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_26300 | With a mutation on Chromosome 19 in gene DOHH (deoxyhypusine hydroxylase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment | ATGCCCCGGGGCAGGATCCAGCACTCCGGTGGAGAACATGGCTCAGTGGATAGTCGGTTCCCGTTGCGTTTTGCCTCCTGTCTTCTGGTTTTGGCCTCTCTGGCTGCAGACCAGGAGCTCTGCACCTGAGATTCTACCGCTATGCCTATTTTACAGAGAGGTAAGTGGGCTGTCCCCAGCCACACATGGAAGGGCTGCGGGAGCCGGCGGAGGAAGCCATGTCTGGGCTCTCAGCTGGACCACAGAACCCCTTCCACTGCACCCACAACAGGAGCTGGGGGAAGACGGGGGTCCGGGAAGGGCCAGGCTGGAGGGCTGTT... | ATGCCCCGGGGCAGGATCCAGCACTCCGGTGGAGAACATGGCTCAGTGGATAGTCGGTTCCCGTTGCGTTTTGCCTCCTGTCTTCTGGTTTTGGCCTCTCTGGCTGCAGACCAGGAGCTCTGCACCTGAGATTCTACCGCTATGCCTATTTTACAGAGAGGTAAGTGGGCTGTCCCCAGCCACACATGGAAGGGCTGCGGGAGCCGGCGGAGGAAGCCATGTCTGGGCTCTCAGCTGGACCACAGAACCCCTTCCACTGCACCCACAACAGGAGCTGGGGGAAGACGGGGGTCCGGGAAGGGCCAGGCTGGAGGGCTGTT... |
Task1_train_26301 | Here is a genetic alteration in DOHH (deoxyhypusine hydroxylase) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; DOHH related neurodevelopmental disorder | ATGCCCCGGGGCAGGATCCAGCACTCCGGTGGAGAACATGGCTCAGTGGATAGTCGGTTCCCGTTGCGTTTTGCCTCCTGTCTTCTGGTTTTGGCCTCTCTGGCTGCAGACCAGGAGCTCTGCACCTGAGATTCTACCGCTATGCCTATTTTACAGAGAGGTAAGTGGGCTGTCCCCAGCCACACATGGAAGGGCTGCGGGAGCCGGCGGAGGAAGCCATGTCTGGGCTCTCAGCTGGACCACAGAACCCCTTCCACTGCACCCACAACAGGAGCTGGGGGAAGACGGGGGTCCGGGAAGGGCCAGGCTGGAGGGCTGTT... | ATGCCCCGGGGCAGGATCCAGCACTCCGGTGGAGAACATGGCTCAGTGGATAGTCGGTTCCCGTTGCGTTTTGCCTCCTGTCTTCTGGTTTTGGCCTCTCTGGCTGCAGACCAGGAGCTCTGCACCTGAGATTCTACCGCTATGCCTATTTTACAGAGAGGTAAGTGGGCTGTCCCCAGCCACACATGGAAGGGCTGCGGGAGCCGGCGGAGGAAGCCATGTCTGGGCTCTCAGCTGGACCACAGAACCCCTTCCACTGCACCCACAACAGGAGCTGGGGGAAGACGGGGGTCCGGGAAGGGCCAGGCTGGAGGGCTGTT... |
Task1_train_26302 | This mutation occurs in FZR1 (fizzy and cell division cycle 20 related 1) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy 109 | TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCGCCTGGCCCACCCCTTGGGTTTTCAAGATCAAAGCCCCCTTTGCTCAGTGGCCAGAGGCTGAGAGAGGCTGGCCTGGGGGCACTCTCGGGGGGCTCTCGGTGCTGAGAGCAAGCCCTCTGCTGATGCCCTTCAGGTCACAGAGATGCGGCGGACCCTGACGCCTGCCAGCTCCCCAGTGTCCTCGCCCAGCAAGCACGGAGACCGCTTCATCCCCTCCAGAGCCGGAGCCAACTGGAGCGTGAACTTCCACAGGATT... | TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCGCCTGGCCCACCCCTTGGGTTTTCAAGATCAAAGCCCCCTTTGCTCAGTGGCCAGAGGCTGAGAGAGGCTGGCCTGGGGGCACTCTCGGGGGGCTCTCGGTGCTGAGAGCAAGCCCTCTGCTGATGCCCTTCAGGTCACAGAGATGCGGCGGACCCTGACGCCTGCCAGCTCCCCAGTGTCCTCGCCCAGCAAGCACGGAGACCGCTTCATCCCCTCCAGAGCCGGAGCCAACTGGAGCGTGAACTTCCACAGGATT... |
Task1_train_26303 | A mutation found in FZR1 (fizzy and cell division cycle 20 related 1) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Developmental and epileptic encephalopathy 109 | GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCGCCTGGCCCACCCCTTGGGTTTTCAAGATCAAAGCCCCCTTTGCTCAGTGGCCAGAGGCTGAGAGAGGCTGGCCTGGGGGCACTCTCGGGGGGCTCTCGGTGCTGAGAGCAAGCCCTCTGCTGATGCCCTTCAGGTCACAGAGATGCGGCGGACCCTGACGCCTGCCAGCTCCCCAGTGTCCTCGCCCAGCAAGCACGGAGACCGCTTCATCCCCTCCAGAGCCGGAGCCAACTGGAGCGTGAACTTCCACAGGATTA... | GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCGCCTGGCCCACCCCTTGGGTTTTCAAGATCAAAGCCCCCTTTGCTCAGTGGCCAGAGGCTGAGAGAGGCTGGCCTGGGGGCACTCTCGGGGGGCTCTCGGTGCTGAGAGCAAGCCCTCTGCTGATGCCCTTCAGGTCACAGAGATGCGGCGGACCCTGACGCCTGCCAGCTCCCCAGTGTCCTCGCCCAGCAAGCACGGAGACCGCTTCATCCCCTCCAGAGCCGGAGCCAACTGGAGCGTGAACTTCCACAGGATTA... |
Task1_train_26304 | Assess the clinical impact of this variant on gene FZR1 (fizzy and cell division cycle 20 related 1), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy 109 | GTGAGCGGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCGGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGCGGATGGGTGAGCGGATGGGAGAGCGCATGGGTGAGCAGATGCAAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCGGATGGGAGAGCAGATGGGAGAGTGGATGGGTGAGCGGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGCAGGGGAGAGCGGAGGAGAGAGCGGAGGAGAGTGGTTGAGGGAGTGGATGGTTGAGCAGAAGGGA... | GTGAGCGGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCGGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGCGGATGGGTGAGCGGATGGGAGAGCGCATGGGTGAGCAGATGCAAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCGGATGGGAGAGCAGATGGGAGAGTGGATGGGTGAGCGGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGCAGGGGAGAGCGGAGGAGAGAGCGGAGGAGAGTGGTTGAGGGAGTGGATGGTTGAGCAGAAGGGA... |
Task1_train_26305 | A change on Chromosome 19 affects gene FZR1 (fizzy and cell division cycle 20 related 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy 109 | GTGAGCGGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCGGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGCGGATGGGTGAGCGGATGGGAGAGCGCATGGGTGAGCAGATGCAAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCGGATGGGAGAGCAGATGGGAGAGTGGATGGGTGAGCGGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGCAGGGGAGAGCGGAGGAGAGAGCGGAGGAGAGTGGTTGAGGGAGTGGATGGTTGAGCAGAAGGGA... | GTGAGCGGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCGGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGCGGATGGGTGAGCGGATGGGAGAGCGCATGGGTGAGCAGATGCAAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCGGATGGGAGAGCAGATGGGAGAGTGGATGGGTGAGCGGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGCAGGGGAGAGCGGAGGAGAGAGCGGAGGAGAGTGGTTGAGGGAGTGGATGGTTGAGCAGAAGGGA... |
Task1_train_26306 | The following genetic variant occurs in GIPC3 (GIPC PDZ domain containing family member 3) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 15 | CTGTGCCCTGGACACTGGGCATGGGGACAGAGCAGGGGAACAGCCCCCACCCTCCTGGAGCTGACATTCCTCCAGTCCTGGGGACAAACAGGACAAAAGATGAAATGAAATATCAGCAGGGGGCTGGGGCTCAAGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCGGGAGGATTCCTTGAGGTCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAACTAATCAGGAGGCTGAGGCAGAAGAATCGCTTG... | CTGTGCCCTGGACACTGGGCATGGGGACAGAGCAGGGGAACAGCCCCCACCCTCCTGGAGCTGACATTCCTCCAGTCCTGGGGACAAACAGGACAAAAGATGAAATGAAATATCAGCAGGGGGCTGGGGCTCAAGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCGGGAGGATTCCTTGAGGTCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAACTAATCAGGAGGCTGAGGCAGAAGAATCGCTTG... |
Task1_train_26307 | This variant impacts the gene GIPC3 (GIPC PDZ domain containing family member 3) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 15 | TAAATAAAAATAATAAAATAAAATAAAACAATGACCTCGCCTAGCAGAGGGTGAGTGCTCCAGCACCCTCAGCTGTCCCTGTCCTTTTTTTTTTTTTTTTTTTTTTTTTTGCGACGGAGTCTCGCTTTGTTGCCCAGGCTGGAGTGTAATGGCGCCATCTCAGCTCACTGCCACCTCCGCCTCCCGGGTTCAAGAGATCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGTCCGGCTGATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCAG... | TAAATAAAAATAATAAAATAAAATAAAACAATGACCTCGCCTAGCAGAGGGTGAGTGCTCCAGCACCCTCAGCTGTCCCTGTCCTTTTTTTTTTTTTTTTTTTTTTTTTTGCGACGGAGTCTCGCTTTGTTGCCCAGGCTGGAGTGTAATGGCGCCATCTCAGCTCACTGCCACCTCCGCCTCCCGGGTTCAAGAGATCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGTCCGGCTGATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCAG... |
Task1_train_26308 | A variant found in Chromosome 19 affects GIPC3 (GIPC PDZ domain containing family member 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | TAGAGACGGGGTTTCACCATCTTGACCAGTCTGGTCTCGAACTTCTGACCTCAAGTGCTCCACCCGCCTCAGTCTCCCAAAATGCTAGGATTATAGGCGTGAGCCACCGCGCGCAGCCTGGGAACTTTTAAAGCAGTGCTTTGAGGTCATGGTGGATTGTAGAGAATGAGAATATGAGAAAAAAGTTTTCTTTCTTTTCTTTTTTTTTTCCTTTCTTTTTTCTTTTCTTTTCTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCCAGACTGCAGTGCAGTGGCTAGATTTCAGCTCACTGCAAGCTCCGCCTCCC... | TAGAGACGGGGTTTCACCATCTTGACCAGTCTGGTCTCGAACTTCTGACCTCAAGTGCTCCACCCGCCTCAGTCTCCCAAAATGCTAGGATTATAGGCGTGAGCCACCGCGCGCAGCCTGGGAACTTTTAAAGCAGTGCTTTGAGGTCATGGTGGATTGTAGAGAATGAGAATATGAGAAAAAAGTTTTCTTTCTTTTCTTTTTTTTTTCCTTTCTTTTTTCTTTTCTTTTCTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCCAGACTGCAGTGCAGTGGCTAGATTTCAGCTCACTGCAAGCTCCGCCTCCC... |
Task1_train_26309 | Gene GIPC3 (GIPC PDZ domain containing family member 3) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 15 | CCACACCCGGCTAATTTTTTGTATTTTAGTAGAGATGAGGTTTTACCGTGTTAGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCGCGCCTGGCCGTGCCAGCTAATTTTTAATTTTTTTCTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGCATGTGCCACCATGC... | CCACACCCGGCTAATTTTTTGTATTTTAGTAGAGATGAGGTTTTACCGTGTTAGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCGCGCCTGGCCGTGCCAGCTAATTTTTAATTTTTTTCTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGCATGTGCCACCATGC... |
Task1_train_26310 | This variant affects gene GIPC3 (GIPC PDZ domain containing family member 3) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 15 | TTGTATTTTAGTAGAGATGAGGTTTTACCGTGTTAGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCGCGCCTGGCCGTGCCAGCTAATTTTTAATTTTTTTCTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAATTTTGTATTT... | TTGTATTTTAGTAGAGATGAGGTTTTACCGTGTTAGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCGCGCCTGGCCGTGCCAGCTAATTTTTAATTTTTTTCTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAATTTTGTATTT... |
