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_11800 | Gene COL1A2 (collagen type I alpha 2 chain), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | GTACAGTTGGACCTGCTGGCATTCGAGGCCCTCAGGGTCACCAAGGCCCTGCTGTAAGTATGATTTGGGGAAATAATAAAGAAGATCACGGACCTAAGGAATGTTTTCTTCAGACTAAACCAAGACAACTTTGACAACCCATTAAAGTTAGCCCCATTTCAATATATCCTCTAAAATATCTGGAAATTGTCTATATGCAATGGGCTTGTTAAGTCCATCCCTGCAAGTGTGCCTGGGGGCTCGTTATTTATTTATGTGAACTTGATTATTTTTTACTGATGAGAACATGCTTCCGTGTGAAGCTCAACTGAAAATCTGCT... | GTACAGTTGGACCTGCTGGCATTCGAGGCCCTCAGGGTCACCAAGGCCCTGCTGTAAGTATGATTTGGGGAAATAATAAAGAAGATCACGGACCTAAGGAATGTTTTCTTCAGACTAAACCAAGACAACTTTGACAACCCATTAAAGTTAGCCCCATTTCAATATATCCTCTAAAATATCTGGAAATTGTCTATATGCAATGGGCTTGTTAAGTCCATCCCTGCAAGTGTGCCTGGGGGCTCGTTATTTATTTATGTGAACTTGATTATTTTTTACTGATGAGAACATGCTTCCGTGTGAAGCTCAACTGAAAATCTGCT... |
Task1_train_11801 | This genomic variant is located on Chromosome 7, within the CASD1, SGCE (CAS1 domain containing 1| sarcoglycan epsilon) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Myoclonic dystonia 11 | AACAACTAAAGAAAACATGCAAAATCATTTGCAGCGACAAACTTTTTTTTCGAATTATAACTCAAGTAAGATTTTATTTTATGAGTGTTTGTATACAGACACACTGGAGTAATAGAGCTGGCATTGCGTACAATTTATAGAAATGCTATTTTAAAAGACTCCATATGAATATTTTGTAAAGGTTAAGGCTTAACATTAAATTAAAACTCATGGAAAGCGTTTCAAGTTGGGAAGGGATCTGAGACAAGAGTCCAAATAAATGCCACGGGACTGATTCTCTCAAATATCTGACGGCATGTGCCACCCTCTAGCAGGTGTTG... | AACAACTAAAGAAAACATGCAAAATCATTTGCAGCGACAAACTTTTTTTTCGAATTATAACTCAAGTAAGATTTTATTTTATGAGTGTTTGTATACAGACACACTGGAGTAATAGAGCTGGCATTGCGTACAATTTATAGAAATGCTATTTTAAAAGACTCCATATGAATATTTTGTAAAGGTTAAGGCTTAACATTAAATTAAAACTCATGGAAAGCGTTTCAAGTTGGGAAGGGATCTGAGACAAGAGTCCAAATAAATGCCACGGGACTGATTCTCTCAAATATCTGACGGCATGTGCCACCCTCTAGCAGGTGTTG... |
Task1_train_11802 | A genomic change on Chromosome 7 affects CASD1, SGCE (CAS1 domain containing 1| sarcoglycan epsilon). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Myoclonic dystonia 11 | ATTTTATGAGTGTTTGTATACAGACACACTGGAGTAATAGAGCTGGCATTGCGTACAATTTATAGAAATGCTATTTTAAAAGACTCCATATGAATATTTTGTAAAGGTTAAGGCTTAACATTAAATTAAAACTCATGGAAAGCGTTTCAAGTTGGGAAGGGATCTGAGACAAGAGTCCAAATAAATGCCACGGGACTGATTCTCTCAAATATCTGACGGCATGTGCCACCCTCTAGCAGGTGTTGGGTGTTGGGGGTCAGTCAGTTAGTGATTGAATTCTCAAACAAGTACTTGTAGGACAAAAATTCTGTTCTTAATAT... | ATTTTATGAGTGTTTGTATACAGACACACTGGAGTAATAGAGCTGGCATTGCGTACAATTTATAGAAATGCTATTTTAAAAGACTCCATATGAATATTTTGTAAAGGTTAAGGCTTAACATTAAATTAAAACTCATGGAAAGCGTTTCAAGTTGGGAAGGGATCTGAGACAAGAGTCCAAATAAATGCCACGGGACTGATTCTCTCAAATATCTGACGGCATGTGCCACCCTCTAGCAGGTGTTGGGTGTTGGGGGTCAGTCAGTTAGTGATTGAATTCTCAAACAAGTACTTGTAGGACAAAAATTCTGTTCTTAATAT... |
Task1_train_11803 | Located on Chromosome 7, this mutation impacts CASD1, SGCE (CAS1 domain containing 1| sarcoglycan epsilon). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Myoclonic dystonia 11 | AATATCTTCTCCCAGTTTGTGGGTTGTCTTTTTAAATCATGCTCTGGTTTAATGGTTGATAAACAGACATTCACAAATTTCATATAGTGAAATTGATAAATTTTTTCTCTTAAAAATATTTAGGTCTTACTTAACAAATCCTTCCCTATCCATAGGTCAAAGAGATTTTTCTACATTTTAATATAATTGTTTAAAAATTTGCATTTTACATGTAATCCCTAATCTACCTAGACTTGAGACCTGGCATATATTCTGTTAGATTTATTCCTAGTACCTCAACATTTTTGTTGCTATTAACAATGGTATTTTTAAAAACGTGT... | AATATCTTCTCCCAGTTTGTGGGTTGTCTTTTTAAATCATGCTCTGGTTTAATGGTTGATAAACAGACATTCACAAATTTCATATAGTGAAATTGATAAATTTTTTCTCTTAAAAATATTTAGGTCTTACTTAACAAATCCTTCCCTATCCATAGGTCAAAGAGATTTTTCTACATTTTAATATAATTGTTTAAAAATTTGCATTTTACATGTAATCCCTAATCTACCTAGACTTGAGACCTGGCATATATTCTGTTAGATTTATTCCTAGTACCTCAACATTTTTGTTGCTATTAACAATGGTATTTTTAAAAACGTGT... |
Task1_train_11804 | Located on Chromosome 7, this mutation impacts CASD1, SGCE (CAS1 domain containing 1| sarcoglycan epsilon). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Myoclonic dystonia 11 | TTTAAATCATGCTCTGGTTTAATGGTTGATAAACAGACATTCACAAATTTCATATAGTGAAATTGATAAATTTTTTCTCTTAAAAATATTTAGGTCTTACTTAACAAATCCTTCCCTATCCATAGGTCAAAGAGATTTTTCTACATTTTAATATAATTGTTTAAAAATTTGCATTTTACATGTAATCCCTAATCTACCTAGACTTGAGACCTGGCATATATTCTGTTAGATTTATTCCTAGTACCTCAACATTTTTGTTGCTATTAACAATGGTATTTTTAAAAACGTGTATTTTCTCAATACATGCTATTCATGTGTAG... | TTTAAATCATGCTCTGGTTTAATGGTTGATAAACAGACATTCACAAATTTCATATAGTGAAATTGATAAATTTTTTCTCTTAAAAATATTTAGGTCTTACTTAACAAATCCTTCCCTATCCATAGGTCAAAGAGATTTTTCTACATTTTAATATAATTGTTTAAAAATTTGCATTTTACATGTAATCCCTAATCTACCTAGACTTGAGACCTGGCATATATTCTGTTAGATTTATTCCTAGTACCTCAACATTTTTGTTGCTATTAACAATGGTATTTTTAAAAACGTGTATTTTCTCAATACATGCTATTCATGTGTAG... |
Task1_train_11805 | An alteration has been detected in SLC25A13 (solute carrier family 25 member 13) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Neonatal intrahepatic cholestasis due to citrin deficiency | GAACATTGGTAGTCTGACCCCACAGGCACATGTCATTAACTACTTTGCCATGATGGGTAACAATGCTTAAGACACAACCTTAAGTGAAAACTATCTATACAAAGTGTGATTACAGCTCTGTGAAAAACCTGAATAGGAAAAATGAGTAAAAATGTTAAATAGCAATTATCTTAGAGTAGTGAAATAATGAATAATATTTTTGTTATTTGCCTGTTCTAGTACTTTTCAAATATTTTATAATGAGTAATATTAGTTTCAAAATCATTTAAAAAAGGAGAAAAATAAACCTTAAATGAAAAAAAATCTCACCAGTCATTTCT... | GAACATTGGTAGTCTGACCCCACAGGCACATGTCATTAACTACTTTGCCATGATGGGTAACAATGCTTAAGACACAACCTTAAGTGAAAACTATCTATACAAAGTGTGATTACAGCTCTGTGAAAAACCTGAATAGGAAAAATGAGTAAAAATGTTAAATAGCAATTATCTTAGAGTAGTGAAATAATGAATAATATTTTTGTTATTTGCCTGTTCTAGTACTTTTCAAATATTTTATAATGAGTAATATTAGTTTCAAAATCATTTAAAAAAGGAGAAAAATAAACCTTAAATGAAAAAAAATCTCACCAGTCATTTCT... |
Task1_train_11806 | Given this variant in gene SLC25A13 (solute carrier family 25 member 13) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Citrin deficiency | GAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGCCTGGTGACAGAGCGAAACTCTGTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCACGTGTGCACACACACAAACACACACACAGAAAATGGAACCATCCATTCATCTACTCAGAGATCTAAAGGGACCTGGGTTGTCTGCTACCTACAGGATTGCTTAACTGAAAATAAACTCTTACTTCTTAAAGTAATGATTGGGGGGGAAAAAGGCAAGGGAGAAGACTTGAAAAGCTAAGGACCACTGT... | GAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGCCTGGTGACAGAGCGAAACTCTGTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCACGTGTGCACACACACAAACACACACACAGAAAATGGAACCATCCATTCATCTACTCAGAGATCTAAAGGGACCTGGGTTGTCTGCTACCTACAGGATTGCTTAACTGAAAATAAACTCTTACTTCTTAAAGTAATGATTGGGGGGGAAAAAGGCAAGGGAGAAGACTTGAAAAGCTAAGGACCACTGT... |
Task1_train_11807 | A sequence alteration has been identified in SLC25A13 (solute carrier family 25 member 13) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Citrin deficiency | AATGAACACAGGTGACTCCTAGAACTAATCTTATATTCACACTCTACTCATCATCCTGACAGACAGCTCTGTCTCTTGCCCTTAAGGTTGGGGCACCCAAAGATAAATGGCCATTTCTAAACCAGGAAAAGGGTGAAGAGCTGCCACTTGGGTGTTTACAGTGAGCCTCTGTCTGTACCTAATATATTGACTTACTACTCCTCTGAGAAGTTAAAAGCAGTCACTCTCATCTTACAGATAAAAGAACTGAAACGGCAAGAGTGGAAGCCTCTTTGCATAGCCCACATTAGCTCAGCACTCAGTACTCAGGCACACTTCTA... | AATGAACACAGGTGACTCCTAGAACTAATCTTATATTCACACTCTACTCATCATCCTGACAGACAGCTCTGTCTCTTGCCCTTAAGGTTGGGGCACCCAAAGATAAATGGCCATTTCTAAACCAGGAAAAGGGTGAAGAGCTGCCACTTGGGTGTTTACAGTGAGCCTCTGTCTGTACCTAATATATTGACTTACTACTCCTCTGAGAAGTTAAAAGCAGTCACTCTCATCTTACAGATAAAAGAACTGAAACGGCAAGAGTGGAAGCCTCTTTGCATAGCCCACATTAGCTCAGCACTCAGTACTCAGGCACACTTCTA... |
Task1_train_11808 | A variant found in Chromosome 7 affects SLC25A13 (solute carrier family 25 member 13). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Citrullinemia, type II, adult-onset | AATGAACACAGGTGACTCCTAGAACTAATCTTATATTCACACTCTACTCATCATCCTGACAGACAGCTCTGTCTCTTGCCCTTAAGGTTGGGGCACCCAAAGATAAATGGCCATTTCTAAACCAGGAAAAGGGTGAAGAGCTGCCACTTGGGTGTTTACAGTGAGCCTCTGTCTGTACCTAATATATTGACTTACTACTCCTCTGAGAAGTTAAAAGCAGTCACTCTCATCTTACAGATAAAAGAACTGAAACGGCAAGAGTGGAAGCCTCTTTGCATAGCCCACATTAGCTCAGCACTCAGTACTCAGGCACACTTCTA... | AATGAACACAGGTGACTCCTAGAACTAATCTTATATTCACACTCTACTCATCATCCTGACAGACAGCTCTGTCTCTTGCCCTTAAGGTTGGGGCACCCAAAGATAAATGGCCATTTCTAAACCAGGAAAAGGGTGAAGAGCTGCCACTTGGGTGTTTACAGTGAGCCTCTGTCTGTACCTAATATATTGACTTACTACTCCTCTGAGAAGTTAAAAGCAGTCACTCTCATCTTACAGATAAAAGAACTGAAACGGCAAGAGTGGAAGCCTCTTTGCATAGCCCACATTAGCTCAGCACTCAGTACTCAGGCACACTTCTA... |
Task1_train_11809 | A genomic change on Chromosome 7 affects SLC25A13 (solute carrier family 25 member 13). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Citrullinemia, type II, adult-onset | CTCCTAGAACTAATCTTATATTCACACTCTACTCATCATCCTGACAGACAGCTCTGTCTCTTGCCCTTAAGGTTGGGGCACCCAAAGATAAATGGCCATTTCTAAACCAGGAAAAGGGTGAAGAGCTGCCACTTGGGTGTTTACAGTGAGCCTCTGTCTGTACCTAATATATTGACTTACTACTCCTCTGAGAAGTTAAAAGCAGTCACTCTCATCTTACAGATAAAAGAACTGAAACGGCAAGAGTGGAAGCCTCTTTGCATAGCCCACATTAGCTCAGCACTCAGTACTCAGGCACACTTCTAGTTGCCAACAGTACA... | CTCCTAGAACTAATCTTATATTCACACTCTACTCATCATCCTGACAGACAGCTCTGTCTCTTGCCCTTAAGGTTGGGGCACCCAAAGATAAATGGCCATTTCTAAACCAGGAAAAGGGTGAAGAGCTGCCACTTGGGTGTTTACAGTGAGCCTCTGTCTGTACCTAATATATTGACTTACTACTCCTCTGAGAAGTTAAAAGCAGTCACTCTCATCTTACAGATAAAAGAACTGAAACGGCAAGAGTGGAAGCCTCTTTGCATAGCCCACATTAGCTCAGCACTCAGTACTCAGGCACACTTCTAGTTGCCAACAGTACA... |
Task1_train_11810 | Here is a variant affecting SLC25A13 (solute carrier family 25 member 13) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Citrin deficiency | CTCCTAGAACTAATCTTATATTCACACTCTACTCATCATCCTGACAGACAGCTCTGTCTCTTGCCCTTAAGGTTGGGGCACCCAAAGATAAATGGCCATTTCTAAACCAGGAAAAGGGTGAAGAGCTGCCACTTGGGTGTTTACAGTGAGCCTCTGTCTGTACCTAATATATTGACTTACTACTCCTCTGAGAAGTTAAAAGCAGTCACTCTCATCTTACAGATAAAAGAACTGAAACGGCAAGAGTGGAAGCCTCTTTGCATAGCCCACATTAGCTCAGCACTCAGTACTCAGGCACACTTCTAGTTGCCAACAGTACA... | CTCCTAGAACTAATCTTATATTCACACTCTACTCATCATCCTGACAGACAGCTCTGTCTCTTGCCCTTAAGGTTGGGGCACCCAAAGATAAATGGCCATTTCTAAACCAGGAAAAGGGTGAAGAGCTGCCACTTGGGTGTTTACAGTGAGCCTCTGTCTGTACCTAATATATTGACTTACTACTCCTCTGAGAAGTTAAAAGCAGTCACTCTCATCTTACAGATAAAAGAACTGAAACGGCAAGAGTGGAAGCCTCTTTGCATAGCCCACATTAGCTCAGCACTCAGTACTCAGGCACACTTCTAGTTGCCAACAGTACA... |
