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_7100 | A mutation found in HESX1 (HESX homeobox 1) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Septo-optic dysplasia sequence | CTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACG... | CTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACG... |
Task1_train_7101 | Assess the clinical impact of this variant on gene HESX1 (HESX homeobox 1), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES | TAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACGCTTATTGTTGACCAATTGTTGGGACACATAGCTCTCAACCTCAAATGTGCTCTCAGTAAATAATTTTAAAAAGCTCTAAAATCTGAGTCATGCTGCGTTTCCTTAGAAATAATATGCAAACTCCCTCT... | TAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACGCTTATTGTTGACCAATTGTTGGGACACATAGCTCTCAACCTCAAATGTGCTCTCAGTAAATAATTTTAAAAAGCTCTAAAATCTGAGTCATGCTGCGTTTCCTTAGAAATAATATGCAAACTCCCTCT... |
Task1_train_7102 | Gene HESX1 (HESX homeobox 1) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; PITUITARY HORMONE DEFICIENCY, COMBINED, 5 | GTTTCAAAATGTGCATGGAAGAAACTAATGAAAACAACTCACACTTTTGTTCTTCAGATTATTTTACTTGAAATACTTTATAATTAGAATCCAGCTTGTGGAATCACTTAGTCATGAGTCTATTGATTTTAACAAACTAATTTATTAGATTAATTTGGCTTACTTAAAAAATAGCAATCTTTTCTGAAAATGTTTATTAAAATATATATAAAAGGTCTTTACTATAACTAAAAGTGCCCAAATATGTACCATGCTATAATAGTATTTACAATATATTTTCAGAAAAAATGACAATATTCAGATTAAATGCAGGAAAGAAA... | GTTTCAAAATGTGCATGGAAGAAACTAATGAAAACAACTCACACTTTTGTTCTTCAGATTATTTTACTTGAAATACTTTATAATTAGAATCCAGCTTGTGGAATCACTTAGTCATGAGTCTATTGATTTTAACAAACTAATTTATTAGATTAATTTGGCTTACTTAAAAAATAGCAATCTTTTCTGAAAATGTTTATTAAAATATATATAAAAGGTCTTTACTATAACTAAAAGTGCCCAAATATGTACCATGCTATAATAGTATTTACAATATATTTTCAGAAAAAATGACAATATTCAGATTAAATGCAGGAAAGAAA... |
Task1_train_7103 | Given a variant located on Chromosome 3 and affecting APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Maturity-onset diabetes of the young type 14 | AGATGGAGCTTTGCCCTTGTTGCCCAGGCTGGAGTGCAGTAGTGTGATCTTGGGTCACCACAACCTCCACACCCCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCATGCACCAGCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTGTACCCAGCCCCCTTTTTTTTTTTTTTGGAGATGGAGTTTTGCTAATGTCTCCCAGGCTGGAGTG... | AGATGGAGCTTTGCCCTTGTTGCCCAGGCTGGAGTGCAGTAGTGTGATCTTGGGTCACCACAACCTCCACACCCCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCATGCACCAGCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTGTACCCAGCCCCCTTTTTTTTTTTTTTGGAGATGGAGTTTTGCTAATGTCTCCCAGGCTGGAGTG... |
Task1_train_7104 | A sequence alteration has been identified in FLNB (filamin B) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; not provided | CTTGGTGGGTGGCTGGGGAGACACCAAGATGCAGATAGCTCAGTCACTCCTCAACAAGCGGCTTAGTTCTGGAATGAGGTGGGAGGCCAAGGAACTCACACATAAATGCTGGTGGGAGTGAAGTGCCACCAGCTGTAGAATCTGGTGTCAGAATGATGAGCCAGGAGTTATCCCACAGGAGGATGGGTGAAGGTCTTCCCATCAAAGGGATAGAGAACATGTGAAGAGGTCCAGGGGCTCAGGGCAAGATGTAGTCCAGGAACAAGGAGTCTTTGAGCCTGCAGTATGGTGGGTGGAAGTGGCAAGAGTGGAAAGCGGAT... | CTTGGTGGGTGGCTGGGGAGACACCAAGATGCAGATAGCTCAGTCACTCCTCAACAAGCGGCTTAGTTCTGGAATGAGGTGGGAGGCCAAGGAACTCACACATAAATGCTGGTGGGAGTGAAGTGCCACCAGCTGTAGAATCTGGTGTCAGAATGATGAGCCAGGAGTTATCCCACAGGAGGATGGGTGAAGGTCTTCCCATCAAAGGGATAGAGAACATGTGAAGAGGTCCAGGGGCTCAGGGCAAGATGTAGTCCAGGAACAAGGAGTCTTTGAGCCTGCAGTATGGTGGGTGGAAGTGGCAAGAGTGGAAAGCGGAT... |
Task1_train_7105 | Located on Chromosome 3, this mutation impacts FLNB (filamin B). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Boomerang dysplasia | GCTGGGGAGACACCAAGATGCAGATAGCTCAGTCACTCCTCAACAAGCGGCTTAGTTCTGGAATGAGGTGGGAGGCCAAGGAACTCACACATAAATGCTGGTGGGAGTGAAGTGCCACCAGCTGTAGAATCTGGTGTCAGAATGATGAGCCAGGAGTTATCCCACAGGAGGATGGGTGAAGGTCTTCCCATCAAAGGGATAGAGAACATGTGAAGAGGTCCAGGGGCTCAGGGCAAGATGTAGTCCAGGAACAAGGAGTCTTTGAGCCTGCAGTATGGTGGGTGGAAGTGGCAAGAGTGGAAAGCGGATTGGATGGGGTT... | GCTGGGGAGACACCAAGATGCAGATAGCTCAGTCACTCCTCAACAAGCGGCTTAGTTCTGGAATGAGGTGGGAGGCCAAGGAACTCACACATAAATGCTGGTGGGAGTGAAGTGCCACCAGCTGTAGAATCTGGTGTCAGAATGATGAGCCAGGAGTTATCCCACAGGAGGATGGGTGAAGGTCTTCCCATCAAAGGGATAGAGAACATGTGAAGAGGTCCAGGGGCTCAGGGCAAGATGTAGTCCAGGAACAAGGAGTCTTTGAGCCTGCAGTATGGTGGGTGGAAGTGGCAAGAGTGGAAAGCGGATTGGATGGGGTT... |
Task1_train_7106 | Chromosome 3 houses a mutation in gene FLNB (filamin B). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Atelosteogenesis type I | GGAGACACCAAGATGCAGATAGCTCAGTCACTCCTCAACAAGCGGCTTAGTTCTGGAATGAGGTGGGAGGCCAAGGAACTCACACATAAATGCTGGTGGGAGTGAAGTGCCACCAGCTGTAGAATCTGGTGTCAGAATGATGAGCCAGGAGTTATCCCACAGGAGGATGGGTGAAGGTCTTCCCATCAAAGGGATAGAGAACATGTGAAGAGGTCCAGGGGCTCAGGGCAAGATGTAGTCCAGGAACAAGGAGTCTTTGAGCCTGCAGTATGGTGGGTGGAAGTGGCAAGAGTGGAAAGCGGATTGGATGGGGTTTATGT... | GGAGACACCAAGATGCAGATAGCTCAGTCACTCCTCAACAAGCGGCTTAGTTCTGGAATGAGGTGGGAGGCCAAGGAACTCACACATAAATGCTGGTGGGAGTGAAGTGCCACCAGCTGTAGAATCTGGTGTCAGAATGATGAGCCAGGAGTTATCCCACAGGAGGATGGGTGAAGGTCTTCCCATCAAAGGGATAGAGAACATGTGAAGAGGTCCAGGGGCTCAGGGCAAGATGTAGTCCAGGAACAAGGAGTCTTTGAGCCTGCAGTATGGTGGGTGGAAGTGGCAAGAGTGGAAAGCGGATTGGATGGGGTTTATGT... |
Task1_train_7107 | Given this context: Chromosome 3, gene FLNB (filamin B) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | GAGACACCAAGATGCAGATAGCTCAGTCACTCCTCAACAAGCGGCTTAGTTCTGGAATGAGGTGGGAGGCCAAGGAACTCACACATAAATGCTGGTGGGAGTGAAGTGCCACCAGCTGTAGAATCTGGTGTCAGAATGATGAGCCAGGAGTTATCCCACAGGAGGATGGGTGAAGGTCTTCCCATCAAAGGGATAGAGAACATGTGAAGAGGTCCAGGGGCTCAGGGCAAGATGTAGTCCAGGAACAAGGAGTCTTTGAGCCTGCAGTATGGTGGGTGGAAGTGGCAAGAGTGGAAAGCGGATTGGATGGGGTTTATGTA... | GAGACACCAAGATGCAGATAGCTCAGTCACTCCTCAACAAGCGGCTTAGTTCTGGAATGAGGTGGGAGGCCAAGGAACTCACACATAAATGCTGGTGGGAGTGAAGTGCCACCAGCTGTAGAATCTGGTGTCAGAATGATGAGCCAGGAGTTATCCCACAGGAGGATGGGTGAAGGTCTTCCCATCAAAGGGATAGAGAACATGTGAAGAGGTCCAGGGGCTCAGGGCAAGATGTAGTCCAGGAACAAGGAGTCTTTGAGCCTGCAGTATGGTGGGTGGAAGTGGCAAGAGTGGAAAGCGGATTGGATGGGGTTTATGTA... |
Task1_train_7108 | Given this context: Chromosome 3, gene FLNB (filamin B) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Atelosteogenesis type I | GGTTACAGGAGTGTGCCACTGCACCTGGCCATTATTATGGAAAATTTTAGGCGTATACAAAAGTAGAGACAGTGGTGTCTTACATGCTCATGAACCCATGATCCAGTGACATCCGTTAATGGCATTTTGGAATCATATTTCATCTGTTTTTGTCCTCAAATGTTTTGAAGCAAATTTCAGCATTACATCATTTCACTCTTAAATATCTCAGTATGGTTCTCTAATAGTTGAAGACTCCATTTACATTTATATAAGGAGCATAATTTACACTTGTGTAACCCAAAGGAATGACCAAGCCTGTGCTTCTCTCCCCAGATAGC... | GGTTACAGGAGTGTGCCACTGCACCTGGCCATTATTATGGAAAATTTTAGGCGTATACAAAAGTAGAGACAGTGGTGTCTTACATGCTCATGAACCCATGATCCAGTGACATCCGTTAATGGCATTTTGGAATCATATTTCATCTGTTTTTGTCCTCAAATGTTTTGAAGCAAATTTCAGCATTACATCATTTCACTCTTAAATATCTCAGTATGGTTCTCTAATAGTTGAAGACTCCATTTACATTTATATAAGGAGCATAATTTACACTTGTGTAACCCAAAGGAATGACCAAGCCTGTGCTTCTCTCCCCAGATAGC... |
Task1_train_7109 | A mutation on Chromosome 3 affecting FLNB (filamin B) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Atelosteogenesis type III | GGTTACAGGAGTGTGCCACTGCACCTGGCCATTATTATGGAAAATTTTAGGCGTATACAAAAGTAGAGACAGTGGTGTCTTACATGCTCATGAACCCATGATCCAGTGACATCCGTTAATGGCATTTTGGAATCATATTTCATCTGTTTTTGTCCTCAAATGTTTTGAAGCAAATTTCAGCATTACATCATTTCACTCTTAAATATCTCAGTATGGTTCTCTAATAGTTGAAGACTCCATTTACATTTATATAAGGAGCATAATTTACACTTGTGTAACCCAAAGGAATGACCAAGCCTGTGCTTCTCTCCCCAGATAGC... | GGTTACAGGAGTGTGCCACTGCACCTGGCCATTATTATGGAAAATTTTAGGCGTATACAAAAGTAGAGACAGTGGTGTCTTACATGCTCATGAACCCATGATCCAGTGACATCCGTTAATGGCATTTTGGAATCATATTTCATCTGTTTTTGTCCTCAAATGTTTTGAAGCAAATTTCAGCATTACATCATTTCACTCTTAAATATCTCAGTATGGTTCTCTAATAGTTGAAGACTCCATTTACATTTATATAAGGAGCATAATTTACACTTGTGTAACCCAAAGGAATGACCAAGCCTGTGCTTCTCTCCCCAGATAGC... |
Task1_train_7110 | A variant on Chromosome 3 in gene FLNB (filamin B) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | AGTGTGCCACTGCACCTGGCCATTATTATGGAAAATTTTAGGCGTATACAAAAGTAGAGACAGTGGTGTCTTACATGCTCATGAACCCATGATCCAGTGACATCCGTTAATGGCATTTTGGAATCATATTTCATCTGTTTTTGTCCTCAAATGTTTTGAAGCAAATTTCAGCATTACATCATTTCACTCTTAAATATCTCAGTATGGTTCTCTAATAGTTGAAGACTCCATTTACATTTATATAAGGAGCATAATTTACACTTGTGTAACCCAAAGGAATGACCAAGCCTGTGCTTCTCTCCCCAGATAGCAAAGCCATT... | AGTGTGCCACTGCACCTGGCCATTATTATGGAAAATTTTAGGCGTATACAAAAGTAGAGACAGTGGTGTCTTACATGCTCATGAACCCATGATCCAGTGACATCCGTTAATGGCATTTTGGAATCATATTTCATCTGTTTTTGTCCTCAAATGTTTTGAAGCAAATTTCAGCATTACATCATTTCACTCTTAAATATCTCAGTATGGTTCTCTAATAGTTGAAGACTCCATTTACATTTATATAAGGAGCATAATTTACACTTGTGTAACCCAAAGGAATGACCAAGCCTGTGCTTCTCTCCCCAGATAGCAAAGCCATT... |
Task1_train_7111 | This variant impacts the gene FLNB (filamin B) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | ATCACCCATAATCCTATCACAGGAATATAACAAGAGAACTCAGAAATCAAATAAGTCTTGGATACCATCTACAGTAGTCACATTGCTTAGTTGAAGTCTGATCTTCCTAGCTGGGAGGAAAACCAGTGTTTTCTTTCCAGAAACTCCCTCTAACAGTTAGGCACCATGAGTCCCGTGTCCAAAGGCTAGCCAGGGAAGATTGCAGGTAGCCAGTGCCATGGGACTGATGGCGTCACTATAGGCTGCATTGAGGTCTGAGTTCAGTGTATTTTGTAACAGGGTCCCTTGGAAGGTAGAACAACATGCCTGTTTCTTTGGTT... | ATCACCCATAATCCTATCACAGGAATATAACAAGAGAACTCAGAAATCAAATAAGTCTTGGATACCATCTACAGTAGTCACATTGCTTAGTTGAAGTCTGATCTTCCTAGCTGGGAGGAAAACCAGTGTTTTCTTTCCAGAAACTCCCTCTAACAGTTAGGCACCATGAGTCCCGTGTCCAAAGGCTAGCCAGGGAAGATTGCAGGTAGCCAGTGCCATGGGACTGATGGCGTCACTATAGGCTGCATTGAGGTCTGAGTTCAGTGTATTTTGTAACAGGGTCCCTTGGAAGGTAGAACAACATGCCTGTTTCTTTGGTT... |
Task1_train_7112 | This is a variant in FLNB (filamin B), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Boomerang dysplasia | ATATAACAAGAGAACTCAGAAATCAAATAAGTCTTGGATACCATCTACAGTAGTCACATTGCTTAGTTGAAGTCTGATCTTCCTAGCTGGGAGGAAAACCAGTGTTTTCTTTCCAGAAACTCCCTCTAACAGTTAGGCACCATGAGTCCCGTGTCCAAAGGCTAGCCAGGGAAGATTGCAGGTAGCCAGTGCCATGGGACTGATGGCGTCACTATAGGCTGCATTGAGGTCTGAGTTCAGTGTATTTTGTAACAGGGTCCCTTGGAAGGTAGAACAACATGCCTGTTTCTTTGGTTTGGTTTTGGAGTCATGTCTCTCCT... | ATATAACAAGAGAACTCAGAAATCAAATAAGTCTTGGATACCATCTACAGTAGTCACATTGCTTAGTTGAAGTCTGATCTTCCTAGCTGGGAGGAAAACCAGTGTTTTCTTTCCAGAAACTCCCTCTAACAGTTAGGCACCATGAGTCCCGTGTCCAAAGGCTAGCCAGGGAAGATTGCAGGTAGCCAGTGCCATGGGACTGATGGCGTCACTATAGGCTGCATTGAGGTCTGAGTTCAGTGTATTTTGTAACAGGGTCCCTTGGAAGGTAGAACAACATGCCTGTTTCTTTGGTTTGGTTTTGGAGTCATGTCTCTCCT... |
Task1_train_7113 | Here is a variant affecting FLNB (filamin B) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Larsen syndrome | GTTTAAGTTTCTTGCTTCATATTCTCTCTTACCTAGAGAGTGCCAGCCTGACACTGGACACTGGAGAGTCCTGACTCTGTTATGCCTCTGTGCTGCATGGTTTTGTTTCTGTGACTTCAAGCAGTTTCTCTCTAGGGGCGTTGTGCAAGAGGGACAGGAGCTCGCCAGCACCTTCAGTGTTTCCGACCTGGCAGCTCCTGCAGAACCCCTGCTGACACAGCATGCTCCTTACTCACACCCGGCACCTTTTCTAACTGTTGCCCACCTTCCCTCCTAGGCACAAGTGACCCCTGACAGTGACAAGAACAAGACATACTCTG... | GTTTAAGTTTCTTGCTTCATATTCTCTCTTACCTAGAGAGTGCCAGCCTGACACTGGACACTGGAGAGTCCTGACTCTGTTATGCCTCTGTGCTGCATGGTTTTGTTTCTGTGACTTCAAGCAGTTTCTCTCTAGGGGCGTTGTGCAAGAGGGACAGGAGCTCGCCAGCACCTTCAGTGTTTCCGACCTGGCAGCTCCTGCAGAACCCCTGCTGACACAGCATGCTCCTTACTCACACCCGGCACCTTTTCTAACTGTTGCCCACCTTCCCTCCTAGGCACAAGTGACCCCTGACAGTGACAAGAACAAGACATACTCTG... |
