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_3400 | A variant has been detected on Chromosome 2 in CYP1B1 (cytochrome P450 family 1 subfamily B member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Primary congenital glaucoma | CGTCAATAAAACGTATATACAAAAACAGATCGTGTAATTTGCCAAGCCCTGTCATACGTCTTTTCACTAAAAAGGAAAAAAAAAGTATCAGCATATTGAATTGAAAGTGACCTCCAAATTGTTTTATTTCTTTTTGCCGCCTAATTGGAGTACTCGGAGAACTATTGTGGTTCTAATGAAAAACAAAGGCCGTTTCAAAAGTTAAAATGCCTATCTGCGGATGCACAAAAACCTATGGAACCTATTCCGGGATTTCCTTTTCCCTGATCTCTGGTTGACTTTTCTTTATTCGATTTCTGCCTCTCCCTCACCCACCATGG... | CGTCAATAAAACGTATATACAAAAACAGATCGTGTAATTTGCCAAGCCCTGTCATACGTCTTTTCACTAAAAAGGAAAAAAAAAGTATCAGCATATTGAATTGAAAGTGACCTCCAAATTGTTTTATTTCTTTTTGCCGCCTAATTGGAGTACTCGGAGAACTATTGTGGTTCTAATGAAAAACAAAGGCCGTTTCAAAAGTTAAAATGCCTATCTGCGGATGCACAAAAACCTATGGAACCTATTCCGGGATTTCCTTTTCCCTGATCTCTGGTTGACTTTTCTTTATTCGATTTCTGCCTCTCCCTCACCCACCATGG... |
Task1_train_3401 | This is a variant in CYP1B1 (cytochrome P450 family 1 subfamily B member 1), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Congenital glaucoma | TGGTTCTAATGAAAAACAAAGGCCGTTTCAAAAGTTAAAATGCCTATCTGCGGATGCACAAAAACCTATGGAACCTATTCCGGGATTTCCTTTTCCCTGATCTCTGGTTGACTTTTCTTTATTCGATTTCTGCCTCTCCCTCACCCACCATGGGTGTTTCTATGATTTTAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCA... | TGGTTCTAATGAAAAACAAAGGCCGTTTCAAAAGTTAAAATGCCTATCTGCGGATGCACAAAAACCTATGGAACCTATTCCGGGATTTCCTTTTCCCTGATCTCTGGTTGACTTTTCTTTATTCGATTTCTGCCTCTCCCTCACCCACCATGGGTGTTTCTATGATTTTAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCA... |
Task1_train_3402 | Here is a mutation in CYP1B1 (cytochrome P450 family 1 subfamily B member 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Anterior segment dysgenesis 6 | TAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGC... | TAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGC... |
Task1_train_3403 | The gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Glaucoma 3A | TAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGC... | TAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGC... |
Task1_train_3404 | Located on Chromosome 2, this mutation impacts CYP1B1 (cytochrome P450 family 1 subfamily B member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Glaucoma 3, primary infantile, B | TAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGC... | TAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGC... |
Task1_train_3405 | A variant on Chromosome 2 in gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Primary congenital glaucoma | TAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGC... | TAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGC... |
Task1_train_3406 | Here is a variant affecting CYP1B1 (cytochrome P450 family 1 subfamily B member 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Congenital glaucoma | TAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGC... | TAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGC... |
Task1_train_3407 | Given this context: Chromosome 2, gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Anterior segment dysgenesis 6 | TAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGC... | TAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGC... |
Task1_train_3408 | This sequence change occurs on Chromosome 2, altering CYP1B1 (cytochrome P450 family 1 subfamily B member 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Glaucoma 3A | TAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGC... | TAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGC... |
Task1_train_3409 | Here is a variant affecting CYP1B1 (cytochrome P450 family 1 subfamily B member 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Anterior segment dysgenesis 6 | TAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGC... | TAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGC... |
Task1_train_3410 | Chromosome 2 houses a mutation in gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Glaucoma 3A | TAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGC... | TAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGC... |
Task1_train_3411 | The gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Anterior segment dysgenesis 6 | AATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGCT... | AATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGCT... |
Task1_train_3412 | A genetic alteration is present in CYP1B1 (cytochrome P450 family 1 subfamily B member 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Glaucoma 3A | AATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGCT... | AATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAACCAGGATTTCTGGTCTCTTCGGCAATCAAAATTTGCCTTGCGAAACATTTGCCCCTAGGGATAGTGTTTCCACAGTAAATACTACAGGCCGCCCAGTTAAATATGGATTTCAGATCAACAAGGGCT... |
Task1_train_3413 | A variant affecting Chromosome 2, within the gene GALM (galactose mutarotase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; GALM-related disorder | TTCACTTCCTGAGTCTGTAAGGAAGAAATGACACCAAGTCCTATTTTCCTTTGGAGCTTTTCCTCTGGCCATATCAATAGCATTTACTATGCTACAAGTGACCCAATACCACATCCCATATTTTCTCAAAGCTCCCATGGCACAGGTGAGCTCTGTAGAATTTATCCCAGTCCCCCACCTGCCATTACCCCTATTCCCCCTGCTTGGCACCCGCTCTCTCCCTCTCTGCCTGTTCTTTAAGGCCCATTTTCTGTTAGAAGCCTTAACTCTTCCTAGTGAAGTCACCTCGGCTGTCACTGAACTTCCAGAGCCTTTGTGCT... | TTCACTTCCTGAGTCTGTAAGGAAGAAATGACACCAAGTCCTATTTTCCTTTGGAGCTTTTCCTCTGGCCATATCAATAGCATTTACTATGCTACAAGTGACCCAATACCACATCCCATATTTTCTCAAAGCTCCCATGGCACAGGTGAGCTCTGTAGAATTTATCCCAGTCCCCCACCTGCCATTACCCCTATTCCCCCTGCTTGGCACCCGCTCTCTCCCTCTCTGCCTGTTCTTTAAGGCCCATTTTCTGTTAGAAGCCTTAACTCTTCCTAGTGAAGTCACCTCGGCTGTCACTGAACTTCCAGAGCCTTTGTGCT... |
Task1_train_3414 | The variant affects gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Noonan syndrome 4 | GTAGCTGGGACTACAGGTGCACACCTCTCCTCTCAGCTAATTTTTTTATTTTTTAGGAGAGATGGGGTCTCGCTGTGTTGCCCAGGCTGGTCTCAAAGTCCTGGCCTCAAGTGATTTTCCCACCTTGGCCTTCCAAAGTGTTGAAATTACAGGTGTGAGACACCATGCCCAGCCCAAATATACTTTAGATGGCCCAAAGACAACAAAGACTACTGGGTAACTACAGACGTATGTATACTACAGGAATAAACAAATAGGATTCTGGACCAAATTTCAAAATAATATACTACCAAAGAATTATTTTAAGTATATTTTTAGTT... | GTAGCTGGGACTACAGGTGCACACCTCTCCTCTCAGCTAATTTTTTTATTTTTTAGGAGAGATGGGGTCTCGCTGTGTTGCCCAGGCTGGTCTCAAAGTCCTGGCCTCAAGTGATTTTCCCACCTTGGCCTTCCAAAGTGTTGAAATTACAGGTGTGAGACACCATGCCCAGCCCAAATATACTTTAGATGGCCCAAAGACAACAAAGACTACTGGGTAACTACAGACGTATGTATACTACAGGAATAAACAAATAGGATTCTGGACCAAATTTCAAAATAATATACTACCAAAGAATTATTTTAAGTATATTTTTAGTT... |
Task1_train_3415 | This genomic variant is located on Chromosome 2, within the SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Noonan syndrome | ACATACATACATACGTATGAGCTTAATTTATAAATTAGGCACAGTAAGATTAAAAATAGCTAAAAGTTACATGAATGTGGTCTTTCTCTCCCAAAATATCTCATGTTTTTGGACCAAAGCTGACCATGGATAACTGAAACCGTGGAAAGTGAAACCGTGGAGATGGGAGCACTACTGTAATTCCTCCTCTGGTTATTTGTCTCAAGAAGATATTTTCAAATACAGAAAAATAGTATAAATGAAAATGTGAATCAGAAAATCATGTGGAAAGCAAAAAAGCTGGAAACAATGTGTCCAATCACAGGGTAATGGTTAAAACA... | ACATACATACATACGTATGAGCTTAATTTATAAATTAGGCACAGTAAGATTAAAAATAGCTAAAAGTTACATGAATGTGGTCTTTCTCTCCCAAAATATCTCATGTTTTTGGACCAAAGCTGACCATGGATAACTGAAACCGTGGAAAGTGAAACCGTGGAGATGGGAGCACTACTGTAATTCCTCCTCTGGTTATTTGTCTCAAGAAGATATTTTCAAATACAGAAAAATAGTATAAATGAAAATGTGAATCAGAAAATCATGTGGAAAGCAAAAAAGCTGGAAACAATGTGTCCAATCACAGGGTAATGGTTAAAACA... |
