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_9600 | Given a variant located on Chromosome 5 and affecting LOC126807536, YIPF5 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:143543592-143544791| Yip1 domain family member 5), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Microcephaly, epilepsy, and diabetes syndrome 2 | AATAAAGAACAGTACTTACTGCAAAGAAAATATCACTGCAAAGCTGGAAAGTAGGATCATGGGCAGAAGACAATATCCAAGGACACTTGCCACACAACCAAATGAAACACCTGTCATACTCATTAAGTTTAATAAACAAAACATTCCTAGACATCCAATTGCACTGATCCCGTATACATAGCCAAACTGGATTTTGCCAGCCTATGGGTAAAGAAGATTACAGGTTAAAGGGCAAAAAATAAGTTATTTCTGGCCTTATTTCACCTGAATCAGTACATGTAGCAAATAATTTATGAGCATCAAAATCTACTAATCTATCT... | AATAAAGAACAGTACTTACTGCAAAGAAAATATCACTGCAAAGCTGGAAAGTAGGATCATGGGCAGAAGACAATATCCAAGGACACTTGCCACACAACCAAATGAAACACCTGTCATACTCATTAAGTTTAATAAACAAAACATTCCTAGACATCCAATTGCACTGATCCCGTATACATAGCCAAACTGGATTTTGCCAGCCTATGGGTAAAGAAGATTACAGGTTAAAGGGCAAAAAATAAGTTATTTCTGGCCTTATTTCACCTGAATCAGTACATGTAGCAAATAATTTATGAGCATCAAAATCTACTAATCTATCT... |
Task1_train_9601 | A variant has been detected on Chromosome 5 in LOC126807536, YIPF5 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:143543592-143544791| Yip1 domain family member 5). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Microcephaly, epilepsy, and diabetes syndrome 2 | AAAGAACAGTACTTACTGCAAAGAAAATATCACTGCAAAGCTGGAAAGTAGGATCATGGGCAGAAGACAATATCCAAGGACACTTGCCACACAACCAAATGAAACACCTGTCATACTCATTAAGTTTAATAAACAAAACATTCCTAGACATCCAATTGCACTGATCCCGTATACATAGCCAAACTGGATTTTGCCAGCCTATGGGTAAAGAAGATTACAGGTTAAAGGGCAAAAAATAAGTTATTTCTGGCCTTATTTCACCTGAATCAGTACATGTAGCAAATAATTTATGAGCATCAAAATCTACTAATCTATCTATT... | AAAGAACAGTACTTACTGCAAAGAAAATATCACTGCAAAGCTGGAAAGTAGGATCATGGGCAGAAGACAATATCCAAGGACACTTGCCACACAACCAAATGAAACACCTGTCATACTCATTAAGTTTAATAAACAAAACATTCCTAGACATCCAATTGCACTGATCCCGTATACATAGCCAAACTGGATTTTGCCAGCCTATGGGTAAAGAAGATTACAGGTTAAAGGGCAAAAAATAAGTTATTTCTGGCCTTATTTCACCTGAATCAGTACATGTAGCAAATAATTTATGAGCATCAAAATCTACTAATCTATCTATT... |
Task1_train_9602 | With a mutation on Chromosome 5 in gene GRXCR2 (glutaredoxin and cysteine rich domain containing 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hearing loss, autosomal recessive | TTGCTACCCAATGTGGTCTCATAGCCAATATTTACTAGGAAGTGTTTTACATTTGGATTCGTTATTGAAAAGTCATGACATTAGCTCTCATTTTCTTCTTTTTCATAAATACCACATTGACAAATGATTCCAGGGTGTGCAGCTACATGAATCCATCCTGGTCACTCTCATGCTCAGAATCTGGCTATGATTGGGATGGGGCACTTGATCAGGAAACAAAGAAAACAGAGATAATGAGGCCAAGCAGGAATCAGACCTTCAACATGGCCTCTAAAACACATAGAGTACTGTGTTTTAACCAACTGAGCCATGCTGCCATG... | TTGCTACCCAATGTGGTCTCATAGCCAATATTTACTAGGAAGTGTTTTACATTTGGATTCGTTATTGAAAAGTCATGACATTAGCTCTCATTTTCTTCTTTTTCATAAATACCACATTGACAAATGATTCCAGGGTGTGCAGCTACATGAATCCATCCTGGTCACTCTCATGCTCAGAATCTGGCTATGATTGGGATGGGGCACTTGATCAGGAAACAAAGAAAACAGAGATAATGAGGCCAAGCAGGAATCAGACCTTCAACATGGCCTCTAAAACACATAGAGTACTGTGTTTTAACCAACTGAGCCATGCTGCCATG... |
Task1_train_9603 | Located on Chromosome 5, this mutation impacts LARS1 (leucyl-tRNA synthetase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Infantile liver failure syndrome 1 | TTTTTTCTTTCAGGAAAACTTAGATCTAAGTTATTGAGTTCCCTTTAAGTGGATTTATCATTACCTGGCACAGCCAAAAATGTCTTCAAGCTCTACATTTCTATAGGTAATTATCAAACCAAACAACATTTAAAGTACTCAAGAACAAAGCTTCACTTTTTTCCAAACAATAAACAAGGTTACGATTTGAAATAATTTAATGAATGAATATAATGAATGAATAAATTTAATGAATGACTCCCACTGCTCAAGTTACAACAAATTCCAAAGGCAAACTCTGTCCTTTTATTTCATCATTTCAACTACACATATGAAAACCC... | TTTTTTCTTTCAGGAAAACTTAGATCTAAGTTATTGAGTTCCCTTTAAGTGGATTTATCATTACCTGGCACAGCCAAAAATGTCTTCAAGCTCTACATTTCTATAGGTAATTATCAAACCAAACAACATTTAAAGTACTCAAGAACAAAGCTTCACTTTTTTCCAAACAATAAACAAGGTTACGATTTGAAATAATTTAATGAATGAATATAATGAATGAATAAATTTAATGAATGACTCCCACTGCTCAAGTTACAACAAATTCCAAAGGCAAACTCTGTCCTTTTATTTCATCATTTCAACTACACATATGAAAACCC... |
Task1_train_9604 | This alteration occurs within gene LARS1 (leucyl-tRNA synthetase 1) located on Chromosome 5. Is it associated with a disease or is it a benign variant? | Pathogenic; Infantile liver failure syndrome 1 | TAGATATATCTTCTCCTTTGCTTCTGCAAGTTTTTCCCGGTCATTCTGGCTCTGAATTTTCAACTCATCACAAATGGTTACAGCAGAAAGATTTCCAAAACCTGGGATTTCAATGACTGGCACCTGCAGCAAACAGCAATCAGGAACGTGTTCACACTGACTGGACACACAGCTCTGTAGGGCACAAGTCCTTTTGCCTCTAATGTCCAATTAAGTCATTTCAGATTGTATATGTCATTACGACACTGCCACACATTAAGTAATCACAGAGTGACTAACTTCCAGATGTAAATTTGTCCTTCTACTCTCCACAGGAACCA... | TAGATATATCTTCTCCTTTGCTTCTGCAAGTTTTTCCCGGTCATTCTGGCTCTGAATTTTCAACTCATCACAAATGGTTACAGCAGAAAGATTTCCAAAACCTGGGATTTCAATGACTGGCACCTGCAGCAAACAGCAATCAGGAACGTGTTCACACTGACTGGACACACAGCTCTGTAGGGCACAAGTCCTTTTGCCTCTAATGTCCAATTAAGTCATTTCAGATTGTATATGTCATTACGACACTGCCACACATTAAGTAATCACAGAGTGACTAACTTCCAGATGTAAATTTGTCCTTCTACTCTCCACAGGAACCA... |
Task1_train_9605 | Here is a mutation in LOC127814297, POU4F3 (RBM27-POU4F3 readthrough| POU class 4 homeobox 3) on Chromosome 5. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | AATCCCATGGGCAAACTCTAAATTGTCTAGCACATATTAGGAACTCTTAAACGGTAGCTGTTGTCACGAGGAATGGGCTTGCAAGCTCTGGCTGCCCAGCAGAAATGCACTGAAGGACTCCCAGGCCTGGAGGGCCATCCTGAACAGTCGCTATTCTAAAAAAAATACTCCACAAGCTTCCTTAGACGGGAGGGTTGGAGGAAGAGTGGGCCAAGTTACATCCCTCAAATGAAAGAAAGAAAGGCAAGCGTGGGGAGGAAGCCACCCCGGACTGAGAAGGCAGTTACTGCCCCTACCTCTACCCCGGAGCGCGGTTGAGG... | AATCCCATGGGCAAACTCTAAATTGTCTAGCACATATTAGGAACTCTTAAACGGTAGCTGTTGTCACGAGGAATGGGCTTGCAAGCTCTGGCTGCCCAGCAGAAATGCACTGAAGGACTCCCAGGCCTGGAGGGCCATCCTGAACAGTCGCTATTCTAAAAAAAATACTCCACAAGCTTCCTTAGACGGGAGGGTTGGAGGAAGAGTGGGCCAAGTTACATCCCTCAAATGAAAGAAAGAAAGGCAAGCGTGGGGAGGAAGCCACCCCGGACTGAGAAGGCAGTTACTGCCCCTACCTCTACCCCGGAGCGCGGTTGAGG... |
Task1_train_9606 | This variant lies on Chromosome 5 and affects the gene LOC127814297, POU4F3 (RBM27-POU4F3 readthrough| POU class 4 homeobox 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 15 | GAGGAAGAGTGGGCCAAGTTACATCCCTCAAATGAAAGAAAGAAAGGCAAGCGTGGGGAGGAAGCCACCCCGGACTGAGAAGGCAGTTACTGCCCCTACCTCTACCCCGGAGCGCGGTTGAGGGAGGTGGGGCAGGGGTCACCTGGGCCTCGTTCTGGCAGCCCCTCACCCTCTCCAGGGCCCGTCTGGGCGCTTGGAGGCGCCTCCTCGCTGCGCCGCGGGACCGGACTCTGGTGGACAGCTTGGGCGTGAGGCCAGGAGCGCCCTGGAAATGGGCAGTTTGGCGGCAGCCGGGCCGACGGAGTGTGTGTGTGTGTGTG... | GAGGAAGAGTGGGCCAAGTTACATCCCTCAAATGAAAGAAAGAAAGGCAAGCGTGGGGAGGAAGCCACCCCGGACTGAGAAGGCAGTTACTGCCCCTACCTCTACCCCGGAGCGCGGTTGAGGGAGGTGGGGCAGGGGTCACCTGGGCCTCGTTCTGGCAGCCCCTCACCCTCTCCAGGGCCCGTCTGGGCGCTTGGAGGCGCCTCCTCGCTGCGCCGCGGGACCGGACTCTGGTGGACAGCTTGGGCGTGAGGCCAGGAGCGCCCTGGAAATGGGCAGTTTGGCGGCAGCCGGGCCGACGGAGTGTGTGTGTGTGTGTG... |
Task1_train_9607 | This sequence variant lies in LOC127814297, POU4F3 (RBM27-POU4F3 readthrough| POU class 4 homeobox 3) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 15 | CGCGGTTGAGGGAGGTGGGGCAGGGGTCACCTGGGCCTCGTTCTGGCAGCCCCTCACCCTCTCCAGGGCCCGTCTGGGCGCTTGGAGGCGCCTCCTCGCTGCGCCGCGGGACCGGACTCTGGTGGACAGCTTGGGCGTGAGGCCAGGAGCGCCCTGGAAATGGGCAGTTTGGCGGCAGCCGGGCCGACGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGGAGAGGGGAAGTTGGAGTAGGGTCAACTTCCTGCCCCAGCTCAGCCCAGGGCTACCCTTTTATCCAGGCAGTTCGAGCTGGGA... | CGCGGTTGAGGGAGGTGGGGCAGGGGTCACCTGGGCCTCGTTCTGGCAGCCCCTCACCCTCTCCAGGGCCCGTCTGGGCGCTTGGAGGCGCCTCCTCGCTGCGCCGCGGGACCGGACTCTGGTGGACAGCTTGGGCGTGAGGCCAGGAGCGCCCTGGAAATGGGCAGTTTGGCGGCAGCCGGGCCGACGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGGAGAGGGGAAGTTGGAGTAGGGTCAACTTCCTGCCCCAGCTCAGCCCAGGGCTACCCTTTTATCCAGGCAGTTCGAGCTGGGA... |
Task1_train_9608 | Given this variant in gene SPINK1 (serine peptidase inhibitor Kazal type 1) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary pancreatitis | TCATACTCCTCTTAACTTCAGGCTAAACTGAAAGGTGACAGCAAGGCTGCATTTTTGTTGGATCAAACTGTTCCAGTCTGAGAAATAAGAAATTACAAATATCTCTTTACCTCTCTTCCCAGGGAGTCAGCTCCAGTGTTACCTAGAAATAAATCAGATATGGTAAGTTGGGTCCTAAATGAAAGAAGTCAGATCTATTCTTCATCAGAATTCTCTGCTTTCATTGCAGACTGTGACTTCTTTACTAGGCTCTTTCATTCCCCACCCTTTCTGATTTCTCTAATCTTCCAAAAGTATCTGACTGATTTTCCTGTACCCCT... | TCATACTCCTCTTAACTTCAGGCTAAACTGAAAGGTGACAGCAAGGCTGCATTTTTGTTGGATCAAACTGTTCCAGTCTGAGAAATAAGAAATTACAAATATCTCTTTACCTCTCTTCCCAGGGAGTCAGCTCCAGTGTTACCTAGAAATAAATCAGATATGGTAAGTTGGGTCCTAAATGAAAGAAGTCAGATCTATTCTTCATCAGAATTCTCTGCTTTCATTGCAGACTGTGACTTCTTTACTAGGCTCTTTCATTCCCCACCCTTTCTGATTTCTCTAATCTTCCAAAAGTATCTGACTGATTTTCCTGTACCCCT... |
Task1_train_9609 | Mutation context: Chromosome 5, Gene SPINK1 (serine peptidase inhibitor Kazal type 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hereditary pancreatitis | TCATACTCCTCTTAACTTCAGGCTAAACTGAAAGGTGACAGCAAGGCTGCATTTTTGTTGGATCAAACTGTTCCAGTCTGAGAAATAAGAAATTACAAATATCTCTTTACCTCTCTTCCCAGGGAGTCAGCTCCAGTGTTACCTAGAAATAAATCAGATATGGTAAGTTGGGTCCTAAATGAAAGAAGTCAGATCTATTCTTCATCAGAATTCTCTGCTTTCATTGCAGACTGTGACTTCTTTACTAGGCTCTTTCATTCCCCACCCTTTCTGATTTCTCTAATCTTCCAAAAGTATCTGACTGATTTTCCTGTACCCCT... | TCATACTCCTCTTAACTTCAGGCTAAACTGAAAGGTGACAGCAAGGCTGCATTTTTGTTGGATCAAACTGTTCCAGTCTGAGAAATAAGAAATTACAAATATCTCTTTACCTCTCTTCCCAGGGAGTCAGCTCCAGTGTTACCTAGAAATAAATCAGATATGGTAAGTTGGGTCCTAAATGAAAGAAGTCAGATCTATTCTTCATCAGAATTCTCTGCTTTCATTGCAGACTGTGACTTCTTTACTAGGCTCTTTCATTCCCCACCCTTTCTGATTTCTCTAATCTTCCAAAAGTATCTGACTGATTTTCCTGTACCCCT... |
Task1_train_9610 | This alteration in SPINK1 (serine peptidase inhibitor Kazal type 1) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary pancreatitis | AGCAAGGCTGCATTTTTGTTGGATCAAACTGTTCCAGTCTGAGAAATAAGAAATTACAAATATCTCTTTACCTCTCTTCCCAGGGAGTCAGCTCCAGTGTTACCTAGAAATAAATCAGATATGGTAAGTTGGGTCCTAAATGAAAGAAGTCAGATCTATTCTTCATCAGAATTCTCTGCTTTCATTGCAGACTGTGACTTCTTTACTAGGCTCTTTCATTCCCCACCCTTTCTGATTTCTCTAATCTTCCAAAAGTATCTGACTGATTTTCCTGTACCCCTTCCTTGGCAAAACCTTAAAAAGTTTGAGTAAAACTTTGA... | AGCAAGGCTGCATTTTTGTTGGATCAAACTGTTCCAGTCTGAGAAATAAGAAATTACAAATATCTCTTTACCTCTCTTCCCAGGGAGTCAGCTCCAGTGTTACCTAGAAATAAATCAGATATGGTAAGTTGGGTCCTAAATGAAAGAAGTCAGATCTATTCTTCATCAGAATTCTCTGCTTTCATTGCAGACTGTGACTTCTTTACTAGGCTCTTTCATTCCCCACCCTTTCTGATTTCTCTAATCTTCCAAAAGTATCTGACTGATTTTCCTGTACCCCTTCCTTGGCAAAACCTTAAAAAGTTTGAGTAAAACTTTGA... |