Task1_train_7114 | A mutation on Chromosome 3 affecting FLNB (filamin B) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | GGGGTAAATGTGTTTAACCCTGTGTTTCCCAAACTAATTTGTGAACTCTTCCTCCCCAAACTACTTGTATCCCTTGGAACAGAGGTCCCCAACCCTTGGAGCGTGGACTGGTGTGGGTGCACGGCATGTTAGGAATTGGGCCGCACGGTGGTGGGTGAGCCATCATTACTGCCTGAGCCCTGCCTCCTGTCAGATCAGCAGCTGCATTAGATTCTCATAGGAGTGCGAACCCTATTGTGAACTGCACATGAGAAGGATCTAGATTGCACACTCCTTGTGAGAATCTAACTAGTGCCTGATGATCTGAGGTGGAACAGTTT... | GGGGTAAATGTGTTTAACCCTGTGTTTCCCAAACTAATTTGTGAACTCTTCCTCCCCAAACTACTTGTATCCCTTGGAACAGAGGTCCCCAACCCTTGGAGCGTGGACTGGTGTGGGTGCACGGCATGTTAGGAATTGGGCCGCACGGTGGTGGGTGAGCCATCATTACTGCCTGAGCCCTGCCTCCTGTCAGATCAGCAGCTGCATTAGATTCTCATAGGAGTGCGAACCCTATTGTGAACTGCACATGAGAAGGATCTAGATTGCACACTCCTTGTGAGAATCTAACTAGTGCCTGATGATCTGAGGTGGAACAGTTT... |
Task1_train_7115 | Here is a mutation in FLNB (filamin B) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Larsen syndrome | CCTGTGTTTCCCAAACTAATTTGTGAACTCTTCCTCCCCAAACTACTTGTATCCCTTGGAACAGAGGTCCCCAACCCTTGGAGCGTGGACTGGTGTGGGTGCACGGCATGTTAGGAATTGGGCCGCACGGTGGTGGGTGAGCCATCATTACTGCCTGAGCCCTGCCTCCTGTCAGATCAGCAGCTGCATTAGATTCTCATAGGAGTGCGAACCCTATTGTGAACTGCACATGAGAAGGATCTAGATTGCACACTCCTTGTGAGAATCTAACTAGTGCCTGATGATCTGAGGTGGAACAGTTTTATCCTGAAAGCATTCCC... | CCTGTGTTTCCCAAACTAATTTGTGAACTCTTCCTCCCCAAACTACTTGTATCCCTTGGAACAGAGGTCCCCAACCCTTGGAGCGTGGACTGGTGTGGGTGCACGGCATGTTAGGAATTGGGCCGCACGGTGGTGGGTGAGCCATCATTACTGCCTGAGCCCTGCCTCCTGTCAGATCAGCAGCTGCATTAGATTCTCATAGGAGTGCGAACCCTATTGTGAACTGCACATGAGAAGGATCTAGATTGCACACTCCTTGTGAGAATCTAACTAGTGCCTGATGATCTGAGGTGGAACAGTTTTATCCTGAAAGCATTCCC... |
Task1_train_7116 | Given this context: Chromosome 3, gene FLNB (filamin B) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Atelosteogenesis type I | TCCCTTGGAACAGAGGTCCCCAACCCTTGGAGCGTGGACTGGTGTGGGTGCACGGCATGTTAGGAATTGGGCCGCACGGTGGTGGGTGAGCCATCATTACTGCCTGAGCCCTGCCTCCTGTCAGATCAGCAGCTGCATTAGATTCTCATAGGAGTGCGAACCCTATTGTGAACTGCACATGAGAAGGATCTAGATTGCACACTCCTTGTGAGAATCTAACTAGTGCCTGATGATCTGAGGTGGAACAGTTTTATCCTGAAAGCATTCCCCCACCAGGCCCCCTGGTCTTCTACGAAACCAGTCCCTAGTGCCAAAAAGGT... | TCCCTTGGAACAGAGGTCCCCAACCCTTGGAGCGTGGACTGGTGTGGGTGCACGGCATGTTAGGAATTGGGCCGCACGGTGGTGGGTGAGCCATCATTACTGCCTGAGCCCTGCCTCCTGTCAGATCAGCAGCTGCATTAGATTCTCATAGGAGTGCGAACCCTATTGTGAACTGCACATGAGAAGGATCTAGATTGCACACTCCTTGTGAGAATCTAACTAGTGCCTGATGATCTGAGGTGGAACAGTTTTATCCTGAAAGCATTCCCCCACCAGGCCCCCTGGTCTTCTACGAAACCAGTCCCTAGTGCCAAAAAGGT... |
Task1_train_7117 | Given this variant in gene FLNB (filamin B) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Larsen syndrome | ATAGATTGAAGCTCTTTGTTTTTATTTGGAGAACATTTAGATCCAAGAAGCTCTTCTAAGGAACAGAGACTGTTTTACAGGGTTACTGCAAAGATTAGATGAGGTCAGGCATGAAAAATGCTTAGCACAGTGCTAGGTACATGATAACTATTATTATATGCTTTTGAAATGTTGAGAACCCAACTCTGATGGCGGCTCCCATGAAAAGCAGCACATTTCTGCCTTTTATGAGTAGATAGTTACTCAGGATTCATTCAAGAGCATTTCAGGTCAGCATTAGAGAAACACATTTAAGGATCTAGGTTTTTTTCATCATGCAT... | ATAGATTGAAGCTCTTTGTTTTTATTTGGAGAACATTTAGATCCAAGAAGCTCTTCTAAGGAACAGAGACTGTTTTACAGGGTTACTGCAAAGATTAGATGAGGTCAGGCATGAAAAATGCTTAGCACAGTGCTAGGTACATGATAACTATTATTATATGCTTTTGAAATGTTGAGAACCCAACTCTGATGGCGGCTCCCATGAAAAGCAGCACATTTCTGCCTTTTATGAGTAGATAGTTACTCAGGATTCATTCAAGAGCATTTCAGGTCAGCATTAGAGAAACACATTTAAGGATCTAGGTTTTTTTCATCATGCAT... |
Task1_train_7118 | This is a variant in FLNB (filamin B), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Boomerang dysplasia | ATAACTATTATTATATGCTTTTGAAATGTTGAGAACCCAACTCTGATGGCGGCTCCCATGAAAAGCAGCACATTTCTGCCTTTTATGAGTAGATAGTTACTCAGGATTCATTCAAGAGCATTTCAGGTCAGCATTAGAGAAACACATTTAAGGATCTAGGTTTTTTTCATCATGCATATGTAAACCTCTCAGGAATTCTCCATGAATATTTGAGCATCACAGTTTCTTTGGTTTCTTTCTTTTTTTTTCCCCTCCTTTTTCCTTCAGTTTCTAAGACACAACTATTGACTGTCACAGGCCATTCTTTTTTTTTTTTTTTT... | ATAACTATTATTATATGCTTTTGAAATGTTGAGAACCCAACTCTGATGGCGGCTCCCATGAAAAGCAGCACATTTCTGCCTTTTATGAGTAGATAGTTACTCAGGATTCATTCAAGAGCATTTCAGGTCAGCATTAGAGAAACACATTTAAGGATCTAGGTTTTTTTCATCATGCATATGTAAACCTCTCAGGAATTCTCCATGAATATTTGAGCATCACAGTTTCTTTGGTTTCTTTCTTTTTTTTTCCCCTCCTTTTTCCTTCAGTTTCTAAGACACAACTATTGACTGTCACAGGCCATTCTTTTTTTTTTTTTTTT... |
Task1_train_7119 | A variant has been detected on Chromosome 3 in FLNB (filamin B). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Atelosteogenesis type I | ATAACTATTATTATATGCTTTTGAAATGTTGAGAACCCAACTCTGATGGCGGCTCCCATGAAAAGCAGCACATTTCTGCCTTTTATGAGTAGATAGTTACTCAGGATTCATTCAAGAGCATTTCAGGTCAGCATTAGAGAAACACATTTAAGGATCTAGGTTTTTTTCATCATGCATATGTAAACCTCTCAGGAATTCTCCATGAATATTTGAGCATCACAGTTTCTTTGGTTTCTTTCTTTTTTTTTCCCCTCCTTTTTCCTTCAGTTTCTAAGACACAACTATTGACTGTCACAGGCCATTCTTTTTTTTTTTTTTTT... | ATAACTATTATTATATGCTTTTGAAATGTTGAGAACCCAACTCTGATGGCGGCTCCCATGAAAAGCAGCACATTTCTGCCTTTTATGAGTAGATAGTTACTCAGGATTCATTCAAGAGCATTTCAGGTCAGCATTAGAGAAACACATTTAAGGATCTAGGTTTTTTTCATCATGCATATGTAAACCTCTCAGGAATTCTCCATGAATATTTGAGCATCACAGTTTCTTTGGTTTCTTTCTTTTTTTTTCCCCTCCTTTTTCCTTCAGTTTCTAAGACACAACTATTGACTGTCACAGGCCATTCTTTTTTTTTTTTTTTT... |
Task1_train_7120 | The gene FLNB (filamin B) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Atelosteogenesis type III | ATAACTATTATTATATGCTTTTGAAATGTTGAGAACCCAACTCTGATGGCGGCTCCCATGAAAAGCAGCACATTTCTGCCTTTTATGAGTAGATAGTTACTCAGGATTCATTCAAGAGCATTTCAGGTCAGCATTAGAGAAACACATTTAAGGATCTAGGTTTTTTTCATCATGCATATGTAAACCTCTCAGGAATTCTCCATGAATATTTGAGCATCACAGTTTCTTTGGTTTCTTTCTTTTTTTTTCCCCTCCTTTTTCCTTCAGTTTCTAAGACACAACTATTGACTGTCACAGGCCATTCTTTTTTTTTTTTTTTT... | ATAACTATTATTATATGCTTTTGAAATGTTGAGAACCCAACTCTGATGGCGGCTCCCATGAAAAGCAGCACATTTCTGCCTTTTATGAGTAGATAGTTACTCAGGATTCATTCAAGAGCATTTCAGGTCAGCATTAGAGAAACACATTTAAGGATCTAGGTTTTTTTCATCATGCATATGTAAACCTCTCAGGAATTCTCCATGAATATTTGAGCATCACAGTTTCTTTGGTTTCTTTCTTTTTTTTTCCCCTCCTTTTTCCTTCAGTTTCTAAGACACAACTATTGACTGTCACAGGCCATTCTTTTTTTTTTTTTTTT... |
Task1_train_7121 | A variant was discovered in gene FLNB (filamin B), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Larsen syndrome | ATAACTATTATTATATGCTTTTGAAATGTTGAGAACCCAACTCTGATGGCGGCTCCCATGAAAAGCAGCACATTTCTGCCTTTTATGAGTAGATAGTTACTCAGGATTCATTCAAGAGCATTTCAGGTCAGCATTAGAGAAACACATTTAAGGATCTAGGTTTTTTTCATCATGCATATGTAAACCTCTCAGGAATTCTCCATGAATATTTGAGCATCACAGTTTCTTTGGTTTCTTTCTTTTTTTTTCCCCTCCTTTTTCCTTCAGTTTCTAAGACACAACTATTGACTGTCACAGGCCATTCTTTTTTTTTTTTTTTT... | ATAACTATTATTATATGCTTTTGAAATGTTGAGAACCCAACTCTGATGGCGGCTCCCATGAAAAGCAGCACATTTCTGCCTTTTATGAGTAGATAGTTACTCAGGATTCATTCAAGAGCATTTCAGGTCAGCATTAGAGAAACACATTTAAGGATCTAGGTTTTTTTCATCATGCATATGTAAACCTCTCAGGAATTCTCCATGAATATTTGAGCATCACAGTTTCTTTGGTTTCTTTCTTTTTTTTTCCCCTCCTTTTTCCTTCAGTTTCTAAGACACAACTATTGACTGTCACAGGCCATTCTTTTTTTTTTTTTTTT... |
Task1_train_7122 | This mutation is located in gene FLNB (filamin B) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Spondylocarpotarsal synostosis syndrome | ATAACTATTATTATATGCTTTTGAAATGTTGAGAACCCAACTCTGATGGCGGCTCCCATGAAAAGCAGCACATTTCTGCCTTTTATGAGTAGATAGTTACTCAGGATTCATTCAAGAGCATTTCAGGTCAGCATTAGAGAAACACATTTAAGGATCTAGGTTTTTTTCATCATGCATATGTAAACCTCTCAGGAATTCTCCATGAATATTTGAGCATCACAGTTTCTTTGGTTTCTTTCTTTTTTTTTCCCCTCCTTTTTCCTTCAGTTTCTAAGACACAACTATTGACTGTCACAGGCCATTCTTTTTTTTTTTTTTTT... | ATAACTATTATTATATGCTTTTGAAATGTTGAGAACCCAACTCTGATGGCGGCTCCCATGAAAAGCAGCACATTTCTGCCTTTTATGAGTAGATAGTTACTCAGGATTCATTCAAGAGCATTTCAGGTCAGCATTAGAGAAACACATTTAAGGATCTAGGTTTTTTTCATCATGCATATGTAAACCTCTCAGGAATTCTCCATGAATATTTGAGCATCACAGTTTCTTTGGTTTCTTTCTTTTTTTTTCCCCTCCTTTTTCCTTCAGTTTCTAAGACACAACTATTGACTGTCACAGGCCATTCTTTTTTTTTTTTTTTT... |
Task1_train_7123 | This alteration in FLNB (filamin B) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Larsen syndrome | ATAACTATTATTATATGCTTTTGAAATGTTGAGAACCCAACTCTGATGGCGGCTCCCATGAAAAGCAGCACATTTCTGCCTTTTATGAGTAGATAGTTACTCAGGATTCATTCAAGAGCATTTCAGGTCAGCATTAGAGAAACACATTTAAGGATCTAGGTTTTTTTCATCATGCATATGTAAACCTCTCAGGAATTCTCCATGAATATTTGAGCATCACAGTTTCTTTGGTTTCTTTCTTTTTTTTTCCCCTCCTTTTTCCTTCAGTTTCTAAGACACAACTATTGACTGTCACAGGCCATTCTTTTTTTTTTTTTTTT... | ATAACTATTATTATATGCTTTTGAAATGTTGAGAACCCAACTCTGATGGCGGCTCCCATGAAAAGCAGCACATTTCTGCCTTTTATGAGTAGATAGTTACTCAGGATTCATTCAAGAGCATTTCAGGTCAGCATTAGAGAAACACATTTAAGGATCTAGGTTTTTTTCATCATGCATATGTAAACCTCTCAGGAATTCTCCATGAATATTTGAGCATCACAGTTTCTTTGGTTTCTTTCTTTTTTTTTCCCCTCCTTTTTCCTTCAGTTTCTAAGACACAACTATTGACTGTCACAGGCCATTCTTTTTTTTTTTTTTTT... |
Task1_train_7124 | This mutation occurs in FLNB (filamin B) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Larsen syndrome | GTGTGGGCTGGAGGCTTGGGGCCAGGTCAGAGGTGGAAGAAGAGGACCAGCAGCCCTGGAAGAAGAGGACCAGCAGCCCTCTACAAGGGAAGCCAGCCCAGGTTTCATGGGTCACCAACCAGCACAGTGTCACCAGTTCATTCTTTCTTTTTGTAGTTGTATTTGTTTTTTAATTTAGTATTTTGAATAGGTAACACATTCTCATGGTTCAAAAATAAAAATGATACGAAGAAAGTTTTCCTTCCTACCCCTCTCCTTGAACTAGACTATCATAAATTTTTTTATGTTCGATTTCAGAGTTTCAGGGTTTTATTTTTTAT... | GTGTGGGCTGGAGGCTTGGGGCCAGGTCAGAGGTGGAAGAAGAGGACCAGCAGCCCTGGAAGAAGAGGACCAGCAGCCCTCTACAAGGGAAGCCAGCCCAGGTTTCATGGGTCACCAACCAGCACAGTGTCACCAGTTCATTCTTTCTTTTTGTAGTTGTATTTGTTTTTTAATTTAGTATTTTGAATAGGTAACACATTCTCATGGTTCAAAAATAAAAATGATACGAAGAAAGTTTTCCTTCCTACCCCTCTCCTTGAACTAGACTATCATAAATTTTTTTATGTTCGATTTCAGAGTTTCAGGGTTTTATTTTTTAT... |
Task1_train_7125 | Gene PDHB (pyruvate dehydrogenase E1 subunit beta) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Pyruvate dehydrogenase E1-beta deficiency | AGCTTGACAAGATATTTCAAATGAGAACTTTTTGTAGCGTCTGTTGTTAGCAAAGAATAGATTCACACAGTCTAAGGTTTCCTTCCTACCTATCCTGTCTCTTATTCTTTTGTGTCTCACTTTTCCTCTAAGAACTAAAAATCCTGCCTTGCTACTTAAATTAGGTACCACCTATATGCTTCTCTAACTAATTTAAACCCATCTTTTCCATCTCAGCTTCTGGAGGGCAGTATTTGACAGAATATCTGATCTTTGGAAATGGGAAAAACAACTGATATAAACTTTGCCATAATTTTAAAGAGAATGCTATTAGAATTAGG... | AGCTTGACAAGATATTTCAAATGAGAACTTTTTGTAGCGTCTGTTGTTAGCAAAGAATAGATTCACACAGTCTAAGGTTTCCTTCCTACCTATCCTGTCTCTTATTCTTTTGTGTCTCACTTTTCCTCTAAGAACTAAAAATCCTGCCTTGCTACTTAAATTAGGTACCACCTATATGCTTCTCTAACTAATTTAAACCCATCTTTTCCATCTCAGCTTCTGGAGGGCAGTATTTGACAGAATATCTGATCTTTGGAAATGGGAAAAACAACTGATATAAACTTTGCCATAATTTTAAAGAGAATGCTATTAGAATTAGG... |
Task1_train_7126 | A variant has been detected on Chromosome 3 in PDHB (pyruvate dehydrogenase E1 subunit beta). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not specified | TTCTGAAGTCAGTTTTGCTGACTATTCTGGATAGTTCAGATATATGAATACAAACAGGTAATGGTCTTGTACAGTATCAGCTTATTTTCCACATGGAACTAATTTCTTTTGTTGTTATTTTTAAGACAGGGTTTCGCTCTTTCACTCAGGCTGGAGTGCAGTGACCCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGGCTCAAGCAATCCTCCTATAGGCACACCACCAGATACCTGGGTTTTTTGTTTTGTTTTTTTTGTTTTGTTTTTGTAGGCAGGGTTTTTGCAACGTTGCCCCAGGCTGGTCTCAAACTCCT... | TTCTGAAGTCAGTTTTGCTGACTATTCTGGATAGTTCAGATATATGAATACAAACAGGTAATGGTCTTGTACAGTATCAGCTTATTTTCCACATGGAACTAATTTCTTTTGTTGTTATTTTTAAGACAGGGTTTCGCTCTTTCACTCAGGCTGGAGTGCAGTGACCCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGGCTCAAGCAATCCTCCTATAGGCACACCACCAGATACCTGGGTTTTTTGTTTTGTTTTTTTTGTTTTGTTTTTGTAGGCAGGGTTTTTGCAACGTTGCCCCAGGCTGGTCTCAAACTCCT... |