Task1_train_3416 | Here is a mutation in SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Fibromatosis, gingival, 1 | GGTCCTAGGAAATAAAATAGATTCTAACACTGTAATTTTCAGAAATACGATTTTCAGTGGGAGATCTATAAATTTATCTCATTTTCTCATTTAGTTATTAAAAAGTGAATAATTTAAGATTCTAAGTAGTCTCCATTTAAAATCAGAAGGACATTTTTGAGATAATTACATCAATGTAGTATGATTAAAAAAGACTATAATGGCTGTAAGTTCACAATAAAGCAGTAGCTAACATTTATTGAGCCCTTACTTTGTGCTAGGTAATGTACATATATTGACTTGCAAACCTCAAAACAGCCCCAGGAGTAGGTACTATCAGT... | GGTCCTAGGAAATAAAATAGATTCTAACACTGTAATTTTCAGAAATACGATTTTCAGTGGGAGATCTATAAATTTATCTCATTTTCTCATTTAGTTATTAAAAAGTGAATAATTTAAGATTCTAAGTAGTCTCCATTTAAAATCAGAAGGACATTTTTGAGATAATTACATCAATGTAGTATGATTAAAAAAGACTATAATGGCTGTAAGTTCACAATAAAGCAGTAGCTAACATTTATTGAGCCCTTACTTTGTGCTAGGTAATGTACATATATTGACTTGCAAACCTCAAAACAGCCCCAGGAGTAGGTACTATCAGT... |
Task1_train_3417 | Mutation context: Chromosome 2, Gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Noonan syndrome 4 | GGTCCTAGGAAATAAAATAGATTCTAACACTGTAATTTTCAGAAATACGATTTTCAGTGGGAGATCTATAAATTTATCTCATTTTCTCATTTAGTTATTAAAAAGTGAATAATTTAAGATTCTAAGTAGTCTCCATTTAAAATCAGAAGGACATTTTTGAGATAATTACATCAATGTAGTATGATTAAAAAAGACTATAATGGCTGTAAGTTCACAATAAAGCAGTAGCTAACATTTATTGAGCCCTTACTTTGTGCTAGGTAATGTACATATATTGACTTGCAAACCTCAAAACAGCCCCAGGAGTAGGTACTATCAGT... | GGTCCTAGGAAATAAAATAGATTCTAACACTGTAATTTTCAGAAATACGATTTTCAGTGGGAGATCTATAAATTTATCTCATTTTCTCATTTAGTTATTAAAAAGTGAATAATTTAAGATTCTAAGTAGTCTCCATTTAAAATCAGAAGGACATTTTTGAGATAATTACATCAATGTAGTATGATTAAAAAAGACTATAATGGCTGTAAGTTCACAATAAAGCAGTAGCTAACATTTATTGAGCCCTTACTTTGTGCTAGGTAATGTACATATATTGACTTGCAAACCTCAAAACAGCCCCAGGAGTAGGTACTATCAGT... |
Task1_train_3418 | This variant lies on Chromosome 2 and affects the gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; RASopathy | GGTCCTAGGAAATAAAATAGATTCTAACACTGTAATTTTCAGAAATACGATTTTCAGTGGGAGATCTATAAATTTATCTCATTTTCTCATTTAGTTATTAAAAAGTGAATAATTTAAGATTCTAAGTAGTCTCCATTTAAAATCAGAAGGACATTTTTGAGATAATTACATCAATGTAGTATGATTAAAAAAGACTATAATGGCTGTAAGTTCACAATAAAGCAGTAGCTAACATTTATTGAGCCCTTACTTTGTGCTAGGTAATGTACATATATTGACTTGCAAACCTCAAAACAGCCCCAGGAGTAGGTACTATCAGT... | GGTCCTAGGAAATAAAATAGATTCTAACACTGTAATTTTCAGAAATACGATTTTCAGTGGGAGATCTATAAATTTATCTCATTTTCTCATTTAGTTATTAAAAAGTGAATAATTTAAGATTCTAAGTAGTCTCCATTTAAAATCAGAAGGACATTTTTGAGATAATTACATCAATGTAGTATGATTAAAAAAGACTATAATGGCTGTAAGTTCACAATAAAGCAGTAGCTAACATTTATTGAGCCCTTACTTTGTGCTAGGTAATGTACATATATTGACTTGCAAACCTCAAAACAGCCCCAGGAGTAGGTACTATCAGT... |
Task1_train_3419 | The variant affects gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Noonan syndrome 4 | GGTCCTAGGAAATAAAATAGATTCTAACACTGTAATTTTCAGAAATACGATTTTCAGTGGGAGATCTATAAATTTATCTCATTTTCTCATTTAGTTATTAAAAAGTGAATAATTTAAGATTCTAAGTAGTCTCCATTTAAAATCAGAAGGACATTTTTGAGATAATTACATCAATGTAGTATGATTAAAAAAGACTATAATGGCTGTAAGTTCACAATAAAGCAGTAGCTAACATTTATTGAGCCCTTACTTTGTGCTAGGTAATGTACATATATTGACTTGCAAACCTCAAAACAGCCCCAGGAGTAGGTACTATCAGT... | GGTCCTAGGAAATAAAATAGATTCTAACACTGTAATTTTCAGAAATACGATTTTCAGTGGGAGATCTATAAATTTATCTCATTTTCTCATTTAGTTATTAAAAAGTGAATAATTTAAGATTCTAAGTAGTCTCCATTTAAAATCAGAAGGACATTTTTGAGATAATTACATCAATGTAGTATGATTAAAAAAGACTATAATGGCTGTAAGTTCACAATAAAGCAGTAGCTAACATTTATTGAGCCCTTACTTTGTGCTAGGTAATGTACATATATTGACTTGCAAACCTCAAAACAGCCCCAGGAGTAGGTACTATCAGT... |
Task1_train_3420 | This gene mutation involves SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Noonan syndrome and Noonan-related syndrome | CTTCAGTAACAGACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATC... | CTTCAGTAACAGACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATC... |
Task1_train_3421 | A mutation on Chromosome 2 affecting SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Noonan syndrome and Noonan-related syndrome | CTTCAGTAACAGACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATC... | CTTCAGTAACAGACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATC... |
Task1_train_3422 | A variant has been detected on Chromosome 2 in SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Noonan syndrome | TTCAGTAACAGACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCT... | TTCAGTAACAGACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCT... |
Task1_train_3423 | Here’s a variant in SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Noonan syndrome | TTCAGTAACAGACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCT... | TTCAGTAACAGACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCT... |
Task1_train_3424 | The variant affects gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Noonan syndrome | TCAGTAACAGACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCTT... | TCAGTAACAGACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCTT... |
Task1_train_3425 | Assess the clinical impact of this variant on gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Noonan syndrome 4 | AACAGACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCTTGAAAT... | AACAGACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCTTGAAAT... |
Task1_train_3426 | A mutation in SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; RASopathy | AACAGACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCTTGAAAT... | AACAGACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCTTGAAAT... |
Task1_train_3427 | A mutation in SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; SOS1-related disorder | AACAGACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCTTGAAAT... | AACAGACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCTTGAAAT... |
Task1_train_3428 | A mutation in SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cardiovascular phenotype | AACAGACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCTTGAAAT... | AACAGACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCTTGAAAT... |
Task1_train_3429 | A mutation on Chromosome 2 affecting SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; RASopathy | ACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCTTGAAATTTAAG... | ACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCTTGAAATTTAAG... |
Task1_train_3430 | A variant affecting Chromosome 2, within the gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Noonan syndrome 4 | ACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCTTGAAATTTAAG... | ACCTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCTTGAAATTTAAG... |
Task1_train_3431 | Here is a variant affecting SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Noonan syndrome | CTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCTTGAAATTTAAGTG... | CTTACAGAATAGCCCAAATAAGCTAACAGTTAACACTAATGTGTGTGTACTGTAAACCACAACTCACGAAAGCTGCTTGTAGACTCCAGTTTCACCAGTAATATATTTATGACATAAATTAAAATATTCAGTTAAGCTTCAAAAGAAGACAGAAAAGAAAAATATCAAAAAACTTAGCCACAACACTGGCCTTTTATTTCTCAAAAAATTATTGGAAGGAATTTTTTAAAAACATTTTTTTTAAGTAAAATAATCTCATCAACTTAAATTTTCAATACACTTAACTTTGGCAAAGTTCTATAAATCTTGAAATTTAAGTG... |