Task1_train_9611 | This sequence variant lies in FBXO38 (F-box protein 38) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Distal hereditary motor neuropathy type 2 | TCCGATTTCCCATTAAAGATCCACTGGTGTGAGGGAAATACTGCTTCACAAGTGTACATTCTCCATCTGAATATTCTTTGAAATTATATACCAGTAACTTCAACTTAAGTAAAAAGTGTAAATATTTTCTCAAATTTGTCACCTTTGGCTTAGGCCACTGAAAGGAATTCGGGGGTCCCTGTTAATATAGCTGGCCTTTAATATTTGTTTACTACTTTATTCTGTATATATACACACACATACACAGAGAGAGAGAGAGTATATGTGTTTTAAGCATTATTCTAGGTATTGGGGATGGTCTAAAGAAGTGGAAATTTCTG... | TCCGATTTCCCATTAAAGATCCACTGGTGTGAGGGAAATACTGCTTCACAAGTGTACATTCTCCATCTGAATATTCTTTGAAATTATATACCAGTAACTTCAACTTAAGTAAAAAGTGTAAATATTTTCTCAAATTTGTCACCTTTGGCTTAGGCCACTGAAAGGAATTCGGGGGTCCCTGTTAATATAGCTGGCCTTTAATATTTGTTTACTACTTTATTCTGTATATATACACACACATACACAGAGAGAGAGAGAGTATATGTGTTTTAAGCATTATTCTAGGTATTGGGGATGGTCTAAAGAAGTGGAAATTTCTG... |
Task1_train_9612 | A sequence alteration has been identified in FBXO38 (F-box protein 38) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Neuronopathy, distal hereditary motor, type 2D | ACTTTGCATTAGATCCTTTCTTGCGCAAAAAGTAACTGTTAGGCCTGTGCTTTTTTTTAAGGACCCAGTGGTCTTCAGCGTGTAGTAAAACCAACCTCAATTACTGTTCATGATTCAGAGAGTGATGATGAAGAAGATAGTCTAGAACTCCAAGAAGTCTGGATTCCTAAGAACGGTACTCGGCGTTACTCTGAACGTGAAGAAAAAACTGGAGAGTCAGTGCAGTCCAGAGAATTGTCAGGTGAGAAATTGTCTTTCTCTGAACTATTAATGAGAGTCACTATCAGAACTGACACACTTGGCCTTAATATGACAACTTG... | ACTTTGCATTAGATCCTTTCTTGCGCAAAAAGTAACTGTTAGGCCTGTGCTTTTTTTTAAGGACCCAGTGGTCTTCAGCGTGTAGTAAAACCAACCTCAATTACTGTTCATGATTCAGAGAGTGATGATGAAGAAGATAGTCTAGAACTCCAAGAAGTCTGGATTCCTAAGAACGGTACTCGGCGTTACTCTGAACGTGAAGAAAAAACTGGAGAGTCAGTGCAGTCCAGAGAATTGTCAGGTGAGAAATTGTCTTTCTCTGAACTATTAATGAGAGTCACTATCAGAACTGACACACTTGGCCTTAATATGACAACTTG... |
Task1_train_9613 | Here is a mutation in SH3TC2 (SH3 domain and tetratricopeptide repeats 2) on Chromosome 5. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth disease type 4C | AACACACTTCATTTCATAATCTACAATTTCATTTTAAAGGTAAGTTCCCGATAAAACTTTTTTTTACCATGACATTTTACACCCCTGCTTTCAGTGGGGGTGACCTTTCTTTAAAACCAGTTGCCCTTGGCAATGAAGACCTCCTGAAGGTTCTTCTGTCCTTGGTATAACTGCCACTTCTCTGAATTATGCAGCCTCAGTCATGATCCTGTGACAGGTGGTTATAGAAACACACAAGTAACAGTGGCATTACTGAGACCTATCTATGTATCAGGCACAGTTATGAGTGTTTTATGAGCATTAACTCATTTATCCTTCAC... | AACACACTTCATTTCATAATCTACAATTTCATTTTAAAGGTAAGTTCCCGATAAAACTTTTTTTTACCATGACATTTTACACCCCTGCTTTCAGTGGGGGTGACCTTTCTTTAAAACCAGTTGCCCTTGGCAATGAAGACCTCCTGAAGGTTCTTCTGTCCTTGGTATAACTGCCACTTCTCTGAATTATGCAGCCTCAGTCATGATCCTGTGACAGGTGGTTATAGAAACACACAAGTAACAGTGGCATTACTGAGACCTATCTATGTATCAGGCACAGTTATGAGTGTTTTATGAGCATTAACTCATTTATCCTTCAC... |
Task1_train_9614 | The variant affects gene SH3TC2 (SH3 domain and tetratricopeptide repeats 2), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Charcot-Marie-Tooth disease type 4 | CTTTCCTCACTTGGCCCTGCTGTACCTCTCTGATGACAGCACAGGTGTCAGCCCCGCCTCCCCCGCAGCTTGTTTCTTCCTCTCTGTGGCTCCTCTGTTTCCTCTCTGCGTTCTCTCTTCCTCTGCTCTGTAAATGGAGGCATCCTCCAGGGTTCTTCCCCCATTCCTATTTTCCATCCTCTTTTTTCTTTCTCCCTTTCACTGGGACTTCTCACCAGAATGTATTGGATTTCATGTCAGGATTTAAAATCACCAGGACATTTAATGAGAGCTCACTGGATTTAATGTCAGGATTCTAAAGTTCCAGAGGGAAGGCCTTG... | CTTTCCTCACTTGGCCCTGCTGTACCTCTCTGATGACAGCACAGGTGTCAGCCCCGCCTCCCCCGCAGCTTGTTTCTTCCTCTCTGTGGCTCCTCTGTTTCCTCTCTGCGTTCTCTCTTCCTCTGCTCTGTAAATGGAGGCATCCTCCAGGGTTCTTCCCCCATTCCTATTTTCCATCCTCTTTTTTCTTTCTCCCTTTCACTGGGACTTCTCACCAGAATGTATTGGATTTCATGTCAGGATTTAAAATCACCAGGACATTTAATGAGAGCTCACTGGATTTAATGTCAGGATTCTAAAGTTCCAGAGGGAAGGCCTTG... |
Task1_train_9615 | This variant affects the gene SH3TC2 (SH3 domain and tetratricopeptide repeats 2) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Susceptibility to mononeuropathy of the median nerve, mild | CTTTCCTCACTTGGCCCTGCTGTACCTCTCTGATGACAGCACAGGTGTCAGCCCCGCCTCCCCCGCAGCTTGTTTCTTCCTCTCTGTGGCTCCTCTGTTTCCTCTCTGCGTTCTCTCTTCCTCTGCTCTGTAAATGGAGGCATCCTCCAGGGTTCTTCCCCCATTCCTATTTTCCATCCTCTTTTTTCTTTCTCCCTTTCACTGGGACTTCTCACCAGAATGTATTGGATTTCATGTCAGGATTTAAAATCACCAGGACATTTAATGAGAGCTCACTGGATTTAATGTCAGGATTCTAAAGTTCCAGAGGGAAGGCCTTG... | CTTTCCTCACTTGGCCCTGCTGTACCTCTCTGATGACAGCACAGGTGTCAGCCCCGCCTCCCCCGCAGCTTGTTTCTTCCTCTCTGTGGCTCCTCTGTTTCCTCTCTGCGTTCTCTCTTCCTCTGCTCTGTAAATGGAGGCATCCTCCAGGGTTCTTCCCCCATTCCTATTTTCCATCCTCTTTTTTCTTTCTCCCTTTCACTGGGACTTCTCACCAGAATGTATTGGATTTCATGTCAGGATTTAAAATCACCAGGACATTTAATGAGAGCTCACTGGATTTAATGTCAGGATTCTAAAGTTCCAGAGGGAAGGCCTTG... |
Task1_train_9616 | A change on Chromosome 5 affects gene SH3TC2 (SH3 domain and tetratricopeptide repeats 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease type 4C | CTTTCCTCACTTGGCCCTGCTGTACCTCTCTGATGACAGCACAGGTGTCAGCCCCGCCTCCCCCGCAGCTTGTTTCTTCCTCTCTGTGGCTCCTCTGTTTCCTCTCTGCGTTCTCTCTTCCTCTGCTCTGTAAATGGAGGCATCCTCCAGGGTTCTTCCCCCATTCCTATTTTCCATCCTCTTTTTTCTTTCTCCCTTTCACTGGGACTTCTCACCAGAATGTATTGGATTTCATGTCAGGATTTAAAATCACCAGGACATTTAATGAGAGCTCACTGGATTTAATGTCAGGATTCTAAAGTTCCAGAGGGAAGGCCTTG... | CTTTCCTCACTTGGCCCTGCTGTACCTCTCTGATGACAGCACAGGTGTCAGCCCCGCCTCCCCCGCAGCTTGTTTCTTCCTCTCTGTGGCTCCTCTGTTTCCTCTCTGCGTTCTCTCTTCCTCTGCTCTGTAAATGGAGGCATCCTCCAGGGTTCTTCCCCCATTCCTATTTTCCATCCTCTTTTTTCTTTCTCCCTTTCACTGGGACTTCTCACCAGAATGTATTGGATTTCATGTCAGGATTTAAAATCACCAGGACATTTAATGAGAGCTCACTGGATTTAATGTCAGGATTCTAAAGTTCCAGAGGGAAGGCCTTG... |
Task1_train_9617 | Gene SH3TC2 (SH3 domain and tetratricopeptide repeats 2) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not specified | AATATTCCATGTTTGAATGATTTTTCCCTCCCTTTGCATCCTGCTTATTTCATGGCCTCTGGTAGCAAATATCTGAATAAGATCCCATCTCTACCCCTATGCCACACTCACCTTCCTGTATCAGGAGTCCCAGGTATATTGTTTCCAGGTGTTTATCATCTACAGACACTTGGATCTCTGTATCCTCCACCAATATGCAGTTGAGCCAGTACTTGTGGTCAAAGAGGAGATGTTCTAGACACATGGATACGTAGCCTAAGAAGTCAAGCCAACAAGATTTCTGAACAAAATGATTTCTGACATAGCTGAGCACAGAAGAG... | AATATTCCATGTTTGAATGATTTTTCCCTCCCTTTGCATCCTGCTTATTTCATGGCCTCTGGTAGCAAATATCTGAATAAGATCCCATCTCTACCCCTATGCCACACTCACCTTCCTGTATCAGGAGTCCCAGGTATATTGTTTCCAGGTGTTTATCATCTACAGACACTTGGATCTCTGTATCCTCCACCAATATGCAGTTGAGCCAGTACTTGTGGTCAAAGAGGAGATGTTCTAGACACATGGATACGTAGCCTAAGAAGTCAAGCCAACAAGATTTCTGAACAAAATGATTTCTGACATAGCTGAGCACAGAAGAG... |
Task1_train_9618 | Given this context: Chromosome 5, gene PDE6A (phosphodiesterase 6A) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Retinitis pigmentosa 43 | GAGGCCATTATCTTAAGCAAATTAACACAAGAATGGAAAACCAAATACTGCATATTCTCACTTACAGGTGTGAGATAAACATTACATATACATGGACACAAAGATGTCAACAATAGATACTGGGGACTACACAAGGGGAGACGGAGGAGAGTGTGGGCCAGAAAACCACATACTGAGTGCTATGCTCACTACCTGCGTGAGGATCGTTTGTACCCCAAACCTCAGTGTCACACAATATACCCATGTAACAAACCTGCCCATGCATTCTTTAATGTATAATAAAAGTTGAAATTATAAATAAATAAATGTGGCTGGACGTG... | GAGGCCATTATCTTAAGCAAATTAACACAAGAATGGAAAACCAAATACTGCATATTCTCACTTACAGGTGTGAGATAAACATTACATATACATGGACACAAAGATGTCAACAATAGATACTGGGGACTACACAAGGGGAGACGGAGGAGAGTGTGGGCCAGAAAACCACATACTGAGTGCTATGCTCACTACCTGCGTGAGGATCGTTTGTACCCCAAACCTCAGTGTCACACAATATACCCATGTAACAAACCTGCCCATGCATTCTTTAATGTATAATAAAAGTTGAAATTATAAATAAATAAATGTGGCTGGACGTG... |
Task1_train_9619 | The gene PDE6A (phosphodiesterase 6A) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Retinal dystrophy | GAGGCCATTATCTTAAGCAAATTAACACAAGAATGGAAAACCAAATACTGCATATTCTCACTTACAGGTGTGAGATAAACATTACATATACATGGACACAAAGATGTCAACAATAGATACTGGGGACTACACAAGGGGAGACGGAGGAGAGTGTGGGCCAGAAAACCACATACTGAGTGCTATGCTCACTACCTGCGTGAGGATCGTTTGTACCCCAAACCTCAGTGTCACACAATATACCCATGTAACAAACCTGCCCATGCATTCTTTAATGTATAATAAAAGTTGAAATTATAAATAAATAAATGTGGCTGGACGTG... | GAGGCCATTATCTTAAGCAAATTAACACAAGAATGGAAAACCAAATACTGCATATTCTCACTTACAGGTGTGAGATAAACATTACATATACATGGACACAAAGATGTCAACAATAGATACTGGGGACTACACAAGGGGAGACGGAGGAGAGTGTGGGCCAGAAAACCACATACTGAGTGCTATGCTCACTACCTGCGTGAGGATCGTTTGTACCCCAAACCTCAGTGTCACACAATATACCCATGTAACAAACCTGCCCATGCATTCTTTAATGTATAATAAAAGTTGAAATTATAAATAAATAAATGTGGCTGGACGTG... |
Task1_train_9620 | Gene PDE6A (phosphodiesterase 6A), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Retinitis pigmentosa 43 | CAGATCTTTCATGATCTAGAACCCAAAGATTAGGTCTTTTGGAAATTACACCAAAGGAAGACTGCTCTTGAACTCCATTGGACGCGACCATACCAAGTTCTTCTCTACCGCAAAACTTTAGGGCCTTGAGTCTTGGATCTACATCTCTCAATTCAAAAGGTCCCTCCAGATTCCTGGAAGTATACACCTGTTGGACTCCTTCGGGTAAAGCTAACCAGGGAAGGTTTTCCACAGAAACAGATGGCATTCTAGACAGGGATCATAGATCAAGACTTCTCTGCCATCATGAAGGAAACCGTACTCTGACCTTTCTAATTAAT... | CAGATCTTTCATGATCTAGAACCCAAAGATTAGGTCTTTTGGAAATTACACCAAAGGAAGACTGCTCTTGAACTCCATTGGACGCGACCATACCAAGTTCTTCTCTACCGCAAAACTTTAGGGCCTTGAGTCTTGGATCTACATCTCTCAATTCAAAAGGTCCCTCCAGATTCCTGGAAGTATACACCTGTTGGACTCCTTCGGGTAAAGCTAACCAGGGAAGGTTTTCCACAGAAACAGATGGCATTCTAGACAGGGATCATAGATCAAGACTTCTCTGCCATCATGAAGGAAACCGTACTCTGACCTTTCTAATTAAT... |
Task1_train_9621 | Given this context: Chromosome 5, gene PDE6A (phosphodiesterase 6A) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Retinitis pigmentosa 43 | CTAAGTGGCTTCCTCCACACTCATAATTTCAAACACCATCTGGTCCTGATATCTTCCAAATCTCTGCTTCCAACACTCCTCTCTCTCCATGGCATCAGAATTGTCTCTTCATCTACCTGCTGGACAGCTGCTCCTAAAAAATGTCATAGTTTTACCTTGTCTGAAACTGACCTTGTCATCTTACATCCAAGCATGATGACAGCACTATCTATTCAGTCTAGAAGCCTGAAATTAGCTTTGACTCCTCTCTTCCCCATTCTCTGCCTACAACCAATCACAAAGCCCTGCCAGCTTCACCCTCTCAATATTGGACCTGACCC... | CTAAGTGGCTTCCTCCACACTCATAATTTCAAACACCATCTGGTCCTGATATCTTCCAAATCTCTGCTTCCAACACTCCTCTCTCTCCATGGCATCAGAATTGTCTCTTCATCTACCTGCTGGACAGCTGCTCCTAAAAAATGTCATAGTTTTACCTTGTCTGAAACTGACCTTGTCATCTTACATCCAAGCATGATGACAGCACTATCTATTCAGTCTAGAAGCCTGAAATTAGCTTTGACTCCTCTCTTCCCCATTCTCTGCCTACAACCAATCACAAAGCCCTGCCAGCTTCACCCTCTCAATATTGGACCTGACCC... |