Task1_train_7127 | The variant affects gene PDHB (pyruvate dehydrogenase E1 subunit beta), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Pyruvate dehydrogenase E1-beta deficiency | TTAATCTTTGTATCTAGGAAAATCTAATCTGCCTATGAATACCTATTCATGAATGTACAAACTGTAAAAGGAAAAATTTTAATTAAAACAAAGATCTGTATGTCTACCACAAGCAGCTCTGTGCAGTTATAGGATTCATTTATCTTCCTTCACTTTTTTATTTCTTTTGGGATGGAGTTTTGCTCTTGTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCCACCCCCGCCTTCCCAGTTCAAGCCATTTTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCATAGACCACCACGCCTAGCTAATT... | TTAATCTTTGTATCTAGGAAAATCTAATCTGCCTATGAATACCTATTCATGAATGTACAAACTGTAAAAGGAAAAATTTTAATTAAAACAAAGATCTGTATGTCTACCACAAGCAGCTCTGTGCAGTTATAGGATTCATTTATCTTCCTTCACTTTTTTATTTCTTTTGGGATGGAGTTTTGCTCTTGTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCCACCCCCGCCTTCCCAGTTCAAGCCATTTTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCATAGACCACCACGCCTAGCTAATT... |
Task1_train_7128 | Here’s a variant in PDHB (pyruvate dehydrogenase E1 subunit beta) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Pyruvate dehydrogenase E1-beta deficiency | ATGTCTACCACAAGCAGCTCTGTGCAGTTATAGGATTCATTTATCTTCCTTCACTTTTTTATTTCTTTTGGGATGGAGTTTTGCTCTTGTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCCACCCCCGCCTTCCCAGTTCAAGCCATTTTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCATAGACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCCACCACGCCCAGCCAATCCTCCTTCA... | ATGTCTACCACAAGCAGCTCTGTGCAGTTATAGGATTCATTTATCTTCCTTCACTTTTTTATTTCTTTTGGGATGGAGTTTTGCTCTTGTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCCACCCCCGCCTTCCCAGTTCAAGCCATTTTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCATAGACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCCACCACGCCCAGCCAATCCTCCTTCA... |
Task1_train_7129 | This genomic variant is located on Chromosome 3, within the PDHB (pyruvate dehydrogenase E1 subunit beta) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Pyruvate dehydrogenase E1-beta deficiency | CTTGTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCCACCCCCGCCTTCCCAGTTCAAGCCATTTTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCATAGACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCCACCACGCCCAGCCAATCCTCCTTCACTTTAAATTCCCTCATCAAAATGAGTTAACAGTTAACAGCTGAGTGCCCATCATGTACCAAGCACTACACTAAGTGTAATTCTCA... | CTTGTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCCACCCCCGCCTTCCCAGTTCAAGCCATTTTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCATAGACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCCACCACGCCCAGCCAATCCTCCTTCACTTTAAATTCCCTCATCAAAATGAGTTAACAGTTAACAGCTGAGTGCCCATCATGTACCAAGCACTACACTAAGTGTAATTCTCA... |
Task1_train_7130 | The gene PDHB (pyruvate dehydrogenase E1 subunit beta) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Pyruvate dehydrogenase E1-beta deficiency | CTAAGTATGTGAACTGCAGGCAGGTTCCCAGCTTTAAGCAGAGACAGAAATGAGTGACAAAGCAAGGTTTTACATCTAATTAACCTGTTACAGAACTCTTCTGGGTCTTAAATCTAAAAGGAGCCCTTCTAATTCTTTAAGAACAAGTAAATGTCCACTCACCTCACATTCAACTCCTTCTTTAGATAGCACTGCTGCAGCTTCTAAGCAGTGGCCCACAGGTCTTGAATGGGAAACCACAGTTATATGTGTTCCTGAAAACAGAGTGGTCACAGATCAGAGATCAGGTTGAAACTGAAGATGCTACACCACTGTGCCGC... | CTAAGTATGTGAACTGCAGGCAGGTTCCCAGCTTTAAGCAGAGACAGAAATGAGTGACAAAGCAAGGTTTTACATCTAATTAACCTGTTACAGAACTCTTCTGGGTCTTAAATCTAAAAGGAGCCCTTCTAATTCTTTAAGAACAAGTAAATGTCCACTCACCTCACATTCAACTCCTTCTTTAGATAGCACTGCTGCAGCTTCTAAGCAGTGGCCCACAGGTCTTGAATGGGAAACCACAGTTATATGTGTTCCTGAAAACAGAGTGGTCACAGATCAGAGATCAGGTTGAAACTGAAGATGCTACACCACTGTGCCGC... |
Task1_train_7131 | The gene PDHB (pyruvate dehydrogenase E1 subunit beta) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Pyruvate dehydrogenase E1-beta deficiency | TAAGTATGTGAACTGCAGGCAGGTTCCCAGCTTTAAGCAGAGACAGAAATGAGTGACAAAGCAAGGTTTTACATCTAATTAACCTGTTACAGAACTCTTCTGGGTCTTAAATCTAAAAGGAGCCCTTCTAATTCTTTAAGAACAAGTAAATGTCCACTCACCTCACATTCAACTCCTTCTTTAGATAGCACTGCTGCAGCTTCTAAGCAGTGGCCCACAGGTCTTGAATGGGAAACCACAGTTATATGTGTTCCTGAAAACAGAGTGGTCACAGATCAGAGATCAGGTTGAAACTGAAGATGCTACACCACTGTGCCGCC... | TAAGTATGTGAACTGCAGGCAGGTTCCCAGCTTTAAGCAGAGACAGAAATGAGTGACAAAGCAAGGTTTTACATCTAATTAACCTGTTACAGAACTCTTCTGGGTCTTAAATCTAAAAGGAGCCCTTCTAATTCTTTAAGAACAAGTAAATGTCCACTCACCTCACATTCAACTCCTTCTTTAGATAGCACTGCTGCAGCTTCTAAGCAGTGGCCCACAGGTCTTGAATGGGAAACCACAGTTATATGTGTTCCTGAAAACAGAGTGGTCACAGATCAGAGATCAGGTTGAAACTGAAGATGCTACACCACTGTGCCGCC... |
Task1_train_7132 | Assess the clinical impact of this variant on gene PDHB (pyruvate dehydrogenase E1 subunit beta), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Pyruvate dehydrogenase E1-beta deficiency | GTCTCCATATTTCTTCCACAGCCCTCGACTAACCTACAATTAAGAGTTGATCCCTTAAGTGTATCTGGGGGTAACAGTGACCTCAATTTTGTATAACTTTCATATATTTTAGTTACCTTGTATGCCCCATCATACTGGGCAACTTCTTCTCCAAGCAGAAATACCTTCTCATCTCTTTCCAGCTCCTCATCCATACCCTGATTTATAGCATCACGAACTGTCACCTGTCACAGGTATGCAAAAACAGTCAATACAGAATTGTTTGGGATTCAACTAAGATTTTCTTCCTTTATATTTACCTAGGCTGCCCACAGCATACA... | GTCTCCATATTTCTTCCACAGCCCTCGACTAACCTACAATTAAGAGTTGATCCCTTAAGTGTATCTGGGGGTAACAGTGACCTCAATTTTGTATAACTTTCATATATTTTAGTTACCTTGTATGCCCCATCATACTGGGCAACTTCTTCTCCAAGCAGAAATACCTTCTCATCTCTTTCCAGCTCCTCATCCATACCCTGATTTATAGCATCACGAACTGTCACCTGTCACAGGTATGCAAAAACAGTCAATACAGAATTGTTTGGGATTCAACTAAGATTTTCTTCCTTTATATTTACCTAGGCTGCCCACAGCATACA... |
Task1_train_7133 | With a mutation on Chromosome 3 in gene SLC25A26 (solute carrier family 25 member 26), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Combined oxidative phosphorylation deficiency 28 | GCTTTTGTATTTATGTACTTCCTTTTATTGTTCATTCTTCCCACTGTGCCCTTTCCACCTTTCTTGCCAGCTCATTCCGGCTCATCCAGAAGGTTCTATAATGGTGTAATCTTGGGCAGTTTCTCTGAATCTGGGGGTTGGACTAAATACCCCTCCTCCACATTTCCCATAATCTTTGTCCATGCGCCCCACCCCCCTTTTGGCCATGTTTTATTGAAATTATTTATATGTATTTGCGGGTTCTTTGAAGCCAGGGCATCATCTTAGTCTTCTTTATCATGGAGTGGCTTGTGTGGTATCTGGCTCCATATGTATTTCTT... | GCTTTTGTATTTATGTACTTCCTTTTATTGTTCATTCTTCCCACTGTGCCCTTTCCACCTTTCTTGCCAGCTCATTCCGGCTCATCCAGAAGGTTCTATAATGGTGTAATCTTGGGCAGTTTCTCTGAATCTGGGGGTTGGACTAAATACCCCTCCTCCACATTTCCCATAATCTTTGTCCATGCGCCCCACCCCCCTTTTGGCCATGTTTTATTGAAATTATTTATATGTATTTGCGGGTTCTTTGAAGCCAGGGCATCATCTTAGTCTTCTTTATCATGGAGTGGCTTGTGTGGTATCTGGCTCCATATGTATTTCTT... |
Task1_train_7134 | A variant affecting Chromosome 3, within the gene SLC25A26 (solute carrier family 25 member 26), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Combined oxidative phosphorylation deficiency 28 | GGCAGAGTTCCTTTGGGTTTGACTAATTCTTTATTGTTTCTATTTCTGAAAATAAGTAAATTACCTTAATATAGGGTAAGGTAAAATCCTGGCAGTGTGGATTTGAGATGACATATACCCGGCCTCAGCATGTCACCAAGGGTGATATTAGAATCATATATTGGCTGGTAGCTGTGAGGATGACTCAAGTCTGCTGGAATGCTGGAGGAGAGTGTATGAGAGTGCTGGGAGTCCCTTTTCAGTTGCTGCATGATCAAGAGGTCTAGGGGCTGGAGTTGGTGAAGGGTGGAAGGCTGGGTACCAGCTGATGGTCAGCTTGC... | GGCAGAGTTCCTTTGGGTTTGACTAATTCTTTATTGTTTCTATTTCTGAAAATAAGTAAATTACCTTAATATAGGGTAAGGTAAAATCCTGGCAGTGTGGATTTGAGATGACATATACCCGGCCTCAGCATGTCACCAAGGGTGATATTAGAATCATATATTGGCTGGTAGCTGTGAGGATGACTCAAGTCTGCTGGAATGCTGGAGGAGAGTGTATGAGAGTGCTGGGAGTCCCTTTTCAGTTGCTGCATGATCAAGAGGTCTAGGGGCTGGAGTTGGTGAAGGGTGGAAGGCTGGGTACCAGCTGATGGTCAGCTTGC... |
Task1_train_7135 | Chromosome 3 houses a mutation in gene SLC25A26 (solute carrier family 25 member 26). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Combined oxidative phosphorylation deficiency 28 | AATAAGTAATTACCTAAGGCTAGACACCTGGTAGAACTGGGATTTAAGCGTTGGTCTTTCCAACTCCAAAGAAGGGTTCTTTCAGGCTAGACCGTGCTGCTGGTAAGGGAAACAAAACCAAATCTGTTATTTTGGTGTATGGGAAGTTTGGGATAGTAAAGTTTGTTGCCTTTGTGTCTTGTGTCTTTTTTCCTTTTCTTCCTTTCTTGGGGGAGATAGATAGATAGACAGACAGACAGACAGACAGACACAGAGAGAGAGAGAGAGAGAGAGAGACAGATAGTGTTCATGGATCCTGTTATGTAACTAAAAGTATATTT... | AATAAGTAATTACCTAAGGCTAGACACCTGGTAGAACTGGGATTTAAGCGTTGGTCTTTCCAACTCCAAAGAAGGGTTCTTTCAGGCTAGACCGTGCTGCTGGTAAGGGAAACAAAACCAAATCTGTTATTTTGGTGTATGGGAAGTTTGGGATAGTAAAGTTTGTTGCCTTTGTGTCTTGTGTCTTTTTTCCTTTTCTTCCTTTCTTGGGGGAGATAGATAGATAGACAGACAGACAGACAGACAGACACAGAGAGAGAGAGAGAGAGAGAGAGACAGATAGTGTTCATGGATCCTGTTATGTAACTAAAAGTATATTT... |
Task1_train_7136 | Given this variant in gene EOGT (EGF domain specific O-linked N-acetylglucosamine transferase) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Adams-Oliver syndrome 4 | GTAAAATATTTTACCCATCAAAACATGACACACACCACCTCCCCCCTCAACTTTCCTCTTACTGAATATTTTCCAGTTTGTTTCCACTTATCTGCTCAAGTTAAAAGCCTCAAGTCACACTTGATCCTTGATACCTTTCCTGGCCTTCTCTAATGTGAATGTACTTTTACATTCCAAAAGTAAGTATCATAGGTCCTATCTCCAAAATATGTCTTGAATGCATCTACCATGTCATCTCTACTGTCATCACTTTGGCTAAACACTCTCCCCTGGGCCACAATAACAACTTCTGATCAATCTCCTTGCAGAATGACTTAAAA... | GTAAAATATTTTACCCATCAAAACATGACACACACCACCTCCCCCCTCAACTTTCCTCTTACTGAATATTTTCCAGTTTGTTTCCACTTATCTGCTCAAGTTAAAAGCCTCAAGTCACACTTGATCCTTGATACCTTTCCTGGCCTTCTCTAATGTGAATGTACTTTTACATTCCAAAAGTAAGTATCATAGGTCCTATCTCCAAAATATGTCTTGAATGCATCTACCATGTCATCTCTACTGTCATCACTTTGGCTAAACACTCTCCCCTGGGCCACAATAACAACTTCTGATCAATCTCCTTGCAGAATGACTTAAAA... |
Task1_train_7137 | A mutation found in EOGT (EGF domain specific O-linked N-acetylglucosamine transferase) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Adams-Oliver syndrome 4 | TCATTTGTTATACAACAATAGGTAATAAATATAAATATACCCTAGGGTACACTTTGGAATAGCCTGTCACACAGCAATAAGCAACTAATACAATTATGCCCTGAGCAACTACCATGTGGAATCAAATATCAGAAAGTACCAGGAATCAAAAAGCCCACTTGAATATAGAAACTACCTCTTGTAAAAGTCTGCTAAGTGACTTGAGACATTGCATTGCAGACTGCAAAATCCCAGATAAATGTGTGGTAGATCATTATTCTGAATGATCTGCAGCCAGGCAGTGAGGCCTCTTTAAGGACAAAAAAAAAAAAGGTTTGCTC... | TCATTTGTTATACAACAATAGGTAATAAATATAAATATACCCTAGGGTACACTTTGGAATAGCCTGTCACACAGCAATAAGCAACTAATACAATTATGCCCTGAGCAACTACCATGTGGAATCAAATATCAGAAAGTACCAGGAATCAAAAAGCCCACTTGAATATAGAAACTACCTCTTGTAAAAGTCTGCTAAGTGACTTGAGACATTGCATTGCAGACTGCAAAATCCCAGATAAATGTGTGGTAGATCATTATTCTGAATGATCTGCAGCCAGGCAGTGAGGCCTCTTTAAGGACAAAAAAAAAAAAGGTTTGCTC... |
Task1_train_7138 | Given this variant in gene EOGT (EGF domain specific O-linked N-acetylglucosamine transferase) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Adams-Oliver syndrome 4 | TGCTTTCTGCAAACCGTAAAGCTTGTGGGAGCCTCTGTCTCAACAGCAACATGAGGGCAATATTTTCTAAATAATTGAAGAAAGGAGTCGAAGAGTCAGCTACCAGAGCCTGATTCTATTTCAACCAATCTGGGTTATGCTCAGAACTTCAAAAACTTTTATCTGCTCTGGGTTTTATTTATAGATTTAAATGCCATTTTAATTGTTTTTCCCAAAACTCCCAATGAACACAAAGTCTCAATCTTGACCTGCATGGTGTTTTGGAGTCTGTAGTTGGTAAAATATTGCAATGGACTGAATGTCCGTGTCTCTGCCAAATT... | TGCTTTCTGCAAACCGTAAAGCTTGTGGGAGCCTCTGTCTCAACAGCAACATGAGGGCAATATTTTCTAAATAATTGAAGAAAGGAGTCGAAGAGTCAGCTACCAGAGCCTGATTCTATTTCAACCAATCTGGGTTATGCTCAGAACTTCAAAAACTTTTATCTGCTCTGGGTTTTATTTATAGATTTAAATGCCATTTTAATTGTTTTTCCCAAAACTCCCAATGAACACAAAGTCTCAATCTTGACCTGCATGGTGTTTTGGAGTCTGTAGTTGGTAAAATATTGCAATGGACTGAATGTCCGTGTCTCTGCCAAATT... |