Task1_train_11811 | The following genetic variant occurs in SLC25A13 (solute carrier family 25 member 13) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Neonatal intrahepatic cholestasis due to citrin deficiency | CTCCTAGAACTAATCTTATATTCACACTCTACTCATCATCCTGACAGACAGCTCTGTCTCTTGCCCTTAAGGTTGGGGCACCCAAAGATAAATGGCCATTTCTAAACCAGGAAAAGGGTGAAGAGCTGCCACTTGGGTGTTTACAGTGAGCCTCTGTCTGTACCTAATATATTGACTTACTACTCCTCTGAGAAGTTAAAAGCAGTCACTCTCATCTTACAGATAAAAGAACTGAAACGGCAAGAGTGGAAGCCTCTTTGCATAGCCCACATTAGCTCAGCACTCAGTACTCAGGCACACTTCTAGTTGCCAACAGTACA... | CTCCTAGAACTAATCTTATATTCACACTCTACTCATCATCCTGACAGACAGCTCTGTCTCTTGCCCTTAAGGTTGGGGCACCCAAAGATAAATGGCCATTTCTAAACCAGGAAAAGGGTGAAGAGCTGCCACTTGGGTGTTTACAGTGAGCCTCTGTCTGTACCTAATATATTGACTTACTACTCCTCTGAGAAGTTAAAAGCAGTCACTCTCATCTTACAGATAAAAGAACTGAAACGGCAAGAGTGGAAGCCTCTTTGCATAGCCCACATTAGCTCAGCACTCAGTACTCAGGCACACTTCTAGTTGCCAACAGTACA... |
Task1_train_11812 | Assess the clinical impact of this variant on gene SLC25A13 (solute carrier family 25 member 13), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Citrullinemia, type II, adult-onset | CTCCTAGAACTAATCTTATATTCACACTCTACTCATCATCCTGACAGACAGCTCTGTCTCTTGCCCTTAAGGTTGGGGCACCCAAAGATAAATGGCCATTTCTAAACCAGGAAAAGGGTGAAGAGCTGCCACTTGGGTGTTTACAGTGAGCCTCTGTCTGTACCTAATATATTGACTTACTACTCCTCTGAGAAGTTAAAAGCAGTCACTCTCATCTTACAGATAAAAGAACTGAAACGGCAAGAGTGGAAGCCTCTTTGCATAGCCCACATTAGCTCAGCACTCAGTACTCAGGCACACTTCTAGTTGCCAACAGTACA... | CTCCTAGAACTAATCTTATATTCACACTCTACTCATCATCCTGACAGACAGCTCTGTCTCTTGCCCTTAAGGTTGGGGCACCCAAAGATAAATGGCCATTTCTAAACCAGGAAAAGGGTGAAGAGCTGCCACTTGGGTGTTTACAGTGAGCCTCTGTCTGTACCTAATATATTGACTTACTACTCCTCTGAGAAGTTAAAAGCAGTCACTCTCATCTTACAGATAAAAGAACTGAAACGGCAAGAGTGGAAGCCTCTTTGCATAGCCCACATTAGCTCAGCACTCAGTACTCAGGCACACTTCTAGTTGCCAACAGTACA... |
Task1_train_11813 | This variant affects the gene SLC25A13 (solute carrier family 25 member 13) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Citrullinemia type II | CTCCTAGAACTAATCTTATATTCACACTCTACTCATCATCCTGACAGACAGCTCTGTCTCTTGCCCTTAAGGTTGGGGCACCCAAAGATAAATGGCCATTTCTAAACCAGGAAAAGGGTGAAGAGCTGCCACTTGGGTGTTTACAGTGAGCCTCTGTCTGTACCTAATATATTGACTTACTACTCCTCTGAGAAGTTAAAAGCAGTCACTCTCATCTTACAGATAAAAGAACTGAAACGGCAAGAGTGGAAGCCTCTTTGCATAGCCCACATTAGCTCAGCACTCAGTACTCAGGCACACTTCTAGTTGCCAACAGTACA... | CTCCTAGAACTAATCTTATATTCACACTCTACTCATCATCCTGACAGACAGCTCTGTCTCTTGCCCTTAAGGTTGGGGCACCCAAAGATAAATGGCCATTTCTAAACCAGGAAAAGGGTGAAGAGCTGCCACTTGGGTGTTTACAGTGAGCCTCTGTCTGTACCTAATATATTGACTTACTACTCCTCTGAGAAGTTAAAAGCAGTCACTCTCATCTTACAGATAAAAGAACTGAAACGGCAAGAGTGGAAGCCTCTTTGCATAGCCCACATTAGCTCAGCACTCAGTACTCAGGCACACTTCTAGTTGCCAACAGTACA... |
Task1_train_11814 | This genomic variant is located on Chromosome 7, within the SLC25A13 (solute carrier family 25 member 13) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Neonatal intrahepatic cholestasis due to citrin deficiency | CTCCTAGAACTAATCTTATATTCACACTCTACTCATCATCCTGACAGACAGCTCTGTCTCTTGCCCTTAAGGTTGGGGCACCCAAAGATAAATGGCCATTTCTAAACCAGGAAAAGGGTGAAGAGCTGCCACTTGGGTGTTTACAGTGAGCCTCTGTCTGTACCTAATATATTGACTTACTACTCCTCTGAGAAGTTAAAAGCAGTCACTCTCATCTTACAGATAAAAGAACTGAAACGGCAAGAGTGGAAGCCTCTTTGCATAGCCCACATTAGCTCAGCACTCAGTACTCAGGCACACTTCTAGTTGCCAACAGTACA... | CTCCTAGAACTAATCTTATATTCACACTCTACTCATCATCCTGACAGACAGCTCTGTCTCTTGCCCTTAAGGTTGGGGCACCCAAAGATAAATGGCCATTTCTAAACCAGGAAAAGGGTGAAGAGCTGCCACTTGGGTGTTTACAGTGAGCCTCTGTCTGTACCTAATATATTGACTTACTACTCCTCTGAGAAGTTAAAAGCAGTCACTCTCATCTTACAGATAAAAGAACTGAAACGGCAAGAGTGGAAGCCTCTTTGCATAGCCCACATTAGCTCAGCACTCAGTACTCAGGCACACTTCTAGTTGCCAACAGTACA... |
Task1_train_11815 | This is a variant in DLX5, LOC126860116 (distal-less homeobox 5| CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:96650255-96651454), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Split hand-foot malformation 1 | CTAGAAAAAAAGTAAAGGAGAAGAGAACGAAAAAAATAAAGGAGGTGGAAGGGAGGTAGGGAGAGAAGAGGAGGAGGAGGCAGGCAGAGAGACAGAGAAAATGAGAGAGAAAGAGAGAGAGAGAGGAGAGAGAGACGAGACAGAGAGAGAAACATGTAGGTAAGGTAAATTCCCCTCAAGGCACATAGCGTGCCTTTTCAGGTCTAGTCTCCCAACCCTGGAAGAGCCTTCTGAGAAATCCTCAGTGACAGGATATAATTTTTTATGCTCTAATCTACCCCCACTTTAAGAAGGCTCTTTTGTCACATTTATTGCTGCTG... | CTAGAAAAAAAGTAAAGGAGAAGAGAACGAAAAAAATAAAGGAGGTGGAAGGGAGGTAGGGAGAGAAGAGGAGGAGGAGGCAGGCAGAGAGACAGAGAAAATGAGAGAGAAAGAGAGAGAGAGAGGAGAGAGAGACGAGACAGAGAGAGAAACATGTAGGTAAGGTAAATTCCCCTCAAGGCACATAGCGTGCCTTTTCAGGTCTAGTCTCCCAACCCTGGAAGAGCCTTCTGAGAAATCCTCAGTGACAGGATATAATTTTTTATGCTCTAATCTACCCCCACTTTAAGAAGGCTCTTTTGTCACATTTATTGCTGCTG... |
Task1_train_11816 | This alteration in DLX5 (distal-less homeobox 5) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Split hand-foot malformation 1 with sensorineural hearing loss | GAAACAATTATGAGATATGGCAGTACTATAAACATGCCATATATATTATATATATATATGCACACACACACACAAAGTATAGCATTGAACATATATACATATACAGTCTGCATGCATAGAGCCCCGACTTCTGTTTTCTTTTTTGCCTTGTTGGATCTCTGCAGAGCTTGTCCTTCTTTAGTTGCCTTCAATAAAACTTCACTAGCCAGTTATCAGAGGGGCAGAATGAAGTATTTTTCAGAAACATTCCGCTTTTCATGGTCGAAATAATTTTATTTATCCAGAATATACAGTTTAATTCCTCTATCTACACTTATTTA... | GAAACAATTATGAGATATGGCAGTACTATAAACATGCCATATATATTATATATATATATGCACACACACACACAAAGTATAGCATTGAACATATATACATATACAGTCTGCATGCATAGAGCCCCGACTTCTGTTTTCTTTTTTGCCTTGTTGGATCTCTGCAGAGCTTGTCCTTCTTTAGTTGCCTTCAATAAAACTTCACTAGCCAGTTATCAGAGGGGCAGAATGAAGTATTTTTCAGAAACATTCCGCTTTTCATGGTCGAAATAATTTTATTTATCCAGAATATACAGTTTAATTCCTCTATCTACACTTATTTA... |
Task1_train_11817 | Here’s a variant in ASNS, CZ1P-ASNS (asparagine synthetase (glutamine-hydrolyzing)| CZ1P-ASNS readthrough) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | TGAGACCCTTTGAATCACCCATCACTTAGAAAATGCTAAAGTATTCATAATATGGATAGCTGCAGTGCCTTTTAAAGAACACTCATATGCATATTTTTAATACTTGGTGGCTCTGTTTTAGTCATTTGTGCCTAACAAGATCTGGCACCCAGCAGGTGCCCAAAAATCTGATAAATGAAAATCAGTGATGATTAGTAGTAAGTCTCCTCTCTCTCTCGATTCTAGATGCTACTTTATAATCCTTCATGCTACTTAATTCTTACGTAATTCTTACAAAAGAGATAATTGTTTACAGAGACTCTGAATCTCTCTGATAGGGA... | TGAGACCCTTTGAATCACCCATCACTTAGAAAATGCTAAAGTATTCATAATATGGATAGCTGCAGTGCCTTTTAAAGAACACTCATATGCATATTTTTAATACTTGGTGGCTCTGTTTTAGTCATTTGTGCCTAACAAGATCTGGCACCCAGCAGGTGCCCAAAAATCTGATAAATGAAAATCAGTGATGATTAGTAGTAAGTCTCCTCTCTCTCTCGATTCTAGATGCTACTTTATAATCCTTCATGCTACTTAATTCTTACGTAATTCTTACAAAAGAGATAATTGTTTACAGAGACTCTGAATCTCTCTGATAGGGA... |
Task1_train_11818 | Here is a variant affecting ASNS, CZ1P-ASNS (asparagine synthetase (glutamine-hydrolyzing)| CZ1P-ASNS readthrough) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not specified | GAAGAAAATCGATGATCTAGAAATGGGACTCTCAGTTCAAGACTTAAAGGAGAAAAGAAGAAAATCTAAATTAAAATGGGTATTTAGTGCCTGCCAGGTTAGGTTCTGATTCAGTTTCCCATCAATTCAACCAGATCTTAAGAAATGTTAAGGTCATACAGTCACATACAAGCCTCCTAATGACTGCCCTACACTAATGAATAGATACAAAAAATAAATCTTCATTTAAAATAATACATATATCATGTCATCTAGGGAGTAAAACTAACTGAGACTATTACTTTTACTTTCCCTTCTAGGAATAGTTAAATGCATATTTC... | GAAGAAAATCGATGATCTAGAAATGGGACTCTCAGTTCAAGACTTAAAGGAGAAAAGAAGAAAATCTAAATTAAAATGGGTATTTAGTGCCTGCCAGGTTAGGTTCTGATTCAGTTTCCCATCAATTCAACCAGATCTTAAGAAATGTTAAGGTCATACAGTCACATACAAGCCTCCTAATGACTGCCCTACACTAATGAATAGATACAAAAAATAAATCTTCATTTAAAATAATACATATATCATGTCATCTAGGGAGTAAAACTAACTGAGACTATTACTTTTACTTTCCCTTCTAGGAATAGTTAAATGCATATTTC... |
Task1_train_11819 | Here’s a variant in ASNS, CZ1P-ASNS (asparagine synthetase (glutamine-hydrolyzing)| CZ1P-ASNS readthrough) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Neurodevelopmental delay | TGACCATAAAGCATTCGGTGATATTAGTAAGCAACAGCTTCCCAAATCTACCTTACCCACCTCTTTGGCCTAAACTTTGCAGGTAACTTATTTAAAAAGGAGAAGGGTCCTTTGGGTAACGGATGTATTACTTCCTACTCTCCTAAAACCAAACTCCAATGCTGCACCTTAAATAAAAGCCCTCAAATCTTGCCTCCTGACGTCATGCTGTCATTTGACTTGGCTGCAGGCCCTGATACTCCCCTGCAGGGAGAGGGCCTGCTCTTTGCCCCAGCCTTTACCCCATTCCTCCTTTCTTTCATTCAGTCTCCTTCTACTCC... | TGACCATAAAGCATTCGGTGATATTAGTAAGCAACAGCTTCCCAAATCTACCTTACCCACCTCTTTGGCCTAAACTTTGCAGGTAACTTATTTAAAAAGGAGAAGGGTCCTTTGGGTAACGGATGTATTACTTCCTACTCTCCTAAAACCAAACTCCAATGCTGCACCTTAAATAAAAGCCCTCAAATCTTGCCTCCTGACGTCATGCTGTCATTTGACTTGGCTGCAGGCCCTGATACTCCCCTGCAGGGAGAGGGCCTGCTCTTTGCCCCAGCCTTTACCCCATTCCTCCTTTCTTTCATTCAGTCTCCTTCTACTCC... |
Task1_train_11820 | Gene ASNS, CZ1P-ASNS (asparagine synthetase (glutamine-hydrolyzing)| CZ1P-ASNS readthrough) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | CCTCAAATCTTGCCTCCTGACGTCATGCTGTCATTTGACTTGGCTGCAGGCCCTGATACTCCCCTGCAGGGAGAGGGCCTGCTCTTTGCCCCAGCCTTTACCCCATTCCTCCTTTCTTTCATTCAGTCTCCTTCTACTCCCAGTACACCTCTGGCTGTATTTTATTGTAGTGGTAAACTTTATTTTTACCAAAAAGGAGGTGTGGGGGGGATTTCTGAATACTTTATATAAGCCTAAAGTATACATTCTGCTCATTAGACAGACTGCTAGCTGCCCCAACTACATAAACTTAGATGCTTGGTAGAAGCAATGGAACAAAC... | CCTCAAATCTTGCCTCCTGACGTCATGCTGTCATTTGACTTGGCTGCAGGCCCTGATACTCCCCTGCAGGGAGAGGGCCTGCTCTTTGCCCCAGCCTTTACCCCATTCCTCCTTTCTTTCATTCAGTCTCCTTCTACTCCCAGTACACCTCTGGCTGTATTTTATTGTAGTGGTAAACTTTATTTTTACCAAAAAGGAGGTGTGGGGGGGATTTCTGAATACTTTATATAAGCCTAAAGTATACATTCTGCTCATTAGACAGACTGCTAGCTGCCCCAACTACATAAACTTAGATGCTTGGTAGAAGCAATGGAACAAAC... |
Task1_train_11821 | Mutation context: Chromosome 7, Gene TRRAP (transformation/transcription domain associated protein). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Developmental delay with or without dysmorphic facies and autism | TCTGAGGTAATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCCGGAGCCACCTTGCCTGGCCCCTGTAGGTTATTTTTGCATTTCATTTGTTACAGATACCAACATATACTTTAAGATAAACTATTTTGAGTTAAATAAAGATTGGAATATGCTTGTTTGGTTTTTTCCCTTTGGAGTAAACACATCAGAATTGCCTTCCATTGCTGTCGGATTACAGTGACACTTTAGAGTCTGGAGGGTATAGACCCTCCTCATTTAGATGCCACTAATCTGCGTCTTCTCCACCCCGCAGCCTCACTTGCACAAGATTG... | TCTGAGGTAATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCCGGAGCCACCTTGCCTGGCCCCTGTAGGTTATTTTTGCATTTCATTTGTTACAGATACCAACATATACTTTAAGATAAACTATTTTGAGTTAAATAAAGATTGGAATATGCTTGTTTGGTTTTTTCCCTTTGGAGTAAACACATCAGAATTGCCTTCCATTGCTGTCGGATTACAGTGACACTTTAGAGTCTGGAGGGTATAGACCCTCCTCATTTAGATGCCACTAATCTGCGTCTTCTCCACCCCGCAGCCTCACTTGCACAAGATTG... |
Task1_train_11822 | A variant on Chromosome 7 in gene TRRAP (transformation/transcription domain associated protein) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Developmental delay with or without dysmorphic facies and autism | CTCCTGGCACACCCCAAGTATGTCGGCCACTTCCTTCTGTGTGGTTGGGTGGATCCTGTTTTAGGAATTGGGGCTGCAGAGGGCCTCCCAGGTTTCCTGGTGCTAGGAGCAGGCTCCTTGAAGTCCAGCAGATGCCATATTATCTACCTACTCCTTCTTGTTGGGGCCTTAGAGAAAATGGAAAGGAGAACTGGGTGCTTGAGAATTAGAAGGGATCACAGTTGTCGCCTGCCTTTATTGTGTCTTGTCACCTCCTCCATTAGTTTGTAAGTGTGAAGAAATCAAGGGTCATGTCCCTTCTCCCTCCCTTTGTCTCACCA... | CTCCTGGCACACCCCAAGTATGTCGGCCACTTCCTTCTGTGTGGTTGGGTGGATCCTGTTTTAGGAATTGGGGCTGCAGAGGGCCTCCCAGGTTTCCTGGTGCTAGGAGCAGGCTCCTTGAAGTCCAGCAGATGCCATATTATCTACCTACTCCTTCTTGTTGGGGCCTTAGAGAAAATGGAAAGGAGAACTGGGTGCTTGAGAATTAGAAGGGATCACAGTTGTCGCCTGCCTTTATTGTGTCTTGTCACCTCCTCCATTAGTTTGTAAGTGTGAAGAAATCAAGGGTCATGTCCCTTCTCCCTCCCTTTGTCTCACCA... |
