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_16600 | The gene MMP13, LOC126861318 (matrix metallopeptidase 13| BRD4-independent group 4 enhancer GRCh37_chr11:102825894-102827093) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Metaphyseal chondrodysplasia, Spahr type | AATACCCAGAACATAAATATGTAAATTTTCACTTTTCCCTCCATAGACAGATTGGAGGTATTAGATTTGAGACACTGATCATGTAAGGCCCAGTTTTATTCTTTGGAGAAATAATCTTTTTTATTTAAATGAAAAATAAAACTCAGCTGTCTATGAAGACAACATCTACTTGTCATAACTAAGTCCTAGTTAGAACAATCTATGGCTTTTCTTCCTAAGTTAACATTCCCAATTATTTTGAGACTTGAAGATTTAACTACTAACTGATCTCATTCAACATTCAGTTTCATTTTGCTCTTGTAAATACAACCATCATCTTG... | AATACCCAGAACATAAATATGTAAATTTTCACTTTTCCCTCCATAGACAGATTGGAGGTATTAGATTTGAGACACTGATCATGTAAGGCCCAGTTTTATTCTTTGGAGAAATAATCTTTTTTATTTAAATGAAAAATAAAACTCAGCTGTCTATGAAGACAACATCTACTTGTCATAACTAAGTCCTAGTTAGAACAATCTATGGCTTTTCTTCCTAAGTTAACATTCCCAATTATTTTGAGACTTGAAGATTTAACTACTAACTGATCTCATTCAACATTCAGTTTCATTTTGCTCTTGTAAATACAACCATCATCTTG... |
Task1_train_16601 | Assess the clinical impact of this variant on gene MMP13, LOC126861318 (matrix metallopeptidase 13| BRD4-independent group 4 enhancer GRCh37_chr11:102825894-102827093), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | AGATTGGAGGTATTAGATTTGAGACACTGATCATGTAAGGCCCAGTTTTATTCTTTGGAGAAATAATCTTTTTTATTTAAATGAAAAATAAAACTCAGCTGTCTATGAAGACAACATCTACTTGTCATAACTAAGTCCTAGTTAGAACAATCTATGGCTTTTCTTCCTAAGTTAACATTCCCAATTATTTTGAGACTTGAAGATTTAACTACTAACTGATCTCATTCAACATTCAGTTTCATTTTGCTCTTGTAAATACAACCATCATCTTGTCTGTTTCATGCTGTTTGGAGTAAGAGTCTGTCTAGGTTTTTAAGAAT... | AGATTGGAGGTATTAGATTTGAGACACTGATCATGTAAGGCCCAGTTTTATTCTTTGGAGAAATAATCTTTTTTATTTAAATGAAAAATAAAACTCAGCTGTCTATGAAGACAACATCTACTTGTCATAACTAAGTCCTAGTTAGAACAATCTATGGCTTTTCTTCCTAAGTTAACATTCCCAATTATTTTGAGACTTGAAGATTTAACTACTAACTGATCTCATTCAACATTCAGTTTCATTTTGCTCTTGTAAATACAACCATCATCTTGTCTGTTTCATGCTGTTTGGAGTAAGAGTCTGTCTAGGTTTTTAAGAAT... |
Task1_train_16602 | Consider this mutation in LOC126861318, MMP13 (BRD4-independent group 4 enhancer GRCh37_chr11:102825894-102827093| matrix metallopeptidase 13) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Metaphyseal anadysplasia 1, autosomal dominant | TTGGAGGTATTAGATTTGAGACACTGATCATGTAAGGCCCAGTTTTATTCTTTGGAGAAATAATCTTTTTTATTTAAATGAAAAATAAAACTCAGCTGTCTATGAAGACAACATCTACTTGTCATAACTAAGTCCTAGTTAGAACAATCTATGGCTTTTCTTCCTAAGTTAACATTCCCAATTATTTTGAGACTTGAAGATTTAACTACTAACTGATCTCATTCAACATTCAGTTTCATTTTGCTCTTGTAAATACAACCATCATCTTGTCTGTTTCATGCTGTTTGGAGTAAGAGTCTGTCTAGGTTTTTAAGAATAGT... | TTGGAGGTATTAGATTTGAGACACTGATCATGTAAGGCCCAGTTTTATTCTTTGGAGAAATAATCTTTTTTATTTAAATGAAAAATAAAACTCAGCTGTCTATGAAGACAACATCTACTTGTCATAACTAAGTCCTAGTTAGAACAATCTATGGCTTTTCTTCCTAAGTTAACATTCCCAATTATTTTGAGACTTGAAGATTTAACTACTAACTGATCTCATTCAACATTCAGTTTCATTTTGCTCTTGTAAATACAACCATCATCTTGTCTGTTTCATGCTGTTTGGAGTAAGAGTCTGTCTAGGTTTTTAAGAATAGT... |
Task1_train_16603 | Here is a genetic alteration in DYNC2H1 (dynein cytoplasmic 2 heavy chain 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Asphyxiating thoracic dystrophy 3 | CTAACACTGTGATATGGTATATAGAGATTGGCTCAGAATTGGATTTTGGTAGGAATCTTGGTTCTACCACTTACCATCTCTGTGTTTTTGTGTAAGTTATTTAATCTGTGAGGTTCTTTCTTCTTTATTGTATGCTTGATACAATACATAAAGTCCGTATCTGTCTTTTCTTCCCACTCTGTGCCTCATTTTTCGTATATAGTAGTGAAAAGGAAACACAAAACTTCTATTTCATGGGGTTTACATGTCAACGGGAGCTTCCATGTTTGAGATCGGTGTTAAACTTGATTCAAACACAATTTCATAGTTTGTGGAAGCCC... | CTAACACTGTGATATGGTATATAGAGATTGGCTCAGAATTGGATTTTGGTAGGAATCTTGGTTCTACCACTTACCATCTCTGTGTTTTTGTGTAAGTTATTTAATCTGTGAGGTTCTTTCTTCTTTATTGTATGCTTGATACAATACATAAAGTCCGTATCTGTCTTTTCTTCCCACTCTGTGCCTCATTTTTCGTATATAGTAGTGAAAAGGAAACACAAAACTTCTATTTCATGGGGTTTACATGTCAACGGGAGCTTCCATGTTTGAGATCGGTGTTAAACTTGATTCAAACACAATTTCATAGTTTGTGGAAGCCC... |
Task1_train_16604 | This mutation occurs in DYNC2H1 (dynein cytoplasmic 2 heavy chain 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Asphyxiating thoracic dystrophy 3 | ATATATAAATGATGATTGTTTCACATGGTTTTTCTTTACTTCCTATCACACCAAGAAGAAACCAATGTCTTTGAAATGTAACATTATTTGTAGGCCTGTGAATGAATCTGTTGCTTACCTACTATGTATGGCTTATTGCTGAAACTCATGTTTTCTTTAATTACTAAATTTATTAGGATATCAGTTTAACTACTCTAATGGAGACCCCAAAAATTGTAGCTTATGTTTCTGTCTCACATTAGACTATAAGCTGCTATGGTGCCTCTGCTTCATAACTTTGTCTGGGTCCTAGGTTTTGTCAATCTTTTTGTCTACCATCT... | ATATATAAATGATGATTGTTTCACATGGTTTTTCTTTACTTCCTATCACACCAAGAAGAAACCAATGTCTTTGAAATGTAACATTATTTGTAGGCCTGTGAATGAATCTGTTGCTTACCTACTATGTATGGCTTATTGCTGAAACTCATGTTTTCTTTAATTACTAAATTTATTAGGATATCAGTTTAACTACTCTAATGGAGACCCCAAAAATTGTAGCTTATGTTTCTGTCTCACATTAGACTATAAGCTGCTATGGTGCCTCTGCTTCATAACTTTGTCTGGGTCCTAGGTTTTGTCAATCTTTTTGTCTACCATCT... |
Task1_train_16605 | Given this context: Chromosome 11, gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Jeune thoracic dystrophy | TACTCTTGATAAAAGTGCAAAGTTAATAAAAGAGAAAAAAATTGAGTTTGATGATCTTGAAGTCACAAGAAAAAAGCTGGTGTATGTTTTTTCTTTAAAATTGATAGTGCTTATTTTGAAAAAACAATTTATATATCAAGCTAGTAATTTTCTTATGTCTGTTATCTTGATAACTTTCCTCATAAACTTCATCACTTTTTAAACTACAAATAATAAGCATTCATATACTGTTGTCTTAGGAGTCATAGTTGTGTTATATAAGGATATTAAGAGAAAGCAAATTTCAAGAAAGGCCTAGAAGATAGATTTACCTAGAAGTT... | TACTCTTGATAAAAGTGCAAAGTTAATAAAAGAGAAAAAAATTGAGTTTGATGATCTTGAAGTCACAAGAAAAAAGCTGGTGTATGTTTTTTCTTTAAAATTGATAGTGCTTATTTTGAAAAAACAATTTATATATCAAGCTAGTAATTTTCTTATGTCTGTTATCTTGATAACTTTCCTCATAAACTTCATCACTTTTTAAACTACAAATAATAAGCATTCATATACTGTTGTCTTAGGAGTCATAGTTGTGTTATATAAGGATATTAAGAGAAAGCAAATTTCAAGAAAGGCCTAGAAGATAGATTTACCTAGAAGTT... |
Task1_train_16606 | Chromosome 11 houses a mutation in gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Asphyxiating thoracic dystrophy 3 | TACTCTTGATAAAAGTGCAAAGTTAATAAAAGAGAAAAAAATTGAGTTTGATGATCTTGAAGTCACAAGAAAAAAGCTGGTGTATGTTTTTTCTTTAAAATTGATAGTGCTTATTTTGAAAAAACAATTTATATATCAAGCTAGTAATTTTCTTATGTCTGTTATCTTGATAACTTTCCTCATAAACTTCATCACTTTTTAAACTACAAATAATAAGCATTCATATACTGTTGTCTTAGGAGTCATAGTTGTGTTATATAAGGATATTAAGAGAAAGCAAATTTCAAGAAAGGCCTAGAAGATAGATTTACCTAGAAGTT... | TACTCTTGATAAAAGTGCAAAGTTAATAAAAGAGAAAAAAATTGAGTTTGATGATCTTGAAGTCACAAGAAAAAAGCTGGTGTATGTTTTTTCTTTAAAATTGATAGTGCTTATTTTGAAAAAACAATTTATATATCAAGCTAGTAATTTTCTTATGTCTGTTATCTTGATAACTTTCCTCATAAACTTCATCACTTTTTAAACTACAAATAATAAGCATTCATATACTGTTGTCTTAGGAGTCATAGTTGTGTTATATAAGGATATTAAGAGAAAGCAAATTTCAAGAAAGGCCTAGAAGATAGATTTACCTAGAAGTT... |
Task1_train_16607 | This sequence change occurs on Chromosome 11, altering DYNC2H1 (dynein cytoplasmic 2 heavy chain 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Asphyxiating thoracic dystrophy 3 | TTTGTGTCTAAAATAATTTAGTCAATTTAGAGGGTAAAGTTGGTTAATTTAGGTATTTTAGGAAACTCAGCTCATATCTTAAAAATGATTTGTTTTGTTAGTTTCGGAGTATTTTGATATTAAAAAGAATATGGATTTGTAGTCTTTGGAAGGCAGCCTGTAATTATGAAAAGAACCTTGGCCTTGGAGTAAAAAATCTTAGATATTAATCTTAGCTCCACAACTTAATAGCTATGTGACTTACAGTGTTGTTTTTCTAATCAGTAAAATGGTAATCTCAGTACAGGTGGAGTATGTCTTATCCAAAGTATTTGGGACCA... | TTTGTGTCTAAAATAATTTAGTCAATTTAGAGGGTAAAGTTGGTTAATTTAGGTATTTTAGGAAACTCAGCTCATATCTTAAAAATGATTTGTTTTGTTAGTTTCGGAGTATTTTGATATTAAAAAGAATATGGATTTGTAGTCTTTGGAAGGCAGCCTGTAATTATGAAAAGAACCTTGGCCTTGGAGTAAAAAATCTTAGATATTAATCTTAGCTCCACAACTTAATAGCTATGTGACTTACAGTGTTGTTTTTCTAATCAGTAAAATGGTAATCTCAGTACAGGTGGAGTATGTCTTATCCAAAGTATTTGGGACCA... |