Task1_train_26311 | An alteration has been detected in PIP5K1C (phosphatidylinositol-4-phosphate 5-kinase type 1 gamma) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Lethal congenital contracture syndrome 3 | GTGGGCTGTGTCCTGCTGTGAGCCCTGCCTCGCCCGATCCCTCTGGCCTCCCATGCGCCTTCCACACCTTTGTGGCCCCTCTCTGCACGGGTGGCGTGTAGACCCCTCTGAGTGCCACCGGGAAACGCTATCTCTCTCTCATTCCTGTGGATGGCCAGTGGCCTCGGCCCAGTCACGGGTGAATGGGAAACGCCCCCACCATTGCAAGCCAAGGCCCGGAACCCTGCACTCAGCCTGCGGCCCGCACTACGGCCTGGCTTCGCTCTGAGGCGCTGGCACAAGGCTCCCAGACTCTGTCTGTCACCCACGCATGCCCTCGC... | GTGGGCTGTGTCCTGCTGTGAGCCCTGCCTCGCCCGATCCCTCTGGCCTCCCATGCGCCTTCCACACCTTTGTGGCCCCTCTCTGCACGGGTGGCGTGTAGACCCCTCTGAGTGCCACCGGGAAACGCTATCTCTCTCTCATTCCTGTGGATGGCCAGTGGCCTCGGCCCAGTCACGGGTGAATGGGAAACGCCCCCACCATTGCAAGCCAAGGCCCGGAACCCTGCACTCAGCCTGCGGCCCGCACTACGGCCTGGCTTCGCTCTGAGGCGCTGGCACAAGGCTCCCAGACTCTGTCTGTCACCCACGCATGCCCTCGC... |
Task1_train_26312 | This variant affects the gene RAX2 (retina and anterior neural fold homeobox 2) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Cone-rod dystrophy 11 | CCAGCCGTTCCCACCCTCCTGTTGTTCCCCAAGGTTCTGAGGGTAAAAATCAAAGTTATAACAGCCACTGGCCCTGCCTGGCCTCCCCATCACCTCCCTCCTCCCCCTCCTCACTCTGCTCCAGCCGCATGGGCCTCCTCGCTATTCTTTCAATGCACGAGGCGTGGTCCTGCCCCAGGGCCTTTGCACAGCCTGTGCCTCTGCCCAGCTCCCTCCTTCCCTAGACCTTCTCCCTCCCGCCCCCGGTCTCTACCTTCACGCCAGCCTCCCCTCCTCCAGAACTCCCTATTAAAATTGCAGCCCCTGCCACACTCCACATC... | CCAGCCGTTCCCACCCTCCTGTTGTTCCCCAAGGTTCTGAGGGTAAAAATCAAAGTTATAACAGCCACTGGCCCTGCCTGGCCTCCCCATCACCTCCCTCCTCCCCCTCCTCACTCTGCTCCAGCCGCATGGGCCTCCTCGCTATTCTTTCAATGCACGAGGCGTGGTCCTGCCCCAGGGCCTTTGCACAGCCTGTGCCTCTGCCCAGCTCCCTCCTTCCCTAGACCTTCTCCCTCCCGCCCCCGGTCTCTACCTTCACGCCAGCCTCCCCTCCTCCAGAACTCCCTATTAAAATTGCAGCCCCTGCCACACTCCACATC... |
Task1_train_26313 | This alteration in RAX2 (retina and anterior neural fold homeobox 2) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Retinitis pigmentosa 95 | GAGCCCAGGCTGGAGACGGGGAGGGTAGCTACTGCAGCTCCTGCCCTGGTGCCGCACTTCTGTCCCGGGAGGTGGCGCTGGCCCAGACTGTCCCATCCCATGCCTCAGGGCCCCCTCCTGCTGCACTGGGCCAGCCGTGCTTGCCAGTCCCAGCGGGTTCTCGGCCCCGCGACAGCCTCCTTGCTCAGAGCTCTTGGGCGATGCGGCTGGGTTGGACAGAGCAGATGCTGGCCATGCCTCCACTGGGGACATGCACAGGGCCTGGGGTCTGTGGGGACGTGAGGAACGGTCTGACGATGACGACACACCCAGCATCAGCC... | GAGCCCAGGCTGGAGACGGGGAGGGTAGCTACTGCAGCTCCTGCCCTGGTGCCGCACTTCTGTCCCGGGAGGTGGCGCTGGCCCAGACTGTCCCATCCCATGCCTCAGGGCCCCCTCCTGCTGCACTGGGCCAGCCGTGCTTGCCAGTCCCAGCGGGTTCTCGGCCCCGCGACAGCCTCCTTGCTCAGAGCTCTTGGGCGATGCGGCTGGGTTGGACAGAGCAGATGCTGGCCATGCCTCCACTGGGGACATGCACAGGGCCTGGGGTCTGTGGGGACGTGAGGAACGGTCTGACGATGACGACACACCCAGCATCAGCC... |
Task1_train_26314 | A variant on Chromosome 19 in gene ATCAY (ATCAY kinesin light chain interacting caytaxin) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | TTGAATTGAATAAAGATTCCTAATGTTCACGTTCCCAGTTACAAATCTGGGATGAGCGAAAGAGACGAGGGCTTCACTTTCCCTTGAACAACAGGACACATTCACAGCAGGCCCGATTTTCAAGGAAGACTCTTTAAACATGCTGTTTTCAAGGACTGCTAAGTACCCTGAAGGGGCTTATTTGCATATTAGCGAAATGAGATGAGGAATACACTAATTATGGATCATTTTAGCTAATAATGAATCAACAGGCAAAACGGTAAACACGCATTTCAGTCTAAGATAATTGCATTTGCTCCTCTATATTCCAGAATTCAGTA... | TTGAATTGAATAAAGATTCCTAATGTTCACGTTCCCAGTTACAAATCTGGGATGAGCGAAAGAGACGAGGGCTTCACTTTCCCTTGAACAACAGGACACATTCACAGCAGGCCCGATTTTCAAGGAAGACTCTTTAAACATGCTGTTTTCAAGGACTGCTAAGTACCCTGAAGGGGCTTATTTGCATATTAGCGAAATGAGATGAGGAATACACTAATTATGGATCATTTTAGCTAATAATGAATCAACAGGCAAAACGGTAAACACGCATTTCAGTCTAAGATAATTGCATTTGCTCCTCTATATTCCAGAATTCAGTA... |
Task1_train_26315 | A change on Chromosome 19 affects gene EEF2 (eukaryotic translation elongation factor 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | CAGAGTCACCACCTTATCAAATTTATTATTCCAATGGCACTAGTACAGCTGGAGGTGCTCATGGTGACACCGCACAGGACTTCCTGCCTGCTAGAAATCATCTACCCGCGTGTTCCTTTCCCCTTTCTGGGGCAAAAGCCACTGCGGGCCATGTACCCAAATAAACCTCTTAATGCGTTTGTTAAAATTAGTTTGGACATCTGAGTTTCCCTCTGAAGAAATGGAAAAAGTGTTGGGTGTCCCATCCCGCCTCCCCCTCCCCGACCGGCCCATTAAGTCCCTACTAAGAGGGCGTGTCTGCTGCCTCCGGACTCTGGAAA... | CAGAGTCACCACCTTATCAAATTTATTATTCCAATGGCACTAGTACAGCTGGAGGTGCTCATGGTGACACCGCACAGGACTTCCTGCCTGCTAGAAATCATCTACCCGCGTGTTCCTTTCCCCTTTCTGGGGCAAAAGCCACTGCGGGCCATGTACCCAAATAAACCTCTTAATGCGTTTGTTAAAATTAGTTTGGACATCTGAGTTTCCCTCTGAAGAAATGGAAAAAGTGTTGGGTGTCCCATCCCGCCTCCCCCTCCCCGACCGGCCCATTAAGTCCCTACTAAGAGGGCGTGTCTGCTGCCTCCGGACTCTGGAAA... |
Task1_train_26316 | Mutation context: Chromosome 19, Gene ZBTB7A (zinc finger and BTB domain containing 7A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | GACCCCGTGGACAGAAGCGGGCGCTAAGACCTCTTCACGTCAGAACCAAAAAAGGGGACAGAAAGGGGGAGCGGGGGGAACACAGCACGAACACCCCACAGTCCTGCCTTCGAGGCTGACGTCTGGGGGTGAAGCACAAACACCTCGGGGCGTCTCCCAGGTCCCCTGCGATGGCTTCCTCCTGAACCCCCCTTCTCGCTTTTTGGGGAACAGAAGTGGATTCTACGTTTGTGGTGGGTTTTTTTTTTTATTATTTTGTACAAAAATAAATCGACTTTTAGGAATTTCTTCTGCTCTCGCTCTCTCTCTCGCTCTCTCTC... | GACCCCGTGGACAGAAGCGGGCGCTAAGACCTCTTCACGTCAGAACCAAAAAAGGGGACAGAAAGGGGGAGCGGGGGGAACACAGCACGAACACCCCACAGTCCTGCCTTCGAGGCTGACGTCTGGGGGTGAAGCACAAACACCTCGGGGCGTCTCCCAGGTCCCCTGCGATGGCTTCCTCCTGAACCCCCCTTCTCGCTTTTTGGGGAACAGAAGTGGATTCTACGTTTGTGGTGGGTTTTTTTTTTTATTATTTTGTACAAAAATAAATCGACTTTTAGGAATTTCTTCTGCTCTCGCTCTCTCTCTCGCTCTCTCTC... |
Task1_train_26317 | A variant was discovered on Chromosome 19, affecting ZBTB7A (zinc finger and BTB domain containing 7A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | AGAGCACGGGGTGGGGGAAAAGAGGAAGCAGGTGGGTCTAAATTGGGGTGGGAGGAAGAGGTCTCCACAATTGTCCCTCTCTAAGCCTCAGTTTCTCTGACTGAGGGGATCAGCCCCGGGTCGGGTGGGATAGCCAGCAGTGCCCGAGTCAGAATGAAACCGGGCCTGTGGCCTGCGGCCAGGGAGGCAGGGTGGGGGTCACCACCTTCGCTCAGCCTGGTCCCCTCTGCAGACCCCAGTTCTCTGCACCCCACCAAGCTGCTCTTCCTGAGCTCAGAGACGAACCCACAGTGACCCCTGCCTGGAGGAAGAGGAGCCCC... | AGAGCACGGGGTGGGGGAAAAGAGGAAGCAGGTGGGTCTAAATTGGGGTGGGAGGAAGAGGTCTCCACAATTGTCCCTCTCTAAGCCTCAGTTTCTCTGACTGAGGGGATCAGCCCCGGGTCGGGTGGGATAGCCAGCAGTGCCCGAGTCAGAATGAAACCGGGCCTGTGGCCTGCGGCCAGGGAGGCAGGGTGGGGGTCACCACCTTCGCTCAGCCTGGTCCCCTCTGCAGACCCCAGTTCTCTGCACCCCACCAAGCTGCTCTTCCTGAGCTCAGAGACGAACCCACAGTGACCCCTGCCTGGAGGAAGAGGAGCCCC... |
Task1_train_26318 | This gene mutation involves MAP2K2 (mitogen-activated protein kinase kinase 2) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; RASopathy | AGTGCTGGGATTACAGGTGTGAGCCACCGCCCCTGGCTAGACCACCTCGGAACTTTTAAAGGGTGCACTCCATAACACAGACAGCACGGCCTGTGTCTCCCTCCTGCAGCCTGGTGGTCTGTGTGGTGTCCCCTGGGGTGCCAGCACCCACTCTGGGAACCCCCATTTTAAATTCACCAAGAATAGAGGTTGGGGGCGGGTTGCCACACTGTCCCCTTTCTGCATGGGAGGAAGGGGGCTCGAGAACTGAGTCAGCCACACAAAACGAGGATGGACAGAACTCCTGAGTAGCGAGGGTGCCTGCCGGGCGCGAGGAGGAG... | AGTGCTGGGATTACAGGTGTGAGCCACCGCCCCTGGCTAGACCACCTCGGAACTTTTAAAGGGTGCACTCCATAACACAGACAGCACGGCCTGTGTCTCCCTCCTGCAGCCTGGTGGTCTGTGTGGTGTCCCCTGGGGTGCCAGCACCCACTCTGGGAACCCCCATTTTAAATTCACCAAGAATAGAGGTTGGGGGCGGGTTGCCACACTGTCCCCTTTCTGCATGGGAGGAAGGGGGCTCGAGAACTGAGTCAGCCACACAAAACGAGGATGGACAGAACTCCTGAGTAGCGAGGGTGCCTGCCGGGCGCGAGGAGGAG... |
Task1_train_26319 | Here is a genetic alteration in MAP2K2 (mitogen-activated protein kinase kinase 2) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | GTGAGCCACCGCCCCTGGCTAGACCACCTCGGAACTTTTAAAGGGTGCACTCCATAACACAGACAGCACGGCCTGTGTCTCCCTCCTGCAGCCTGGTGGTCTGTGTGGTGTCCCCTGGGGTGCCAGCACCCACTCTGGGAACCCCCATTTTAAATTCACCAAGAATAGAGGTTGGGGGCGGGTTGCCACACTGTCCCCTTTCTGCATGGGAGGAAGGGGGCTCGAGAACTGAGTCAGCCACACAAAACGAGGATGGACAGAACTCCTGAGTAGCGAGGGTGCCTGCCGGGCGCGAGGAGGAGGGGGAAGACGAGGAAGAC... | GTGAGCCACCGCCCCTGGCTAGACCACCTCGGAACTTTTAAAGGGTGCACTCCATAACACAGACAGCACGGCCTGTGTCTCCCTCCTGCAGCCTGGTGGTCTGTGTGGTGTCCCCTGGGGTGCCAGCACCCACTCTGGGAACCCCCATTTTAAATTCACCAAGAATAGAGGTTGGGGGCGGGTTGCCACACTGTCCCCTTTCTGCATGGGAGGAAGGGGGCTCGAGAACTGAGTCAGCCACACAAAACGAGGATGGACAGAACTCCTGAGTAGCGAGGGTGCCTGCCGGGCGCGAGGAGGAGGGGGAAGACGAGGAAGAC... |
Task1_train_26320 | This alteration occurs within gene MAP2K2 (mitogen-activated protein kinase kinase 2) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; RASopathy | GTGAGCCACCGCCCCTGGCTAGACCACCTCGGAACTTTTAAAGGGTGCACTCCATAACACAGACAGCACGGCCTGTGTCTCCCTCCTGCAGCCTGGTGGTCTGTGTGGTGTCCCCTGGGGTGCCAGCACCCACTCTGGGAACCCCCATTTTAAATTCACCAAGAATAGAGGTTGGGGGCGGGTTGCCACACTGTCCCCTTTCTGCATGGGAGGAAGGGGGCTCGAGAACTGAGTCAGCCACACAAAACGAGGATGGACAGAACTCCTGAGTAGCGAGGGTGCCTGCCGGGCGCGAGGAGGAGGGGGAAGACGAGGAAGAC... | GTGAGCCACCGCCCCTGGCTAGACCACCTCGGAACTTTTAAAGGGTGCACTCCATAACACAGACAGCACGGCCTGTGTCTCCCTCCTGCAGCCTGGTGGTCTGTGTGGTGTCCCCTGGGGTGCCAGCACCCACTCTGGGAACCCCCATTTTAAATTCACCAAGAATAGAGGTTGGGGGCGGGTTGCCACACTGTCCCCTTTCTGCATGGGAGGAAGGGGGCTCGAGAACTGAGTCAGCCACACAAAACGAGGATGGACAGAACTCCTGAGTAGCGAGGGTGCCTGCCGGGCGCGAGGAGGAGGGGGAAGACGAGGAAGAC... |
Task1_train_26321 | This variant lies on Chromosome 19 and affects the gene MAP2K2 (mitogen-activated protein kinase kinase 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; RASopathy | CTTGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGC... | CTTGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGC... |
Task1_train_26322 | This alteration occurs within gene MAP2K2 (mitogen-activated protein kinase kinase 2) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; RASopathy | TTGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCA... | TTGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCA... |