Task1_train_11823 | This sequence variant lies in TRRAP (transformation/transcription domain associated protein) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Developmental delay with or without dysmorphic facies and autism | GGCCACTTCCTTCTGTGTGGTTGGGTGGATCCTGTTTTAGGAATTGGGGCTGCAGAGGGCCTCCCAGGTTTCCTGGTGCTAGGAGCAGGCTCCTTGAAGTCCAGCAGATGCCATATTATCTACCTACTCCTTCTTGTTGGGGCCTTAGAGAAAATGGAAAGGAGAACTGGGTGCTTGAGAATTAGAAGGGATCACAGTTGTCGCCTGCCTTTATTGTGTCTTGTCACCTCCTCCATTAGTTTGTAAGTGTGAAGAAATCAAGGGTCATGTCCCTTCTCCCTCCCTTTGTCTCACCATTCTGTCCACAGCAGCTGGCGCCT... | GGCCACTTCCTTCTGTGTGGTTGGGTGGATCCTGTTTTAGGAATTGGGGCTGCAGAGGGCCTCCCAGGTTTCCTGGTGCTAGGAGCAGGCTCCTTGAAGTCCAGCAGATGCCATATTATCTACCTACTCCTTCTTGTTGGGGCCTTAGAGAAAATGGAAAGGAGAACTGGGTGCTTGAGAATTAGAAGGGATCACAGTTGTCGCCTGCCTTTATTGTGTCTTGTCACCTCCTCCATTAGTTTGTAAGTGTGAAGAAATCAAGGGTCATGTCCCTTCTCCCTCCCTTTGTCTCACCATTCTGTCCACAGCAGCTGGCGCCT... |
Task1_train_11824 | A sequence alteration has been identified in TRRAP (transformation/transcription domain associated protein) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Developmental delay with or without dysmorphic facies and autism | TAAAAATACCAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCAGAGATCGTGCCATTGTTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAGAAAAAAAAAGACAAAAAAAATGTCATGCCACTGCCAGTTGCTACATAAGTTTCTGAAAACCTACTGTCAATTTCAGCATCTCCTCCCAGACCAGTCACAGTTCGTCTGCAGACCGCACTGGAGTAGCACTGCCCAGTTGGTGTCCTCAAAGCC... | TAAAAATACCAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCAGAGATCGTGCCATTGTTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAGAAAAAAAAAGACAAAAAAAATGTCATGCCACTGCCAGTTGCTACATAAGTTTCTGAAAACCTACTGTCAATTTCAGCATCTCCTCCCAGACCAGTCACAGTTCGTCTGCAGACCGCACTGGAGTAGCACTGCCCAGTTGGTGTCCTCAAAGCC... |
Task1_train_11825 | This alteration in TRRAP (transformation/transcription domain associated protein) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Developmental delay with or without dysmorphic facies and autism | CGGAGCATAACCCATGGTCATTCCCATATTCTGCCCCTTGGCCTATTTAATAATTTTTTTAAAAAATGTTACCCCATTGTGGTTTTCTTTATTTTTTTTTTAATTTTTGTTTTGTTTTGCTTTTTAGATACAGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGGTCATGGCTCACTGCAGCCTCTACCTGCTGAGCTCAAGTGATCCTCCTGCCTCATCCTCTTGAGTAGCTGGGACTACAGGCATGTAACACCACGCCCGGCTAATTTTTTTTTTTTTTTCAGACGGGGTCTTGCTCTGTCGCCCAGGCT... | CGGAGCATAACCCATGGTCATTCCCATATTCTGCCCCTTGGCCTATTTAATAATTTTTTTAAAAAATGTTACCCCATTGTGGTTTTCTTTATTTTTTTTTTAATTTTTGTTTTGTTTTGCTTTTTAGATACAGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGGTCATGGCTCACTGCAGCCTCTACCTGCTGAGCTCAAGTGATCCTCCTGCCTCATCCTCTTGAGTAGCTGGGACTACAGGCATGTAACACCACGCCCGGCTAATTTTTTTTTTTTTTTCAGACGGGGTCTTGCTCTGTCGCCCAGGCT... |
Task1_train_11826 | A variant has been detected on Chromosome 7 in TRRAP (transformation/transcription domain associated protein). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Developmental delay with or without dysmorphic facies and autism | TCAATGAAAATTCATATAGCAGTTATTTTGTGAAAACCCCTGTTGCCGGTCAGCAGAGTTTCTGTGTTCCATTTTCATCTTCAGTTTTACAAAAGACTCTCCTAACAGCCAGTGAGCATATGAGACTGCCTGCAGTAGCTGCTGTGACTCCTCCTTTTCCAGTGAATGAAACCCTGTGGTGGCCGTAGTCCAGTCTGAAATGAGCTCGGTTTTAATATCTCTGTGCTTTACAGTTTGTGTTAGAGAGGGCTTTTTGAATTAAATGCCTGCATCATGTTATTTCCCCAAGGTTTACTGTATTGATCTTCACTGTTAAAGGC... | TCAATGAAAATTCATATAGCAGTTATTTTGTGAAAACCCCTGTTGCCGGTCAGCAGAGTTTCTGTGTTCCATTTTCATCTTCAGTTTTACAAAAGACTCTCCTAACAGCCAGTGAGCATATGAGACTGCCTGCAGTAGCTGCTGTGACTCCTCCTTTTCCAGTGAATGAAACCCTGTGGTGGCCGTAGTCCAGTCTGAAATGAGCTCGGTTTTAATATCTCTGTGCTTTACAGTTTGTGTTAGAGAGGGCTTTTTGAATTAAATGCCTGCATCATGTTATTTCCCCAAGGTTTACTGTATTGATCTTCACTGTTAAAGGC... |
Task1_train_11827 | This sequence variant lies in TRRAP (transformation/transcription domain associated protein) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Developmental delay with or without dysmorphic facies and autism | AATGAAAATTCATATAGCAGTTATTTTGTGAAAACCCCTGTTGCCGGTCAGCAGAGTTTCTGTGTTCCATTTTCATCTTCAGTTTTACAAAAGACTCTCCTAACAGCCAGTGAGCATATGAGACTGCCTGCAGTAGCTGCTGTGACTCCTCCTTTTCCAGTGAATGAAACCCTGTGGTGGCCGTAGTCCAGTCTGAAATGAGCTCGGTTTTAATATCTCTGTGCTTTACAGTTTGTGTTAGAGAGGGCTTTTTGAATTAAATGCCTGCATCATGTTATTTCCCCAAGGTTTACTGTATTGATCTTCACTGTTAAAGGCCG... | AATGAAAATTCATATAGCAGTTATTTTGTGAAAACCCCTGTTGCCGGTCAGCAGAGTTTCTGTGTTCCATTTTCATCTTCAGTTTTACAAAAGACTCTCCTAACAGCCAGTGAGCATATGAGACTGCCTGCAGTAGCTGCTGTGACTCCTCCTTTTCCAGTGAATGAAACCCTGTGGTGGCCGTAGTCCAGTCTGAAATGAGCTCGGTTTTAATATCTCTGTGCTTTACAGTTTGTGTTAGAGAGGGCTTTTTGAATTAAATGCCTGCATCATGTTATTTCCCCAAGGTTTACTGTATTGATCTTCACTGTTAAAGGCCG... |
Task1_train_11828 | Chromosome 7 houses a mutation in gene KPNA7 (karyopherin subunit alpha 7). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Oocyte/zygote/embryo maturation arrest 17 | TGGGATGGCATTGCTTGTGATGACGTTATCTCTGAACTCTGGGCCATCACCTACAAATAGAGCAGAATGTGACATTTAGAGAGAGAACAAAGACAATCCTGAAGTGGGTGACTAATTTTTTAAGAGTGTGCAAAGGGCAAGAGACAAAAACTCATTCCCGGGTTTAGCAAGTAGGTAGTAGAGCCACGTACTAAATTCTGGAAGTCTGGCATGGCTGGTGGGTGGACAGTCCTGATGTAACAGGCAGGCATCACACAGCAGCAACTGCTAGAAGCAGAGCCAGCCAACTCAGCCAAGGTGGGCTGTTGGCATCTCACAGC... | TGGGATGGCATTGCTTGTGATGACGTTATCTCTGAACTCTGGGCCATCACCTACAAATAGAGCAGAATGTGACATTTAGAGAGAGAACAAAGACAATCCTGAAGTGGGTGACTAATTTTTTAAGAGTGTGCAAAGGGCAAGAGACAAAAACTCATTCCCGGGTTTAGCAAGTAGGTAGTAGAGCCACGTACTAAATTCTGGAAGTCTGGCATGGCTGGTGGGTGGACAGTCCTGATGTAACAGGCAGGCATCACACAGCAGCAACTGCTAGAAGCAGAGCCAGCCAACTCAGCCAAGGTGGGCTGTTGGCATCTCACAGC... |
Task1_train_11829 | This mutation is located in gene ARPC1B (actin related protein 2/3 complex subunit 1B) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | CAGCTACTCGGGGGGCTGAGGCACGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTCGAGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCGAGACTCTGTCTCAAAAAAAAAAAAAGAGAGAAAGAAAGAAAGAAAAAGTGACCAAGAAAAAGCCTTTCGGAGGAGATGACATTTTGACATTTACCCAGAGACCCAGAGGGGGAGAGGAAGGGAACTGTGCCCCAGCTGGGGAGGGGCTGGCAGGTGCAGGGGCCCTGAGGTGTCAGCAGGAGCAGCGAAGGGTTCCTGGTTGGCCAGAGCAATAGG... | CAGCTACTCGGGGGGCTGAGGCACGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTCGAGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCGAGACTCTGTCTCAAAAAAAAAAAAAGAGAGAAAGAAAGAAAGAAAAAGTGACCAAGAAAAAGCCTTTCGGAGGAGATGACATTTTGACATTTACCCAGAGACCCAGAGGGGGAGAGGAAGGGAACTGTGCCCCAGCTGGGGAGGGGCTGGCAGGTGCAGGGGCCCTGAGGTGTCAGCAGGAGCAGCGAAGGGTTCCTGGTTGGCCAGAGCAATAGG... |
Task1_train_11830 | A change on Chromosome 7 affects gene ARPC1B (actin related protein 2/3 complex subunit 1B). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | TTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACCGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTACTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCAGGCTAATTTTGTATTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGGTCCTCCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTGCGCCCGGCCATATATATATTTTTGAGACAAGGTCTTGCTCTGTCGCTCAGGCTGGAGT... | TTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACCGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTACTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCAGGCTAATTTTGTATTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGGTCCTCCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTGCGCCCGGCCATATATATATTTTTGAGACAAGGTCTTGCTCTGTCGCTCAGGCTGGAGT... |
Task1_train_11831 | A variant on Chromosome 7 in gene CYP3A4 (cytochrome P450 family 3 subfamily A member 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Vitamin D-dependent rickets, type 3 | ATACAAGCAAATAATTATACAACCACATGACTGTCCTGTAGATTAAGAGAGGCAGAATATGCTTGAACCAGGCTGGTTCAGGGAGGGCTCCCTTCCCAGGGGCCTTGTACCTTTCAGGGAGGAACTTCTCAGGCTCTGTCCAGTACTTTGGGTCACGGTGAAGAGCATAGCTTGGAATCATCACCACCACCCCTTTGGGAATGAACATCCCATTGATCTCAACATCTTTTTTGCAGACCCTCTCAAGTCTCATAGCAATTGGGAATAATCTGAGCGTTTCATTCACCACCATGTCAAGATACTCCATCTGTAGCACAGTA... | ATACAAGCAAATAATTATACAACCACATGACTGTCCTGTAGATTAAGAGAGGCAGAATATGCTTGAACCAGGCTGGTTCAGGGAGGGCTCCCTTCCCAGGGGCCTTGTACCTTTCAGGGAGGAACTTCTCAGGCTCTGTCCAGTACTTTGGGTCACGGTGAAGAGCATAGCTTGGAATCATCACCACCACCCCTTTGGGAATGAACATCCCATTGATCTCAACATCTTTTTTGCAGACCCTCTCAAGTCTCATAGCAATTGGGAATAATCTGAGCGTTTCATTCACCACCATGTCAAGATACTCCATCTGTAGCACAGTA... |
Task1_train_11832 | A variant affecting Chromosome 7, within the gene MCM7 (minichromosome maintenance complex component 7), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Meier-Gorlin syndrome | CTAAGGGGAAGGTAGGGGGGAAAGATGGGAACGGGAGGAGGGCAGTGGAACGAGGTCAGGGGACACCCTTGTTCTGGCTTTAAGGCTGGGCAGCCCATGGGTCGCCTACTCACAAAACAGGAGTGGAATCCCCCCTCCCCCCAGCATCCGCAGTGTTGGGCCGGCACTGTCAGACCGAGACAAGTGCAATGCCCAGGGCAGCGTCCAGCAATTGCCCAAGTCTCCGCCTCTCAACACTGGCCAGTCCCGGAGTTCAGCTGTCCTGTGAGGGAGACCAGACCCTTTTGAACGCCACTGGGCTCCCCAGCATGACAGATGGA... | CTAAGGGGAAGGTAGGGGGGAAAGATGGGAACGGGAGGAGGGCAGTGGAACGAGGTCAGGGGACACCCTTGTTCTGGCTTTAAGGCTGGGCAGCCCATGGGTCGCCTACTCACAAAACAGGAGTGGAATCCCCCCTCCCCCCAGCATCCGCAGTGTTGGGCCGGCACTGTCAGACCGAGACAAGTGCAATGCCCAGGGCAGCGTCCAGCAATTGCCCAAGTCTCCGCCTCTCAACACTGGCCAGTCCCGGAGTTCAGCTGTCCTGTGAGGGAGACCAGACCCTTTTGAACGCCACTGGGCTCCCCAGCATGACAGATGGA... |
Task1_train_11833 | A genetic alteration is present in MCM7 (minichromosome maintenance complex component 7) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Meier-Gorlin syndrome | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... |
Task1_train_11834 | A genomic change on Chromosome 7 affects MCM7 (minichromosome maintenance complex component 7). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Astigmatism | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... |
Task1_train_11835 | A variant has been detected on Chromosome 7 in MCM7 (minichromosome maintenance complex component 7). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Microphthalmia | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... |