Task1_train_3432 | Given this context: Chromosome 2, gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Noonan syndrome | TTTTATATTCATTATAAGTAAAAGCACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAAT... | TTTTATATTCATTATAAGTAAAAGCACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAAT... |
Task1_train_3433 | Gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; RASopathy | TTTTATATTCATTATAAGTAAAAGCACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAAT... | TTTTATATTCATTATAAGTAAAAGCACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAAT... |
Task1_train_3434 | Here is a variant affecting SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Noonan syndrome 4 | TTTTATATTCATTATAAGTAAAAGCACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAAT... | TTTTATATTCATTATAAGTAAAAGCACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAAT... |
Task1_train_3435 | This variant affects the gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Noonan syndrome 4 | AGCACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTC... | AGCACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTC... |
Task1_train_3436 | A genomic change on Chromosome 2 affects SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Fibromatosis, gingival, 1 | AGCACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTC... | AGCACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTC... |
Task1_train_3437 | Gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not specified | AGCACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTC... | AGCACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTC... |
Task1_train_3438 | Gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cardiovascular phenotype | AGCACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTC... | AGCACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTC... |
Task1_train_3439 | A mutation in SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; RASopathy | AGCACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTC... | AGCACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTC... |
Task1_train_3440 | Gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; RASopathy | ACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTCTAT... | ACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTCTAT... |
Task1_train_3441 | A mutation in SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Noonan syndrome 4 | ACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTCTAT... | ACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTCTAT... |
Task1_train_3442 | An alteration has been detected in SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Noonan syndrome and Noonan-related syndrome | ACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTCTAT... | ACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTCTAT... |
Task1_train_3443 | This variant affects gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Noonan syndrome | ACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTCTAT... | ACTCAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTCTAT... |
Task1_train_3444 | Here is a genetic alteration in SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; RASopathy | CAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTCTATCAC... | CAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTCTATCAC... |
Task1_train_3445 | A variant found in Chromosome 2 affects SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Noonan syndrome 4 | CAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTCTATCAC... | CAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTCTATCAC... |
Task1_train_3446 | Given a variant located on Chromosome 2 and affecting SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Noonan syndrome | CAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTCTATCAC... | CAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTCTATCAC... |
Task1_train_3447 | Gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; RASopathy | CAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTCTATCAC... | CAAAATATTACTCTATACCAAAGCTAAAAATTGATATAGAAAAGAAGTATCAGACAGAAATAACTAATAAAACATCATTACAAAAGTACCATGTCCACGGACTTTACCTAACATTGTACACATTAAGGAAAGAAGACTTTCAGGACTACAAAACAAGTATCAGCTTGTTCCAGTTAATTTTGCTTTAAAGTGTCCTCATTTAAAAAAATAAATAAAAGGGACAGTTCCCCAGACAATAGTTGTAACCATTCTTCAGCTGCTTATTAATAATCATAAATTAACTTTGTGAAATATAGCAATTTAGAGAAAACTTCTATCAC... |
Task1_train_3448 | A genetic alteration is present in SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; RASopathy | TATTAATGTAAGTTATAATTTTAGAAATTTTAATTGCCTACACTTGAAGGAGTAAAAATTTCTTTTATATTATTAAGATGATTGGGTTTTATAGCCTTCTGAACTTTCATCAAAGCTTCTTGGGTTCATTTGGAGGGGAAGGTTGTTTTGTTTTGTATTTTTGAGACAGGGGCTTGCTCTGTTTCTCAGGCTGGAGTACAGAGGCGTGGTCATGGCTCACTGCAGCCTCGACCTCCTGAGCTCAAGTGTTCCTCCTGCCCAGCCTTTTGAGTAGCTGGAACCACAGGTGTGCACCACCATTCCTGGCTAATTTTATTTCT... | TATTAATGTAAGTTATAATTTTAGAAATTTTAATTGCCTACACTTGAAGGAGTAAAAATTTCTTTTATATTATTAAGATGATTGGGTTTTATAGCCTTCTGAACTTTCATCAAAGCTTCTTGGGTTCATTTGGAGGGGAAGGTTGTTTTGTTTTGTATTTTTGAGACAGGGGCTTGCTCTGTTTCTCAGGCTGGAGTACAGAGGCGTGGTCATGGCTCACTGCAGCCTCGACCTCCTGAGCTCAAGTGTTCCTCCTGCCCAGCCTTTTGAGTAGCTGGAACCACAGGTGTGCACCACCATTCCTGGCTAATTTTATTTCT... |
Task1_train_3449 | This genomic variant is located on Chromosome 2, within the SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Noonan syndrome | TATTAATGTAAGTTATAATTTTAGAAATTTTAATTGCCTACACTTGAAGGAGTAAAAATTTCTTTTATATTATTAAGATGATTGGGTTTTATAGCCTTCTGAACTTTCATCAAAGCTTCTTGGGTTCATTTGGAGGGGAAGGTTGTTTTGTTTTGTATTTTTGAGACAGGGGCTTGCTCTGTTTCTCAGGCTGGAGTACAGAGGCGTGGTCATGGCTCACTGCAGCCTCGACCTCCTGAGCTCAAGTGTTCCTCCTGCCCAGCCTTTTGAGTAGCTGGAACCACAGGTGTGCACCACCATTCCTGGCTAATTTTATTTCT... | TATTAATGTAAGTTATAATTTTAGAAATTTTAATTGCCTACACTTGAAGGAGTAAAAATTTCTTTTATATTATTAAGATGATTGGGTTTTATAGCCTTCTGAACTTTCATCAAAGCTTCTTGGGTTCATTTGGAGGGGAAGGTTGTTTTGTTTTGTATTTTTGAGACAGGGGCTTGCTCTGTTTCTCAGGCTGGAGTACAGAGGCGTGGTCATGGCTCACTGCAGCCTCGACCTCCTGAGCTCAAGTGTTCCTCCTGCCCAGCCTTTTGAGTAGCTGGAACCACAGGTGTGCACCACCATTCCTGGCTAATTTTATTTCT... |
Task1_train_3450 | An alteration has been detected in SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Noonan syndrome 4 | TATTAATGTAAGTTATAATTTTAGAAATTTTAATTGCCTACACTTGAAGGAGTAAAAATTTCTTTTATATTATTAAGATGATTGGGTTTTATAGCCTTCTGAACTTTCATCAAAGCTTCTTGGGTTCATTTGGAGGGGAAGGTTGTTTTGTTTTGTATTTTTGAGACAGGGGCTTGCTCTGTTTCTCAGGCTGGAGTACAGAGGCGTGGTCATGGCTCACTGCAGCCTCGACCTCCTGAGCTCAAGTGTTCCTCCTGCCCAGCCTTTTGAGTAGCTGGAACCACAGGTGTGCACCACCATTCCTGGCTAATTTTATTTCT... | TATTAATGTAAGTTATAATTTTAGAAATTTTAATTGCCTACACTTGAAGGAGTAAAAATTTCTTTTATATTATTAAGATGATTGGGTTTTATAGCCTTCTGAACTTTCATCAAAGCTTCTTGGGTTCATTTGGAGGGGAAGGTTGTTTTGTTTTGTATTTTTGAGACAGGGGCTTGCTCTGTTTCTCAGGCTGGAGTACAGAGGCGTGGTCATGGCTCACTGCAGCCTCGACCTCCTGAGCTCAAGTGTTCCTCCTGCCCAGCCTTTTGAGTAGCTGGAACCACAGGTGTGCACCACCATTCCTGGCTAATTTTATTTCT... |
