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 |
|---|---|---|---|---|
Task1_train_13600 | A mutation in GRIN1 (glutamate ionotropic receptor NMDA type subunit 1), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Intellectual disability, autosomal dominant 8 | CCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATT... | CCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATT... |
Task1_train_13601 | Given this variant in gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Intellectual disability, autosomal dominant 8 | ATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAG... | ATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAG... |
Task1_train_13602 | The gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Intellectual disability, autosomal dominant 8 | CCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTG... | CCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTG... |
Task1_train_13603 | A mutation found in GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Intellectual disability, autosomal dominant 8 | GGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTC... | GGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTC... |
Task1_train_13604 | Chromosome 9 houses a mutation in gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; GRIN1-related disorder | ACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACA... | ACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACA... |
Task1_train_13605 | Consider this mutation in GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9. Is this a benign change or a disease-causing variant? | Pathogenic; Inborn genetic diseases | ACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACA... | ACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACA... |
Task1_train_13606 | Given this variant in gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Intellectual disability, autosomal dominant 8 | ACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACA... | ACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACA... |
Task1_train_13607 | This genomic variant is located on Chromosome 9, within the GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Intellectual disability, autosomal dominant 8 | ACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACA... | ACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACA... |
Task1_train_13608 | An alteration has been detected in GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Intellectual disability, autosomal dominant 8 | GCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACA... | GCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACA... |
Task1_train_13609 | This gene mutation involves GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Intellectual disability, autosomal dominant 8 | GGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATC... | GGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATC... |
Task1_train_13610 | This genomic variant is located on Chromosome 9, within the GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Intellectual disability, autosomal dominant 8 | CCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGG... | CCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGG... |
Task1_train_13611 | Gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Neurodevelopmental disorder | CCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGG... | CCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGG... |
Task1_train_13612 | Consider a variant on Chromosome 9 in gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1). Determine its clinical classification and disease relevance. | Pathogenic; Self-limited epilepsy with centrotemporal spikes | AGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGT... | AGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGT... |
Task1_train_13613 | This mutation occurs in SLC34A3 (solute carrier family 34 member 3) on Chromosome 9. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive hypophosphatemic bone disease | AAGGCAGCAGCTTCGGGGCCAGGAGCCTTGAAGTGGTGTGAGGACCCCACCTGCTCCCCATCACCAGGGCGTGGGGCCCTTATCAAGCCGAGACGTCACTGTTTAGTATCAAATGCCAAAGTCTAAGTCGGGACCATCCACAGTGTCCCCGATGACACCAGATAGGGGAGGTCCCCAGGTTCCCCAGCTCATGGCCTGCACCCTCGGCACTAGCCTTCCAGTCAGGACCAGCAAGGGAGCCGGGGAGCTGGAGCCCCTTCGAGTCTACCCCTGAAACTGGACTGGGCTCGCCTGACAACTGCCTGAGGTCATTGTAGCCA... | AAGGCAGCAGCTTCGGGGCCAGGAGCCTTGAAGTGGTGTGAGGACCCCACCTGCTCCCCATCACCAGGGCGTGGGGCCCTTATCAAGCCGAGACGTCACTGTTTAGTATCAAATGCCAAAGTCTAAGTCGGGACCATCCACAGTGTCCCCGATGACACCAGATAGGGGAGGTCCCCAGGTTCCCCAGCTCATGGCCTGCACCCTCGGCACTAGCCTTCCAGTCAGGACCAGCAAGGGAGCCGGGGAGCTGGAGCCCCTTCGAGTCTACCCCTGAAACTGGACTGGGCTCGCCTGACAACTGCCTGAGGTCATTGTAGCCA... |
Task1_train_13614 | Gene SLC34A3 (solute carrier family 34 member 3) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal recessive hypophosphatemic bone disease | TTCGGGGCCAGGAGCCTTGAAGTGGTGTGAGGACCCCACCTGCTCCCCATCACCAGGGCGTGGGGCCCTTATCAAGCCGAGACGTCACTGTTTAGTATCAAATGCCAAAGTCTAAGTCGGGACCATCCACAGTGTCCCCGATGACACCAGATAGGGGAGGTCCCCAGGTTCCCCAGCTCATGGCCTGCACCCTCGGCACTAGCCTTCCAGTCAGGACCAGCAAGGGAGCCGGGGAGCTGGAGCCCCTTCGAGTCTACCCCTGAAACTGGACTGGGCTCGCCTGACAACTGCCTGAGGTCATTGTAGCCATCCCCCTGTGG... | TTCGGGGCCAGGAGCCTTGAAGTGGTGTGAGGACCCCACCTGCTCCCCATCACCAGGGCGTGGGGCCCTTATCAAGCCGAGACGTCACTGTTTAGTATCAAATGCCAAAGTCTAAGTCGGGACCATCCACAGTGTCCCCGATGACACCAGATAGGGGAGGTCCCCAGGTTCCCCAGCTCATGGCCTGCACCCTCGGCACTAGCCTTCCAGTCAGGACCAGCAAGGGAGCCGGGGAGCTGGAGCCCCTTCGAGTCTACCCCTGAAACTGGACTGGGCTCGCCTGACAACTGCCTGAGGTCATTGTAGCCATCCCCCTGTGG... |
Task1_train_13615 | Given a variant located on Chromosome 9 and affecting SLC34A3 (solute carrier family 34 member 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autosomal recessive hypophosphatemic bone disease | GTGTCCTCAGAGCTCCGCGTGGCCGGCAGGCTGCGCCGCGTGGCCGGCAGCGTCCTCAAGGCCTGCGGGCTCCTCGGCAGCCTGTACTTCTTCATCTGCTCTCTGGACGTCCTCAGCTCCGCCTTCCAGCTGCTGGGCAGTGAGTGACGGGACGGGTGCCCAGGGCGGGGCGGGCAACCAGCCCTCCGCAGCTTCAGCGCACCTCTCTTGCCGGTGTAGGCAAAGTGGCCGGAGACATCTTCAAGGACAACGTGGTGCTGTCCAACCCTGTGGCTGGACTGGTCATTGGCGTGCTGGTCACAGCCCTGGTGCAGAGTTCC... | GTGTCCTCAGAGCTCCGCGTGGCCGGCAGGCTGCGCCGCGTGGCCGGCAGCGTCCTCAAGGCCTGCGGGCTCCTCGGCAGCCTGTACTTCTTCATCTGCTCTCTGGACGTCCTCAGCTCCGCCTTCCAGCTGCTGGGCAGTGAGTGACGGGACGGGTGCCCAGGGCGGGGCGGGCAACCAGCCCTCCGCAGCTTCAGCGCACCTCTCTTGCCGGTGTAGGCAAAGTGGCCGGAGACATCTTCAAGGACAACGTGGTGCTGTCCAACCCTGTGGCTGGACTGGTCATTGGCGTGCTGGTCACAGCCCTGGTGCAGAGTTCC... |
Task1_train_13616 | This sequence variant lies in SLC34A3 (solute carrier family 34 member 3) on Chromosome 9. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal recessive hypophosphatemic bone disease | ACACCCCCCACACTCCCCCTCACCGGCCCCTACATGGAGAGGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCGGCCCACCCCCCAGGCTCCCCCTCACCTGCCCCTGCCCTGCCCCCAGGCCGCCACCTGTTTGCGGGCACGGAGCTCACGGACCTGGCCGTGGGCTGCATCCTGCTGGCCGGCTCCCTGCTGGTGCTCTGCGGCTGCCTGGTCCTCATAGTCAAGCTGCTCAACTCTGTGCTGCGCGGCCGCGTGGCCCAGGTCGTGAGGACAGTCATCAATGCGGGTGAGGGCGTGGG... | ACACCCCCCACACTCCCCCTCACCGGCCCCTACATGGAGAGGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCGGCCCACCCCCCAGGCTCCCCCTCACCTGCCCCTGCCCTGCCCCCAGGCCGCCACCTGTTTGCGGGCACGGAGCTCACGGACCTGGCCGTGGGCTGCATCCTGCTGGCCGGCTCCCTGCTGGTGCTCTGCGGCTGCCTGGTCCTCATAGTCAAGCTGCTCAACTCTGTGCTGCGCGGCCGCGTGGCCCAGGTCGTGAGGACAGTCATCAATGCGGGTGAGGGCGTGGG... |
Task1_train_13617 | This mutation occurs in EHMT1 (euchromatic histone lysine methyltransferase 1) on Chromosome 9. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Kleefstra syndrome 1 | GGATGGAGTGTGTGTTTGGCTGCTGGGGAAGGACAGGGAACTGTGGGTGCTCCAGGCACCAGCCTCCAGTGACTCCCTGGCCCCTACACATGGGGCTGTGCCCTCCCACATGTGGATCTCACGGTGGCTCAGCCAGGTTGGTCATCTGGTTGTGTGAAGCCCAGCTCCACGTACGATGACTGCAGTCTGGATGCAGTGAGCAGGAGTGGAACTGAGGACTGCTCACGCTGTGCGTGGCCCAAGCTTGGCCTCTCTCCCTCCTTGCTTCCCTTCTTATCCTTGAGGGTAAATTTGAATGAAAAATCCAAGAAAAATCAAAT... | GGATGGAGTGTGTGTTTGGCTGCTGGGGAAGGACAGGGAACTGTGGGTGCTCCAGGCACCAGCCTCCAGTGACTCCCTGGCCCCTACACATGGGGCTGTGCCCTCCCACATGTGGATCTCACGGTGGCTCAGCCAGGTTGGTCATCTGGTTGTGTGAAGCCCAGCTCCACGTACGATGACTGCAGTCTGGATGCAGTGAGCAGGAGTGGAACTGAGGACTGCTCACGCTGTGCGTGGCCCAAGCTTGGCCTCTCTCCCTCCTTGCTTCCCTTCTTATCCTTGAGGGTAAATTTGAATGAAAAATCCAAGAAAAATCAAAT... |