Task1_train_26323 | Given a variant located on Chromosome 19 and affecting MAP2K2 (mitogen-activated protein kinase kinase 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cardio-facio-cutaneous syndrome | TGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCAG... | TGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCAG... |
Task1_train_26324 | This variant lies on Chromosome 19 and affects the gene MAP2K2 (mitogen-activated protein kinase kinase 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; RASopathy | TGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCAG... | TGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCAG... |
Task1_train_26325 | The gene MAP2K2 (mitogen-activated protein kinase kinase 2), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cardiofaciocutaneous syndrome 4 | TGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCAG... | TGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCAG... |
Task1_train_26326 | This variant lies on Chromosome 19 and affects the gene DPP9, LOC126862841 (dipeptidyl peptidase 9| BRD4-independent group 4 enhancer GRCh37_chr19:4703720-4704919). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hatipoglu immunodeficiency syndrome | AGGGTGCCAGAGGCAGAGTCCCTGCCATCAGCACCCCCCGCCCCCTGCAGCACCGGGGCCTGAAGATGGGCACCGAGGGCTCTGAAACCAGAACCCCGGCTCTGCCATTCGCTAGACCTTATGCCAGTCCCAACTCTCTGGGCTTCAGTTTCCTCCCCTGTGCAGTGGGAAGCAGAGCAGGGCTACTCCCAGCATGAACTGGCATGGGAAGTGGCCACGTGGGGTGTAACGGGCTGAACTGTGTCCCCTCTTAGGGCAACAGCGATGTCTACAGTCGTTAAGGAACTCTCTAGGTGTTGGTATTGACAGACTGTGGAGGT... | AGGGTGCCAGAGGCAGAGTCCCTGCCATCAGCACCCCCCGCCCCCTGCAGCACCGGGGCCTGAAGATGGGCACCGAGGGCTCTGAAACCAGAACCCCGGCTCTGCCATTCGCTAGACCTTATGCCAGTCCCAACTCTCTGGGCTTCAGTTTCCTCCCCTGTGCAGTGGGAAGCAGAGCAGGGCTACTCCCAGCATGAACTGGCATGGGAAGTGGCCACGTGGGGTGTAACGGGCTGAACTGTGTCCCCTCTTAGGGCAACAGCGATGTCTACAGTCGTTAAGGAACTCTCTAGGTGTTGGTATTGACAGACTGTGGAGGT... |
Task1_train_26327 | This genomic variant is located on Chromosome 19, within the KDM4B (lysine demethylase 4B) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Intellectual developmental disorder, autosomal dominant 65 | CCCAGAAGGAGCAGAGTGTTTCATTCCCTGTGCGGAGGGGTCTTTAATCCCACAAAGGTGCTTTGGATTGGGATTAAAATTTCTCATCTTTATGTAAATCATAAAAGCCCATTTAAAAAAGAGGAATGCACCCCTGTCTAGACAGTGGAAGACTCTCTGAGGACGACAGAGTTGAAGGTGCTGGGGTCGCCTTGGCTGGGGACCCTGGGAGCATGCCCAGAAATTAATTATTTGTGTCCTGTTAGATTAGAGGCTCCGTGATGTTCGCCTCTTCTCTGGCTCCTGCCCCCTCCTTATTTATTTTTATTTTTATTTTTATT... | CCCAGAAGGAGCAGAGTGTTTCATTCCCTGTGCGGAGGGGTCTTTAATCCCACAAAGGTGCTTTGGATTGGGATTAAAATTTCTCATCTTTATGTAAATCATAAAAGCCCATTTAAAAAAGAGGAATGCACCCCTGTCTAGACAGTGGAAGACTCTCTGAGGACGACAGAGTTGAAGGTGCTGGGGTCGCCTTGGCTGGGGACCCTGGGAGCATGCCCAGAAATTAATTATTTGTGTCCTGTTAGATTAGAGGCTCCGTGATGTTCGCCTCTTCTCTGGCTCCTGCCCCCTCCTTATTTATTTTTATTTTTATTTTTATT... |
Task1_train_26328 | A change on Chromosome 19 affects gene LONP1 (lon peptidase 1, mitochondrial). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; CODAS syndrome | GTGGGTGGGTGTGGGTGTGTCGGGGGCCCGCAGTCCCCTGTCTGGTGCCCGCTCTGAGCCACACCCTCTCCGGGTGCTGCCTGGTCGTGAATCAAAAGCCGTGGCCCGCCCACCCTTCCCGGGGCAGCAGGTGAGGAAGCCGCCGTACTGCAAATGACTTTAATCATTAAATAGCTTCTATGCCACACTCTGATTAAGCCGACTGAGGTCCCTGGGATCTGGGTCACTGGACCGAGCTGCTCGCTCGGTGGCTCCACTGCCAGGTCCGGGCGCGCTCCCCACAGCGCTCAGTTCTGGCCCAGACAGGGCCTGACATCCGC... | GTGGGTGGGTGTGGGTGTGTCGGGGGCCCGCAGTCCCCTGTCTGGTGCCCGCTCTGAGCCACACCCTCTCCGGGTGCTGCCTGGTCGTGAATCAAAAGCCGTGGCCCGCCCACCCTTCCCGGGGCAGCAGGTGAGGAAGCCGCCGTACTGCAAATGACTTTAATCATTAAATAGCTTCTATGCCACACTCTGATTAAGCCGACTGAGGTCCCTGGGATCTGGGTCACTGGACCGAGCTGCTCGCTCGGTGGCTCCACTGCCAGGTCCGGGCGCGCTCCCCACAGCGCTCAGTTCTGGCCCAGACAGGGCCTGACATCCGC... |
Task1_train_26329 | This alteration in LONP1 (lon peptidase 1, mitochondrial) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; CODAS syndrome | CTCTGGATGAGCCACACACCCACGGCCTCACATCCAGAGGTCAGGCAGTGTCTGGGGCCTGAACAGGGTTCCTGTGAGCATCTGCATCTCTGCCCCCAGGCCCTGCGTCACCCCCCTCACCTCCGGAGGCTACACATATCTGGAGTAGATGCCAGGCACAGCCCCACCACAGCCCCTTGAAAGGACAGCAGTTCCCACTGTCACCGCACACTGACTCCATGGACAGTGAGCCTCCCAATTTGCCTCCACCATTTTATCATCTAGGAAGTCTGTGCCTGGTGTCCAATTCAAGGTGGTCACAGCCACTTGACCATGCCTCC... | CTCTGGATGAGCCACACACCCACGGCCTCACATCCAGAGGTCAGGCAGTGTCTGGGGCCTGAACAGGGTTCCTGTGAGCATCTGCATCTCTGCCCCCAGGCCCTGCGTCACCCCCCTCACCTCCGGAGGCTACACATATCTGGAGTAGATGCCAGGCACAGCCCCACCACAGCCCCTTGAAAGGACAGCAGTTCCCACTGTCACCGCACACTGACTCCATGGACAGTGAGCCTCCCAATTTGCCTCCACCATTTTATCATCTAGGAAGTCTGTGCCTGGTGTCCAATTCAAGGTGGTCACAGCCACTTGACCATGCCTCC... |
Task1_train_26330 | The gene LONP1 (lon peptidase 1, mitochondrial) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; CODAS syndrome | CCCATGTGTCACAGCCTTCCCCTCCCTCAGCCCAGACCCCCTGGGCTCCCAGCACACCACCCCCCGCCAGAGGCCGTTCAGAGCCACCTGAGGCCCACTGCACAGGTGTACAAGGTGGGACCTGCTTGTTCTCGGGTAGAAATGGGAATGGCTTTGGGGTCTTCTCCCGCCACCACGCTCACCCATTGCGGTCCAGGCCAGCCCCATGACCACGCCGGGCGGTGTCACGTCATACATGCGCTCCACGGTGAACACGGGCTTCCCCACGAAGTCCTGCAGGTTCTCGGGCGTCACCTCCACGGACTCGGCCTCGCCGCTGA... | CCCATGTGTCACAGCCTTCCCCTCCCTCAGCCCAGACCCCCTGGGCTCCCAGCACACCACCCCCCGCCAGAGGCCGTTCAGAGCCACCTGAGGCCCACTGCACAGGTGTACAAGGTGGGACCTGCTTGTTCTCGGGTAGAAATGGGAATGGCTTTGGGGTCTTCTCCCGCCACCACGCTCACCCATTGCGGTCCAGGCCAGCCCCATGACCACGCCGGGCGGTGTCACGTCATACATGCGCTCCACGGTGAACACGGGCTTCCCCACGAAGTCCTGCAGGTTCTCGGGCGTCACCTCCACGGACTCGGCCTCGCCGCTGA... |
Task1_train_26331 | Gene CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Perrault syndrome 3 | TGTTATCGCACAGCTCCTCTTCCTGCAATCCGAGAGCAACAAGAAGCCCATCCACATGTACATCAACAGCCCTGGTGAGCAGGGTCTTTCCTGGGTGCCAGGGGCACTCGTCAGGGCACACGGGTGACTCAGGGGACCAGAATCCCGGGTCAGGGATGTTCTCTCTCTGGGAAAGGGTGCAGAGCGTCAGAGTTCCAGAAGTGGCTTTAAACCACCAAAAGGTGCCTGTTGCTGGCTTTTGAGCCTCGGTTCACAAGTCAGGATGTGGCCTCTTTGATCCTGCACATACTGTTCTGCCAACCTGACCCGGCTGACATTTA... | TGTTATCGCACAGCTCCTCTTCCTGCAATCCGAGAGCAACAAGAAGCCCATCCACATGTACATCAACAGCCCTGGTGAGCAGGGTCTTTCCTGGGTGCCAGGGGCACTCGTCAGGGCACACGGGTGACTCAGGGGACCAGAATCCCGGGTCAGGGATGTTCTCTCTCTGGGAAAGGGTGCAGAGCGTCAGAGTTCCAGAAGTGGCTTTAAACCACCAAAAGGTGCCTGTTGCTGGCTTTTGAGCCTCGGTTCACAAGTCAGGATGTGGCCTCTTTGATCCTGCACATACTGTTCTGCCAACCTGACCCGGCTGACATTTA... |
Task1_train_26332 | A variant found in Chromosome 19 affects CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Perrault syndrome 3 | GCACAGCTCCTCTTCCTGCAATCCGAGAGCAACAAGAAGCCCATCCACATGTACATCAACAGCCCTGGTGAGCAGGGTCTTTCCTGGGTGCCAGGGGCACTCGTCAGGGCACACGGGTGACTCAGGGGACCAGAATCCCGGGTCAGGGATGTTCTCTCTCTGGGAAAGGGTGCAGAGCGTCAGAGTTCCAGAAGTGGCTTTAAACCACCAAAAGGTGCCTGTTGCTGGCTTTTGAGCCTCGGTTCACAAGTCAGGATGTGGCCTCTTTGATCCTGCACATACTGTTCTGCCAACCTGACCCGGCTGACATTTAAAAATTG... | GCACAGCTCCTCTTCCTGCAATCCGAGAGCAACAAGAAGCCCATCCACATGTACATCAACAGCCCTGGTGAGCAGGGTCTTTCCTGGGTGCCAGGGGCACTCGTCAGGGCACACGGGTGACTCAGGGGACCAGAATCCCGGGTCAGGGATGTTCTCTCTCTGGGAAAGGGTGCAGAGCGTCAGAGTTCCAGAAGTGGCTTTAAACCACCAAAAGGTGCCTGTTGCTGGCTTTTGAGCCTCGGTTCACAAGTCAGGATGTGGCCTCTTTGATCCTGCACATACTGTTCTGCCAACCTGACCCGGCTGACATTTAAAAATTG... |
Task1_train_26333 | Here is a genetic alteration in CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Perrault syndrome 3 | CCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACAGCGCCCAGTCATATTAATTTTTAAAAAAGGAGGGGGGCTGCATCTGTTCCACCCTCCCCAGGTTTAGGAGATGGAATAGGGAAAGGGTCGGGGGGAGCTGGTCCAGCCCCTCACTTGCTCCCCCGCCCACAGGTGGTGTGGTGACCGCGGGCCTGGCCATCTACGACACGATGCAGTACATCCTCAACCCGATCTGCACCTGGTGCGTGGGCCAGGCCGCCAGCATGGGCTCCCTGCTTCTCGCCGCCGGCACCCCAGGCATGCGCCACTCGCTCCCC... | CCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACAGCGCCCAGTCATATTAATTTTTAAAAAAGGAGGGGGGCTGCATCTGTTCCACCCTCCCCAGGTTTAGGAGATGGAATAGGGAAAGGGTCGGGGGGAGCTGGTCCAGCCCCTCACTTGCTCCCCCGCCCACAGGTGGTGTGGTGACCGCGGGCCTGGCCATCTACGACACGATGCAGTACATCCTCAACCCGATCTGCACCTGGTGCGTGGGCCAGGCCGCCAGCATGGGCTCCCTGCTTCTCGCCGCCGGCACCCCAGGCATGCGCCACTCGCTCCCC... |
Task1_train_26334 | A mutation on Chromosome 19 affecting TUBB4A (tubulin beta 4A class IVa) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hypomyelinating leukodystrophy 6 | TCTAGCATATCATCAAGAAAAAACCATAAAAATGGGCAACCAGTGGCTCTCATCTGTGGAGTAGCCATTCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGATACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTGACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGAACTATAGGCGCCTGCCACCACGCCCAGGTAATTTTTGCATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGTCAGGCTGGTCTCTCCTGGCCTCAGGTGATC... | TCTAGCATATCATCAAGAAAAAACCATAAAAATGGGCAACCAGTGGCTCTCATCTGTGGAGTAGCCATTCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGATACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTGACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGAACTATAGGCGCCTGCCACCACGCCCAGGTAATTTTTGCATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGTCAGGCTGGTCTCTCCTGGCCTCAGGTGATC... |