Task1_train_11836 | This variant affects the gene MCM7 (minichromosome maintenance complex component 7) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Microcephaly | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... |
Task1_train_11837 | Given this context: Chromosome 7, gene MCM7 (minichromosome maintenance complex component 7) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Anisometropia | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... |
Task1_train_11838 | A sequence alteration has been identified in MCM7 (minichromosome maintenance complex component 7) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Psychomotor retardation | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... |
Task1_train_11839 | A variant was discovered on Chromosome 7, affecting MCM7 (minichromosome maintenance complex component 7). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Progeroid facial appearance | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... |
Task1_train_11840 | Given this context: Chromosome 7, gene MCM7 (minichromosome maintenance complex component 7) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Trichiasis | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... |
Task1_train_11841 | Here is a genetic alteration in MCM7 (minichromosome maintenance complex component 7) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Deeply set eye | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... |
Task1_train_11842 | Given this context: Chromosome 7, gene MCM7 (minichromosome maintenance complex component 7) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hypermetropia | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... | GAACCATGAGAGAGAAAGAACAAGAAAGAGAACAAGCAAAAGACAACAAACGGGCCAGGGAGGCGAGGCCTGCGCTGGGATCATTCCACTCCCTCCACCAGGCCTTCTTGAGATGCCCGAGGATCTGTGGGGCACTGGCAATGTCCCCCTTCCCCTCCCACTGGTTCTCTTCAGAACACAACTGTGGCTCACTGAAACCTTGGCTCCTGGGCTCAAGCCATCCTCCGGCCTCAGCCTCCCAAGTAACTGAGACTATAGGCACTCACTACCACACCCAACCAATTTTTAAAACTTTTTAGTAGAGGCCGGGCGCAGTGGCT... |
Task1_train_11843 | A variant found in Chromosome 7 affects AP4M1 (adaptor related protein complex 4 subunit mu 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Inborn genetic diseases | GCCAAGTCTACCTTTTTTTTTTTTTTTTTTTTTGCTTTTAGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGACTGCAGTGGTGCAGTTATAGCTCACTGCAGCCTGGAACTCCTGGGCTCAAGCCGTCCTCCTGCCCCAGCCTCCCCTGTGCCTAGCTAATTGTTTATTTTTTGTAGAGACTAGAGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCATGGCCTCAAGCCATTCTCCTACGTCTCGGCCTTCCAAAGCGCTGAGAGTACAGGAGTGAGTCACCATGCCTGGCCCCACTCCCCCTCTTTACCCCTTCC... | GCCAAGTCTACCTTTTTTTTTTTTTTTTTTTTTGCTTTTAGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGACTGCAGTGGTGCAGTTATAGCTCACTGCAGCCTGGAACTCCTGGGCTCAAGCCGTCCTCCTGCCCCAGCCTCCCCTGTGCCTAGCTAATTGTTTATTTTTTGTAGAGACTAGAGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCATGGCCTCAAGCCATTCTCCTACGTCTCGGCCTTCCAAAGCGCTGAGAGTACAGGAGTGAGTCACCATGCCTGGCCCCACTCCCCCTCTTTACCCCTTCC... |
Task1_train_11844 | This alteration occurs within gene TAF6 (TATA-box binding protein associated factor 6) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Cornelia de Lange syndrome 1 | TGGGGGTGGGATGTGGGGAGCAATTCATAGGGCCCCCAGGAGGAGGCGTCTCAGGGCCAGGGCAAGCTGGTGGGGCCCTCACCGCCCTCTTGGCCTCGCAGGAGCCCACGCAGGCCTCGGTGATCTCCTTGTAGTAGAGCTGCTGCTCCACAGACAACTCGTGGATGCTCCGGGGCTTCAGTCGCAAGGGGGCCCCCTCCAGCAAGGGCGGCGCCTTCTTCTCTTTCCCTGTGTGATTGGAAAGGTGGGTCTGACAAAGAAAGCTCCAGAAGAAACCTCAGTAACAGAAGAACCTTAACCCTCCACTTCCCCTGAGACCC... | TGGGGGTGGGATGTGGGGAGCAATTCATAGGGCCCCCAGGAGGAGGCGTCTCAGGGCCAGGGCAAGCTGGTGGGGCCCTCACCGCCCTCTTGGCCTCGCAGGAGCCCACGCAGGCCTCGGTGATCTCCTTGTAGTAGAGCTGCTGCTCCACAGACAACTCGTGGATGCTCCGGGGCTTCAGTCGCAAGGGGGCCCCCTCCAGCAAGGGCGGCGCCTTCTTCTCTTTCCCTGTGTGATTGGAAAGGTGGGTCTGACAAAGAAAGCTCCAGAAGAAACCTCAGTAACAGAAGAACCTTAACCCTCCACTTCCCCTGAGACCC... |
Task1_train_11845 | A variant has been detected on Chromosome 7 in TAF6 (TATA-box binding protein associated factor 6). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Alazami-Yuan syndrome | TGGGGGTGGGATGTGGGGAGCAATTCATAGGGCCCCCAGGAGGAGGCGTCTCAGGGCCAGGGCAAGCTGGTGGGGCCCTCACCGCCCTCTTGGCCTCGCAGGAGCCCACGCAGGCCTCGGTGATCTCCTTGTAGTAGAGCTGCTGCTCCACAGACAACTCGTGGATGCTCCGGGGCTTCAGTCGCAAGGGGGCCCCCTCCAGCAAGGGCGGCGCCTTCTTCTCTTTCCCTGTGTGATTGGAAAGGTGGGTCTGACAAAGAAAGCTCCAGAAGAAACCTCAGTAACAGAAGAACCTTAACCCTCCACTTCCCCTGAGACCC... | TGGGGGTGGGATGTGGGGAGCAATTCATAGGGCCCCCAGGAGGAGGCGTCTCAGGGCCAGGGCAAGCTGGTGGGGCCCTCACCGCCCTCTTGGCCTCGCAGGAGCCCACGCAGGCCTCGGTGATCTCCTTGTAGTAGAGCTGCTGCTCCACAGACAACTCGTGGATGCTCCGGGGCTTCAGTCGCAAGGGGGCCCCCTCCAGCAAGGGCGGCGCCTTCTTCTCTTTCCCTGTGTGATTGGAAAGGTGGGTCTGACAAAGAAAGCTCCAGAAGAAACCTCAGTAACAGAAGAACCTTAACCCTCCACTTCCCCTGAGACCC... |
Task1_train_11846 | Gene LOC113687175, TFR2 (H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100224056-100224820| transferrin receptor 2) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hemochromatosis type 3 | GGATTGCTTGAGCCCGGGAGGTGGAGGTTGCCGTGAGCCCAGATCATGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGACCGTCTCAGAAAAAAAAAAAACAAAAAAACAAGCGGCAGTTTGAATTTGGCCAATGGGCAGTAGTTCACCAACCCCTGGTCTAGAGCCATAAAATTCACTGGGTCTGGCCCAATCCTGTATTGCAGGCTCTGAAGTCCTGAGTCCTTCCCTCTCCATCCCTGAGCCTGAGTCATGCATCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTTGAGATGGATTTTCGCTCTTGTTGCC... | GGATTGCTTGAGCCCGGGAGGTGGAGGTTGCCGTGAGCCCAGATCATGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGACCGTCTCAGAAAAAAAAAAAACAAAAAAACAAGCGGCAGTTTGAATTTGGCCAATGGGCAGTAGTTCACCAACCCCTGGTCTAGAGCCATAAAATTCACTGGGTCTGGCCCAATCCTGTATTGCAGGCTCTGAAGTCCTGAGTCCTTCCCTCTCCATCCCTGAGCCTGAGTCATGCATCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTTGAGATGGATTTTCGCTCTTGTTGCC... |
Task1_train_11847 | Here is a mutation in TFR2 (transferrin receptor 2) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary hemochromatosis | AGGGATTGGTGAGGGAATAAGCTCTTGTTTAACTTTCACGTGACACCTCCTCCAGGCAGCCTTTCTGGATTTCACCCATTTCATTATCAGAAGGAAAACAGCTCTCTTACTCTGAATATCTTTAGCCTTCTGCACTTCCCAGCCTGTAACCTCGTATTGTGGACCAGTGTGGACATGCTTTTTCTTTCCAGAAGGGTCGAGGAGGCAGTGGGAGCTATAGGAGGGGAGTCAGCGGGGAGGGGTGGGGGAGGGTGGATTGTCCCAGTTCTGCCAGGCGTAAACCAGGCGACTGTGGCCAAGAGGCTGGCCCTCCCTGTCCA... | AGGGATTGGTGAGGGAATAAGCTCTTGTTTAACTTTCACGTGACACCTCCTCCAGGCAGCCTTTCTGGATTTCACCCATTTCATTATCAGAAGGAAAACAGCTCTCTTACTCTGAATATCTTTAGCCTTCTGCACTTCCCAGCCTGTAACCTCGTATTGTGGACCAGTGTGGACATGCTTTTTCTTTCCAGAAGGGTCGAGGAGGCAGTGGGAGCTATAGGAGGGGAGTCAGCGGGGAGGGGTGGGGGAGGGTGGATTGTCCCAGTTCTGCCAGGCGTAAACCAGGCGACTGTGGCCAAGAGGCTGGCCCTCCCTGTCCA... |
Task1_train_11848 | This sequence change occurs on Chromosome 7, altering TFR2 (transferrin receptor 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not specified | AGGGATTGGTGAGGGAATAAGCTCTTGTTTAACTTTCACGTGACACCTCCTCCAGGCAGCCTTTCTGGATTTCACCCATTTCATTATCAGAAGGAAAACAGCTCTCTTACTCTGAATATCTTTAGCCTTCTGCACTTCCCAGCCTGTAACCTCGTATTGTGGACCAGTGTGGACATGCTTTTTCTTTCCAGAAGGGTCGAGGAGGCAGTGGGAGCTATAGGAGGGGAGTCAGCGGGGAGGGGTGGGGGAGGGTGGATTGTCCCAGTTCTGCCAGGCGTAAACCAGGCGACTGTGGCCAAGAGGCTGGCCCTCCCTGTCCA... | AGGGATTGGTGAGGGAATAAGCTCTTGTTTAACTTTCACGTGACACCTCCTCCAGGCAGCCTTTCTGGATTTCACCCATTTCATTATCAGAAGGAAAACAGCTCTCTTACTCTGAATATCTTTAGCCTTCTGCACTTCCCAGCCTGTAACCTCGTATTGTGGACCAGTGTGGACATGCTTTTTCTTTCCAGAAGGGTCGAGGAGGCAGTGGGAGCTATAGGAGGGGAGTCAGCGGGGAGGGGTGGGGGAGGGTGGATTGTCCCAGTTCTGCCAGGCGTAAACCAGGCGACTGTGGCCAAGAGGCTGGCCCTCCCTGTCCA... |
Task1_train_11849 | A genetic alteration is present in TFR2 (transferrin receptor 2) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hemochromatosis type 3 | AATCCAGTGGGAACTTTAGTTGCCAGACAGTAGACCCTGGAGAAAGGCTGTGTCCATCCAGAAGAGTCACTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAGTCAGGGTCCCGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGATGGGCGGATCACTAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGGGGGGCACCTGTAATCCTAGATACTCTGGAGTCTGAGGCAGAAGAATCACTTGAACCCGGGAGGT... | AATCCAGTGGGAACTTTAGTTGCCAGACAGTAGACCCTGGAGAAAGGCTGTGTCCATCCAGAAGAGTCACTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAGTCAGGGTCCCGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGATGGGCGGATCACTAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGGGGGGCACCTGTAATCCTAGATACTCTGGAGTCTGAGGCAGAAGAATCACTTGAACCCGGGAGGT... |
Task1_train_11850 | The following genetic variant occurs in TFR2 (transferrin receptor 2) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hemochromatosis type 3 | ACAAAAATTAGCCGGGCGTGGTGGGGGGGCACCTGTAATCCTAGATACTCTGGAGTCTGAGGCAGAAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGAAGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGGTCAGGGTCTCTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTAGTCATGGCTCACTGCAGGCTTAAACAAGAGTCACCTTTTTCTAGTTCACCCACAATCACCCTGTGGCCTCGCTGCAGCCTTCCTCTCTCTGCTTCCTCCTCTTCTGG... | ACAAAAATTAGCCGGGCGTGGTGGGGGGGCACCTGTAATCCTAGATACTCTGGAGTCTGAGGCAGAAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGAAGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGGTCAGGGTCTCTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTAGTCATGGCTCACTGCAGGCTTAAACAAGAGTCACCTTTTTCTAGTTCACCCACAATCACCCTGTGGCCTCGCTGCAGCCTTCCTCTCTCTGCTTCCTCCTCTTCTGG... |
Task1_train_11851 | A sequence alteration has been identified in ACTL6B (actin like 6B) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Autism spectrum disorder | TGTGCAGGCGAGGTGGGCATGAGATTGGGGCAAGAGGCCTGGGGGGTGGGGAGGCATCTGGCAATAATGAGGTCAGTGACTTGGGGGTGTCAAATGAGCATGGTGGTGGGGGCGTGGGGGAGGGGCAGGGGTGGGAAGAAGCGAGGTCAGGACACGGTCCAGGAGGGGCCAGCCTCAGGGGCTTGGGAGGGGGCTGAGGGACTTAGAGAGAAGGCCTAAGGGGTCTTCCCAATCCCACTAGTCTTACCGCTCTCTGGAATAGACCCCAAAGCCGCTCCATGCTTGTGTCCCCTCCTGAAGCCTGCAGGCTGTCCCCCAGC... | TGTGCAGGCGAGGTGGGCATGAGATTGGGGCAAGAGGCCTGGGGGGTGGGGAGGCATCTGGCAATAATGAGGTCAGTGACTTGGGGGTGTCAAATGAGCATGGTGGTGGGGGCGTGGGGGAGGGGCAGGGGTGGGAAGAAGCGAGGTCAGGACACGGTCCAGGAGGGGCCAGCCTCAGGGGCTTGGGAGGGGGCTGAGGGACTTAGAGAGAAGGCCTAAGGGGTCTTCCCAATCCCACTAGTCTTACCGCTCTCTGGAATAGACCCCAAAGCCGCTCCATGCTTGTGTCCCCTCCTGAAGCCTGCAGGCTGTCCCCCAGC... |