Task1_train_13618 | This alteration occurs within gene EHMT1 (euchromatic histone lysine methyltransferase 1) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Kleefstra syndrome 1 | CACTGCTTGCGCCTTCTCGAGCACTTTCCTTGTGGCTCTGCTTGTGGGCAGCTCCCTCCTCTTCCCAGGCCGGGCACTGCCCAGGCCCCCCCCCCCCCCCGCCCCCCGCCCCACAAGGTGTGTCAGGCTCTGTGTTCTTGCCTTTCCCATCGAGCATCTGGCCACAAATGCAGCCGCCGCCCAGCCCTTCACCCACCCCACGTCACCCACTGCCGCGTCGCTGCCCTGCCTGCCCCCTGTCCCTCTGTCAGGGTCCTCAGCCAGAGCTCCCTCCCACAGGCACTCGACATGTTTCTGCCTGCACAGCCTTCTCCCTAAGA... | CACTGCTTGCGCCTTCTCGAGCACTTTCCTTGTGGCTCTGCTTGTGGGCAGCTCCCTCCTCTTCCCAGGCCGGGCACTGCCCAGGCCCCCCCCCCCCCCCGCCCCCCGCCCCACAAGGTGTGTCAGGCTCTGTGTTCTTGCCTTTCCCATCGAGCATCTGGCCACAAATGCAGCCGCCGCCCAGCCCTTCACCCACCCCACGTCACCCACTGCCGCGTCGCTGCCCTGCCTGCCCCCTGTCCCTCTGTCAGGGTCCTCAGCCAGAGCTCCCTCCCACAGGCACTCGACATGTTTCTGCCTGCACAGCCTTCTCCCTAAGA... |
Task1_train_13619 | An alteration has been detected in TUBB8 (tubulin beta 8 class VIII) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Oocyte maturation defect 2 | CGCCTTGCTTGCCAGGCTGGAAGAGGGGCTCCAGAAACTTGGGAAACCTGGGCCTGTAGCTGGCATGTGGAAAAGAGGCCTGGAAAAGCACCATTCCTGTCCATGAAGCCCCCAGATGGAACCAGGTAATTGGGAAATACATGGGCACCAAGCCTGAACCCCCCTCAGACCCAGGTGGGAACTGCAGTGGTGACTTGCCCCCTCTGCCAGTCTGGCTGTACCACTACAGGAGGGAGGAACATCTAGCCCCACACGTGAGTGGAGACACCAGGTGTGGGCAGGTTCCAGTGGTTGCTGCAGCTGAACCTTCCTAACCAGGT... | CGCCTTGCTTGCCAGGCTGGAAGAGGGGCTCCAGAAACTTGGGAAACCTGGGCCTGTAGCTGGCATGTGGAAAAGAGGCCTGGAAAAGCACCATTCCTGTCCATGAAGCCCCCAGATGGAACCAGGTAATTGGGAAATACATGGGCACCAAGCCTGAACCCCCCTCAGACCCAGGTGGGAACTGCAGTGGTGACTTGCCCCCTCTGCCAGTCTGGCTGTACCACTACAGGAGGGAGGAACATCTAGCCCCACACGTGAGTGGAGACACCAGGTGTGGGCAGGTTCCAGTGGTTGCTGCAGCTGAACCTTCCTAACCAGGT... |
Task1_train_13620 | Chromosome 10 houses a mutation in gene TUBB8 (tubulin beta 8 class VIII). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Oocyte maturation defect 2 | CCCTCAGACCCAGGTGGGAACTGCAGTGGTGACTTGCCCCCTCTGCCAGTCTGGCTGTACCACTACAGGAGGGAGGAACATCTAGCCCCACACGTGAGTGGAGACACCAGGTGTGGGCAGGTTCCAGTGGTTGCTGCAGCTGAACCTTCCTAACCAGGTCCATGCGAGACCATCTCAGATGGGTGTGCACCTGGGTTGGGCAAGGACACCCCTCAGACAGTGAGAGCCACTGAGGAGGGCTGTCACAGAGGCCCCTTTTCCTGCTCTTAGAACAGGTTGGGCGAGTATGGGGGAGTGTGGGGGAGTATGGGGGAGTATGG... | CCCTCAGACCCAGGTGGGAACTGCAGTGGTGACTTGCCCCCTCTGCCAGTCTGGCTGTACCACTACAGGAGGGAGGAACATCTAGCCCCACACGTGAGTGGAGACACCAGGTGTGGGCAGGTTCCAGTGGTTGCTGCAGCTGAACCTTCCTAACCAGGTCCATGCGAGACCATCTCAGATGGGTGTGCACCTGGGTTGGGCAAGGACACCCCTCAGACAGTGAGAGCCACTGAGGAGGGCTGTCACAGAGGCCCCTTTTCCTGCTCTTAGAACAGGTTGGGCGAGTATGGGGGAGTGTGGGGGAGTATGGGGGAGTATGG... |
Task1_train_13621 | Located on Chromosome 10, this mutation impacts TUBB8 (tubulin beta 8 class VIII). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Oocyte maturation defect 2 | AGACCATCTCAGATGGGTGTGCACCTGGGTTGGGCAAGGACACCCCTCAGACAGTGAGAGCCACTGAGGAGGGCTGTCACAGAGGCCCCTTTTCCTGCTCTTAGAACAGGTTGGGCGAGTATGGGGGAGTGTGGGGGAGTATGGGGGAGTATGGGGGACCTCTCCCACCTCCCAGCTGCTTCCAGGAGCCACTTCTTTCGAGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCC... | AGACCATCTCAGATGGGTGTGCACCTGGGTTGGGCAAGGACACCCCTCAGACAGTGAGAGCCACTGAGGAGGGCTGTCACAGAGGCCCCTTTTCCTGCTCTTAGAACAGGTTGGGCGAGTATGGGGGAGTGTGGGGGAGTATGGGGGAGTATGGGGGACCTCTCCCACCTCCCAGCTGCTTCCAGGAGCCACTTCTTTCGAGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCC... |
Task1_train_13622 | Gene TUBB8 (tubulin beta 8 class VIII) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Oocyte maturation defect 2 | ACCTGGGTTGGGCAAGGACACCCCTCAGACAGTGAGAGCCACTGAGGAGGGCTGTCACAGAGGCCCCTTTTCCTGCTCTTAGAACAGGTTGGGCGAGTATGGGGGAGTGTGGGGGAGTATGGGGGAGTATGGGGGACCTCTCCCACCTCCCAGCTGCTTCCAGGAGCCACTTCTTTCGAGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCT... | ACCTGGGTTGGGCAAGGACACCCCTCAGACAGTGAGAGCCACTGAGGAGGGCTGTCACAGAGGCCCCTTTTCCTGCTCTTAGAACAGGTTGGGCGAGTATGGGGGAGTGTGGGGGAGTATGGGGGAGTATGGGGGACCTCTCCCACCTCCCAGCTGCTTCCAGGAGCCACTTCTTTCGAGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCT... |
Task1_train_13623 | This variant affects gene TUBB8 (tubulin beta 8 class VIII) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; Oocyte maturation defect 2 | AGTATGGGGGAGTATGGGGGACCTCTCCCACCTCCCAGCTGCTTCCAGGAGCCACTTCTTTCGAGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACA... | AGTATGGGGGAGTATGGGGGACCTCTCCCACCTCCCAGCTGCTTCCAGGAGCCACTTCTTTCGAGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACA... |
Task1_train_13624 | A variant on Chromosome 10 in gene TUBB8 (tubulin beta 8 class VIII) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Oocyte maturation defect 2 | AGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTG... | AGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTG... |
Task1_train_13625 | Mutation context: Chromosome 10, Gene TUBB8 (tubulin beta 8 class VIII). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Oocyte maturation defect 2 | TCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCC... | TCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCC... |
Task1_train_13626 | A sequence alteration has been identified in TUBB8 (tubulin beta 8 class VIII) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Oocyte maturation defect 2 | TGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTC... | TGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTC... |
Task1_train_13627 | Gene TUBB8 (tubulin beta 8 class VIII), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Oocyte maturation defect 2 | GGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTC... | GGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTC... |
Task1_train_13628 | With a mutation on Chromosome 10 in gene TUBB8 (tubulin beta 8 class VIII), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Oocyte maturation defect 2 | GCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAG... | GCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAG... |
Task1_train_13629 | Given a variant located on Chromosome 10 and affecting ZMYND11 (zinc finger MYND-type containing 11), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Intellectual disability, autosomal dominant 30 | TTGGCTTTTACATTTTCCTACATATTTACCATTTTGCAGAGTTCCTCATCTCTTTCTGCTGAAATTTTACCTCAGCGAGAAGTAGTGTCTCCCTTGTCTGAATTTTTATAGCACATATTGTGGACCATTTATATGTCATATATGACCTTACAGTTAGTTCCATGTATATGTCAAATTTCCTCTGCCAGTTTTAGATTATTTTCTTGGCAAGGGTCGCCGTTTATACAGTTTTAACTACTTCATTGTGTCTAGCACAGTGCCTTAGATAAAGTGGACACCTGTATATATTTTTAACTATGTAAGAATGAGTGAAACTTTGT... | TTGGCTTTTACATTTTCCTACATATTTACCATTTTGCAGAGTTCCTCATCTCTTTCTGCTGAAATTTTACCTCAGCGAGAAGTAGTGTCTCCCTTGTCTGAATTTTTATAGCACATATTGTGGACCATTTATATGTCATATATGACCTTACAGTTAGTTCCATGTATATGTCAAATTTCCTCTGCCAGTTTTAGATTATTTTCTTGGCAAGGGTCGCCGTTTATACAGTTTTAACTACTTCATTGTGTCTAGCACAGTGCCTTAGATAAAGTGGACACCTGTATATATTTTTAACTATGTAAGAATGAGTGAAACTTTGT... |
Task1_train_13630 | This variant impacts the gene ZMYND11 (zinc finger MYND-type containing 11) on Chromosome 10. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | CTGCCTTTACTCATGCAGGTTCCTTCCTGTTGAAATCCTCTAAGATTTGTCACAGACAGGGACACCTGAGATGTTATTTTAAAATTATTTATAAACCAATTCCTAGCCCCAATTCAGAACTATAAATATATCTTAGTAGTTATGGTAAACTGTCACAGAGGCTAACAGTTCTGTTTTCAATCTCGATCCTCCTGTGTTGTAAAGAATGACAGGTGTGTGCTTAGGGTCTCACCGCCCACACTGGCCCAAGCATTCGTGCACTACCAAGCTTAGCAGCAGCTTTCTACATTATTGTCAAATGAGATGTTCAAGCCATTAAA... | CTGCCTTTACTCATGCAGGTTCCTTCCTGTTGAAATCCTCTAAGATTTGTCACAGACAGGGACACCTGAGATGTTATTTTAAAATTATTTATAAACCAATTCCTAGCCCCAATTCAGAACTATAAATATATCTTAGTAGTTATGGTAAACTGTCACAGAGGCTAACAGTTCTGTTTTCAATCTCGATCCTCCTGTGTTGTAAAGAATGACAGGTGTGTGCTTAGGGTCTCACCGCCCACACTGGCCCAAGCATTCGTGCACTACCAAGCTTAGCAGCAGCTTTCTACATTATTGTCAAATGAGATGTTCAAGCCATTAAA... |
Task1_train_13631 | This sequence change occurs on Chromosome 10, altering PITRM1 (pitrilysin metallopeptidase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Spinocerebellar ataxia, autosomal recessive 30 | GCCACGTTTACTCACCATTCCATATCTGCCATGTGTCAGTTTCCATCCACAGCAGCAGGCCGGGACCCTGGGCCTCGACCCCAGGCTCCTGCTCTCCTTTGAAAGTAAAACATGAATCTTAGTTACTTGTCCTCTTGATTGCAATCCTAGCTGCATGTTAAAACCACCAAGGGGTGGGTGGGGCGGAGGTGGGTTCAAAAATCTGATAGCCAGCTTCTCCTCCAGGCCAAGCCACAGTCCTCGCTGGGACCTAGGTTGGAACTCTCCGGAAGACTCCTGCCAGAGTAGACACGGCTGCTGGGATGACAGCCCTGCTGCCC... | GCCACGTTTACTCACCATTCCATATCTGCCATGTGTCAGTTTCCATCCACAGCAGCAGGCCGGGACCCTGGGCCTCGACCCCAGGCTCCTGCTCTCCTTTGAAAGTAAAACATGAATCTTAGTTACTTGTCCTCTTGATTGCAATCCTAGCTGCATGTTAAAACCACCAAGGGGTGGGTGGGGCGGAGGTGGGTTCAAAAATCTGATAGCCAGCTTCTCCTCCAGGCCAAGCCACAGTCCTCGCTGGGACCTAGGTTGGAACTCTCCGGAAGACTCCTGCCAGAGTAGACACGGCTGCTGGGATGACAGCCCTGCTGCCC... |