Task1_train_16608 | Located on Chromosome 11, this mutation impacts DYNC2H1 (dynein cytoplasmic 2 heavy chain 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Jeune thoracic dystrophy | AACAGTTTACATTCTGAACCATTTTCTCATACATGCCATTTGTATCTTTTTTCATTTTAAGGCAAACTGAAATGTTTCAAAAAAGCTCAAATTCTTAGAGAAAAATATAAGTAATCATCACTGAATAACCAAAGCCATTGTAGAACCAGAGTAGACTGCTTTATTACCACTGAAAATGTTTCCTAGTACTCTGTCAACTTCCAGATAGGATTTATAAATCAACTTAGAATAAAAGACACAGTATACAAAAAGTCTACAAAAGCAATATTGTATAATATTTGGGTTAGGGAAATGACAATTGTGTTGGGAGATATAGTGGG... | AACAGTTTACATTCTGAACCATTTTCTCATACATGCCATTTGTATCTTTTTTCATTTTAAGGCAAACTGAAATGTTTCAAAAAAGCTCAAATTCTTAGAGAAAAATATAAGTAATCATCACTGAATAACCAAAGCCATTGTAGAACCAGAGTAGACTGCTTTATTACCACTGAAAATGTTTCCTAGTACTCTGTCAACTTCCAGATAGGATTTATAAATCAACTTAGAATAAAAGACACAGTATACAAAAAGTCTACAAAAGCAATATTGTATAATATTTGGGTTAGGGAAATGACAATTGTGTTGGGAGATATAGTGGG... |
Task1_train_16609 | This variant lies on Chromosome 11 and affects the gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Asphyxiating thoracic dystrophy 3 | TCCTGAAACACTTCAGTCTTGTTCCAGTTCTTCTGTGATTTTCCTTTCTTTAGAAGTTAGTATTACGTCAGGATAATACATGACAGGGAGAATAGAAACAGCCTTCACTCTACATCTATTACTTGTCCTTTATTCGTAAAACAAGGAGGAAAACAAAAGCTGGACATGGTGGTGGAGGTGGAGAAATTTTTGCTTCATGTTTTAAAGTATGCATTCTTCTCACTGCAGTTAGACTTGGTCATGTTTTTTTCTGGCTGCTTTAACCCATTATTCTCCATTTTTGCCTGTATAAGGATTTGAGATCACATATCCTGAATCAG... | TCCTGAAACACTTCAGTCTTGTTCCAGTTCTTCTGTGATTTTCCTTTCTTTAGAAGTTAGTATTACGTCAGGATAATACATGACAGGGAGAATAGAAACAGCCTTCACTCTACATCTATTACTTGTCCTTTATTCGTAAAACAAGGAGGAAAACAAAAGCTGGACATGGTGGTGGAGGTGGAGAAATTTTTGCTTCATGTTTTAAAGTATGCATTCTTCTCACTGCAGTTAGACTTGGTCATGTTTTTTTCTGGCTGCTTTAACCCATTATTCTCCATTTTTGCCTGTATAAGGATTTGAGATCACATATCCTGAATCAG... |
Task1_train_16610 | A mutation found in DYNC2H1 (dynein cytoplasmic 2 heavy chain 1) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Asphyxiating thoracic dystrophy 3 | GCGATGAGCCTAGTCTTAGCCCCCTGGGTAAGCTTTGGAGATATGTAGGTCTTAGAGCAGCACAGTTTCAAAACCACTGTTGTAACTTAACATTGAAATATTAATTTGGAATACTGATTTATTTCAGCTTTCTTCTTATATGCCATTTTTTTTAGTTACCCAGAAAGAGAGCAGTTACAAACGATTTATGGAGCATATTTGGAACCAGTTCTACATAAAAATCTGAAGAATCATTCTATTTGGGGTTCTTCATCAAAAATTTATCTTTTAGCAGGATCTATGGTACAAGTGTATGAACAGGTAGATATGCATCTAAATTG... | GCGATGAGCCTAGTCTTAGCCCCCTGGGTAAGCTTTGGAGATATGTAGGTCTTAGAGCAGCACAGTTTCAAAACCACTGTTGTAACTTAACATTGAAATATTAATTTGGAATACTGATTTATTTCAGCTTTCTTCTTATATGCCATTTTTTTTAGTTACCCAGAAAGAGAGCAGTTACAAACGATTTATGGAGCATATTTGGAACCAGTTCTACATAAAAATCTGAAGAATCATTCTATTTGGGGTTCTTCATCAAAAATTTATCTTTTAGCAGGATCTATGGTACAAGTGTATGAACAGGTAGATATGCATCTAAATTG... |
Task1_train_16611 | Here’s a variant in DYNC2H1 (dynein cytoplasmic 2 heavy chain 1) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Asphyxiating thoracic dystrophy 3 | TATAATGAAATAAAACTAGAAAGACAGATGGGATGTTTAGGACAGTGCCTTGAATGCCGTATTGGCAAATTTTTATATAATGCAGTACAGCACGGAGGCCCTGTCAAGTTTTTTGAGGTAGAGAATGCTACACTTTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTTTGTCTCTTCTATTAATGATACTTTGTATGCAAACATTAATAGTATTATCATTAAATTATGGCATAAAAGTTTACTTTATTACCTATGGATAATTTCATTAAATCTCTCCCAAATCCTTTTTGCTTTTAATT... | TATAATGAAATAAAACTAGAAAGACAGATGGGATGTTTAGGACAGTGCCTTGAATGCCGTATTGGCAAATTTTTATATAATGCAGTACAGCACGGAGGCCCTGTCAAGTTTTTTGAGGTAGAGAATGCTACACTTTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTTTGTCTCTTCTATTAATGATACTTTGTATGCAAACATTAATAGTATTATCATTAAATTATGGCATAAAAGTTTACTTTATTACCTATGGATAATTTCATTAAATCTCTCCCAAATCCTTTTTGCTTTTAATT... |
Task1_train_16612 | A variant affecting Chromosome 11, within the gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Jeune thoracic dystrophy | TATAATGAAATAAAACTAGAAAGACAGATGGGATGTTTAGGACAGTGCCTTGAATGCCGTATTGGCAAATTTTTATATAATGCAGTACAGCACGGAGGCCCTGTCAAGTTTTTTGAGGTAGAGAATGCTACACTTTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTTTGTCTCTTCTATTAATGATACTTTGTATGCAAACATTAATAGTATTATCATTAAATTATGGCATAAAAGTTTACTTTATTACCTATGGATAATTTCATTAAATCTCTCCCAAATCCTTTTTGCTTTTAATT... | TATAATGAAATAAAACTAGAAAGACAGATGGGATGTTTAGGACAGTGCCTTGAATGCCGTATTGGCAAATTTTTATATAATGCAGTACAGCACGGAGGCCCTGTCAAGTTTTTTGAGGTAGAGAATGCTACACTTTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTTTGTCTCTTCTATTAATGATACTTTGTATGCAAACATTAATAGTATTATCATTAAATTATGGCATAAAAGTTTACTTTATTACCTATGGATAATTTCATTAAATCTCTCCCAAATCCTTTTTGCTTTTAATT... |
Task1_train_16613 | This gene mutation involves DYNC2H1 (dynein cytoplasmic 2 heavy chain 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Jeune thoracic dystrophy | TCTACAGGGTCAGGAGCTCCTAGACAAGTACTCCAGAGCCTGAAAATAATTTATTTCCATAAATGTTATTGTGTTCTATTTTGCAAAGTAACAGAATAAGAGACATTAGTTGCTAACATTCATATACTAGAGTGTTTTGTCAACTGTAGTATCTGTGACAACTTTGCCACTTCCTAACTAGGCTACCATGGGTAAATTCTCTGTGGGCTTCTGAAGTGTCACTTTTGTAATATTTTAAAATGGGTCTAGCTTGCCTCTTAAGTTCCATTCCAACTCTGCAAAGTAATAATTAATTGAATAAAATCATATAAATTCAGTAA... | TCTACAGGGTCAGGAGCTCCTAGACAAGTACTCCAGAGCCTGAAAATAATTTATTTCCATAAATGTTATTGTGTTCTATTTTGCAAAGTAACAGAATAAGAGACATTAGTTGCTAACATTCATATACTAGAGTGTTTTGTCAACTGTAGTATCTGTGACAACTTTGCCACTTCCTAACTAGGCTACCATGGGTAAATTCTCTGTGGGCTTCTGAAGTGTCACTTTTGTAATATTTTAAAATGGGTCTAGCTTGCCTCTTAAGTTCCATTCCAACTCTGCAAAGTAATAATTAATTGAATAAAATCATATAAATTCAGTAA... |
Task1_train_16614 | The gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Asphyxiating thoracic dystrophy 3 | TCTACAGGGTCAGGAGCTCCTAGACAAGTACTCCAGAGCCTGAAAATAATTTATTTCCATAAATGTTATTGTGTTCTATTTTGCAAAGTAACAGAATAAGAGACATTAGTTGCTAACATTCATATACTAGAGTGTTTTGTCAACTGTAGTATCTGTGACAACTTTGCCACTTCCTAACTAGGCTACCATGGGTAAATTCTCTGTGGGCTTCTGAAGTGTCACTTTTGTAATATTTTAAAATGGGTCTAGCTTGCCTCTTAAGTTCCATTCCAACTCTGCAAAGTAATAATTAATTGAATAAAATCATATAAATTCAGTAA... | TCTACAGGGTCAGGAGCTCCTAGACAAGTACTCCAGAGCCTGAAAATAATTTATTTCCATAAATGTTATTGTGTTCTATTTTGCAAAGTAACAGAATAAGAGACATTAGTTGCTAACATTCATATACTAGAGTGTTTTGTCAACTGTAGTATCTGTGACAACTTTGCCACTTCCTAACTAGGCTACCATGGGTAAATTCTCTGTGGGCTTCTGAAGTGTCACTTTTGTAATATTTTAAAATGGGTCTAGCTTGCCTCTTAAGTTCCATTCCAACTCTGCAAAGTAATAATTAATTGAATAAAATCATATAAATTCAGTAA... |
Task1_train_16615 | A mutation found in GRIA4 (glutamate ionotropic receptor AMPA type subunit 4) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Neurodevelopmental disorder with or without seizures and gait abnormalities | CACCCAGGTTAGTTTCAAATCTCTTAAGTTCTTCACTGATTTCCCAGTAATTCTAAATGTTGTGCAGATTATCTCTCTACATGTTCTTTTCCTGAAGACAGAGGACTATTTGAAACACAGAAAAAGACTTGCAATTCCCAAATAGCAATTTCTTCCAAGTTAGCACAAAATATGGATATATCATAAATATTAACTTTCTCAATAGCAAAGAAACTATGCAATCCATCAGAGCTCTCAAAAATCATTTAGTATTAATATTTCATTCATTGGTTTGACAAATGGAAACTGGAACCTAAATTATAGAACAGGAATTCATTTCC... | CACCCAGGTTAGTTTCAAATCTCTTAAGTTCTTCACTGATTTCCCAGTAATTCTAAATGTTGTGCAGATTATCTCTCTACATGTTCTTTTCCTGAAGACAGAGGACTATTTGAAACACAGAAAAAGACTTGCAATTCCCAAATAGCAATTTCTTCCAAGTTAGCACAAAATATGGATATATCATAAATATTAACTTTCTCAATAGCAAAGAAACTATGCAATCCATCAGAGCTCTCAAAAATCATTTAGTATTAATATTTCATTCATTGGTTTGACAAATGGAAACTGGAACCTAAATTATAGAACAGGAATTCATTTCC... |