Task1_train_26335 | Mutation context: Chromosome 19, Gene TUBB4A (tubulin beta 4A class IVa). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hypomyelinating leukodystrophy 6 | ATCATCAAGAAAAAACCATAAAAATGGGCAACCAGTGGCTCTCATCTGTGGAGTAGCCATTCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGATACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTGACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGAACTATAGGCGCCTGCCACCACGCCCAGGTAATTTTTGCATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGTCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCCACC... | ATCATCAAGAAAAAACCATAAAAATGGGCAACCAGTGGCTCTCATCTGTGGAGTAGCCATTCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGATACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTGACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGAACTATAGGCGCCTGCCACCACGCCCAGGTAATTTTTGCATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGTCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCCACC... |
Task1_train_26336 | The gene TUBB4A (tubulin beta 4A class IVa), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | AGCCACTGCACCTGGCTCCTTTATTTATTTATTTAATTATTATTATTTTTTGAGACGGAGTGTCACTCTGTTGCCAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGC... | AGCCACTGCACCTGGCTCCTTTATTTATTTATTTAATTATTATTATTTTTTGAGACGGAGTGTCACTCTGTTGCCAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGC... |
Task1_train_26337 | A mutation in TUBB4A (tubulin beta 4A class IVa), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hypomyelinating leukodystrophy 6 | ATTTATTTAATTATTATTATTTTTTGAGACGGAGTGTCACTCTGTTGCCAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAAC... | ATTTATTTAATTATTATTATTTTTTGAGACGGAGTGTCACTCTGTTGCCAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAAC... |
Task1_train_26338 | A variant on Chromosome 19 in gene TUBB4A (tubulin beta 4A class IVa) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Inborn genetic diseases | ATTTATTTAATTATTATTATTTTTTGAGACGGAGTGTCACTCTGTTGCCAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAAC... | ATTTATTTAATTATTATTATTTTTTGAGACGGAGTGTCACTCTGTTGCCAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAAC... |
Task1_train_26339 | A variant was discovered on Chromosome 19, affecting TUBB4A (tubulin beta 4A class IVa). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hypomyelinating leukodystrophy 6 | CAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAG... | CAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAG... |
Task1_train_26340 | Here is a mutation in TUBB4A (tubulin beta 4A class IVa) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hypomyelinating leukodystrophy 6 | GTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTC... | GTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTC... |
Task1_train_26341 | Consider this mutation in TUBB4A (tubulin beta 4A class IVa) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Hypomyelinating leukodystrophy 6 | GCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTG... | GCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTG... |
Task1_train_26342 | A genomic change on Chromosome 19 affects TUBB4A (tubulin beta 4A class IVa). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | CCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATG... | CCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATG... |
Task1_train_26343 | A variant affecting Chromosome 19, within the gene TUBB4A (tubulin beta 4A class IVa), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Torsion dystonia 4 | TCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAG... | TCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAG... |
Task1_train_26344 | Here is a variant affecting TUBB4A (tubulin beta 4A class IVa) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hypomyelinating leukodystrophy 6 | TCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAG... | TCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAG... |
Task1_train_26345 | This sequence variant lies in LOC130063295, TUBB4A (ATAC-STARR-seq lymphoblastoid silent region 9955| tubulin beta 4A class IVa) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hypomyelinating leukodystrophy 6 | ACACCATCGCTCAGGCTGGAGTGCAGTGGCACCATCATAGCTCATGGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCTACCTTAGCCTCACGAGTAGCTGTGACTACAGGTGCACACCACCTCACTCAGCTAATTAAAATTTTTTTCTTTTTGTAGAGACAGGGTCTCACCATGGTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCTCTCTTCCTGACTCAGCCTCCCAAAGTCCTGGGTTTATAGGCATGAACCACCATGCCCAGTGAAATCCCTGTTTTAAAGACGAGGAGGCCGGGCAAGGTGGCTCATGC... | ACACCATCGCTCAGGCTGGAGTGCAGTGGCACCATCATAGCTCATGGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCTACCTTAGCCTCACGAGTAGCTGTGACTACAGGTGCACACCACCTCACTCAGCTAATTAAAATTTTTTTCTTTTTGTAGAGACAGGGTCTCACCATGGTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCTCTCTTCCTGACTCAGCCTCCCAAAGTCCTGGGTTTATAGGCATGAACCACCATGCCCAGTGAAATCCCTGTTTTAAAGACGAGGAGGCCGGGCAAGGTGGCTCATGC... |
Task1_train_26346 | Given a variant located on Chromosome 19 and affecting LOC130063295, TUBB4A (ATAC-STARR-seq lymphoblastoid silent region 9955| tubulin beta 4A class IVa), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | CACCATCGCTCAGGCTGGAGTGCAGTGGCACCATCATAGCTCATGGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCTACCTTAGCCTCACGAGTAGCTGTGACTACAGGTGCACACCACCTCACTCAGCTAATTAAAATTTTTTTCTTTTTGTAGAGACAGGGTCTCACCATGGTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCTCTCTTCCTGACTCAGCCTCCCAAAGTCCTGGGTTTATAGGCATGAACCACCATGCCCAGTGAAATCCCTGTTTTAAAGACGAGGAGGCCGGGCAAGGTGGCTCATGCT... | CACCATCGCTCAGGCTGGAGTGCAGTGGCACCATCATAGCTCATGGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCTACCTTAGCCTCACGAGTAGCTGTGACTACAGGTGCACACCACCTCACTCAGCTAATTAAAATTTTTTTCTTTTTGTAGAGACAGGGTCTCACCATGGTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCTCTCTTCCTGACTCAGCCTCCCAAAGTCCTGGGTTTATAGGCATGAACCACCATGCCCAGTGAAATCCCTGTTTTAAAGACGAGGAGGCCGGGCAAGGTGGCTCATGCT... |
Task1_train_26347 | A variant found in Chromosome 19 affects LOC130063295, TUBB4A (ATAC-STARR-seq lymphoblastoid silent region 9955| tubulin beta 4A class IVa). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Torsion dystonia 4 | CACCATCGCTCAGGCTGGAGTGCAGTGGCACCATCATAGCTCATGGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCTACCTTAGCCTCACGAGTAGCTGTGACTACAGGTGCACACCACCTCACTCAGCTAATTAAAATTTTTTTCTTTTTGTAGAGACAGGGTCTCACCATGGTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCTCTCTTCCTGACTCAGCCTCCCAAAGTCCTGGGTTTATAGGCATGAACCACCATGCCCAGTGAAATCCCTGTTTTAAAGACGAGGAGGCCGGGCAAGGTGGCTCATGCT... | CACCATCGCTCAGGCTGGAGTGCAGTGGCACCATCATAGCTCATGGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCTACCTTAGCCTCACGAGTAGCTGTGACTACAGGTGCACACCACCTCACTCAGCTAATTAAAATTTTTTTCTTTTTGTAGAGACAGGGTCTCACCATGGTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCTCTCTTCCTGACTCAGCCTCCCAAAGTCCTGGGTTTATAGGCATGAACCACCATGCCCAGTGAAATCCCTGTTTTAAAGACGAGGAGGCCGGGCAAGGTGGCTCATGCT... |
Task1_train_26348 | A variant has been detected on Chromosome 19 in C3 (complement C3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Atypical hemolytic-uremic syndrome | ACCTCCACCTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCATCTTGAGTAGTTGGGATTACAGCACACTCTTGACCCCAGGAGTCTGGTTTCACAGCCTGTGCTATACTCTGCTACAATGTTGCTATGTTGTAGCAGAAACAAATCTCTTTTATTCCTGCCCATTTGCCTCTCTGACATCCACTCCTTTTGTAAGAACTTCTTCTCCCTTCCATTCACGTGGCCACAGTGGAAACAGCCATGTCTGCCCCCTGAGACCTACTTCCTGTCCTTAGCTGATTGGTCCAGATATAGTCATCTGACCCAGGCTGAGCCAATCAG... | ACCTCCACCTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCATCTTGAGTAGTTGGGATTACAGCACACTCTTGACCCCAGGAGTCTGGTTTCACAGCCTGTGCTATACTCTGCTACAATGTTGCTATGTTGTAGCAGAAACAAATCTCTTTTATTCCTGCCCATTTGCCTCTCTGACATCCACTCCTTTTGTAAGAACTTCTTCTCCCTTCCATTCACGTGGCCACAGTGGAAACAGCCATGTCTGCCCCCTGAGACCTACTTCCTGTCCTTAGCTGATTGGTCCAGATATAGTCATCTGACCCAGGCTGAGCCAATCAG... |
Task1_train_26349 | This variant lies on Chromosome 19 and affects the gene C3 (complement C3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Atypical hemolytic-uremic syndrome with C3 anomaly | TCAATCCCTAAATCTAGATAATTTTTACATTTTTTTTGTAGAGATGTAGTCTCCCTAGCTTTCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAGTCTTCCCACCTCTGCCTCCCGAAATGTTGGAATTACAGGCTTGAGCCATTGCATTTGCCCCAATTATTTTTTGAGACAGGGTCTCACTCTGCCACCCAGGCTGGAGTGCAGTGGTGCGATCACGGCTCACTGCAGCCTGGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGGGGTAGCTGCAACCACAAGCAAGCACCACCACACACAGCTGTTT... | TCAATCCCTAAATCTAGATAATTTTTACATTTTTTTTGTAGAGATGTAGTCTCCCTAGCTTTCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAGTCTTCCCACCTCTGCCTCCCGAAATGTTGGAATTACAGGCTTGAGCCATTGCATTTGCCCCAATTATTTTTTGAGACAGGGTCTCACTCTGCCACCCAGGCTGGAGTGCAGTGGTGCGATCACGGCTCACTGCAGCCTGGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGGGGTAGCTGCAACCACAAGCAAGCACCACCACACACAGCTGTTT... |