Task1_train_13632 | Assess the clinical impact of this variant on gene PITRM1 (pitrilysin metallopeptidase 1), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Spinocerebellar ataxia, autosomal recessive 30 | TATTAGTGACATAAGAACAAGCAATGTATCAGAAAGTGAGGATGTAATTAAGGTTCAGTAACTGCATCCACTATTGGAAGAGCACTTCTCCGTGCCAAGGAGAGGGCTTCAAGCTTCACACCCCGTGTCAAGGTGGGCACCATCCATGCACCCCCACTTTCCACGCAACCAAGCTAGATGTGAGGCAACAGGCTGCGGGGCCAGGACCCTCCTCTGGGGGACTCTAAACGCTGTGTTTGTAACCACCATGCTGAGCCTCCTGAGGGCTATCATTGTAAATGTCCAAAATCAATGTCCAAGTAAGATAGGCAAACTTAGGC... | TATTAGTGACATAAGAACAAGCAATGTATCAGAAAGTGAGGATGTAATTAAGGTTCAGTAACTGCATCCACTATTGGAAGAGCACTTCTCCGTGCCAAGGAGAGGGCTTCAAGCTTCACACCCCGTGTCAAGGTGGGCACCATCCATGCACCCCCACTTTCCACGCAACCAAGCTAGATGTGAGGCAACAGGCTGCGGGGCCAGGACCCTCCTCTGGGGGACTCTAAACGCTGTGTTTGTAACCACCATGCTGAGCCTCCTGAGGGCTATCATTGTAAATGTCCAAAATCAATGTCCAAGTAAGATAGGCAAACTTAGGC... |
Task1_train_13633 | With a mutation on Chromosome 10 in gene KLF6 (KLF transcription factor 6), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Prostate cancer, somatic | GGAATGTGAATTAAGAATGTCCCCCACCAGTGGCTGGAGGTTCTTTGGAGAATCTGAACGGACTTCATTTCTAATTCTTCAAATATGAAAACTGTTGAAAGGCCAATCTCCAAACATATCAATAAACTGACTCCAATGTCAGGTGTATGTGGAACAGTTCTTCCTAACCATGGACAATGAGCACACCAGAAACTTTCTAAAAAGTCCCAGGCTTGAAAAGAAATGTTCACACATAGGAAACTGCATGCCTTCCTTCGAATGTGCCCTGCACACCTACTCAACCCTGGTCATCACATTCCCAAGGCCCCACGCTCCTTGCC... | GGAATGTGAATTAAGAATGTCCCCCACCAGTGGCTGGAGGTTCTTTGGAGAATCTGAACGGACTTCATTTCTAATTCTTCAAATATGAAAACTGTTGAAAGGCCAATCTCCAAACATATCAATAAACTGACTCCAATGTCAGGTGTATGTGGAACAGTTCTTCCTAACCATGGACAATGAGCACACCAGAAACTTTCTAAAAAGTCCCAGGCTTGAAAAGAAATGTTCACACATAGGAAACTGCATGCCTTCCTTCGAATGTGCCCTGCACACCTACTCAACCCTGGTCATCACATTCCCAAGGCCCCACGCTCCTTGCC... |
Task1_train_13634 | This variant affects the gene KLF6 (KLF transcription factor 6) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Gastric cancer | TCTTTGGAGAATCTGAACGGACTTCATTTCTAATTCTTCAAATATGAAAACTGTTGAAAGGCCAATCTCCAAACATATCAATAAACTGACTCCAATGTCAGGTGTATGTGGAACAGTTCTTCCTAACCATGGACAATGAGCACACCAGAAACTTTCTAAAAAGTCCCAGGCTTGAAAAGAAATGTTCACACATAGGAAACTGCATGCCTTCCTTCGAATGTGCCCTGCACACCTACTCAACCCTGGTCATCACATTCCCAAGGCCCCACGCTCCTTGCCCAGCATTGTCCTCAGGCACGTACCTGTCACAGTGGGAGCAT... | TCTTTGGAGAATCTGAACGGACTTCATTTCTAATTCTTCAAATATGAAAACTGTTGAAAGGCCAATCTCCAAACATATCAATAAACTGACTCCAATGTCAGGTGTATGTGGAACAGTTCTTCCTAACCATGGACAATGAGCACACCAGAAACTTTCTAAAAAGTCCCAGGCTTGAAAAGAAATGTTCACACATAGGAAACTGCATGCCTTCCTTCGAATGTGCCCTGCACACCTACTCAACCCTGGTCATCACATTCCCAAGGCCCCACGCTCCTTGCCCAGCATTGTCCTCAGGCACGTACCTGTCACAGTGGGAGCAT... |
Task1_train_13635 | This gene mutation involves KLF6 (KLF transcription factor 6) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Prostate cancer, somatic | TCAGGTGTATGTGGAACAGTTCTTCCTAACCATGGACAATGAGCACACCAGAAACTTTCTAAAAAGTCCCAGGCTTGAAAAGAAATGTTCACACATAGGAAACTGCATGCCTTCCTTCGAATGTGCCCTGCACACCTACTCAACCCTGGTCATCACATTCCCAAGGCCCCACGCTCCTTGCCCAGCATTGTCCTCAGGCACGTACCTGTCACAGTGGGAGCATTTAAAAGGCTTGGCCCCGGTGTGCTTTCGGAAGTGCCTGGTTAACTCATCACTTCTTGCAAAACGCCACTCACACCCTTCCCATGAGCATCTGTAAG... | TCAGGTGTATGTGGAACAGTTCTTCCTAACCATGGACAATGAGCACACCAGAAACTTTCTAAAAAGTCCCAGGCTTGAAAAGAAATGTTCACACATAGGAAACTGCATGCCTTCCTTCGAATGTGCCCTGCACACCTACTCAACCCTGGTCATCACATTCCCAAGGCCCCACGCTCCTTGCCCAGCATTGTCCTCAGGCACGTACCTGTCACAGTGGGAGCATTTAAAAGGCTTGGCCCCGGTGTGCTTTCGGAAGTGCCTGGTTAACTCATCACTTCTTGCAAAACGCCACTCACACCCTTCCCATGAGCATCTGTAAG... |
Task1_train_13636 | A mutation on Chromosome 10 affecting KLF6 (KLF transcription factor 6) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Prostate cancer, somatic | TTCCTAACCATGGACAATGAGCACACCAGAAACTTTCTAAAAAGTCCCAGGCTTGAAAAGAAATGTTCACACATAGGAAACTGCATGCCTTCCTTCGAATGTGCCCTGCACACCTACTCAACCCTGGTCATCACATTCCCAAGGCCCCACGCTCCTTGCCCAGCATTGTCCTCAGGCACGTACCTGTCACAGTGGGAGCATTTAAAAGGCTTGGCCCCGGTGTGCTTTCGGAAGTGCCTGGTTAACTCATCACTTCTTGCAAAACGCCACTCACACCCTTCCCATGAGCATCTGTAAGGCTTTTCTCCTGGGGAGAGAGC... | TTCCTAACCATGGACAATGAGCACACCAGAAACTTTCTAAAAAGTCCCAGGCTTGAAAAGAAATGTTCACACATAGGAAACTGCATGCCTTCCTTCGAATGTGCCCTGCACACCTACTCAACCCTGGTCATCACATTCCCAAGGCCCCACGCTCCTTGCCCAGCATTGTCCTCAGGCACGTACCTGTCACAGTGGGAGCATTTAAAAGGCTTGGCCCCGGTGTGCTTTCGGAAGTGCCTGGTTAACTCATCACTTCTTGCAAAACGCCACTCACACCCTTCCCATGAGCATCTGTAAGGCTTTTCTCCTGGGGAGAGAGC... |
Task1_train_13637 | Gene KLF6 (KLF transcription factor 6), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Prostate cancer, somatic | TGCCCAGCATTGTCCTCAGGCACGTACCTGTCACAGTGGGAGCATTTAAAAGGCTTGGCCCCGGTGTGCTTTCGGAAGTGCCTGGTTAACTCATCACTTCTTGCAAAACGCCACTCACACCCTTCCCATGAGCATCTGTAAGGCTTTTCTCCTGGGGAGAGAGCACAGGACAAGCAGCCCATGACTTCACTGACCCGCAGACGGAAAGGGGAAATTCAACAACACACACAGTGGTGGGATGCAAGGCCAGGGACCCAGTGGCTTCTGGCATCGGTAACACACAACAACTGGCAGCCTCAGAGAGACAACAGCAGCTCTCT... | TGCCCAGCATTGTCCTCAGGCACGTACCTGTCACAGTGGGAGCATTTAAAAGGCTTGGCCCCGGTGTGCTTTCGGAAGTGCCTGGTTAACTCATCACTTCTTGCAAAACGCCACTCACACCCTTCCCATGAGCATCTGTAAGGCTTTTCTCCTGGGGAGAGAGCACAGGACAAGCAGCCCATGACTTCACTGACCCGCAGACGGAAAGGGGAAATTCAACAACACACACAGTGGTGGGATGCAAGGCCAGGGACCCAGTGGCTTCTGGCATCGGTAACACACAACAACTGGCAGCCTCAGAGAGACAACAGCAGCTCTCT... |
Task1_train_13638 | Here is a mutation in AKR1C2 (aldo-keto reductase family 1 member C2) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | AAATGAAAAACAAAATTATTGTCTTTCTTTTCCGGCCGATGGGCTTAGCTGTAGCTTACTGAAGTCGCCAAGCAGGAGAGATTTAACCAGAGGCGATGTGTCCAGTCACCAGCATAGAGCCATCCTCTGTGTCACCATCCACACGCAGGGCCTTCTGGCAGACCTCATGCAATGCCCTCCATGTTAATATTCATCAGAAAATGGATAATTAGGGGGGCCAGCAAAACTGGAAAGAGAAAAAAAAATGCACACTCTGAATGGCAATGACTCCGTTACTAGCCCGTAGCGCAGTGATTTCTAGGAAGCTGCCGCTAGTGTAG... | AAATGAAAAACAAAATTATTGTCTTTCTTTTCCGGCCGATGGGCTTAGCTGTAGCTTACTGAAGTCGCCAAGCAGGAGAGATTTAACCAGAGGCGATGTGTCCAGTCACCAGCATAGAGCCATCCTCTGTGTCACCATCCACACGCAGGGCCTTCTGGCAGACCTCATGCAATGCCCTCCATGTTAATATTCATCAGAAAATGGATAATTAGGGGGGCCAGCAAAACTGGAAAGAGAAAAAAAAATGCACACTCTGAATGGCAATGACTCCGTTACTAGCCCGTAGCGCAGTGATTTCTAGGAAGCTGCCGCTAGTGTAG... |
Task1_train_13639 | This alteration occurs within gene AKR1C2, LOC101928051 (aldo-keto reductase family 1 member C2| uncharacterized LOC101928051) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | CAAGTCTCTAAAGAATTCATATCCAGAATAAATACATATATATGTATGGTTTCTAGTTAATCTAACATATATATTATATAACACATATGTCATATATCATATATATCTATATATACTAGATGAATTAGAGAACATACACATATGTATAAATACTGATAATTTCCACAGTCTTTCATAACTTTTCATTTTTGTTTTGTGAATTCTCTAATGTCCAAAAATATTTTTAAAATAATTTAATGAATGCCATTACCTAGATTCATCAATTGTTTCATTATTGTCATTTTTTATTCTCTCGTTCTCTGTATCACTATTTCAGAGTA... | CAAGTCTCTAAAGAATTCATATCCAGAATAAATACATATATATGTATGGTTTCTAGTTAATCTAACATATATATTATATAACACATATGTCATATATCATATATATCTATATATACTAGATGAATTAGAGAACATACACATATGTATAAATACTGATAATTTCCACAGTCTTTCATAACTTTTCATTTTTGTTTTGTGAATTCTCTAATGTCCAAAAATATTTTTAAAATAATTTAATGAATGCCATTACCTAGATTCATCAATTGTTTCATTATTGTCATTTTTTATTCTCTCGTTCTCTGTATCACTATTTCAGAGTA... |
Task1_train_13640 | Located on Chromosome 10, this mutation impacts AKR1C2 (aldo-keto reductase family 1 member C2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | GGAGAGGAGGCTGAGGGCGCTCACCTGGTTGCAGACAGGCTTGTACTTGAGCCCTGGCTTGTTGAGGATCATCTCCAGCAGCCTGTGGTTGAAGTTGGACACCCCGATGGACTTGGCCAATCCTGCATCTTTACACTTCTCCATGGCCTGGGAAAAAGGAATTGTGAGGTATCATTTGTGTAGTCGACTGAAGAGCAAGATAAATGTAACATAGAACTGTGAAAGCAACAACTGTCTAGACGTGACAATCAAACTAGCTAGCCGTGGTTCTTAAAAGGGAGAAAATAAAACAGAAAAATTGGGGAAGAAGATAGTGATTG... | GGAGAGGAGGCTGAGGGCGCTCACCTGGTTGCAGACAGGCTTGTACTTGAGCCCTGGCTTGTTGAGGATCATCTCCAGCAGCCTGTGGTTGAAGTTGGACACCCCGATGGACTTGGCCAATCCTGCATCTTTACACTTCTCCATGGCCTGGGAAAAAGGAATTGTGAGGTATCATTTGTGTAGTCGACTGAAGAGCAAGATAAATGTAACATAGAACTGTGAAAGCAACAACTGTCTAGACGTGACAATCAAACTAGCTAGCCGTGGTTCTTAAAAGGGAGAAAATAAAACAGAAAAATTGGGGAAGAAGATAGTGATTG... |