Task1_train_11852 | A variant on Chromosome 7 in gene ACTL6B (actin like 6B) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autism spectrum disorder | GTGTCTCACTATGTTGCCCAGCCTGGTCTCAAACTCCTGGGCTCAAGTAATCGTTCCACCTCAGCCTCCCATAATGTTGGGATTACAGGCGTGAGCTACCACGGCTGGGCTTCTTTGATCTTTCTCAGCCTACACACATGTGCTGTCCAATGCAGTGGCCACTAGCTTCCTGTAGCTCACCAGCCCTGGTCCAAATTGAGACGTGCTCTAAGTGGAAAATACACACCCAATTTTTTTGGGTTTTTTTTGAGACAGGATCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGCACAGCTCACTGCAGCCTCAACCTTCCAGG... | GTGTCTCACTATGTTGCCCAGCCTGGTCTCAAACTCCTGGGCTCAAGTAATCGTTCCACCTCAGCCTCCCATAATGTTGGGATTACAGGCGTGAGCTACCACGGCTGGGCTTCTTTGATCTTTCTCAGCCTACACACATGTGCTGTCCAATGCAGTGGCCACTAGCTTCCTGTAGCTCACCAGCCCTGGTCCAAATTGAGACGTGCTCTAAGTGGAAAATACACACCCAATTTTTTTGGGTTTTTTTTGAGACAGGATCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGCACAGCTCACTGCAGCCTCAACCTTCCAGG... |
Task1_train_11853 | This gene mutation involves ACTL6B (actin like 6B) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autism spectrum disorder | TTGCCGAGCCTCAGCTCCGGCCTGGCCTCACCGGGCGAATATCAATGTCACACATGCCGATGCTGGTGGTCACCACGTGGCCCACACCCAACATGGTGTTCCCCGACAGGCCCTGCAGAGAGAGGTGACTGGGGCTGTGGGCTCTCTCCCCCTTCCCCCCAGACCCCTGCAATCCTTCCCAGCCTCCCCCACGCCCCAGGATCCAGGGACTGCAGCCAGCACCCACCCCAGTCCTCGCCACACAGCCAAACCTTGACGTTCGAGGGATCAAACAGGCCCTCAGGGATGCGGAGTCGCTCGGCGCCGTAGTCTGTATTGTA... | TTGCCGAGCCTCAGCTCCGGCCTGGCCTCACCGGGCGAATATCAATGTCACACATGCCGATGCTGGTGGTCACCACGTGGCCCACACCCAACATGGTGTTCCCCGACAGGCCCTGCAGAGAGAGGTGACTGGGGCTGTGGGCTCTCTCCCCCTTCCCCCCAGACCCCTGCAATCCTTCCCAGCCTCCCCCACGCCCCAGGATCCAGGGACTGCAGCCAGCACCCACCCCAGTCCTCGCCACACAGCCAAACCTTGACGTTCGAGGGATCAAACAGGCCCTCAGGGATGCGGAGTCGCTCGGCGCCGTAGTCTGTATTGTA... |
Task1_train_11854 | Assess the clinical impact of this variant on gene ACTL6B (actin like 6B), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Autism spectrum disorder | TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCGGGGTTCAGGTGATTCTCCAGTCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCTTGGCTAGTTCTTGCAGTTTTAGTAGAGACGTGGCTTCACCATGTTGCCCAGGCTGGTCTCGAAGTGAGCTCAAAGCGATCTGCCTGCCTCAGCCTCCCGAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGACCGGTCCTGCAGCTCTTGCACGGCAGAGGCAGAACTTGAACCTGGGTCTATATTGGACCCT... | TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCGGGGTTCAGGTGATTCTCCAGTCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCTTGGCTAGTTCTTGCAGTTTTAGTAGAGACGTGGCTTCACCATGTTGCCCAGGCTGGTCTCGAAGTGAGCTCAAAGCGATCTGCCTGCCTCAGCCTCCCGAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGACCGGTCCTGCAGCTCTTGCACGGCAGAGGCAGAACTTGAACCTGGGTCTATATTGGACCCT... |
Task1_train_11855 | Here is a mutation in GNB2 (G protein subunit beta 2) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Sick sinus syndrome 4 | CTATATCCCTAGAGTCTGGGGGCTGCTGAGGGCCCTGGGGGGTGATGGGGACCGAGGGCTGAGAACGTCGCCCCCGCCCCCAGTTTCTTCCTCCAGCCGTGCTTCCTTCTGCCCTGGGCCTCCGGCGGTGCCGCCAGGCCTGGGCTGCTAGTAGGTGGAAGAGGCTTTGTGCGGGCCTGGGGGTTGGGTAGAGTAAGGAGTTCTGCCCGCACCCCCCATCCCCCGATTTTGAGGGTCACCCCTTGGCACTGGCGTAGAAAGCTGAACTTACAAGGAGGGGAAATGTCAGTGGGGAAGAGGAACGCCCTGCGCCTGGGGGA... | CTATATCCCTAGAGTCTGGGGGCTGCTGAGGGCCCTGGGGGGTGATGGGGACCGAGGGCTGAGAACGTCGCCCCCGCCCCCAGTTTCTTCCTCCAGCCGTGCTTCCTTCTGCCCTGGGCCTCCGGCGGTGCCGCCAGGCCTGGGCTGCTAGTAGGTGGAAGAGGCTTTGTGCGGGCCTGGGGGTTGGGTAGAGTAAGGAGTTCTGCCCGCACCCCCCATCCCCCGATTTTGAGGGTCACCCCTTGGCACTGGCGTAGAAAGCTGAACTTACAAGGAGGGGAAATGTCAGTGGGGAAGAGGAACGCCCTGCGCCTGGGGGA... |
Task1_train_11856 | A sequence alteration has been identified in GNB2 (G protein subunit beta 2) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Neurodevelopmental disorder with hypotonia and dysmorphic facies | GCTGCCTTCCCCGCCGCTGTCACCCCCACCCGCGGCGGACGGCTAATGGGGCGCAGCCGGACCGGGGATTATCCGGGGTGAGCCGTCCAGAACCTATTAGCGCCCAATCGGCTTTTCCCAAATCCTGTAAACAGCCACCCGGGCCGGTTCTGGGGAGGGCGGGAGGCTGGGTCGGGCGGGGGCGATGGGGCCGGGGGTGGGGTCACCCACCCTACAGGTCTCTGCCGTGGATGCGGTTGCCTTGGCAACGGGGCTAGGGTGGGGGCATTTCACCAATGAGGTGCTCTCGGTCCGGGTGACGGTTGCCTAGGCAACCCCAC... | GCTGCCTTCCCCGCCGCTGTCACCCCCACCCGCGGCGGACGGCTAATGGGGCGCAGCCGGACCGGGGATTATCCGGGGTGAGCCGTCCAGAACCTATTAGCGCCCAATCGGCTTTTCCCAAATCCTGTAAACAGCCACCCGGGCCGGTTCTGGGGAGGGCGGGAGGCTGGGTCGGGCGGGGGCGATGGGGCCGGGGGTGGGGTCACCCACCCTACAGGTCTCTGCCGTGGATGCGGTTGCCTTGGCAACGGGGCTAGGGTGGGGGCATTTCACCAATGAGGTGCTCTCGGTCCGGGTGACGGTTGCCTAGGCAACCCCAC... |
Task1_train_11857 | The variant affects gene GNB2 (G protein subunit beta 2), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Neurodevelopmental disorder with hypotonia and dysmorphic facies | CTGCCTTCCCCGCCGCTGTCACCCCCACCCGCGGCGGACGGCTAATGGGGCGCAGCCGGACCGGGGATTATCCGGGGTGAGCCGTCCAGAACCTATTAGCGCCCAATCGGCTTTTCCCAAATCCTGTAAACAGCCACCCGGGCCGGTTCTGGGGAGGGCGGGAGGCTGGGTCGGGCGGGGGCGATGGGGCCGGGGGTGGGGTCACCCACCCTACAGGTCTCTGCCGTGGATGCGGTTGCCTTGGCAACGGGGCTAGGGTGGGGGCATTTCACCAATGAGGTGCTCTCGGTCCGGGTGACGGTTGCCTAGGCAACCCCACG... | CTGCCTTCCCCGCCGCTGTCACCCCCACCCGCGGCGGACGGCTAATGGGGCGCAGCCGGACCGGGGATTATCCGGGGTGAGCCGTCCAGAACCTATTAGCGCCCAATCGGCTTTTCCCAAATCCTGTAAACAGCCACCCGGGCCGGTTCTGGGGAGGGCGGGAGGCTGGGTCGGGCGGGGGCGATGGGGCCGGGGGTGGGGTCACCCACCCTACAGGTCTCTGCCGTGGATGCGGTTGCCTTGGCAACGGGGCTAGGGTGGGGGCATTTCACCAATGAGGTGCTCTCGGTCCGGGTGACGGTTGCCTAGGCAACCCCACG... |
Task1_train_11858 | This variant lies on Chromosome 7 and affects the gene EPO (erythropoietin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Diamond-Blackfan anemia-like | CCCTGTTTGAGCGGGGATTTAGCGCCCCGGCTATTGGCCAGGAGGTGGCTGGGTTCAAGGACCGGCGACTTGTCAAGGACCCCGGAAGGGGGAGGGGGGTGGGGCAGCCTCCACGTGCCAGCGGGGACTTGGGGGAGTCCTTGGGGATGGCAAAAACCTGACCTGTGAAGGGGACACAGTTTGGGGGTTGAGGGGAAGAAGGTTTGGGGGTTCTGCTGTGCCAGTGGAGAGGAAGCTGATAAGCTGATAACCTGGGCGCTGGAGCCACCACTTATCTGCCAGAGGGGAAGCCTCTGTCACACCAGGATTGAAGTTTGGCC... | CCCTGTTTGAGCGGGGATTTAGCGCCCCGGCTATTGGCCAGGAGGTGGCTGGGTTCAAGGACCGGCGACTTGTCAAGGACCCCGGAAGGGGGAGGGGGGTGGGGCAGCCTCCACGTGCCAGCGGGGACTTGGGGGAGTCCTTGGGGATGGCAAAAACCTGACCTGTGAAGGGGACACAGTTTGGGGGTTGAGGGGAAGAAGGTTTGGGGGTTCTGCTGTGCCAGTGGAGAGGAAGCTGATAAGCTGATAACCTGGGCGCTGGAGCCACCACTTATCTGCCAGAGGGGAAGCCTCTGTCACACCAGGATTGAAGTTTGGCC... |
Task1_train_11859 | Here is a genetic alteration in EPHB4, LOC126860124 (EPH receptor B4| CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:100403701-100404900) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Arteriovenous malformation | ACACTGGCCAAGATTTTCTTCTGGTGTCCCGCCAGAGTGACTCCGATTCGGAGCAGGTCCCTGCAGAAGGAAAGGAGAGCTTGGTGAGACCCTAGGTTCCCTGTGGCCGCTCTCCTCTCTTGGCTCCTGAGACGGTCCTAGCCTCAGGATTGTAAGCCAATCAGAAAAGCCAGCGGGGGAGGGAGAACAGATGTCAACAGTTCCCGGGCAGTTTTTTTAAGAGCTGGGCAGCCATCCTTCTGTGCAACCGCAGAAGGGGGTAGGGCTGGAGGCCAGAGGCAGGGCCTTTGGCTTGGGTGCCAGGGAAGGAAAGAAAAGAG... | ACACTGGCCAAGATTTTCTTCTGGTGTCCCGCCAGAGTGACTCCGATTCGGAGCAGGTCCCTGCAGAAGGAAAGGAGAGCTTGGTGAGACCCTAGGTTCCCTGTGGCCGCTCTCCTCTCTTGGCTCCTGAGACGGTCCTAGCCTCAGGATTGTAAGCCAATCAGAAAAGCCAGCGGGGGAGGGAGAACAGATGTCAACAGTTCCCGGGCAGTTTTTTTAAGAGCTGGGCAGCCATCCTTCTGTGCAACCGCAGAAGGGGGTAGGGCTGGAGGCCAGAGGCAGGGCCTTTGGCTTGGGTGCCAGGGAAGGAAAGAAAAGAG... |
Task1_train_11860 | This variant impacts the gene EPHB4, LOC126860124 (EPH receptor B4| CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:100403701-100404900) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Lymphatic malformation 7 | CACCAAGTTGTCCACAATGGTCTCGAACTCCTAACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCATGCCCGGCCTTCAGATTTCTATTCCTTCTATTTCTGTTATTCAACCTGGGGTGAGAGGAGATCTTGGGAGAGGAACGGGAAGGCAGAAAGGGGGAGTAGCAGACAAAGGCCAAGTGGGGATACGCAGCCTTTGGGAGGCAAGGAATCATAAAACCATTTCACATAAAAGCTGAAGAGGATCTCCAAAACCTAGCCCAATCTTCTCCTTTTATGGTTGGAAAAAGA... | CACCAAGTTGTCCACAATGGTCTCGAACTCCTAACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCATGCCCGGCCTTCAGATTTCTATTCCTTCTATTTCTGTTATTCAACCTGGGGTGAGAGGAGATCTTGGGAGAGGAACGGGAAGGCAGAAAGGGGGAGTAGCAGACAAAGGCCAAGTGGGGATACGCAGCCTTTGGGAGGCAAGGAATCATAAAACCATTTCACATAAAAGCTGAAGAGGATCTCCAAAACCTAGCCCAATCTTCTCCTTTTATGGTTGGAAAAAGA... |
Task1_train_11861 | This mutation occurs in EPHB4 (EPH receptor B4) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Lymphatic malformation 7 | GGACACTTCTGGGCAAGGAGTGGGGGCAGAGAGCGGGAAGGAGGGCCCATTCTCTGCAGTCCTCACCCGCCATTCTCCCGGGCCACGATTTTGAGGCTGGCGGGGTTCCGGATCATCTTGTCCAGGGCGCTGACCACCTGGGGGAAGCGGGGCCGGGCATTCCGGTCTTTCTGCCAACAGTCCAGCATGAGCTGGTGGAGGGAGGTGGGACAGTCTGGGGGCGGGGGCAGCCGGTAGTCCTGTTCAATGGCATTGATCACCTGGAAAGAGGGGAAGAAGCTCTGGGTGAGGCTGTCCAGGAAAAGCAAAGATGCTAACAG... | GGACACTTCTGGGCAAGGAGTGGGGGCAGAGAGCGGGAAGGAGGGCCCATTCTCTGCAGTCCTCACCCGCCATTCTCCCGGGCCACGATTTTGAGGCTGGCGGGGTTCCGGATCATCTTGTCCAGGGCGCTGACCACCTGGGGGAAGCGGGGCCGGGCATTCCGGTCTTTCTGCCAACAGTCCAGCATGAGCTGGTGGAGGGAGGTGGGACAGTCTGGGGGCGGGGGCAGCCGGTAGTCCTGTTCAATGGCATTGATCACCTGGAAAGAGGGGAAGAAGCTCTGGGTGAGGCTGTCCAGGAAAAGCAAAGATGCTAACAG... |
Task1_train_11862 | This alteration occurs within gene EPHB4 (EPH receptor B4) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Hereditary lymphedema type I | TGGTTGGAATAAAGCAGCAGTGAAGGACATCTTTAGAACAACTAGAGAAACGTGAAAATCAACTGGGTATTCAATGACGCTAGGGAATCGCTATAACTCTGTTCAATGCAATGTTATTTTGCTACATAGAAAAATGTTTTGATTTTTTTAAAAAGATGCCTAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGAGGGGCCGAGATGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGATGAAACCCTGTCTCTACTAAAAATACAAACATCAGCTGGGTATGGTGGTGCATGCC... | TGGTTGGAATAAAGCAGCAGTGAAGGACATCTTTAGAACAACTAGAGAAACGTGAAAATCAACTGGGTATTCAATGACGCTAGGGAATCGCTATAACTCTGTTCAATGCAATGTTATTTTGCTACATAGAAAAATGTTTTGATTTTTTTAAAAAGATGCCTAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGAGGGGCCGAGATGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGATGAAACCCTGTCTCTACTAAAAATACAAACATCAGCTGGGTATGGTGGTGCATGCC... |
