ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_10500 | This variant impacts the gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on Chromosome 6. Is the change likely to result in a pathogenic outcome? | Pathogenic; Autosomal recessive polycystic kidney disease | GATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAACACAAAATCAATGCTATATTATACACTTTGAACTGTTTCTTATTAAATCAGAAATAACTGAGTCAAAAGTAAAAAAACATGATGGCTATGACAAATGGTGGGTGATAAATAAAAGTGATCTTTTCTCTGAAGCTGTTTCACTTCCTCATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTCTGCTGGTTTTCTTCTGATGTA... | GATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAACACAAAATCAATGCTATATTATACACTTTGAACTGTTTCTTATTAAATCAGAAATAACTGAGTCAAAAGTAAAAAAACATGATGGCTATGACAAATGGTGGGTGATAAATAAAAGTGATCTTTTCTCTGAAGCTGTTTCACTTCCTCATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTCTGCTGGTTTTCTTCTGATGTA... |
Task1_train_10501 | This mutation is located in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Polycystic kidney disease 4 | AAGCTGTTTCACTTCCTCATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTCTGCTGGTTTTCTTCTGATGTACCTCTATTGCTTCTACTCATTGACTTTTCTCTGTTTCTAGTTAAAAGCACAATATTAACTGAGTCGTCTTTTATATATAATATAAAATCAGTCATTTTGGAATTACGACCTATTAGAAAGCTCAGTACTGTAAAATCTAAATAAAATTAAGCAATAAACTGACTCTCTTTCTCTCTAGACAAAAATTATTCATGTATGTATACTTATAATATACTT... | AAGCTGTTTCACTTCCTCATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTCTGCTGGTTTTCTTCTGATGTACCTCTATTGCTTCTACTCATTGACTTTTCTCTGTTTCTAGTTAAAAGCACAATATTAACTGAGTCGTCTTTTATATATAATATAAAATCAGTCATTTTGGAATTACGACCTATTAGAAAGCTCAGTACTGTAAAATCTAAATAAAATTAAGCAATAAACTGACTCTCTTTCTCTCTAGACAAAAATTATTCATGTATGTATACTTATAATATACTT... |
Task1_train_10502 | This genomic variant is located on Chromosome 6, within the PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal recessive polycystic kidney disease | AAGCTGTTTCACTTCCTCATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTCTGCTGGTTTTCTTCTGATGTACCTCTATTGCTTCTACTCATTGACTTTTCTCTGTTTCTAGTTAAAAGCACAATATTAACTGAGTCGTCTTTTATATATAATATAAAATCAGTCATTTTGGAATTACGACCTATTAGAAAGCTCAGTACTGTAAAATCTAAATAAAATTAAGCAATAAACTGACTCTCTTTCTCTCTAGACAAAAATTATTCATGTATGTATACTTATAATATACTT... | AAGCTGTTTCACTTCCTCATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTCTGCTGGTTTTCTTCTGATGTACCTCTATTGCTTCTACTCATTGACTTTTCTCTGTTTCTAGTTAAAAGCACAATATTAACTGAGTCGTCTTTTATATATAATATAAAATCAGTCATTTTGGAATTACGACCTATTAGAAAGCTCAGTACTGTAAAATCTAAATAAAATTAAGCAATAAACTGACTCTCTTTCTCTCTAGACAAAAATTATTCATGTATGTATACTTATAATATACTT... |