Task1_train_7139 | The variant affects gene LMOD3 (leiomodin 3), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Nemaline myopathy 10 | AAGGCAGAGGGGTGAAAAATTAAACCTACACTGTAAGCTCTGTGTGCGGTCGAGACTGAACCTGACTTACCACTATATCCCCAATCCTTCTCATCTGCCTGACATATATATTTGTTAGATTAACAAATAAGTGAATGGATAGAATGGAATTGACCCAGGAAAAATGGATTTGCTCAGCAGAGCACTCAGAAGTCAGGGAGTTGGTTCAGATGCTCTTCTGAACTTCATTCCCTCTTCTACTCCGAACTTACATGCCACCTTTGGCACAGATTTTTTCAAAAGACGTCTCATCATTCTTTTCAGACTGCTCTTTTCTGAAT... | AAGGCAGAGGGGTGAAAAATTAAACCTACACTGTAAGCTCTGTGTGCGGTCGAGACTGAACCTGACTTACCACTATATCCCCAATCCTTCTCATCTGCCTGACATATATATTTGTTAGATTAACAAATAAGTGAATGGATAGAATGGAATTGACCCAGGAAAAATGGATTTGCTCAGCAGAGCACTCAGAAGTCAGGGAGTTGGTTCAGATGCTCTTCTGAACTTCATTCCCTCTTCTACTCCGAACTTACATGCCACCTTTGGCACAGATTTTTTCAAAAGACGTCTCATCATTCTTTTCAGACTGCTCTTTTCTGAAT... |
Task1_train_7140 | This variant affects the gene LMOD3 (leiomodin 3) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Nemaline myopathy 10 | TAAACCTACACTGTAAGCTCTGTGTGCGGTCGAGACTGAACCTGACTTACCACTATATCCCCAATCCTTCTCATCTGCCTGACATATATATTTGTTAGATTAACAAATAAGTGAATGGATAGAATGGAATTGACCCAGGAAAAATGGATTTGCTCAGCAGAGCACTCAGAAGTCAGGGAGTTGGTTCAGATGCTCTTCTGAACTTCATTCCCTCTTCTACTCCGAACTTACATGCCACCTTTGGCACAGATTTTTTCAAAAGACGTCTCATCATTCTTTTCAGACTGCTCTTTTCTGAATGTACAGCCACCAAGGTGGCT... | TAAACCTACACTGTAAGCTCTGTGTGCGGTCGAGACTGAACCTGACTTACCACTATATCCCCAATCCTTCTCATCTGCCTGACATATATATTTGTTAGATTAACAAATAAGTGAATGGATAGAATGGAATTGACCCAGGAAAAATGGATTTGCTCAGCAGAGCACTCAGAAGTCAGGGAGTTGGTTCAGATGCTCTTCTGAACTTCATTCCCTCTTCTACTCCGAACTTACATGCCACCTTTGGCACAGATTTTTTCAAAAGACGTCTCATCATTCTTTTCAGACTGCTCTTTTCTGAATGTACAGCCACCAAGGTGGCT... |
Task1_train_7141 | Gene LMOD3 (leiomodin 3) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | CGATACATATGTGAAAGACTAGCAATTATTTCAGAATATCAAGCTCTTTAAAGCAGAAAAAGAGCAAGCATGCATAAAAATTCAACATGTTTTGAAAAAACATGAATCTGTGTAACAAAATAATATACAGACTATTCTGCCAACATAATCTCGTGGCTATATTACAGGAGATTTTAAAATAATATAGTTAATTATCAATCACCTGCGGCCTCTGAACACATCTTTCAACCTCAATAAACGCCATCATAATAATGACCAAAATATCTTCATTTCTGCAACTTAAGTTGCACGGAAAATAACTTTTCCACTCGGCAGTAATC... | CGATACATATGTGAAAGACTAGCAATTATTTCAGAATATCAAGCTCTTTAAAGCAGAAAAAGAGCAAGCATGCATAAAAATTCAACATGTTTTGAAAAAACATGAATCTGTGTAACAAAATAATATACAGACTATTCTGCCAACATAATCTCGTGGCTATATTACAGGAGATTTTAAAATAATATAGTTAATTATCAATCACCTGCGGCCTCTGAACACATCTTTCAACCTCAATAAACGCCATCATAATAATGACCAAAATATCTTCATTTCTGCAACTTAAGTTGCACGGAAAATAACTTTTCCACTCGGCAGTAATC... |
Task1_train_7142 | A variant was discovered on Chromosome 3, affecting MITF (melanocyte inducing transcription factor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | AACTGGCATTCTACCATGGTGAATTTTATGGCCCTTACCACACCCCTCTTTTTATTATTTGATCCTTGCATCCTGCAGGATTGGATGAACAGACTGAGAATATGGAATATGGATTTGGTACAGAGAATTCCTGTTCCAGTCAAGGATGTCTTAAAAAAATTTTTTTTAGAAAATAAGCAGGAGAAAGATGTTTTTTAAAAACCATGGATTTGAGTGAAAAGAGTAATTAATAAGTAAAAACCATCCAAAACCAAAACACAAGTAGCTACCCTACCAAAAAGGAAAATTACTGCAAGACAACAACAACAACAAAAGCAAGA... | AACTGGCATTCTACCATGGTGAATTTTATGGCCCTTACCACACCCCTCTTTTTATTATTTGATCCTTGCATCCTGCAGGATTGGATGAACAGACTGAGAATATGGAATATGGATTTGGTACAGAGAATTCCTGTTCCAGTCAAGGATGTCTTAAAAAAATTTTTTTTAGAAAATAAGCAGGAGAAAGATGTTTTTTAAAAACCATGGATTTGAGTGAAAAGAGTAATTAATAAGTAAAAACCATCCAAAACCAAAACACAAGTAGCTACCCTACCAAAAAGGAAAATTACTGCAAGACAACAACAACAACAAAAGCAAGA... |
Task1_train_7143 | Here is a mutation in MITF (melanocyte inducing transcription factor) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Waardenburg syndrome type 2A | AACTGGCATTCTACCATGGTGAATTTTATGGCCCTTACCACACCCCTCTTTTTATTATTTGATCCTTGCATCCTGCAGGATTGGATGAACAGACTGAGAATATGGAATATGGATTTGGTACAGAGAATTCCTGTTCCAGTCAAGGATGTCTTAAAAAAATTTTTTTTAGAAAATAAGCAGGAGAAAGATGTTTTTTAAAAACCATGGATTTGAGTGAAAAGAGTAATTAATAAGTAAAAACCATCCAAAACCAAAACACAAGTAGCTACCCTACCAAAAAGGAAAATTACTGCAAGACAACAACAACAACAAAAGCAAGA... | AACTGGCATTCTACCATGGTGAATTTTATGGCCCTTACCACACCCCTCTTTTTATTATTTGATCCTTGCATCCTGCAGGATTGGATGAACAGACTGAGAATATGGAATATGGATTTGGTACAGAGAATTCCTGTTCCAGTCAAGGATGTCTTAAAAAAATTTTTTTTAGAAAATAAGCAGGAGAAAGATGTTTTTTAAAAACCATGGATTTGAGTGAAAAGAGTAATTAATAAGTAAAAACCATCCAAAACCAAAACACAAGTAGCTACCCTACCAAAAAGGAAAATTACTGCAAGACAACAACAACAACAAAAGCAAGA... |
Task1_train_7144 | The gene MITF (melanocyte inducing transcription factor), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | TTCTACCATGGTGAATTTTATGGCCCTTACCACACCCCTCTTTTTATTATTTGATCCTTGCATCCTGCAGGATTGGATGAACAGACTGAGAATATGGAATATGGATTTGGTACAGAGAATTCCTGTTCCAGTCAAGGATGTCTTAAAAAAATTTTTTTTAGAAAATAAGCAGGAGAAAGATGTTTTTTAAAAACCATGGATTTGAGTGAAAAGAGTAATTAATAAGTAAAAACCATCCAAAACCAAAACACAAGTAGCTACCCTACCAAAAAGGAAAATTACTGCAAGACAACAACAACAACAAAAGCAAGAATCGTCGG... | TTCTACCATGGTGAATTTTATGGCCCTTACCACACCCCTCTTTTTATTATTTGATCCTTGCATCCTGCAGGATTGGATGAACAGACTGAGAATATGGAATATGGATTTGGTACAGAGAATTCCTGTTCCAGTCAAGGATGTCTTAAAAAAATTTTTTTTAGAAAATAAGCAGGAGAAAGATGTTTTTTAAAAACCATGGATTTGAGTGAAAAGAGTAATTAATAAGTAAAAACCATCCAAAACCAAAACACAAGTAGCTACCCTACCAAAAAGGAAAATTACTGCAAGACAACAACAACAACAAAAGCAAGAATCGTCGG... |
Task1_train_7145 | Chromosome 3 houses a mutation in gene MITF (melanocyte inducing transcription factor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Tietz syndrome | ACCATGGTGAATTTTATGGCCCTTACCACACCCCTCTTTTTATTATTTGATCCTTGCATCCTGCAGGATTGGATGAACAGACTGAGAATATGGAATATGGATTTGGTACAGAGAATTCCTGTTCCAGTCAAGGATGTCTTAAAAAAATTTTTTTTAGAAAATAAGCAGGAGAAAGATGTTTTTTAAAAACCATGGATTTGAGTGAAAAGAGTAATTAATAAGTAAAAACCATCCAAAACCAAAACACAAGTAGCTACCCTACCAAAAAGGAAAATTACTGCAAGACAACAACAACAACAAAAGCAAGAATCGTCGGGCAG... | ACCATGGTGAATTTTATGGCCCTTACCACACCCCTCTTTTTATTATTTGATCCTTGCATCCTGCAGGATTGGATGAACAGACTGAGAATATGGAATATGGATTTGGTACAGAGAATTCCTGTTCCAGTCAAGGATGTCTTAAAAAAATTTTTTTTAGAAAATAAGCAGGAGAAAGATGTTTTTTAAAAACCATGGATTTGAGTGAAAAGAGTAATTAATAAGTAAAAACCATCCAAAACCAAAACACAAGTAGCTACCCTACCAAAAAGGAAAATTACTGCAAGACAACAACAACAACAAAAGCAAGAATCGTCGGGCAG... |
Task1_train_7146 | A genetic alteration is present in MITF (melanocyte inducing transcription factor) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | GGTAGTGAATCAGTTTCAAAGAGGGTGACCAGAAAGTCTCTTAGGTAAATCTGAGTCTACCTGAGGGAGGTGAGTGCAGTGCTGTTCACATATCTGGAGGTACAGTGTTCCAGGCAGGTGGAACAGCCTTATGAAGTCCTCCAATGGGGCGTGTCTGGCTTGCTTGAGGAATAGCAAGGAGCCAGAGGGGCTAGAGTAATTTTATGATTATTATGTGCTTGGAAAAAAAATAAGAAGAAAGTATCATACTTCAGAGTTTTGGGGAAGGTTAGCTAGTGGATCAAGGACCCCACAATTCCTTCTTCAAAACCATTGACCAT... | GGTAGTGAATCAGTTTCAAAGAGGGTGACCAGAAAGTCTCTTAGGTAAATCTGAGTCTACCTGAGGGAGGTGAGTGCAGTGCTGTTCACATATCTGGAGGTACAGTGTTCCAGGCAGGTGGAACAGCCTTATGAAGTCCTCCAATGGGGCGTGTCTGGCTTGCTTGAGGAATAGCAAGGAGCCAGAGGGGCTAGAGTAATTTTATGATTATTATGTGCTTGGAAAAAAAATAAGAAGAAAGTATCATACTTCAGAGTTTTGGGGAAGGTTAGCTAGTGGATCAAGGACCCCACAATTCCTTCTTCAAAACCATTGACCAT... |
Task1_train_7147 | Here is a variant affecting MITF (melanocyte inducing transcription factor) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Waardenburg syndrome type 2A | GGTAGTGAATCAGTTTCAAAGAGGGTGACCAGAAAGTCTCTTAGGTAAATCTGAGTCTACCTGAGGGAGGTGAGTGCAGTGCTGTTCACATATCTGGAGGTACAGTGTTCCAGGCAGGTGGAACAGCCTTATGAAGTCCTCCAATGGGGCGTGTCTGGCTTGCTTGAGGAATAGCAAGGAGCCAGAGGGGCTAGAGTAATTTTATGATTATTATGTGCTTGGAAAAAAAATAAGAAGAAAGTATCATACTTCAGAGTTTTGGGGAAGGTTAGCTAGTGGATCAAGGACCCCACAATTCCTTCTTCAAAACCATTGACCAT... | GGTAGTGAATCAGTTTCAAAGAGGGTGACCAGAAAGTCTCTTAGGTAAATCTGAGTCTACCTGAGGGAGGTGAGTGCAGTGCTGTTCACATATCTGGAGGTACAGTGTTCCAGGCAGGTGGAACAGCCTTATGAAGTCCTCCAATGGGGCGTGTCTGGCTTGCTTGAGGAATAGCAAGGAGCCAGAGGGGCTAGAGTAATTTTATGATTATTATGTGCTTGGAAAAAAAATAAGAAGAAAGTATCATACTTCAGAGTTTTGGGGAAGGTTAGCTAGTGGATCAAGGACCCCACAATTCCTTCTTCAAAACCATTGACCAT... |
Task1_train_7148 | Gene MITF (melanocyte inducing transcription factor), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Waardenburg syndrome type 2A | GCTAGAAAATGTATACATTTTAATGGCCCCCACAGGCATTCTGTGAAATTAGCCTTTGAATATGACCTTTTAGCTACCTAATAAAATGTAAAGATGAAATCAAGTATTATTCATGCCAGGCTTATTAAATTTGCTGTTCACGTTACTGTTAGAGGATTTGTAACAAAATAAAATAAAACCATTACCTATTGTGAGGTGGTTTTGATGAATGTACAAGCACAATTCCATCTTCAATGTTTTGCTTTCCCAGGTTTCAAGGAAAGGCATTTTCAAACCCGAAACATTTCAGATTCTCAGTTCTGCAGCACAAATTTATCCTA... | GCTAGAAAATGTATACATTTTAATGGCCCCCACAGGCATTCTGTGAAATTAGCCTTTGAATATGACCTTTTAGCTACCTAATAAAATGTAAAGATGAAATCAAGTATTATTCATGCCAGGCTTATTAAATTTGCTGTTCACGTTACTGTTAGAGGATTTGTAACAAAATAAAATAAAACCATTACCTATTGTGAGGTGGTTTTGATGAATGTACAAGCACAATTCCATCTTCAATGTTTTGCTTTCCCAGGTTTCAAGGAAAGGCATTTTCAAACCCGAAACATTTCAGATTCTCAGTTCTGCAGCACAAATTTATCCTA... |
Task1_train_7149 | The gene FOXP1 (forkhead box P1) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | TAACGCTGAAGCAGCCCGATGTGTTTGCCTCCAGGGAGTATGATGCTTTGTGCACTTAAGAAAAAAGTTTAACGGAATTAAAATTTAATATCTAATTAGAGCAAGGCTAATATATTTTGAAATGAGTAGGGGAGACCTGTGCCTCTGCTGCATATTCGGGACGGCCGTTAATCTTACCTGTAAAGCTGCATTGAGAGGTGTGCAGTAGGCGTGGCTGCTCTGCATGTTTTTAATAAGGGAAGGGTTACTGTGTAAGAAAAACATAAAAACTCAAAGTTAAACACAGTCGACTGCTGAGTTCCTAGCTAAGTTTTGTTTTA... | TAACGCTGAAGCAGCCCGATGTGTTTGCCTCCAGGGAGTATGATGCTTTGTGCACTTAAGAAAAAAGTTTAACGGAATTAAAATTTAATATCTAATTAGAGCAAGGCTAATATATTTTGAAATGAGTAGGGGAGACCTGTGCCTCTGCTGCATATTCGGGACGGCCGTTAATCTTACCTGTAAAGCTGCATTGAGAGGTGTGCAGTAGGCGTGGCTGCTCTGCATGTTTTTAATAAGGGAAGGGTTACTGTGTAAGAAAAACATAAAAACTCAAAGTTAAACACAGTCGACTGCTGAGTTCCTAGCTAAGTTTTGTTTTA... |
Task1_train_7150 | This sequence change occurs on Chromosome 3, altering FOXP1 (forkhead box P1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Intellectual disability-severe speech delay-mild dysmorphism syndrome | TTGTGCACTTAAGAAAAAAGTTTAACGGAATTAAAATTTAATATCTAATTAGAGCAAGGCTAATATATTTTGAAATGAGTAGGGGAGACCTGTGCCTCTGCTGCATATTCGGGACGGCCGTTAATCTTACCTGTAAAGCTGCATTGAGAGGTGTGCAGTAGGCGTGGCTGCTCTGCATGTTTTTAATAAGGGAAGGGTTACTGTGTAAGAAAAACATAAAAACTCAAAGTTAAACACAGTCGACTGCTGAGTTCCTAGCTAAGTTTTGTTTTAAGCTTGCTGGTGCCCTTCCAAATGAGCAATTTCCCCCACTAGCAAAA... | TTGTGCACTTAAGAAAAAAGTTTAACGGAATTAAAATTTAATATCTAATTAGAGCAAGGCTAATATATTTTGAAATGAGTAGGGGAGACCTGTGCCTCTGCTGCATATTCGGGACGGCCGTTAATCTTACCTGTAAAGCTGCATTGAGAGGTGTGCAGTAGGCGTGGCTGCTCTGCATGTTTTTAATAAGGGAAGGGTTACTGTGTAAGAAAAACATAAAAACTCAAAGTTAAACACAGTCGACTGCTGAGTTCCTAGCTAAGTTTTGTTTTAAGCTTGCTGGTGCCCTTCCAAATGAGCAATTTCCCCCACTAGCAAAA... |