Task1_train_11863 | Gene EPHB4, SLC12A9 (EPH receptor B4| solute carrier family 12 member 9) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Capillary malformation-arteriovenous malformation 2 | CTCGGATCATCGGGGGAGGGGACAGGCACTGGAGGAAGGGGGGGGATTAGGAAAAACTGCACAGCCCCTGGCAGTGGAGAGTGGAGGAGGGAGGGTACAGGAATCCCCTCGGGGGCCGGCAATGTGGGGGGCATTGGGCGCTGGGAAGGGTGGAGAGGGGAGCCAGAACACCTGGCTCCCACCCCATGGGAGCTGCAGGAGAGAAGAGAAAGAGGGTGGGTGAGGCAGCCTCTTCCTGGGGACCAAATGATGTCCTCCAGCTAGGGGTCAGATGGGAAGCCAGCCAGCCTGAGGTGAGAGGCGCAAGGTCCCCATGGGTG... | CTCGGATCATCGGGGGAGGGGACAGGCACTGGAGGAAGGGGGGGGATTAGGAAAAACTGCACAGCCCCTGGCAGTGGAGAGTGGAGGAGGGAGGGTACAGGAATCCCCTCGGGGGCCGGCAATGTGGGGGGCATTGGGCGCTGGGAAGGGTGGAGAGGGGAGCCAGAACACCTGGCTCCCACCCCATGGGAGCTGCAGGAGAGAAGAGAAAGAGGGTGGGTGAGGCAGCCTCTTCCTGGGGACCAAATGATGTCCTCCAGCTAGGGGTCAGATGGGAAGCCAGCCAGCCTGAGGTGAGAGGCGCAAGGTCCCCATGGGTG... |
Task1_train_11864 | This sequence variant lies in PMPCB (peptidase, mitochondrial processing subunit beta) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Multiple mitochondrial dysfunctions syndrome 6 | GTTACATATGTATTCATGTGCCGTGTTGGTGTGCTGCACCCGTTAACTCGTCATTTACATTAGGTATATCTCCTAACGCTATCCCTCCCTGCTCCCACCACCCCACGACAGGCTCCGGTGTGTGATGTTCCCACCTCGTGTCCAAGTGTTCTCATTGTTCAATTCCCACCTATAAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTCAGAATGATGGTTTCCAGCTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTTTATGGATGCATAGTATTCCATGGTGTATATGTGCCACAT... | GTTACATATGTATTCATGTGCCGTGTTGGTGTGCTGCACCCGTTAACTCGTCATTTACATTAGGTATATCTCCTAACGCTATCCCTCCCTGCTCCCACCACCCCACGACAGGCTCCGGTGTGTGATGTTCCCACCTCGTGTCCAAGTGTTCTCATTGTTCAATTCCCACCTATAAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTCAGAATGATGGTTTCCAGCTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTTTATGGATGCATAGTATTCCATGGTGTATATGTGCCACAT... |
Task1_train_11865 | This sequence variant lies in PMPCB (peptidase, mitochondrial processing subunit beta) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Multiple mitochondrial dysfunctions syndrome 6 | TATGTATTCATGTGCCGTGTTGGTGTGCTGCACCCGTTAACTCGTCATTTACATTAGGTATATCTCCTAACGCTATCCCTCCCTGCTCCCACCACCCCACGACAGGCTCCGGTGTGTGATGTTCCCACCTCGTGTCCAAGTGTTCTCATTGTTCAATTCCCACCTATAAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTCAGAATGATGGTTTCCAGCTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTTTATGGATGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT... | TATGTATTCATGTGCCGTGTTGGTGTGCTGCACCCGTTAACTCGTCATTTACATTAGGTATATCTCCTAACGCTATCCCTCCCTGCTCCCACCACCCCACGACAGGCTCCGGTGTGTGATGTTCCCACCTCGTGTCCAAGTGTTCTCATTGTTCAATTCCCACCTATAAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTCAGAATGATGGTTTCCAGCTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTTTATGGATGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT... |
Task1_train_11866 | A genomic change on Chromosome 7 affects PMPCB (peptidase, mitochondrial processing subunit beta). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Multiple mitochondrial dysfunctions syndrome 6 | CAGTTGAAAAAACTTGTATAAAGAGAATAAAGCAAACATGGTAAAATAACAGGGAATCTAGATAAATGAAATTCTCTGTACTGTTTTTGCAACTTTTTTGTAAGTTGGAATTATTTCAAAACACATTGTATAGATTTGTCTTTACTCATAGATTTCTCCAAAATACATTTCATCTAAATAATCTTAAGCTTCATATGCAATATAACTTTGAATCTTTAAGCGTATGTAGCCAAGAGTCCTAGAAATTGGGTTGATAATAGCCATCTAGTTTTAGAAGTAGGTATAGCTACTACATTAATTATAAGGACTCATTGCTTTTA... | CAGTTGAAAAAACTTGTATAAAGAGAATAAAGCAAACATGGTAAAATAACAGGGAATCTAGATAAATGAAATTCTCTGTACTGTTTTTGCAACTTTTTTGTAAGTTGGAATTATTTCAAAACACATTGTATAGATTTGTCTTTACTCATAGATTTCTCCAAAATACATTTCATCTAAATAATCTTAAGCTTCATATGCAATATAACTTTGAATCTTTAAGCGTATGTAGCCAAGAGTCCTAGAAATTGGGTTGATAATAGCCATCTAGTTTTAGAAGTAGGTATAGCTACTACATTAATTATAAGGACTCATTGCTTTTA... |
Task1_train_11867 | This genomic variant is located on Chromosome 7, within the SLC26A5 (solute carrier family 26 member 5) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 61 | GTGGGTAAGTAGCTAGAAAATCAACCACTGGTTATACAGAAAACAATGGAAGGTCTGGAGTGGCTTGGTGCCCCACAGTGCGCTGACCACACTAATGCCTTCCCTGTCTCTCATTGAGCTGGGGGCATGCTTCATCATGTAGACTAAAGTGCATGATCATGATCACTGGCTGTTTCTTCCAAGCAGAGAGGAATGTCCTCTCCCAGCACTAACCAATCCTGCCGTGTCAAACTTGTCTTGCTTTTGGGATCTTTAAAACACCCACCTGAAGCTTGCTTGCTCGTCACTCATAGTTGTGAATATGGCATGCAGTTGGTCTG... | GTGGGTAAGTAGCTAGAAAATCAACCACTGGTTATACAGAAAACAATGGAAGGTCTGGAGTGGCTTGGTGCCCCACAGTGCGCTGACCACACTAATGCCTTCCCTGTCTCTCATTGAGCTGGGGGCATGCTTCATCATGTAGACTAAAGTGCATGATCATGATCACTGGCTGTTTCTTCCAAGCAGAGAGGAATGTCCTCTCCCAGCACTAACCAATCCTGCCGTGTCAAACTTGTCTTGCTTTTGGGATCTTTAAAACACCCACCTGAAGCTTGCTTGCTCGTCACTCATAGTTGTGAATATGGCATGCAGTTGGTCTG... |
Task1_train_11868 | With a mutation on Chromosome 7 in gene LOC126860130, RELN, SLC26A5-AS1 (BRD4-independent group 4 enhancer GRCh37_chr7:103130126-103131325| reelin| SLC26A5 antisense RNA 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Familial temporal lobe epilepsy 7 | AGCAAGGCTGATTGGAAAGAACAACTTGACTAGTGGTCTTTCTGATATATGCTGGCTGTGTGACCTTAGGCAGGTCATTTAGCCTCCCTGAGTCTCAGTTTCTTTGCCTGTAGCATGGGAATAATTATATTAACCATAGATAACTGATGGGGATATCATAGATAATAAGCGACTGAAGAATAAGTTGGTGTATACTATGTAAATAGTAAAGCATAAGACAGTGTTAAGGATTAATTCAAAGAAGATTTATTAGCATTGCTATCGGCCAGGTATTAAGCTATGAGGATATAGAATGTTAACTATGGAAAGCGAACTTTGTA... | AGCAAGGCTGATTGGAAAGAACAACTTGACTAGTGGTCTTTCTGATATATGCTGGCTGTGTGACCTTAGGCAGGTCATTTAGCCTCCCTGAGTCTCAGTTTCTTTGCCTGTAGCATGGGAATAATTATATTAACCATAGATAACTGATGGGGATATCATAGATAATAAGCGACTGAAGAATAAGTTGGTGTATACTATGTAAATAGTAAAGCATAAGACAGTGTTAAGGATTAATTCAAAGAAGATTTATTAGCATTGCTATCGGCCAGGTATTAAGCTATGAGGATATAGAATGTTAACTATGGAAAGCGAACTTTGTA... |
Task1_train_11869 | This gene mutation involves RELN, SLC26A5-AS1 (reelin| SLC26A5 antisense RNA 1) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Familial temporal lobe epilepsy 7 | TTATTGAAATTTCAGAATATCTGAGCACACTTGCACAACAAAATTAAATCAGTGGAATCTCTGTGTCAAGAAATAAATAGAAATATTTAAATACACAAATCTGTAACTTTCATAAATCAGGTTTCTTCTGAATTGGAGTTCCGTGGTCATGATGCAATTTAGATTCACTAATTGCATTTCTGAAATTGTACAGAAGGTGAGTGACGCCTTTGACAAGAGCCTTGTCAGCATACACACAGCCCTCAGGCGGTCGGGAGGCAGCATTTTCTGAATTCCCTGAAGACAATCAATATTCTCAGAGTAACTATGCTAATTAGAAA... | TTATTGAAATTTCAGAATATCTGAGCACACTTGCACAACAAAATTAAATCAGTGGAATCTCTGTGTCAAGAAATAAATAGAAATATTTAAATACACAAATCTGTAACTTTCATAAATCAGGTTTCTTCTGAATTGGAGTTCCGTGGTCATGATGCAATTTAGATTCACTAATTGCATTTCTGAAATTGTACAGAAGGTGAGTGACGCCTTTGACAAGAGCCTTGTCAGCATACACACAGCCCTCAGGCGGTCGGGAGGCAGCATTTTCTGAATTCCCTGAAGACAATCAATATTCTCAGAGTAACTATGCTAATTAGAAA... |
Task1_train_11870 | A mutation found in RELN (reelin) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Sacroiliac arthritis | TATAAAATTTCCCAAAGAAAGTTTCCAAGCTTGCTGCTGTCACTCACAAGATAATATGCTACACATACAAATATCTAGTAATTTCTAATAATTATTCTTTCCTGGACAACCTATAAAAATAATTCATTGTTCTTAATAAATTCAGGAACCATCACAGCTCATTTTCCAGATTTTTGGCTCCTTAAATCCAAAATCTGTTGCAAGCTCAGGAGTTGTCAATTAGAAGGGCTCCATGCAGATGGAAGATTGCACAAGTGCTCTTTTCCAAGATGAACATTCACTTACATTCTTTTGTAATATGTACTTAAATATGACCTGTG... | TATAAAATTTCCCAAAGAAAGTTTCCAAGCTTGCTGCTGTCACTCACAAGATAATATGCTACACATACAAATATCTAGTAATTTCTAATAATTATTCTTTCCTGGACAACCTATAAAAATAATTCATTGTTCTTAATAAATTCAGGAACCATCACAGCTCATTTTCCAGATTTTTGGCTCCTTAAATCCAAAATCTGTTGCAAGCTCAGGAGTTGTCAATTAGAAGGGCTCCATGCAGATGGAAGATTGCACAAGTGCTCTTTTCCAAGATGAACATTCACTTACATTCTTTTGTAATATGTACTTAAATATGACCTGTG... |
Task1_train_11871 | A genetic alteration is present in RELN (reelin) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Kyphosis | TATAAAATTTCCCAAAGAAAGTTTCCAAGCTTGCTGCTGTCACTCACAAGATAATATGCTACACATACAAATATCTAGTAATTTCTAATAATTATTCTTTCCTGGACAACCTATAAAAATAATTCATTGTTCTTAATAAATTCAGGAACCATCACAGCTCATTTTCCAGATTTTTGGCTCCTTAAATCCAAAATCTGTTGCAAGCTCAGGAGTTGTCAATTAGAAGGGCTCCATGCAGATGGAAGATTGCACAAGTGCTCTTTTCCAAGATGAACATTCACTTACATTCTTTTGTAATATGTACTTAAATATGACCTGTG... | TATAAAATTTCCCAAAGAAAGTTTCCAAGCTTGCTGCTGTCACTCACAAGATAATATGCTACACATACAAATATCTAGTAATTTCTAATAATTATTCTTTCCTGGACAACCTATAAAAATAATTCATTGTTCTTAATAAATTCAGGAACCATCACAGCTCATTTTCCAGATTTTTGGCTCCTTAAATCCAAAATCTGTTGCAAGCTCAGGAGTTGTCAATTAGAAGGGCTCCATGCAGATGGAAGATTGCACAAGTGCTCTTTTCCAAGATGAACATTCACTTACATTCTTTTGTAATATGTACTTAAATATGACCTGTG... |
Task1_train_11872 | Consider a variant on Chromosome 7 in gene RELN (reelin). Determine its clinical classification and disease relevance. | Pathogenic; Low back pain | TATAAAATTTCCCAAAGAAAGTTTCCAAGCTTGCTGCTGTCACTCACAAGATAATATGCTACACATACAAATATCTAGTAATTTCTAATAATTATTCTTTCCTGGACAACCTATAAAAATAATTCATTGTTCTTAATAAATTCAGGAACCATCACAGCTCATTTTCCAGATTTTTGGCTCCTTAAATCCAAAATCTGTTGCAAGCTCAGGAGTTGTCAATTAGAAGGGCTCCATGCAGATGGAAGATTGCACAAGTGCTCTTTTCCAAGATGAACATTCACTTACATTCTTTTGTAATATGTACTTAAATATGACCTGTG... | TATAAAATTTCCCAAAGAAAGTTTCCAAGCTTGCTGCTGTCACTCACAAGATAATATGCTACACATACAAATATCTAGTAATTTCTAATAATTATTCTTTCCTGGACAACCTATAAAAATAATTCATTGTTCTTAATAAATTCAGGAACCATCACAGCTCATTTTCCAGATTTTTGGCTCCTTAAATCCAAAATCTGTTGCAAGCTCAGGAGTTGTCAATTAGAAGGGCTCCATGCAGATGGAAGATTGCACAAGTGCTCTTTTCCAAGATGAACATTCACTTACATTCTTTTGTAATATGTACTTAAATATGACCTGTG... |
Task1_train_11873 | A genetic alteration is present in RELN (reelin) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Sacroiliac joint synovitis | TATAAAATTTCCCAAAGAAAGTTTCCAAGCTTGCTGCTGTCACTCACAAGATAATATGCTACACATACAAATATCTAGTAATTTCTAATAATTATTCTTTCCTGGACAACCTATAAAAATAATTCATTGTTCTTAATAAATTCAGGAACCATCACAGCTCATTTTCCAGATTTTTGGCTCCTTAAATCCAAAATCTGTTGCAAGCTCAGGAGTTGTCAATTAGAAGGGCTCCATGCAGATGGAAGATTGCACAAGTGCTCTTTTCCAAGATGAACATTCACTTACATTCTTTTGTAATATGTACTTAAATATGACCTGTG... | TATAAAATTTCCCAAAGAAAGTTTCCAAGCTTGCTGCTGTCACTCACAAGATAATATGCTACACATACAAATATCTAGTAATTTCTAATAATTATTCTTTCCTGGACAACCTATAAAAATAATTCATTGTTCTTAATAAATTCAGGAACCATCACAGCTCATTTTCCAGATTTTTGGCTCCTTAAATCCAAAATCTGTTGCAAGCTCAGGAGTTGTCAATTAGAAGGGCTCCATGCAGATGGAAGATTGCACAAGTGCTCTTTTCCAAGATGAACATTCACTTACATTCTTTTGTAATATGTACTTAAATATGACCTGTG... |
Task1_train_11874 | Located on Chromosome 7, this mutation impacts RELN (reelin). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Enthesitis | TATAAAATTTCCCAAAGAAAGTTTCCAAGCTTGCTGCTGTCACTCACAAGATAATATGCTACACATACAAATATCTAGTAATTTCTAATAATTATTCTTTCCTGGACAACCTATAAAAATAATTCATTGTTCTTAATAAATTCAGGAACCATCACAGCTCATTTTCCAGATTTTTGGCTCCTTAAATCCAAAATCTGTTGCAAGCTCAGGAGTTGTCAATTAGAAGGGCTCCATGCAGATGGAAGATTGCACAAGTGCTCTTTTCCAAGATGAACATTCACTTACATTCTTTTGTAATATGTACTTAAATATGACCTGTG... | TATAAAATTTCCCAAAGAAAGTTTCCAAGCTTGCTGCTGTCACTCACAAGATAATATGCTACACATACAAATATCTAGTAATTTCTAATAATTATTCTTTCCTGGACAACCTATAAAAATAATTCATTGTTCTTAATAAATTCAGGAACCATCACAGCTCATTTTCCAGATTTTTGGCTCCTTAAATCCAAAATCTGTTGCAAGCTCAGGAGTTGTCAATTAGAAGGGCTCCATGCAGATGGAAGATTGCACAAGTGCTCTTTTCCAAGATGAACATTCACTTACATTCTTTTGTAATATGTACTTAAATATGACCTGTG... |