Task1_train_16616 | Gene GRIA4 (glutamate ionotropic receptor AMPA type subunit 4) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Neurodevelopmental disorder with or without seizures and gait abnormalities | AAAAATGAATATAGTTACCATAAAATATCTTTTTCTTTGGTGTTCAAGTTTGCAAATCAGTGATTGTGTGGTTTATTAGTTAGGTTTCTTGATTACTTATTTCCGAACTTATGAAATCAAAAATTTGAATCCCACTTTTATTCATTTATTTCTTTGTCCACCTGAATAATTTGTCTTTGCCCAGGTATTCAAGTTATATGTTGATTAGTAAAGAACTGCCTCTTGTTGAATTCTATATTTTGGTAAACAAAGGAAGCTCAATGTAAATAAATGTACACACTACTCAGCACTGAGCCTCACACAAAGACGTAAGTCTGAAT... | AAAAATGAATATAGTTACCATAAAATATCTTTTTCTTTGGTGTTCAAGTTTGCAAATCAGTGATTGTGTGGTTTATTAGTTAGGTTTCTTGATTACTTATTTCCGAACTTATGAAATCAAAAATTTGAATCCCACTTTTATTCATTTATTTCTTTGTCCACCTGAATAATTTGTCTTTGCCCAGGTATTCAAGTTATATGTTGATTAGTAAAGAACTGCCTCTTGTTGAATTCTATATTTTGGTAAACAAAGGAAGCTCAATGTAAATAAATGTACACACTACTCAGCACTGAGCCTCACACAAAGACGTAAGTCTGAAT... |
Task1_train_16617 | Chromosome 11 houses a mutation in gene ACAT1 (acetyl-CoA acetyltransferase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Deficiency of acetyl-CoA acetyltransferase | CTGGTAATCTCTATGAGGCCAGACCTTTAGTTTTCTGAGTCATTTCTTTAACAATTCAACTTTTTCAGTTAGAAATATCTGTTTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACAAAGTTTAAACACTGACATACAATGTAATGACTTCCTTTCAATAATTCTCGAAGCAGCCCAGTATGAAAAATATTTGTCTTTGGCCTCTGGTAGAAGGGAAAGGTGTGAGTGTGACATTCCAAGGAAGGAGGTAGGCCTTGGTGAGCTGTTGAATAGAGAGGTTCTTCGGTGCAGGAATCACAGGGGACTTTAAGGGAC... | CTGGTAATCTCTATGAGGCCAGACCTTTAGTTTTCTGAGTCATTTCTTTAACAATTCAACTTTTTCAGTTAGAAATATCTGTTTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACAAAGTTTAAACACTGACATACAATGTAATGACTTCCTTTCAATAATTCTCGAAGCAGCCCAGTATGAAAAATATTTGTCTTTGGCCTCTGGTAGAAGGGAAAGGTGTGAGTGTGACATTCCAAGGAAGGAGGTAGGCCTTGGTGAGCTGTTGAATAGAGAGGTTCTTCGGTGCAGGAATCACAGGGGACTTTAAGGGAC... |
Task1_train_16618 | Here’s a variant in ACAT1 (acetyl-CoA acetyltransferase 1) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Deficiency of acetyl-CoA acetyltransferase | TGGTAATCTCTATGAGGCCAGACCTTTAGTTTTCTGAGTCATTTCTTTAACAATTCAACTTTTTCAGTTAGAAATATCTGTTTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACAAAGTTTAAACACTGACATACAATGTAATGACTTCCTTTCAATAATTCTCGAAGCAGCCCAGTATGAAAAATATTTGTCTTTGGCCTCTGGTAGAAGGGAAAGGTGTGAGTGTGACATTCCAAGGAAGGAGGTAGGCCTTGGTGAGCTGTTGAATAGAGAGGTTCTTCGGTGCAGGAATCACAGGGGACTTTAAGGGACA... | TGGTAATCTCTATGAGGCCAGACCTTTAGTTTTCTGAGTCATTTCTTTAACAATTCAACTTTTTCAGTTAGAAATATCTGTTTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACAAAGTTTAAACACTGACATACAATGTAATGACTTCCTTTCAATAATTCTCGAAGCAGCCCAGTATGAAAAATATTTGTCTTTGGCCTCTGGTAGAAGGGAAAGGTGTGAGTGTGACATTCCAAGGAAGGAGGTAGGCCTTGGTGAGCTGTTGAATAGAGAGGTTCTTCGGTGCAGGAATCACAGGGGACTTTAAGGGACA... |
Task1_train_16619 | The following genetic variant occurs in ACAT1 (acetyl-CoA acetyltransferase 1) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Deficiency of acetyl-CoA acetyltransferase | TGGTAATCTCTATGAGGCCAGACCTTTAGTTTTCTGAGTCATTTCTTTAACAATTCAACTTTTTCAGTTAGAAATATCTGTTTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACAAAGTTTAAACACTGACATACAATGTAATGACTTCCTTTCAATAATTCTCGAAGCAGCCCAGTATGAAAAATATTTGTCTTTGGCCTCTGGTAGAAGGGAAAGGTGTGAGTGTGACATTCCAAGGAAGGAGGTAGGCCTTGGTGAGCTGTTGAATAGAGAGGTTCTTCGGTGCAGGAATCACAGGGGACTTTAAGGGACA... | TGGTAATCTCTATGAGGCCAGACCTTTAGTTTTCTGAGTCATTTCTTTAACAATTCAACTTTTTCAGTTAGAAATATCTGTTTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACAAAGTTTAAACACTGACATACAATGTAATGACTTCCTTTCAATAATTCTCGAAGCAGCCCAGTATGAAAAATATTTGTCTTTGGCCTCTGGTAGAAGGGAAAGGTGTGAGTGTGACATTCCAAGGAAGGAGGTAGGCCTTGGTGAGCTGTTGAATAGAGAGGTTCTTCGGTGCAGGAATCACAGGGGACTTTAAGGGACA... |
Task1_train_16620 | This variant impacts the gene ACAT1 (acetyl-CoA acetyltransferase 1) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Deficiency of acetyl-CoA acetyltransferase | TCTTCTTTTACTCACAGGGACTCGCATTGTATTGTGTGTGGTACAAGCAGAGACTGTATAGAAGATCCTAGAAGAGAGGGAGTGGACCAGTTGGGAATTAGACAAGGAGGGCCATTACAGCATCTCCTAGGACCTTCTGAAGAGTCTCTGTTTTGTAAGGGTCACTAAAGTGACTTAGTTAAGATCTTCTATCAAAATCTAAGCAACCATTCTGTTATTTATCTCTAAACTTAATAGGAGATTGTGGAAGACAAGTGTAAGGAGAGAACTGTCACAGTGCTGTTTTATAGTATTCAAGAGAGCTTTTATCTTCTTTTGCT... | TCTTCTTTTACTCACAGGGACTCGCATTGTATTGTGTGTGGTACAAGCAGAGACTGTATAGAAGATCCTAGAAGAGAGGGAGTGGACCAGTTGGGAATTAGACAAGGAGGGCCATTACAGCATCTCCTAGGACCTTCTGAAGAGTCTCTGTTTTGTAAGGGTCACTAAAGTGACTTAGTTAAGATCTTCTATCAAAATCTAAGCAACCATTCTGTTATTTATCTCTAAACTTAATAGGAGATTGTGGAAGACAAGTGTAAGGAGAGAACTGTCACAGTGCTGTTTTATAGTATTCAAGAGAGCTTTTATCTTCTTTTGCT... |
Task1_train_16621 | A variant affecting Chromosome 11, within the gene ACAT1 (acetyl-CoA acetyltransferase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Inborn genetic diseases | ACTCCGTCTCAAAAAAAGACATGAGTGAAAAGTGACCTGGTATAGAAAGAAATATATATGTGTGTGTGTATATATATATGTTATTATTATTTTTTTGAAATGGTGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTTAGCTCACTGCAGCCTCCGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCACGTGCCCCCATGCCCGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCTGCCTT... | ACTCCGTCTCAAAAAAAGACATGAGTGAAAAGTGACCTGGTATAGAAAGAAATATATATGTGTGTGTGTATATATATATGTTATTATTATTTTTTTGAAATGGTGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTTAGCTCACTGCAGCCTCCGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCACGTGCCCCCATGCCCGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCTGCCTT... |
Task1_train_16622 | This mutation occurs in ACAT1 (acetyl-CoA acetyltransferase 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Deficiency of acetyl-CoA acetyltransferase | GTCTTCATTGGCATTGAAAAAAACAGATTTATTGATATAATTTATATACCATAATAACATTCTTCTATTTAAAGTGGTTTGGTAGTTTTTAACATTCATTTATATTTATCTCCAGGTGATTCTAGATAAGAATAAATATCTGATTTGAAAAATATGTAGTGAGTACCTGCTATATATTGAATAAGGAAAGTTAGACCCTGGAGACAAAAATATTAACTGGTCCCTATGTTTCAAGAGTTGTAGACGAGCATTTATCCAGTGCCATCATGCATGTTTGTGATGTTTGAGAAAACTGTTTTATGTACACAAAAAGGCATTCT... | GTCTTCATTGGCATTGAAAAAAACAGATTTATTGATATAATTTATATACCATAATAACATTCTTCTATTTAAAGTGGTTTGGTAGTTTTTAACATTCATTTATATTTATCTCCAGGTGATTCTAGATAAGAATAAATATCTGATTTGAAAAATATGTAGTGAGTACCTGCTATATATTGAATAAGGAAAGTTAGACCCTGGAGACAAAAATATTAACTGGTCCCTATGTTTCAAGAGTTGTAGACGAGCATTTATCCAGTGCCATCATGCATGTTTGTGATGTTTGAGAAAACTGTTTTATGTACACAAAAAGGCATTCT... |