Task1_train_13641 | Here is a genetic alteration in AKR1C2 (aldo-keto reductase family 1 member C2) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | TATGTATAAATAAATACCATCTTTCTGGTTCCTAATGGAGTGTCATCATTGACTTTCATTGACTTTCTTCTGCTCCTATAATTTTCTCTGTGGCAATACCTCTCTTCAACTGCAAAAGATCTTGATATCCAGATATAATGGATTGTACTTTTTACCCAGGTGCCACTATCAGAGTTCTTTATCTCCCTGAACATATGATGTTCCATGCACAGGACCATGAACCAATCATGGTCAATGGAGGCGTTTTCCAGGCTAGTTTGGAAATTAGGAGATGCACAGGAGCTCACGGTAATGAACATGGGCCTGACAGTGCTCCAAAG... | TATGTATAAATAAATACCATCTTTCTGGTTCCTAATGGAGTGTCATCATTGACTTTCATTGACTTTCTTCTGCTCCTATAATTTTCTCTGTGGCAATACCTCTCTTCAACTGCAAAAGATCTTGATATCCAGATATAATGGATTGTACTTTTTACCCAGGTGCCACTATCAGAGTTCTTTATCTCCCTGAACATATGATGTTCCATGCACAGGACCATGAACCAATCATGGTCAATGGAGGCGTTTTCCAGGCTAGTTTGGAAATTAGGAGATGCACAGGAGCTCACGGTAATGAACATGGGCCTGACAGTGCTCCAAAG... |
Task1_train_13642 | A mutation in IL2RA (interleukin 2 receptor subunit alpha), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Immunodeficiency due to CD25 deficiency | AAGAGAGACACTCCTGCTACCGTGACTTTAGGACAGCACGAGGCTAAAGGAAGTCAGGGTGTCTCTGTGAATGAGAAGCTCAGAGGCTGGTGGGAGACACGTGGTGGTGGTGAGGGAAGGTGTTCCATCTCTGCCTGGGGACCGTGCTTGGTCCTGGTCCTGGGTTCCCTCTTTCTGACACTTGCTTTGGGGCCTGCAGGTTGCTGAGGCCCTGTCCCTGCTCAGAGGGAGAGGAGGCTGCTGTGGGCTTCTCCCCTACAGGTCACCTCCGCCTATCTCCCTGAGCCTGGCTCCTGGTCACCTCTGCCCTTTTGGACTAG... | AAGAGAGACACTCCTGCTACCGTGACTTTAGGACAGCACGAGGCTAAAGGAAGTCAGGGTGTCTCTGTGAATGAGAAGCTCAGAGGCTGGTGGGAGACACGTGGTGGTGGTGAGGGAAGGTGTTCCATCTCTGCCTGGGGACCGTGCTTGGTCCTGGTCCTGGGTTCCCTCTTTCTGACACTTGCTTTGGGGCCTGCAGGTTGCTGAGGCCCTGTCCCTGCTCAGAGGGAGAGGAGGCTGCTGTGGGCTTCTCCCCTACAGGTCACCTCCGCCTATCTCCCTGAGCCTGGCTCCTGGTCACCTCTGCCCTTTTGGACTAG... |
Task1_train_13643 | A variant on Chromosome 10 in gene IL2RA (interleukin 2 receptor subunit alpha) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Immunodeficiency due to CD25 deficiency | TATCAGCAGGGCCTGGCACACAGACCCAACAGACGCTTTTAAGTTGAGTTGAATTTGGGTTGAATTCTATTTGGCCAGTTACCAAACCAGGGAGTAAGCCCAGACCTGGATTGGCTGCCGTCAGATTGGCTTTAGTTGCTGAGCAAACAGCCTCTGAGCAACTCTGCACTAATTCTTGTCTGCAATGATGTCTTGGGAGGACGGAGCCACATGCATGTGTTTATAGAAGGCAGGGCAGACCTTCTTCCTTTGGGTACACATCATCTGCCTGCAGGAGAAGGGTGCGCTAGCAGGAGTTAGCTGGAGGACAGATTCATCTC... | TATCAGCAGGGCCTGGCACACAGACCCAACAGACGCTTTTAAGTTGAGTTGAATTTGGGTTGAATTCTATTTGGCCAGTTACCAAACCAGGGAGTAAGCCCAGACCTGGATTGGCTGCCGTCAGATTGGCTTTAGTTGCTGAGCAAACAGCCTCTGAGCAACTCTGCACTAATTCTTGTCTGCAATGATGTCTTGGGAGGACGGAGCCACATGCATGTGTTTATAGAAGGCAGGGCAGACCTTCTTCCTTTGGGTACACATCATCTGCCTGCAGGAGAAGGGTGCGCTAGCAGGAGTTAGCTGGAGGACAGATTCATCTC... |
Task1_train_13644 | This gene mutation involves GATA3 (GATA binding protein 3) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hypoparathyroidism, deafness, renal disease syndrome | GGGCCTGCAGTCCTAGCTGGGACAGGGCCAGTGCTGCCCCAGAAGGGGCTGACCCAGCAGCCACCAGCGACACAAAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCT... | GGGCCTGCAGTCCTAGCTGGGACAGGGCCAGTGCTGCCCCAGAAGGGGCTGACCCAGCAGCCACCAGCGACACAAAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCT... |
Task1_train_13645 | A variant has been detected on Chromosome 10 in GATA3 (GATA binding protein 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | GGCCAGTGCTGCCCCAGAAGGGGCTGACCCAGCAGCCACCAGCGACACAAAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGG... | GGCCAGTGCTGCCCCAGAAGGGGCTGACCCAGCAGCCACCAGCGACACAAAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGG... |
Task1_train_13646 | This variant affects gene GATA3 (GATA binding protein 3) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; Hypoparathyroidism, deafness, renal disease syndrome | CTGCCCCAGAAGGGGCTGACCCAGCAGCCACCAGCGACACAAAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGG... | CTGCCCCAGAAGGGGCTGACCCAGCAGCCACCAGCGACACAAAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGG... |
Task1_train_13647 | This is a variant in GATA3 (GATA binding protein 3), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Dominant congenital non-syndromic sensorineural hearing loss | AAGGGGCTGACCCAGCAGCCACCAGCGACACAAAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATC... | AAGGGGCTGACCCAGCAGCCACCAGCGACACAAAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATC... |
Task1_train_13648 | Given this context: Chromosome 10, gene GATA3 (GATA binding protein 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hypoparathyroidism, deafness, renal disease syndrome | AAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCT... | AAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCT... |
Task1_train_13649 | Mutation context: Chromosome 10, Gene GATA3 (GATA binding protein 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | AGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCTCTTACATCCTCATTTTTTTTTTTTTTTTAAAA... | AGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCTCTTACATCCTCATTTTTTTTTTTTTTTTAAAA... |
Task1_train_13650 | Mutation context: Chromosome 10, Gene GATA3 (GATA binding protein 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hypoparathyroidism, deafness, renal disease syndrome | AGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCTCTTACATCCTCATTTTTTTTTTTTTTTTAAAA... | AGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCTCTTACATCCTCATTTTTTTTTTTTTTTTAAAA... |
Task1_train_13651 | A variant was discovered on Chromosome 10, affecting GATA3 (GATA binding protein 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hypoparathyroidism, deafness, renal disease syndrome | ATATCTGGCAGCTTCGGGTGTTGGCTTCAACTTTTTGCTTGATAAAATATTGATATAAAACTGTACCAGAATCCCAGGCCGGGTGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAACACAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACT... | ATATCTGGCAGCTTCGGGTGTTGGCTTCAACTTTTTGCTTGATAAAATATTGATATAAAACTGTACCAGAATCCCAGGCCGGGTGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAACACAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACT... |
Task1_train_13652 | A mutation on Chromosome 10 affecting GATA3 (GATA binding protein 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hypoparathyroidism, deafness, renal disease syndrome | ACCAGAATCCCAGGCCGGGTGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAACACAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAGAAACAAAAGAAAACATAACAAAACA... | ACCAGAATCCCAGGCCGGGTGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAACACAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAGAAACAAAAGAAAACATAACAAAACA... |
Task1_train_13653 | A genomic change on Chromosome 10 affects GATA3 (GATA binding protein 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hypoparathyroidism, deafness, renal disease syndrome | GATGTGTATTGAACAATAAGAGATAATAATCTATTAACATTGTCATCACGTTGCGTTTTGCTCTGCCCTTCCAGACATCTCTACATGGATGCCATAAGCTCTTTCTTCTTATCTAGGTGTTGAGATAACTGCCTACCTCGGTATCAGCATCTCTCAGTGGTGTTGTGACTGGTTATCTGGGGTTGTGTGGCTACTGGTGTAACTAGATATTATATTTAGATACCTGGCTATGTATAGCTAGATATCGGCATCAGAGCTGTGTATCTGGACATTATCTTGGTGAAGATTTGATGTGGGAGTAGATTCCTGTCATCTCTGTA... | GATGTGTATTGAACAATAAGAGATAATAATCTATTAACATTGTCATCACGTTGCGTTTTGCTCTGCCCTTCCAGACATCTCTACATGGATGCCATAAGCTCTTTCTTCTTATCTAGGTGTTGAGATAACTGCCTACCTCGGTATCAGCATCTCTCAGTGGTGTTGTGACTGGTTATCTGGGGTTGTGTGGCTACTGGTGTAACTAGATATTATATTTAGATACCTGGCTATGTATAGCTAGATATCGGCATCAGAGCTGTGTATCTGGACATTATCTTGGTGAAGATTTGATGTGGGAGTAGATTCCTGTCATCTCTGTA... |
Task1_train_13654 | The following genetic variant occurs in CELF2, CELF2-AS1 (CUGBP Elav-like family member 2| CELF2 antisense RNA 1) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Developmental and epileptic encephalopathy 97 | GTAATCAGGCCAAAGAGAATGTTTTGGCTTCTAAAACTCTAATCCTAAGGTCTAATTTGTGCTATCACCCAGGAAGGTCTGAAGGCATGGTTAAAGGACTCCGCATGTCAGCCACTTACAGTCACCACGTTACCCTAGCAGCAAGGCTGTCAGTCGGGACCCATTCGGCGGCTGCTGTGGCAACTGTATAAACCCGTGTGACAGTTCAGTAGAGAGGGATATGCAAATTAAATCATTATGGGGGGCGGGGGGGTGTGTCTGAGCAGGAGCCTACTTTAGGGAGGCTTCCCTACATGATTTACAAGGCTTTGAGGCTGACT... | GTAATCAGGCCAAAGAGAATGTTTTGGCTTCTAAAACTCTAATCCTAAGGTCTAATTTGTGCTATCACCCAGGAAGGTCTGAAGGCATGGTTAAAGGACTCCGCATGTCAGCCACTTACAGTCACCACGTTACCCTAGCAGCAAGGCTGTCAGTCGGGACCCATTCGGCGGCTGCTGTGGCAACTGTATAAACCCGTGTGACAGTTCAGTAGAGAGGGATATGCAAATTAAATCATTATGGGGGGCGGGGGGGTGTGTCTGAGCAGGAGCCTACTTTAGGGAGGCTTCCCTACATGATTTACAAGGCTTTGAGGCTGACT... |