Task1_train_3451 | This mutation is located in gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Noonan syndrome and Noonan-related syndrome | TATTAATGTAAGTTATAATTTTAGAAATTTTAATTGCCTACACTTGAAGGAGTAAAAATTTCTTTTATATTATTAAGATGATTGGGTTTTATAGCCTTCTGAACTTTCATCAAAGCTTCTTGGGTTCATTTGGAGGGGAAGGTTGTTTTGTTTTGTATTTTTGAGACAGGGGCTTGCTCTGTTTCTCAGGCTGGAGTACAGAGGCGTGGTCATGGCTCACTGCAGCCTCGACCTCCTGAGCTCAAGTGTTCCTCCTGCCCAGCCTTTTGAGTAGCTGGAACCACAGGTGTGCACCACCATTCCTGGCTAATTTTATTTCT... | TATTAATGTAAGTTATAATTTTAGAAATTTTAATTGCCTACACTTGAAGGAGTAAAAATTTCTTTTATATTATTAAGATGATTGGGTTTTATAGCCTTCTGAACTTTCATCAAAGCTTCTTGGGTTCATTTGGAGGGGAAGGTTGTTTTGTTTTGTATTTTTGAGACAGGGGCTTGCTCTGTTTCTCAGGCTGGAGTACAGAGGCGTGGTCATGGCTCACTGCAGCCTCGACCTCCTGAGCTCAAGTGTTCCTCCTGCCCAGCCTTTTGAGTAGCTGGAACCACAGGTGTGCACCACCATTCCTGGCTAATTTTATTTCT... |
Task1_train_3452 | This genomic variant is located on Chromosome 2, within the SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Noonan syndrome 4 | GTGATCTGCCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCAT... | GTGATCTGCCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCAT... |
Task1_train_3453 | A variant on Chromosome 2 in gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Noonan syndrome | GTGATCTGCCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCAT... | GTGATCTGCCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCAT... |
Task1_train_3454 | Here is a variant affecting SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Noonan syndrome 1 | GTGATCTGCCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCAT... | GTGATCTGCCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCAT... |
Task1_train_3455 | A genomic change on Chromosome 2 affects SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; RASopathy | GTGATCTGCCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCAT... | GTGATCTGCCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCAT... |
Task1_train_3456 | Here is a variant affecting SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Cardiovascular phenotype | GTGATCTGCCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCAT... | GTGATCTGCCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCAT... |
Task1_train_3457 | Given this variant in gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Noonan syndrome | GTGATCTGCCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCAT... | GTGATCTGCCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCAT... |
Task1_train_3458 | Here’s a variant in SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Noonan syndrome | CCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCATATTCCTTCA... | CCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCATATTCCTTCA... |
Task1_train_3459 | Located on Chromosome 2, this mutation impacts SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Noonan syndrome 4 | CCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCATATTCCTTCA... | CCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCATATTCCTTCA... |
Task1_train_3460 | Consider this mutation in SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Noonan syndrome 4 | CCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCATATTCCTTCA... | CCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCATATTCCTTCA... |
Task1_train_3461 | Chromosome 2 houses a mutation in gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Fibromatosis, gingival, 1 | CCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCATATTCCTTCA... | CCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCATATTCCTTCA... |
Task1_train_3462 | Assess the clinical impact of this variant on gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; RASopathy | CCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCATATTCCTTCA... | CCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCTATCCTTATTACTTTCAATTGGCCTTTCATATTTCTTATCTTGGTCTGTGTGTCACATTCTCAGTGAAGTCCTCAATTCCATCTTCCAATTTACTAATTTTATCCTTGAACTGGGTCCAGCAAATGTTATACTACATGAGTTATTTCAATGCTTGTATATTTAATTCTCGAAATCTCTGTCTTTTGATATCTAGAAATCTGCTCATTTCCTTTCCACCTATTTTTGTTTCACAATATCTTCTTTATAAATGGATCATATTCCTTCA... |
Task1_train_3463 | A variant found in Chromosome 2 affects SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Noonan syndrome | AAAAACTTTTATAATTAGATTTAGTTCCCTTATATATTGTCGAATTTCTGCCATAAATGCTTTTACCAAATCATAGTAAGTTTGTTCTCCTGAGGTGGAAGGCTCTTCGTCAGTTAAAGATAATATATTAATATCTTCTACATCTTGATGAAACATATCCATCAATACCTATACAGTCAGAGATATAAAAAAGTATAATAAAATATGAAGCTTTCGTAGAATTTGATGTGAAATGCTCTAAGTTCTCTGAATAAAGTTCTTAAATGATAAAAAAGCAGACAAACAAATTTCTCTTCTTGGATATATTGCCAGCATCCCTC... | AAAAACTTTTATAATTAGATTTAGTTCCCTTATATATTGTCGAATTTCTGCCATAAATGCTTTTACCAAATCATAGTAAGTTTGTTCTCCTGAGGTGGAAGGCTCTTCGTCAGTTAAAGATAATATATTAATATCTTCTACATCTTGATGAAACATATCCATCAATACCTATACAGTCAGAGATATAAAAAAGTATAATAAAATATGAAGCTTTCGTAGAATTTGATGTGAAATGCTCTAAGTTCTCTGAATAAAGTTCTTAAATGATAAAAAAGCAGACAAACAAATTTCTCTTCTTGGATATATTGCCAGCATCCCTC... |
Task1_train_3464 | A mutation found in SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Noonan syndrome | TAATAAGTCATAAAAAGAAACTTAAGAAAAAAATAGAAAAGCTCAGTTTCCTACCTTGTCAGCACACATTGCCACTTTAATATCTTGTTTTGTAATTTCATAATGCCGTATATTTCTTACATAATTCCCAACCAGCTTTAAAATGTCTGCAGAAATGTATTCTAAGACTGCTACTATGTAAACAGAAACCTGGTGGTCAATTTTATAACCTAGGACCTCCTGCAAAATTAAAAGAAAAGCATGTTTAAACATCATATACTGTACATTTAACACACTGATTAAAAATAAAAAACATATTTGCACCTTAACTTACACTTTTT... | TAATAAGTCATAAAAAGAAACTTAAGAAAAAAATAGAAAAGCTCAGTTTCCTACCTTGTCAGCACACATTGCCACTTTAATATCTTGTTTTGTAATTTCATAATGCCGTATATTTCTTACATAATTCCCAACCAGCTTTAAAATGTCTGCAGAAATGTATTCTAAGACTGCTACTATGTAAACAGAAACCTGGTGGTCAATTTTATAACCTAGGACCTCCTGCAAAATTAAAAGAAAAGCATGTTTAAACATCATATACTGTACATTTAACACACTGATTAAAAATAAAAAACATATTTGCACCTTAACTTACACTTTTT... |
Task1_train_3465 | This mutation is located in gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; RASopathy | TGCCACTTTAATATCTTGTTTTGTAATTTCATAATGCCGTATATTTCTTACATAATTCCCAACCAGCTTTAAAATGTCTGCAGAAATGTATTCTAAGACTGCTACTATGTAAACAGAAACCTGGTGGTCAATTTTATAACCTAGGACCTCCTGCAAAATTAAAAGAAAAGCATGTTTAAACATCATATACTGTACATTTAACACACTGATTAAAAATAAAAAACATATTTGCACCTTAACTTACACTTTTTTTCCTGAGGCCTGTGCTTACCAACAACATTTAATTGTAAGTGGTTCAACAATGAATAATATATGTATTA... | TGCCACTTTAATATCTTGTTTTGTAATTTCATAATGCCGTATATTTCTTACATAATTCCCAACCAGCTTTAAAATGTCTGCAGAAATGTATTCTAAGACTGCTACTATGTAAACAGAAACCTGGTGGTCAATTTTATAACCTAGGACCTCCTGCAAAATTAAAAGAAAAGCATGTTTAAACATCATATACTGTACATTTAACACACTGATTAAAAATAAAAAACATATTTGCACCTTAACTTACACTTTTTTTCCTGAGGCCTGTGCTTACCAACAACATTTAATTGTAAGTGGTTCAACAATGAATAATATATGTATTA... |
Task1_train_3466 | A variant was discovered in gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Noonan syndrome 4 | TGCCACTTTAATATCTTGTTTTGTAATTTCATAATGCCGTATATTTCTTACATAATTCCCAACCAGCTTTAAAATGTCTGCAGAAATGTATTCTAAGACTGCTACTATGTAAACAGAAACCTGGTGGTCAATTTTATAACCTAGGACCTCCTGCAAAATTAAAAGAAAAGCATGTTTAAACATCATATACTGTACATTTAACACACTGATTAAAAATAAAAAACATATTTGCACCTTAACTTACACTTTTTTTCCTGAGGCCTGTGCTTACCAACAACATTTAATTGTAAGTGGTTCAACAATGAATAATATATGTATTA... | TGCCACTTTAATATCTTGTTTTGTAATTTCATAATGCCGTATATTTCTTACATAATTCCCAACCAGCTTTAAAATGTCTGCAGAAATGTATTCTAAGACTGCTACTATGTAAACAGAAACCTGGTGGTCAATTTTATAACCTAGGACCTCCTGCAAAATTAAAAGAAAAGCATGTTTAAACATCATATACTGTACATTTAACACACTGATTAAAAATAAAAAACATATTTGCACCTTAACTTACACTTTTTTTCCTGAGGCCTGTGCTTACCAACAACATTTAATTGTAAGTGGTTCAACAATGAATAATATATGTATTA... |