Task1_train_16623 | A variant has been detected on Chromosome 11 in ACAT1 (acetyl-CoA acetyltransferase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Deficiency of acetyl-CoA acetyltransferase | ACTCACACACCTGGTGTGGTAACCACAAAGCGGAGGGAATGCTGGCTGATGGTTCCAGATCTAGAATGGAAAGCAACTAGTCACTCCCCAGGAGAGGACTCCATTCTGAAAGGGAACAGCTGGCAGCAGGTCTTCAGAGTAAATAGTAAAACTAGAGACAGAAAACCTACATATTCCAAATTGTCAGTAAGGGCTATCCAAGTCTCAGTGGGAAATTGCTAAGCAGTCACAGGAAAAGAAAGTTTTAGGGGTTCAGGGTTCTTAGAAATCTTAAGTAAATATTTCCTTTTGAGAGGGCCTCACCCTGACAGTAAACTTCT... | ACTCACACACCTGGTGTGGTAACCACAAAGCGGAGGGAATGCTGGCTGATGGTTCCAGATCTAGAATGGAAAGCAACTAGTCACTCCCCAGGAGAGGACTCCATTCTGAAAGGGAACAGCTGGCAGCAGGTCTTCAGAGTAAATAGTAAAACTAGAGACAGAAAACCTACATATTCCAAATTGTCAGTAAGGGCTATCCAAGTCTCAGTGGGAAATTGCTAAGCAGTCACAGGAAAAGAAAGTTTTAGGGGTTCAGGGTTCTTAGAAATCTTAAGTAAATATTTCCTTTTGAGAGGGCCTCACCCTGACAGTAAACTTCT... |
Task1_train_16624 | This sequence change occurs on Chromosome 11, altering ACAT1 (acetyl-CoA acetyltransferase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Deficiency of acetyl-CoA acetyltransferase | TTACAATGAAACTGCAACAGATGTAAATATCTGTGGCCCAGATAACCCTACAGTAACATTTATAAAGCAGAAACTGCAGGGGATGCATTAATATCACTAATATTAGAAACTAATATACCTCTTTCATTAACAGTCAAGAACATAGAAATGGCTGGGTGCAGTGGCGCTCGCCTGTAATCCCAGCGCTTTGGGAGGCAGATCGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGGGCCATGACTGTGCCATTCCACTTCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAATAAATCAACAACAACAAAAAAGAATATAGA... | TTACAATGAAACTGCAACAGATGTAAATATCTGTGGCCCAGATAACCCTACAGTAACATTTATAAAGCAGAAACTGCAGGGGATGCATTAATATCACTAATATTAGAAACTAATATACCTCTTTCATTAACAGTCAAGAACATAGAAATGGCTGGGTGCAGTGGCGCTCGCCTGTAATCCCAGCGCTTTGGGAGGCAGATCGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGGGCCATGACTGTGCCATTCCACTTCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAATAAATCAACAACAACAAAAAAGAATATAGA... |
Task1_train_16625 | Consider this mutation in ATM (ATM serine/threonine kinase) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Familial cancer of breast | AGTCTCCTACCTCAGTCTCCCCAGTAGCTAGGATTGCAGGCACATGCTACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTG... | AGTCTCCTACCTCAGTCTCCCCAGTAGCTAGGATTGCAGGCACATGCTACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTG... |
Task1_train_16626 | With a mutation on Chromosome 11 in gene ATM (ATM serine/threonine kinase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ataxia-telangiectasia syndrome | ATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGA... | ATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGA... |
Task1_train_16627 | A variant was discovered on Chromosome 11, affecting ATM (ATM serine/threonine kinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Ataxia-telangiectasia syndrome | CTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAATACTGCAGTATAAAATAATTATATACACATTTTTTCACACCTCTTTCTCTCTATATATGCATATATACATATACATATATATACCTATATGTATTTTTTTTACAGAC... | CTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAATACTGCAGTATAAAATAATTATATACACATTTTTTCACACCTCTTTCTCTCTATATATGCATATATACATATACATATATATACCTATATGTATTTTTTTTACAGAC... |
Task1_train_16628 | This gene mutation involves ATM (ATM serine/threonine kinase) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ataxia-telangiectasia syndrome | GCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGAATATAGAGATTAATTCCTTTCCTTAAGGATCTAATCATACAATGGATGTTTTAGATTA... | GCAGTGAGTCATAATGGGGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGATATTCTGTCTCAAAAACAAGCAAAACTATGAAAAAAAAGTCAACATTTCTTGAAATACTTCTCATATTTGGTAGAGGAGGGAGATATATTGGGATAAAGGACATAGGAAGATAGGATTTTATTATAATATTAATTTCTGTAGTTATTCAACACAAATTAATTTTTATTGAGCATTTGCTATTAGGGCAGTCACTGGGCTTTTACGTCAGAATATAGAGATTAATTCCTTTCCTTAAGGATCTAATCATACAATGGATGTTTTAGATTA... |
Task1_train_16629 | Given a variant located on Chromosome 11 and affecting ATM (ATM serine/threonine kinase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Ataxia-telangiectasia syndrome | GTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGTTTAGATAGTGTTTGATAGAGATTTCCTTGGATACCAAGAGTGTTGGGATGAGGAAGCATGAGAGGAGAAAACTTTTCCTAGTGT... | GTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGTTTAGATAGTGTTTGATAGAGATTTCCTTGGATACCAAGAGTGTTGGGATGAGGAAGCATGAGAGGAGAAAACTTTTCCTAGTGT... |
Task1_train_16630 | A genetic alteration is present in ATM, C11orf65 (ATM serine/threonine kinase| chromosome 11 open reading frame 65) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Familial cancer of breast | AATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTAT... | AATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTAT... |
Task1_train_16631 | This variant affects gene ATM, C11orf65 (ATM serine/threonine kinase| chromosome 11 open reading frame 65) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary cancer-predisposing syndrome | AATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTAT... | AATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTAT... |
Task1_train_16632 | A variant found in Chromosome 11 affects ATM, C11orf65 (ATM serine/threonine kinase| chromosome 11 open reading frame 65). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Ataxia-telangiectasia syndrome | AATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTAT... | AATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTAT... |
Task1_train_16633 | A genomic change on Chromosome 11 affects ATM, C11orf65 (ATM serine/threonine kinase| chromosome 11 open reading frame 65). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Familial cancer of breast | AATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTAT... | AATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTAT... |
Task1_train_16634 | A mutation on Chromosome 11 affecting ATM, C11orf65 (ATM serine/threonine kinase| chromosome 11 open reading frame 65) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Malignant tumor of breast | AATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTAT... | AATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTAT... |
Task1_train_16635 | Consider a variant on Chromosome 11 in gene ATM, C11orf65 (ATM serine/threonine kinase| chromosome 11 open reading frame 65). Determine its clinical classification and disease relevance. | Pathogenic; Ataxia-telangiectasia syndrome | AATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTAT... | AATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTAT... |
Task1_train_16636 | The following genetic variant occurs in ATM, C11orf65 (ATM serine/threonine kinase| chromosome 11 open reading frame 65) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Neoplasm | AATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTAT... | AATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTAT... |
Task1_train_16637 | This is a variant in ATM, C11orf65 (ATM serine/threonine kinase| chromosome 11 open reading frame 65), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Ataxia-telangiectasia syndrome | GCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAATAATAATAAACAGAGGATGATCATTT... | GCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAATAATAATAAACAGAGGATGATCATTT... |