Task1_train_13655 | A genomic change on Chromosome 10 affects CELF2, CELF2-AS1 (CUGBP Elav-like family member 2| CELF2 antisense RNA 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | GTAATCAGGCCAAAGAGAATGTTTTGGCTTCTAAAACTCTAATCCTAAGGTCTAATTTGTGCTATCACCCAGGAAGGTCTGAAGGCATGGTTAAAGGACTCCGCATGTCAGCCACTTACAGTCACCACGTTACCCTAGCAGCAAGGCTGTCAGTCGGGACCCATTCGGCGGCTGCTGTGGCAACTGTATAAACCCGTGTGACAGTTCAGTAGAGAGGGATATGCAAATTAAATCATTATGGGGGGCGGGGGGGTGTGTCTGAGCAGGAGCCTACTTTAGGGAGGCTTCCCTACATGATTTACAAGGCTTTGAGGCTGACT... | GTAATCAGGCCAAAGAGAATGTTTTGGCTTCTAAAACTCTAATCCTAAGGTCTAATTTGTGCTATCACCCAGGAAGGTCTGAAGGCATGGTTAAAGGACTCCGCATGTCAGCCACTTACAGTCACCACGTTACCCTAGCAGCAAGGCTGTCAGTCGGGACCCATTCGGCGGCTGCTGTGGCAACTGTATAAACCCGTGTGACAGTTCAGTAGAGAGGGATATGCAAATTAAATCATTATGGGGGGCGGGGGGGTGTGTCTGAGCAGGAGCCTACTTTAGGGAGGCTTCCCTACATGATTTACAAGGCTTTGAGGCTGACT... |
Task1_train_13656 | A variant was discovered in gene CELF2, CELF2-AS1 (CUGBP Elav-like family member 2| CELF2 antisense RNA 1), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Developmental and epileptic encephalopathy 97 | TAATCAGGCCAAAGAGAATGTTTTGGCTTCTAAAACTCTAATCCTAAGGTCTAATTTGTGCTATCACCCAGGAAGGTCTGAAGGCATGGTTAAAGGACTCCGCATGTCAGCCACTTACAGTCACCACGTTACCCTAGCAGCAAGGCTGTCAGTCGGGACCCATTCGGCGGCTGCTGTGGCAACTGTATAAACCCGTGTGACAGTTCAGTAGAGAGGGATATGCAAATTAAATCATTATGGGGGGCGGGGGGGTGTGTCTGAGCAGGAGCCTACTTTAGGGAGGCTTCCCTACATGATTTACAAGGCTTTGAGGCTGACTT... | TAATCAGGCCAAAGAGAATGTTTTGGCTTCTAAAACTCTAATCCTAAGGTCTAATTTGTGCTATCACCCAGGAAGGTCTGAAGGCATGGTTAAAGGACTCCGCATGTCAGCCACTTACAGTCACCACGTTACCCTAGCAGCAAGGCTGTCAGTCGGGACCCATTCGGCGGCTGCTGTGGCAACTGTATAAACCCGTGTGACAGTTCAGTAGAGAGGGATATGCAAATTAAATCATTATGGGGGGCGGGGGGGTGTGTCTGAGCAGGAGCCTACTTTAGGGAGGCTTCCCTACATGATTTACAAGGCTTTGAGGCTGACTT... |
Task1_train_13657 | A mutation in CELF2, CELF2-AS1 (CUGBP Elav-like family member 2| CELF2 antisense RNA 1), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Developmental and epileptic encephalopathy 97 | TCCTAAGGTCTAATTTGTGCTATCACCCAGGAAGGTCTGAAGGCATGGTTAAAGGACTCCGCATGTCAGCCACTTACAGTCACCACGTTACCCTAGCAGCAAGGCTGTCAGTCGGGACCCATTCGGCGGCTGCTGTGGCAACTGTATAAACCCGTGTGACAGTTCAGTAGAGAGGGATATGCAAATTAAATCATTATGGGGGGCGGGGGGGTGTGTCTGAGCAGGAGCCTACTTTAGGGAGGCTTCCCTACATGATTTACAAGGCTTTGAGGCTGACTTTTGTGTTTTTCGTAGCTAAACAATATTCTAGATTTGGAAGG... | TCCTAAGGTCTAATTTGTGCTATCACCCAGGAAGGTCTGAAGGCATGGTTAAAGGACTCCGCATGTCAGCCACTTACAGTCACCACGTTACCCTAGCAGCAAGGCTGTCAGTCGGGACCCATTCGGCGGCTGCTGTGGCAACTGTATAAACCCGTGTGACAGTTCAGTAGAGAGGGATATGCAAATTAAATCATTATGGGGGGCGGGGGGGTGTGTCTGAGCAGGAGCCTACTTTAGGGAGGCTTCCCTACATGATTTACAAGGCTTTGAGGCTGACTTTTGTGTTTTTCGTAGCTAAACAATATTCTAGATTTGGAAGG... |
Task1_train_13658 | The gene DHTKD1 (dehydrogenase E1 and transketolase domain containing 1) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; 2-aminoadipic 2-oxoadipic aciduria | AACAGCAACAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGAAATCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATTGCTTGAACCCGGGAGATGGAGGTTGCAGTGAGCCGAGATTGCCCTACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAGACAAGCCCTTGCAAAACCAGGTCCAAACTAGCAAGATGGGGAGGCCACCAAAGTGTGGACCTAAGGGGTCCCAGCTACAGTAGCTGTGCTGGATGACGCTCCTGTGCTTGCAGGGGGCACTT... | AACAGCAACAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGAAATCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATTGCTTGAACCCGGGAGATGGAGGTTGCAGTGAGCCGAGATTGCCCTACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAGACAAGCCCTTGCAAAACCAGGTCCAAACTAGCAAGATGGGGAGGCCACCAAAGTGTGGACCTAAGGGGTCCCAGCTACAGTAGCTGTGCTGGATGACGCTCCTGTGCTTGCAGGGGGCACTT... |
Task1_train_13659 | The gene DHTKD1 (dehydrogenase E1 and transketolase domain containing 1) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Charcot-Marie-Tooth disease type 2A2 | AACAGCAACAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGAAATCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATTGCTTGAACCCGGGAGATGGAGGTTGCAGTGAGCCGAGATTGCCCTACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAGACAAGCCCTTGCAAAACCAGGTCCAAACTAGCAAGATGGGGAGGCCACCAAAGTGTGGACCTAAGGGGTCCCAGCTACAGTAGCTGTGCTGGATGACGCTCCTGTGCTTGCAGGGGGCACTT... | AACAGCAACAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGAAATCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATTGCTTGAACCCGGGAGATGGAGGTTGCAGTGAGCCGAGATTGCCCTACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAGACAAGCCCTTGCAAAACCAGGTCCAAACTAGCAAGATGGGGAGGCCACCAAAGTGTGGACCTAAGGGGTCCCAGCTACAGTAGCTGTGCTGGATGACGCTCCTGTGCTTGCAGGGGGCACTT... |
Task1_train_13660 | Here is a mutation in OPTN, LOC108903148 (optineurin| 10p13 OPTN distal Alu-mediated recombination region) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Glaucoma 1, open angle, E | AAAATTGGCCAGGCATGGTGGCTGACGCCTATAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCTCCACTGCACTCCAGCCTGGGCAACAGAGAGAGACTCTCAAAAAACCAAAACAGTCTTTTTTTTTTTTTTTTTTTGAGACTCTGTCGCCCATGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCGCAGCCTCCGGAGTAGCTGGGACTACAGGCACCTGCCACCATGCTTGG... | AAAATTGGCCAGGCATGGTGGCTGACGCCTATAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCTCCACTGCACTCCAGCCTGGGCAACAGAGAGAGACTCTCAAAAAACCAAAACAGTCTTTTTTTTTTTTTTTTTTTGAGACTCTGTCGCCCATGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCGCAGCCTCCGGAGTAGCTGGGACTACAGGCACCTGCCACCATGCTTGG... |
Task1_train_13661 | This sequence variant lies in OPTN (optineurin) on Chromosome 10. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Amyotrophic lateral sclerosis type 12 | TCATTCTAGACATAGACATTTGTTTTCTCTTGATGGATACTCTTGCTCATTCATTCAATAACTTCTTTTTTGAGCACTTATAATATGTCAGAGACGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTACAAGGTCAGGAGTTCGAGACCAACCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGAGCGTGTTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTG... | TCATTCTAGACATAGACATTTGTTTTCTCTTGATGGATACTCTTGCTCATTCATTCAATAACTTCTTTTTTGAGCACTTATAATATGTCAGAGACGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTACAAGGTCAGGAGTTCGAGACCAACCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGAGCGTGTTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTG... |
Task1_train_13662 | Gene MCM10 (minichromosome maintenance 10 replication initiation factor) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Immunodeficiency 80 with or without congenital cardiomyopathy | GAGGCCAGAGAATCACTTGAACCTGGAAGGCAGAGGTTTCAGTGAGCTGAGATCGCACTATTATACTCCAGCCTGGGCGATAGAGTGAGATTCTGTCTCCAAAAAAGAATATAAATAAATAAAGTCAACAATTCAGTAATTTCTAGTACATTCACAGAGCTGTGCAACCATCACCACTGTGTAATTTCAGAACCCTTTCATTGCCCCAGAAAGAAACCCAGTACCCACTAGCAATCACTCCCCAGTCTCCTCTCCCCCAGCCCCTGGTAAGCACTAACCTACTTTCTGTCTCTATGGATTTGCCTCTTCTAGACATTTCA... | GAGGCCAGAGAATCACTTGAACCTGGAAGGCAGAGGTTTCAGTGAGCTGAGATCGCACTATTATACTCCAGCCTGGGCGATAGAGTGAGATTCTGTCTCCAAAAAAGAATATAAATAAATAAAGTCAACAATTCAGTAATTTCTAGTACATTCACAGAGCTGTGCAACCATCACCACTGTGTAATTTCAGAACCCTTTCATTGCCCCAGAAAGAAACCCAGTACCCACTAGCAATCACTCCCCAGTCTCCTCTCCCCCAGCCCCTGGTAAGCACTAACCTACTTTCTGTCTCTATGGATTTGCCTCTTCTAGACATTTCA... |
Task1_train_13663 | A variant on Chromosome 10 in gene PHYH (phytanoyl-CoA 2-hydroxylase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Phytanic acid storage disease | CCATCTTGGCTCATTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTAGAGGCATGTGCCACCACACCCGGCTAATTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTAAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCAAACACCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGCACCTGGCCTGATGACTCTTATGTTACTTGTCTGAGCCTTTTTGAGTGTTCTACTCTTGATGAGATGATAATAGTGAACATGGTATCAAGGA... | CCATCTTGGCTCATTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTAGAGGCATGTGCCACCACACCCGGCTAATTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTAAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCAAACACCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGCACCTGGCCTGATGACTCTTATGTTACTTGTCTGAGCCTTTTTGAGTGTTCTACTCTTGATGAGATGATAATAGTGAACATGGTATCAAGGA... |
Task1_train_13664 | The following genetic variant occurs in PHYH (phytanoyl-CoA 2-hydroxylase) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; REFSUM DISEASE, ADULT, 1 | AAGGATGAAATTGCTTGGTTCTCCCTATTTTAGAAAAAGTTATAAACAGATCTAAGCTGCAAGGCAATCGTTAAAACTTACCTTTTTTGTCACAAGTGATCACACTTGTCAGAAAGACTTTCTACTTTGCCCCAAACAACAAATTTCTAGGGAGTGGAGTCACAAACTCCATTGCCTCTGTAAGCCCTGGTGCCATACGGCACTGTAACAGAGCCCAAGGCAAAGGGAAAACACGCACCCCTATATCTGTATCTTTATGAAATTATAGTAATATTTTCCCAGAACATTAAAGTCATTAAGCCTGGGCACGGTGGCTCATG... | AAGGATGAAATTGCTTGGTTCTCCCTATTTTAGAAAAAGTTATAAACAGATCTAAGCTGCAAGGCAATCGTTAAAACTTACCTTTTTTGTCACAAGTGATCACACTTGTCAGAAAGACTTTCTACTTTGCCCCAAACAACAAATTTCTAGGGAGTGGAGTCACAAACTCCATTGCCTCTGTAAGCCCTGGTGCCATACGGCACTGTAACAGAGCCCAAGGCAAAGGGAAAACACGCACCCCTATATCTGTATCTTTATGAAATTATAGTAATATTTTCCCAGAACATTAAAGTCATTAAGCCTGGGCACGGTGGCTCATG... |