Task1_train_7151 | This alteration in FOXP1 (forkhead box P1) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; FOXP1-related disorder | AAAAAAGTTTAACGGAATTAAAATTTAATATCTAATTAGAGCAAGGCTAATATATTTTGAAATGAGTAGGGGAGACCTGTGCCTCTGCTGCATATTCGGGACGGCCGTTAATCTTACCTGTAAAGCTGCATTGAGAGGTGTGCAGTAGGCGTGGCTGCTCTGCATGTTTTTAATAAGGGAAGGGTTACTGTGTAAGAAAAACATAAAAACTCAAAGTTAAACACAGTCGACTGCTGAGTTCCTAGCTAAGTTTTGTTTTAAGCTTGCTGGTGCCCTTCCAAATGAGCAATTTCCCCCACTAGCAAAACCCAAGAAAAGTC... | AAAAAAGTTTAACGGAATTAAAATTTAATATCTAATTAGAGCAAGGCTAATATATTTTGAAATGAGTAGGGGAGACCTGTGCCTCTGCTGCATATTCGGGACGGCCGTTAATCTTACCTGTAAAGCTGCATTGAGAGGTGTGCAGTAGGCGTGGCTGCTCTGCATGTTTTTAATAAGGGAAGGGTTACTGTGTAAGAAAAACATAAAAACTCAAAGTTAAACACAGTCGACTGCTGAGTTCCTAGCTAAGTTTTGTTTTAAGCTTGCTGGTGCCCTTCCAAATGAGCAATTTCCCCCACTAGCAAAACCCAAGAAAAGTC... |
Task1_train_7152 | A mutation in FOXP1 (forkhead box P1), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Intellectual disability-severe speech delay-mild dysmorphism syndrome | AAAAAAGTTTAACGGAATTAAAATTTAATATCTAATTAGAGCAAGGCTAATATATTTTGAAATGAGTAGGGGAGACCTGTGCCTCTGCTGCATATTCGGGACGGCCGTTAATCTTACCTGTAAAGCTGCATTGAGAGGTGTGCAGTAGGCGTGGCTGCTCTGCATGTTTTTAATAAGGGAAGGGTTACTGTGTAAGAAAAACATAAAAACTCAAAGTTAAACACAGTCGACTGCTGAGTTCCTAGCTAAGTTTTGTTTTAAGCTTGCTGGTGCCCTTCCAAATGAGCAATTTCCCCCACTAGCAAAACCCAAGAAAAGTC... | AAAAAAGTTTAACGGAATTAAAATTTAATATCTAATTAGAGCAAGGCTAATATATTTTGAAATGAGTAGGGGAGACCTGTGCCTCTGCTGCATATTCGGGACGGCCGTTAATCTTACCTGTAAAGCTGCATTGAGAGGTGTGCAGTAGGCGTGGCTGCTCTGCATGTTTTTAATAAGGGAAGGGTTACTGTGTAAGAAAAACATAAAAACTCAAAGTTAAACACAGTCGACTGCTGAGTTCCTAGCTAAGTTTTGTTTTAAGCTTGCTGGTGCCCTTCCAAATGAGCAATTTCCCCCACTAGCAAAACCCAAGAAAAGTC... |
Task1_train_7153 | The variant affects gene FOXP1 (forkhead box P1), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Intellectual disability-severe speech delay-mild dysmorphism syndrome | TAACACATCCTTATCATATTTAGATTAATGGCATGTAAAAATAGCCTCAAATGTTTGTTATCACATGTCTCTAAATGTTTTGGATTTCAGGGATTACAAGAATTCCAGGTAGTAAAAAATGCAAAAATACAAATGACAGAGTGTACCTGTCCCCTTCTATAAGCAAGAATATTAGACACCAAGAAATCAAAAATGGGAAAGCCCAAAAATATGTGAGGGATCAATCTAATATAAGGGAGTAAATACCAGTGGAATCTTTGAGCCAGCTGCTGACCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGC... | TAACACATCCTTATCATATTTAGATTAATGGCATGTAAAAATAGCCTCAAATGTTTGTTATCACATGTCTCTAAATGTTTTGGATTTCAGGGATTACAAGAATTCCAGGTAGTAAAAAATGCAAAAATACAAATGACAGAGTGTACCTGTCCCCTTCTATAAGCAAGAATATTAGACACCAAGAAATCAAAAATGGGAAAGCCCAAAAATATGTGAGGGATCAATCTAATATAAGGGAGTAAATACCAGTGGAATCTTTGAGCCAGCTGCTGACCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGC... |
Task1_train_7154 | This sequence variant lies in FOXP1 (forkhead box P1) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | TAACACATCCTTATCATATTTAGATTAATGGCATGTAAAAATAGCCTCAAATGTTTGTTATCACATGTCTCTAAATGTTTTGGATTTCAGGGATTACAAGAATTCCAGGTAGTAAAAAATGCAAAAATACAAATGACAGAGTGTACCTGTCCCCTTCTATAAGCAAGAATATTAGACACCAAGAAATCAAAAATGGGAAAGCCCAAAAATATGTGAGGGATCAATCTAATATAAGGGAGTAAATACCAGTGGAATCTTTGAGCCAGCTGCTGACCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGC... | TAACACATCCTTATCATATTTAGATTAATGGCATGTAAAAATAGCCTCAAATGTTTGTTATCACATGTCTCTAAATGTTTTGGATTTCAGGGATTACAAGAATTCCAGGTAGTAAAAAATGCAAAAATACAAATGACAGAGTGTACCTGTCCCCTTCTATAAGCAAGAATATTAGACACCAAGAAATCAAAAATGGGAAAGCCCAAAAATATGTGAGGGATCAATCTAATATAAGGGAGTAAATACCAGTGGAATCTTTGAGCCAGCTGCTGACCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGC... |
Task1_train_7155 | A genomic change on Chromosome 3 affects FOXP1 (forkhead box P1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | TCATATTTAGATTAATGGCATGTAAAAATAGCCTCAAATGTTTGTTATCACATGTCTCTAAATGTTTTGGATTTCAGGGATTACAAGAATTCCAGGTAGTAAAAAATGCAAAAATACAAATGACAGAGTGTACCTGTCCCCTTCTATAAGCAAGAATATTAGACACCAAGAAATCAAAAATGGGAAAGCCCAAAAATATGTGAGGGATCAATCTAATATAAGGGAGTAAATACCAGTGGAATCTTTGAGCCAGCTGCTGACCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGCATCCAATAAAGAG... | TCATATTTAGATTAATGGCATGTAAAAATAGCCTCAAATGTTTGTTATCACATGTCTCTAAATGTTTTGGATTTCAGGGATTACAAGAATTCCAGGTAGTAAAAAATGCAAAAATACAAATGACAGAGTGTACCTGTCCCCTTCTATAAGCAAGAATATTAGACACCAAGAAATCAAAAATGGGAAAGCCCAAAAATATGTGAGGGATCAATCTAATATAAGGGAGTAAATACCAGTGGAATCTTTGAGCCAGCTGCTGACCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGCATCCAATAAAGAG... |
Task1_train_7156 | A variant found in Chromosome 3 affects FOXP1 (forkhead box P1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Intellectual disability-severe speech delay-mild dysmorphism syndrome | ATATTTAGATTAATGGCATGTAAAAATAGCCTCAAATGTTTGTTATCACATGTCTCTAAATGTTTTGGATTTCAGGGATTACAAGAATTCCAGGTAGTAAAAAATGCAAAAATACAAATGACAGAGTGTACCTGTCCCCTTCTATAAGCAAGAATATTAGACACCAAGAAATCAAAAATGGGAAAGCCCAAAAATATGTGAGGGATCAATCTAATATAAGGGAGTAAATACCAGTGGAATCTTTGAGCCAGCTGCTGACCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGCATCCAATAAAGAGCT... | ATATTTAGATTAATGGCATGTAAAAATAGCCTCAAATGTTTGTTATCACATGTCTCTAAATGTTTTGGATTTCAGGGATTACAAGAATTCCAGGTAGTAAAAAATGCAAAAATACAAATGACAGAGTGTACCTGTCCCCTTCTATAAGCAAGAATATTAGACACCAAGAAATCAAAAATGGGAAAGCCCAAAAATATGTGAGGGATCAATCTAATATAAGGGAGTAAATACCAGTGGAATCTTTGAGCCAGCTGCTGACCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGCATCCAATAAAGAGCT... |
Task1_train_7157 | This mutation occurs in FOXP1 (forkhead box P1) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | GAATATTAGACACCAAGAAATCAAAAATGGGAAAGCCCAAAAATATGTGAGGGATCAATCTAATATAAGGGAGTAAATACCAGTGGAATCTTTGAGCCAGCTGCTGACCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGCATCCAATAAAGAGCTATGCAATTTGACTTGTTTTTACAGCAAATAGTATTATAATGAATATAATGAAGTTCGAAATCTACTTTTCTTCCTTAGTATATCTATGAGGGACAATCTCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGG... | GAATATTAGACACCAAGAAATCAAAAATGGGAAAGCCCAAAAATATGTGAGGGATCAATCTAATATAAGGGAGTAAATACCAGTGGAATCTTTGAGCCAGCTGCTGACCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGCATCCAATAAAGAGCTATGCAATTTGACTTGTTTTTACAGCAAATAGTATTATAATGAATATAATGAAGTTCGAAATCTACTTTTCTTCCTTAGTATATCTATGAGGGACAATCTCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGG... |
Task1_train_7158 | Assess the clinical impact of this variant on gene PROK2 (prokineticin 2), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hypogonadotropic hypogonadism 4 with or without anosmia | TAAACAGGCTATGTGATTCTAGCATCTAGGGCATGTGAAGCTGTACTAATACTGCATGAAAACAACACAATTTTTCTTTTTCCAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGTGGCAAGATCACGCTCACTGCAGCCTGAAACTCCTGGATTCTACTGATCCCCTCCCCCACCTCAGCCTTCCTGGTAATTAGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTAAAAATTTTTCTATAGAGACGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAATTCCTGGGCTCAAGCAAACTGCCTGCC... | TAAACAGGCTATGTGATTCTAGCATCTAGGGCATGTGAAGCTGTACTAATACTGCATGAAAACAACACAATTTTTCTTTTTCCAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGTGGCAAGATCACGCTCACTGCAGCCTGAAACTCCTGGATTCTACTGATCCCCTCCCCCACCTCAGCCTTCCTGGTAATTAGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTAAAAATTTTTCTATAGAGACGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAATTCCTGGGCTCAAGCAAACTGCCTGCC... |
Task1_train_7159 | Here is a variant affecting PROK2 (prokineticin 2) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hypogonadotropic hypogonadism 4 with or without anosmia | TATAGGACAATATGTAAATGTTTCAATTTTCCAATTTTTATCTGCATGCCAGAAATCATGTATATGTAGCCATTACATCCCATAAATAAGATGTCTAGTCAATGATCTTTTACAATATAGTTTTAACAAATCTATGTGGGCATATAAATCAATTTCAAAATACCTACATACACTACCCAAAAAACTGTGGATGTCAGGTGAAAGTTTTAGCCAGCATTTTATTTCAACAGATGCTCAATACCTCGAATTTTGAGGCCCCATGAGCTTTTTTTTATGAACCAATCAAAAATCCAGCCAAAATCTTTTAAAATTCAATCACC... | TATAGGACAATATGTAAATGTTTCAATTTTCCAATTTTTATCTGCATGCCAGAAATCATGTATATGTAGCCATTACATCCCATAAATAAGATGTCTAGTCAATGATCTTTTACAATATAGTTTTAACAAATCTATGTGGGCATATAAATCAATTTCAAAATACCTACATACACTACCCAAAAAACTGTGGATGTCAGGTGAAAGTTTTAGCCAGCATTTTATTTCAACAGATGCTCAATACCTCGAATTTTGAGGCCCCATGAGCTTTTTTTTATGAACCAATCAAAAATCCAGCCAAAATCTTTTAAAATTCAATCACC... |
Task1_train_7160 | Here is a genetic alteration in PROK2 (prokineticin 2) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; PROK2-related disorder | TATAGGACAATATGTAAATGTTTCAATTTTCCAATTTTTATCTGCATGCCAGAAATCATGTATATGTAGCCATTACATCCCATAAATAAGATGTCTAGTCAATGATCTTTTACAATATAGTTTTAACAAATCTATGTGGGCATATAAATCAATTTCAAAATACCTACATACACTACCCAAAAAACTGTGGATGTCAGGTGAAAGTTTTAGCCAGCATTTTATTTCAACAGATGCTCAATACCTCGAATTTTGAGGCCCCATGAGCTTTTTTTTATGAACCAATCAAAAATCCAGCCAAAATCTTTTAAAATTCAATCACC... | TATAGGACAATATGTAAATGTTTCAATTTTCCAATTTTTATCTGCATGCCAGAAATCATGTATATGTAGCCATTACATCCCATAAATAAGATGTCTAGTCAATGATCTTTTACAATATAGTTTTAACAAATCTATGTGGGCATATAAATCAATTTCAAAATACCTACATACACTACCCAAAAAACTGTGGATGTCAGGTGAAAGTTTTAGCCAGCATTTTATTTCAACAGATGCTCAATACCTCGAATTTTGAGGCCCCATGAGCTTTTTTTTATGAACCAATCAAAAATCCAGCCAAAATCTTTTAAAATTCAATCACC... |
Task1_train_7161 | A genomic change on Chromosome 3 affects PROK2 (prokineticin 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hypogonadotropic hypogonadism 4 with or without anosmia | AATTTTCCAATTTTTATCTGCATGCCAGAAATCATGTATATGTAGCCATTACATCCCATAAATAAGATGTCTAGTCAATGATCTTTTACAATATAGTTTTAACAAATCTATGTGGGCATATAAATCAATTTCAAAATACCTACATACACTACCCAAAAAACTGTGGATGTCAGGTGAAAGTTTTAGCCAGCATTTTATTTCAACAGATGCTCAATACCTCGAATTTTGAGGCCCCATGAGCTTTTTTTTATGAACCAATCAAAAATCCAGCCAAAATCTTTTAAAATTCAATCACCTGGATGTTTAACATGCTATACACA... | AATTTTCCAATTTTTATCTGCATGCCAGAAATCATGTATATGTAGCCATTACATCCCATAAATAAGATGTCTAGTCAATGATCTTTTACAATATAGTTTTAACAAATCTATGTGGGCATATAAATCAATTTCAAAATACCTACATACACTACCCAAAAAACTGTGGATGTCAGGTGAAAGTTTTAGCCAGCATTTTATTTCAACAGATGCTCAATACCTCGAATTTTGAGGCCCCATGAGCTTTTTTTTATGAACCAATCAAAAATCCAGCCAAAATCTTTTAAAATTCAATCACCTGGATGTTTAACATGCTATACACA... |
Task1_train_7162 | Gene PROK2 (prokineticin 2), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; PROK2-related disorder | AATTTTCCAATTTTTATCTGCATGCCAGAAATCATGTATATGTAGCCATTACATCCCATAAATAAGATGTCTAGTCAATGATCTTTTACAATATAGTTTTAACAAATCTATGTGGGCATATAAATCAATTTCAAAATACCTACATACACTACCCAAAAAACTGTGGATGTCAGGTGAAAGTTTTAGCCAGCATTTTATTTCAACAGATGCTCAATACCTCGAATTTTGAGGCCCCATGAGCTTTTTTTTATGAACCAATCAAAAATCCAGCCAAAATCTTTTAAAATTCAATCACCTGGATGTTTAACATGCTATACACA... | AATTTTCCAATTTTTATCTGCATGCCAGAAATCATGTATATGTAGCCATTACATCCCATAAATAAGATGTCTAGTCAATGATCTTTTACAATATAGTTTTAACAAATCTATGTGGGCATATAAATCAATTTCAAAATACCTACATACACTACCCAAAAAACTGTGGATGTCAGGTGAAAGTTTTAGCCAGCATTTTATTTCAACAGATGCTCAATACCTCGAATTTTGAGGCCCCATGAGCTTTTTTTTATGAACCAATCAAAAATCCAGCCAAAATCTTTTAAAATTCAATCACCTGGATGTTTAACATGCTATACACA... |