Task1_train_9622 | A variant was discovered on Chromosome 5, affecting PDE6A (phosphodiesterase 6A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Retinal dystrophy | GTGTCTATTCACAGGTGCAATCCCACTACTAACCAGCATGAGAGTTTGACCTGTTCCCTTTCTGACCTGGGCTGGTTCACCCCACCTTAGGCAGCCTGGTGGTCCCTTACTCCTGGGAAGTCACCATATTGATGCTGACCACAGGTGTGAACTGAAGGGGGCCAGCCCCTCCATGAGAAATACCTGGGTATTTCTCGTCAGGTGGGATGAGAGACTGAGGAAAGAAATAAGACACAGAGACAAAGTCTAGAGAAAGAGCAGTGGGCCCAGGGGACTGGCACTCAGCATATGGAGGACCCGTGCCAGCACTGGTCTCTGAG... | GTGTCTATTCACAGGTGCAATCCCACTACTAACCAGCATGAGAGTTTGACCTGTTCCCTTTCTGACCTGGGCTGGTTCACCCCACCTTAGGCAGCCTGGTGGTCCCTTACTCCTGGGAAGTCACCATATTGATGCTGACCACAGGTGTGAACTGAAGGGGGCCAGCCCCTCCATGAGAAATACCTGGGTATTTCTCGTCAGGTGGGATGAGAGACTGAGGAAAGAAATAAGACACAGAGACAAAGTCTAGAGAAAGAGCAGTGGGCCCAGGGGACTGGCACTCAGCATATGGAGGACCCGTGCCAGCACTGGTCTCTGAG... |
Task1_train_9623 | This is a variant in PDE6A (phosphodiesterase 6A), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; Retinitis pigmentosa 43 | GTGTCTATTCACAGGTGCAATCCCACTACTAACCAGCATGAGAGTTTGACCTGTTCCCTTTCTGACCTGGGCTGGTTCACCCCACCTTAGGCAGCCTGGTGGTCCCTTACTCCTGGGAAGTCACCATATTGATGCTGACCACAGGTGTGAACTGAAGGGGGCCAGCCCCTCCATGAGAAATACCTGGGTATTTCTCGTCAGGTGGGATGAGAGACTGAGGAAAGAAATAAGACACAGAGACAAAGTCTAGAGAAAGAGCAGTGGGCCCAGGGGACTGGCACTCAGCATATGGAGGACCCGTGCCAGCACTGGTCTCTGAG... | GTGTCTATTCACAGGTGCAATCCCACTACTAACCAGCATGAGAGTTTGACCTGTTCCCTTTCTGACCTGGGCTGGTTCACCCCACCTTAGGCAGCCTGGTGGTCCCTTACTCCTGGGAAGTCACCATATTGATGCTGACCACAGGTGTGAACTGAAGGGGGCCAGCCCCTCCATGAGAAATACCTGGGTATTTCTCGTCAGGTGGGATGAGAGACTGAGGAAAGAAATAAGACACAGAGACAAAGTCTAGAGAAAGAGCAGTGGGCCCAGGGGACTGGCACTCAGCATATGGAGGACCCGTGCCAGCACTGGTCTCTGAG... |
Task1_train_9624 | This genomic variant is located on Chromosome 5, within the PDE6A (phosphodiesterase 6A) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Retinitis pigmentosa | CAGGGGACTGGCACTCAGCATATGGAGGACCCGTGCCAGCACTGGTCTCTGAGTTCCCTCAGTATTTATTGATCACTATCTCTACTATCTAGGTGAGGGGGATGTGGCAGGACTATAGGGTAATGGTGGGGAGAGGTTCAGCGGGAAAACATGTGAGCAAAGGTCTCTGTGTCATAAGTTTAAGAAAAGGTGCTGTGCCTTGATGTGCACGGAGGCCAGGTTTATGTTTGACTTTACACAAGCATCTCAGTGCAGTAAAGAGCAGTATTGCCACCAGCATGTCCCACCTCCAGCCATAAGGCAGTTTTCTCCTATCTCAG... | CAGGGGACTGGCACTCAGCATATGGAGGACCCGTGCCAGCACTGGTCTCTGAGTTCCCTCAGTATTTATTGATCACTATCTCTACTATCTAGGTGAGGGGGATGTGGCAGGACTATAGGGTAATGGTGGGGAGAGGTTCAGCGGGAAAACATGTGAGCAAAGGTCTCTGTGTCATAAGTTTAAGAAAAGGTGCTGTGCCTTGATGTGCACGGAGGCCAGGTTTATGTTTGACTTTACACAAGCATCTCAGTGCAGTAAAGAGCAGTATTGCCACCAGCATGTCCCACCTCCAGCCATAAGGCAGTTTTCTCCTATCTCAG... |
Task1_train_9625 | Here is a mutation in SLC26A2 (solute carrier family 26 member 2) on Chromosome 5. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Atelosteogenesis type II | TGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGATAAGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAATGTCTCTATCTGGCCACAGTCACAAATGTTTGTTCATTTGTTCATTCATTCATTCAAATGTTTTGTAAGCCTGCTATCTCAGCGTTACTACATTCCATTCAGATTACACTGATGAACAAGATG... | TGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGATAAGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAATGTCTCTATCTGGCCACAGTCACAAATGTTTGTTCATTTGTTCATTCATTCATTCAAATGTTTTGTAAGCCTGCTATCTCAGCGTTACTACATTCCATTCAGATTACACTGATGAACAAGATG... |
Task1_train_9626 | Gene SLC26A2 (solute carrier family 26 member 2) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not specified | GCAAAAATTAGCCAGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGATAAGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAATGTCTCTATCTGGCCACAGTCACAAATGTTTGTTCATTTGTTCATTCATTCATTCAAATGTTTTGTAAGCCTGCTATCTCAGCGTTACTACATTCCATTCAGATTACACTGATGAACAAGATGTCTTTCCTCCAGGAGCTAGAGAGA... | GCAAAAATTAGCCAGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGATAAGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAATGTCTCTATCTGGCCACAGTCACAAATGTTTGTTCATTTGTTCATTCATTCATTCAAATGTTTTGTAAGCCTGCTATCTCAGCGTTACTACATTCCATTCAGATTACACTGATGAACAAGATGTCTTTCCTCCAGGAGCTAGAGAGA... |
Task1_train_9627 | This variant affects gene SLC26A2 (solute carrier family 26 member 2) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; Achondrogenesis, type IB | TTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGCAACGTCCGCCTCCCTGGCTCAAGCAGTCCTCCTACCTCAACCTCCTGAGTAGCTAGGACTACAGGCACATGCTACCACACCTGGCTAATTTTATTTTATTTTATTTTATTTTATTTTTTATTTTTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAA... | TTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGCAACGTCCGCCTCCCTGGCTCAAGCAGTCCTCCTACCTCAACCTCCTGAGTAGCTAGGACTACAGGCACATGCTACCACACCTGGCTAATTTTATTTTATTTTATTTTATTTTATTTTTTATTTTTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAA... |
Task1_train_9628 | Here is a genetic alteration in SLC26A2 (solute carrier family 26 member 2) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Achondrogenesis, type IB | TTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGCAACGTCCGCCTCCCTGGCTCAAGCAGTCCTCCTACCTCAACCTCCTGAGTAGCTAGGACTACAGGCACATGCTACCACACCTGGCTAATTTTATTTTATTTTATTTTATTTTATTTTTTATTTTTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAA... | TTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGCAACGTCCGCCTCCCTGGCTCAAGCAGTCCTCCTACCTCAACCTCCTGAGTAGCTAGGACTACAGGCACATGCTACCACACCTGGCTAATTTTATTTTATTTTATTTTATTTTATTTTTTATTTTTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAA... |
Task1_train_9629 | This genomic variant is located on Chromosome 5, within the SLC26A2 (solute carrier family 26 member 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Multiple epiphyseal dysplasia type 4 | TTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGCAACGTCCGCCTCCCTGGCTCAAGCAGTCCTCCTACCTCAACCTCCTGAGTAGCTAGGACTACAGGCACATGCTACCACACCTGGCTAATTTTATTTTATTTTATTTTATTTTATTTTTTATTTTTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAA... | TTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGCAACGTCCGCCTCCCTGGCTCAAGCAGTCCTCCTACCTCAACCTCCTGAGTAGCTAGGACTACAGGCACATGCTACCACACCTGGCTAATTTTATTTTATTTTATTTTATTTTATTTTTTATTTTTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAA... |
Task1_train_9630 | A mutation found in SLC26A2 (solute carrier family 26 member 2) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Diastrophic dysplasia | TTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGCAACGTCCGCCTCCCTGGCTCAAGCAGTCCTCCTACCTCAACCTCCTGAGTAGCTAGGACTACAGGCACATGCTACCACACCTGGCTAATTTTATTTTATTTTATTTTATTTTATTTTTTATTTTTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAA... | TTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGCAACGTCCGCCTCCCTGGCTCAAGCAGTCCTCCTACCTCAACCTCCTGAGTAGCTAGGACTACAGGCACATGCTACCACACCTGGCTAATTTTATTTTATTTTATTTTATTTTATTTTTTATTTTTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAA... |
Task1_train_9631 | Gene SLC26A2 (solute carrier family 26 member 2) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Atelosteogenesis type II | TTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGCAACGTCCGCCTCCCTGGCTCAAGCAGTCCTCCTACCTCAACCTCCTGAGTAGCTAGGACTACAGGCACATGCTACCACACCTGGCTAATTTTATTTTATTTTATTTTATTTTATTTTTTATTTTTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAA... | TTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGCAACGTCCGCCTCCCTGGCTCAAGCAGTCCTCCTACCTCAACCTCCTGAGTAGCTAGGACTACAGGCACATGCTACCACACCTGGCTAATTTTATTTTATTTTATTTTATTTTATTTTTTATTTTTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAA... |
Task1_train_9632 | This variant impacts the gene SLC26A2 (solute carrier family 26 member 2) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; Diastrophic dysplasia | TTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGCAACGTCCGCCTCCCTGGCTCAAGCAGTCCTCCTACCTCAACCTCCTGAGTAGCTAGGACTACAGGCACATGCTACCACACCTGGCTAATTTTATTTTATTTTATTTTATTTTATTTTTTATTTTTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAA... | TTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGCAACGTCCGCCTCCCTGGCTCAAGCAGTCCTCCTACCTCAACCTCCTGAGTAGCTAGGACTACAGGCACATGCTACCACACCTGGCTAATTTTATTTTATTTTATTTTATTTTATTTTTTATTTTTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAA... |
Task1_train_9633 | A variant found in Chromosome 5 affects SLC26A2 (solute carrier family 26 member 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Diastrophic dysplasia, broad bone-platyspondylic variant | CAGGGTTTTGCCACGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAAATTCTAAATGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCT... | CAGGGTTTTGCCACGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAAATTCTAAATGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCT... |
Task1_train_9634 | A mutation in SLC26A2 (solute carrier family 26 member 2), located on Chromosome 5, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Sulfate transporter-related osteochondrodysplasia | TAGCCATGAGCCACCACACCCAGCCTCAAATTCTAAATGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCT... | TAGCCATGAGCCACCACACCCAGCCTCAAATTCTAAATGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCT... |
Task1_train_9635 | This variant affects gene SLC26A2 (solute carrier family 26 member 2) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; Diastrophic dysplasia | TAGCCATGAGCCACCACACCCAGCCTCAAATTCTAAATGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCT... | TAGCCATGAGCCACCACACCCAGCCTCAAATTCTAAATGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCT... |
Task1_train_9636 | A variant has been detected on Chromosome 5 in SLC26A2 (solute carrier family 26 member 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Osteochondrodysplasia | AAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAAT... | AAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAAT... |