Task1_train_26350 | Here is a variant affecting INSR (insulin receptor) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Insulin-resistant diabetes mellitus AND acanthosis nigricans | GCTCACATCAGATGCTGGCTGTGTGTGTGGACAATTGTCAAGGCAGAAATAGCATTGCTAGAGGTGCTGAGAGATGGTGTTTTCTTTTTGCTTTTCTTCTTCTTATTTTGGACACAGCGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTGCAGCCTCTGCCTCCTAGGCTCGAGCAATCCTCTCACCTTGGCCTCCCAAGTAGCTGGGACCACAGGTGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTTGCAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGGCCTCAAACTCCT... | GCTCACATCAGATGCTGGCTGTGTGTGTGGACAATTGTCAAGGCAGAAATAGCATTGCTAGAGGTGCTGAGAGATGGTGTTTTCTTTTTGCTTTTCTTCTTCTTATTTTGGACACAGCGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTGCAGCCTCTGCCTCCTAGGCTCGAGCAATCCTCTCACCTTGGCCTCCCAAGTAGCTGGGACCACAGGTGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTTGCAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGGCCTCAAACTCCT... |
Task1_train_26351 | Here is a genetic alteration in INSR (insulin receptor) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | ATTTTAAGTGTATAAAGAATTAACAGGCGGCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCATTTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCGCGGTGGTGGGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAAGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGAAGTCAGCCGAGCTCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTAACAGGC... | ATTTTAAGTGTATAAAGAATTAACAGGCGGCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCATTTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCGCGGTGGTGGGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAAGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGAAGTCAGCCGAGCTCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTAACAGGC... |
Task1_train_26352 | The gene INSR (insulin receptor) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Insulin resistance | TTTTAAGTGTATAAAGAATTAACAGGCGGCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCATTTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCGCGGTGGTGGGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAAGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGAAGTCAGCCGAGCTCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTAACAGGCA... | TTTTAAGTGTATAAAGAATTAACAGGCGGCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCATTTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCGCGGTGGTGGGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAAGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGAAGTCAGCCGAGCTCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTAACAGGCA... |
Task1_train_26353 | Consider this mutation in INSR (insulin receptor) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Type 2 diabetes mellitus | CTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCATTTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCGCGGTGGTGGGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAAGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGAAGTCAGCCGAGCTCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTAACAGGCAAACAGGTCTCTCTCCCCCAACCCCAGGTC... | CTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCATTTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCGCGGTGGTGGGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAAGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGAAGTCAGCCGAGCTCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTAACAGGCAAACAGGTCTCTCTCCCCCAACCCCAGGTC... |
Task1_train_26354 | Mutation context: Chromosome 19, Gene INSR (insulin receptor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Insulin-resistant diabetes mellitus AND acanthosis nigricans | CACAACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACCGTACAGGGAGCAGACCCTTGCCCCCTTTCCGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGA... | CACAACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACCGTACAGGGAGCAGACCCTTGCCCCCTTTCCGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGA... |
Task1_train_26355 | This sequence variant lies in INSR (insulin receptor) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Insulin-resistant diabetes mellitus AND acanthosis nigricans | ACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACCGTACAGGGAGCAGACCCTTGCCCCCTTTCCGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGAAGGG... | ACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACCGTACAGGGAGCAGACCCTTGCCCCCTTTCCGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGAAGGG... |
Task1_train_26356 | This sequence change occurs on Chromosome 19, altering INSR (insulin receptor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Insulin resistance | ACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACCGTACAGGGAGCAGACCCTTGCCCCCTTTCCGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGAAGGG... | ACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACCGTACAGGGAGCAGACCCTTGCCCCCTTTCCGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGAAGGG... |
Task1_train_26357 | The variant affects gene INSR (insulin receptor), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Insulin-resistant diabetes mellitus AND acanthosis nigricans | GAACTCCTGACCTCTGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGCCACTGCACCCAGCCAGGCCTTTGTATTTTAATCATTCCCTCTGCCTGGCTCTCTGTTCCCTGCCACATCCACAGGGCCCAGCTCCTCATGTCCTCTAAGTCTTTGCTCAAATACACCCCTGTCCAACCCTCCTTTCCTCCCTTTCTTCATGTTTCCATAGCATTTGCTCCTAATGTATAAAGGGTTTGGAGTCAGCTGGGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGTGGATCACCTGA... | GAACTCCTGACCTCTGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGCCACTGCACCCAGCCAGGCCTTTGTATTTTAATCATTCCCTCTGCCTGGCTCTCTGTTCCCTGCCACATCCACAGGGCCCAGCTCCTCATGTCCTCTAAGTCTTTGCTCAAATACACCCCTGTCCAACCCTCCTTTCCTCCCTTTCTTCATGTTTCCATAGCATTTGCTCCTAATGTATAAAGGGTTTGGAGTCAGCTGGGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGTGGATCACCTGA... |
Task1_train_26358 | A genetic alteration is present in INSR (insulin receptor) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Insulin-resistant diabetes mellitus AND acanthosis nigricans | GAAAGTAACTTATAAGGTTTTTGTTGTTGCTGTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGCGCAATGGTGCAATCTCTGCTCACTGCAACCTCCACCTCCTGGCTTCAAGTGATTCTCCTGCCTCAGCTTCCCACCTTGGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACGCCTGGCTAATTTTTGTATTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTTGGATTACAGGTGTGAGCCAC... | GAAAGTAACTTATAAGGTTTTTGTTGTTGCTGTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGCGCAATGGTGCAATCTCTGCTCACTGCAACCTCCACCTCCTGGCTTCAAGTGATTCTCCTGCCTCAGCTTCCCACCTTGGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACGCCTGGCTAATTTTTGTATTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTTGGATTACAGGTGTGAGCCAC... |
Task1_train_26359 | A genetic alteration is present in INSR (insulin receptor) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; INSR-related disorder | GAGTTTAGAGACCCTGCAGATCATTAGACATCGGAGAGACGCATCTAAGTAATTCTCTCTGCCTAGAAGACAAACCCTCTCCTAAACCTCACCCCAACCTCGCTCTCTCTCCTTGCACTACATTTTTTTTGAGACAGTCTTGCTCTGTCACCAAGGCTGGAGTGCAGTCCACCTACCGGGTTTAAGCAATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCCACCACCACGTCCAGCTAGTTTTTGTATTTTTTTTTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTG... | GAGTTTAGAGACCCTGCAGATCATTAGACATCGGAGAGACGCATCTAAGTAATTCTCTCTGCCTAGAAGACAAACCCTCTCCTAAACCTCACCCCAACCTCGCTCTCTCTCCTTGCACTACATTTTTTTTGAGACAGTCTTGCTCTGTCACCAAGGCTGGAGTGCAGTCCACCTACCGGGTTTAAGCAATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCCACCACCACGTCCAGCTAGTTTTTGTATTTTTTTTTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTG... |
Task1_train_26360 | The gene INSR (insulin receptor) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Leprechaunism syndrome | GAGTTTAGAGACCCTGCAGATCATTAGACATCGGAGAGACGCATCTAAGTAATTCTCTCTGCCTAGAAGACAAACCCTCTCCTAAACCTCACCCCAACCTCGCTCTCTCTCCTTGCACTACATTTTTTTTGAGACAGTCTTGCTCTGTCACCAAGGCTGGAGTGCAGTCCACCTACCGGGTTTAAGCAATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCCACCACCACGTCCAGCTAGTTTTTGTATTTTTTTTTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTG... | GAGTTTAGAGACCCTGCAGATCATTAGACATCGGAGAGACGCATCTAAGTAATTCTCTCTGCCTAGAAGACAAACCCTCTCCTAAACCTCACCCCAACCTCGCTCTCTCTCCTTGCACTACATTTTTTTTGAGACAGTCTTGCTCTGTCACCAAGGCTGGAGTGCAGTCCACCTACCGGGTTTAAGCAATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCCACCACCACGTCCAGCTAGTTTTTGTATTTTTTTTTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTG... |
Task1_train_26361 | An alteration has been detected in INSR (insulin receptor) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Leprechaunism syndrome | CTCACCCCAACCTCGCTCTCTCTCCTTGCACTACATTTTTTTTGAGACAGTCTTGCTCTGTCACCAAGGCTGGAGTGCAGTCCACCTACCGGGTTTAAGCAATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCCACCACCACGTCCAGCTAGTTTTTGTATTTTTTTTTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTCCAGGCGTGAGCCACCATGCCCAGCCCTTGCACTACATTTTG... | CTCACCCCAACCTCGCTCTCTCTCCTTGCACTACATTTTTTTTGAGACAGTCTTGCTCTGTCACCAAGGCTGGAGTGCAGTCCACCTACCGGGTTTAAGCAATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCCACCACCACGTCCAGCTAGTTTTTGTATTTTTTTTTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTCCAGGCGTGAGCCACCATGCCCAGCCCTTGCACTACATTTTG... |