Task1_train_7163 | Gene SHQ1 (SHQ1, H/ACA ribonucleoprotein assembly factor), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neurodevelopmental disorder with dystonia and seizures | TTATCAGAATTTTATTAAAAAGATGGAAAACATACTTGTACAATAGAGCTTCTACTTTTAAAAATTCAAGGAATTGCTTGAATTACCCCAAATGATGTAAAAACAACAAAAATAACTTCCTGAACAACAAATTCTAAACAATTGCAACTGGAAATCATACCTCAAACCAGCATAGTGTTGGACTCAGTTTCCTGATATTCCATGCAGATTCAACCTTTATTTGTTTTGGAGAAAAGAATACCATCACATTAGAGGTGAAGTCATTTAAATAGACCAAACAAATCCATTTATTCAACCAGTGTCTGAGGATCACTGACATA... | TTATCAGAATTTTATTAAAAAGATGGAAAACATACTTGTACAATAGAGCTTCTACTTTTAAAAATTCAAGGAATTGCTTGAATTACCCCAAATGATGTAAAAACAACAAAAATAACTTCCTGAACAACAAATTCTAAACAATTGCAACTGGAAATCATACCTCAAACCAGCATAGTGTTGGACTCAGTTTCCTGATATTCCATGCAGATTCAACCTTTATTTGTTTTGGAGAAAAGAATACCATCACATTAGAGGTGAAGTCATTTAAATAGACCAAACAAATCCATTTATTCAACCAGTGTCTGAGGATCACTGACATA... |
Task1_train_7164 | This variant lies on Chromosome 3 and affects the gene SHQ1 (SHQ1, H/ACA ribonucleoprotein assembly factor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Dystonia 35, childhood-onset | TATACATTATGTATTACATGTGTATATCACAATGTATTATCTGCATGGTGATAGTAATTTAAAGTGAGCCTTTTTTTCTCCACTGTTTTAACCACTAACAACAAGAAAAAAAAGCACTGAGCTAAAAAAAAGAATTTTTAAATAAAAATTAAAAAGAATTTTAGTTGCATTTCATTTAATATTAATACATTTGGGTGAGTCAGTCAGCTAATATAAATAGTGAGTAGTAACACAAAAATTACACTGAGCCAAAGTCTTACTGCTATCAGAAAAGTCACAAAGAATCTTTACCTCATGACTCCCACTCTCCTCACTTAGCC... | TATACATTATGTATTACATGTGTATATCACAATGTATTATCTGCATGGTGATAGTAATTTAAAGTGAGCCTTTTTTTCTCCACTGTTTTAACCACTAACAACAAGAAAAAAAAGCACTGAGCTAAAAAAAAGAATTTTTAAATAAAAATTAAAAAGAATTTTAGTTGCATTTCATTTAATATTAATACATTTGGGTGAGTCAGTCAGCTAATATAAATAGTGAGTAGTAACACAAAAATTACACTGAGCCAAAGTCTTACTGCTATCAGAAAAGTCACAAAGAATCTTTACCTCATGACTCCCACTCTCCTCACTTAGCC... |
Task1_train_7165 | A variant has been detected on Chromosome 3 in ROBO1 (roundabout guidance receptor 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Short stature | ATTAACTCAAGGTAGATAAAAAAAATTTGCATCACAAAATATCAAAGGTGTAAATAATAAAGCTTCTAGAAGAAGACATAGAAGAATATTTTCAAGGCCTCAAGGTAGGACAGAAGAGTAAACACACTAATCATAAAAAAAAAATGGTTTTCAGCAAAATTAATTACTTAATCCCTAAAACCATCATTAAGAGAATGACCAGGAAGAAATATTTCCAATATACATATCTGATGAAGACTTGTATTTCAAATACATGGGAAAACAAAAAGAAATTAGTATGTATGTCCACTAAAGGCAAACCAAGATAACTGAGTGCACCT... | ATTAACTCAAGGTAGATAAAAAAAATTTGCATCACAAAATATCAAAGGTGTAAATAATAAAGCTTCTAGAAGAAGACATAGAAGAATATTTTCAAGGCCTCAAGGTAGGACAGAAGAGTAAACACACTAATCATAAAAAAAAAATGGTTTTCAGCAAAATTAATTACTTAATCCCTAAAACCATCATTAAGAGAATGACCAGGAAGAAATATTTCCAATATACATATCTGATGAAGACTTGTATTTCAAATACATGGGAAAACAAAAAGAAATTAGTATGTATGTCCACTAAAGGCAAACCAAGATAACTGAGTGCACCT... |
Task1_train_7166 | The gene GBE1 (1,4-alpha-glucan branching enzyme 1) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Glycogen storage disease, type IV | CAAAGATTTATCCATCAACTATTTTAAGTTCCTCATTTTTCAGATGAGGAAAATGAATGTTTCTGTCATCAAGATCAACCTTAGTCTTTTTTTTTTTTTTGTCCTATAATGTAATAAAGAAGTGAATGTGGACAGTCATATTCACTGGTAACAAAAAGGATATTTCCCTGGCAATGCTGTTCCAACTCGGTAGTCAGTGTAGCTCTTGCTTGGATGGAAGTTGAAAATGAAAAGAAGACCTGCTCTTTCAAAAGCAATGATCTTATTGCCTTCATGTTTTTCACTCACGTAGGCCTGCAAGAATTAGCACACATGTTACA... | CAAAGATTTATCCATCAACTATTTTAAGTTCCTCATTTTTCAGATGAGGAAAATGAATGTTTCTGTCATCAAGATCAACCTTAGTCTTTTTTTTTTTTTTGTCCTATAATGTAATAAAGAAGTGAATGTGGACAGTCATATTCACTGGTAACAAAAAGGATATTTCCCTGGCAATGCTGTTCCAACTCGGTAGTCAGTGTAGCTCTTGCTTGGATGGAAGTTGAAAATGAAAAGAAGACCTGCTCTTTCAAAAGCAATGATCTTATTGCCTTCATGTTTTTCACTCACGTAGGCCTGCAAGAATTAGCACACATGTTACA... |
Task1_train_7167 | Gene GBE1 (1,4-alpha-glucan branching enzyme 1) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Glycogen storage disease IV, classic hepatic | CAAAGATTTATCCATCAACTATTTTAAGTTCCTCATTTTTCAGATGAGGAAAATGAATGTTTCTGTCATCAAGATCAACCTTAGTCTTTTTTTTTTTTTTGTCCTATAATGTAATAAAGAAGTGAATGTGGACAGTCATATTCACTGGTAACAAAAAGGATATTTCCCTGGCAATGCTGTTCCAACTCGGTAGTCAGTGTAGCTCTTGCTTGGATGGAAGTTGAAAATGAAAAGAAGACCTGCTCTTTCAAAAGCAATGATCTTATTGCCTTCATGTTTTTCACTCACGTAGGCCTGCAAGAATTAGCACACATGTTACA... | CAAAGATTTATCCATCAACTATTTTAAGTTCCTCATTTTTCAGATGAGGAAAATGAATGTTTCTGTCATCAAGATCAACCTTAGTCTTTTTTTTTTTTTTGTCCTATAATGTAATAAAGAAGTGAATGTGGACAGTCATATTCACTGGTAACAAAAAGGATATTTCCCTGGCAATGCTGTTCCAACTCGGTAGTCAGTGTAGCTCTTGCTTGGATGGAAGTTGAAAATGAAAAGAAGACCTGCTCTTTCAAAAGCAATGATCTTATTGCCTTCATGTTTTTCACTCACGTAGGCCTGCAAGAATTAGCACACATGTTACA... |
Task1_train_7168 | Assess the clinical impact of this variant on gene GBE1 (1,4-alpha-glucan branching enzyme 1), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Glycogen storage disease, type IV | CAAACAGAATGACATGTAGAATAATACAAATGCAATTTAATAAAACTATATTTACAGAGGACTAAGTCTATATGACAGCAGAAAAAAAACAAATAAAATGGTCACAATAAAAAATAAATTAAGCTAAAACTATAGGATGCTTTATTTACCAAAAGCATGCACATGAGAAAGATTAATAGTTAATTCAATAAAAAAGAAGCCGAGTATTAAATAACAATGTTAAGTTTGTCTCAATTTCTGTGATAGAAATGTTTTTGAAAACAATGATGTATGATCCCTTTTGTTTAGAAAATTGGCTAAGTTTAAATGCACTTTGGTAC... | CAAACAGAATGACATGTAGAATAATACAAATGCAATTTAATAAAACTATATTTACAGAGGACTAAGTCTATATGACAGCAGAAAAAAAACAAATAAAATGGTCACAATAAAAAATAAATTAAGCTAAAACTATAGGATGCTTTATTTACCAAAAGCATGCACATGAGAAAGATTAATAGTTAATTCAATAAAAAAGAAGCCGAGTATTAAATAACAATGTTAAGTTTGTCTCAATTTCTGTGATAGAAATGTTTTTGAAAACAATGATGTATGATCCCTTTTGTTTAGAAAATTGGCTAAGTTTAAATGCACTTTGGTAC... |
Task1_train_7169 | Assess the clinical impact of this variant on gene GBE1 (1,4-alpha-glucan branching enzyme 1), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; GBE1-related disorder | CAAACAGAATGACATGTAGAATAATACAAATGCAATTTAATAAAACTATATTTACAGAGGACTAAGTCTATATGACAGCAGAAAAAAAACAAATAAAATGGTCACAATAAAAAATAAATTAAGCTAAAACTATAGGATGCTTTATTTACCAAAAGCATGCACATGAGAAAGATTAATAGTTAATTCAATAAAAAAGAAGCCGAGTATTAAATAACAATGTTAAGTTTGTCTCAATTTCTGTGATAGAAATGTTTTTGAAAACAATGATGTATGATCCCTTTTGTTTAGAAAATTGGCTAAGTTTAAATGCACTTTGGTAC... | CAAACAGAATGACATGTAGAATAATACAAATGCAATTTAATAAAACTATATTTACAGAGGACTAAGTCTATATGACAGCAGAAAAAAAACAAATAAAATGGTCACAATAAAAAATAAATTAAGCTAAAACTATAGGATGCTTTATTTACCAAAAGCATGCACATGAGAAAGATTAATAGTTAATTCAATAAAAAAGAAGCCGAGTATTAAATAACAATGTTAAGTTTGTCTCAATTTCTGTGATAGAAATGTTTTTGAAAACAATGATGTATGATCCCTTTTGTTTAGAAAATTGGCTAAGTTTAAATGCACTTTGGTAC... |
Task1_train_7170 | With a mutation on Chromosome 3 in gene GBE1 (1,4-alpha-glucan branching enzyme 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Adult polyglucosan body disease | CAAACAGAATGACATGTAGAATAATACAAATGCAATTTAATAAAACTATATTTACAGAGGACTAAGTCTATATGACAGCAGAAAAAAAACAAATAAAATGGTCACAATAAAAAATAAATTAAGCTAAAACTATAGGATGCTTTATTTACCAAAAGCATGCACATGAGAAAGATTAATAGTTAATTCAATAAAAAAGAAGCCGAGTATTAAATAACAATGTTAAGTTTGTCTCAATTTCTGTGATAGAAATGTTTTTGAAAACAATGATGTATGATCCCTTTTGTTTAGAAAATTGGCTAAGTTTAAATGCACTTTGGTAC... | CAAACAGAATGACATGTAGAATAATACAAATGCAATTTAATAAAACTATATTTACAGAGGACTAAGTCTATATGACAGCAGAAAAAAAACAAATAAAATGGTCACAATAAAAAATAAATTAAGCTAAAACTATAGGATGCTTTATTTACCAAAAGCATGCACATGAGAAAGATTAATAGTTAATTCAATAAAAAAGAAGCCGAGTATTAAATAACAATGTTAAGTTTGTCTCAATTTCTGTGATAGAAATGTTTTTGAAAACAATGATGTATGATCCCTTTTGTTTAGAAAATTGGCTAAGTTTAAATGCACTTTGGTAC... |
Task1_train_7171 | Gene GBE1 (1,4-alpha-glucan branching enzyme 1), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Adult polyglucosan body disease | CAAACAGAATGACATGTAGAATAATACAAATGCAATTTAATAAAACTATATTTACAGAGGACTAAGTCTATATGACAGCAGAAAAAAAACAAATAAAATGGTCACAATAAAAAATAAATTAAGCTAAAACTATAGGATGCTTTATTTACCAAAAGCATGCACATGAGAAAGATTAATAGTTAATTCAATAAAAAAGAAGCCGAGTATTAAATAACAATGTTAAGTTTGTCTCAATTTCTGTGATAGAAATGTTTTTGAAAACAATGATGTATGATCCCTTTTGTTTAGAAAATTGGCTAAGTTTAAATGCACTTTGGTAC... | CAAACAGAATGACATGTAGAATAATACAAATGCAATTTAATAAAACTATATTTACAGAGGACTAAGTCTATATGACAGCAGAAAAAAAACAAATAAAATGGTCACAATAAAAAATAAATTAAGCTAAAACTATAGGATGCTTTATTTACCAAAAGCATGCACATGAGAAAGATTAATAGTTAATTCAATAAAAAAGAAGCCGAGTATTAAATAACAATGTTAAGTTTGTCTCAATTTCTGTGATAGAAATGTTTTTGAAAACAATGATGTATGATCCCTTTTGTTTAGAAAATTGGCTAAGTTTAAATGCACTTTGGTAC... |
Task1_train_7172 | Assess the clinical impact of this variant on gene GBE1 (1,4-alpha-glucan branching enzyme 1), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Glycogen storage disease, type IV | CAAACAGAATGACATGTAGAATAATACAAATGCAATTTAATAAAACTATATTTACAGAGGACTAAGTCTATATGACAGCAGAAAAAAAACAAATAAAATGGTCACAATAAAAAATAAATTAAGCTAAAACTATAGGATGCTTTATTTACCAAAAGCATGCACATGAGAAAGATTAATAGTTAATTCAATAAAAAAGAAGCCGAGTATTAAATAACAATGTTAAGTTTGTCTCAATTTCTGTGATAGAAATGTTTTTGAAAACAATGATGTATGATCCCTTTTGTTTAGAAAATTGGCTAAGTTTAAATGCACTTTGGTAC... | CAAACAGAATGACATGTAGAATAATACAAATGCAATTTAATAAAACTATATTTACAGAGGACTAAGTCTATATGACAGCAGAAAAAAAACAAATAAAATGGTCACAATAAAAAATAAATTAAGCTAAAACTATAGGATGCTTTATTTACCAAAAGCATGCACATGAGAAAGATTAATAGTTAATTCAATAAAAAAGAAGCCGAGTATTAAATAACAATGTTAAGTTTGTCTCAATTTCTGTGATAGAAATGTTTTTGAAAACAATGATGTATGATCCCTTTTGTTTAGAAAATTGGCTAAGTTTAAATGCACTTTGGTAC... |
Task1_train_7173 | The gene GBE1 (1,4-alpha-glucan branching enzyme 1), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Glycogen storage disease, type IV | CAAACAGAATGACATGTAGAATAATACAAATGCAATTTAATAAAACTATATTTACAGAGGACTAAGTCTATATGACAGCAGAAAAAAAACAAATAAAATGGTCACAATAAAAAATAAATTAAGCTAAAACTATAGGATGCTTTATTTACCAAAAGCATGCACATGAGAAAGATTAATAGTTAATTCAATAAAAAAGAAGCCGAGTATTAAATAACAATGTTAAGTTTGTCTCAATTTCTGTGATAGAAATGTTTTTGAAAACAATGATGTATGATCCCTTTTGTTTAGAAAATTGGCTAAGTTTAAATGCACTTTGGTAC... | CAAACAGAATGACATGTAGAATAATACAAATGCAATTTAATAAAACTATATTTACAGAGGACTAAGTCTATATGACAGCAGAAAAAAAACAAATAAAATGGTCACAATAAAAAATAAATTAAGCTAAAACTATAGGATGCTTTATTTACCAAAAGCATGCACATGAGAAAGATTAATAGTTAATTCAATAAAAAAGAAGCCGAGTATTAAATAACAATGTTAAGTTTGTCTCAATTTCTGTGATAGAAATGTTTTTGAAAACAATGATGTATGATCCCTTTTGTTTAGAAAATTGGCTAAGTTTAAATGCACTTTGGTAC... |
Task1_train_7174 | Given this variant in gene GBE1 (1,4-alpha-glucan branching enzyme 1) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Glycogen storage disease IV, classic hepatic | CAAACAGAATGACATGTAGAATAATACAAATGCAATTTAATAAAACTATATTTACAGAGGACTAAGTCTATATGACAGCAGAAAAAAAACAAATAAAATGGTCACAATAAAAAATAAATTAAGCTAAAACTATAGGATGCTTTATTTACCAAAAGCATGCACATGAGAAAGATTAATAGTTAATTCAATAAAAAAGAAGCCGAGTATTAAATAACAATGTTAAGTTTGTCTCAATTTCTGTGATAGAAATGTTTTTGAAAACAATGATGTATGATCCCTTTTGTTTAGAAAATTGGCTAAGTTTAAATGCACTTTGGTAC... | CAAACAGAATGACATGTAGAATAATACAAATGCAATTTAATAAAACTATATTTACAGAGGACTAAGTCTATATGACAGCAGAAAAAAAACAAATAAAATGGTCACAATAAAAAATAAATTAAGCTAAAACTATAGGATGCTTTATTTACCAAAAGCATGCACATGAGAAAGATTAATAGTTAATTCAATAAAAAAGAAGCCGAGTATTAAATAACAATGTTAAGTTTGTCTCAATTTCTGTGATAGAAATGTTTTTGAAAACAATGATGTATGATCCCTTTTGTTTAGAAAATTGGCTAAGTTTAAATGCACTTTGGTAC... |