Task1_train_9637 | Gene SLC26A2 (solute carrier family 26 member 2) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Multiple epiphyseal dysplasia type 4 | AAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAAT... | AAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAAT... |
Task1_train_9638 | Given this context: Chromosome 5, gene SLC26A2 (solute carrier family 26 member 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Atelosteogenesis type II | AAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAAT... | AAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAAT... |
Task1_train_9639 | A sequence alteration has been identified in SLC26A2 (solute carrier family 26 member 2) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Achondrogenesis, type IB | AAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAAT... | AAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAAT... |
Task1_train_9640 | Here’s a variant in SLC26A2 (solute carrier family 26 member 2) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Diastrophic dysplasia | AAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAAT... | AAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAAT... |
Task1_train_9641 | Gene SLC26A2 (solute carrier family 26 member 2), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Multiple epiphyseal dysplasia type 4 | GGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATAAGTCTACTTACTTATTTATTATTTATTCA... | GGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATAAGTCTACTTACTTATTTATTATTTATTCA... |
Task1_train_9642 | This alteration occurs within gene CSF1R (colony stimulating factor 1 receptor) located on Chromosome 5. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | GTGAAGGAGGGAAGGAAAGAAAGACGTTCCAGGGAATTTGCAGGTACTCATGTGGCACAAAGAACCAGAGGCTGACTGCATTAATGCTGTTAGTTTAATGTGGACAGAGACATCCCACGGCGTGACTGTTAGTTAGGATGAGTCAGCTTGGGGGAGTTTGTGCTTCCTGCTTGGTGTGGCCAGCCACATGCCAAGGTCCCCTGCCTTCTAGCCCAGAATGACGGGACTGGGCAGAACACCCCCAACTTTTAGCTGCCACTTGGCTCATTACAGCAGTACCAGTATGGGGGTGGGAGGGGTGAGGCTGTGGAGTGAAGGCG... | GTGAAGGAGGGAAGGAAAGAAAGACGTTCCAGGGAATTTGCAGGTACTCATGTGGCACAAAGAACCAGAGGCTGACTGCATTAATGCTGTTAGTTTAATGTGGACAGAGACATCCCACGGCGTGACTGTTAGTTAGGATGAGTCAGCTTGGGGGAGTTTGTGCTTCCTGCTTGGTGTGGCCAGCCACATGCCAAGGTCCCCTGCCTTCTAGCCCAGAATGACGGGACTGGGCAGAACACCCCCAACTTTTAGCTGCCACTTGGCTCATTACAGCAGTACCAGTATGGGGGTGGGAGGGGTGAGGCTGTGGAGTGAAGGCG... |
Task1_train_9643 | Gene CSF1R (colony stimulating factor 1 receptor) on Chromosome 5 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | TCTCCCCGTGTCGCCCCATCCATGGAGGAGTTGAAGTTTGTGGGAGGGGAGAGTGGTACTCCCTGTCGTCAACTCCTCAGCAGAACTGATAGTTGTTGGGCTGCAGCAAGGGCTGGGCGATATCCCCTTGCTCGCAGCAGGTCAGGTGCTCACTAGAGCTCTCCTCCTCCAGCTCACTGCTGCTGCTGCCGCTGCCACCGCTTCTGCTGCTGCTCGGCAGATTGGTATAGTCCTGAGGGTGGGAGGGACCAGAAACTGTCAGTCCAGATCCATCAGGCCCAGCCCAACGTGCTTTACCGGCCACCCACCCCAAGCCTCAC... | TCTCCCCGTGTCGCCCCATCCATGGAGGAGTTGAAGTTTGTGGGAGGGGAGAGTGGTACTCCCTGTCGTCAACTCCTCAGCAGAACTGATAGTTGTTGGGCTGCAGCAAGGGCTGGGCGATATCCCCTTGCTCGCAGCAGGTCAGGTGCTCACTAGAGCTCTCCTCCTCCAGCTCACTGCTGCTGCTGCCGCTGCCACCGCTTCTGCTGCTGCTCGGCAGATTGGTATAGTCCTGAGGGTGGGAGGGACCAGAAACTGTCAGTCCAGATCCATCAGGCCCAGCCCAACGTGCTTTACCGGCCACCCACCCCAAGCCTCAC... |
Task1_train_9644 | A mutation found in CSF1R (colony stimulating factor 1 receptor) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hereditary diffuse leukoencephalopathy with spheroids | TTGAAGTTTGTGGGAGGGGAGAGTGGTACTCCCTGTCGTCAACTCCTCAGCAGAACTGATAGTTGTTGGGCTGCAGCAAGGGCTGGGCGATATCCCCTTGCTCGCAGCAGGTCAGGTGCTCACTAGAGCTCTCCTCCTCCAGCTCACTGCTGCTGCTGCCGCTGCCACCGCTTCTGCTGCTGCTCGGCAGATTGGTATAGTCCTGAGGGTGGGAGGGACCAGAAACTGTCAGTCCAGATCCATCAGGCCCAGCCCAACGTGCTTTACCGGCCACCCACCCCAAGCCTCACCCCACTCACCCGCTCTCTCCTGTCCTCTTG... | TTGAAGTTTGTGGGAGGGGAGAGTGGTACTCCCTGTCGTCAACTCCTCAGCAGAACTGATAGTTGTTGGGCTGCAGCAAGGGCTGGGCGATATCCCCTTGCTCGCAGCAGGTCAGGTGCTCACTAGAGCTCTCCTCCTCCAGCTCACTGCTGCTGCTGCCGCTGCCACCGCTTCTGCTGCTGCTCGGCAGATTGGTATAGTCCTGAGGGTGGGAGGGACCAGAAACTGTCAGTCCAGATCCATCAGGCCCAGCCCAACGTGCTTTACCGGCCACCCACCCCAAGCCTCACCCCACTCACCCGCTCTCTCCTGTCCTCTTG... |
Task1_train_9645 | Consider this mutation in CSF1R (colony stimulating factor 1 receptor) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Hereditary diffuse leukoencephalopathy with spheroids | GGGAGGGGAGAGTGGTACTCCCTGTCGTCAACTCCTCAGCAGAACTGATAGTTGTTGGGCTGCAGCAAGGGCTGGGCGATATCCCCTTGCTCGCAGCAGGTCAGGTGCTCACTAGAGCTCTCCTCCTCCAGCTCACTGCTGCTGCTGCCGCTGCCACCGCTTCTGCTGCTGCTCGGCAGATTGGTATAGTCCTGAGGGTGGGAGGGACCAGAAACTGTCAGTCCAGATCCATCAGGCCCAGCCCAACGTGCTTTACCGGCCACCCACCCCAAGCCTCACCCCACTCACCCGCTCTCTCCTGTCCTCTTGGGCCTGCTCCT... | GGGAGGGGAGAGTGGTACTCCCTGTCGTCAACTCCTCAGCAGAACTGATAGTTGTTGGGCTGCAGCAAGGGCTGGGCGATATCCCCTTGCTCGCAGCAGGTCAGGTGCTCACTAGAGCTCTCCTCCTCCAGCTCACTGCTGCTGCTGCCGCTGCCACCGCTTCTGCTGCTGCTCGGCAGATTGGTATAGTCCTGAGGGTGGGAGGGACCAGAAACTGTCAGTCCAGATCCATCAGGCCCAGCCCAACGTGCTTTACCGGCCACCCACCCCAAGCCTCACCCCACTCACCCGCTCTCTCCTGTCCTCTTGGGCCTGCTCCT... |
Task1_train_9646 | A variant has been detected on Chromosome 5 in CSF1R (colony stimulating factor 1 receptor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary diffuse leukoencephalopathy with spheroids | TACTCCCTGTCGTCAACTCCTCAGCAGAACTGATAGTTGTTGGGCTGCAGCAAGGGCTGGGCGATATCCCCTTGCTCGCAGCAGGTCAGGTGCTCACTAGAGCTCTCCTCCTCCAGCTCACTGCTGCTGCTGCCGCTGCCACCGCTTCTGCTGCTGCTCGGCAGATTGGTATAGTCCTGAGGGTGGGAGGGACCAGAAACTGTCAGTCCAGATCCATCAGGCCCAGCCCAACGTGCTTTACCGGCCACCCACCCCAAGCCTCACCCCACTCACCCGCTCTCTCCTGTCCTCTTGGGCCTGCTCCTGAAGGAAGGAGCAGA... | TACTCCCTGTCGTCAACTCCTCAGCAGAACTGATAGTTGTTGGGCTGCAGCAAGGGCTGGGCGATATCCCCTTGCTCGCAGCAGGTCAGGTGCTCACTAGAGCTCTCCTCCTCCAGCTCACTGCTGCTGCTGCCGCTGCCACCGCTTCTGCTGCTGCTCGGCAGATTGGTATAGTCCTGAGGGTGGGAGGGACCAGAAACTGTCAGTCCAGATCCATCAGGCCCAGCCCAACGTGCTTTACCGGCCACCCACCCCAAGCCTCACCCCACTCACCCGCTCTCTCCTGTCCTCTTGGGCCTGCTCCTGAAGGAAGGAGCAGA... |
Task1_train_9647 | A genetic alteration is present in CSF1R (colony stimulating factor 1 receptor) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary diffuse leukoencephalopathy with spheroids | ACTCCTCAGCAGAACTGATAGTTGTTGGGCTGCAGCAAGGGCTGGGCGATATCCCCTTGCTCGCAGCAGGTCAGGTGCTCACTAGAGCTCTCCTCCTCCAGCTCACTGCTGCTGCTGCCGCTGCCACCGCTTCTGCTGCTGCTCGGCAGATTGGTATAGTCCTGAGGGTGGGAGGGACCAGAAACTGTCAGTCCAGATCCATCAGGCCCAGCCCAACGTGCTTTACCGGCCACCCACCCCAAGCCTCACCCCACTCACCCGCTCTCTCCTGTCCTCTTGGGCCTGCTCCTGAAGGAAGGAGCAGATCTGCTGGAAGGTGG... | ACTCCTCAGCAGAACTGATAGTTGTTGGGCTGCAGCAAGGGCTGGGCGATATCCCCTTGCTCGCAGCAGGTCAGGTGCTCACTAGAGCTCTCCTCCTCCAGCTCACTGCTGCTGCTGCCGCTGCCACCGCTTCTGCTGCTGCTCGGCAGATTGGTATAGTCCTGAGGGTGGGAGGGACCAGAAACTGTCAGTCCAGATCCATCAGGCCCAGCCCAACGTGCTTTACCGGCCACCCACCCCAAGCCTCACCCCACTCACCCGCTCTCTCCTGTCCTCTTGGGCCTGCTCCTGAAGGAAGGAGCAGATCTGCTGGAAGGTGG... |
Task1_train_9648 | The gene CSF1R (colony stimulating factor 1 receptor) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hereditary diffuse leukoencephalopathy with spheroids | CCAGCCCAACGTGCTTTACCGGCCACCCACCCCAAGCCTCACCCCACTCACCCGCTCTCTCCTGTCCTCTTGGGCCTGCTCCTGAAGGAAGGAGCAGATCTGCTGGAAGGTGGGTCTGTGGGTGGGCTCCAAGGCCCAGCAGGCCTGCATGATGCTGTATCTGGGAGATAGGACAGAGGATGCCCATGGGCAGCTCCCTAGGGTCCAGGGGCCATTAACACACACCCCTAGAGAGACCTACCCAGCAGAGGTCCCCAAACCCAGTCAAAGTAAGTTTAGTATAAAACCTATGCCAAGTCCTTGGCATGCTTTACCATTTA... | CCAGCCCAACGTGCTTTACCGGCCACCCACCCCAAGCCTCACCCCACTCACCCGCTCTCTCCTGTCCTCTTGGGCCTGCTCCTGAAGGAAGGAGCAGATCTGCTGGAAGGTGGGTCTGTGGGTGGGCTCCAAGGCCCAGCAGGCCTGCATGATGCTGTATCTGGGAGATAGGACAGAGGATGCCCATGGGCAGCTCCCTAGGGTCCAGGGGCCATTAACACACACCCCTAGAGAGACCTACCCAGCAGAGGTCCCCAAACCCAGTCAAAGTAAGTTTAGTATAAAACCTATGCCAAGTCCTTGGCATGCTTTACCATTTA... |
Task1_train_9649 | A mutation in CSF1R (colony stimulating factor 1 receptor), located on Chromosome 5, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hereditary diffuse leukoencephalopathy with spheroids | CCAGCCCAACGTGCTTTACCGGCCACCCACCCCAAGCCTCACCCCACTCACCCGCTCTCTCCTGTCCTCTTGGGCCTGCTCCTGAAGGAAGGAGCAGATCTGCTGGAAGGTGGGTCTGTGGGTGGGCTCCAAGGCCCAGCAGGCCTGCATGATGCTGTATCTGGGAGATAGGACAGAGGATGCCCATGGGCAGCTCCCTAGGGTCCAGGGGCCATTAACACACACCCCTAGAGAGACCTACCCAGCAGAGGTCCCCAAACCCAGTCAAAGTAAGTTTAGTATAAAACCTATGCCAAGTCCTTGGCATGCTTTACCATTTA... | CCAGCCCAACGTGCTTTACCGGCCACCCACCCCAAGCCTCACCCCACTCACCCGCTCTCTCCTGTCCTCTTGGGCCTGCTCCTGAAGGAAGGAGCAGATCTGCTGGAAGGTGGGTCTGTGGGTGGGCTCCAAGGCCCAGCAGGCCTGCATGATGCTGTATCTGGGAGATAGGACAGAGGATGCCCATGGGCAGCTCCCTAGGGTCCAGGGGCCATTAACACACACCCCTAGAGAGACCTACCCAGCAGAGGTCCCCAAACCCAGTCAAAGTAAGTTTAGTATAAAACCTATGCCAAGTCCTTGGCATGCTTTACCATTTA... |
Task1_train_9650 | Here’s a variant in CSF1R (colony stimulating factor 1 receptor) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; CSF1R-related disorder | GCTTTACCGGCCACCCACCCCAAGCCTCACCCCACTCACCCGCTCTCTCCTGTCCTCTTGGGCCTGCTCCTGAAGGAAGGAGCAGATCTGCTGGAAGGTGGGTCTGTGGGTGGGCTCCAAGGCCCAGCAGGCCTGCATGATGCTGTATCTGGGAGATAGGACAGAGGATGCCCATGGGCAGCTCCCTAGGGTCCAGGGGCCATTAACACACACCCCTAGAGAGACCTACCCAGCAGAGGTCCCCAAACCCAGTCAAAGTAAGTTTAGTATAAAACCTATGCCAAGTCCTTGGCATGCTTTACCATTTAATCCTCACAGTA... | GCTTTACCGGCCACCCACCCCAAGCCTCACCCCACTCACCCGCTCTCTCCTGTCCTCTTGGGCCTGCTCCTGAAGGAAGGAGCAGATCTGCTGGAAGGTGGGTCTGTGGGTGGGCTCCAAGGCCCAGCAGGCCTGCATGATGCTGTATCTGGGAGATAGGACAGAGGATGCCCATGGGCAGCTCCCTAGGGTCCAGGGGCCATTAACACACACCCCTAGAGAGACCTACCCAGCAGAGGTCCCCAAACCCAGTCAAAGTAAGTTTAGTATAAAACCTATGCCAAGTCCTTGGCATGCTTTACCATTTAATCCTCACAGTA... |