Task1_train_13665 | A variant on Chromosome 10 in gene PHYH (phytanoyl-CoA 2-hydroxylase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Phytanic acid storage disease | GTGCAGCCATGCAATGGAATACTACTCAGCAAGGGAAGGGAAAGAACTACTGTTGGCCAGGCGCGGTGAGCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGATCGAGACCATCCTGGCCAACATAGTGAAAACTCGTCTCTACTAAAAATATAAAAATTAGCTGAGCATGGTGGCTTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTGGAACAAGGGAGTCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTGACAGAGTGAGACTCTGTCTC... | GTGCAGCCATGCAATGGAATACTACTCAGCAAGGGAAGGGAAAGAACTACTGTTGGCCAGGCGCGGTGAGCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGATCGAGACCATCCTGGCCAACATAGTGAAAACTCGTCTCTACTAAAAATATAAAAATTAGCTGAGCATGGTGGCTTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTGGAACAAGGGAGTCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTGACAGAGTGAGACTCTGTCTC... |
Task1_train_13666 | This sequence variant lies in PHYH (phytanoyl-CoA 2-hydroxylase) on Chromosome 10. Is it clinically significant, and what condition might it cause if any? | Pathogenic; REFSUM DISEASE, ADULT, 1 | AGGCCGAGGCAGGCAGATCACGAAGTCAGGAGATCGAGACCATCCTGGCCAACATAGTGAAAACTCGTCTCTACTAAAAATATAAAAATTAGCTGAGCATGGTGGCTTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTGGAACAAGGGAGTCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAACAACAAAAAACTACTATCATACACAACAGCATCAATGAACCTCAAAATCACTACACTGAGTGAAGGA... | AGGCCGAGGCAGGCAGATCACGAAGTCAGGAGATCGAGACCATCCTGGCCAACATAGTGAAAACTCGTCTCTACTAAAAATATAAAAATTAGCTGAGCATGGTGGCTTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTGGAACAAGGGAGTCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAACAACAAAAAACTACTATCATACACAACAGCATCAATGAACCTCAAAATCACTACACTGAGTGAAGGA... |
Task1_train_13667 | Consider a variant on Chromosome 10 in gene DCLRE1C (DNA cross-link repair 1C). Determine its clinical classification and disease relevance. | Pathogenic; Severe combined immunodeficiency due to DCLRE1C deficiency | ACTTAAACACTCCTCCTAGACAGGATTTTAAAGAGACATTTAACAGGTGGAGAGCCGCACATAGCCTTTTCCTTCCCAACAGTCCCAGGTACTCACACCTACGGGGACAGTTAGGATATGACCTGTCACCCTACAAACTTCCTACTAAAAACACGGGCACACCCAGATGATAACCCTGTTCCTCCAGGCAGACTTACCCGACTTGGAATTTGGTAAAATCTTGGATCACAGAACGTAGTATCCAAATATACACTTTGGATGTCTTTGACTCTGAAAAGAAAAAAAATTGATGTTAGCCATCCAATGTGATATAAATTATG... | ACTTAAACACTCCTCCTAGACAGGATTTTAAAGAGACATTTAACAGGTGGAGAGCCGCACATAGCCTTTTCCTTCCCAACAGTCCCAGGTACTCACACCTACGGGGACAGTTAGGATATGACCTGTCACCCTACAAACTTCCTACTAAAAACACGGGCACACCCAGATGATAACCCTGTTCCTCCAGGCAGACTTACCCGACTTGGAATTTGGTAAAATCTTGGATCACAGAACGTAGTATCCAAATATACACTTTGGATGTCTTTGACTCTGAAAAGAAAAAAAATTGATGTTAGCCATCCAATGTGATATAAATTATG... |
Task1_train_13668 | Here is a mutation in DCLRE1C (DNA cross-link repair 1C) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Severe combined immunodeficiency due to DCLRE1C deficiency | AGTGAGACTATCTCAAAAAAAGGAAAAAAAAAAGTAAACAGACTCTTTGTGACACTGGGACAAATTGCTCTGCCAACTCCCACAATGATTTAAGAACTAATCCATGTAATGAACCCACATTCTGTTAAGTCATTGTGGTTCTCCTCAGATCAAGCACTGGGTGACAGGTTCTCGCAGTTTCTACTTCAGCTGGATGCTATTTTGTCAATTGCACATACGTCCATATGACCCATGGCTCCTTTTAACAGTGACACCCTCTTCAAACCTTGTCTTTCTTTGCCTTCTAGTCTACTTTCTGATATTAAAAACTGCCACTCTGA... | AGTGAGACTATCTCAAAAAAAGGAAAAAAAAAAGTAAACAGACTCTTTGTGACACTGGGACAAATTGCTCTGCCAACTCCCACAATGATTTAAGAACTAATCCATGTAATGAACCCACATTCTGTTAAGTCATTGTGGTTCTCCTCAGATCAAGCACTGGGTGACAGGTTCTCGCAGTTTCTACTTCAGCTGGATGCTATTTTGTCAATTGCACATACGTCCATATGACCCATGGCTCCTTTTAACAGTGACACCCTCTTCAAACCTTGTCTTTCTTTGCCTTCTAGTCTACTTTCTGATATTAAAAACTGCCACTCTGA... |
Task1_train_13669 | A variant affecting Chromosome 10, within the gene DCLRE1C (DNA cross-link repair 1C), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Severe combined immunodeficiency due to DCLRE1C deficiency | CAAAAAGGTGAAAAGCCAACAGAAGGCAATGTGAGAAACCTCCAAAAGCAGAAGTTGTGTTTTCACCCTTGATGAGTTTATGTCCTGGTTGACTAAGCAGATCCACATGTGGTCAGAGAACAGAAAAAGTTGTTATAGACTGTTCAACAGTAGGGAAGAGTCCATTTCTGGCTTAATGCACAAACTTATGATGATTTCAAATTCCTTTAGATTTATTATTTCTCCAAACTCAGCCATCCTAAACACGAAGTGCAAGTTTCGGAAGTATACTTTAATCCTGGCTAGCCCATTTTGAGTTCAGAGACTCCAGTGCGGCTCTA... | CAAAAAGGTGAAAAGCCAACAGAAGGCAATGTGAGAAACCTCCAAAAGCAGAAGTTGTGTTTTCACCCTTGATGAGTTTATGTCCTGGTTGACTAAGCAGATCCACATGTGGTCAGAGAACAGAAAAAGTTGTTATAGACTGTTCAACAGTAGGGAAGAGTCCATTTCTGGCTTAATGCACAAACTTATGATGATTTCAAATTCCTTTAGATTTATTATTTCTCCAAACTCAGCCATCCTAAACACGAAGTGCAAGTTTCGGAAGTATACTTTAATCCTGGCTAGCCCATTTTGAGTTCAGAGACTCCAGTGCGGCTCTA... |
Task1_train_13670 | Given a variant located on Chromosome 10 and affecting DCLRE1C (DNA cross-link repair 1C), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Severe combined immunodeficiency due to DCLRE1C deficiency | AAGCAGAAGTTGTGTTTTCACCCTTGATGAGTTTATGTCCTGGTTGACTAAGCAGATCCACATGTGGTCAGAGAACAGAAAAAGTTGTTATAGACTGTTCAACAGTAGGGAAGAGTCCATTTCTGGCTTAATGCACAAACTTATGATGATTTCAAATTCCTTTAGATTTATTATTTCTCCAAACTCAGCCATCCTAAACACGAAGTGCAAGTTTCGGAAGTATACTTTAATCCTGGCTAGCCCATTTTGAGTTCAGAGACTCCAGTGCGGCTCTACACAAAAAGTAAAAATAGGCATATCCTCGTCCAGCAGTGGATTCT... | AAGCAGAAGTTGTGTTTTCACCCTTGATGAGTTTATGTCCTGGTTGACTAAGCAGATCCACATGTGGTCAGAGAACAGAAAAAGTTGTTATAGACTGTTCAACAGTAGGGAAGAGTCCATTTCTGGCTTAATGCACAAACTTATGATGATTTCAAATTCCTTTAGATTTATTATTTCTCCAAACTCAGCCATCCTAAACACGAAGTGCAAGTTTCGGAAGTATACTTTAATCCTGGCTAGCCCATTTTGAGTTCAGAGACTCCAGTGCGGCTCTACACAAAAAGTAAAAATAGGCATATCCTCGTCCAGCAGTGGATTCT... |
Task1_train_13671 | This variant affects gene ITGA8 (integrin subunit alpha 8) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; Renal hypodysplasia/aplasia 1 | ATTACTAACATTGCACAGACTTTAGCTTCCTTTTCCCTTCCTGCTGCTTTTAAATTTTTTCTCCCTGAAGGGAGTATTCCTGGGGAGAAAAGTTGACTCATGCCTCTGTCCTTCCTGGCTCTCATTTGGGACGTGTTTAGCCTTGGAAGGAAGTCAAAGGACTGGCTATGTGATGGATACATCCTCTATTTCCTTTGCCTCATCAAAGGCACAGCCTTTCTGTCAATTTTCCTGGTACTAAGGGTGGGAAGGAGACCTATGACTACCATAATAAATAGCAGTAACTTTCTAATTGTTTACCTAAAATGCAACCCAGGAGT... | ATTACTAACATTGCACAGACTTTAGCTTCCTTTTCCCTTCCTGCTGCTTTTAAATTTTTTCTCCCTGAAGGGAGTATTCCTGGGGAGAAAAGTTGACTCATGCCTCTGTCCTTCCTGGCTCTCATTTGGGACGTGTTTAGCCTTGGAAGGAAGTCAAAGGACTGGCTATGTGATGGATACATCCTCTATTTCCTTTGCCTCATCAAAGGCACAGCCTTTCTGTCAATTTTCCTGGTACTAAGGGTGGGAAGGAGACCTATGACTACCATAATAAATAGCAGTAACTTTCTAATTGTTTACCTAAAATGCAACCCAGGAGT... |
Task1_train_13672 | A variant on Chromosome 10 in gene ITGA8 (integrin subunit alpha 8) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; ITGA8-related disorder | ATTACTAACATTGCACAGACTTTAGCTTCCTTTTCCCTTCCTGCTGCTTTTAAATTTTTTCTCCCTGAAGGGAGTATTCCTGGGGAGAAAAGTTGACTCATGCCTCTGTCCTTCCTGGCTCTCATTTGGGACGTGTTTAGCCTTGGAAGGAAGTCAAAGGACTGGCTATGTGATGGATACATCCTCTATTTCCTTTGCCTCATCAAAGGCACAGCCTTTCTGTCAATTTTCCTGGTACTAAGGGTGGGAAGGAGACCTATGACTACCATAATAAATAGCAGTAACTTTCTAATTGTTTACCTAAAATGCAACCCAGGAGT... | ATTACTAACATTGCACAGACTTTAGCTTCCTTTTCCCTTCCTGCTGCTTTTAAATTTTTTCTCCCTGAAGGGAGTATTCCTGGGGAGAAAAGTTGACTCATGCCTCTGTCCTTCCTGGCTCTCATTTGGGACGTGTTTAGCCTTGGAAGGAAGTCAAAGGACTGGCTATGTGATGGATACATCCTCTATTTCCTTTGCCTCATCAAAGGCACAGCCTTTCTGTCAATTTTCCTGGTACTAAGGGTGGGAAGGAGACCTATGACTACCATAATAAATAGCAGTAACTTTCTAATTGTTTACCTAAAATGCAACCCAGGAGT... |
Task1_train_13673 | A variant affecting Chromosome 10, within the gene CUBN (cubilin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Imerslund-Grasbeck syndrome type 1 | CTATAATCCAGAAGAAGTGAGGAAGAAAAAATATATATATTTATTATGTATATATATTATAAATAAATATATGTAATTATATATAAAATATTATAAATATTCATTATATATAATATATTTATAAAATAAATTTATTTAATACATATATTTTTATATATGTATTCAACACATATGTTTATATTTGCATTAAATACATATATTTATATATGTATTAAATATTTATATGTAAACATAAATATATATAAAATAAATATATCTTTATATATAATAAATATATATTTTTTGTTATATATATGACATCACAAAAGAATAGCCATGAA... | CTATAATCCAGAAGAAGTGAGGAAGAAAAAATATATATATTTATTATGTATATATATTATAAATAAATATATGTAATTATATATAAAATATTATAAATATTCATTATATATAATATATTTATAAAATAAATTTATTTAATACATATATTTTTATATATGTATTCAACACATATGTTTATATTTGCATTAAATACATATATTTATATATGTATTAAATATTTATATGTAAACATAAATATATATAAAATAAATATATCTTTATATATAATAAATATATATTTTTTGTTATATATATGACATCACAAAAGAATAGCCATGAA... |
