
Task1_train_5289 | Located on Chromosome 2, this mutation impacts BMPR2 (bone morphogenetic protein receptor type 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Pulmonary hypertension, primary, 1 | GCCCTAAAAAGCCCTCAAGGCCCCCAGCCTTGGTGAATCCAGGCCCTCTCTCGGGGTGGGCACCGCGCTGTACGGACAGACGCGCGCACGCAGCGGGACGATTTATAGAATTAAAAGTCTTTTTTTTTTTTCTGGCTTCGCATCCTTGCAAATACTCAATATTCCTGTCAACTAAGAAGGCTAAGGGAATGGGCGGTTGAGGAAAGCAGGACGTCGATTACAGCGAACACATCAAAGGGGTGGTCTTTCCAATTCCGGCTTTTGTTTGAGTCAGAGGGGAGCCTGAGGAGGCCAAGGTCTCCGGTTCTGGGAAAGGCGGG... | GCCCTAAAAAGCCCTCAAGGCCCCCAGCCTTGGTGAATCCAGGCCCTCTCTCGGGGTGGGCACCGCGCTGTACGGACAGACGCGCGCACGCAGCGGGACGATTTATAGAATTAAAAGTCTTTTTTTTTTTTCTGGCTTCGCATCCTTGCAAATACTCAATATTCCTGTCAACTAAGAAGGCTAAGGGAATGGGCGGTTGAGGAAAGCAGGACGTCGATTACAGCGAACACATCAAAGGGGTGGTCTTTCCAATTCCGGCTTTTGTTTGAGTCAGAGGGGAGCCTGAGGAGGCCAAGGTCTCCGGTTCTGGGAAAGGCGGG... |
Task1_train_5290 | A mutation on Chromosome 2 affecting BMPR2 (bone morphogenetic protein receptor type 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Pulmonary hypertension, primary, 1 | CCCTCTCTCGGGGTGGGCACCGCGCTGTACGGACAGACGCGCGCACGCAGCGGGACGATTTATAGAATTAAAAGTCTTTTTTTTTTTTCTGGCTTCGCATCCTTGCAAATACTCAATATTCCTGTCAACTAAGAAGGCTAAGGGAATGGGCGGTTGAGGAAAGCAGGACGTCGATTACAGCGAACACATCAAAGGGGTGGTCTTTCCAATTCCGGCTTTTGTTTGAGTCAGAGGGGAGCCTGAGGAGGCCAAGGTCTCCGGTTCTGGGAAAGGCGGGTCCATCCGGATTCTTTGGGCTGCGGAGAGGGAGGTTCCAGCCC... | CCCTCTCTCGGGGTGGGCACCGCGCTGTACGGACAGACGCGCGCACGCAGCGGGACGATTTATAGAATTAAAAGTCTTTTTTTTTTTTCTGGCTTCGCATCCTTGCAAATACTCAATATTCCTGTCAACTAAGAAGGCTAAGGGAATGGGCGGTTGAGGAAAGCAGGACGTCGATTACAGCGAACACATCAAAGGGGTGGTCTTTCCAATTCCGGCTTTTGTTTGAGTCAGAGGGGAGCCTGAGGAGGCCAAGGTCTCCGGTTCTGGGAAAGGCGGGTCCATCCGGATTCTTTGGGCTGCGGAGAGGGAGGTTCCAGCCC... |
Task1_train_5291 | Here is a variant affecting BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Pulmonary arterial hypertension | CTCACTGCAACCTACACCTCCCAGGTTCATGTGATTCTCTTGCCTCAGCTCCTGAATAGCTGGGATTACAGGCGTACACCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAAT... | CTCACTGCAACCTACACCTCCCAGGTTCATGTGATTCTCTTGCCTCAGCTCCTGAATAGCTGGGATTACAGGCGTACACCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAAT... |
Task1_train_5292 | This variant affects the gene BMPR2 (bone morphogenetic protein receptor type 2) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Pulmonary arterial hypertension | TTCATGTGATTCTCTTGCCTCAGCTCCTGAATAGCTGGGATTACAGGCGTACACCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATA... | TTCATGTGATTCTCTTGCCTCAGCTCCTGAATAGCTGGGATTACAGGCGTACACCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATA... |
Task1_train_5293 | A genomic change on Chromosome 2 affects BMPR2 (bone morphogenetic protein receptor type 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Pulmonary arterial hypertension | TGCCTCAGCTCCTGAATAGCTGGGATTACAGGCGTACACCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAA... | TGCCTCAGCTCCTGAATAGCTGGGATTACAGGCGTACACCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAA... |
Task1_train_5294 | Mutation context: Chromosome 2, Gene BMPR2 (bone morphogenetic protein receptor type 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Pulmonary hypertension, primary, 1 | CCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAAC... | CCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAAC... |
Task1_train_5295 | A variant has been detected on Chromosome 2 in BMPR2 (bone morphogenetic protein receptor type 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Pulmonary hypertension, primary, 1 | CCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAAC... | CCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAAC... |
Task1_train_5296 | This alteration in BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Pulmonary hypertension, primary, 1 | CACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACC... | CACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACC... |
Task1_train_5297 | A genomic change on Chromosome 2 affects BMPR2 (bone morphogenetic protein receptor type 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Pulmonary hypertension, primary, 1 | TTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGAACAGTGGTTTCCT... | TTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGAACAGTGGTTTCCT... |
Task1_train_5298 | A variant affecting Chromosome 2, within the gene BMPR2 (bone morphogenetic protein receptor type 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Pulmonary hypertension, primary, 1 | TTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGAACAGTGGTTTCCT... | TTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGAACAGTGGTTTCCT... |
Task1_train_5299 | Here is a genetic alteration in BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Pulmonary hypertension, primary, 1 | TTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGAACAGTGGTTTCCTG... | TTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGAACAGTGGTTTCCTG... |
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