Task1_train_16638 | An alteration has been detected in ATM, C11orf65 (ATM serine/threonine kinase| chromosome 11 open reading frame 65) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary cancer-predisposing syndrome | GCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAATAATAATAAACAGAGGATGATCATTT... | GCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAATAATAATAAACAGAGGATGATCATTT... |
Task1_train_16639 | Here is a genetic alteration in ATM, C11orf65 (ATM serine/threonine kinase| chromosome 11 open reading frame 65) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Familial cancer of breast | CTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAATAATAATAAACAGAGGATGATCATTTCCT... | CTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAATAATAATAAACAGAGGATGATCATTTCCT... |
Task1_train_16640 | Gene C11orf65, ATM (chromosome 11 open reading frame 65| ATM serine/threonine kinase) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Ataxia-telangiectasia syndrome | CTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTATGGGGAAAAGCAATTACTTCATTTTATTGTACACTGACTT... | CTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTATGGGGAAAAGCAATTACTTCATTTTATTGTACACTGACTT... |
Task1_train_16641 | Consider this mutation in ATM, C11orf65 (ATM serine/threonine kinase| chromosome 11 open reading frame 65) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Ataxia-telangiectasia syndrome | TGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTATGGGGAAAAGCAATTACTTCATTTTATTGTACACTGACTTC... | TGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTATGGGGAAAAGCAATTACTTCATTTTATTGTACACTGACTTC... |
Task1_train_16642 | Assess the clinical impact of this variant on gene ATM, C11orf65 (ATM serine/threonine kinase| chromosome 11 open reading frame 65), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | AGCTAATCTCTAGAATTTCAATGGATCACCCCCATCACACTTTGTTTATTATACTGGCCTTAGCAAATGCAAACAGAGATGAATTTCTGACTAAACCAGAGGTAGCCAGAAGAAGCAGAATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATACGTACCTTTTAGAAGTGTGATATTCAGTCTTTCCTAGAATATTTCTTTTTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAG... | AGCTAATCTCTAGAATTTCAATGGATCACCCCCATCACACTTTGTTTATTATACTGGCCTTAGCAAATGCAAACAGAGATGAATTTCTGACTAAACCAGAGGTAGCCAGAAGAAGCAGAATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATACGTACCTTTTAGAAGTGTGATATTCAGTCTTTCCTAGAATATTTCTTTTTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAG... |
Task1_train_16643 | A mutation on Chromosome 11 affecting ATM, C11orf65 (ATM serine/threonine kinase| chromosome 11 open reading frame 65) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary cancer-predisposing syndrome | TGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGCTAAAATGCCATTATTTAATTATTATTCTTGCTGTGTCAGTTCAAATAAT... | TGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGCTAAAATGCCATTATTTAATTATTATTCTTGCTGTGTCAGTTCAAATAAT... |
Task1_train_16644 | This variant lies on Chromosome 11 and affects the gene ATM, C11orf65 (ATM serine/threonine kinase| chromosome 11 open reading frame 65). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Ataxia-telangiectasia syndrome | TGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGCTAAAATGCCATTATTTAATTATTATTCTTGCTGTGTCAGTTCAAATAAT... | TGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGCTAAAATGCCATTATTTAATTATTATTCTTGCTGTGTCAGTTCAAATAAT... |
Task1_train_16645 | Here is a genetic alteration in RDX (radixin) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 24 | ATCCAATGAAAGTTCAGGTTTTTATCTATTATGCAATTGCTTTAAAGTGAACATTTATGTCTCAAAACATGAATAGTAGGGTCCACCATCCATTCCTTTGATGTACTGCAAGTAGGAATATTCTCTTCCATAGGATTCTGAAGCATGTGCACAACCATGGTACAACAGTCACTTCAAGGTTAACCAGCTATGTTTTGTCCTACAAAGTTCAAAAAATATATTAAACGCAACCTTTCTTTTACATAATGTCTGCCCAGATTAATCCTTTTAAAGTCAGCAAAATCAAAAAAGCACAAGAGATATTTTCAGACACAACTTGA... | ATCCAATGAAAGTTCAGGTTTTTATCTATTATGCAATTGCTTTAAAGTGAACATTTATGTCTCAAAACATGAATAGTAGGGTCCACCATCCATTCCTTTGATGTACTGCAAGTAGGAATATTCTCTTCCATAGGATTCTGAAGCATGTGCACAACCATGGTACAACAGTCACTTCAAGGTTAACCAGCTATGTTTTGTCCTACAAAGTTCAAAAAATATATTAAACGCAACCTTTCTTTTACATAATGTCTGCCCAGATTAATCCTTTTAAAGTCAGCAAAATCAAAAAAGCACAAGAGATATTTTCAGACACAACTTGA... |
Task1_train_16646 | The following genetic variant occurs in BTG4 (BTG anti-proliferation factor 4) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Oocyte maturation defect 8 | GACACACATAGTTTAAAAAACTAGGGACAAAACATTTGCCAGAAATATGTCAAGGGGTTAAAATCGTTCTGGCATATAAAGAACCTACAATAATACATTAGAACTTCAAATAATGAATGGCTGAATAAGAGAAAATTTGTAGGGCAGTAGGTGCTAAAACATTTGGGCACATGGAAAGTTTTAATGTTTAATTTCACTAATACTGTATTATATATGCATATCATGTTAATCAAATTATCTGTTTTTTAAATGAGAATAGCCAATTCTAGAAAAAAATGGCAAAGTTGGCACTTTTACATACAGCTGGTGAGACTACAAAT... | GACACACATAGTTTAAAAAACTAGGGACAAAACATTTGCCAGAAATATGTCAAGGGGTTAAAATCGTTCTGGCATATAAAGAACCTACAATAATACATTAGAACTTCAAATAATGAATGGCTGAATAAGAGAAAATTTGTAGGGCAGTAGGTGCTAAAACATTTGGGCACATGGAAAGTTTTAATGTTTAATTTCACTAATACTGTATTATATATGCATATCATGTTAATCAAATTATCTGTTTTTTAAATGAGAATAGCCAATTCTAGAAAAAAATGGCAAAGTTGGCACTTTTACATACAGCTGGTGAGACTACAAAT... |
Task1_train_16647 | This gene mutation involves BTG4 (BTG anti-proliferation factor 4) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Oocyte maturation defect 8 | TTCATGAAACTTTTTAAATGTAAATATACATATTTTGAATGGGTTATGGTTTAAAAAGAAGAAAAAAATAGCTGAGAAAAACTGCTCTAGTGGCAGAATTTATAGGCCTTTGACCTTTCCTATATCCAAATTTTCTATAAATGCCGTGGTATTTTCAATTGACAGAAAAAAAAATCCCACTAATCTTAATCTTTGATTCTGTAGGAATTTAAGTGGAAGGAAACCTGTGTATCTTCAAATACTGTATGAAGAAATAGGACAATAAAAGATTATGTGGATCCTAAAAGCTCAGCCAAGTGTAGGGAATACATTGTGCAGTG... | TTCATGAAACTTTTTAAATGTAAATATACATATTTTGAATGGGTTATGGTTTAAAAAGAAGAAAAAAATAGCTGAGAAAAACTGCTCTAGTGGCAGAATTTATAGGCCTTTGACCTTTCCTATATCCAAATTTTCTATAAATGCCGTGGTATTTTCAATTGACAGAAAAAAAAATCCCACTAATCTTAATCTTTGATTCTGTAGGAATTTAAGTGGAAGGAAACCTGTGTATCTTCAAATACTGTATGAAGAAATAGGACAATAAAAGATTATGTGGATCCTAAAAGCTCAGCCAAGTGTAGGGAATACATTGTGCAGTG... |
Task1_train_16648 | This variant affects gene PPP2R1B (protein phosphatase 2 scaffold subunit Abeta) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Lung carcinoma | GCCTCCCAAGGCAAGGATTACAGGTGTGAGCCACCACACCCAGCCACACTCCGGCAGTTTTGAACCCAGCCTGTTTCATGCTTCCAAGCCTCTGAAACTCATTTTTTCAATACATTATTATTGGTATATTCTAGCATTGAGGACACAGAAGAAACAAGGCAGACAAGGTTCCTCACTCTAGTGGCATTTACATTCTAATGGAGTAAGACAACAATCAATCAAGAAAATAAGTAGATGGTGATGAGTACTCTATAGAAAAAAGGAGTAGGATGATGTAGTAAGGGATGACTGTGAGGCTATTTTAAGTTGAGTGGTTGGGG... | GCCTCCCAAGGCAAGGATTACAGGTGTGAGCCACCACACCCAGCCACACTCCGGCAGTTTTGAACCCAGCCTGTTTCATGCTTCCAAGCCTCTGAAACTCATTTTTTCAATACATTATTATTGGTATATTCTAGCATTGAGGACACAGAAGAAACAAGGCAGACAAGGTTCCTCACTCTAGTGGCATTTACATTCTAATGGAGTAAGACAACAATCAATCAAGAAAATAAGTAGATGGTGATGAGTACTCTATAGAAAAAAGGAGTAGGATGATGTAGTAAGGGATGACTGTGAGGCTATTTTAAGTTGAGTGGTTGGGG... |