Task1_train_26362 | This variant lies on Chromosome 19 and affects the gene INSR (insulin receptor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Leprechaunism syndrome | TCTGTCACCAAGGCTGGAGTGCAGTCCACCTACCGGGTTTAAGCAATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCCACCACCACGTCCAGCTAGTTTTTGTATTTTTTTTTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTCCAGGCGTGAGCCACCATGCCCAGCCCTTGCACTACATTTTGACATAAGTAACTAACTCCCCATGAAGGTATCCCAGAAGCCCTTGGCAGCTCACTGT... | TCTGTCACCAAGGCTGGAGTGCAGTCCACCTACCGGGTTTAAGCAATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCCACCACCACGTCCAGCTAGTTTTTGTATTTTTTTTTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTCCAGGCGTGAGCCACCATGCCCAGCCCTTGCACTACATTTTGACATAAGTAACTAACTCCCCATGAAGGTATCCCAGAAGCCCTTGGCAGCTCACTGT... |
Task1_train_26363 | The gene INSR (insulin receptor) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Insulin-resistant diabetes mellitus | CCATCACCCCCAGCTGGGACCATCTAGTTGCAGGAACACAAGCTCAGGGTTCCCATTGATTCTACATGATGGTGAGTTGTACAATTCTTTCATTATATATTACAATGTAATCATAATAGGAATAAAGTGCATAGTAAATGTAATGCACTTGAATCATGCTGAAACCATCCCCACCCACCACCAGTCCATGGAAAAACCATCTTCCACTACACCGGTCCCTCATGCCAAAAAGGTTGGGGACCAGTGACTTACAGGATGCCTGGTCCCCATTGGTCTTCAGGGCAATGTCGTTTCTCTCCTGGCGCCCCTTGGTTCCTGAA... | CCATCACCCCCAGCTGGGACCATCTAGTTGCAGGAACACAAGCTCAGGGTTCCCATTGATTCTACATGATGGTGAGTTGTACAATTCTTTCATTATATATTACAATGTAATCATAATAGGAATAAAGTGCATAGTAAATGTAATGCACTTGAATCATGCTGAAACCATCCCCACCCACCACCAGTCCATGGAAAAACCATCTTCCACTACACCGGTCCCTCATGCCAAAAAGGTTGGGGACCAGTGACTTACAGGATGCCTGGTCCCCATTGGTCTTCAGGGCAATGTCGTTTCTCTCCTGGCGCCCCTTGGTTCCTGAA... |
Task1_train_26364 | Mutation context: Chromosome 19, Gene INSR (insulin receptor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Leprechaunism syndrome | GTTCCCATTGATTCTACATGATGGTGAGTTGTACAATTCTTTCATTATATATTACAATGTAATCATAATAGGAATAAAGTGCATAGTAAATGTAATGCACTTGAATCATGCTGAAACCATCCCCACCCACCACCAGTCCATGGAAAAACCATCTTCCACTACACCGGTCCCTCATGCCAAAAAGGTTGGGGACCAGTGACTTACAGGATGCCTGGTCCCCATTGGTCTTCAGGGCAATGTCGTTTCTCTCCTGGCGCCCCTTGGTTCCTGAAACTTCTTCCATCTTGTGGATTTCTGACAAGCAGAGTTTGGGGTTATAG... | GTTCCCATTGATTCTACATGATGGTGAGTTGTACAATTCTTTCATTATATATTACAATGTAATCATAATAGGAATAAAGTGCATAGTAAATGTAATGCACTTGAATCATGCTGAAACCATCCCCACCCACCACCAGTCCATGGAAAAACCATCTTCCACTACACCGGTCCCTCATGCCAAAAAGGTTGGGGACCAGTGACTTACAGGATGCCTGGTCCCCATTGGTCTTCAGGGCAATGTCGTTTCTCTCCTGGCGCCCCTTGGTTCCTGAAACTTCTTCCATCTTGTGGATTTCTGACAAGCAGAGTTTGGGGTTATAG... |
Task1_train_26365 | This sequence change occurs on Chromosome 19, altering INSR (insulin receptor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Leprechaunism syndrome | AGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCTCTGTCTCAAAATAAATAAATTAATTAATTAAAAGCTTCAGAAATAAAAATATTAATTTTTTTAAACCTACGCAATAAAATACGGTGACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATG... | AGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCTCTGTCTCAAAATAAATAAATTAATTAATTAAAAGCTTCAGAAATAAAAATATTAATTTTTTTAAACCTACGCAATAAAATACGGTGACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATG... |
Task1_train_26366 | Here’s a variant in INSR (insulin receptor) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Leprechaunism syndrome | AAAAGCTTCAGAAATAAAAATATTAATTTTTTTAAACCTACGCAATAAAATACGGTGACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAA... | AAAAGCTTCAGAAATAAAAATATTAATTTTTTTAAACCTACGCAATAAAATACGGTGACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAA... |
Task1_train_26367 | A variant was discovered on Chromosome 19, affecting INSR (insulin receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Leprechaunism syndrome | AGGTAGATTTCTATAATCAACAGCTGTCTGAGGCCCCCAGTTAGCTATTTGGGAGAGAAACGAAACGCCCGTTGAGTCACACACACAAACAGATCTCAAGTAGTGAGGATGAATTTTTTTAGATAATAATAATTAAAATATAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGAGTTCGAGACCAGCCTGGTCAACGTAGTGAAATCTCGTCTCTACTAACAATACAAAAATTAGCTGGGCTTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTG... | AGGTAGATTTCTATAATCAACAGCTGTCTGAGGCCCCCAGTTAGCTATTTGGGAGAGAAACGAAACGCCCGTTGAGTCACACACACAAACAGATCTCAAGTAGTGAGGATGAATTTTTTTAGATAATAATAATTAAAATATAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGAGTTCGAGACCAGCCTGGTCAACGTAGTGAAATCTCGTCTCTACTAACAATACAAAAATTAGCTGGGCTTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTG... |
Task1_train_26368 | Gene INSR (insulin receptor) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Leprechaunism syndrome | TGGGTGGATCACCTGAGAGTTCGAGACCAGCCTGGTCAACGTAGTGAAATCTCGTCTCTACTAACAATACAAAAATTAGCTGGGCTTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAACCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATCGCACTCCAGTCTTAACAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTAAAATATAAAATGTAGAGAAAAAAAACCTTTCATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCAC... | TGGGTGGATCACCTGAGAGTTCGAGACCAGCCTGGTCAACGTAGTGAAATCTCGTCTCTACTAACAATACAAAAATTAGCTGGGCTTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAACCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATCGCACTCCAGTCTTAACAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTAAAATATAAAATGTAGAGAAAAAAAACCTTTCATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCAC... |
Task1_train_26369 | Consider this mutation in INSR (insulin receptor) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Rabson-Mendenhall syndrome | TGAAATCTCGTCTCTACTAACAATACAAAAATTAGCTGGGCTTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAACCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATCGCACTCCAGTCTTAACAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTAAAATATAAAATGTAGAGAAAAAAAACCTTTCATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCC... | TGAAATCTCGTCTCTACTAACAATACAAAAATTAGCTGGGCTTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAACCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATCGCACTCCAGTCTTAACAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTAAAATATAAAATGTAGAGAAAAAAAACCTTTCATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCC... |
Task1_train_26370 | This genomic variant is located on Chromosome 19, within the INSR (insulin receptor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Leprechaunism syndrome | TGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAACCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATCGCACTCCAGTCTTAACAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTAAAATATAAAATGTAGAGAAAAAAAACCTTTCATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCA... | TGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAACCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATCGCACTCCAGTCTTAACAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTAAAATATAAAATGTAGAGAAAAAAAACCTTTCATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCA... |
Task1_train_26371 | An alteration has been detected in INSR (insulin receptor) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Leprechaunism syndrome | AAACCTTTCATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAA... | AAACCTTTCATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAA... |
Task1_train_26372 | Here is a genetic alteration in INSR (insulin receptor) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Leprechaunism syndrome | CATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAAAGAAATGC... | CATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAAAGAAATGC... |
Task1_train_26373 | A variant was discovered on Chromosome 19, affecting INSR (insulin receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Rabson-Mendenhall syndrome | AGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAAAGAAATGCAAATAGAAACAATGACAACACGTCAGCTCCTCCCTCCC... | AGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAAAGAAATGCAAATAGAAACAATGACAACACGTCAGCTCCTCCCTCCC... |
Task1_train_26374 | Given this context: Chromosome 19, gene PNPLA6 (patatin like domain 6, lysophospholipase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not specified | CCACGATTAGCAGAGGGGCTATCTGGATTCTCCACTTATAATGAGGGCTACTTCAGGGACCTCTGTGGCTGTCAGAGGGGCTGTCTCAAGGTTCTCTGAGACTGGGAGGAAGGTCTATCTCAGGAATGTTTATGTAGAACAGAGAGACTGTATCTGCGGTCTTCTCATATATTGGAAGCTATGTCAAAGGCATACTCACGTTAAGGGGACTATCTCAGGAATCTACTCTGTGACTACTGGAAGGACCGTTTCAGGACCCCCATGATAAACACAGGTACCATTTCTGGGCCTACCCTTATCTTGGAAGCTATGTCAGGGGT... | CCACGATTAGCAGAGGGGCTATCTGGATTCTCCACTTATAATGAGGGCTACTTCAGGGACCTCTGTGGCTGTCAGAGGGGCTGTCTCAAGGTTCTCTGAGACTGGGAGGAAGGTCTATCTCAGGAATGTTTATGTAGAACAGAGAGACTGTATCTGCGGTCTTCTCATATATTGGAAGCTATGTCAAAGGCATACTCACGTTAAGGGGACTATCTCAGGAATCTACTCTGTGACTACTGGAAGGACCGTTTCAGGACCCCCATGATAAACACAGGTACCATTTCTGGGCCTACCCTTATCTTGGAAGCTATGTCAGGGGT... |
Task1_train_26375 | A variant was discovered in gene PNPLA6 (patatin like domain 6, lysophospholipase), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hereditary spastic paraplegia 39 | CATCCGTTATGCTGCCGATGGCCCCTCACGGGACTGGCGCCAGGAAGGATTAGGGGAGTAGCGAGGGGGACTCGCAGCCTCTGCCCTTGTCTCTCTTCACGCCCTCCCCTCCCCCAGGGTCACCAGCATCCCCAGCGGACCGTGTCTGCCCGGGCGGCCCGGGACTCCACGGTGCTGCGCCTGCCGGTGGAAGCATTCTCCGCGGTCTTCACCAAGTACCCGGAGAGCTTGGTGCGGGTCGTGCAGGTCAGTGGGCCTTCGCCTCCTGTCACCCCCTGAGGGACCCCACCCTGGCCCCCACCCATTCCAGGCTCCAAGGG... | CATCCGTTATGCTGCCGATGGCCCCTCACGGGACTGGCGCCAGGAAGGATTAGGGGAGTAGCGAGGGGGACTCGCAGCCTCTGCCCTTGTCTCTCTTCACGCCCTCCCCTCCCCCAGGGTCACCAGCATCCCCAGCGGACCGTGTCTGCCCGGGCGGCCCGGGACTCCACGGTGCTGCGCCTGCCGGTGGAAGCATTCTCCGCGGTCTTCACCAAGTACCCGGAGAGCTTGGTGCGGGTCGTGCAGGTCAGTGGGCCTTCGCCTCCTGTCACCCCCTGAGGGACCCCACCCTGGCCCCCACCCATTCCAGGCTCCAAGGG... |