Task1_train_11875 | This alteration in RELN (reelin) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Synovitis | TATAAAATTTCCCAAAGAAAGTTTCCAAGCTTGCTGCTGTCACTCACAAGATAATATGCTACACATACAAATATCTAGTAATTTCTAATAATTATTCTTTCCTGGACAACCTATAAAAATAATTCATTGTTCTTAATAAATTCAGGAACCATCACAGCTCATTTTCCAGATTTTTGGCTCCTTAAATCCAAAATCTGTTGCAAGCTCAGGAGTTGTCAATTAGAAGGGCTCCATGCAGATGGAAGATTGCACAAGTGCTCTTTTCCAAGATGAACATTCACTTACATTCTTTTGTAATATGTACTTAAATATGACCTGTG... | TATAAAATTTCCCAAAGAAAGTTTCCAAGCTTGCTGCTGTCACTCACAAGATAATATGCTACACATACAAATATCTAGTAATTTCTAATAATTATTCTTTCCTGGACAACCTATAAAAATAATTCATTGTTCTTAATAAATTCAGGAACCATCACAGCTCATTTTCCAGATTTTTGGCTCCTTAAATCCAAAATCTGTTGCAAGCTCAGGAGTTGTCAATTAGAAGGGCTCCATGCAGATGGAAGATTGCACAAGTGCTCTTTTCCAAGATGAACATTCACTTACATTCTTTTGTAATATGTACTTAAATATGACCTGTG... |
Task1_train_11876 | A mutation in RELN (reelin), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Scoliosis | TATAAAATTTCCCAAAGAAAGTTTCCAAGCTTGCTGCTGTCACTCACAAGATAATATGCTACACATACAAATATCTAGTAATTTCTAATAATTATTCTTTCCTGGACAACCTATAAAAATAATTCATTGTTCTTAATAAATTCAGGAACCATCACAGCTCATTTTCCAGATTTTTGGCTCCTTAAATCCAAAATCTGTTGCAAGCTCAGGAGTTGTCAATTAGAAGGGCTCCATGCAGATGGAAGATTGCACAAGTGCTCTTTTCCAAGATGAACATTCACTTACATTCTTTTGTAATATGTACTTAAATATGACCTGTG... | TATAAAATTTCCCAAAGAAAGTTTCCAAGCTTGCTGCTGTCACTCACAAGATAATATGCTACACATACAAATATCTAGTAATTTCTAATAATTATTCTTTCCTGGACAACCTATAAAAATAATTCATTGTTCTTAATAAATTCAGGAACCATCACAGCTCATTTTCCAGATTTTTGGCTCCTTAAATCCAAAATCTGTTGCAAGCTCAGGAGTTGTCAATTAGAAGGGCTCCATGCAGATGGAAGATTGCACAAGTGCTCTTTTCCAAGATGAACATTCACTTACATTCTTTTGTAATATGTACTTAAATATGACCTGTG... |
Task1_train_11877 | This variant impacts the gene RELN (reelin) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Arthritis | TATAAAATTTCCCAAAGAAAGTTTCCAAGCTTGCTGCTGTCACTCACAAGATAATATGCTACACATACAAATATCTAGTAATTTCTAATAATTATTCTTTCCTGGACAACCTATAAAAATAATTCATTGTTCTTAATAAATTCAGGAACCATCACAGCTCATTTTCCAGATTTTTGGCTCCTTAAATCCAAAATCTGTTGCAAGCTCAGGAGTTGTCAATTAGAAGGGCTCCATGCAGATGGAAGATTGCACAAGTGCTCTTTTCCAAGATGAACATTCACTTACATTCTTTTGTAATATGTACTTAAATATGACCTGTG... | TATAAAATTTCCCAAAGAAAGTTTCCAAGCTTGCTGCTGTCACTCACAAGATAATATGCTACACATACAAATATCTAGTAATTTCTAATAATTATTCTTTCCTGGACAACCTATAAAAATAATTCATTGTTCTTAATAAATTCAGGAACCATCACAGCTCATTTTCCAGATTTTTGGCTCCTTAAATCCAAAATCTGTTGCAAGCTCAGGAGTTGTCAATTAGAAGGGCTCCATGCAGATGGAAGATTGCACAAGTGCTCTTTTCCAAGATGAACATTCACTTACATTCTTTTGTAATATGTACTTAAATATGACCTGTG... |
Task1_train_11878 | The following genetic variant occurs in RELN (reelin) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Inflammation of the large intestine | TATAAAATTTCCCAAAGAAAGTTTCCAAGCTTGCTGCTGTCACTCACAAGATAATATGCTACACATACAAATATCTAGTAATTTCTAATAATTATTCTTTCCTGGACAACCTATAAAAATAATTCATTGTTCTTAATAAATTCAGGAACCATCACAGCTCATTTTCCAGATTTTTGGCTCCTTAAATCCAAAATCTGTTGCAAGCTCAGGAGTTGTCAATTAGAAGGGCTCCATGCAGATGGAAGATTGCACAAGTGCTCTTTTCCAAGATGAACATTCACTTACATTCTTTTGTAATATGTACTTAAATATGACCTGTG... | TATAAAATTTCCCAAAGAAAGTTTCCAAGCTTGCTGCTGTCACTCACAAGATAATATGCTACACATACAAATATCTAGTAATTTCTAATAATTATTCTTTCCTGGACAACCTATAAAAATAATTCATTGTTCTTAATAAATTCAGGAACCATCACAGCTCATTTTCCAGATTTTTGGCTCCTTAAATCCAAAATCTGTTGCAAGCTCAGGAGTTGTCAATTAGAAGGGCTCCATGCAGATGGAAGATTGCACAAGTGCTCTTTTCCAAGATGAACATTCACTTACATTCTTTTGTAATATGTACTTAAATATGACCTGTG... |
Task1_train_11879 | This sequence change occurs on Chromosome 7, altering RELN (reelin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Self-limited epilepsy with centrotemporal spikes | AAATAATGCCCTGATACGTAATTGCATTTATTTGTTTATTTAATACAGAAGAAAAATATTCTATGATCAATAATACTCCATGTTTTCTTAATGTTTTTCATATCTTCTATGTTGATCTGGAGATACTGTGGGAATATATAGGAAACTAGGGAAATCACCCTTTATACTGCTATAGTATTTGATTCAGTGATTTAGACCAGGTGTTTAAGGAATATGTTAGAGTAGATAATAACGGCAAAAGCCAGGCTGCTTTTGTAAAGCACTGTTTGGACTGACCTTGAAAAAAGGTGATAAGTCCATGCCAAGCAGGAACGTCAAGA... | AAATAATGCCCTGATACGTAATTGCATTTATTTGTTTATTTAATACAGAAGAAAAATATTCTATGATCAATAATACTCCATGTTTTCTTAATGTTTTTCATATCTTCTATGTTGATCTGGAGATACTGTGGGAATATATAGGAAACTAGGGAAATCACCCTTTATACTGCTATAGTATTTGATTCAGTGATTTAGACCAGGTGTTTAAGGAATATGTTAGAGTAGATAATAACGGCAAAAGCCAGGCTGCTTTTGTAAAGCACTGTTTGGACTGACCTTGAAAAAAGGTGATAAGTCCATGCCAAGCAGGAACGTCAAGA... |
Task1_train_11880 | This mutation is located in gene RELN (reelin) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Familial temporal lobe epilepsy 7 | GGAAGAATCTCATGGACAGAGATAAATATATATATATATATAGAAAATTAAGGCGTTTTTGCTACCATTACCACGTTCTCCTTTTAAAAAAACTCCACTTTGATCTTAATCTTTCAAGCCATGCACATATCTAATACTGAAAAGCTACCTTGATTCTTAGAAGAAAAATGTTGCTGTCAAATGGCAGGCAAGATTAAACGCGCCTTTGCAATAGCACATTAAATGTGTAATTATTTTTCATATCAACAAAGATTAATTAAATTTCATGATATAGATTGATTACTGAATTTTGCAGCTGTCCATCTTTCTTAGAAAAAATT... | GGAAGAATCTCATGGACAGAGATAAATATATATATATATATAGAAAATTAAGGCGTTTTTGCTACCATTACCACGTTCTCCTTTTAAAAAAACTCCACTTTGATCTTAATCTTTCAAGCCATGCACATATCTAATACTGAAAAGCTACCTTGATTCTTAGAAGAAAAATGTTGCTGTCAAATGGCAGGCAAGATTAAACGCGCCTTTGCAATAGCACATTAAATGTGTAATTATTTTTCATATCAACAAAGATTAATTAAATTTCATGATATAGATTGATTACTGAATTTTGCAGCTGTCCATCTTTCTTAGAAAAAATT... |
Task1_train_11881 | An alteration has been detected in RELN (reelin) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Familial temporal lobe epilepsy 7 | TGCAAACTTTCGTGTCCAAATCCTTCTGTCTTTCTCATCTCCTCATGATTAAAATATACTTCCAGGAAGTGAAGTGGAATGTTACTCCATTTATATGTGACTGTGAATGTAAGCCACAGTATCAACTACTCTGATGGAATTTTAACTTTAAACCTTAATTTTAAGCTTTCCCCATCCTCCTCATCCCTTGATATTTTTAAAGGAATTTCAGTGAGTAGCTCAATAAGTTTTAGGAGTGGAAAGGATCTTTTAGACACACCTAAAATTGTACCACTAATGGTGTTACTATTCTGCCAACATTGAAAGATAGCCCAGCTTCA... | TGCAAACTTTCGTGTCCAAATCCTTCTGTCTTTCTCATCTCCTCATGATTAAAATATACTTCCAGGAAGTGAAGTGGAATGTTACTCCATTTATATGTGACTGTGAATGTAAGCCACAGTATCAACTACTCTGATGGAATTTTAACTTTAAACCTTAATTTTAAGCTTTCCCCATCCTCCTCATCCCTTGATATTTTTAAAGGAATTTCAGTGAGTAGCTCAATAAGTTTTAGGAGTGGAAAGGATCTTTTAGACACACCTAAAATTGTACCACTAATGGTGTTACTATTCTGCCAACATTGAAAGATAGCCCAGCTTCA... |
Task1_train_11882 | An alteration has been detected in RINT1 (RAD50 interactor 1) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Infantile liver failure syndrome 3 | AGATAGGGTTTTGCCGTATTGCCTAGGCACGTCTCAAATTCCTGTGAAGTGGCCCAAGTGATTAGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGATTCACTATCATCATGCCTGGCTTTTTGTGCATTTTAACTGAATGTATATTCAATATAAAGAATTAACTGTATGTTTATTCAATATAAAATTAGGTTACATATTATTTGCATCATAATTAACTCTACTGAGTATCTGATACATTTGTTGGAAAAATTTATTGTGTGTGTATACATACATATGTGTGTGTATATTAGGTATGCTTTTGATTCTTTTT... | AGATAGGGTTTTGCCGTATTGCCTAGGCACGTCTCAAATTCCTGTGAAGTGGCCCAAGTGATTAGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGATTCACTATCATCATGCCTGGCTTTTTGTGCATTTTAACTGAATGTATATTCAATATAAAGAATTAACTGTATGTTTATTCAATATAAAATTAGGTTACATATTATTTGCATCATAATTAACTCTACTGAGTATCTGATACATTTGTTGGAAAAATTTATTGTGTGTGTATACATACATATGTGTGTGTATATTAGGTATGCTTTTGATTCTTTTT... |
Task1_train_11883 | An alteration has been detected in RINT1 (RAD50 interactor 1) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Fulminant hepatic failure | AGATAGGGTTTTGCCGTATTGCCTAGGCACGTCTCAAATTCCTGTGAAGTGGCCCAAGTGATTAGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGATTCACTATCATCATGCCTGGCTTTTTGTGCATTTTAACTGAATGTATATTCAATATAAAGAATTAACTGTATGTTTATTCAATATAAAATTAGGTTACATATTATTTGCATCATAATTAACTCTACTGAGTATCTGATACATTTGTTGGAAAAATTTATTGTGTGTGTATACATACATATGTGTGTGTATATTAGGTATGCTTTTGATTCTTTTT... | AGATAGGGTTTTGCCGTATTGCCTAGGCACGTCTCAAATTCCTGTGAAGTGGCCCAAGTGATTAGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGATTCACTATCATCATGCCTGGCTTTTTGTGCATTTTAACTGAATGTATATTCAATATAAAGAATTAACTGTATGTTTATTCAATATAAAATTAGGTTACATATTATTTGCATCATAATTAACTCTACTGAGTATCTGATACATTTGTTGGAAAAATTTATTGTGTGTGTATACATACATATGTGTGTGTATATTAGGTATGCTTTTGATTCTTTTT... |
Task1_train_11884 | A variant affecting Chromosome 7, within the gene PIK3CG (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Immunodeficiency 97 with autoinflammation | ACGGCAGCCAGGCTTCATATTCCTACAAGTGCATGCTTCAAGATTACTGTACTTACAGTGTTTCCAACATCTTCTCATAAAAGGGGAAAGCTTCATAGCCTCAACCATGAAGGAAACCAGTGAGTATTAGTCAGCCTGTTTTCCTCTGCATCTTATAAGATCGTTTGGTATCACTGAGGCAGAAGTTATTGCTGTGTATTTATATGCTGCCTAAATTTGGACATGTTTTATTTCAAGTTAGTGTCAATATCAATGTATCTTACAGTTCTCTTCTTTGTTAGTTATTCTATAATGTAGCAAAAGACCAAAATGAATGTTTT... | ACGGCAGCCAGGCTTCATATTCCTACAAGTGCATGCTTCAAGATTACTGTACTTACAGTGTTTCCAACATCTTCTCATAAAAGGGGAAAGCTTCATAGCCTCAACCATGAAGGAAACCAGTGAGTATTAGTCAGCCTGTTTTCCTCTGCATCTTATAAGATCGTTTGGTATCACTGAGGCAGAAGTTATTGCTGTGTATTTATATGCTGCCTAAATTTGGACATGTTTTATTTCAAGTTAGTGTCAATATCAATGTATCTTACAGTTCTCTTCTTTGTTAGTTATTCTATAATGTAGCAAAAGACCAAAATGAATGTTTT... |
Task1_train_11885 | An alteration has been detected in PIK3CG (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Immunodeficiency 97 with autoinflammation | TATCATATTTATATACTTAAGTATGTCTCTGAACTTTCCCTTCTGTTCCACAAAATTCCTTGTCTTTTTGGGAGAAGACTACTTACTGGTTCGCACTGTTTTTAATAATGTAGTTTTATAAAATGGTTTAATATCTGGTTTGGCAAGTACTACTTTTCATTATTATACTTTTTCAAAATGTTCTCTCAGGCCCTAATTATTTCAGATGAACTTTAAACCATATCTGAGTTTAAACACCCAATAAGAATTTGTATTGAAATTTTATGTTTATAGATTAATCTAAGAATAATTTATATCATTATAAGCAGTCTTGTCACTGA... | TATCATATTTATATACTTAAGTATGTCTCTGAACTTTCCCTTCTGTTCCACAAAATTCCTTGTCTTTTTGGGAGAAGACTACTTACTGGTTCGCACTGTTTTTAATAATGTAGTTTTATAAAATGGTTTAATATCTGGTTTGGCAAGTACTACTTTTCATTATTATACTTTTTCAAAATGTTCTCTCAGGCCCTAATTATTTCAGATGAACTTTAAACCATATCTGAGTTTAAACACCCAATAAGAATTTGTATTGAAATTTTATGTTTATAGATTAATCTAAGAATAATTTATATCATTATAAGCAGTCTTGTCACTGA... |
Task1_train_11886 | This genomic variant is located on Chromosome 7, within the PIK3CG (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Immunodeficiency 97 with autoinflammation | CTAATTATTTCAGATGAACTTTAAACCATATCTGAGTTTAAACACCCAATAAGAATTTGTATTGAAATTTTATGTTTATAGATTAATCTAAGAATAATTTATATCATTATAAGCAGTCTTGTCACTGAGGGATGTTCAAAAACTGACTCATTGCTCTTCAGAGATTAAAGTTTTATAATTTTTTAAGAGTATAAAAATTATAAATTATAAAAATTATAAAAGCATAGGTTCTACATGTTTTATGTGTTCATCCTAGGAATCATGTTATTGTTGTTACCATTGATTTTAGCATCTGTTTTTGCATTTTACTTTCCAACTTG... | CTAATTATTTCAGATGAACTTTAAACCATATCTGAGTTTAAACACCCAATAAGAATTTGTATTGAAATTTTATGTTTATAGATTAATCTAAGAATAATTTATATCATTATAAGCAGTCTTGTCACTGAGGGATGTTCAAAAACTGACTCATTGCTCTTCAGAGATTAAAGTTTTATAATTTTTTAAGAGTATAAAAATTATAAATTATAAAAATTATAAAAGCATAGGTTCTACATGTTTTATGTGTTCATCCTAGGAATCATGTTATTGTTGTTACCATTGATTTTAGCATCTGTTTTTGCATTTTACTTTCCAACTTG... |