Task1_train_3467 | The gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Fibromatosis, gingival, 1 | TGCCACTTTAATATCTTGTTTTGTAATTTCATAATGCCGTATATTTCTTACATAATTCCCAACCAGCTTTAAAATGTCTGCAGAAATGTATTCTAAGACTGCTACTATGTAAACAGAAACCTGGTGGTCAATTTTATAACCTAGGACCTCCTGCAAAATTAAAAGAAAAGCATGTTTAAACATCATATACTGTACATTTAACACACTGATTAAAAATAAAAAACATATTTGCACCTTAACTTACACTTTTTTTCCTGAGGCCTGTGCTTACCAACAACATTTAATTGTAAGTGGTTCAACAATGAATAATATATGTATTA... | TGCCACTTTAATATCTTGTTTTGTAATTTCATAATGCCGTATATTTCTTACATAATTCCCAACCAGCTTTAAAATGTCTGCAGAAATGTATTCTAAGACTGCTACTATGTAAACAGAAACCTGGTGGTCAATTTTATAACCTAGGACCTCCTGCAAAATTAAAAGAAAAGCATGTTTAAACATCATATACTGTACATTTAACACACTGATTAAAAATAAAAAACATATTTGCACCTTAACTTACACTTTTTTTCCTGAGGCCTGTGCTTACCAACAACATTTAATTGTAAGTGGTTCAACAATGAATAATATATGTATTA... |
Task1_train_3468 | With a mutation on Chromosome 2 in gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | TGCCACTTTAATATCTTGTTTTGTAATTTCATAATGCCGTATATTTCTTACATAATTCCCAACCAGCTTTAAAATGTCTGCAGAAATGTATTCTAAGACTGCTACTATGTAAACAGAAACCTGGTGGTCAATTTTATAACCTAGGACCTCCTGCAAAATTAAAAGAAAAGCATGTTTAAACATCATATACTGTACATTTAACACACTGATTAAAAATAAAAAACATATTTGCACCTTAACTTACACTTTTTTTCCTGAGGCCTGTGCTTACCAACAACATTTAATTGTAAGTGGTTCAACAATGAATAATATATGTATTA... | TGCCACTTTAATATCTTGTTTTGTAATTTCATAATGCCGTATATTTCTTACATAATTCCCAACCAGCTTTAAAATGTCTGCAGAAATGTATTCTAAGACTGCTACTATGTAAACAGAAACCTGGTGGTCAATTTTATAACCTAGGACCTCCTGCAAAATTAAAAGAAAAGCATGTTTAAACATCATATACTGTACATTTAACACACTGATTAAAAATAAAAAACATATTTGCACCTTAACTTACACTTTTTTTCCTGAGGCCTGTGCTTACCAACAACATTTAATTGTAAGTGGTTCAACAATGAATAATATATGTATTA... |
Task1_train_3469 | Here is a genetic alteration in HAAO (3-hydroxyanthranilate 3,4-dioxygenase) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Congenital NAD deficiency disorder | CACCAACTCTGCACCAGGCTGTGTGCACATACTCTATGCACATTGAATTCTTCCACCAGACAGGGGCTGTTGTCCCCATGTGCTTATGGAAACAGGCTTGGAGAGGTGACATGATGTGCCCTGTCCAAGATCCCGGGGTTAGTAAGCGGCAGAGAATTCCCCCAATGCAAGTTCATCTGCCTCTGGCCCCCCTGCACCTGCACGCTCCAAGAAAGGAGTGAGGTAGGTGGAGTATAGGTGGTAGGTGGCGCTGGGGAGTGGGGAGCCGGGCCAGGGAGCTGGAGGTACCCTGACCGCTATTGCAGAGGCAGAGCTCAGTG... | CACCAACTCTGCACCAGGCTGTGTGCACATACTCTATGCACATTGAATTCTTCCACCAGACAGGGGCTGTTGTCCCCATGTGCTTATGGAAACAGGCTTGGAGAGGTGACATGATGTGCCCTGTCCAAGATCCCGGGGTTAGTAAGCGGCAGAGAATTCCCCCAATGCAAGTTCATCTGCCTCTGGCCCCCCTGCACCTGCACGCTCCAAGAAAGGAGTGAGGTAGGTGGAGTATAGGTGGTAGGTGGCGCTGGGGAGTGGGGAGCCGGGCCAGGGAGCTGGAGGTACCCTGACCGCTATTGCAGAGGCAGAGCTCAGTG... |
Task1_train_3470 | The gene HAAO (3-hydroxyanthranilate 3,4-dioxygenase) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Vertebral, cardiac, renal, and limb defects syndrome 1 | CACCAACTCTGCACCAGGCTGTGTGCACATACTCTATGCACATTGAATTCTTCCACCAGACAGGGGCTGTTGTCCCCATGTGCTTATGGAAACAGGCTTGGAGAGGTGACATGATGTGCCCTGTCCAAGATCCCGGGGTTAGTAAGCGGCAGAGAATTCCCCCAATGCAAGTTCATCTGCCTCTGGCCCCCCTGCACCTGCACGCTCCAAGAAAGGAGTGAGGTAGGTGGAGTATAGGTGGTAGGTGGCGCTGGGGAGTGGGGAGCCGGGCCAGGGAGCTGGAGGTACCCTGACCGCTATTGCAGAGGCAGAGCTCAGTG... | CACCAACTCTGCACCAGGCTGTGTGCACATACTCTATGCACATTGAATTCTTCCACCAGACAGGGGCTGTTGTCCCCATGTGCTTATGGAAACAGGCTTGGAGAGGTGACATGATGTGCCCTGTCCAAGATCCCGGGGTTAGTAAGCGGCAGAGAATTCCCCCAATGCAAGTTCATCTGCCTCTGGCCCCCCTGCACCTGCACGCTCCAAGAAAGGAGTGAGGTAGGTGGAGTATAGGTGGTAGGTGGCGCTGGGGAGTGGGGAGCCGGGCCAGGGAGCTGGAGGTACCCTGACCGCTATTGCAGAGGCAGAGCTCAGTG... |
Task1_train_3471 | This is a variant in ZFP36L2 (ZFP36 ring finger protein like 2), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Oocyte maturation defect 13 | CTCTCAAGCACTAATAAAATACTTATTTGGTTGAGGAAGATTTAAGGCAAGTTCGGGCCCTTCCAAAGGCACTGTGAGACTCCCCCCCCACTCCCCGTTATTGCTACATGTCTTTATACTCGAGTATGTCACAGTAGAACTGGTGGAATAAGCAAACACTTTTTTGCTAGTTTATAAAGTTGGAATTAGAAAAGCATGCCACATTTCAGCCTGATTGCAAAGTATGTGGTCATTTTTTTCTTTGAAGTTGGATGGGCTACAACCTTTATACATTCTAAGAAAACTCATAGGATGTTCCTCAAACTACTTCCACAGCATCA... | CTCTCAAGCACTAATAAAATACTTATTTGGTTGAGGAAGATTTAAGGCAAGTTCGGGCCCTTCCAAAGGCACTGTGAGACTCCCCCCCCACTCCCCGTTATTGCTACATGTCTTTATACTCGAGTATGTCACAGTAGAACTGGTGGAATAAGCAAACACTTTTTTGCTAGTTTATAAAGTTGGAATTAGAAAAGCATGCCACATTTCAGCCTGATTGCAAAGTATGTGGTCATTTTTTTCTTTGAAGTTGGATGGGCTACAACCTTTATACATTCTAAGAAAACTCATAGGATGTTCCTCAAACTACTTCCACAGCATCA... |
Task1_train_3472 | This variant affects gene DYNC2LI1 (dynein cytoplasmic 2 light intermediate chain 1) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | TACATCCTGCACACGCCTTTACCCTTCTGCACTGTTGCTCATTCCATCCAGAAAGCAGCATAAAATTGTCTCCTTCTCCTTCCATTCTTACCTTAAGAACAATCTTCATCTACCCAGGAAAGTCACTTTCTTTGCCCAAGTATGAAGGCCTCAAGAGGAATGAGGGAAGAAAGGGGAACTCACCTGCTCAGTCAGATCAACTGAATCAACCCTGAATCAATGCTGCTGATCAGGGCCCAGCCGGATCACCTTCACTTTCCTGGTTACCAAGCTCCCTCCTTCAAACACCTCTCCCCGTTATTCAAACAAGTGTACTTTTG... | TACATCCTGCACACGCCTTTACCCTTCTGCACTGTTGCTCATTCCATCCAGAAAGCAGCATAAAATTGTCTCCTTCTCCTTCCATTCTTACCTTAAGAACAATCTTCATCTACCCAGGAAAGTCACTTTCTTTGCCCAAGTATGAAGGCCTCAAGAGGAATGAGGGAAGAAAGGGGAACTCACCTGCTCAGTCAGATCAACTGAATCAACCCTGAATCAATGCTGCTGATCAGGGCCCAGCCGGATCACCTTCACTTTCCTGGTTACCAAGCTCCCTCCTTCAAACACCTCTCCCCGTTATTCAAACAAGTGTACTTTTG... |
Task1_train_3473 | The gene DYNC2LI1 (dynein cytoplasmic 2 light intermediate chain 1), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | TCAAGGATTATGGTTCTACATACTTATTATAACCATTTTTAAAAATACTCCTAGATTTACAAATGTTTAGTTTTTATTGTCGTAAAATATACATAGCGTAAAATTTTAGTCATTTTTAACTGTGCAGTTCAGTAACATCAAGTATATTCTCATCACCATACATCTCCAGAACTTTTTGATCTTCTCAAACTGAAACTCTTTACCTATTAAACAATAACTCCTTGTTTTTCCTTCCCCAGCTCCTGGCAACTATCATCCCTACTGCCTGTCTCTATGAATTTGACCACTCCAGTACCTCATATAAATGAAATCATTCATTA... | TCAAGGATTATGGTTCTACATACTTATTATAACCATTTTTAAAAATACTCCTAGATTTACAAATGTTTAGTTTTTATTGTCGTAAAATATACATAGCGTAAAATTTTAGTCATTTTTAACTGTGCAGTTCAGTAACATCAAGTATATTCTCATCACCATACATCTCCAGAACTTTTTGATCTTCTCAAACTGAAACTCTTTACCTATTAAACAATAACTCCTTGTTTTTCCTTCCCCAGCTCCTGGCAACTATCATCCCTACTGCCTGTCTCTATGAATTTGACCACTCCAGTACCTCATATAAATGAAATCATTCATTA... |
Task1_train_3474 | A variant was discovered on Chromosome 2, affecting DYNC2LI1 (dynein cytoplasmic 2 light intermediate chain 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | AAGAATGTAGCCAAAGTGATCAAAGCCTCATCTTTCAGTTTCACATCTCTTCTTACCCTCTGCCCCATTTAAGGAAGAAAGTTGGGTACTGCTTTGCAAAATTCCATGAAATTTAGCAGGGTTTTTTTTTTTTCCAACACTATAGTTGATCCTATATAGTGCAGTTGAGAATATTGATTCAATATTATGAACAATCTAATTAAGTTAATAAAAACAAAACACAGGCCAGGTGTGGTAGCTCTTGCCTCTAATCTCAACACTTGGAGGGTGAGGTGGGAAGATCAGTTGAGGCCAGAAGTTCAAGACCAGCCTGGGCAACA... | AAGAATGTAGCCAAAGTGATCAAAGCCTCATCTTTCAGTTTCACATCTCTTCTTACCCTCTGCCCCATTTAAGGAAGAAAGTTGGGTACTGCTTTGCAAAATTCCATGAAATTTAGCAGGGTTTTTTTTTTTTCCAACACTATAGTTGATCCTATATAGTGCAGTTGAGAATATTGATTCAATATTATGAACAATCTAATTAAGTTAATAAAAACAAAACACAGGCCAGGTGTGGTAGCTCTTGCCTCTAATCTCAACACTTGGAGGGTGAGGTGGGAAGATCAGTTGAGGCCAGAAGTTCAAGACCAGCCTGGGCAACA... |