Task1_train_9651 | Chromosome 5 houses a mutation in gene CSF1R (colony stimulating factor 1 receptor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Leukoencephalopathy, diffuse hereditary, with spheroids 1 | GCTTTACCGGCCACCCACCCCAAGCCTCACCCCACTCACCCGCTCTCTCCTGTCCTCTTGGGCCTGCTCCTGAAGGAAGGAGCAGATCTGCTGGAAGGTGGGTCTGTGGGTGGGCTCCAAGGCCCAGCAGGCCTGCATGATGCTGTATCTGGGAGATAGGACAGAGGATGCCCATGGGCAGCTCCCTAGGGTCCAGGGGCCATTAACACACACCCCTAGAGAGACCTACCCAGCAGAGGTCCCCAAACCCAGTCAAAGTAAGTTTAGTATAAAACCTATGCCAAGTCCTTGGCATGCTTTACCATTTAATCCTCACAGTA... | GCTTTACCGGCCACCCACCCCAAGCCTCACCCCACTCACCCGCTCTCTCCTGTCCTCTTGGGCCTGCTCCTGAAGGAAGGAGCAGATCTGCTGGAAGGTGGGTCTGTGGGTGGGCTCCAAGGCCCAGCAGGCCTGCATGATGCTGTATCTGGGAGATAGGACAGAGGATGCCCATGGGCAGCTCCCTAGGGTCCAGGGGCCATTAACACACACCCCTAGAGAGACCTACCCAGCAGAGGTCCCCAAACCCAGTCAAAGTAAGTTTAGTATAAAACCTATGCCAAGTCCTTGGCATGCTTTACCATTTAATCCTCACAGTA... |
Task1_train_9652 | A variant found in Chromosome 5 affects CSF1R (colony stimulating factor 1 receptor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | CTTTACCGGCCACCCACCCCAAGCCTCACCCCACTCACCCGCTCTCTCCTGTCCTCTTGGGCCTGCTCCTGAAGGAAGGAGCAGATCTGCTGGAAGGTGGGTCTGTGGGTGGGCTCCAAGGCCCAGCAGGCCTGCATGATGCTGTATCTGGGAGATAGGACAGAGGATGCCCATGGGCAGCTCCCTAGGGTCCAGGGGCCATTAACACACACCCCTAGAGAGACCTACCCAGCAGAGGTCCCCAAACCCAGTCAAAGTAAGTTTAGTATAAAACCTATGCCAAGTCCTTGGCATGCTTTACCATTTAATCCTCACAGTAA... | CTTTACCGGCCACCCACCCCAAGCCTCACCCCACTCACCCGCTCTCTCCTGTCCTCTTGGGCCTGCTCCTGAAGGAAGGAGCAGATCTGCTGGAAGGTGGGTCTGTGGGTGGGCTCCAAGGCCCAGCAGGCCTGCATGATGCTGTATCTGGGAGATAGGACAGAGGATGCCCATGGGCAGCTCCCTAGGGTCCAGGGGCCATTAACACACACCCCTAGAGAGACCTACCCAGCAGAGGTCCCCAAACCCAGTCAAAGTAAGTTTAGTATAAAACCTATGCCAAGTCCTTGGCATGCTTTACCATTTAATCCTCACAGTAA... |
Task1_train_9653 | Given this variant in gene CSF1R (colony stimulating factor 1 receptor) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | CAAATGCAGGCTGGGCCATTTGGTATCCATCCTTCACCAGTTTATAGAACTTGCTGTTCACCAGGATGCCAGGGTAGGGATTCAGCCCTGCAAAGGCCAAGATCAGGTAAGAGGCCATGCCCATTGTCTTCTCCCCATTCCCGCACACCCACACACATCTTAGACTGGGTTTAAAGGGTCCCACTTGACAACACTGCAACAGCAGCTACTCTTACCCGGTGCTTCCTGTGTGCCAGCCAGTGTGTGGCAGGCTTAGGCTTTAGGAAGGTGTGAGCCTCTATCCAGGCCTTATCACACCAAACATTCTTGCACAGGCTTTG... | CAAATGCAGGCTGGGCCATTTGGTATCCATCCTTCACCAGTTTATAGAACTTGCTGTTCACCAGGATGCCAGGGTAGGGATTCAGCCCTGCAAAGGCCAAGATCAGGTAAGAGGCCATGCCCATTGTCTTCTCCCCATTCCCGCACACCCACACACATCTTAGACTGGGTTTAAAGGGTCCCACTTGACAACACTGCAACAGCAGCTACTCTTACCCGGTGCTTCCTGTGTGCCAGCCAGTGTGTGGCAGGCTTAGGCTTTAGGAAGGTGTGAGCCTCTATCCAGGCCTTATCACACCAAACATTCTTGCACAGGCTTTG... |
Task1_train_9654 | Consider this mutation in CSF1R (colony stimulating factor 1 receptor) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | AGATGGCCATAAAACCTGTGGTGGCTACTTCCCATGACACAGGTGGCAGGTGAGGGCTGCATAGCCACCCATTCATGAGCCATCCAACCCTGAGCTGGCTTTGAAGACAGACTCGGATCCTGCCTCCCAGACCTGGCCTTTTTCTTGTCCTTTGCCAGGGGCTACCTGCGGACATATTTCTTCTCGAGGTGGATGTTCTTATAGTCGACGCCTCCCTCGGGGTCCTGGCCGGGGCTCAGGCTGGGTCCCAGCATGGCCTCAGCCTTCCTTCGCAGAAAGTTGAGCAGGTCGCCATAGCAACAGTACTCCGTGATGACCAG... | AGATGGCCATAAAACCTGTGGTGGCTACTTCCCATGACACAGGTGGCAGGTGAGGGCTGCATAGCCACCCATTCATGAGCCATCCAACCCTGAGCTGGCTTTGAAGACAGACTCGGATCCTGCCTCCCAGACCTGGCCTTTTTCTTGTCCTTTGCCAGGGGCTACCTGCGGACATATTTCTTCTCGAGGTGGATGTTCTTATAGTCGACGCCTCCCTCGGGGTCCTGGCCGGGGCTCAGGCTGGGTCCCAGCATGGCCTCAGCCTTCCTTCGCAGAAAGTTGAGCAGGTCGCCATAGCAACAGTACTCCGTGATGACCAG... |
Task1_train_9655 | Consider this mutation in CSF1R (colony stimulating factor 1 receptor) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | GCACCAGCTCTGCAGGCACCAGTGTCAAGGCTGGGGGCCCTGGGATGACTGAGACCGGGGGAGAGACCCCTGAACACCCAGGCTCCCTGAACATGATAGAGATATTGCTCTCCTCCCTGCCATGGGCCAGGACACACAGGCCAGGGTCCCCATCACTGCCCCATCCCAAATCCTGGGAGGCAGCCTTGATGCTCCCAGTCCCCCCACTGCAAGGCCTGTCCTAAAGAGACCTTGGAAAGTCTACTTTCTCCATCACCTCTACCCCTCCCCAGTCCCGTCACCATTCTCCACTCTGGACTTCTGCACCAGCCTCCTCAGAG... | GCACCAGCTCTGCAGGCACCAGTGTCAAGGCTGGGGGCCCTGGGATGACTGAGACCGGGGGAGAGACCCCTGAACACCCAGGCTCCCTGAACATGATAGAGATATTGCTCTCCTCCCTGCCATGGGCCAGGACACACAGGCCAGGGTCCCCATCACTGCCCCATCCCAAATCCTGGGAGGCAGCCTTGATGCTCCCAGTCCCCCCACTGCAAGGCCTGTCCTAAAGAGACCTTGGAAAGTCTACTTTCTCCATCACCTCTACCCCTCCCCAGTCCCGTCACCATTCTCCACTCTGGACTTCTGCACCAGCCTCCTCAGAG... |
Task1_train_9656 | A variant was discovered on Chromosome 5, affecting PDGFRB (platelet derived growth factor receptor beta). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Infantile myofibromatosis | GCCTCTGGCCCAGGGTTCAGGGGACAAGGCAGGGCTGGGGGAGCAGGAGGCTGCTGCCTCTCAGAACAAGGTGAGCCATGGAAAGGAGCTGGAGGGAAGTGGTGGCTGGGTGTATCCAGAGGTCCTGTCTCTGGATATTCCCTTGGGAGGCCCTCGCAGAGCCCCCATTCCACATGGTTCCACAGGTTGACTACGCCTGGGTGAGCACAGGAGCCAACCTTCGCCAACAGTTTTCAGCCCTGCAGCTTCCACGGTTGGTTCTTGATGGCATGTGACCCCACCTGAGCCCTTGAAGGTCAGCTCTGGGACTTTTGCTGGCA... | GCCTCTGGCCCAGGGTTCAGGGGACAAGGCAGGGCTGGGGGAGCAGGAGGCTGCTGCCTCTCAGAACAAGGTGAGCCATGGAAAGGAGCTGGAGGGAAGTGGTGGCTGGGTGTATCCAGAGGTCCTGTCTCTGGATATTCCCTTGGGAGGCCCTCGCAGAGCCCCCATTCCACATGGTTCCACAGGTTGACTACGCCTGGGTGAGCACAGGAGCCAACCTTCGCCAACAGTTTTCAGCCCTGCAGCTTCCACGGTTGGTTCTTGATGGCATGTGACCCCACCTGAGCCCTTGAAGGTCAGCTCTGGGACTTTTGCTGGCA... |
Task1_train_9657 | A mutation on Chromosome 5 affecting PDGFRB (platelet derived growth factor receptor beta) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | CAAGGTGAGCCATGGAAAGGAGCTGGAGGGAAGTGGTGGCTGGGTGTATCCAGAGGTCCTGTCTCTGGATATTCCCTTGGGAGGCCCTCGCAGAGCCCCCATTCCACATGGTTCCACAGGTTGACTACGCCTGGGTGAGCACAGGAGCCAACCTTCGCCAACAGTTTTCAGCCCTGCAGCTTCCACGGTTGGTTCTTGATGGCATGTGACCCCACCTGAGCCCTTGAAGGTCAGCTCTGGGACTTTTGCTGGCACTATGGAGCAAGCAGTAGGACATGAGACTGGCACTGCTGGTAGCCATTTGGGCAATGCTGGCCTGA... | CAAGGTGAGCCATGGAAAGGAGCTGGAGGGAAGTGGTGGCTGGGTGTATCCAGAGGTCCTGTCTCTGGATATTCCCTTGGGAGGCCCTCGCAGAGCCCCCATTCCACATGGTTCCACAGGTTGACTACGCCTGGGTGAGCACAGGAGCCAACCTTCGCCAACAGTTTTCAGCCCTGCAGCTTCCACGGTTGGTTCTTGATGGCATGTGACCCCACCTGAGCCCTTGAAGGTCAGCTCTGGGACTTTTGCTGGCACTATGGAGCAAGCAGTAGGACATGAGACTGGCACTGCTGGTAGCCATTTGGGCAATGCTGGCCTGA... |
Task1_train_9658 | With a mutation on Chromosome 5 in gene PDGFRB (platelet derived growth factor receptor beta), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Basal ganglia calcification, idiopathic, 4 | CAAGGTGAGCCATGGAAAGGAGCTGGAGGGAAGTGGTGGCTGGGTGTATCCAGAGGTCCTGTCTCTGGATATTCCCTTGGGAGGCCCTCGCAGAGCCCCCATTCCACATGGTTCCACAGGTTGACTACGCCTGGGTGAGCACAGGAGCCAACCTTCGCCAACAGTTTTCAGCCCTGCAGCTTCCACGGTTGGTTCTTGATGGCATGTGACCCCACCTGAGCCCTTGAAGGTCAGCTCTGGGACTTTTGCTGGCACTATGGAGCAAGCAGTAGGACATGAGACTGGCACTGCTGGTAGCCATTTGGGCAATGCTGGCCTGA... | CAAGGTGAGCCATGGAAAGGAGCTGGAGGGAAGTGGTGGCTGGGTGTATCCAGAGGTCCTGTCTCTGGATATTCCCTTGGGAGGCCCTCGCAGAGCCCCCATTCCACATGGTTCCACAGGTTGACTACGCCTGGGTGAGCACAGGAGCCAACCTTCGCCAACAGTTTTCAGCCCTGCAGCTTCCACGGTTGGTTCTTGATGGCATGTGACCCCACCTGAGCCCTTGAAGGTCAGCTCTGGGACTTTTGCTGGCACTATGGAGCAAGCAGTAGGACATGAGACTGGCACTGCTGGTAGCCATTTGGGCAATGCTGGCCTGA... |
Task1_train_9659 | Given this variant in gene PDGFRB (platelet derived growth factor receptor beta) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Acroosteolysis-keloid-like lesions-premature aging syndrome | CAAGGTGAGCCATGGAAAGGAGCTGGAGGGAAGTGGTGGCTGGGTGTATCCAGAGGTCCTGTCTCTGGATATTCCCTTGGGAGGCCCTCGCAGAGCCCCCATTCCACATGGTTCCACAGGTTGACTACGCCTGGGTGAGCACAGGAGCCAACCTTCGCCAACAGTTTTCAGCCCTGCAGCTTCCACGGTTGGTTCTTGATGGCATGTGACCCCACCTGAGCCCTTGAAGGTCAGCTCTGGGACTTTTGCTGGCACTATGGAGCAAGCAGTAGGACATGAGACTGGCACTGCTGGTAGCCATTTGGGCAATGCTGGCCTGA... | CAAGGTGAGCCATGGAAAGGAGCTGGAGGGAAGTGGTGGCTGGGTGTATCCAGAGGTCCTGTCTCTGGATATTCCCTTGGGAGGCCCTCGCAGAGCCCCCATTCCACATGGTTCCACAGGTTGACTACGCCTGGGTGAGCACAGGAGCCAACCTTCGCCAACAGTTTTCAGCCCTGCAGCTTCCACGGTTGGTTCTTGATGGCATGTGACCCCACCTGAGCCCTTGAAGGTCAGCTCTGGGACTTTTGCTGGCACTATGGAGCAAGCAGTAGGACATGAGACTGGCACTGCTGGTAGCCATTTGGGCAATGCTGGCCTGA... |
Task1_train_9660 | The following genetic variant occurs in PDGFRB (platelet derived growth factor receptor beta) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Infantile myofibromatosis | CAAGGTGAGCCATGGAAAGGAGCTGGAGGGAAGTGGTGGCTGGGTGTATCCAGAGGTCCTGTCTCTGGATATTCCCTTGGGAGGCCCTCGCAGAGCCCCCATTCCACATGGTTCCACAGGTTGACTACGCCTGGGTGAGCACAGGAGCCAACCTTCGCCAACAGTTTTCAGCCCTGCAGCTTCCACGGTTGGTTCTTGATGGCATGTGACCCCACCTGAGCCCTTGAAGGTCAGCTCTGGGACTTTTGCTGGCACTATGGAGCAAGCAGTAGGACATGAGACTGGCACTGCTGGTAGCCATTTGGGCAATGCTGGCCTGA... | CAAGGTGAGCCATGGAAAGGAGCTGGAGGGAAGTGGTGGCTGGGTGTATCCAGAGGTCCTGTCTCTGGATATTCCCTTGGGAGGCCCTCGCAGAGCCCCCATTCCACATGGTTCCACAGGTTGACTACGCCTGGGTGAGCACAGGAGCCAACCTTCGCCAACAGTTTTCAGCCCTGCAGCTTCCACGGTTGGTTCTTGATGGCATGTGACCCCACCTGAGCCCTTGAAGGTCAGCTCTGGGACTTTTGCTGGCACTATGGAGCAAGCAGTAGGACATGAGACTGGCACTGCTGGTAGCCATTTGGGCAATGCTGGCCTGA... |
Task1_train_9661 | A variant has been detected on Chromosome 5 in PDGFRB (platelet derived growth factor receptor beta). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Infantile myofibromatosis | GCTACCAAAATGACAGTTAGAACCCAGAGAGCTCACACCCAGAGGCGATTACAGCACCCCAGGGCAAAGGTCACAAGACGGGTGTGTTCAGAGGCGCCTTCCTGTGGCCTCCCCAGCGCCACCTGGCCATGGGAGTGCCTGACTGCAACCCAGCATAGGCAGCCAGGATTCACCCCGCTACCTATGCCTGTAGCATCAGCTCCCCAAAGAGCTGTGGGGCTCTACACACATCTGTCTCTATAGGCAGGAAAAAGATGGGAGAAGCCCTTTGGCTCCTGGGAGACTGAATGTCAAAACATTGGAGAGGACATGAGTGGGTT... | GCTACCAAAATGACAGTTAGAACCCAGAGAGCTCACACCCAGAGGCGATTACAGCACCCCAGGGCAAAGGTCACAAGACGGGTGTGTTCAGAGGCGCCTTCCTGTGGCCTCCCCAGCGCCACCTGGCCATGGGAGTGCCTGACTGCAACCCAGCATAGGCAGCCAGGATTCACCCCGCTACCTATGCCTGTAGCATCAGCTCCCCAAAGAGCTGTGGGGCTCTACACACATCTGTCTCTATAGGCAGGAAAAAGATGGGAGAAGCCCTTTGGCTCCTGGGAGACTGAATGTCAAAACATTGGAGAGGACATGAGTGGGTT... |