Task1_train_16649 | Consider this mutation in ALG9 (ALG9 alpha-1,2-mannosyltransferase) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; ALG9 congenital disorder of glycosylation | ACTAAGACCAAGAAAATTAAATGGCTAAATGAACTGCACAGATAAATACTGAAGACACTTAAAGGAAGGTCTGCTCAATATGGACTTAAATAGTTCACTTCAAAGAGGAAGATAATTTTGATAGTGTGAGAAGAGACACAAGGGTAGTTCAGGCATAGTCACCAATATAAGCGAAGTCACTGGGGTGGAAAACGCAATGATGAGTCTGGAGACACTGGAATAAAATTACAAGGATGGGAAACAATAAAAAGAAGGAAGGGGAGAGATTGGGTTTCTTTACCTGGAATCTGTCTAATATACCATTATCAGATTAAGAACAC... | ACTAAGACCAAGAAAATTAAATGGCTAAATGAACTGCACAGATAAATACTGAAGACACTTAAAGGAAGGTCTGCTCAATATGGACTTAAATAGTTCACTTCAAAGAGGAAGATAATTTTGATAGTGTGAGAAGAGACACAAGGGTAGTTCAGGCATAGTCACCAATATAAGCGAAGTCACTGGGGTGGAAAACGCAATGATGAGTCTGGAGACACTGGAATAAAATTACAAGGATGGGAAACAATAAAAAGAAGGAAGGGGAGAGATTGGGTTTCTTTACCTGGAATCTGTCTAATATACCATTATCAGATTAAGAACAC... |
Task1_train_16650 | This mutation occurs in ALG9 (ALG9 alpha-1,2-mannosyltransferase) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; ALG9 congenital disorder of glycosylation | TGACAGAGGCTGCTCCCTGGCATTCAGTATGGAAACAGTCTTTACTGTTCATTTGTTAAAACCGGAATATACTAATAGCTAGGTCAAAGGTCCACCTGATAACTTGAAAGTTCCTCATTAAGGATTTTAATAGGCCAAGGAATGATATGAGTTTCAGAATAATGGTTCAAACTTCTACCGTAAGAAAACTTTCAGCCTACCCAAAACCTTCAAAATTAAATTATACATTTTACATAGAAAATAAAGAGGTTAATTTGAAAATAAAAGTGATACTGTTTACTGTTTTTCAACAAAAGCTGTTATACCCCTCATCCTAAAAA... | TGACAGAGGCTGCTCCCTGGCATTCAGTATGGAAACAGTCTTTACTGTTCATTTGTTAAAACCGGAATATACTAATAGCTAGGTCAAAGGTCCACCTGATAACTTGAAAGTTCCTCATTAAGGATTTTAATAGGCCAAGGAATGATATGAGTTTCAGAATAATGGTTCAAACTTCTACCGTAAGAAAACTTTCAGCCTACCCAAAACCTTCAAAATTAAATTATACATTTTACATAGAAAATAAAGAGGTTAATTTGAAAATAAAAGTGATACTGTTTACTGTTTTTCAACAAAAGCTGTTATACCCCTCATCCTAAAAA... |
Task1_train_16651 | With a mutation on Chromosome 11 in gene ALG9 (ALG9 alpha-1,2-mannosyltransferase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Polycystic kidney disease, adult type | TTTTTAAATATTTAAGCAATGCTTTTTTGGTAGTTTTGATATATAAAGTATTCCAATTTGTTTTTGATATAATGAGTACTAATCTTTACTATCAAAGTTTTTATCAAAGCTATTAGTATCAAAAAAAGGTCTCATGACCAAATAAGAAAAAAGAATTCCCCTTATAGAACACTAGGAACATGCTCTTAATTATATGCTGAATGACTTTACAAACTAGATGAATATAATATAAACACACATGCATGAATTCTGCTGTCTTTGAGTACCTTCTACTCAGACTTCTTCCCTTCCTTCCTTCCCTTCTAGACAGAAACTACTTA... | TTTTTAAATATTTAAGCAATGCTTTTTTGGTAGTTTTGATATATAAAGTATTCCAATTTGTTTTTGATATAATGAGTACTAATCTTTACTATCAAAGTTTTTATCAAAGCTATTAGTATCAAAAAAAGGTCTCATGACCAAATAAGAAAAAAGAATTCCCCTTATAGAACACTAGGAACATGCTCTTAATTATATGCTGAATGACTTTACAAACTAGATGAATATAATATAAACACACATGCATGAATTCTGCTGTCTTTGAGTACCTTCTACTCAGACTTCTTCCCTTCCTTCCTTCCCTTCTAGACAGAAACTACTTA... |
Task1_train_16652 | The gene ALG9 (ALG9 alpha-1,2-mannosyltransferase) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Autosomal dominant polycystic liver disease | TTTTTAAATATTTAAGCAATGCTTTTTTGGTAGTTTTGATATATAAAGTATTCCAATTTGTTTTTGATATAATGAGTACTAATCTTTACTATCAAAGTTTTTATCAAAGCTATTAGTATCAAAAAAAGGTCTCATGACCAAATAAGAAAAAAGAATTCCCCTTATAGAACACTAGGAACATGCTCTTAATTATATGCTGAATGACTTTACAAACTAGATGAATATAATATAAACACACATGCATGAATTCTGCTGTCTTTGAGTACCTTCTACTCAGACTTCTTCCCTTCCTTCCTTCCCTTCTAGACAGAAACTACTTA... | TTTTTAAATATTTAAGCAATGCTTTTTTGGTAGTTTTGATATATAAAGTATTCCAATTTGTTTTTGATATAATGAGTACTAATCTTTACTATCAAAGTTTTTATCAAAGCTATTAGTATCAAAAAAAGGTCTCATGACCAAATAAGAAAAAAGAATTCCCCTTATAGAACACTAGGAACATGCTCTTAATTATATGCTGAATGACTTTACAAACTAGATGAATATAATATAAACACACATGCATGAATTCTGCTGTCTTTGAGTACCTTCTACTCAGACTTCTTCCCTTCCTTCCTTCCCTTCTAGACAGAAACTACTTA... |
Task1_train_16653 | Here’s a variant in ALG9 (ALG9 alpha-1,2-mannosyltransferase) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Gillessen-Kaesbach-Nishimura syndrome | TACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGGGAGGTTGCAGTGAGCAGAGATCATGCCACTGCATCCAGTCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGATTCATCAATCCAGAGGGATACAAAAAAATCTGTCACTTTCATAAGTCTCTCACAAAAGGTTTTATAAAGAGTTAGAGTATCAGTAACCCATTATAAAGGTGGAGAAGTCAATTTTTCAAAATTAACACAAATTAACTCAATTTATTCACCCACAGAGAGTAGATATTGTGTTTCTAACA... | TACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGGGAGGTTGCAGTGAGCAGAGATCATGCCACTGCATCCAGTCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGATTCATCAATCCAGAGGGATACAAAAAAATCTGTCACTTTCATAAGTCTCTCACAAAAGGTTTTATAAAGAGTTAGAGTATCAGTAACCCATTATAAAGGTGGAGAAGTCAATTTTTCAAAATTAACACAAATTAACTCAATTTATTCACCCACAGAGAGTAGATATTGTGTTTCTAACA... |
Task1_train_16654 | Here is a genetic alteration in ALG9 (ALG9 alpha-1,2-mannosyltransferase) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; ALG9 congenital disorder of glycosylation | TACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGGGAGGTTGCAGTGAGCAGAGATCATGCCACTGCATCCAGTCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGATTCATCAATCCAGAGGGATACAAAAAAATCTGTCACTTTCATAAGTCTCTCACAAAAGGTTTTATAAAGAGTTAGAGTATCAGTAACCCATTATAAAGGTGGAGAAGTCAATTTTTCAAAATTAACACAAATTAACTCAATTTATTCACCCACAGAGAGTAGATATTGTGTTTCTAACA... | TACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGGGAGGTTGCAGTGAGCAGAGATCATGCCACTGCATCCAGTCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGATTCATCAATCCAGAGGGATACAAAAAAATCTGTCACTTTCATAAGTCTCTCACAAAAGGTTTTATAAAGAGTTAGAGTATCAGTAACCCATTATAAAGGTGGAGAAGTCAATTTTTCAAAATTAACACAAATTAACTCAATTTATTCACCCACAGAGAGTAGATATTGTGTTTCTAACA... |
Task1_train_16655 | Consider a variant on Chromosome 11 in gene CRYAB (crystallin alpha B). Determine its clinical classification and disease relevance. | Pathogenic; Cataract 16 multiple types | GTTCACTTCTCTGAAGCACATGGCTAGGAAGAACATGGTGTATACCTAAACCAATCTGGGATACTGTTGGCAAGGCTGAAGGTGGTAAATAGCTGTTGGTTAGGCAACCAACAGTGTCTGCTACACAGCCACAAAAATTGGCTGTAAACTTCTGGCTAGATCACAGTATTTCAGACTATTAGGAAGTTGTTTTTTAAGAGAAAGCATTTTTGAACCGGTATAGATTTGCAATTTATATTGTCCTAGCTCCACACCCCTGCATCATGAATTTTTTTATTAAGTTTTAAATTTATTTATTTATATTTTTTGTTTTAGTTGGT... | GTTCACTTCTCTGAAGCACATGGCTAGGAAGAACATGGTGTATACCTAAACCAATCTGGGATACTGTTGGCAAGGCTGAAGGTGGTAAATAGCTGTTGGTTAGGCAACCAACAGTGTCTGCTACACAGCCACAAAAATTGGCTGTAAACTTCTGGCTAGATCACAGTATTTCAGACTATTAGGAAGTTGTTTTTTAAGAGAAAGCATTTTTGAACCGGTATAGATTTGCAATTTATATTGTCCTAGCTCCACACCCCTGCATCATGAATTTTTTTATTAAGTTTTAAATTTATTTATTTATATTTTTTGTTTTAGTTGGT... |
Task1_train_16656 | A mutation found in CRYAB (crystallin alpha B) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Myofibrillar myopathy 2 | ATACTGTTGGCAAGGCTGAAGGTGGTAAATAGCTGTTGGTTAGGCAACCAACAGTGTCTGCTACACAGCCACAAAAATTGGCTGTAAACTTCTGGCTAGATCACAGTATTTCAGACTATTAGGAAGTTGTTTTTTAAGAGAAAGCATTTTTGAACCGGTATAGATTTGCAATTTATATTGTCCTAGCTCCACACCCCTGCATCATGAATTTTTTTATTAAGTTTTAAATTTATTTATTTATATTTTTTGTTTTAGTTGGTATAGTCAATTTTTCATTTTAGTCATTCTAATAGGGGCTCAGTGATTCTCATTGTGATCTT... | ATACTGTTGGCAAGGCTGAAGGTGGTAAATAGCTGTTGGTTAGGCAACCAACAGTGTCTGCTACACAGCCACAAAAATTGGCTGTAAACTTCTGGCTAGATCACAGTATTTCAGACTATTAGGAAGTTGTTTTTTAAGAGAAAGCATTTTTGAACCGGTATAGATTTGCAATTTATATTGTCCTAGCTCCACACCCCTGCATCATGAATTTTTTTATTAAGTTTTAAATTTATTTATTTATATTTTTTGTTTTAGTTGGTATAGTCAATTTTTCATTTTAGTCATTCTAATAGGGGCTCAGTGATTCTCATTGTGATCTT... |