Task1_train_7175 | This is a variant in GBE1 (1,4-alpha-glucan branching enzyme 1), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Inborn genetic diseases | CTTAATTTTTATGGCATTAATCATTCCTGGATTCACTTTCATTCCAGGTACTAGGCTAGACAATTCAAACACAAAGATGAGTAAGAGAATCCTTGTGCTGCTGAACGTTCTGCAAGAACTGGGTCATAAGCAATTTATTACTCCATAATATGAAAGAATATCTCAAATATAATAATTTAGCATAATATCTATTAATTATAATTAATACTAAATACTCTATACATTTAATTAATTTTGGTTTCTGGAACCTGACTTTACCATCACAGATAATCCATACATAACTGAAAACTTTAACCATGCCTTACAAACCTTTCTTCTAG... | CTTAATTTTTATGGCATTAATCATTCCTGGATTCACTTTCATTCCAGGTACTAGGCTAGACAATTCAAACACAAAGATGAGTAAGAGAATCCTTGTGCTGCTGAACGTTCTGCAAGAACTGGGTCATAAGCAATTTATTACTCCATAATATGAAAGAATATCTCAAATATAATAATTTAGCATAATATCTATTAATTATAATTAATACTAAATACTCTATACATTTAATTAATTTTGGTTTCTGGAACCTGACTTTACCATCACAGATAATCCATACATAACTGAAAACTTTAACCATGCCTTACAAACCTTTCTTCTAG... |
Task1_train_7176 | A variant on Chromosome 3 in gene GBE1 (1,4-alpha-glucan branching enzyme 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Glycogen storage disease, type IV | CTTAATTTTTATGGCATTAATCATTCCTGGATTCACTTTCATTCCAGGTACTAGGCTAGACAATTCAAACACAAAGATGAGTAAGAGAATCCTTGTGCTGCTGAACGTTCTGCAAGAACTGGGTCATAAGCAATTTATTACTCCATAATATGAAAGAATATCTCAAATATAATAATTTAGCATAATATCTATTAATTATAATTAATACTAAATACTCTATACATTTAATTAATTTTGGTTTCTGGAACCTGACTTTACCATCACAGATAATCCATACATAACTGAAAACTTTAACCATGCCTTACAAACCTTTCTTCTAG... | CTTAATTTTTATGGCATTAATCATTCCTGGATTCACTTTCATTCCAGGTACTAGGCTAGACAATTCAAACACAAAGATGAGTAAGAGAATCCTTGTGCTGCTGAACGTTCTGCAAGAACTGGGTCATAAGCAATTTATTACTCCATAATATGAAAGAATATCTCAAATATAATAATTTAGCATAATATCTATTAATTATAATTAATACTAAATACTCTATACATTTAATTAATTTTGGTTTCTGGAACCTGACTTTACCATCACAGATAATCCATACATAACTGAAAACTTTAACCATGCCTTACAAACCTTTCTTCTAG... |
Task1_train_7177 | A variant has been detected on Chromosome 3 in CHMP2B (charged multivesicular body protein 2B). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | TTGTAACTGTGTTCTCTCTCTCTCTGTCTCTTTCTCAGTTGTTTTCATCATCAGCCTGGCTAGTGGTTTATCAATTTGATTGATCTCTTATTTAAAAAAAGAAAATAACTTTTGATTTTTTGTTTCATTGATTTTTCTATATGGATTTTTCTTTGTTTCTGTTTTTGTTTTTTGTTTTTTTTTTTTTGTTTTTTGTTTTTTGTTGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCGGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTC... | TTGTAACTGTGTTCTCTCTCTCTCTGTCTCTTTCTCAGTTGTTTTCATCATCAGCCTGGCTAGTGGTTTATCAATTTGATTGATCTCTTATTTAAAAAAAGAAAATAACTTTTGATTTTTTGTTTCATTGATTTTTCTATATGGATTTTTCTTTGTTTCTGTTTTTGTTTTTTGTTTTTTTTTTTTTGTTTTTTGTTTTTTGTTGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCGGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTC... |
Task1_train_7178 | Assess the clinical impact of this variant on gene CHMP2B (charged multivesicular body protein 2B), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | TCCAATGCCAGTGATGGCAGTTCTCAGCAGAGAAATTAACTTTTCCATTAAGCTATAATGAAAAGAATCAATAACCCTTACTTAATCAGATATCTATAATACCTACTGCAGTTGTTCTCATTTGTATTTTAATACATTACAAGTTAGTCTGTAATATAATTTAATGCATAGCAAGTTAGTCTGTAGTATAATAGTAGTTATTGATGGTTACTCATTTTTTTAATAACGTAGTAAAATACACTAACAATATTTTCATCCAAAAATAAATTCAAGGTGTAAATCAGCATATCTTTTTCAACTTGGAATTTATATTCTGCCAT... | TCCAATGCCAGTGATGGCAGTTCTCAGCAGAGAAATTAACTTTTCCATTAAGCTATAATGAAAAGAATCAATAACCCTTACTTAATCAGATATCTATAATACCTACTGCAGTTGTTCTCATTTGTATTTTAATACATTACAAGTTAGTCTGTAATATAATTTAATGCATAGCAAGTTAGTCTGTAGTATAATAGTAGTTATTGATGGTTACTCATTTTTTTAATAACGTAGTAAAATACACTAACAATATTTTCATCCAAAAATAAATTCAAGGTGTAAATCAGCATATCTTTTTCAACTTGGAATTTATATTCTGCCAT... |
Task1_train_7179 | A sequence alteration has been identified in CHMP2B (charged multivesicular body protein 2B) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | TACCTCTGATGAGCATTATTACACTTTTTCTGAAAGCATTCTTCTTTGTTAGTCTGATTACACCTTTCTAATCTTTTTCTTCTATCTACTTCATTCATTTTTTTTTTTCTGCAACTACTACTTTACTTATACTTATAAACTCTGCATGACCTGGACTTTGCATCTCCTGTATTACTTTGCTAAGTTACATCTGAGTAACATACCGCGAAATTATTTTTTTCCAGAGGCTTACCTTTGAGCATATTGACTAAATTCCTTTAGGGGTTTTCTGCTTACTACAAAATAAAATCCCCAAATTTTAAATAAAAGACAAGAAGGAA... | TACCTCTGATGAGCATTATTACACTTTTTCTGAAAGCATTCTTCTTTGTTAGTCTGATTACACCTTTCTAATCTTTTTCTTCTATCTACTTCATTCATTTTTTTTTTTCTGCAACTACTACTTTACTTATACTTATAAACTCTGCATGACCTGGACTTTGCATCTCCTGTATTACTTTGCTAAGTTACATCTGAGTAACATACCGCGAAATTATTTTTTTCCAGAGGCTTACCTTTGAGCATATTGACTAAATTCCTTTAGGGGTTTTCTGCTTACTACAAAATAAAATCCCCAAATTTTAAATAAAAGACAAGAAGGAA... |
Task1_train_7180 | This variant affects the gene POU1F1 (POU class 1 homeobox 1) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Pituitary hormone deficiency, combined, 1 | AAAATAATTTCTTTTAGGGAAAATACATGGTTCCCAATACTGGTAGTGTCTAAACTTGAAAATAATGACCTTATGGATGGATGTTTGATAATACTACTTATGATCTAAACATATTGATTTAAGCATATATACATGCTTATTTTTGTTACATAAAGTAAGAGTAAACATTACCAGAGGAATCATATTTAAAATGCAAAATAATCACTAATCTAGATTTATATTGCATGACATTTTGTTTCTATTTGCAAGTTTCAAAGTGCATATATACATTTTTGCATATATACGTATACATTTATGTATACATGATCTGGCTTTTAGCA... | AAAATAATTTCTTTTAGGGAAAATACATGGTTCCCAATACTGGTAGTGTCTAAACTTGAAAATAATGACCTTATGGATGGATGTTTGATAATACTACTTATGATCTAAACATATTGATTTAAGCATATATACATGCTTATTTTTGTTACATAAAGTAAGAGTAAACATTACCAGAGGAATCATATTTAAAATGCAAAATAATCACTAATCTAGATTTATATTGCATGACATTTTGTTTCTATTTGCAAGTTTCAAAGTGCATATATACATTTTTGCATATATACGTATACATTTATGTATACATGATCTGGCTTTTAGCA... |
Task1_train_7181 | This alteration in POU1F1 (POU class 1 homeobox 1) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Pituitary hormone deficiency, combined, 1 | TGGTTCCCAATACTGGTAGTGTCTAAACTTGAAAATAATGACCTTATGGATGGATGTTTGATAATACTACTTATGATCTAAACATATTGATTTAAGCATATATACATGCTTATTTTTGTTACATAAAGTAAGAGTAAACATTACCAGAGGAATCATATTTAAAATGCAAAATAATCACTAATCTAGATTTATATTGCATGACATTTTGTTTCTATTTGCAAGTTTCAAAGTGCATATATACATTTTTGCATATATACGTATACATTTATGTATACATGATCTGGCTTTTAGCAAACTAAAGAATCCCTTCCCCAGTTAAT... | TGGTTCCCAATACTGGTAGTGTCTAAACTTGAAAATAATGACCTTATGGATGGATGTTTGATAATACTACTTATGATCTAAACATATTGATTTAAGCATATATACATGCTTATTTTTGTTACATAAAGTAAGAGTAAACATTACCAGAGGAATCATATTTAAAATGCAAAATAATCACTAATCTAGATTTATATTGCATGACATTTTGTTTCTATTTGCAAGTTTCAAAGTGCATATATACATTTTTGCATATATACGTATACATTTATGTATACATGATCTGGCTTTTAGCAAACTAAAGAATCCCTTCCCCAGTTAAT... |
Task1_train_7182 | This genomic variant is located on Chromosome 3, within the POU1F1 (POU class 1 homeobox 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Pituitary hormone deficiency, combined, 1 | AGAAGGTTTATTCTGTTCTCCAAAGTGTCTCTCCAGAGCATCTTTAGCAGCAATGCTGGCGGGGGGTGGACATAGGGGGTGAAATTTTGTTGTTTTTAGTGAAGTTTTTGGCAGCTCAAAATTAAGGTAGGTTGAATTTCCTCAATATTAACATGAAAAGGAAACTTAAAAACTCTGAACACACTTGCAGGACACTTTAACAAGGACAAATGTATAATGTGTTAAATATGTAGATATTTTGTCTTATGTAAGGTAGAGTTACACGAGAGTCACGGAAAGCATTAAGTAGGGGACCCAGACTTTCTATGTTTTTCCCACTT... | AGAAGGTTTATTCTGTTCTCCAAAGTGTCTCTCCAGAGCATCTTTAGCAGCAATGCTGGCGGGGGGTGGACATAGGGGGTGAAATTTTGTTGTTTTTAGTGAAGTTTTTGGCAGCTCAAAATTAAGGTAGGTTGAATTTCCTCAATATTAACATGAAAAGGAAACTTAAAAACTCTGAACACACTTGCAGGACACTTTAACAAGGACAAATGTATAATGTGTTAAATATGTAGATATTTTGTCTTATGTAAGGTAGAGTTACACGAGAGTCACGGAAAGCATTAAGTAGGGGACCCAGACTTTCTATGTTTTTCCCACTT... |
Task1_train_7183 | Given this context: Chromosome 3, gene POU1F1 (POU class 1 homeobox 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Pituitary hormone deficiency, combined, 1 | TCTTTAGCAGCAATGCTGGCGGGGGGTGGACATAGGGGGTGAAATTTTGTTGTTTTTAGTGAAGTTTTTGGCAGCTCAAAATTAAGGTAGGTTGAATTTCCTCAATATTAACATGAAAAGGAAACTTAAAAACTCTGAACACACTTGCAGGACACTTTAACAAGGACAAATGTATAATGTGTTAAATATGTAGATATTTTGTCTTATGTAAGGTAGAGTTACACGAGAGTCACGGAAAGCATTAAGTAGGGGACCCAGACTTTCTATGTTTTTCCCACTTTGTGCCACCAGAGGGCACTGAGTTCTTGAGAAGAAAATGA... | TCTTTAGCAGCAATGCTGGCGGGGGGTGGACATAGGGGGTGAAATTTTGTTGTTTTTAGTGAAGTTTTTGGCAGCTCAAAATTAAGGTAGGTTGAATTTCCTCAATATTAACATGAAAAGGAAACTTAAAAACTCTGAACACACTTGCAGGACACTTTAACAAGGACAAATGTATAATGTGTTAAATATGTAGATATTTTGTCTTATGTAAGGTAGAGTTACACGAGAGTCACGGAAAGCATTAAGTAGGGGACCCAGACTTTCTATGTTTTTCCCACTTTGTGCCACCAGAGGGCACTGAGTTCTTGAGAAGAAAATGA... |
Task1_train_7184 | Consider this mutation in POU1F1 (POU class 1 homeobox 1) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | TTTTGGCAGCTCAAAATTAAGGTAGGTTGAATTTCCTCAATATTAACATGAAAAGGAAACTTAAAAACTCTGAACACACTTGCAGGACACTTTAACAAGGACAAATGTATAATGTGTTAAATATGTAGATATTTTGTCTTATGTAAGGTAGAGTTACACGAGAGTCACGGAAAGCATTAAGTAGGGGACCCAGACTTTCTATGTTTTTCCCACTTTGTGCCACCAGAGGGCACTGAGTTCTTGAGAAGAAAATGAACATTTTCCTAGACATTTCTAAATATCTCCCCAAAATCATTTAGGGCTGTTTACGATAAAGGAAA... | TTTTGGCAGCTCAAAATTAAGGTAGGTTGAATTTCCTCAATATTAACATGAAAAGGAAACTTAAAAACTCTGAACACACTTGCAGGACACTTTAACAAGGACAAATGTATAATGTGTTAAATATGTAGATATTTTGTCTTATGTAAGGTAGAGTTACACGAGAGTCACGGAAAGCATTAAGTAGGGGACCCAGACTTTCTATGTTTTTCCCACTTTGTGCCACCAGAGGGCACTGAGTTCTTGAGAAGAAAATGAACATTTTCCTAGACATTTCTAAATATCTCCCCAAAATCATTTAGGGCTGTTTACGATAAAGGAAA... |
Task1_train_7185 | An alteration has been detected in POU1F1 (POU class 1 homeobox 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Combined pituitary hormone deficiencies, genetic form | AAAGACCATCAGCTCCAACTTTCCAGGAAATGTTAATTTTGGTTCATTGTCACACAAATCTGTGTATCTTTGTCAACTATTACACACTATTTTTTAACTATATATTCTTGGCAAATCAGAATTATTTAGTAAGATTCATTATACTTTGAAGTACTTGTGCAATACTTCAAAACATATTTCTTCTAGTTAATAAATTACTTTTATCTAGTCACTGAAAGAATTCAGATAGAAACATCTGCCATTCATAATATTTAACCAGTGTTTAGGTGTGTCCTAAACACTTCATAAGGCACTTGAAAATTATGGCTTTTTTATCATTA... | AAAGACCATCAGCTCCAACTTTCCAGGAAATGTTAATTTTGGTTCATTGTCACACAAATCTGTGTATCTTTGTCAACTATTACACACTATTTTTTAACTATATATTCTTGGCAAATCAGAATTATTTAGTAAGATTCATTATACTTTGAAGTACTTGTGCAATACTTCAAAACATATTTCTTCTAGTTAATAAATTACTTTTATCTAGTCACTGAAAGAATTCAGATAGAAACATCTGCCATTCATAATATTTAACCAGTGTTTAGGTGTGTCCTAAACACTTCATAAGGCACTTGAAAATTATGGCTTTTTTATCATTA... |
Task1_train_7186 | The variant affects gene POU1F1 (POU class 1 homeobox 1), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Pituitary hormone deficiency, combined, 1 | AGGAAATGTTAATTTTGGTTCATTGTCACACAAATCTGTGTATCTTTGTCAACTATTACACACTATTTTTTAACTATATATTCTTGGCAAATCAGAATTATTTAGTAAGATTCATTATACTTTGAAGTACTTGTGCAATACTTCAAAACATATTTCTTCTAGTTAATAAATTACTTTTATCTAGTCACTGAAAGAATTCAGATAGAAACATCTGCCATTCATAATATTTAACCAGTGTTTAGGTGTGTCCTAAACACTTCATAAGGCACTTGAAAATTATGGCTTTTTTATCATTATTGTTAGTTATCAAATAATATATG... | AGGAAATGTTAATTTTGGTTCATTGTCACACAAATCTGTGTATCTTTGTCAACTATTACACACTATTTTTTAACTATATATTCTTGGCAAATCAGAATTATTTAGTAAGATTCATTATACTTTGAAGTACTTGTGCAATACTTCAAAACATATTTCTTCTAGTTAATAAATTACTTTTATCTAGTCACTGAAAGAATTCAGATAGAAACATCTGCCATTCATAATATTTAACCAGTGTTTAGGTGTGTCCTAAACACTTCATAAGGCACTTGAAAATTATGGCTTTTTTATCATTATTGTTAGTTATCAAATAATATATG... |
Task1_train_7187 | A variant found in Chromosome 3 affects POU1F1 (POU class 1 homeobox 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Pituitary hormone deficiency, combined, 1 | ACTGGTTTTAATCTTGGTGCCAACCTCAATCAACTGGCAGGGACTGCCTCTGTGCTGGGTTAAGAGAGAAACTAACAATGTACCTTGGTTCCTGGGAGTTCCTCTAAATGAACTGTAAGGTCTTTCCTCCAGGAAACAGTGGCATGTGTTTGTCATTTCCTGTCTCATAATCAAAATGCTGTAAAGGCCACAGAAAGCAATCCACCCGCACCTCCAGTAGCTAAACGCATTTATTTTACTATTTTATAATGACAGTAGTTCATCATTGAGGAGGGCTATTCTCATTAACCATGAATACTAATTAAGCATGTTGATCATAA... | ACTGGTTTTAATCTTGGTGCCAACCTCAATCAACTGGCAGGGACTGCCTCTGTGCTGGGTTAAGAGAGAAACTAACAATGTACCTTGGTTCCTGGGAGTTCCTCTAAATGAACTGTAAGGTCTTTCCTCCAGGAAACAGTGGCATGTGTTTGTCATTTCCTGTCTCATAATCAAAATGCTGTAAAGGCCACAGAAAGCAATCCACCCGCACCTCCAGTAGCTAAACGCATTTATTTTACTATTTTATAATGACAGTAGTTCATCATTGAGGAGGGCTATTCTCATTAACCATGAATACTAATTAAGCATGTTGATCATAA... |