Task1_train_13674 | This variant impacts the gene VIM, VIM-AS1 (vimentin| VIM antisense RNA 1) on Chromosome 10. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cataract 30 | TTGGAAAACAGGACCTATGGCATTTCCCAGACAAATCACCGTGAACCCTGTACTGTGCATTGCTGTCCTAAAATTAACACATAAATCTATTGCCGCCAAAGATTCTGTCATTTGTGTTACATAATTGCCTTTCATTTGAACTCATTAATCAAATTGGGGTTTTTAAGCAACACCTAATTAATTCTTTAACTGGCTCATATTATACCTTTAATGACTTCCACCAGGGTAAAAACCACTGATCACTGAGTTCTATTTTGAAACTACGGACGTCGAGTTTCCTCTTTCACCCAGAATTTTCAGATCTTGTTTAAAAAGTTGGG... | TTGGAAAACAGGACCTATGGCATTTCCCAGACAAATCACCGTGAACCCTGTACTGTGCATTGCTGTCCTAAAATTAACACATAAATCTATTGCCGCCAAAGATTCTGTCATTTGTGTTACATAATTGCCTTTCATTTGAACTCATTAATCAAATTGGGGTTTTTAAGCAACACCTAATTAATTCTTTAACTGGCTCATATTATACCTTTAATGACTTCCACCAGGGTAAAAACCACTGATCACTGAGTTCTATTTTGAAACTACGGACGTCGAGTTTCCTCTTTCACCCAGAATTTTCAGATCTTGTTTAAAAAGTTGGG... |
Task1_train_13675 | This sequence variant lies in CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2) on Chromosome 10. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Brugada syndrome 4 | TAAATTTTTTTGCAGAGACGGGGTCTTCCTTTGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAATGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGAATTATAGGCGTGAGCTACCATGCCCAGCCTGTTTCCCGTTTTTTACTACAGCCCCTCGGTGTAGCTAGGGACATTTCATTCATGCACCTCCCTGTGTACTCATGTGAGGGTATCCCTGGGTATGTACTGAGGGGTGGGATGCCAAGCCTGAGTACTTGTGCATCAACAGTTTCATTATATCCTGCTAAATATCTAATGTGACTGTACCAGTTTATACTC... | TAAATTTTTTTGCAGAGACGGGGTCTTCCTTTGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAATGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGAATTATAGGCGTGAGCTACCATGCCCAGCCTGTTTCCCGTTTTTTACTACAGCCCCTCGGTGTAGCTAGGGACATTTCATTCATGCACCTCCCTGTGTACTCATGTGAGGGTATCCCTGGGTATGTACTGAGGGGTGGGATGCCAAGCCTGAGTACTTGTGCATCAACAGTTTCATTATATCCTGCTAAATATCTAATGTGACTGTACCAGTTTATACTC... |
Task1_train_13676 | A genetic alteration is present in MYO3A (myosin IIIA) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Nonsyndromic genetic hearing loss | ATGTCCATGAAATTGAATTGAAGTTATTGGTGTTTTATTTGGCTGAGAGGAGTGTAATTGGTTCAGAGATTTTGAAGAGCAGTTAAATAGTATATATCAAAAAACTTTCAGCCAGGCCCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTGAAAATACAAAAAAATAGCCAGGCGTGGTGGCGGGCACCTGTAGTCCCACCTACTTGGTAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAG... | ATGTCCATGAAATTGAATTGAAGTTATTGGTGTTTTATTTGGCTGAGAGGAGTGTAATTGGTTCAGAGATTTTGAAGAGCAGTTAAATAGTATATATCAAAAAACTTTCAGCCAGGCCCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTGAAAATACAAAAAAATAGCCAGGCGTGGTGGCGGGCACCTGTAGTCCCACCTACTTGGTAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAG... |
Task1_train_13677 | Here is a variant affecting MYO3A (myosin IIIA) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; nonsyndromic sensorineural hearing loss | ATGTCCATGAAATTGAATTGAAGTTATTGGTGTTTTATTTGGCTGAGAGGAGTGTAATTGGTTCAGAGATTTTGAAGAGCAGTTAAATAGTATATATCAAAAAACTTTCAGCCAGGCCCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTGAAAATACAAAAAAATAGCCAGGCGTGGTGGCGGGCACCTGTAGTCCCACCTACTTGGTAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAG... | ATGTCCATGAAATTGAATTGAAGTTATTGGTGTTTTATTTGGCTGAGAGGAGTGTAATTGGTTCAGAGATTTTGAAGAGCAGTTAAATAGTATATATCAAAAAACTTTCAGCCAGGCCCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTGAAAATACAAAAAAATAGCCAGGCGTGGTGGCGGGCACCTGTAGTCCCACCTACTTGGTAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAG... |
Task1_train_13678 | The gene PDSS1 (decaprenyl diphosphate synthase subunit 1) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | TCTTTCAGTTCTGACAGCCATCTGCTTAGCACAGGGCTACTTGCCAGTTCCTACCTGTTTCTGCCTCTGACCCACAACTGCTATGTTACCGGTACAAAACCCCCCACACACAGTGCCCCCTCGGTGAGCCCTTGTTAGGCCTGGCCTGGGCTTCCTAGCACTTCTTTCCTTTAACTCCCACCCCTGGCCGTCACAGTCCTGTGGCTTCCATGTCATATGCTGGACCTTTGGTCTCTAGGATCTCCCCGGCCAGGTGAAGAAGGAACTAAAGGCCAAAGGATCCCGAGCCTTGAGCTGCTAATGATGTAGGGGCTGGGTCG... | TCTTTCAGTTCTGACAGCCATCTGCTTAGCACAGGGCTACTTGCCAGTTCCTACCTGTTTCTGCCTCTGACCCACAACTGCTATGTTACCGGTACAAAACCCCCCACACACAGTGCCCCCTCGGTGAGCCCTTGTTAGGCCTGGCCTGGGCTTCCTAGCACTTCTTTCCTTTAACTCCCACCCCTGGCCGTCACAGTCCTGTGGCTTCCATGTCATATGCTGGACCTTTGGTCTCTAGGATCTCCCCGGCCAGGTGAAGAAGGAACTAAAGGCCAAAGGATCCCGAGCCTTGAGCTGCTAATGATGTAGGGGCTGGGTCG... |
Task1_train_13679 | A variant affecting Chromosome 10, within the gene PDSS1 (decaprenyl diphosphate synthase subunit 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | CCCCCTCGGTGAGCCCTTGTTAGGCCTGGCCTGGGCTTCCTAGCACTTCTTTCCTTTAACTCCCACCCCTGGCCGTCACAGTCCTGTGGCTTCCATGTCATATGCTGGACCTTTGGTCTCTAGGATCTCCCCGGCCAGGTGAAGAAGGAACTAAAGGCCAAAGGATCCCGAGCCTTGAGCTGCTAATGATGTAGGGGCTGGGTCGGGGAATGTAAGTGGGTACCTATATATCATAATTTGTAAAATGACTTTATAGGCATATACTTACATCAGGATGTCTTACATAATATGTATATTATATAAAGTGGTGATTAATTGGT... | CCCCCTCGGTGAGCCCTTGTTAGGCCTGGCCTGGGCTTCCTAGCACTTCTTTCCTTTAACTCCCACCCCTGGCCGTCACAGTCCTGTGGCTTCCATGTCATATGCTGGACCTTTGGTCTCTAGGATCTCCCCGGCCAGGTGAAGAAGGAACTAAAGGCCAAAGGATCCCGAGCCTTGAGCTGCTAATGATGTAGGGGCTGGGTCGGGGAATGTAAGTGGGTACCTATATATCATAATTTGTAAAATGACTTTATAGGCATATACTTACATCAGGATGTCTTACATAATATGTATATTATATAAAGTGGTGATTAATTGGT... |
Task1_train_13680 | Given this variant in gene PDSS1 (decaprenyl diphosphate synthase subunit 1) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | GTTGCTGTTGAAAGCAGTTATGAGCTTACTGTTCACTCAACTCAGTGGCCACCTGACCCTTTATGGTGCATGCAATTTTACCATGTACTTATGGCCAAGCACTACATAGTCAACAGACCTCATTAAGTTGTCAAAAAGCATTCTCAGGCTGAGGACGTTAGGCAACCTGGCTTTAGTTGGCAGAGGTGCGTGGACACTGCCAAGGCTCCTATTTCTGGTTCCAGTGGATGAGGTGGAGGAGGATTATTTGTAATAATAGCAAACAGCCAGGTGCGGTGGCTCACACCTGATAATCTCAACGCTTTGGGAGGTGGAGGTGG... | GTTGCTGTTGAAAGCAGTTATGAGCTTACTGTTCACTCAACTCAGTGGCCACCTGACCCTTTATGGTGCATGCAATTTTACCATGTACTTATGGCCAAGCACTACATAGTCAACAGACCTCATTAAGTTGTCAAAAAGCATTCTCAGGCTGAGGACGTTAGGCAACCTGGCTTTAGTTGGCAGAGGTGCGTGGACACTGCCAAGGCTCCTATTTCTGGTTCCAGTGGATGAGGTGGAGGAGGATTATTTGTAATAATAGCAAACAGCCAGGTGCGGTGGCTCACACCTGATAATCTCAACGCTTTGGGAGGTGGAGGTGG... |
Task1_train_13681 | Given a variant located on Chromosome 10 and affecting PDSS1 (decaprenyl diphosphate synthase subunit 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | CCTAGGATCCATTAAATCCGAAGGCAAAAGAAAGTCACCACACATCAGGACTAAAATGTTGACTTCCCATAAACACTATTTTATTTTATTTTTATTTTATTATTTTATTTTATTGTATTTTTCTTAGACTGAGTCTTGCTCTGTTGCCAGGCTCAAGTTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTGATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCATTAT... | CCTAGGATCCATTAAATCCGAAGGCAAAAGAAAGTCACCACACATCAGGACTAAAATGTTGACTTCCCATAAACACTATTTTATTTTATTTTTATTTTATTATTTTATTTTATTGTATTTTTCTTAGACTGAGTCTTGCTCTGTTGCCAGGCTCAAGTTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTGATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCATTAT... |
Task1_train_13682 | Given this context: Chromosome 10, gene YME1L1 (YME1 like 1 ATPase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Optic atrophy 11 | CCTGTAATCCTAGCATTTTAAGAGGTCAAGGCAGGAGGATCACTTGATCCCTGGAGTTCAAGACCAGCCTGGACAACAGGGCAAGATTCCATCTCCACAAAAATTAGCTGGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTCAGGAGGCTGAGGTGAGAGGATCACTTGAGCCCAGAAAGTTAAGGCTACAATGAGCCATGATTGCACCACTGCACTCTGGCTTAGGCAATGAAGCAAGACCGTGTCTCAAAAACAAACACAAACAAAAAATAAAGAAACAAAAACCTTTATGAAGCCATTCACACTTCCTGTTCTC... | CCTGTAATCCTAGCATTTTAAGAGGTCAAGGCAGGAGGATCACTTGATCCCTGGAGTTCAAGACCAGCCTGGACAACAGGGCAAGATTCCATCTCCACAAAAATTAGCTGGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTCAGGAGGCTGAGGTGAGAGGATCACTTGAGCCCAGAAAGTTAAGGCTACAATGAGCCATGATTGCACCACTGCACTCTGGCTTAGGCAATGAAGCAAGACCGTGTCTCAAAAACAAACACAAACAAAAAATAAAGAAACAAAAACCTTTATGAAGCCATTCACACTTCCTGTTCTC... |
Task1_train_13683 | Here is a mutation in RAB18 (RAB18, member RAS oncogene family) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Warburg micro syndrome 3 | GGAGTCCGAGACCAGCTTGGGCAACATAACGAGACCATGCCTCTAAAAAAATAAAAATAAAAAAATTAGCCGGCCATGGTGATGCACACCTGTCATGCCAGTTACTTGGGGGGCTAAGGTGGGAGGATTAGTGAGCTGTGATTCTGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCCTCTCTCTTAAAAAAAAAAAAAAAAAAGTGTGCTTCTTAATTATTTTGAGATTGTCAGTTCTTTTCAAAATCTAATAGAGAAATGGACTCTCTGTCCCTTTCAAAGTCTAATAGAGAAATGGACTCTCTGCCTAGAAAA... | GGAGTCCGAGACCAGCTTGGGCAACATAACGAGACCATGCCTCTAAAAAAATAAAAATAAAAAAATTAGCCGGCCATGGTGATGCACACCTGTCATGCCAGTTACTTGGGGGGCTAAGGTGGGAGGATTAGTGAGCTGTGATTCTGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCCTCTCTCTTAAAAAAAAAAAAAAAAAAGTGTGCTTCTTAATTATTTTGAGATTGTCAGTTCTTTTCAAAATCTAATAGAGAAATGGACTCTCTGTCCCTTTCAAAGTCTAATAGAGAAATGGACTCTCTGCCTAGAAAA... |