Task1_train_16657 | Consider this mutation in CRYAB (crystallin alpha B) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Myofibrillar myopathy 2 | TGTTGGTTAGGCAACCAACAGTGTCTGCTACACAGCCACAAAAATTGGCTGTAAACTTCTGGCTAGATCACAGTATTTCAGACTATTAGGAAGTTGTTTTTTAAGAGAAAGCATTTTTGAACCGGTATAGATTTGCAATTTATATTGTCCTAGCTCCACACCCCTGCATCATGAATTTTTTTATTAAGTTTTAAATTTATTTATTTATATTTTTTGTTTTAGTTGGTATAGTCAATTTTTCATTTTAGTCATTCTAATAGGGGCTCAGTGATTCTCATTGTGATCTTTTTTTTCCTTTATTTTCTTACATAGGTAAATGC... | TGTTGGTTAGGCAACCAACAGTGTCTGCTACACAGCCACAAAAATTGGCTGTAAACTTCTGGCTAGATCACAGTATTTCAGACTATTAGGAAGTTGTTTTTTAAGAGAAAGCATTTTTGAACCGGTATAGATTTGCAATTTATATTGTCCTAGCTCCACACCCCTGCATCATGAATTTTTTTATTAAGTTTTAAATTTATTTATTTATATTTTTTGTTTTAGTTGGTATAGTCAATTTTTCATTTTAGTCATTCTAATAGGGGCTCAGTGATTCTCATTGTGATCTTTTTTTTCCTTTATTTTCTTACATAGGTAAATGC... |
Task1_train_16658 | A variant has been detected on Chromosome 11 in CRYAB (crystallin alpha B). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Dilated cardiomyopathy 1II | GTGTTCCAGTCCTTTAAACTGAGAGCTAAAATCAAAGAGGGCAGAGAGAGAGTAACTAATATTCCTTGAACTCTGCCAGCGGCTTTTCCTGCTTCTTCTCCTTAATTTACTTCCTATAATTCCTCTGTACAACTCAGTAACCCATGTTATAAATGGAAAACCTGAAGACCAGAAAGGTTAAGCAACTTGCCTACATTTATACCAGTAGTAAATGGTGAAGTCAGTCATTCTGACTCTAAAATCCTTGGAGCCCTCTAAATCATAATGCAATCATAAATAGATCTGTGGTATCTGTATATTTATTTAAAAGTGTGTGGAAT... | GTGTTCCAGTCCTTTAAACTGAGAGCTAAAATCAAAGAGGGCAGAGAGAGAGTAACTAATATTCCTTGAACTCTGCCAGCGGCTTTTCCTGCTTCTTCTCCTTAATTTACTTCCTATAATTCCTCTGTACAACTCAGTAACCCATGTTATAAATGGAAAACCTGAAGACCAGAAAGGTTAAGCAACTTGCCTACATTTATACCAGTAGTAAATGGTGAAGTCAGTCATTCTGACTCTAAAATCCTTGGAGCCCTCTAAATCATAATGCAATCATAAATAGATCTGTGGTATCTGTATATTTATTTAAAAGTGTGTGGAAT... |
Task1_train_16659 | This variant affects gene CRYAB (crystallin alpha B) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Cataract 16 multiple types | TGACTCTCAAGCATGTAGCCAAACAGGCTCTCGTTAACTGATTACCACATGGGCTGTAGGGGATTAAAGACTGAGCACAGCTCTGAAATTTAGACAAACCAAGTAGTTCAGCATTAAGATGGGCTAAAGAAGAGACACGGATTCTTGCACAGCTAAAAGAGAAGTCACAACTCAAGTGCTTTTAGGGTACCTGTAGTTAATGTAATTATGCAAAGCAACTAGGTGTCTGACAGCCCTATACCTAATCAGTGGTTCTCAACCTTGACTGTAGATTAGAATTACCTTAAAAATTGCTGATGCCTGGGTCCCACCCTTAAAAA... | TGACTCTCAAGCATGTAGCCAAACAGGCTCTCGTTAACTGATTACCACATGGGCTGTAGGGGATTAAAGACTGAGCACAGCTCTGAAATTTAGACAAACCAAGTAGTTCAGCATTAAGATGGGCTAAAGAAGAGACACGGATTCTTGCACAGCTAAAAGAGAAGTCACAACTCAAGTGCTTTTAGGGTACCTGTAGTTAATGTAATTATGCAAAGCAACTAGGTGTCTGACAGCCCTATACCTAATCAGTGGTTCTCAACCTTGACTGTAGATTAGAATTACCTTAAAAATTGCTGATGCCTGGGTCCCACCCTTAAAAA... |
Task1_train_16660 | A variant on Chromosome 11 in gene LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary cancer-predisposing syndrome | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... |
Task1_train_16661 | Mutation context: Chromosome 11, Gene LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Paragangliomas with sensorineural hearing loss | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... |
Task1_train_16662 | The variant affects gene LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Pheochromocytoma | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... |
Task1_train_16663 | This alteration occurs within gene LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Carney-Stratakis syndrome | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... |
Task1_train_16664 | Gene LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cowden syndrome 3 | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... |
Task1_train_16665 | A variant was discovered in gene LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hereditary cancer-predisposing syndrome | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... |
Task1_train_16666 | A variant was discovered in gene LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Pheochromocytoma | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... |
Task1_train_16667 | This gene mutation involves LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cowden syndrome 3 | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... |
Task1_train_16668 | Gene LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Carney-Stratakis syndrome | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... |
Task1_train_16669 | This variant affects the gene LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Paragangliomas with sensorineural hearing loss | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... | TTTTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAAC... |
Task1_train_16670 | This genomic variant is located on Chromosome 11, within the LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cowden syndrome 3 | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... |
Task1_train_16671 | This alteration occurs within gene LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Carney-Stratakis syndrome | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... |
Task1_train_16672 | This alteration occurs within gene LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Pheochromocytoma | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... |
Task1_train_16673 | Gene LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Paragangliomas with sensorineural hearing loss | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... |
Task1_train_16674 | This genomic variant is located on Chromosome 11, within the LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary cancer-predisposing syndrome | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... |
Task1_train_16675 | With a mutation on Chromosome 11 in gene LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary cancer-predisposing syndrome | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... |
Task1_train_16676 | A variant on Chromosome 11 in gene LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Paragangliomas with sensorineural hearing loss | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... |
Task1_train_16677 | A mutation on Chromosome 11 affecting LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Pheochromocytoma | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... |
Task1_train_16678 | This is a variant in LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Carney-Stratakis syndrome | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... |
Task1_train_16679 | A sequence alteration has been identified in LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Cowden syndrome 3 | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... |