Task1_train_9662 | The variant affects gene PDGFRB (platelet derived growth factor receptor beta), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Acroosteolysis-keloid-like lesions-premature aging syndrome | CCAAAATGACAGTTAGAACCCAGAGAGCTCACACCCAGAGGCGATTACAGCACCCCAGGGCAAAGGTCACAAGACGGGTGTGTTCAGAGGCGCCTTCCTGTGGCCTCCCCAGCGCCACCTGGCCATGGGAGTGCCTGACTGCAACCCAGCATAGGCAGCCAGGATTCACCCCGCTACCTATGCCTGTAGCATCAGCTCCCCAAAGAGCTGTGGGGCTCTACACACATCTGTCTCTATAGGCAGGAAAAAGATGGGAGAAGCCCTTTGGCTCCTGGGAGACTGAATGTCAAAACATTGGAGAGGACATGAGTGGGTTTTAA... | CCAAAATGACAGTTAGAACCCAGAGAGCTCACACCCAGAGGCGATTACAGCACCCCAGGGCAAAGGTCACAAGACGGGTGTGTTCAGAGGCGCCTTCCTGTGGCCTCCCCAGCGCCACCTGGCCATGGGAGTGCCTGACTGCAACCCAGCATAGGCAGCCAGGATTCACCCCGCTACCTATGCCTGTAGCATCAGCTCCCCAAAGAGCTGTGGGGCTCTACACACATCTGTCTCTATAGGCAGGAAAAAGATGGGAGAAGCCCTTTGGCTCCTGGGAGACTGAATGTCAAAACATTGGAGAGGACATGAGTGGGTTTTAA... |
Task1_train_9663 | This is a variant in PDGFRB (platelet derived growth factor receptor beta), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; Basal ganglia calcification, idiopathic, 4 | AGAGAGCTCACACCCAGAGGCGATTACAGCACCCCAGGGCAAAGGTCACAAGACGGGTGTGTTCAGAGGCGCCTTCCTGTGGCCTCCCCAGCGCCACCTGGCCATGGGAGTGCCTGACTGCAACCCAGCATAGGCAGCCAGGATTCACCCCGCTACCTATGCCTGTAGCATCAGCTCCCCAAAGAGCTGTGGGGCTCTACACACATCTGTCTCTATAGGCAGGAAAAAGATGGGAGAAGCCCTTTGGCTCCTGGGAGACTGAATGTCAAAACATTGGAGAGGACATGAGTGGGTTTTAAGGTCTTTTACGCTTTTCTGAA... | AGAGAGCTCACACCCAGAGGCGATTACAGCACCCCAGGGCAAAGGTCACAAGACGGGTGTGTTCAGAGGCGCCTTCCTGTGGCCTCCCCAGCGCCACCTGGCCATGGGAGTGCCTGACTGCAACCCAGCATAGGCAGCCAGGATTCACCCCGCTACCTATGCCTGTAGCATCAGCTCCCCAAAGAGCTGTGGGGCTCTACACACATCTGTCTCTATAGGCAGGAAAAAGATGGGAGAAGCCCTTTGGCTCCTGGGAGACTGAATGTCAAAACATTGGAGAGGACATGAGTGGGTTTTAAGGTCTTTTACGCTTTTCTGAA... |
Task1_train_9664 | An alteration has been detected in PDGFRB (platelet derived growth factor receptor beta) on Chromosome 5. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | ATTAATGAGATGATGTCTTTATTGGCTGGGCACGTGGCGAGCTCGCAGTGTTGGCTCTTATTGATATGTTTTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCA... | ATTAATGAGATGATGTCTTTATTGGCTGGGCACGTGGCGAGCTCGCAGTGTTGGCTCTTATTGATATGTTTTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCA... |
Task1_train_9665 | A mutation on Chromosome 5 affecting PDGFRB (platelet derived growth factor receptor beta) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Myeloproliferative disorder, chronic, with eosinophilia | ATTAATGAGATGATGTCTTTATTGGCTGGGCACGTGGCGAGCTCGCAGTGTTGGCTCTTATTGATATGTTTTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCA... | ATTAATGAGATGATGTCTTTATTGGCTGGGCACGTGGCGAGCTCGCAGTGTTGGCTCTTATTGATATGTTTTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCA... |
Task1_train_9666 | A change on Chromosome 5 affects gene PDGFRB (platelet derived growth factor receptor beta). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Myofibromatosis, infantile, 1 | GGCTCTTATTGATATGTTTTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCACAATAAGCAGCTGCAAATGGTGATAACATTTTTTTTCAGCCTAACTGGCAAT... | GGCTCTTATTGATATGTTTTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCACAATAAGCAGCTGCAAATGGTGATAACATTTTTTTTCAGCCTAACTGGCAAT... |
Task1_train_9667 | This gene mutation involves PDGFRB (platelet derived growth factor receptor beta) on Chromosome 5. Is it associated with any clinical condition, or is it benign? | Pathogenic; Infantile myofibromatosis | GTTTTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCACAATAAGCAGCTGCAAATGGTGATAACATTTTTTTTCAGCCTAACTGGCAATCAGAGCTTCAAATAG... | GTTTTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCACAATAAGCAGCTGCAAATGGTGATAACATTTTTTTTCAGCCTAACTGGCAATCAGAGCTTCAAATAG... |
Task1_train_9668 | A genetic alteration is present in PDGFRB (platelet derived growth factor receptor beta) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Acroosteolysis-keloid-like lesions-premature aging syndrome | TTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCACAATAAGCAGCTGCAAATGGTGATAACATTTTTTTTCAGCCTAACTGGCAATCAGAGCTTCAAATAGACC... | TTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCACAATAAGCAGCTGCAAATGGTGATAACATTTTTTTTCAGCCTAACTGGCAATCAGAGCTTCAAATAGACC... |
Task1_train_9669 | This variant lies on Chromosome 5 and affects the gene PDGFRB (platelet derived growth factor receptor beta). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Basal ganglia calcification, idiopathic, 4 | TTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCACAATAAGCAGCTGCAAATGGTGATAACATTTTTTTTCAGCCTAACTGGCAATCAGAGCTTCAAATAGACC... | TTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCACAATAAGCAGCTGCAAATGGTGATAACATTTTTTTTCAGCCTAACTGGCAATCAGAGCTTCAAATAGACC... |
Task1_train_9670 | The following genetic variant occurs in PDGFRB (platelet derived growth factor receptor beta) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Infantile myofibromatosis | TTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCACAATAAGCAGCTGCAAATGGTGATAACATTTTTTTTCAGCCTAACTGGCAATCAGAGCTTCAAATAGACC... | TTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCACAATAAGCAGCTGCAAATGGTGATAACATTTTTTTTCAGCCTAACTGGCAATCAGAGCTTCAAATAGACC... |
Task1_train_9671 | A genomic change on Chromosome 5 affects PDGFRB (platelet derived growth factor receptor beta). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | TTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCACAATAAGCAGCTGCAAATGGTGATAACATTTTTTTTCAGCCTAACTGGCAATCAGAGCTTCAAATAGACC... | TTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCACAATAAGCAGCTGCAAATGGTGATAACATTTTTTTTCAGCCTAACTGGCAATCAGAGCTTCAAATAGACC... |
Task1_train_9672 | Here’s a variant in PDGFRB (platelet derived growth factor receptor beta) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Myofibromatosis, infantile, 1 | TTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCACAATAAGCAGCTGCAAATGGTGATAACATTTTTTTTCAGCCTAACTGGCAATCAGAGCTTCAAATAGACC... | TTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCACAATAAGCAGCTGCAAATGGTGATAACATTTTTTTTCAGCCTAACTGGCAATCAGAGCTTCAAATAGACC... |
Task1_train_9673 | Gene PDGFRB (platelet derived growth factor receptor beta) on Chromosome 5 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Infantile myofibromatosis | TTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCACAATAAGCAGCTGCAAATGGTGATAACATTTTTTTTCAGCCTAACTGGCAATCAGAGCTTCAAATAGACC... | TTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCACAATAAGCAGCTGCAAATGGTGATAACATTTTTTTTCAGCCTAACTGGCAATCAGAGCTTCAAATAGACC... |
Task1_train_9674 | The gene PDGFRB (platelet derived growth factor receptor beta), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Basal ganglia calcification, idiopathic, 4 | TTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCACAATAAGCAGCTGCAAATGGTGATAACATTTTTTTTCAGCCTAACTGGCAATCAGAGCTTCAAATAGACC... | TTCAAACTAAAGCTTACTTTGGAGCCCAGTATAGAAAGCAGATAAAGGCCACTGTTTACAACGATCACTTTAGTAGTTAAATTCAACTACAATGCATTTACTTAAAGTCAATCAGTGAGAACTTGAAGATATCTACACAAACGAAAATGTTGAAATGAGCGATCATTGCAAACGTGAATAAGTCTATGTACCCAACATACTTCTGTATTTTATTTTGGTTGCATAATGCTGAGGAAAATCCCAAATCTCACAATAAGCAGCTGCAAATGGTGATAACATTTTTTTTCAGCCTAACTGGCAATCAGAGCTTCAAATAGACC... |
Task1_train_9675 | An alteration has been detected in PDGFRB (platelet derived growth factor receptor beta) on Chromosome 5. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Infantile myofibromatosis | CAGGCCGAGGAGGCCAGGGAGAGGAACGCTCTTTCCCAAACCAGACCCAGACTCGGGAGCAGTGCCTGCTGCAGTGTGATGGCCCCTCTAGTGCCTGCAAATCAGCATCAGGCCACCCTGGGAGAGGCTAAGTGTGTGGGGAGGGGCAGGGAGAGGTGAAGGCCCAGATGTGGAGGGCTCCAAGGACTACTCACATTTAAGCATCTTGACGGCCACTTTCATCGTGGCCTGAGAATGGCTCAGGCCATGAGCCGTGGCCTCCACCACCTGCCCAAAGGCCCCAGAGCCGAGGGTGCGTCCTGGTGCAGAGATGATCCATT... | CAGGCCGAGGAGGCCAGGGAGAGGAACGCTCTTTCCCAAACCAGACCCAGACTCGGGAGCAGTGCCTGCTGCAGTGTGATGGCCCCTCTAGTGCCTGCAAATCAGCATCAGGCCACCCTGGGAGAGGCTAAGTGTGTGGGGAGGGGCAGGGAGAGGTGAAGGCCCAGATGTGGAGGGCTCCAAGGACTACTCACATTTAAGCATCTTGACGGCCACTTTCATCGTGGCCTGAGAATGGCTCAGGCCATGAGCCGTGGCCTCCACCACCTGCCCAAAGGCCCCAGAGCCGAGGGTGCGTCCTGGTGCAGAGATGATCCATT... |
Task1_train_9676 | A variant was discovered in gene CAMK2A (calcium/calmodulin dependent protein kinase II alpha), Chromosome 5. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Intellectual disability, autosomal recessive 63 | ATCCCTGGGGACGTGGCTCTTCCTCCCCTAAAATCCTCCAGAGGGGACAGTATCTCATGCTGGCAAAACACGGCCACACAGAGGCCAAAAGCACAGAGAGGCAGCAACATAATTCCGAGTCGGACACTGAGAATACAACCTCTATTTTTTTTTTTAGTCCAAAACATGTAGATTGGTTTTGTTGAGTGTTTTCTTCTTTTTGTTTGTTTTCAACATACTTACTGCGTATAAAGTCATGCAAAGAAAACAGTGCAGACAGTAGATCCTAGTGGATGTGCCAAGGTATTCCACTCAGAGTCAATCCCAGGGAAAGAGGGAAA... | ATCCCTGGGGACGTGGCTCTTCCTCCCCTAAAATCCTCCAGAGGGGACAGTATCTCATGCTGGCAAAACACGGCCACACAGAGGCCAAAAGCACAGAGAGGCAGCAACATAATTCCGAGTCGGACACTGAGAATACAACCTCTATTTTTTTTTTTAGTCCAAAACATGTAGATTGGTTTTGTTGAGTGTTTTCTTCTTTTTGTTTGTTTTCAACATACTTACTGCGTATAAAGTCATGCAAAGAAAACAGTGCAGACAGTAGATCCTAGTGGATGTGCCAAGGTATTCCACTCAGAGTCAATCCCAGGGAAAGAGGGAAA... |
Task1_train_9677 | A genetic alteration is present in CAMK2A (calcium/calmodulin dependent protein kinase II alpha) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | ATAGGCCTCCCCAACCTCAGACTCCAGAGCCCCATATTGGCACTGGCTATGGCCCGGGTGGCAGGGACAACCAGAGCAACAGCTCTTTGGGGGCTTCCCCTGCTGTCATTTCCCCTTACCTCCCTCCTCACCTCCTGGCCAGAGCCCTGGAAGTGGGCATCAGCCAGGAAATGGCCTGAATGTCCAGCCCTGCCCACAGGCATCCGGCTGCTTCAGACTTAAGCAAATACCTTAAATGAAACAAGGTATCTGTGAAGTACTTAGCAAAGCACCTGACCCATAAGCCGCACATGCTCAGGAAATGGTAGCCATGATAAGAC... | ATAGGCCTCCCCAACCTCAGACTCCAGAGCCCCATATTGGCACTGGCTATGGCCCGGGTGGCAGGGACAACCAGAGCAACAGCTCTTTGGGGGCTTCCCCTGCTGTCATTTCCCCTTACCTCCCTCCTCACCTCCTGGCCAGAGCCCTGGAAGTGGGCATCAGCCAGGAAATGGCCTGAATGTCCAGCCCTGCCCACAGGCATCCGGCTGCTTCAGACTTAAGCAAATACCTTAAATGAAACAAGGTATCTGTGAAGTACTTAGCAAAGCACCTGACCCATAAGCCGCACATGCTCAGGAAATGGTAGCCATGATAAGAC... |