Task1_train_13684 | With a mutation on Chromosome 10 in gene RAB18 (RAB18, member RAS oncogene family), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Warburg micro syndrome 3 | CATAGTCCAAGGATGGTAGAAAGACAAGAGAGAGAAGGAATTGGGCCCGGAAGTAAAGGCTTGTTAAATAGGTTCATTCTTTTTTTTTTTTCTCAACAAATTCTGAGCAACTGCCTTTTTTCAAGAATTGGTCTCAGCACAATGGTTAAACTGGTGATTAAACAGATGAGTCCCTGCTTTATGAAATTTACATTTTCTACCTAGTGTACATTGTTCACTAACCCTAACATGAGTCAGAAATAACATGTAATAAAGAATGGCTTGGTTATATGCATTTTCTCAAAAGGAGATACATAGAAAACACTTAAAAGAGCCCAACC... | CATAGTCCAAGGATGGTAGAAAGACAAGAGAGAGAAGGAATTGGGCCCGGAAGTAAAGGCTTGTTAAATAGGTTCATTCTTTTTTTTTTTTCTCAACAAATTCTGAGCAACTGCCTTTTTTCAAGAATTGGTCTCAGCACAATGGTTAAACTGGTGATTAAACAGATGAGTCCCTGCTTTATGAAATTTACATTTTCTACCTAGTGTACATTGTTCACTAACCCTAACATGAGTCAGAAATAACATGTAATAAAGAATGGCTTGGTTATATGCATTTTCTCAAAAGGAGATACATAGAAAACACTTAAAAGAGCCCAACC... |
Task1_train_13685 | A mutation found in WAC (WW domain containing adaptor with coiled-coil) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; DeSanto-Shinawi syndrome due to WAC point mutation | GGCCGGGCGGCGGCGGGGGGCGGCGGCGGGGGGGCTGTTCCTCCTTATCTGGAGCTGGCCGGGCCGCCATTTTTGTTGTTAACCCTGATCCGGATCGGGTTGGGGAGGAGGAGCGGCCGCGCGGGCGGGCGGGCGGGAACGCAGTGTGGCGGGGAGCGGGGGCCCGGCTTCGCGGCATTTCGCCCTCTCCGGCCCTTCCGGAGGCTCCGGGTTTGTGCCGTGTGCGTGCGGGGCTCGGCGCTGGGGCGCTCGGTAGGTCTCCCGCGGGGAGGGGCGGCGGGGGCCCCGTTTTCTTCCTCCCCGGCCCCCCACCCGCGCCG... | GGCCGGGCGGCGGCGGGGGGCGGCGGCGGGGGGGCTGTTCCTCCTTATCTGGAGCTGGCCGGGCCGCCATTTTTGTTGTTAACCCTGATCCGGATCGGGTTGGGGAGGAGGAGCGGCCGCGCGGGCGGGCGGGCGGGAACGCAGTGTGGCGGGGAGCGGGGGCCCGGCTTCGCGGCATTTCGCCCTCTCCGGCCCTTCCGGAGGCTCCGGGTTTGTGCCGTGTGCGTGCGGGGCTCGGCGCTGGGGCGCTCGGTAGGTCTCCCGCGGGGAGGGGCGGCGGGGGCCCCGTTTTCTTCCTCCCCGGCCCCCCACCCGCGCCG... |
Task1_train_13686 | Consider a variant on Chromosome 10 in gene MTPAP (mitochondrial poly(A) polymerase). Determine its clinical classification and disease relevance. | Pathogenic; not provided | TGGCTCACGCCTGTAATTCCAACACTTTGGAAGGCCAAGGTGGGCGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCTGTCCCTACTAAAACTACAAAAATTAGCTGGGCTTGGTGGTGGGCGCCTGTAATCCCAGCTGAGGCAGGAGAATCACTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACCCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAGAAACAAAACGAAACAAAGCAAAAAAGTTGCTCCACAGAGAATGTAATGGAAATTAAATTT... | TGGCTCACGCCTGTAATTCCAACACTTTGGAAGGCCAAGGTGGGCGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCTGTCCCTACTAAAACTACAAAAATTAGCTGGGCTTGGTGGTGGGCGCCTGTAATCCCAGCTGAGGCAGGAGAATCACTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACCCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAGAAACAAAACGAAACAAAGCAAAAAAGTTGCTCCACAGAGAATGTAATGGAAATTAAATTT... |
Task1_train_13687 | This variant affects gene ZEB1-AS1, LOC130003630, ZEB1 (ZEB1 antisense RNA 1| ATAC-STARR-seq lymphoblastoid silent region 2275| zinc finger E-box binding homeobox 1) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; Posterior polymorphous corneal dystrophy 3 | GCTATTTGTAATACCTCCTAAGTTTAAGAGTAGGTAAAATGTGTGATAGAGCTGGAAAGTTTTTTTTTCCTTTCTGGTCAGAAATCAGGGTAGCTGTAAAAATGTTGGTGGGGTGGGGTCAATTCCATAGTCTATGACCTGATTCGGTAGGCGACTGAAAAACATTGTACAACTCTTAAAAAAAGGGAGGAAGAACTCACACTTAACCAAGCAAAGCAAGGACACCGTGTTGACATACACAAGTTTCGGTTAACATGGTATCAAGGAAAGCGAGGACTGCCTGTACTTAAAATGATCATTAAGACTAATGATTCTAGTTT... | GCTATTTGTAATACCTCCTAAGTTTAAGAGTAGGTAAAATGTGTGATAGAGCTGGAAAGTTTTTTTTTCCTTTCTGGTCAGAAATCAGGGTAGCTGTAAAAATGTTGGTGGGGTGGGGTCAATTCCATAGTCTATGACCTGATTCGGTAGGCGACTGAAAAACATTGTACAACTCTTAAAAAAAGGGAGGAAGAACTCACACTTAACCAAGCAAAGCAAGGACACCGTGTTGACATACACAAGTTTCGGTTAACATGGTATCAAGGAAAGCGAGGACTGCCTGTACTTAAAATGATCATTAAGACTAATGATTCTAGTTT... |
Task1_train_13688 | Chromosome 10 houses a mutation in gene LOC130003630, ZEB1, ZEB1-AS1 (ATAC-STARR-seq lymphoblastoid silent region 2275| zinc finger E-box binding homeobox 1| ZEB1 antisense RNA 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | TATTTGTAATACCTCCTAAGTTTAAGAGTAGGTAAAATGTGTGATAGAGCTGGAAAGTTTTTTTTTCCTTTCTGGTCAGAAATCAGGGTAGCTGTAAAAATGTTGGTGGGGTGGGGTCAATTCCATAGTCTATGACCTGATTCGGTAGGCGACTGAAAAACATTGTACAACTCTTAAAAAAAGGGAGGAAGAACTCACACTTAACCAAGCAAAGCAAGGACACCGTGTTGACATACACAAGTTTCGGTTAACATGGTATCAAGGAAAGCGAGGACTGCCTGTACTTAAAATGATCATTAAGACTAATGATTCTAGTTTTG... | TATTTGTAATACCTCCTAAGTTTAAGAGTAGGTAAAATGTGTGATAGAGCTGGAAAGTTTTTTTTTCCTTTCTGGTCAGAAATCAGGGTAGCTGTAAAAATGTTGGTGGGGTGGGGTCAATTCCATAGTCTATGACCTGATTCGGTAGGCGACTGAAAAACATTGTACAACTCTTAAAAAAAGGGAGGAAGAACTCACACTTAACCAAGCAAAGCAAGGACACCGTGTTGACATACACAAGTTTCGGTTAACATGGTATCAAGGAAAGCGAGGACTGCCTGTACTTAAAATGATCATTAAGACTAATGATTCTAGTTTTG... |
Task1_train_13689 | The gene ZEB1 (zinc finger E-box binding homeobox 1) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Corneal dystrophy, Fuchs endothelial, 6 | TTTAAATTATAAATTAGTGAACTATAACTTAAAACTCAAAGGAAACATTAGGTTTGTAGGAAAATATTCCATTTAGCTCGGTGCTTTCAAAATTTTCTACCAAAGTATCCCTAACAGCCAAGGAGAATAAATGCCTTTTACCCCACAGAGTCTAGGGAAGCAGCTTGAGGGAAGCCTCTGCAAGCCAAAGGCTACTTTGACAGTGCGTGGCTTTTCCTAGCAAGTCACACAAATGTGTTTTTCTCTGTTTTAATATAAAAATAATGTTTTATCATATCCACTGTCACTAAAATTGAAACTCCAAGGTGCTTTGATACCCA... | TTTAAATTATAAATTAGTGAACTATAACTTAAAACTCAAAGGAAACATTAGGTTTGTAGGAAAATATTCCATTTAGCTCGGTGCTTTCAAAATTTTCTACCAAAGTATCCCTAACAGCCAAGGAGAATAAATGCCTTTTACCCCACAGAGTCTAGGGAAGCAGCTTGAGGGAAGCCTCTGCAAGCCAAAGGCTACTTTGACAGTGCGTGGCTTTTCCTAGCAAGTCACACAAATGTGTTTTTCTCTGTTTTAATATAAAAATAATGTTTTATCATATCCACTGTCACTAAAATTGAAACTCCAAGGTGCTTTGATACCCA... |
Task1_train_13690 | This alteration occurs within gene KIF5B (kinesin family member 5B) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Severe muscular hypotonia | GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCAT... | GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCAT... |
Task1_train_13691 | Given this context: Chromosome 10, gene KIF5B (kinesin family member 5B) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Global developmental delay | GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCAT... | GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCAT... |
Task1_train_13692 | This is a variant in KIF5B (kinesin family member 5B), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Intellectual disability | GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCAT... | GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCAT... |
Task1_train_13693 | The variant affects gene KIF5B (kinesin family member 5B), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Abnormal facial shape | GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCAT... | GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCAT... |
Task1_train_13694 | A variant was discovered on Chromosome 10, affecting KIF5B (kinesin family member 5B). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Seizure | GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCAT... | GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCAT... |
Task1_train_13695 | A variant affecting Chromosome 10, within the gene KIF5B (kinesin family member 5B), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Respiratory distress | GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCAT... | GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCAT... |
Task1_train_13696 | Mutation context: Chromosome 10, Gene KIF5B (kinesin family member 5B). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; KIF5B-related developmental disorder | GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCAT... | GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCAT... |
Task1_train_13697 | This alteration in KIF5B (kinesin family member 5B) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Severe muscular hypotonia | AAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTT... | AAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTT... |
Task1_train_13698 | A genomic change on Chromosome 10 affects KIF5B (kinesin family member 5B). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Fatigable weakness of swallowing muscles | AAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTT... | AAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTT... |
Task1_train_13699 | Gene KIF5B (kinesin family member 5B), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Feeding difficulties | AAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTT... | AAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTT... |
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