Task1_train_16680 | This sequence change occurs on Chromosome 11, altering LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary pheochromocytoma-paraganglioma | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... | TTTTGTTCTTCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAG... |
Task1_train_16681 | A mutation found in SDHD (succinate dehydrogenase complex subunit D) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Pheochromocytoma | CTTGAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCT... | CTTGAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCT... |
Task1_train_16682 | Given this context: Chromosome 11, gene SDHD (succinate dehydrogenase complex subunit D) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Paragangliomas with sensorineural hearing loss | CTTGAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCT... | CTTGAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCT... |
Task1_train_16683 | Here’s a variant in SDHD (succinate dehydrogenase complex subunit D) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cowden syndrome 3 | CTTGAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCT... | CTTGAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCT... |
Task1_train_16684 | A mutation in SDHD (succinate dehydrogenase complex subunit D), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Carney-Stratakis syndrome | CTTGAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCT... | CTTGAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCT... |
Task1_train_16685 | A variant found in Chromosome 11 affects SDHD (succinate dehydrogenase complex subunit D). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Paragangliomas with sensorineural hearing loss | GAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAAT... | GAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAAT... |
Task1_train_16686 | This mutation occurs in SDHD (succinate dehydrogenase complex subunit D) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Carney-Stratakis syndrome | GAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAAT... | GAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAAT... |
Task1_train_16687 | A mutation on Chromosome 11 affecting SDHD (succinate dehydrogenase complex subunit D) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cowden syndrome 3 | GAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAAT... | GAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAAT... |
Task1_train_16688 | Gene SDHD (succinate dehydrogenase complex subunit D) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Pheochromocytoma | GAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAAT... | GAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAAT... |
Task1_train_16689 | The gene SDHD (succinate dehydrogenase complex subunit D), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Paraganglioma | GAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAAT... | GAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAAT... |
Task1_train_16690 | Gene SDHD (succinate dehydrogenase complex subunit D), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Fatal infantile mitochondrial cardiomyopathy | GGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACT... | GGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACT... |
Task1_train_16691 | Here’s a variant in SDHD (succinate dehydrogenase complex subunit D) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Mitochondrial complex 2 deficiency, nuclear type 3 | GGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACT... | GGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACT... |
Task1_train_16692 | Here is a mutation in SDHD (succinate dehydrogenase complex subunit D) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary cancer-predisposing syndrome | CCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACTGTCCCTAGA... | CCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACTGTCCCTAGA... |
Task1_train_16693 | Consider a variant on Chromosome 11 in gene SDHD (succinate dehydrogenase complex subunit D). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary cancer-predisposing syndrome | GCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACTGTCCCTAGAATGCTCCCCACTCGCTCCCAC... | GCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACTGTCCCTAGAATGCTCCCCACTCGCTCCCAC... |
Task1_train_16694 | This genomic variant is located on Chromosome 11, within the SDHD (succinate dehydrogenase complex subunit D) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Paragangliomas with sensorineural hearing loss | GCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACTGTCCCTAGAATGCTCCCCACTCGCTCCCAC... | GCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACTGTCCCTAGAATGCTCCCCACTCGCTCCCAC... |
Task1_train_16695 | This sequence variant lies in SDHD (succinate dehydrogenase complex subunit D) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Pheochromocytoma | GCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACTGTCCCTAGAATGCTCCCCACTCGCTCCCAC... | GCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACTGTCCCTAGAATGCTCCCCACTCGCTCCCAC... |
Task1_train_16696 | This alteration in SDHD (succinate dehydrogenase complex subunit D) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Carney-Stratakis syndrome | GCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACTGTCCCTAGAATGCTCCCCACTCGCTCCCAC... | GCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACTGTCCCTAGAATGCTCCCCACTCGCTCCCAC... |
Task1_train_16697 | The variant affects gene SDHD (succinate dehydrogenase complex subunit D), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Cowden syndrome 3 | GCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACTGTCCCTAGAATGCTCCCCACTCGCTCCCAC... | GCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACTGTCCCTAGAATGCTCCCCACTCGCTCCCAC... |
Task1_train_16698 | Chromosome 11 houses a mutation in gene SDHD (succinate dehydrogenase complex subunit D). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hereditary pheochromocytoma-paraganglioma | CTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCT... | CTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCT... |
Task1_train_16699 | This sequence variant lies in SDHD (succinate dehydrogenase complex subunit D) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Pheochromocytoma | CTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCT... | CTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCT... |
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