Task1_train_9678 | A variant was discovered on Chromosome 5, affecting CAMK2A (calcium/calmodulin dependent protein kinase II alpha). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Intellectual disability, autosomal dominant 53 | CTGAGAGCATCTTGCTCCAGGACTAGCTCATCCCTCCATGGCCCCTGGGCTCAGAGAATCCCAGGAGGATTTTCTCTTTTTTTTTTTTATTTCCAAGTTTTTTATTTTATATATATATATATATTATATAATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCACGTTGGTGTGCTGCACCCATTAACTCGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCACAACAGGCCCCGGTGTGTGATGTTCCCCTTCCTGTGTCCAAGT... | CTGAGAGCATCTTGCTCCAGGACTAGCTCATCCCTCCATGGCCCCTGGGCTCAGAGAATCCCAGGAGGATTTTCTCTTTTTTTTTTTTATTTCCAAGTTTTTTATTTTATATATATATATATATTATATAATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCACGTTGGTGTGCTGCACCCATTAACTCGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCACAACAGGCCCCGGTGTGTGATGTTCCCCTTCCTGTGTCCAAGT... |
Task1_train_9679 | The gene CAMK2A (calcium/calmodulin dependent protein kinase II alpha), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Intellectual disability | CTGAGAGCATCTTGCTCCAGGACTAGCTCATCCCTCCATGGCCCCTGGGCTCAGAGAATCCCAGGAGGATTTTCTCTTTTTTTTTTTTATTTCCAAGTTTTTTATTTTATATATATATATATATTATATAATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCACGTTGGTGTGCTGCACCCATTAACTCGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCACAACAGGCCCCGGTGTGTGATGTTCCCCTTCCTGTGTCCAAGT... | CTGAGAGCATCTTGCTCCAGGACTAGCTCATCCCTCCATGGCCCCTGGGCTCAGAGAATCCCAGGAGGATTTTCTCTTTTTTTTTTTTATTTCCAAGTTTTTTATTTTATATATATATATATATTATATAATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCACGTTGGTGTGCTGCACCCATTAACTCGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCACAACAGGCCCCGGTGTGTGATGTTCCCCTTCCTGTGTCCAAGT... |
Task1_train_9680 | A variant affecting Chromosome 5, within the gene CAMK2A (calcium/calmodulin dependent protein kinase II alpha), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Intellectual disability, autosomal dominant 53 | TTGCTCCAGGACTAGCTCATCCCTCCATGGCCCCTGGGCTCAGAGAATCCCAGGAGGATTTTCTCTTTTTTTTTTTTATTTCCAAGTTTTTTATTTTATATATATATATATATTATATAATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCACGTTGGTGTGCTGCACCCATTAACTCGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCACAACAGGCCCCGGTGTGTGATGTTCCCCTTCCTGTGTCCAAGTGTTCTCATTGT... | TTGCTCCAGGACTAGCTCATCCCTCCATGGCCCCTGGGCTCAGAGAATCCCAGGAGGATTTTCTCTTTTTTTTTTTTATTTCCAAGTTTTTTATTTTATATATATATATATATTATATAATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCACGTTGGTGTGCTGCACCCATTAACTCGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCACAACAGGCCCCGGTGTGTGATGTTCCCCTTCCTGTGTCCAAGTGTTCTCATTGT... |
Task1_train_9681 | A change on Chromosome 5 affects gene CAMK2A (calcium/calmodulin dependent protein kinase II alpha). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Intellectual disability | TTGCTCCAGGACTAGCTCATCCCTCCATGGCCCCTGGGCTCAGAGAATCCCAGGAGGATTTTCTCTTTTTTTTTTTTATTTCCAAGTTTTTTATTTTATATATATATATATATTATATAATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCACGTTGGTGTGCTGCACCCATTAACTCGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCACAACAGGCCCCGGTGTGTGATGTTCCCCTTCCTGTGTCCAAGTGTTCTCATTGT... | TTGCTCCAGGACTAGCTCATCCCTCCATGGCCCCTGGGCTCAGAGAATCCCAGGAGGATTTTCTCTTTTTTTTTTTTATTTCCAAGTTTTTTATTTTATATATATATATATATTATATAATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCACGTTGGTGTGCTGCACCCATTAACTCGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCACAACAGGCCCCGGTGTGTGATGTTCCCCTTCCTGTGTCCAAGTGTTCTCATTGT... |
Task1_train_9682 | The following genetic variant occurs in CAMK2A (calcium/calmodulin dependent protein kinase II alpha) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Intellectual disability, autosomal dominant 53 | CTGGTCTTGAACTTCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGTCACTGCGCCCGGCCACACTTTCCCATTCTGACTCTAACTTGGCTAATACCTGCTTATCCTCCAAGGTCTCAGCTTAAACGCCCCTGGCTCCAGACCCAGAATACCATTGTCCTGCTGCATTCTGCCACCATCTTGAGGCTTTCCCAGGCATGGCACTCACCACTGCCCCATAACGCCCCAGGAACTTGTCTGTCCTCTCCACTAGAGCAAGGGCTCAGTCATTCACCGCTCACTCCCCAAGCCCAA... | CTGGTCTTGAACTTCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGTCACTGCGCCCGGCCACACTTTCCCATTCTGACTCTAACTTGGCTAATACCTGCTTATCCTCCAAGGTCTCAGCTTAAACGCCCCTGGCTCCAGACCCAGAATACCATTGTCCTGCTGCATTCTGCCACCATCTTGAGGCTTTCCCAGGCATGGCACTCACCACTGCCCCATAACGCCCCAGGAACTTGTCTGTCCTCTCCACTAGAGCAAGGGCTCAGTCATTCACCGCTCACTCCCCAAGCCCAA... |
Task1_train_9683 | Here’s a variant in CAMK2A (calcium/calmodulin dependent protein kinase II alpha) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Intellectual disability, autosomal dominant 53 | CTGGTCTTGAACTTCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGTCACTGCGCCCGGCCACACTTTCCCATTCTGACTCTAACTTGGCTAATACCTGCTTATCCTCCAAGGTCTCAGCTTAAACGCCCCTGGCTCCAGACCCAGAATACCATTGTCCTGCTGCATTCTGCCACCATCTTGAGGCTTTCCCAGGCATGGCACTCACCACTGCCCCATAACGCCCCAGGAACTTGTCTGTCCTCTCCACTAGAGCAAGGGCTCAGTCATTCACCGCTCACTCCCCAAGCCCAA... | CTGGTCTTGAACTTCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGTCACTGCGCCCGGCCACACTTTCCCATTCTGACTCTAACTTGGCTAATACCTGCTTATCCTCCAAGGTCTCAGCTTAAACGCCCCTGGCTCCAGACCCAGAATACCATTGTCCTGCTGCATTCTGCCACCATCTTGAGGCTTTCCCAGGCATGGCACTCACCACTGCCCCATAACGCCCCAGGAACTTGTCTGTCCTCTCCACTAGAGCAAGGGCTCAGTCATTCACCGCTCACTCCCCAAGCCCAA... |
Task1_train_9684 | A variant was discovered on Chromosome 5, affecting CAMK2A (calcium/calmodulin dependent protein kinase II alpha). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Intellectual disability, autosomal dominant 53 | TGGCACTCACCACTGCCCCATAACGCCCCAGGAACTTGTCTGTCCTCTCCACTAGAGCAAGGGCTCAGTCATTCACCGCTCACTCCCCAAGCCCAACCTGCTGTCCAGTATGCAGTAGGTGTTCAATAAATGCTTATTGAATCAATGAAGGAAAGAATTAGTGAGCGAGTCTCCTGGCCTCTGTGGAGACCCAGGCAGAGCTAGTCCCATGGCCAGGACTGTGGAGGGTGAGGACCTGTTACCTTCAGTTTCCTCCTGGCATTGAACTTCTTCAGGCAGTCCACGGTCTCCTGTCTGTGCATGCAGGATGCCACGGTGGA... | TGGCACTCACCACTGCCCCATAACGCCCCAGGAACTTGTCTGTCCTCTCCACTAGAGCAAGGGCTCAGTCATTCACCGCTCACTCCCCAAGCCCAACCTGCTGTCCAGTATGCAGTAGGTGTTCAATAAATGCTTATTGAATCAATGAAGGAAAGAATTAGTGAGCGAGTCTCCTGGCCTCTGTGGAGACCCAGGCAGAGCTAGTCCCATGGCCAGGACTGTGGAGGGTGAGGACCTGTTACCTTCAGTTTCCTCCTGGCATTGAACTTCTTCAGGCAGTCCACGGTCTCCTGTCTGTGCATGCAGGATGCCACGGTGGA... |
Task1_train_9685 | Given a variant located on Chromosome 5 and affecting CAMK2A (calcium/calmodulin dependent protein kinase II alpha), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Intellectual disability | TGGCACTCACCACTGCCCCATAACGCCCCAGGAACTTGTCTGTCCTCTCCACTAGAGCAAGGGCTCAGTCATTCACCGCTCACTCCCCAAGCCCAACCTGCTGTCCAGTATGCAGTAGGTGTTCAATAAATGCTTATTGAATCAATGAAGGAAAGAATTAGTGAGCGAGTCTCCTGGCCTCTGTGGAGACCCAGGCAGAGCTAGTCCCATGGCCAGGACTGTGGAGGGTGAGGACCTGTTACCTTCAGTTTCCTCCTGGCATTGAACTTCTTCAGGCAGTCCACGGTCTCCTGTCTGTGCATGCAGGATGCCACGGTGGA... | TGGCACTCACCACTGCCCCATAACGCCCCAGGAACTTGTCTGTCCTCTCCACTAGAGCAAGGGCTCAGTCATTCACCGCTCACTCCCCAAGCCCAACCTGCTGTCCAGTATGCAGTAGGTGTTCAATAAATGCTTATTGAATCAATGAAGGAAAGAATTAGTGAGCGAGTCTCCTGGCCTCTGTGGAGACCCAGGCAGAGCTAGTCCCATGGCCAGGACTGTGGAGGGTGAGGACCTGTTACCTTCAGTTTCCTCCTGGCATTGAACTTCTTCAGGCAGTCCACGGTCTCCTGTCTGTGCATGCAGGATGCCACGGTGGA... |
Task1_train_9686 | A genomic change on Chromosome 5 affects CAMK2A (calcium/calmodulin dependent protein kinase II alpha). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Intellectual disability | ACATATGGGCAAATTATTTCACTTCTCTGAGCTTTAGTTTCCTCTGAGAAAAATGCTTACCTTATGGGGTGGTGCATGGATTAACTGAGATAATCTGTGTAAGCACTTCGCTGTGGCCTACAGTAAGTGCTTGGTAAATGTTAGTACTTCTATTTTTGGCTTGGGGAGGGGCTCAGAGTCTCTGAAGACTGTTGGTTTTGAGTCCTCCTCTGATCCCCTTCCCAGTGGGACTTCTGAAGGGTCCCACCTCTGACCTTTCACTGTCTAAAGCTAGGCTGGACCCAAACAAATATAGCTCCCTCCGCCTGGCTCAAAGGCCT... | ACATATGGGCAAATTATTTCACTTCTCTGAGCTTTAGTTTCCTCTGAGAAAAATGCTTACCTTATGGGGTGGTGCATGGATTAACTGAGATAATCTGTGTAAGCACTTCGCTGTGGCCTACAGTAAGTGCTTGGTAAATGTTAGTACTTCTATTTTTGGCTTGGGGAGGGGCTCAGAGTCTCTGAAGACTGTTGGTTTTGAGTCCTCCTCTGATCCCCTTCCCAGTGGGACTTCTGAAGGGTCCCACCTCTGACCTTTCACTGTCTAAAGCTAGGCTGGACCCAAACAAATATAGCTCCCTCCGCCTGGCTCAAAGGCCT... |
Task1_train_9687 | Here is a variant affecting CAMK2A (calcium/calmodulin dependent protein kinase II alpha) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Intellectual disability, autosomal dominant 53 | ACATATGGGCAAATTATTTCACTTCTCTGAGCTTTAGTTTCCTCTGAGAAAAATGCTTACCTTATGGGGTGGTGCATGGATTAACTGAGATAATCTGTGTAAGCACTTCGCTGTGGCCTACAGTAAGTGCTTGGTAAATGTTAGTACTTCTATTTTTGGCTTGGGGAGGGGCTCAGAGTCTCTGAAGACTGTTGGTTTTGAGTCCTCCTCTGATCCCCTTCCCAGTGGGACTTCTGAAGGGTCCCACCTCTGACCTTTCACTGTCTAAAGCTAGGCTGGACCCAAACAAATATAGCTCCCTCCGCCTGGCTCAAAGGCCT... | ACATATGGGCAAATTATTTCACTTCTCTGAGCTTTAGTTTCCTCTGAGAAAAATGCTTACCTTATGGGGTGGTGCATGGATTAACTGAGATAATCTGTGTAAGCACTTCGCTGTGGCCTACAGTAAGTGCTTGGTAAATGTTAGTACTTCTATTTTTGGCTTGGGGAGGGGCTCAGAGTCTCTGAAGACTGTTGGTTTTGAGTCCTCCTCTGATCCCCTTCCCAGTGGGACTTCTGAAGGGTCCCACCTCTGACCTTTCACTGTCTAAAGCTAGGCTGGACCCAAACAAATATAGCTCCCTCCGCCTGGCTCAAAGGCCT... |
Task1_train_9688 | Consider this mutation in CAMK2A (calcium/calmodulin dependent protein kinase II alpha) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Intellectual disability, autosomal dominant 53 | TAGTTTCCTCTGAGAAAAATGCTTACCTTATGGGGTGGTGCATGGATTAACTGAGATAATCTGTGTAAGCACTTCGCTGTGGCCTACAGTAAGTGCTTGGTAAATGTTAGTACTTCTATTTTTGGCTTGGGGAGGGGCTCAGAGTCTCTGAAGACTGTTGGTTTTGAGTCCTCCTCTGATCCCCTTCCCAGTGGGACTTCTGAAGGGTCCCACCTCTGACCTTTCACTGTCTAAAGCTAGGCTGGACCCAAACAAATATAGCTCCCTCCGCCTGGCTCAAAGGCCTCCTTTGTCCTCTGGGGACAATGTTCCTAACATGT... | TAGTTTCCTCTGAGAAAAATGCTTACCTTATGGGGTGGTGCATGGATTAACTGAGATAATCTGTGTAAGCACTTCGCTGTGGCCTACAGTAAGTGCTTGGTAAATGTTAGTACTTCTATTTTTGGCTTGGGGAGGGGCTCAGAGTCTCTGAAGACTGTTGGTTTTGAGTCCTCCTCTGATCCCCTTCCCAGTGGGACTTCTGAAGGGTCCCACCTCTGACCTTTCACTGTCTAAAGCTAGGCTGGACCCAAACAAATATAGCTCCCTCCGCCTGGCTCAAAGGCCTCCTTTGTCCTCTGGGGACAATGTTCCTAACATGT... |