Task1_train_3475 | This variant affects gene ABCG5, DYNC2LI1 (ATP binding cassette subfamily G member 5| dynein cytoplasmic 2 light intermediate chain 1) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Sitosterolemia 2 | GATCCCATGTTATTCTGATTCCCCTATCCCTACCTTGGTCTACTCTGGGAACTTCCTCTTTGACTTATCCAAATTTTGGCTGCATTTTCATCTACTCTCAATCTGATGTTTTTTGATGGTCTTATTTACCACATCCTAAAATAACCATTTTTTGAACTTGATCATCATTTAAGTAACTGCCCCTCTTCATCCTACCCTGTAACACCAAGTTTCTCAAAACAGAATCTGCTTCCTCCATCTTACACCTTCCCTTCTTGTAAACCTGACTTGCACCCCCATGACTCTACCGAAGCTCTTTTTTGGGAAATTGCAATGGCCTT... | GATCCCATGTTATTCTGATTCCCCTATCCCTACCTTGGTCTACTCTGGGAACTTCCTCTTTGACTTATCCAAATTTTGGCTGCATTTTCATCTACTCTCAATCTGATGTTTTTTGATGGTCTTATTTACCACATCCTAAAATAACCATTTTTTGAACTTGATCATCATTTAAGTAACTGCCCCTCTTCATCCTACCCTGTAACACCAAGTTTCTCAAAACAGAATCTGCTTCCTCCATCTTACACCTTCCCTTCTTGTAAACCTGACTTGCACCCCCATGACTCTACCGAAGCTCTTTTTTGGGAAATTGCAATGGCCTT... |
Task1_train_3476 | A genomic change on Chromosome 2 affects ABCG5, DYNC2LI1 (ATP binding cassette subfamily G member 5| dynein cytoplasmic 2 light intermediate chain 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Sitosterolemia 2 | GATCCCATGTTATTCTGATTCCCCTATCCCTACCTTGGTCTACTCTGGGAACTTCCTCTTTGACTTATCCAAATTTTGGCTGCATTTTCATCTACTCTCAATCTGATGTTTTTTGATGGTCTTATTTACCACATCCTAAAATAACCATTTTTTGAACTTGATCATCATTTAAGTAACTGCCCCTCTTCATCCTACCCTGTAACACCAAGTTTCTCAAAACAGAATCTGCTTCCTCCATCTTACACCTTCCCTTCTTGTAAACCTGACTTGCACCCCCATGACTCTACCGAAGCTCTTTTTTGGGAAATTGCAATGGCCTT... | GATCCCATGTTATTCTGATTCCCCTATCCCTACCTTGGTCTACTCTGGGAACTTCCTCTTTGACTTATCCAAATTTTGGCTGCATTTTCATCTACTCTCAATCTGATGTTTTTTGATGGTCTTATTTACCACATCCTAAAATAACCATTTTTTGAACTTGATCATCATTTAAGTAACTGCCCCTCTTCATCCTACCCTGTAACACCAAGTTTCTCAAAACAGAATCTGCTTCCTCCATCTTACACCTTCCCTTCTTGTAAACCTGACTTGCACCCCCATGACTCTACCGAAGCTCTTTTTTGGGAAATTGCAATGGCCTT... |
Task1_train_3477 | Here is a genetic alteration in ABCG8 (ATP binding cassette subfamily G member 8) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Sitosterolemia 1 | ACTTGAGTGCAATGAATCTTTTTTTAACTTTTATTTTAGGTTTGGGGATGCACAAGTAGGTTTGTTATATAGGTAAACTAGTGTCACGGGGTTTTGTTGTACAGATTATTTAATCACCCAGGTAGTAAGCTTTGTACCCAAGTGTTTTTTCCTGCTCTCCCTCCTCCCATCCTCCACCCTCAGTTAGGTGAATCCTTTTTTAAAAAAGAGTATTAAAAATACCACTGATGCACTTTGGGAGGCCCAGGCGGGTAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTCGCCAACATGGCGAAACCCTGTCTCTACTAAAA... | ACTTGAGTGCAATGAATCTTTTTTTAACTTTTATTTTAGGTTTGGGGATGCACAAGTAGGTTTGTTATATAGGTAAACTAGTGTCACGGGGTTTTGTTGTACAGATTATTTAATCACCCAGGTAGTAAGCTTTGTACCCAAGTGTTTTTTCCTGCTCTCCCTCCTCCCATCCTCCACCCTCAGTTAGGTGAATCCTTTTTTAAAAAAGAGTATTAAAAATACCACTGATGCACTTTGGGAGGCCCAGGCGGGTAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTCGCCAACATGGCGAAACCCTGTCTCTACTAAAA... |
Task1_train_3478 | A variant was discovered on Chromosome 2, affecting ABCG8 (ATP binding cassette subfamily G member 8). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Sitosterolemia 1 | GCCTTTGCCCACTGCCCTGGAGGCCAAAGGAATGATTCCATTAGAGATTCCAGATGCACCTCCTCCTATCCCACAGCTGATATCCAGAAGTCGCCCTTGACTGTCTCCCTCCCTCTCCACATCCACCTGTGAGCCAGGTCGATTCTGCCTCCTGTTTCTCTGAAATGTCTGCTTGGCTGTGTCTCCATCCCTGGCCACCATTGTTTGAGCCTGGGCCACTGCCATAGCCTGGTCTCTGTAACCTGGGCCCCTCCACATCCCTCTCGACTCAGCCACGCAGAGTGAGCTTTCCAAGGTGCAAACCCATGCCCCCCTTTGTT... | GCCTTTGCCCACTGCCCTGGAGGCCAAAGGAATGATTCCATTAGAGATTCCAGATGCACCTCCTCCTATCCCACAGCTGATATCCAGAAGTCGCCCTTGACTGTCTCCCTCCCTCTCCACATCCACCTGTGAGCCAGGTCGATTCTGCCTCCTGTTTCTCTGAAATGTCTGCTTGGCTGTGTCTCCATCCCTGGCCACCATTGTTTGAGCCTGGGCCACTGCCATAGCCTGGTCTCTGTAACCTGGGCCCCTCCACATCCCTCTCGACTCAGCCACGCAGAGTGAGCTTTCCAAGGTGCAAACCCATGCCCCCCTTTGTT... |
Task1_train_3479 | Chromosome 2 houses a mutation in gene LRPPRC (leucine rich pentatricopeptide repeat containing). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | CACTGAATGTCTGTGTGGCCCTCAGTTCCTTCATTCACGTAATGTGAGCTTTCAGTACAGCACTTTTAAAATCTAAATTCTGAGATTCTAAGACAAGATGGATTTGAGATAAAGCCCATTTTCTACTATTTCAACTGCTACAACCATAGAAAGAAATTACCTAACTCTTTTATGTTTACTAAGTAGTAAAAATGTAGTAATCAATTCAACTGTGACATGGTTGTGGAAAGCAGATTAACCTGATGAACAAACATTTCAACTGGTACCAAAAAAATTTTCATACTTGTGTAAAGGTGGACAATACTAACATGCCTGAAGAG... | CACTGAATGTCTGTGTGGCCCTCAGTTCCTTCATTCACGTAATGTGAGCTTTCAGTACAGCACTTTTAAAATCTAAATTCTGAGATTCTAAGACAAGATGGATTTGAGATAAAGCCCATTTTCTACTATTTCAACTGCTACAACCATAGAAAGAAATTACCTAACTCTTTTATGTTTACTAAGTAGTAAAAATGTAGTAATCAATTCAACTGTGACATGGTTGTGGAAAGCAGATTAACCTGATGAACAAACATTTCAACTGGTACCAAAAAAATTTTCATACTTGTGTAAAGGTGGACAATACTAACATGCCTGAAGAG... |
Task1_train_3480 | The gene SLC3A1 (solute carrier family 3 member 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cystinuria | CTCTTCTGTATAAATTCCTGGGTTCCTATATAAGTGAACAAGGGAAATAGTCCAAATTTAGCAAGTTCAAAGGCAGTCTGAGAGTGGAAACAAAGACTCCTCAAATATTGGCACAAACTTACCTTCTGTGTTGAGGTTGCACTCCTTCTCAGACCCCGTGCACTGACAACATTTATCACCTTTTTAAATTAATTGATGCATTTACTTATTTATTTATATTTATTATTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAATCTCACCTCACTACAACCTCCGCCTCCCAGGTTCA... | CTCTTCTGTATAAATTCCTGGGTTCCTATATAAGTGAACAAGGGAAATAGTCCAAATTTAGCAAGTTCAAAGGCAGTCTGAGAGTGGAAACAAAGACTCCTCAAATATTGGCACAAACTTACCTTCTGTGTTGAGGTTGCACTCCTTCTCAGACCCCGTGCACTGACAACATTTATCACCTTTTTAAATTAATTGATGCATTTACTTATTTATTTATATTTATTATTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAATCTCACCTCACTACAACCTCCGCCTCCCAGGTTCA... |
Task1_train_3481 | This variant lies on Chromosome 2 and affects the gene SLC3A1 (solute carrier family 3 member 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Cystinuria | GCCCTTCACTCTGATCCCCTTTGCCCACACCATCCTGGACCTTCTCTGTCCTTACCCTCAGGGGTCATCAGCTTCCTCTGCCCCTGGGGGTCAAGGGCCAATGCCCTGATGCCCTTAAAGCACTTTCTGCAGCTCTTCCTTAGCTCTTCAGTCTGATCATCATCCCACCCCTGCCTGCAGACACTTCCGAGACCAACACCGCCCAAAAGAAATACAATGGGAGCCACATAAGAAATTGTAAATTTTGTAGTAGCCACATTAAAAAAAGGAAAAAAGAAGCAGGTGAAATTAATTTTCATATGTTCTGTTTAATCCAATGT... | GCCCTTCACTCTGATCCCCTTTGCCCACACCATCCTGGACCTTCTCTGTCCTTACCCTCAGGGGTCATCAGCTTCCTCTGCCCCTGGGGGTCAAGGGCCAATGCCCTGATGCCCTTAAAGCACTTTCTGCAGCTCTTCCTTAGCTCTTCAGTCTGATCATCATCCCACCCCTGCCTGCAGACACTTCCGAGACCAACACCGCCCAAAAGAAATACAATGGGAGCCACATAAGAAATTGTAAATTTTGTAGTAGCCACATTAAAAAAAGGAAAAAAGAAGCAGGTGAAATTAATTTTCATATGTTCTGTTTAATCCAATGT... |
Task1_train_3482 | This alteration occurs within gene SLC3A1 (solute carrier family 3 member 1) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Cystine urolithiasis | ATTCCTTTTTTTTTTTTTTTTTTTTTTAAAAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCCCAATCTCGGCTCACCACAACTTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTATGGGCACCCGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTGTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCATTTCAT... | ATTCCTTTTTTTTTTTTTTTTTTTTTTAAAAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCCCAATCTCGGCTCACCACAACTTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTATGGGCACCCGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTGTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCATTTCAT... |
Task1_train_3483 | Consider this mutation in SLC3A1 (solute carrier family 3 member 1) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Cystinuria | TTTTTTTTTTTTTTTTTAAAAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCCCAATCTCGGCTCACCACAACTTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTATGGGCACCCGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTGTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCATTTCATCTTTTATTAT... | TTTTTTTTTTTTTTTTTAAAAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCCCAATCTCGGCTCACCACAACTTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTATGGGCACCCGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTGTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCATTTCATCTTTTATTAT... |
Task1_train_3484 | With a mutation on Chromosome 2 in gene SLC3A1 (solute carrier family 3 member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cystinuria | AGATTCTGTGTCTTTTAACGGTTTGACTGATATGTCTAAGTGTGGGTTTTTAAAAATTTTGTCCTACTTGGAGTTCATTGAGGTTCTTAGATACACAATTTTTAAAAAAATCAAATTTGGGAAGTTGTTGGCTATTTTTTTTTTAAATATTGTTTCTGACCATTTCTCTTCCTTCTCTCCTTTTGAGACTCCCATTATGCATATGTTGGTATGCATGATAGTATCCCACAGGTCTCTGAGAGTCTGGTTTTTTTTTTTGAGACAGGGTTTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTAAACATGGCTCACTGCA... | AGATTCTGTGTCTTTTAACGGTTTGACTGATATGTCTAAGTGTGGGTTTTTAAAAATTTTGTCCTACTTGGAGTTCATTGAGGTTCTTAGATACACAATTTTTAAAAAAATCAAATTTGGGAAGTTGTTGGCTATTTTTTTTTTAAATATTGTTTCTGACCATTTCTCTTCCTTCTCTCCTTTTGAGACTCCCATTATGCATATGTTGGTATGCATGATAGTATCCCACAGGTCTCTGAGAGTCTGGTTTTTTTTTTTGAGACAGGGTTTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTAAACATGGCTCACTGCA... |
Task1_train_3485 | A mutation on Chromosome 2 affecting SLC3A1 (solute carrier family 3 member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cystine urolithiasis | GTCCTACTTGGAGTTCATTGAGGTTCTTAGATACACAATTTTTAAAAAAATCAAATTTGGGAAGTTGTTGGCTATTTTTTTTTTAAATATTGTTTCTGACCATTTCTCTTCCTTCTCTCCTTTTGAGACTCCCATTATGCATATGTTGGTATGCATGATAGTATCCCACAGGTCTCTGAGAGTCTGGTTTTTTTTTTTGAGACAGGGTTTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTAAACATGGCTCACTGCAACCTTGATGTCCTGTGCTCAATTTTCCCATCTCAGCTTCTTGAGTAGCTGAGACTACAGG... | GTCCTACTTGGAGTTCATTGAGGTTCTTAGATACACAATTTTTAAAAAAATCAAATTTGGGAAGTTGTTGGCTATTTTTTTTTTAAATATTGTTTCTGACCATTTCTCTTCCTTCTCTCCTTTTGAGACTCCCATTATGCATATGTTGGTATGCATGATAGTATCCCACAGGTCTCTGAGAGTCTGGTTTTTTTTTTTGAGACAGGGTTTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTAAACATGGCTCACTGCAACCTTGATGTCCTGTGCTCAATTTTCCCATCTCAGCTTCTTGAGTAGCTGAGACTACAGG... |
Task1_train_3486 | A mutation found in SLC3A1 (solute carrier family 3 member 1) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cystinuria | TGCTAGCACTGTTGTGTGAAGGAGGGAAATATAGGTGTGAAAGTACTTTTTAAAAAGTAAAGTGCCATGCTCAGCGTATGCACATGAGGGTTTGAGTTGTGGGTTATGGAGAGAGTTGTCAGGTGATTTAAATAAATTCTTATTTAAACAAACTTATTTAAATAAGGGCTAGAATATACCTAGAACGTTTAACATGGAAATATATTTACAAATAGAAAACACTTTATAAAATTTCATCTTGGAGTATGTAAATTCTTTCTAAAAGTTGATTTACTTTAAAAATTTTGTCTGAATAATTCATAAGTCAAAACAATTTTTTA... | TGCTAGCACTGTTGTGTGAAGGAGGGAAATATAGGTGTGAAAGTACTTTTTAAAAAGTAAAGTGCCATGCTCAGCGTATGCACATGAGGGTTTGAGTTGTGGGTTATGGAGAGAGTTGTCAGGTGATTTAAATAAATTCTTATTTAAACAAACTTATTTAAATAAGGGCTAGAATATACCTAGAACGTTTAACATGGAAATATATTTACAAATAGAAAACACTTTATAAAATTTCATCTTGGAGTATGTAAATTCTTTCTAAAAGTTGATTTACTTTAAAAATTTTGTCTGAATAATTCATAAGTCAAAACAATTTTTTA... |
Task1_train_3487 | Assess the clinical impact of this variant on gene PREPL, SLC3A1 (prolyl endopeptidase like| solute carrier family 3 member 1), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Cystinuria | TAAAAATGACAGTTCTATATACATTGATATGAGACCATTTCAAACAGGTATTCAATAAAGTATAGAATGGTAACATATCACCAACTGTGTAAAGAAAAATATATAAACATATGAAATGATACATTCTGTGCCTATGCAAACATATGATACATTAAAAACAAAAGAACATATAGTGCCTGTCTCTGAGGGGAACTGTGAAGCTATGGAAAGGTGTTGAAGAAAACCTTTTTATAGTATGTATTCTTGTAATTGAATAAAAAATAAAATTACAAAAATCAGGCTTGGAAGTATTTAATAGCAGACAAAATATAGTTCAATAT... | TAAAAATGACAGTTCTATATACATTGATATGAGACCATTTCAAACAGGTATTCAATAAAGTATAGAATGGTAACATATCACCAACTGTGTAAAGAAAAATATATAAACATATGAAATGATACATTCTGTGCCTATGCAAACATATGATACATTAAAAACAAAAGAACATATAGTGCCTGTCTCTGAGGGGAACTGTGAAGCTATGGAAAGGTGTTGAAGAAAACCTTTTTATAGTATGTATTCTTGTAATTGAATAAAAAATAAAATTACAAAAATCAGGCTTGGAAGTATTTAATAGCAGACAAAATATAGTTCAATAT... |
Task1_train_3488 | Given this variant in gene PREPL, SLC3A1 (prolyl endopeptidase like| solute carrier family 3 member 1) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cystinuria | CACCAACTGTGTAAAGAAAAATATATAAACATATGAAATGATACATTCTGTGCCTATGCAAACATATGATACATTAAAAACAAAAGAACATATAGTGCCTGTCTCTGAGGGGAACTGTGAAGCTATGGAAAGGTGTTGAAGAAAACCTTTTTATAGTATGTATTCTTGTAATTGAATAAAAAATAAAATTACAAAAATCAGGCTTGGAAGTATTTAATAGCAGACAAAATATAGTTCAATATGAAAAGCATTATATGAGACAAAGGCAATTTTCAAAAATTGATAAAACATTCCACCAAAAATCATGACTACGCATCTAA... | CACCAACTGTGTAAAGAAAAATATATAAACATATGAAATGATACATTCTGTGCCTATGCAAACATATGATACATTAAAAACAAAAGAACATATAGTGCCTGTCTCTGAGGGGAACTGTGAAGCTATGGAAAGGTGTTGAAGAAAACCTTTTTATAGTATGTATTCTTGTAATTGAATAAAAAATAAAATTACAAAAATCAGGCTTGGAAGTATTTAATAGCAGACAAAATATAGTTCAATATGAAAAGCATTATATGAGACAAAGGCAATTTTCAAAAATTGATAAAACATTCCACCAAAAATCATGACTACGCATCTAA... |
Task1_train_3489 | The variant affects gene SIX3 (SIX homeobox 3), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not specified | TCACAAAGGGAGGCCCGGCTCAAGATGCTGATTACAGCTTCTTAAAAGCAACATACCTAAGAATAAATACCCATGCCTGGCCTAGGGGCTGTGGTGGCCAGAGGCAGAGAGGGCCCTCTGTGTTCTATGGGCCTTTTGGCGTCTGTTTTAGGCTTTCGATGTTACTTTCCCTAGAGAAATTAGACAGTTTAAAAATAATAATGGTAATTATTATTATTTTACAATACGAGCAAACAAGCAATTTTCAGGCCTTATTCACTTCATCCGGGTGGCTGGCCTCCAAAGTTTGAGTGCCCTCTGGGGCTGGCAGGCAGGACCAG... | TCACAAAGGGAGGCCCGGCTCAAGATGCTGATTACAGCTTCTTAAAAGCAACATACCTAAGAATAAATACCCATGCCTGGCCTAGGGGCTGTGGTGGCCAGAGGCAGAGAGGGCCCTCTGTGTTCTATGGGCCTTTTGGCGTCTGTTTTAGGCTTTCGATGTTACTTTCCCTAGAGAAATTAGACAGTTTAAAAATAATAATGGTAATTATTATTATTTTACAATACGAGCAAACAAGCAATTTTCAGGCCTTATTCACTTCATCCGGGTGGCTGGCCTCCAAAGTTTGAGTGCCCTCTGGGGCTGGCAGGCAGGACCAG... |
Task1_train_3490 | This genomic variant is located on Chromosome 2, within the SIX3 (SIX homeobox 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Holoprosencephaly 2 | GGTGAGGAGTGGGCATCTGTAGGACTTTTCTGGGTCCAGAGGGCTCTTGGGCTTCTCGGCTCCCGCAGCTCCTCCACCACTCCTCAGAGAGGCAGCTGAATTCTGGGAAGAAACAAAGAGTTGAGTTGCTTCTTAAGATGGAAAGAAGTGTACTGTTTGGACTGTTATTTTAAAATACAGGGTGGTGGGGGAAATCGAGGCTCCTTGGCCGGGGAGGGAGTAAAGAGAAGCCTAATTGATGAAGAGGGAGTTGAGGTGAATGCGGTCCATGGGCACCGATGGGGGAGGCAAGAGCGGCCTCCAGCACCCTGGGAATTGGG... | GGTGAGGAGTGGGCATCTGTAGGACTTTTCTGGGTCCAGAGGGCTCTTGGGCTTCTCGGCTCCCGCAGCTCCTCCACCACTCCTCAGAGAGGCAGCTGAATTCTGGGAAGAAACAAAGAGTTGAGTTGCTTCTTAAGATGGAAAGAAGTGTACTGTTTGGACTGTTATTTTAAAATACAGGGTGGTGGGGGAAATCGAGGCTCCTTGGCCGGGGAGGGAGTAAAGAGAAGCCTAATTGATGAAGAGGGAGTTGAGGTGAATGCGGTCCATGGGCACCGATGGGGGAGGCAAGAGCGGCCTCCAGCACCCTGGGAATTGGG... |
Task1_train_3491 | This mutation occurs in SIX3 (SIX homeobox 3) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Holoprosencephaly 2 | CCACCACTCCTCAGAGAGGCAGCTGAATTCTGGGAAGAAACAAAGAGTTGAGTTGCTTCTTAAGATGGAAAGAAGTGTACTGTTTGGACTGTTATTTTAAAATACAGGGTGGTGGGGGAAATCGAGGCTCCTTGGCCGGGGAGGGAGTAAAGAGAAGCCTAATTGATGAAGAGGGAGTTGAGGTGAATGCGGTCCATGGGCACCGATGGGGGAGGCAAGAGCGGCCTCCAGCACCCTGGGAATTGGGCTCAGGCTCCCTGGCGCCAGATACCCTCGGAATCCGGGATCCCCGGCTGGCGCCACGGCCCGCTGGGCCAAGG... | CCACCACTCCTCAGAGAGGCAGCTGAATTCTGGGAAGAAACAAAGAGTTGAGTTGCTTCTTAAGATGGAAAGAAGTGTACTGTTTGGACTGTTATTTTAAAATACAGGGTGGTGGGGGAAATCGAGGCTCCTTGGCCGGGGAGGGAGTAAAGAGAAGCCTAATTGATGAAGAGGGAGTTGAGGTGAATGCGGTCCATGGGCACCGATGGGGGAGGCAAGAGCGGCCTCCAGCACCCTGGGAATTGGGCTCAGGCTCCCTGGCGCCAGATACCCTCGGAATCCGGGATCCCCGGCTGGCGCCACGGCCCGCTGGGCCAAGG... |