Task1_train_7188 | A mutation on Chromosome 3 affecting POU1F1 (POU class 1 homeobox 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Pituitary hormone deficiency, combined, 1 | GGTTTTAATCTTGGTGCCAACCTCAATCAACTGGCAGGGACTGCCTCTGTGCTGGGTTAAGAGAGAAACTAACAATGTACCTTGGTTCCTGGGAGTTCCTCTAAATGAACTGTAAGGTCTTTCCTCCAGGAAACAGTGGCATGTGTTTGTCATTTCCTGTCTCATAATCAAAATGCTGTAAAGGCCACAGAAAGCAATCCACCCGCACCTCCAGTAGCTAAACGCATTTATTTTACTATTTTATAATGACAGTAGTTCATCATTGAGGAGGGCTATTCTCATTAACCATGAATACTAATTAAGCATGTTGATCATAAATA... | GGTTTTAATCTTGGTGCCAACCTCAATCAACTGGCAGGGACTGCCTCTGTGCTGGGTTAAGAGAGAAACTAACAATGTACCTTGGTTCCTGGGAGTTCCTCTAAATGAACTGTAAGGTCTTTCCTCCAGGAAACAGTGGCATGTGTTTGTCATTTCCTGTCTCATAATCAAAATGCTGTAAAGGCCACAGAAAGCAATCCACCCGCACCTCCAGTAGCTAAACGCATTTATTTTACTATTTTATAATGACAGTAGTTCATCATTGAGGAGGGCTATTCTCATTAACCATGAATACTAATTAAGCATGTTGATCATAAATA... |
Task1_train_7189 | The following genetic variant occurs in POU1F1 (POU class 1 homeobox 1) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Pituitary hormone deficiency, combined, 1 | TTAATCTTGGTGCCAACCTCAATCAACTGGCAGGGACTGCCTCTGTGCTGGGTTAAGAGAGAAACTAACAATGTACCTTGGTTCCTGGGAGTTCCTCTAAATGAACTGTAAGGTCTTTCCTCCAGGAAACAGTGGCATGTGTTTGTCATTTCCTGTCTCATAATCAAAATGCTGTAAAGGCCACAGAAAGCAATCCACCCGCACCTCCAGTAGCTAAACGCATTTATTTTACTATTTTATAATGACAGTAGTTCATCATTGAGGAGGGCTATTCTCATTAACCATGAATACTAATTAAGCATGTTGATCATAAATAATCA... | TTAATCTTGGTGCCAACCTCAATCAACTGGCAGGGACTGCCTCTGTGCTGGGTTAAGAGAGAAACTAACAATGTACCTTGGTTCCTGGGAGTTCCTCTAAATGAACTGTAAGGTCTTTCCTCCAGGAAACAGTGGCATGTGTTTGTCATTTCCTGTCTCATAATCAAAATGCTGTAAAGGCCACAGAAAGCAATCCACCCGCACCTCCAGTAGCTAAACGCATTTATTTTACTATTTTATAATGACAGTAGTTCATCATTGAGGAGGGCTATTCTCATTAACCATGAATACTAATTAAGCATGTTGATCATAAATAATCA... |
Task1_train_7190 | A mutation on Chromosome 3 affecting POU1F1 (POU class 1 homeobox 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | TATATTTTATTTTCTCAATTTTTTCCTTCATATTCTGAATATATTGGTTAATTTTCATAAATTAATTTTCTTGAATAAATGAGATATTATAAAGTATGGTTAGAATCCTTTGAGAATACCAATATACAAACTAGTGATTAAAGACATGCCTTTCTTCATAAAGTAAAATAAATTATTTTAAAATAGAGAAAAATCTTTAATTTTTAAAAATCTGTATACATTTTTATTTTATAATTAATAGCTCAAAAGAACTAAAGTCATTTTGCAATATAATGATTACATATAATGCATTACTGTGCATTCCAAAATTAAGCAAATTA... | TATATTTTATTTTCTCAATTTTTTCCTTCATATTCTGAATATATTGGTTAATTTTCATAAATTAATTTTCTTGAATAAATGAGATATTATAAAGTATGGTTAGAATCCTTTGAGAATACCAATATACAAACTAGTGATTAAAGACATGCCTTTCTTCATAAAGTAAAATAAATTATTTTAAAATAGAGAAAAATCTTTAATTTTTAAAAATCTGTATACATTTTTATTTTATAATTAATAGCTCAAAAGAACTAAAGTCATTTTGCAATATAATGATTACATATAATGCATTACTGTGCATTCCAAAATTAAGCAAATTA... |
Task1_train_7191 | This alteration occurs within gene PROS1 (protein S) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Protein S deficiency disease | TAGGTGAATAGTCCTGTTCTTACAGATTAACCATTGCTTTCACTGATCCATCACTGACCGCTGCAAATGGTTAAGTTCTATTACCATCTCACATAACATGTTCAAAAAGTAAAAAGAAAAAAGAAAGCTTTTTCAAAAGGTGAATTCTAAGGGACTCTGTAATGGCCCTGTTATTTGGAGTTTTTTTTACTTATATACAAAGCTGAAATGGCACCAAATATCCACTTTGCCTTGTTCTCTACCAACTCTTTAAAAGTAGGAATCTATATTTCTTGGCAAAGTTCAAAACTAAACATCAATCAAAGATTCTTAGCCATAGG... | TAGGTGAATAGTCCTGTTCTTACAGATTAACCATTGCTTTCACTGATCCATCACTGACCGCTGCAAATGGTTAAGTTCTATTACCATCTCACATAACATGTTCAAAAAGTAAAAAGAAAAAAGAAAGCTTTTTCAAAAGGTGAATTCTAAGGGACTCTGTAATGGCCCTGTTATTTGGAGTTTTTTTTACTTATATACAAAGCTGAAATGGCACCAAATATCCACTTTGCCTTGTTCTCTACCAACTCTTTAAAAGTAGGAATCTATATTTCTTGGCAAAGTTCAAAACTAAACATCAATCAAAGATTCTTAGCCATAGG... |
Task1_train_7192 | The gene PROS1 (protein S) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Thrombophilia due to protein S deficiency, autosomal recessive | CTATTACCATCTCACATAACATGTTCAAAAAGTAAAAAGAAAAAAGAAAGCTTTTTCAAAAGGTGAATTCTAAGGGACTCTGTAATGGCCCTGTTATTTGGAGTTTTTTTTACTTATATACAAAGCTGAAATGGCACCAAATATCCACTTTGCCTTGTTCTCTACCAACTCTTTAAAAGTAGGAATCTATATTTCTTGGCAAAGTTCAAAACTAAACATCAATCAAAGATTCTTAGCCATAGGTCTAGACCCTCTCTCTAGGCATGTATGAGCACATCTCAAAGGTAGATGAAATTTATAAATGCGTCTCTGGAGCCTCT... | CTATTACCATCTCACATAACATGTTCAAAAAGTAAAAAGAAAAAAGAAAGCTTTTTCAAAAGGTGAATTCTAAGGGACTCTGTAATGGCCCTGTTATTTGGAGTTTTTTTTACTTATATACAAAGCTGAAATGGCACCAAATATCCACTTTGCCTTGTTCTCTACCAACTCTTTAAAAGTAGGAATCTATATTTCTTGGCAAAGTTCAAAACTAAACATCAATCAAAGATTCTTAGCCATAGGTCTAGACCCTCTCTCTAGGCATGTATGAGCACATCTCAAAGGTAGATGAAATTTATAAATGCGTCTCTGGAGCCTCT... |
Task1_train_7193 | This sequence change occurs on Chromosome 3, altering PROS1 (protein S). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Protein S deficiency disease | TTACCATCTCACATAACATGTTCAAAAAGTAAAAAGAAAAAAGAAAGCTTTTTCAAAAGGTGAATTCTAAGGGACTCTGTAATGGCCCTGTTATTTGGAGTTTTTTTTACTTATATACAAAGCTGAAATGGCACCAAATATCCACTTTGCCTTGTTCTCTACCAACTCTTTAAAAGTAGGAATCTATATTTCTTGGCAAAGTTCAAAACTAAACATCAATCAAAGATTCTTAGCCATAGGTCTAGACCCTCTCTCTAGGCATGTATGAGCACATCTCAAAGGTAGATGAAATTTATAAATGCGTCTCTGGAGCCTCTACG... | TTACCATCTCACATAACATGTTCAAAAAGTAAAAAGAAAAAAGAAAGCTTTTTCAAAAGGTGAATTCTAAGGGACTCTGTAATGGCCCTGTTATTTGGAGTTTTTTTTACTTATATACAAAGCTGAAATGGCACCAAATATCCACTTTGCCTTGTTCTCTACCAACTCTTTAAAAGTAGGAATCTATATTTCTTGGCAAAGTTCAAAACTAAACATCAATCAAAGATTCTTAGCCATAGGTCTAGACCCTCTCTCTAGGCATGTATGAGCACATCTCAAAGGTAGATGAAATTTATAAATGCGTCTCTGGAGCCTCTACG... |
Task1_train_7194 | The following genetic variant occurs in PROS1 (protein S) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Thrombophilia due to protein S deficiency, autosomal recessive | TTACCATCTCACATAACATGTTCAAAAAGTAAAAAGAAAAAAGAAAGCTTTTTCAAAAGGTGAATTCTAAGGGACTCTGTAATGGCCCTGTTATTTGGAGTTTTTTTTACTTATATACAAAGCTGAAATGGCACCAAATATCCACTTTGCCTTGTTCTCTACCAACTCTTTAAAAGTAGGAATCTATATTTCTTGGCAAAGTTCAAAACTAAACATCAATCAAAGATTCTTAGCCATAGGTCTAGACCCTCTCTCTAGGCATGTATGAGCACATCTCAAAGGTAGATGAAATTTATAAATGCGTCTCTGGAGCCTCTACG... | TTACCATCTCACATAACATGTTCAAAAAGTAAAAAGAAAAAAGAAAGCTTTTTCAAAAGGTGAATTCTAAGGGACTCTGTAATGGCCCTGTTATTTGGAGTTTTTTTTACTTATATACAAAGCTGAAATGGCACCAAATATCCACTTTGCCTTGTTCTCTACCAACTCTTTAAAAGTAGGAATCTATATTTCTTGGCAAAGTTCAAAACTAAACATCAATCAAAGATTCTTAGCCATAGGTCTAGACCCTCTCTCTAGGCATGTATGAGCACATCTCAAAGGTAGATGAAATTTATAAATGCGTCTCTGGAGCCTCTACG... |
Task1_train_7195 | A genetic alteration is present in PROS1 (protein S) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Thrombophilia due to protein S deficiency, autosomal recessive | AAAGTTCCTACTTTACTATGACTGTGAGCTCATAGCATTTGTTAAGAATCCCTTTCAAGTTGGGCTAAACATCATAGATTATGCCACTTTTCCTTTTTTGAGAAAAGAAATTACTCAAATTCATTCGATTTTGAGGAAAGAAATTACTCAAAATCATTCATTTCTCTTGGGTTTTAGTACTTCACATGGAATTTTACATGCCTACTTTGCATGTAATTAATAATTTACCCATCTCACAGTTTATACTCTTAATATCTCAATATTTAGCTCCTCTCAAATCTTCCCCACTCTTTCTCTCAAGACATTTTGCCTGAAGTTAG... | AAAGTTCCTACTTTACTATGACTGTGAGCTCATAGCATTTGTTAAGAATCCCTTTCAAGTTGGGCTAAACATCATAGATTATGCCACTTTTCCTTTTTTGAGAAAAGAAATTACTCAAATTCATTCGATTTTGAGGAAAGAAATTACTCAAAATCATTCATTTCTCTTGGGTTTTAGTACTTCACATGGAATTTTACATGCCTACTTTGCATGTAATTAATAATTTACCCATCTCACAGTTTATACTCTTAATATCTCAATATTTAGCTCCTCTCAAATCTTCCCCACTCTTTCTCTCAAGACATTTTGCCTGAAGTTAG... |
Task1_train_7196 | This variant impacts the gene PROS1 (protein S) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Thrombophilia due to protein S deficiency, autosomal dominant | TAGGTAATACAATTTCACACACTTCAAACCTTTTCGGCCACTTTTCTTCTGCCCTTATCTGCTTAACCTCTAGAAATTATCATTGGTATTGGTTCCTCACCTGCTGATTTCTGGCAAACGAAATTTTAAATATAAAACAACCCCTGCAAACTGCTCCGCCAAGTAAAGTAATTCATACTTTGTGTCAAGGTTCAAGGGAAGGCACACTGAAACAACCTGGAATAAAAGAAACCAAATAAACAACAAGAAAATCAAAATGCACAGGTTATTGCTTAATGTTTGTGTGAGGTCATGCATTTTTGTTTGGTTACTAATGTATC... | TAGGTAATACAATTTCACACACTTCAAACCTTTTCGGCCACTTTTCTTCTGCCCTTATCTGCTTAACCTCTAGAAATTATCATTGGTATTGGTTCCTCACCTGCTGATTTCTGGCAAACGAAATTTTAAATATAAAACAACCCCTGCAAACTGCTCCGCCAAGTAAAGTAATTCATACTTTGTGTCAAGGTTCAAGGGAAGGCACACTGAAACAACCTGGAATAAAAGAAACCAAATAAACAACAAGAAAATCAAAATGCACAGGTTATTGCTTAATGTTTGTGTGAGGTCATGCATTTTTGTTTGGTTACTAATGTATC... |
Task1_train_7197 | Given this variant in gene PROS1 (protein S) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Thrombophilia due to protein S deficiency, autosomal dominant | TCGGCCACTTTTCTTCTGCCCTTATCTGCTTAACCTCTAGAAATTATCATTGGTATTGGTTCCTCACCTGCTGATTTCTGGCAAACGAAATTTTAAATATAAAACAACCCCTGCAAACTGCTCCGCCAAGTAAAGTAATTCATACTTTGTGTCAAGGTTCAAGGGAAGGCACACTGAAACAACCTGGAATAAAAGAAACCAAATAAACAACAAGAAAATCAAAATGCACAGGTTATTGCTTAATGTTTGTGTGAGGTCATGCATTTTTGTTTGGTTACTAATGTATCATCTGTAATACACTAAAATAATTAAGAATATTT... | TCGGCCACTTTTCTTCTGCCCTTATCTGCTTAACCTCTAGAAATTATCATTGGTATTGGTTCCTCACCTGCTGATTTCTGGCAAACGAAATTTTAAATATAAAACAACCCCTGCAAACTGCTCCGCCAAGTAAAGTAATTCATACTTTGTGTCAAGGTTCAAGGGAAGGCACACTGAAACAACCTGGAATAAAAGAAACCAAATAAACAACAAGAAAATCAAAATGCACAGGTTATTGCTTAATGTTTGTGTGAGGTCATGCATTTTTGTTTGGTTACTAATGTATCATCTGTAATACACTAAAATAATTAAGAATATTT... |
Task1_train_7198 | This sequence variant lies in PROS1 (protein S) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Thrombophilia due to protein S deficiency, autosomal recessive | ACAAAAATTAATTTATAACTTTCAGTGATTAAGTAAAGTATAACAATTCTACCAAATTTCTCATTTTGAATTTGAAGAAAAAAAAGATTGAGAATCTCAACTTAACTGTCATTTCTGATCATTTGAATTTCATTGAGATTACCTCACAATTCATTGCTTTGAAAAAAAGAAAAAAGAAATGAGAAGGGAAAGAGGAAGGGAGAGCATGATGGGGAAGTAAAGGAAAGGAAAGTTAGGGAAGGGAAGGGAAGAAAAGACCCCTTTAACTGAAGGTTGATACAATCAGGAATTAAATGACAATATCAAGAACATTGGAACAC... | ACAAAAATTAATTTATAACTTTCAGTGATTAAGTAAAGTATAACAATTCTACCAAATTTCTCATTTTGAATTTGAAGAAAAAAAAGATTGAGAATCTCAACTTAACTGTCATTTCTGATCATTTGAATTTCATTGAGATTACCTCACAATTCATTGCTTTGAAAAAAAGAAAAAAGAAATGAGAAGGGAAAGAGGAAGGGAGAGCATGATGGGGAAGTAAAGGAAAGGAAAGTTAGGGAAGGGAAGGGAAGAAAAGACCCCTTTAACTGAAGGTTGATACAATCAGGAATTAAATGACAATATCAAGAACATTGGAACAC... |
Task1_train_7199 | Gene PROS1 (protein S) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Protein S deficiency disease | ACAAAAATTAATTTATAACTTTCAGTGATTAAGTAAAGTATAACAATTCTACCAAATTTCTCATTTTGAATTTGAAGAAAAAAAAGATTGAGAATCTCAACTTAACTGTCATTTCTGATCATTTGAATTTCATTGAGATTACCTCACAATTCATTGCTTTGAAAAAAAGAAAAAAGAAATGAGAAGGGAAAGAGGAAGGGAGAGCATGATGGGGAAGTAAAGGAAAGGAAAGTTAGGGAAGGGAAGGGAAGAAAAGACCCCTTTAACTGAAGGTTGATACAATCAGGAATTAAATGACAATATCAAGAACATTGGAACAC... | ACAAAAATTAATTTATAACTTTCAGTGATTAAGTAAAGTATAACAATTCTACCAAATTTCTCATTTTGAATTTGAAGAAAAAAAAGATTGAGAATCTCAACTTAACTGTCATTTCTGATCATTTGAATTTCATTGAGATTACCTCACAATTCATTGCTTTGAAAAAAAGAAAAAAGAAATGAGAAGGGAAAGAGGAAGGGAGAGCATGATGGGGAAGTAAAGGAAAGGAAAGTTAGGGAAGGGAAGGGAAGAAAAGACCCCTTTAACTGAAGGTTGATACAATCAGGAATTAAATGACAATATCAAGAACATTGGAACAC... |
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