Task1_train_9689 | A genetic alteration is present in CAMK2A (calcium/calmodulin dependent protein kinase II alpha) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Intellectual disability | TAGTTTCCTCTGAGAAAAATGCTTACCTTATGGGGTGGTGCATGGATTAACTGAGATAATCTGTGTAAGCACTTCGCTGTGGCCTACAGTAAGTGCTTGGTAAATGTTAGTACTTCTATTTTTGGCTTGGGGAGGGGCTCAGAGTCTCTGAAGACTGTTGGTTTTGAGTCCTCCTCTGATCCCCTTCCCAGTGGGACTTCTGAAGGGTCCCACCTCTGACCTTTCACTGTCTAAAGCTAGGCTGGACCCAAACAAATATAGCTCCCTCCGCCTGGCTCAAAGGCCTCCTTTGTCCTCTGGGGACAATGTTCCTAACATGT... | TAGTTTCCTCTGAGAAAAATGCTTACCTTATGGGGTGGTGCATGGATTAACTGAGATAATCTGTGTAAGCACTTCGCTGTGGCCTACAGTAAGTGCTTGGTAAATGTTAGTACTTCTATTTTTGGCTTGGGGAGGGGCTCAGAGTCTCTGAAGACTGTTGGTTTTGAGTCCTCCTCTGATCCCCTTCCCAGTGGGACTTCTGAAGGGTCCCACCTCTGACCTTTCACTGTCTAAAGCTAGGCTGGACCCAAACAAATATAGCTCCCTCCGCCTGGCTCAAAGGCCTCCTTTGTCCTCTGGGGACAATGTTCCTAACATGT... |
Task1_train_9690 | A variant affecting Chromosome 5, within the gene TCOF1 (treacle ribosome biogenesis factor 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | ACCAGCCTGACCGACATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCATGCATGGTGGCATGCACCTGTAGTCCCAGTTACTCGGGAGGCTGAGTCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCACTGAGCTGAGACTGAGCCACTGCACTCCATCCTGGGTGACAAGGCGAGACTCCATCTCAAAAAAAAAAAAAACGTCCATAGTGGCTGAAGTGTGAAGTACAAGGGCCAGATGCCCCTGGGGAGATGGAGGCAGGGGCTGGCTGGAGTGGTCTGGTGGGCAGTTTGATCTTCCTTGGAAG... | ACCAGCCTGACCGACATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCATGCATGGTGGCATGCACCTGTAGTCCCAGTTACTCGGGAGGCTGAGTCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCACTGAGCTGAGACTGAGCCACTGCACTCCATCCTGGGTGACAAGGCGAGACTCCATCTCAAAAAAAAAAAAAACGTCCATAGTGGCTGAAGTGTGAAGTACAAGGGCCAGATGCCCCTGGGGAGATGGAGGCAGGGGCTGGCTGGAGTGGTCTGGTGGGCAGTTTGATCTTCCTTGGAAG... |
Task1_train_9691 | A change on Chromosome 5 affects gene NDST1 (N-deacetylase and N-sulfotransferase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Intellectual disability, autosomal recessive 46 | TTGGTCAGGCTCTTAGATAATCTCTTGTATCTCTTCTAACTCCAGCAGGCTCTGAGTGGGAAAAGGGATTGATGGGAGGGTTTGGGGGCCAGTTTTTGGGAAAGTCTGCTCCTACGGGCTTTTAAAAAGTGGAAGCAGAAGCTGGAATTGGTGACAGTCTCATAGTTCAGACCAGGAGTCCACAAACCGTGACTCATGGGCCAAAACCAGCCTGAGACCTGTTTTTGTAAAGAACGTTTTATTGGCAGACAGCCACGCTCATTCTTGTATCTACTGTCTATAGCTGCTTTCATGCTATGACGGCAGAGTCGAGTAGTTGC... | TTGGTCAGGCTCTTAGATAATCTCTTGTATCTCTTCTAACTCCAGCAGGCTCTGAGTGGGAAAAGGGATTGATGGGAGGGTTTGGGGGCCAGTTTTTGGGAAAGTCTGCTCCTACGGGCTTTTAAAAAGTGGAAGCAGAAGCTGGAATTGGTGACAGTCTCATAGTTCAGACCAGGAGTCCACAAACCGTGACTCATGGGCCAAAACCAGCCTGAGACCTGTTTTTGTAAAGAACGTTTTATTGGCAGACAGCCACGCTCATTCTTGTATCTACTGTCTATAGCTGCTTTCATGCTATGACGGCAGAGTCGAGTAGTTGC... |
Task1_train_9692 | A genetic alteration is present in NDST1 (N-deacetylase and N-sulfotransferase 1) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Intellectual disability, autosomal recessive 46 | CTTCCCACCAGAGCCTGCAGAGGTTACCTTTGTAGAGGTTCCCAGCAGAGGGTCCTAGTAGAGGTTCCCTTAAGGGTGTGGGGGCCAGAGCAGAGATGGTTTTACTCTCCACCTTTTCAGTTGGCATCTTTCTCTATTTGCCTTTTTTCTTTCTTTTTAAAAAATGTTTCATGTCAGGTAGGTAATGTGCTGAGATCATAACAAGGTTCGAGGTGGGTACACCTCACACGTGTGTGAACACCCAATCATCACGTGCATGGACTGCAAAGTTTGCCTTTTTAAACCTTGTCCATGTATTACCATTATTTATTATTTTTATG... | CTTCCCACCAGAGCCTGCAGAGGTTACCTTTGTAGAGGTTCCCAGCAGAGGGTCCTAGTAGAGGTTCCCTTAAGGGTGTGGGGGCCAGAGCAGAGATGGTTTTACTCTCCACCTTTTCAGTTGGCATCTTTCTCTATTTGCCTTTTTTCTTTCTTTTTAAAAAATGTTTCATGTCAGGTAGGTAATGTGCTGAGATCATAACAAGGTTCGAGGTGGGTACACCTCACACGTGTGTGAACACCCAATCATCACGTGCATGGACTGCAAAGTTTGCCTTTTTAAACCTTGTCCATGTATTACCATTATTTATTATTTTTATG... |
Task1_train_9693 | The gene GM2A (ganglioside GM2 activator) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Tay-Sachs disease, variant AB | TCATGCCTGTAATCTCAGCTACTCAGGAGGCTAAGACAGGAGAATCGCTTGAACGCAGGAAGCAGAGTTTGTAGTGAGCCAAAATCACACCACTATACTCCAGCCTAGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAGAAGGTGAGGGAATGGCCACTGAGAGAGATTAAGTAACTCACCCAAGGGCACAATAAAACTAGGAAGTGGCAGAACTAGCATTCCAACCTAGGCCCTCTGACTTTTCCTAGGCAGCGGGGTAGAAGCAGGTTTGATGAGAGAGAGGAGGGCTGAGAGGGTGCTGTGTGGCCAGTGG... | TCATGCCTGTAATCTCAGCTACTCAGGAGGCTAAGACAGGAGAATCGCTTGAACGCAGGAAGCAGAGTTTGTAGTGAGCCAAAATCACACCACTATACTCCAGCCTAGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAGAAGGTGAGGGAATGGCCACTGAGAGAGATTAAGTAACTCACCCAAGGGCACAATAAAACTAGGAAGTGGCAGAACTAGCATTCCAACCTAGGCCCTCTGACTTTTCCTAGGCAGCGGGGTAGAAGCAGGTTTGATGAGAGAGAGGAGGGCTGAGAGGGTGCTGTGTGGCCAGTGG... |
Task1_train_9694 | This mutation occurs in GM2A (ganglioside GM2 activator) on Chromosome 5. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Tay-Sachs disease, variant AB | GAGTCCGTGGCCTGGGAACCAGCCTGAGCCCAGCAGCCTCTTAGGACATAAGTGCCCATCCAGGATTTAATCTCTTAGAAACAGAGCCCCAAATAAAGTGAGCCTAGAGGCTGGGATTCCTAGAATGCTAGAATGTCAGAGCTGAAAGGGATCCTAAAAATGTGATTTCCTGCCATAACACGCACAAGGAATCAGATATTTGAGAAAGCTAATTTCCTGGTGCTCTTTCCTGAGAGTTTTCCCTTGATACCTTTGGTGGGTGATGGACATGGTTCTAAAGCCAACTCATTTGGCACTAGAGGCAACTAACACATGGTGAC... | GAGTCCGTGGCCTGGGAACCAGCCTGAGCCCAGCAGCCTCTTAGGACATAAGTGCCCATCCAGGATTTAATCTCTTAGAAACAGAGCCCCAAATAAAGTGAGCCTAGAGGCTGGGATTCCTAGAATGCTAGAATGTCAGAGCTGAAAGGGATCCTAAAAATGTGATTTCCTGCCATAACACGCACAAGGAATCAGATATTTGAGAAAGCTAATTTCCTGGTGCTCTTTCCTGAGAGTTTTCCCTTGATACCTTTGGTGGGTGATGGACATGGTTCTAAAGCCAACTCATTTGGCACTAGAGGCAACTAACACATGGTGAC... |
Task1_train_9695 | This alteration occurs within gene LOC126807556, SPARC (MED14-independent group 3 enhancer GRCh37_chr5:151042798-151043997| secreted protein acidic and cysteine rich) located on Chromosome 5. Is it associated with a disease or is it a benign variant? | Pathogenic; Osteogenesis imperfecta type 17 | AATGACCATGATTAATAAAAGGATATAGCTGCTCAGTCTGGTGCTGATAATGGTGGTAGTGATCAAAAGGGTTAAACCACAGGTCATTAAATGAAAACAGCTAACTTAGTGCTTACAGGAACCATACACTCCCTGTGTATAAACATGCCGGTGTGTGTGTACAGGTGTGTGTGTGCAAAAGCATAATGTGTTTGCAAAGGTTTGCATTTGTGTAGTCATGTGTAGACATGTATGCTCATGTGTTTTTGTGTCAGGATAATAAGGTGACTAAGACTAAGACACATGCAAATCACCCAGGAAGGCAGTTTCTAAGTCATTAC... | AATGACCATGATTAATAAAAGGATATAGCTGCTCAGTCTGGTGCTGATAATGGTGGTAGTGATCAAAAGGGTTAAACCACAGGTCATTAAATGAAAACAGCTAACTTAGTGCTTACAGGAACCATACACTCCCTGTGTATAAACATGCCGGTGTGTGTGTACAGGTGTGTGTGTGCAAAAGCATAATGTGTTTGCAAAGGTTTGCATTTGTGTAGTCATGTGTAGACATGTATGCTCATGTGTTTTTGTGTCAGGATAATAAGGTGACTAAGACTAAGACACATGCAAATCACCCAGGAAGGCAGTTTCTAAGTCATTAC... |
Task1_train_9696 | An alteration has been detected in SPARC (secreted protein acidic and cysteine rich) on Chromosome 5. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Osteogenesis imperfecta type 17 | TGAGTATGTGAGTAGGGCAGCCCTTCCTTTCCCCTCTGTGTGATGCTCTGCTTCCACAACCCAAGGACGAAGAAAAAACCACTCTGGGAAGGTGCAGGTGTAGCTTGCTCCATCTGAGGCTGAGCAGGGGCTCTCACTTCATCACCACAAGAGAAGTTCAGAAGGTAGTGACAGGTTATGAACAGAGTATAAGTCCATGAGGGCAAGGACCATGCCAGCTCTGACTGCTGTTCAATCCCCTGCCTAGAATAGTGCAGGGCACAAAATGCACACTCCATAAGCATTTGCTAACTGGCCAGCTGCCTGCCTGTTCGGCAGTG... | TGAGTATGTGAGTAGGGCAGCCCTTCCTTTCCCCTCTGTGTGATGCTCTGCTTCCACAACCCAAGGACGAAGAAAAAACCACTCTGGGAAGGTGCAGGTGTAGCTTGCTCCATCTGAGGCTGAGCAGGGGCTCTCACTTCATCACCACAAGAGAAGTTCAGAAGGTAGTGACAGGTTATGAACAGAGTATAAGTCCATGAGGGCAAGGACCATGCCAGCTCTGACTGCTGTTCAATCCCCTGCCTAGAATAGTGCAGGGCACAAAATGCACACTCCATAAGCATTTGCTAACTGGCCAGCTGCCTGCCTGTTCGGCAGTG... |
Task1_train_9697 | The gene GLRA1 (glycine receptor alpha 1) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hyperekplexia 1 | TTTCTTTCTTTCTTTCTGTTTTTTTTTTTTTTTTTGAGACAAAGTCACTATGTTGCCCACATTGGTCTGGAACTCCTGGGCTAAAGCAATCCTCTCACCTCAGTCTTCCTAGTAGTTGGGATTATAGGCACAAGCCATCATGCCAGTTGCTTAAATAGACTTTTTTTTTTTTTTTTAAAGCATCAGAGGCTAGGTATTAAATGGACAATATAGAGTAACTAAAACTAGGGGTCATTTAAGAAGTTCTATCTGGCTTGCTGAACCCAAGACAATTTCCTCCTTCAATGTAGTTTAGAAGGATGGTGATATCTTAATTCCCA... | TTTCTTTCTTTCTTTCTGTTTTTTTTTTTTTTTTTGAGACAAAGTCACTATGTTGCCCACATTGGTCTGGAACTCCTGGGCTAAAGCAATCCTCTCACCTCAGTCTTCCTAGTAGTTGGGATTATAGGCACAAGCCATCATGCCAGTTGCTTAAATAGACTTTTTTTTTTTTTTTTAAAGCATCAGAGGCTAGGTATTAAATGGACAATATAGAGTAACTAAAACTAGGGGTCATTTAAGAAGTTCTATCTGGCTTGCTGAACCCAAGACAATTTCCTCCTTCAATGTAGTTTAGAAGGATGGTGATATCTTAATTCCCA... |
Task1_train_9698 | This sequence variant lies in GLRA1 (glycine receptor alpha 1) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary hyperekplexia | TTTCTTTCTTTCTTTCTGTTTTTTTTTTTTTTTTTGAGACAAAGTCACTATGTTGCCCACATTGGTCTGGAACTCCTGGGCTAAAGCAATCCTCTCACCTCAGTCTTCCTAGTAGTTGGGATTATAGGCACAAGCCATCATGCCAGTTGCTTAAATAGACTTTTTTTTTTTTTTTTAAAGCATCAGAGGCTAGGTATTAAATGGACAATATAGAGTAACTAAAACTAGGGGTCATTTAAGAAGTTCTATCTGGCTTGCTGAACCCAAGACAATTTCCTCCTTCAATGTAGTTTAGAAGGATGGTGATATCTTAATTCCCA... | TTTCTTTCTTTCTTTCTGTTTTTTTTTTTTTTTTTGAGACAAAGTCACTATGTTGCCCACATTGGTCTGGAACTCCTGGGCTAAAGCAATCCTCTCACCTCAGTCTTCCTAGTAGTTGGGATTATAGGCACAAGCCATCATGCCAGTTGCTTAAATAGACTTTTTTTTTTTTTTTTAAAGCATCAGAGGCTAGGTATTAAATGGACAATATAGAGTAACTAAAACTAGGGGTCATTTAAGAAGTTCTATCTGGCTTGCTGAACCCAAGACAATTTCCTCCTTCAATGTAGTTTAGAAGGATGGTGATATCTTAATTCCCA... |
Task1_train_9699 | A mutation found in GLRA1 (glycine receptor alpha 1) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hyperekplexia 1 | TTTCTTTCTTTCTTTCTGTTTTTTTTTTTTTTTTTGAGACAAAGTCACTATGTTGCCCACATTGGTCTGGAACTCCTGGGCTAAAGCAATCCTCTCACCTCAGTCTTCCTAGTAGTTGGGATTATAGGCACAAGCCATCATGCCAGTTGCTTAAATAGACTTTTTTTTTTTTTTTTAAAGCATCAGAGGCTAGGTATTAAATGGACAATATAGAGTAACTAAAACTAGGGGTCATTTAAGAAGTTCTATCTGGCTTGCTGAACCCAAGACAATTTCCTCCTTCAATGTAGTTTAGAAGGATGGTGATATCTTAATTCCCA... | TTTCTTTCTTTCTTTCTGTTTTTTTTTTTTTTTTTGAGACAAAGTCACTATGTTGCCCACATTGGTCTGGAACTCCTGGGCTAAAGCAATCCTCTCACCTCAGTCTTCCTAGTAGTTGGGATTATAGGCACAAGCCATCATGCCAGTTGCTTAAATAGACTTTTTTTTTTTTTTTTAAAGCATCAGAGGCTAGGTATTAAATGGACAATATAGAGTAACTAAAACTAGGGGTCATTTAAGAAGTTCTATCTGGCTTGCTGAACCCAAGACAATTTCCTCCTTCAATGTAGTTTAGAAGGATGGTGATATCTTAATTCCCA... |
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