Task1_train_3492 | Here is a mutation in PRKCE (protein kinase C epsilon) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | TCTAAACTGTGAGTGTTTTAACTGTTTCTAAATGCTTCTTCTATCCAAATCTTTCTAGTTCATCCTAAGCAATTTGTAACCTCTAGAAGGGTATTTTGAGCAGACCACAGAAAGTCCAGATACTTGAATTCAGCCTCCTCTTCCCTGGCCACCATGAAATCTGAGAACTAAATTGGAGCCTTGTCCCCAGCCTGAGATATTATCTGCCCAAGGTGTCCCATGGGCTGGAATGACTAGGCATGAACTTTGCCTTTTTTTTTCAGGGTCCTCAAAGTGTTCCCCCTTGCAGGATATGCACTCCAACCTTGTTTCTCCTTCCC... | TCTAAACTGTGAGTGTTTTAACTGTTTCTAAATGCTTCTTCTATCCAAATCTTTCTAGTTCATCCTAAGCAATTTGTAACCTCTAGAAGGGTATTTTGAGCAGACCACAGAAAGTCCAGATACTTGAATTCAGCCTCCTCTTCCCTGGCCACCATGAAATCTGAGAACTAAATTGGAGCCTTGTCCCCAGCCTGAGATATTATCTGCCCAAGGTGTCCCATGGGCTGGAATGACTAGGCATGAACTTTGCCTTTTTTTTTCAGGGTCCTCAAAGTGTTCCCCCTTGCAGGATATGCACTCCAACCTTGTTTCTCCTTCCC... |
Task1_train_3493 | This variant lies on Chromosome 2 and affects the gene EPAS1 (endothelial PAS domain protein 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Erythrocytosis, familial, 4 | CTACCAGGTATCAGAGCTGTTTTCTTCCTTTTAGTGTTCATCCCCCAACTCCATTGAAATAAGCTCCTTGAAGGGCTTTGAGCCCCCAGCTCAGTCCCCATACAGGGCAGTAACATCCCGTATGTGGCACAGAGCTGCACAGTTTGCACAGCCCTGCTGGCCACAGCCTGTATCCTGTTTGGTCCTCAAGACAGGACAACCTGTGAAGCGACAGTAGCCTCATTTTATGATGAGGAGACTGGAATTTAGAGAGGTTGATGAATTGACCTAATTCATACAGCTTGTTAATTAGCAGCCCCTCTACAAATAGTTGTGTGGTG... | CTACCAGGTATCAGAGCTGTTTTCTTCCTTTTAGTGTTCATCCCCCAACTCCATTGAAATAAGCTCCTTGAAGGGCTTTGAGCCCCCAGCTCAGTCCCCATACAGGGCAGTAACATCCCGTATGTGGCACAGAGCTGCACAGTTTGCACAGCCCTGCTGGCCACAGCCTGTATCCTGTTTGGTCCTCAAGACAGGACAACCTGTGAAGCGACAGTAGCCTCATTTTATGATGAGGAGACTGGAATTTAGAGAGGTTGATGAATTGACCTAATTCATACAGCTTGTTAATTAGCAGCCCCTCTACAAATAGTTGTGTGGTG... |
Task1_train_3494 | A variant found in Chromosome 2 affects EPAS1 (endothelial PAS domain protein 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Erythrocytosis, familial, 4 | TACCAGGTATCAGAGCTGTTTTCTTCCTTTTAGTGTTCATCCCCCAACTCCATTGAAATAAGCTCCTTGAAGGGCTTTGAGCCCCCAGCTCAGTCCCCATACAGGGCAGTAACATCCCGTATGTGGCACAGAGCTGCACAGTTTGCACAGCCCTGCTGGCCACAGCCTGTATCCTGTTTGGTCCTCAAGACAGGACAACCTGTGAAGCGACAGTAGCCTCATTTTATGATGAGGAGACTGGAATTTAGAGAGGTTGATGAATTGACCTAATTCATACAGCTTGTTAATTAGCAGCCCCTCTACAAATAGTTGTGTGGTGG... | TACCAGGTATCAGAGCTGTTTTCTTCCTTTTAGTGTTCATCCCCCAACTCCATTGAAATAAGCTCCTTGAAGGGCTTTGAGCCCCCAGCTCAGTCCCCATACAGGGCAGTAACATCCCGTATGTGGCACAGAGCTGCACAGTTTGCACAGCCCTGCTGGCCACAGCCTGTATCCTGTTTGGTCCTCAAGACAGGACAACCTGTGAAGCGACAGTAGCCTCATTTTATGATGAGGAGACTGGAATTTAGAGAGGTTGATGAATTGACCTAATTCATACAGCTTGTTAATTAGCAGCCCCTCTACAAATAGTTGTGTGGTGG... |
Task1_train_3495 | This alteration in EPAS1 (endothelial PAS domain protein 1) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Erythrocytosis, familial, 4 | GGTATCAGAGCTGTTTTCTTCCTTTTAGTGTTCATCCCCCAACTCCATTGAAATAAGCTCCTTGAAGGGCTTTGAGCCCCCAGCTCAGTCCCCATACAGGGCAGTAACATCCCGTATGTGGCACAGAGCTGCACAGTTTGCACAGCCCTGCTGGCCACAGCCTGTATCCTGTTTGGTCCTCAAGACAGGACAACCTGTGAAGCGACAGTAGCCTCATTTTATGATGAGGAGACTGGAATTTAGAGAGGTTGATGAATTGACCTAATTCATACAGCTTGTTAATTAGCAGCCCCTCTACAAATAGTTGTGTGGTGGAATGG... | GGTATCAGAGCTGTTTTCTTCCTTTTAGTGTTCATCCCCCAACTCCATTGAAATAAGCTCCTTGAAGGGCTTTGAGCCCCCAGCTCAGTCCCCATACAGGGCAGTAACATCCCGTATGTGGCACAGAGCTGCACAGTTTGCACAGCCCTGCTGGCCACAGCCTGTATCCTGTTTGGTCCTCAAGACAGGACAACCTGTGAAGCGACAGTAGCCTCATTTTATGATGAGGAGACTGGAATTTAGAGAGGTTGATGAATTGACCTAATTCATACAGCTTGTTAATTAGCAGCCCCTCTACAAATAGTTGTGTGGTGGAATGG... |
Task1_train_3496 | The gene EPAS1 (endothelial PAS domain protein 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Erythrocytosis, familial, 4 | GGTATCAGAGCTGTTTTCTTCCTTTTAGTGTTCATCCCCCAACTCCATTGAAATAAGCTCCTTGAAGGGCTTTGAGCCCCCAGCTCAGTCCCCATACAGGGCAGTAACATCCCGTATGTGGCACAGAGCTGCACAGTTTGCACAGCCCTGCTGGCCACAGCCTGTATCCTGTTTGGTCCTCAAGACAGGACAACCTGTGAAGCGACAGTAGCCTCATTTTATGATGAGGAGACTGGAATTTAGAGAGGTTGATGAATTGACCTAATTCATACAGCTTGTTAATTAGCAGCCCCTCTACAAATAGTTGTGTGGTGGAATGG... | GGTATCAGAGCTGTTTTCTTCCTTTTAGTGTTCATCCCCCAACTCCATTGAAATAAGCTCCTTGAAGGGCTTTGAGCCCCCAGCTCAGTCCCCATACAGGGCAGTAACATCCCGTATGTGGCACAGAGCTGCACAGTTTGCACAGCCCTGCTGGCCACAGCCTGTATCCTGTTTGGTCCTCAAGACAGGACAACCTGTGAAGCGACAGTAGCCTCATTTTATGATGAGGAGACTGGAATTTAGAGAGGTTGATGAATTGACCTAATTCATACAGCTTGTTAATTAGCAGCCCCTCTACAAATAGTTGTGTGGTGGAATGG... |
Task1_train_3497 | This sequence variant lies in PIGF (phosphatidylinositol glycan anchor biosynthesis class F) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome | TAAACAGAAAAGACTTAAATTATGTGTAATATATCAAACCTTTACACTCTAATGTATTGCATCATATACAAAATGATTATTATATCTTACCAACTCATTAAAGCTAATGTCCCATAGTACTTTATTTATCAATACTTTCTATTTAGATTTAATTGCATTACTTGATAGCAATGAATCTACACAGTTTCAATTTTCTGTGTATACTTTTCAATGATTTTGATTGTCCTCCAATTTAGAAATCACTGACACTCTGTTGAATGACATCAAGTATGGATGACTTCTATAAGATGTCAACTTAAGAAACCTTTACTAGCACCAAA... | TAAACAGAAAAGACTTAAATTATGTGTAATATATCAAACCTTTACACTCTAATGTATTGCATCATATACAAAATGATTATTATATCTTACCAACTCATTAAAGCTAATGTCCCATAGTACTTTATTTATCAATACTTTCTATTTAGATTTAATTGCATTACTTGATAGCAATGAATCTACACAGTTTCAATTTTCTGTGTATACTTTTCAATGATTTTGATTGTCCTCCAATTTAGAAATCACTGACACTCTGTTGAATGACATCAAGTATGGATGACTTCTATAAGATGTCAACTTAAGAAACCTTTACTAGCACCAAA... |
Task1_train_3498 | Here is a genetic alteration in MCFD2 (multiple coagulation factor deficiency 2, ER cargo receptor complex subunit) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Factor 5 and Factor VIII, combined deficiency of, 2 | TGGAGGGCTCAGAAGAAAACAGGAAAATGTGGGAAAGTTTGGAACTTCCTACAGACTTGTTGAATGGCTTTGCCCCAAATGCTGATAGCAATATGGACAACAAAGTCCAGGCTGAGGTGGCCTCAGATGAAGATGAGGAACTTGTTGGGAACTGGAGTAAAGGTGACTCTTGTTATGTTTTAGCAAAGAGACTGGCAGCATTTTGCCCCTTCCATAGGGATTTGTGGAACTTTGAACTTGAGAGAGATGATTTAGGTTAACTAGCGGAAGAAATTTCTAAGCAGCAAAGTGTTCAACAGGTGACTTGGGTGCTTTTAAAG... | TGGAGGGCTCAGAAGAAAACAGGAAAATGTGGGAAAGTTTGGAACTTCCTACAGACTTGTTGAATGGCTTTGCCCCAAATGCTGATAGCAATATGGACAACAAAGTCCAGGCTGAGGTGGCCTCAGATGAAGATGAGGAACTTGTTGGGAACTGGAGTAAAGGTGACTCTTGTTATGTTTTAGCAAAGAGACTGGCAGCATTTTGCCCCTTCCATAGGGATTTGTGGAACTTTGAACTTGAGAGAGATGATTTAGGTTAACTAGCGGAAGAAATTTCTAAGCAGCAAAGTGTTCAACAGGTGACTTGGGTGCTTTTAAAG... |
Task1_train_3499 | A variant was discovered in gene MCFD2 (multiple coagulation factor deficiency 2, ER cargo receptor complex subunit), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Factor 5 and Factor VIII, combined deficiency of, 2 | AGGAAAATGTGGGAAAGTTTGGAACTTCCTACAGACTTGTTGAATGGCTTTGCCCCAAATGCTGATAGCAATATGGACAACAAAGTCCAGGCTGAGGTGGCCTCAGATGAAGATGAGGAACTTGTTGGGAACTGGAGTAAAGGTGACTCTTGTTATGTTTTAGCAAAGAGACTGGCAGCATTTTGCCCCTTCCATAGGGATTTGTGGAACTTTGAACTTGAGAGAGATGATTTAGGTTAACTAGCGGAAGAAATTTCTAAGCAGCAAAGTGTTCAACAGGTGACTTGGGTGCTTTTAAAGGCATTCCCTTATAAATAAGG... | AGGAAAATGTGGGAAAGTTTGGAACTTCCTACAGACTTGTTGAATGGCTTTGCCCCAAATGCTGATAGCAATATGGACAACAAAGTCCAGGCTGAGGTGGCCTCAGATGAAGATGAGGAACTTGTTGGGAACTGGAGTAAAGGTGACTCTTGTTATGTTTTAGCAAAGAGACTGGCAGCATTTTGCCCCTTCCATAGGGATTTGTGGAACTTTGAACTTGAGAGAGATGATTTAGGTTAACTAGCGGAAGAAATTTCTAAGCAGCAAAGTGTTCAACAGGTGACTTGGGTGCTTTTAAAGGCATTCCCTTATAAATAAGG... |
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