Task1_train_11887 | A genetic alteration is present in COG5 (component of oligomeric golgi complex 5) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; COG5-congenital disorder of glycosylation | CAGGACCCATAAGGGAACATATTAAAATAAAAAACAAAAACAAGCCTCTCTCCTACAGCACTCTCGTTTTGGCCATCTCCTGCTCGGCTGCCACTCTAATTGGACTTGAAGTGCTGCCTCCAGGAAAGTGACTCAAGAACCAGCTGGAGCAGAATGCAAATAAGCTGGTAGGGGAGAGAGCCCAGGGAAAGAAGATGAAACAAAAAGAAAAACAAAATTAAGGAGGAAAGGGGAAGAGGAGAACAGAGACCATCTGAGTATAGTTCACACTTTTTTTTTTTAAACAAATAAGAGGAGGTTCTAGTACATCATCAGGTTTT... | CAGGACCCATAAGGGAACATATTAAAATAAAAAACAAAAACAAGCCTCTCTCCTACAGCACTCTCGTTTTGGCCATCTCCTGCTCGGCTGCCACTCTAATTGGACTTGAAGTGCTGCCTCCAGGAAAGTGACTCAAGAACCAGCTGGAGCAGAATGCAAATAAGCTGGTAGGGGAGAGAGCCCAGGGAAAGAAGATGAAACAAAAAGAAAAACAAAATTAAGGAGGAAAGGGGAAGAGGAGAACAGAGACCATCTGAGTATAGTTCACACTTTTTTTTTTTAAACAAATAAGAGGAGGTTCTAGTACATCATCAGGTTTT... |
Task1_train_11888 | This variant affects gene COG5 (component of oligomeric golgi complex 5) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; COG5-congenital disorder of glycosylation | TACTGAAATACAGTCTATGAGTAATTTCTATTTTTAACTCTCCAAGTGATTTTTATCATCAAAGTGAAGGCACTCTGTCTTAATCCAGAGAATGGACCTTCTGAAACTGTGGGTTGTGTCTGACCATTAGAGGTCAAAAAAATCATTTCAGTGGGTCAGTATCGTAATGTTTTAAAAAGTAATAGACTAGCATAGAAAATATTAGAATGCGTACACAAAATAAGGATAAGTATTACTTTGTGAAACTTCTGTATCAATTATGTGTATAGAAGTACACTTTATGCAATTACATATGTAGGTATATATTTATAAATGCTTAT... | TACTGAAATACAGTCTATGAGTAATTTCTATTTTTAACTCTCCAAGTGATTTTTATCATCAAAGTGAAGGCACTCTGTCTTAATCCAGAGAATGGACCTTCTGAAACTGTGGGTTGTGTCTGACCATTAGAGGTCAAAAAAATCATTTCAGTGGGTCAGTATCGTAATGTTTTAAAAAGTAATAGACTAGCATAGAAAATATTAGAATGCGTACACAAAATAAGGATAAGTATTACTTTGTGAAACTTCTGTATCAATTATGTGTATAGAAGTACACTTTATGCAATTACATATGTAGGTATATATTTATAAATGCTTAT... |
Task1_train_11889 | This mutation is located in gene SLC26A4, SLC26A4-AS1 (solute carrier family 26 member 4| SLC26A4 antisense RNA 1) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Pendred syndrome | CCAAAAATGTCTCCAGGCATTGACCTCTGGAGGCAAAAAAAGCCCTTTATTAAGAACCAGTGGTATACATAAGTAAAACATACACAAGAGATTCCTCCCCTCTTCTCTGTATGTGAATAAAAATTGCAAAGTTCATGACCTGGATTTTCCTTTTAGGTTTCTTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCA... | CCAAAAATGTCTCCAGGCATTGACCTCTGGAGGCAAAAAAAGCCCTTTATTAAGAACCAGTGGTATACATAAGTAAAACATACACAAGAGATTCCTCCCCTCTTCTCTGTATGTGAATAAAAATTGCAAAGTTCATGACCTGGATTTTCCTTTTAGGTTTCTTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCA... |
Task1_train_11890 | This is a variant in SLC26A4, SLC26A4-AS1 (solute carrier family 26 member 4| SLC26A4 antisense RNA 1), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; SLC26A4-related disorder | CCAAAAATGTCTCCAGGCATTGACCTCTGGAGGCAAAAAAAGCCCTTTATTAAGAACCAGTGGTATACATAAGTAAAACATACACAAGAGATTCCTCCCCTCTTCTCTGTATGTGAATAAAAATTGCAAAGTTCATGACCTGGATTTTCCTTTTAGGTTTCTTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCA... | CCAAAAATGTCTCCAGGCATTGACCTCTGGAGGCAAAAAAAGCCCTTTATTAAGAACCAGTGGTATACATAAGTAAAACATACACAAGAGATTCCTCCCCTCTTCTCTGTATGTGAATAAAAATTGCAAAGTTCATGACCTGGATTTTCCTTTTAGGTTTCTTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCA... |
Task1_train_11891 | A sequence alteration has been identified in SLC26A4, SLC26A4-AS1 (solute carrier family 26 member 4| SLC26A4 antisense RNA 1) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | CCAAAAATGTCTCCAGGCATTGACCTCTGGAGGCAAAAAAAGCCCTTTATTAAGAACCAGTGGTATACATAAGTAAAACATACACAAGAGATTCCTCCCCTCTTCTCTGTATGTGAATAAAAATTGCAAAGTTCATGACCTGGATTTTCCTTTTAGGTTTCTTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCA... | CCAAAAATGTCTCCAGGCATTGACCTCTGGAGGCAAAAAAAGCCCTTTATTAAGAACCAGTGGTATACATAAGTAAAACATACACAAGAGATTCCTCCCCTCTTCTCTGTATGTGAATAAAAATTGCAAAGTTCATGACCTGGATTTTCCTTTTAGGTTTCTTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCA... |
Task1_train_11892 | The variant affects gene SLC26A4, SLC26A4-AS1 (solute carrier family 26 member 4| SLC26A4 antisense RNA 1), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Rare genetic deafness | CCAAAAATGTCTCCAGGCATTGACCTCTGGAGGCAAAAAAAGCCCTTTATTAAGAACCAGTGGTATACATAAGTAAAACATACACAAGAGATTCCTCCCCTCTTCTCTGTATGTGAATAAAAATTGCAAAGTTCATGACCTGGATTTTCCTTTTAGGTTTCTTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCA... | CCAAAAATGTCTCCAGGCATTGACCTCTGGAGGCAAAAAAAGCCCTTTATTAAGAACCAGTGGTATACATAAGTAAAACATACACAAGAGATTCCTCCCCTCTTCTCTGTATGTGAATAAAAATTGCAAAGTTCATGACCTGGATTTTCCTTTTAGGTTTCTTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCA... |
Task1_train_11893 | Given this context: Chromosome 7, gene SLC26A4, SLC26A4-AS1 (solute carrier family 26 member 4| SLC26A4 antisense RNA 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | CAAAAATGTCTCCAGGCATTGACCTCTGGAGGCAAAAAAAGCCCTTTATTAAGAACCAGTGGTATACATAAGTAAAACATACACAAGAGATTCCTCCCCTCTTCTCTGTATGTGAATAAAAATTGCAAAGTTCATGACCTGGATTTTCCTTTTAGGTTTCTTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCAG... | CAAAAATGTCTCCAGGCATTGACCTCTGGAGGCAAAAAAAGCCCTTTATTAAGAACCAGTGGTATACATAAGTAAAACATACACAAGAGATTCCTCCCCTCTTCTCTGTATGTGAATAAAAATTGCAAAGTTCATGACCTGGATTTTCCTTTTAGGTTTCTTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCAG... |
Task1_train_11894 | Here is a variant affecting SLC26A4, SLC26A4-AS1 (solute carrier family 26 member 4| SLC26A4 antisense RNA 1) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | ACATACACAAGAGATTCCTCCCCTCTTCTCTGTATGTGAATAAAAATTGCAAAGTTCATGACCTGGATTTTCCTTTTAGGTTTCTTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCAGGAGCTCGTAGAATTGTCATGGTCTGCATATGCAAGGCAGGTGGATTACGGAAGGTTGATGTACAGAGGTCTGTATT... | ACATACACAAGAGATTCCTCCCCTCTTCTCTGTATGTGAATAAAAATTGCAAAGTTCATGACCTGGATTTTCCTTTTAGGTTTCTTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCAGGAGCTCGTAGAATTGTCATGGTCTGCATATGCAAGGCAGGTGGATTACGGAAGGTTGATGTACAGAGGTCTGTATT... |
Task1_train_11895 | A genetic alteration is present in SLC26A4, SLC26A4-AS1 (solute carrier family 26 member 4| SLC26A4 antisense RNA 1) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | TACACAAGAGATTCCTCCCCTCTTCTCTGTATGTGAATAAAAATTGCAAAGTTCATGACCTGGATTTTCCTTTTAGGTTTCTTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCAGGAGCTCGTAGAATTGTCATGGTCTGCATATGCAAGGCAGGTGGATTACGGAAGGTTGATGTACAGAGGTCTGTATTTTG... | TACACAAGAGATTCCTCCCCTCTTCTCTGTATGTGAATAAAAATTGCAAAGTTCATGACCTGGATTTTCCTTTTAGGTTTCTTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCAGGAGCTCGTAGAATTGTCATGGTCTGCATATGCAAGGCAGGTGGATTACGGAAGGTTGATGTACAGAGGTCTGTATTTTG... |
Task1_train_11896 | A variant affecting Chromosome 7, within the gene SLC26A4 (solute carrier family 26 member 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | AGCGCCCTGGCTGCGGGCCATAGGGGACTGGGTGGAACTCGGGAAGCCCCCAGAGCAGGGGCTTACTCGCTTCAAGTTTGGGGAACCCCGGGCAGCGGGTGCAGGCCACGAGACCCGAAGGTTCTCAGGTGCCCCCCTGCAGGCTGGCCGTGCGCGCCGTGGGGCGCTTGTCGCGAGCGCCGAGGGCTGCAGGACGCGGACCAGACTCGCGGTGCAGGGGGGCCTGGCTGCAGCTAACAGGTGATCCCGTTCTTTCTGTTCCTCGCTCTTCCCCTCCGATCGTCCTCGCTTACCGCGTGTCCTCCCTCCTCGCTGTCCTC... | AGCGCCCTGGCTGCGGGCCATAGGGGACTGGGTGGAACTCGGGAAGCCCCCAGAGCAGGGGCTTACTCGCTTCAAGTTTGGGGAACCCCGGGCAGCGGGTGCAGGCCACGAGACCCGAAGGTTCTCAGGTGCCCCCCTGCAGGCTGGCCGTGCGCGCCGTGGGGCGCTTGTCGCGAGCGCCGAGGGCTGCAGGACGCGGACCAGACTCGCGGTGCAGGGGGGCCTGGCTGCAGCTAACAGGTGATCCCGTTCTTTCTGTTCCTCGCTCTTCCCCTCCGATCGTCCTCGCTTACCGCGTGTCCTCCCTCCTCGCTGTCCTC... |
Task1_train_11897 | This alteration in SLC26A4 (solute carrier family 26 member 4) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | CAGGGGCTTACTCGCTTCAAGTTTGGGGAACCCCGGGCAGCGGGTGCAGGCCACGAGACCCGAAGGTTCTCAGGTGCCCCCCTGCAGGCTGGCCGTGCGCGCCGTGGGGCGCTTGTCGCGAGCGCCGAGGGCTGCAGGACGCGGACCAGACTCGCGGTGCAGGGGGGCCTGGCTGCAGCTAACAGGTGATCCCGTTCTTTCTGTTCCTCGCTCTTCCCCTCCGATCGTCCTCGCTTACCGCGTGTCCTCCCTCCTCGCTGTCCTCTGGCTCGCAGGTCATGGCAGCGCCAGGCGGCAGGTCGGAGCCGCCGCAGCTCCCC... | CAGGGGCTTACTCGCTTCAAGTTTGGGGAACCCCGGGCAGCGGGTGCAGGCCACGAGACCCGAAGGTTCTCAGGTGCCCCCCTGCAGGCTGGCCGTGCGCGCCGTGGGGCGCTTGTCGCGAGCGCCGAGGGCTGCAGGACGCGGACCAGACTCGCGGTGCAGGGGGGCCTGGCTGCAGCTAACAGGTGATCCCGTTCTTTCTGTTCCTCGCTCTTCCCCTCCGATCGTCCTCGCTTACCGCGTGTCCTCCCTCCTCGCTGTCCTCTGGCTCGCAGGTCATGGCAGCGCCAGGCGGCAGGTCGGAGCCGCCGCAGCTCCCC... |
Task1_train_11898 | This variant lies on Chromosome 7 and affects the gene SLC26A4 (solute carrier family 26 member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pendred syndrome | CAGGGGCTTACTCGCTTCAAGTTTGGGGAACCCCGGGCAGCGGGTGCAGGCCACGAGACCCGAAGGTTCTCAGGTGCCCCCCTGCAGGCTGGCCGTGCGCGCCGTGGGGCGCTTGTCGCGAGCGCCGAGGGCTGCAGGACGCGGACCAGACTCGCGGTGCAGGGGGGCCTGGCTGCAGCTAACAGGTGATCCCGTTCTTTCTGTTCCTCGCTCTTCCCCTCCGATCGTCCTCGCTTACCGCGTGTCCTCCCTCCTCGCTGTCCTCTGGCTCGCAGGTCATGGCAGCGCCAGGCGGCAGGTCGGAGCCGCCGCAGCTCCCC... | CAGGGGCTTACTCGCTTCAAGTTTGGGGAACCCCGGGCAGCGGGTGCAGGCCACGAGACCCGAAGGTTCTCAGGTGCCCCCCTGCAGGCTGGCCGTGCGCGCCGTGGGGCGCTTGTCGCGAGCGCCGAGGGCTGCAGGACGCGGACCAGACTCGCGGTGCAGGGGGGCCTGGCTGCAGCTAACAGGTGATCCCGTTCTTTCTGTTCCTCGCTCTTCCCCTCCGATCGTCCTCGCTTACCGCGTGTCCTCCCTCCTCGCTGTCCTCTGGCTCGCAGGTCATGGCAGCGCCAGGCGGCAGGTCGGAGCCGCCGCAGCTCCCC... |
Task1_train_11899 | A variant was discovered on Chromosome 7, affecting SLC26A4 (solute carrier family 26 member 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | GGGCTTACTCGCTTCAAGTTTGGGGAACCCCGGGCAGCGGGTGCAGGCCACGAGACCCGAAGGTTCTCAGGTGCCCCCCTGCAGGCTGGCCGTGCGCGCCGTGGGGCGCTTGTCGCGAGCGCCGAGGGCTGCAGGACGCGGACCAGACTCGCGGTGCAGGGGGGCCTGGCTGCAGCTAACAGGTGATCCCGTTCTTTCTGTTCCTCGCTCTTCCCCTCCGATCGTCCTCGCTTACCGCGTGTCCTCCCTCCTCGCTGTCCTCTGGCTCGCAGGTCATGGCAGCGCCAGGCGGCAGGTCGGAGCCGCCGCAGCTCCCCGAG... | GGGCTTACTCGCTTCAAGTTTGGGGAACCCCGGGCAGCGGGTGCAGGCCACGAGACCCGAAGGTTCTCAGGTGCCCCCCTGCAGGCTGGCCGTGCGCGCCGTGGGGCGCTTGTCGCGAGCGCCGAGGGCTGCAGGACGCGGACCAGACTCGCGGTGCAGGGGGGCCTGGCTGCAGCTAACAGGTGATCCCGTTCTTTCTGTTCCTCGCTCTTCCCCTCCGATCGTCCTCGCTTACCGCGTGTCCTCCCTCCTCGCTGTCCTCTGGCTCGCAGGTCATGGCAGCGCCAGGCGGCAGGTCGGAGCCGCCGCAGCTCCCCGAG... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.