Task1_train_26376 | The gene PNPLA6 (patatin like domain 6, lysophospholipase) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Ataxia-hypogonadism-choroidal dystrophy syndrome | ACCCAGCCCCTTCAGTATACTTTAAATCAGGGGTGTCCAATCTTTTGGCTTCCCTGGGCCACATTGGAAGAATTGTCTTGGACCACACATAAAATACACTAACAGTTATAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCGGTTGGATCACTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGTGGCAGGCACCTTTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTCTGGAGG... | ACCCAGCCCCTTCAGTATACTTTAAATCAGGGGTGTCCAATCTTTTGGCTTCCCTGGGCCACATTGGAAGAATTGTCTTGGACCACACATAAAATACACTAACAGTTATAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCGGTTGGATCACTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGTGGCAGGCACCTTTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTCTGGAGG... |
Task1_train_26377 | Here is a genetic alteration in PNPLA6 (patatin like domain 6, lysophospholipase) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Laurence-Moon syndrome | GATCTCCTGACCTCGTGATCCGCCTGCCTCAGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCATCGCGCCCGGCTAAAAAATATTTTTATATTTATTTATATTTATATATAGATGGTGCTTATATCCAAAGTCTTTATTCTCTCCTTCATGTTTCTTTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCACGCTGGAGTGCAGTGGCGCGATCTTGGCTCATTGCAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCAC... | GATCTCCTGACCTCGTGATCCGCCTGCCTCAGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCATCGCGCCCGGCTAAAAAATATTTTTATATTTATTTATATTTATATATAGATGGTGCTTATATCCAAAGTCTTTATTCTCTCCTTCATGTTTCTTTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCACGCTGGAGTGCAGTGGCGCGATCTTGGCTCATTGCAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCAC... |
Task1_train_26378 | A variant has been detected on Chromosome 19 in PNPLA6 (patatin like domain 6, lysophospholipase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Spastic ataxia | CCTCCCAAAGTGTTGGGATTACAGGCATGAGCCATCGCGCCCGGCTAAAAAATATTTTTATATTTATTTATATTTATATATAGATGGTGCTTATATCCAAAGTCTTTATTCTCTCCTTCATGTTTCTTTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCACGCTGGAGTGCAGTGGCGCGATCTTGGCTCATTGCAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTCAGTAGAGAC... | CCTCCCAAAGTGTTGGGATTACAGGCATGAGCCATCGCGCCCGGCTAAAAAATATTTTTATATTTATTTATATTTATATATAGATGGTGCTTATATCCAAAGTCTTTATTCTCTCCTTCATGTTTCTTTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCACGCTGGAGTGCAGTGGCGCGATCTTGGCTCATTGCAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTCAGTAGAGAC... |
Task1_train_26379 | A variant found in Chromosome 19 affects PNPLA6 (patatin like domain 6, lysophospholipase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hereditary spastic paraplegia 39 | TGAATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCATCTCTACTAAAAGTACAAAAATTAGTCGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGACGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCCGAGCCTACGCCATTGCACTCCAGCCTGGGCAACCAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGAAAGAAAAAAAAAAAGAAAAGAAAAGGAAAGAAATTACAGATAGAGAATACAATATCTAGAAGACAAAAGAGGGTCATCT... | TGAATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCATCTCTACTAAAAGTACAAAAATTAGTCGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGACGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCCGAGCCTACGCCATTGCACTCCAGCCTGGGCAACCAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGAAAGAAAAAAAAAAAGAAAAGAAAAGGAAAGAAATTACAGATAGAGAATACAATATCTAGAAGACAAAAGAGGGTCATCT... |
Task1_train_26380 | This variant affects the gene PNPLA6 (patatin like domain 6, lysophospholipase) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 39 | GCACTGAGGAGGAAAGCGATCAAGGGGAGAGGTGATGGGGGTTGGGGGGTAAGTCACATAGGGGCTAGGGGCTGTGGACAGGCACTTGAGCTTATTTAGATTGTTATTGTTAGATTGGGGAGGAAGGATTCCACCAGTAAGGAGGCAACAAGAGGTCTAGGCAAGATATGGGAGTTGACAGCTGGTCTAGGCTGTTAGTGGAGAAACTGGGAAGCAACAGCTGGGTCAAAAGTAGCTTTTCTTTTCTTGTCTTTGTCTTTTCTTTTATTTTCTTTTTAAGACAGGGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGC... | GCACTGAGGAGGAAAGCGATCAAGGGGAGAGGTGATGGGGGTTGGGGGGTAAGTCACATAGGGGCTAGGGGCTGTGGACAGGCACTTGAGCTTATTTAGATTGTTATTGTTAGATTGGGGAGGAAGGATTCCACCAGTAAGGAGGCAACAAGAGGTCTAGGCAAGATATGGGAGTTGACAGCTGGTCTAGGCTGTTAGTGGAGAAACTGGGAAGCAACAGCTGGGTCAAAAGTAGCTTTTCTTTTCTTGTCTTTGTCTTTTCTTTTATTTTCTTTTTAAGACAGGGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGC... |
Task1_train_26381 | The gene PNPLA6 (patatin like domain 6, lysophospholipase), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary spastic paraplegia 39 | GAATCTGCCCACCGGAGCACGGACTTCCGTGGTGGGGGTTTGGGTGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCC... | GAATCTGCCCACCGGAGCACGGACTTCCGTGGTGGGGGTTTGGGTGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCC... |
Task1_train_26382 | This is a variant in PNPLA6 (patatin like domain 6, lysophospholipase), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary spastic paraplegia 39 | TTGGGTGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTG... | TTGGGTGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTG... |
Task1_train_26383 | This gene mutation involves PNPLA6 (patatin like domain 6, lysophospholipase) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary spastic paraplegia 39 | TGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTC... | TGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTC... |
Task1_train_26384 | This gene mutation involves PNPLA6 (patatin like domain 6, lysophospholipase) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ataxia-hypogonadism-choroidal dystrophy syndrome | AACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTCCCGTGCCTGCACCAGGCCA... | AACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTCCCGTGCCTGCACCAGGCCA... |
Task1_train_26385 | Here is a variant affecting PNPLA6 (patatin like domain 6, lysophospholipase) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hereditary spastic paraplegia 39 | ACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGG... | ACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGG... |
Task1_train_26386 | Chromosome 19 houses a mutation in gene PET100, STXBP2 (PET100 cytochrome c oxidase chaperone| syntaxin binding protein 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 12 | TCGGTCACACAGCGATGCTTCACCTGTGCCCGACGCGCCTTCAGGTATCGGTACCAGAGTTTGTAGCTGGGGAATAGGAGGGGACAGATGCTGATCGGTCAGCTTTATGGACACCCCCAGAACCATTTGCCCTGCCCCAGTTGGCAAATGTGGGAAGAAGGGGTGTGGGAGGGGTGACATGTCTCAGCAATGACAGGGACAGACTGGGACATCAGAGAAGGTGTGCTGACCCATCAAGGGATGTACAGGTCAGTGATGAAACACGAAGCAATCACCCGGGACCCGGGACCCACTTGGCAGTTTTGTTATAACTGGACCAG... | TCGGTCACACAGCGATGCTTCACCTGTGCCCGACGCGCCTTCAGGTATCGGTACCAGAGTTTGTAGCTGGGGAATAGGAGGGGACAGATGCTGATCGGTCAGCTTTATGGACACCCCCAGAACCATTTGCCCTGCCCCAGTTGGCAAATGTGGGAAGAAGGGGTGTGGGAGGGGTGACATGTCTCAGCAATGACAGGGACAGACTGGGACATCAGAGAAGGTGTGCTGACCCATCAAGGGATGTACAGGTCAGTGATGAAACACGAAGCAATCACCCGGGACCCGGGACCCACTTGGCAGTTTTGTTATAACTGGACCAG... |
Task1_train_26387 | Consider this mutation in PET100, STXBP2 (PET100 cytochrome c oxidase chaperone| syntaxin binding protein 2) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | TCGGTCACACAGCGATGCTTCACCTGTGCCCGACGCGCCTTCAGGTATCGGTACCAGAGTTTGTAGCTGGGGAATAGGAGGGGACAGATGCTGATCGGTCAGCTTTATGGACACCCCCAGAACCATTTGCCCTGCCCCAGTTGGCAAATGTGGGAAGAAGGGGTGTGGGAGGGGTGACATGTCTCAGCAATGACAGGGACAGACTGGGACATCAGAGAAGGTGTGCTGACCCATCAAGGGATGTACAGGTCAGTGATGAAACACGAAGCAATCACCCGGGACCCGGGACCCACTTGGCAGTTTTGTTATAACTGGACCAG... | TCGGTCACACAGCGATGCTTCACCTGTGCCCGACGCGCCTTCAGGTATCGGTACCAGAGTTTGTAGCTGGGGAATAGGAGGGGACAGATGCTGATCGGTCAGCTTTATGGACACCCCCAGAACCATTTGCCCTGCCCCAGTTGGCAAATGTGGGAAGAAGGGGTGTGGGAGGGGTGACATGTCTCAGCAATGACAGGGACAGACTGGGACATCAGAGAAGGTGTGCTGACCCATCAAGGGATGTACAGGTCAGTGATGAAACACGAAGCAATCACCCGGGACCCGGGACCCACTTGGCAGTTTTGTTATAACTGGACCAG... |
Task1_train_26388 | The gene PET100, STXBP2 (PET100 cytochrome c oxidase chaperone| syntaxin binding protein 2) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 12 | GGTCACACAGCGATGCTTCACCTGTGCCCGACGCGCCTTCAGGTATCGGTACCAGAGTTTGTAGCTGGGGAATAGGAGGGGACAGATGCTGATCGGTCAGCTTTATGGACACCCCCAGAACCATTTGCCCTGCCCCAGTTGGCAAATGTGGGAAGAAGGGGTGTGGGAGGGGTGACATGTCTCAGCAATGACAGGGACAGACTGGGACATCAGAGAAGGTGTGCTGACCCATCAAGGGATGTACAGGTCAGTGATGAAACACGAAGCAATCACCCGGGACCCGGGACCCACTTGGCAGTTTTGTTATAACTGGACCAGGT... | GGTCACACAGCGATGCTTCACCTGTGCCCGACGCGCCTTCAGGTATCGGTACCAGAGTTTGTAGCTGGGGAATAGGAGGGGACAGATGCTGATCGGTCAGCTTTATGGACACCCCCAGAACCATTTGCCCTGCCCCAGTTGGCAAATGTGGGAAGAAGGGGTGTGGGAGGGGTGACATGTCTCAGCAATGACAGGGACAGACTGGGACATCAGAGAAGGTGTGCTGACCCATCAAGGGATGTACAGGTCAGTGATGAAACACGAAGCAATCACCCGGGACCCGGGACCCACTTGGCAGTTTTGTTATAACTGGACCAGGT... |
Task1_train_26389 | Gene PET100, STXBP2 (PET100 cytochrome c oxidase chaperone| syntaxin binding protein 2) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Mitochondrial complex IV deficiency, nuclear type 1 | GGTCACACAGCGATGCTTCACCTGTGCCCGACGCGCCTTCAGGTATCGGTACCAGAGTTTGTAGCTGGGGAATAGGAGGGGACAGATGCTGATCGGTCAGCTTTATGGACACCCCCAGAACCATTTGCCCTGCCCCAGTTGGCAAATGTGGGAAGAAGGGGTGTGGGAGGGGTGACATGTCTCAGCAATGACAGGGACAGACTGGGACATCAGAGAAGGTGTGCTGACCCATCAAGGGATGTACAGGTCAGTGATGAAACACGAAGCAATCACCCGGGACCCGGGACCCACTTGGCAGTTTTGTTATAACTGGACCAGGT... | GGTCACACAGCGATGCTTCACCTGTGCCCGACGCGCCTTCAGGTATCGGTACCAGAGTTTGTAGCTGGGGAATAGGAGGGGACAGATGCTGATCGGTCAGCTTTATGGACACCCCCAGAACCATTTGCCCTGCCCCAGTTGGCAAATGTGGGAAGAAGGGGTGTGGGAGGGGTGACATGTCTCAGCAATGACAGGGACAGACTGGGACATCAGAGAAGGTGTGCTGACCCATCAAGGGATGTACAGGTCAGTGATGAAACACGAAGCAATCACCCGGGACCCGGGACCCACTTGGCAGTTTTGTTATAACTGGACCAGGT... |
Task1_train_26390 | Here is a mutation in STXBP2 (syntaxin binding protein 2) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE | TGCGTCTGTGTGTGCATTTGTGTGTATGTGTGTATGCGTGTGTGTCTGTGGGTCTGTGTGTGCATTTGTGTCTGTGCATGTGTGTATGCGTGTGTATGTATGTGTGTGTGCATCTGTGTGCATCTGTATGTGTGTGTGTGCGTCTGTCTGTGTGCATGTGTGTATGCGTGTGTATGTATGTGTCTGCGTCTGTGTGTGCGTCTGTGTGTATCTGTGTGTGCATGTGTGTATGCGTGTATATGTATGTGCATCTGTGTGCATGTGTCTATGTATGTGTGTGCATCTGTGTGTGCGTGTGTATGCGTGTGTGTATGCGTCTG... | TGCGTCTGTGTGTGCATTTGTGTGTATGTGTGTATGCGTGTGTGTCTGTGGGTCTGTGTGTGCATTTGTGTCTGTGCATGTGTGTATGCGTGTGTATGTATGTGTGTGTGCATCTGTGTGCATCTGTATGTGTGTGTGTGCGTCTGTCTGTGTGCATGTGTGTATGCGTGTGTATGTATGTGTCTGCGTCTGTGTGTGCGTCTGTGTGTATCTGTGTGTGCATGTGTGTATGCGTGTATATGTATGTGCATCTGTGTGCATGTGTCTATGTATGTGTGTGCATCTGTGTGTGCGTGTGTATGCGTGTGTGTATGCGTCTG... |
Task1_train_26391 | The gene STXBP2 (syntaxin binding protein 2) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Familial hemophagocytic lymphohistiocytosis 5 | TTCACCCCACCTCTCCCTGTCCCCCCTGAGTGGGCTCACCCATGGCCTGTGGCTCCTCTCCCCTCACTCTCACCCCCGCCCACCCTCATGGCCAGGAAGGTCACGGAGCTCCTGAGGACCTTCTGTGAGAGCAAGAGGCTGACCACGGACAAGGTAGGGGCGGACCCAGGTCACCAAAGGCGCTGGTGGAAGGAAGCCCCCCTCCCCATGGGCGCAGGGCCACAGCCTGGATTTCGAGCCTGGACTGAGACCCAGGTGGGCACTGCCTGGCTTCGCCCCCCAATCCCTACCCTCTTCCCCCTACTTCCCCAGGCGAACAT... | TTCACCCCACCTCTCCCTGTCCCCCCTGAGTGGGCTCACCCATGGCCTGTGGCTCCTCTCCCCTCACTCTCACCCCCGCCCACCCTCATGGCCAGGAAGGTCACGGAGCTCCTGAGGACCTTCTGTGAGAGCAAGAGGCTGACCACGGACAAGGTAGGGGCGGACCCAGGTCACCAAAGGCGCTGGTGGAAGGAAGCCCCCCTCCCCATGGGCGCAGGGCCACAGCCTGGATTTCGAGCCTGGACTGAGACCCAGGTGGGCACTGCCTGGCTTCGCCCCCCAATCCCTACCCTCTTCCCCCTACTTCCCCAGGCGAACAT... |
Task1_train_26392 | This alteration in STXBP2 (syntaxin binding protein 2) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Familial hemophagocytic lymphohistiocytosis | TCACCCCACCTCTCCCTGTCCCCCCTGAGTGGGCTCACCCATGGCCTGTGGCTCCTCTCCCCTCACTCTCACCCCCGCCCACCCTCATGGCCAGGAAGGTCACGGAGCTCCTGAGGACCTTCTGTGAGAGCAAGAGGCTGACCACGGACAAGGTAGGGGCGGACCCAGGTCACCAAAGGCGCTGGTGGAAGGAAGCCCCCCTCCCCATGGGCGCAGGGCCACAGCCTGGATTTCGAGCCTGGACTGAGACCCAGGTGGGCACTGCCTGGCTTCGCCCCCCAATCCCTACCCTCTTCCCCCTACTTCCCCAGGCGAACATC... | TCACCCCACCTCTCCCTGTCCCCCCTGAGTGGGCTCACCCATGGCCTGTGGCTCCTCTCCCCTCACTCTCACCCCCGCCCACCCTCATGGCCAGGAAGGTCACGGAGCTCCTGAGGACCTTCTGTGAGAGCAAGAGGCTGACCACGGACAAGGTAGGGGCGGACCCAGGTCACCAAAGGCGCTGGTGGAAGGAAGCCCCCCTCCCCATGGGCGCAGGGCCACAGCCTGGATTTCGAGCCTGGACTGAGACCCAGGTGGGCACTGCCTGGCTTCGCCCCCCAATCCCTACCCTCTTCCCCCTACTTCCCCAGGCGAACATC... |
Task1_train_26393 | This genomic variant is located on Chromosome 19, within the STXBP2 (syntaxin binding protein 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Familial hemophagocytic lymphohistiocytosis 5 | TCACCCCACCTCTCCCTGTCCCCCCTGAGTGGGCTCACCCATGGCCTGTGGCTCCTCTCCCCTCACTCTCACCCCCGCCCACCCTCATGGCCAGGAAGGTCACGGAGCTCCTGAGGACCTTCTGTGAGAGCAAGAGGCTGACCACGGACAAGGTAGGGGCGGACCCAGGTCACCAAAGGCGCTGGTGGAAGGAAGCCCCCCTCCCCATGGGCGCAGGGCCACAGCCTGGATTTCGAGCCTGGACTGAGACCCAGGTGGGCACTGCCTGGCTTCGCCCCCCAATCCCTACCCTCTTCCCCCTACTTCCCCAGGCGAACATC... | TCACCCCACCTCTCCCTGTCCCCCCTGAGTGGGCTCACCCATGGCCTGTGGCTCCTCTCCCCTCACTCTCACCCCCGCCCACCCTCATGGCCAGGAAGGTCACGGAGCTCCTGAGGACCTTCTGTGAGAGCAAGAGGCTGACCACGGACAAGGTAGGGGCGGACCCAGGTCACCAAAGGCGCTGGTGGAAGGAAGCCCCCCTCCCCATGGGCGCAGGGCCACAGCCTGGATTTCGAGCCTGGACTGAGACCCAGGTGGGCACTGCCTGGCTTCGCCCCCCAATCCCTACCCTCTTCCCCCTACTTCCCCAGGCGAACATC... |
Task1_train_26394 | Gene STXBP2 (syntaxin binding protein 2) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Familial hemophagocytic lymphohistiocytosis 5 | GAGGGGTGGAGCCTCGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTAGTCTCAGGATAGTGGTGTGACCTGTGTGTAGGTGGGTGGGGCACTGGAAAGGTGGGACCTGGGTGAGGAGCAGGGCCTGTGGAGAGACTGTCCCTGGACAGGGGTGGGACCTTGAGAGACCTGGTGCTGAGATGAGGTAGGACCCAAATGTCCTCTTGCCGAGGATCCTGGGGATGTCCTTGGCCCGCCTCTCCCATCCCCTTCCCTGACACATAGCGGCCGGTGGAC... | GAGGGGTGGAGCCTCGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTAGTCTCAGGATAGTGGTGTGACCTGTGTGTAGGTGGGTGGGGCACTGGAAAGGTGGGACCTGGGTGAGGAGCAGGGCCTGTGGAGAGACTGTCCCTGGACAGGGGTGGGACCTTGAGAGACCTGGTGCTGAGATGAGGTAGGACCCAAATGTCCTCTTGCCGAGGATCCTGGGGATGTCCTTGGCCCGCCTCTCCCATCCCCTTCCCTGACACATAGCGGCCGGTGGAC... |
Task1_train_26395 | Assess the clinical impact of this variant on gene RPS28 (ribosomal protein S28), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | CCGGGAGATGGAGATTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGTTGAAAACAAAGTTTGATACTTCTAATATTTGGAATTAGTCACAACATATAGGCATTTACATAAATTTCATTATTTTAATGCTATTTTTCTTCCTTTCATTATAATCCTCAATGACTGCCTTACCTCTGCCTACCCTTTGACTTCATAGATTATACCATTATCCCTTTCCCTCAATGGGTTCCATCCATACTGGCCTCCTTCCACTCAGGCTCTGTCCAGC... | CCGGGAGATGGAGATTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGTTGAAAACAAAGTTTGATACTTCTAATATTTGGAATTAGTCACAACATATAGGCATTTACATAAATTTCATTATTTTAATGCTATTTTTCTTCCTTTCATTATAATCCTCAATGACTGCCTTACCTCTGCCTACCCTTTGACTTCATAGATTATACCATTATCCCTTTCCCTCAATGGGTTCCATCCATACTGGCCTCCTTCCACTCAGGCTCTGTCCAGC... |
Task1_train_26396 | Here is a mutation in ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Weill-Marchesani syndrome 1 | TTAGGTGATCCTCCCACCTCAGCCTCTGGAGTAGCTGGGACTACAGGCGTGAGCCACCACACCTGGCTAACTAAAAAACCTTTTTTTTTTTTTTTTTTTTTTTGTAGAGTTGGGGGTCTCCTTAAGTTGCTCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAAGTGCTGGGAGCACCGGTATGAGCCTGGCCAGCTTTTTTTTTTTTTCAGACAGGATCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGTGCGATCATAGGTTACTGCAGCCTTGACCTCCTGGGCTCAAGGGATC... | TTAGGTGATCCTCCCACCTCAGCCTCTGGAGTAGCTGGGACTACAGGCGTGAGCCACCACACCTGGCTAACTAAAAAACCTTTTTTTTTTTTTTTTTTTTTTTGTAGAGTTGGGGGTCTCCTTAAGTTGCTCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAAGTGCTGGGAGCACCGGTATGAGCCTGGCCAGCTTTTTTTTTTTTTCAGACAGGATCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGTGCGATCATAGGTTACTGCAGCCTTGACCTCCTGGGCTCAAGGGATC... |
Task1_train_26397 | Given a variant located on Chromosome 19 and affecting ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Weill-Marchesani syndrome 1 | CTCATCCGGCCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCACCTGGCCACATGGAGTCTTTCTTGAGAGAGAAGGTCTGGAAGGGATCAGGGTTTATAGAAAGTGCTAGCATGTGGATTCTCTGAAGACCTGGTTCCCCCCAGCTGGGAGGCTGAAAAGTCCAAAGCTCTCACTGCCCTCTAAAACACCCCCTCCCCAGTAAACTTCTCACTGCTCACTGA... | CTCATCCGGCCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCACCTGGCCACATGGAGTCTTTCTTGAGAGAGAAGGTCTGGAAGGGATCAGGGTTTATAGAAAGTGCTAGCATGTGGATTCTCTGAAGACCTGGTTCCCCCCAGCTGGGAGGCTGAAAAGTCCAAAGCTCTCACTGCCCTCTAAAACACCCCCTCCCCAGTAAACTTCTCACTGCTCACTGA... |
Task1_train_26398 | A variant on Chromosome 19 in gene ACTL9 (actin like 9) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Spermatogenic failure 53 | TGGAGGTCCGGATGTCCTTCAGGCTGGGCTAGGGGGCATGAAGACAGAGGGTCCTACCTCCAGAGGGGACCCAGGACGCTCGCCATCCTGAGAGGCTGGATTCCCCCTCCCGACCCTGGCAGGGACAGGGTGGGGTGGGAGAGGCCTCCTCGAGCATCCTCAGTGCACAACCCAGAGAAAGCTCATGGGACTGAGAGGAACAGGCTGAGAGATGGACTTTTAATGGAATGGAGGGAGATGGGGATGCATAGCCTGGGACACATGGGCCCTGGGTGCCTGTGCTGGGGCGAGTGAGAGAGCCAGTGTCCAGGTGAAGCTCC... | TGGAGGTCCGGATGTCCTTCAGGCTGGGCTAGGGGGCATGAAGACAGAGGGTCCTACCTCCAGAGGGGACCCAGGACGCTCGCCATCCTGAGAGGCTGGATTCCCCCTCCCGACCCTGGCAGGGACAGGGTGGGGTGGGAGAGGCCTCCTCGAGCATCCTCAGTGCACAACCCAGAGAAAGCTCATGGGACTGAGAGGAACAGGCTGAGAGATGGACTTTTAATGGAATGGAGGGAGATGGGGATGCATAGCCTGGGACACATGGGCCCTGGGTGCCTGTGCTGGGGCGAGTGAGAGAGCCAGTGTCCAGGTGAAGCTCC... |
Task1_train_26399 | Assess the clinical impact of this variant on gene ACTL9 (actin like 9), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Spermatogenic failure 53 | CCCTCCCGACCCTGGCAGGGACAGGGTGGGGTGGGAGAGGCCTCCTCGAGCATCCTCAGTGCACAACCCAGAGAAAGCTCATGGGACTGAGAGGAACAGGCTGAGAGATGGACTTTTAATGGAATGGAGGGAGATGGGGATGCATAGCCTGGGACACATGGGCCCTGGGTGCCTGTGCTGGGGCGAGTGAGAGAGCCAGTGTCCAGGTGAAGCTCCTTGCCTGGGGCATCTGCCCCATGACTGCAGTGGACTGGGAAGCCCTTAAGAGTATCACTACCCACTGATGTCCAAGTCTTGCTTGATAGTATGGTGTCCAGGGA... | CCCTCCCGACCCTGGCAGGGACAGGGTGGGGTGGGAGAGGCCTCCTCGAGCATCCTCAGTGCACAACCCAGAGAAAGCTCATGGGACTGAGAGGAACAGGCTGAGAGATGGACTTTTAATGGAATGGAGGGAGATGGGGATGCATAGCCTGGGACACATGGGCCCTGGGTGCCTGTGCTGGGGCGAGTGAGAGAGCCAGTGTCCAGGTGAAGCTCCTTGCCTGGGGCATCTGCCCCATGACTGCAGTGGACTGGGAAGCCCTTAAGAGTATCACTACCCACTGATGTCCAAGTCTTGCTTGATAGTATGGTGTCCAGGGA... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.