Task1_train_10503 | An alteration has been detected in PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on Chromosome 6. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive polycystic kidney disease | ATCCTATCTAATTTTCACATATTTGAATGAAACTCTTAGATCATATGTCAGAAAACAGTATTTACACCTGGTCTGAAATACCAATATCTGCTAGACCTCATCGTTCAGTTCAGAGATTCCTGTCAGCAGACACAATCTCCTTCTATCTACTAGTTCCTGCACAAAAGGCTCCCAAGGTCTCCTTCTGAAGACCACTGACACTTTACTCCAATGAAGAATGAAGAATTAGAGTCAATTTATTACCAGCAAGTTTGAAAACATCCCAAAGAAGTCTCTCTAATTAAGACAAAACAATAAAACAATATCAATAAAACTTGCAC... | ATCCTATCTAATTTTCACATATTTGAATGAAACTCTTAGATCATATGTCAGAAAACAGTATTTACACCTGGTCTGAAATACCAATATCTGCTAGACCTCATCGTTCAGTTCAGAGATTCCTGTCAGCAGACACAATCTCCTTCTATCTACTAGTTCCTGCACAAAAGGCTCCCAAGGTCTCCTTCTGAAGACCACTGACACTTTACTCCAATGAAGAATGAAGAATTAGAGTCAATTTATTACCAGCAAGTTTGAAAACATCCCAAAGAAGTCTCTCTAATTAAGACAAAACAATAAAACAATATCAATAAAACTTGCAC... |
Task1_train_10504 | The variant affects gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Polycystic kidney disease 4 | ATCCTATCTAATTTTCACATATTTGAATGAAACTCTTAGATCATATGTCAGAAAACAGTATTTACACCTGGTCTGAAATACCAATATCTGCTAGACCTCATCGTTCAGTTCAGAGATTCCTGTCAGCAGACACAATCTCCTTCTATCTACTAGTTCCTGCACAAAAGGCTCCCAAGGTCTCCTTCTGAAGACCACTGACACTTTACTCCAATGAAGAATGAAGAATTAGAGTCAATTTATTACCAGCAAGTTTGAAAACATCCCAAAGAAGTCTCTCTAATTAAGACAAAACAATAAAACAATATCAATAAAACTTGCAC... | ATCCTATCTAATTTTCACATATTTGAATGAAACTCTTAGATCATATGTCAGAAAACAGTATTTACACCTGGTCTGAAATACCAATATCTGCTAGACCTCATCGTTCAGTTCAGAGATTCCTGTCAGCAGACACAATCTCCTTCTATCTACTAGTTCCTGCACAAAAGGCTCCCAAGGTCTCCTTCTGAAGACCACTGACACTTTACTCCAATGAAGAATGAAGAATTAGAGTCAATTTATTACCAGCAAGTTTGAAAACATCCCAAAGAAGTCTCTCTAATTAAGACAAAACAATAAAACAATATCAATAAAACTTGCAC... |
Task1_train_10505 | A variant affecting Chromosome 6, within the gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not specified | ATCCTATCTAATTTTCACATATTTGAATGAAACTCTTAGATCATATGTCAGAAAACAGTATTTACACCTGGTCTGAAATACCAATATCTGCTAGACCTCATCGTTCAGTTCAGAGATTCCTGTCAGCAGACACAATCTCCTTCTATCTACTAGTTCCTGCACAAAAGGCTCCCAAGGTCTCCTTCTGAAGACCACTGACACTTTACTCCAATGAAGAATGAAGAATTAGAGTCAATTTATTACCAGCAAGTTTGAAAACATCCCAAAGAAGTCTCTCTAATTAAGACAAAACAATAAAACAATATCAATAAAACTTGCAC... | ATCCTATCTAATTTTCACATATTTGAATGAAACTCTTAGATCATATGTCAGAAAACAGTATTTACACCTGGTCTGAAATACCAATATCTGCTAGACCTCATCGTTCAGTTCAGAGATTCCTGTCAGCAGACACAATCTCCTTCTATCTACTAGTTCCTGCACAAAAGGCTCCCAAGGTCTCCTTCTGAAGACCACTGACACTTTACTCCAATGAAGAATGAAGAATTAGAGTCAATTTATTACCAGCAAGTTTGAAAACATCCCAAAGAAGTCTCTCTAATTAAGACAAAACAATAAAACAATATCAATAAAACTTGCAC... |
Task1_train_10506 | The gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Autosomal recessive polycystic kidney disease | GTCTTGGCCTGCTTTTCTGGTCTATAACAAATCAGTACCCATATCTGCCATCCCTGACCTACACCTGCAGATCCCTTCTTATTCAGGCCCTGGACTATGTTATAGAAAAATGTAAGCATTCTTAATGCAGGGTATAAACCTGAATTGAATTCTGGAACAGAAAAAAACTGATAAAATTTGAAGAAAGTCTTGAGTTTAGTTCATGGTCATGTACCAATGTTAATGTCTTTGTTTTGACAAATATACTAGTATTATATCAGCTATTAATGGAAGAAAATTGAGTGAAAGGTATACAGGATCTCTCTATACTACCTTTGCAG... | GTCTTGGCCTGCTTTTCTGGTCTATAACAAATCAGTACCCATATCTGCCATCCCTGACCTACACCTGCAGATCCCTTCTTATTCAGGCCCTGGACTATGTTATAGAAAAATGTAAGCATTCTTAATGCAGGGTATAAACCTGAATTGAATTCTGGAACAGAAAAAAACTGATAAAATTTGAAGAAAGTCTTGAGTTTAGTTCATGGTCATGTACCAATGTTAATGTCTTTGTTTTGACAAATATACTAGTATTATATCAGCTATTAATGGAAGAAAATTGAGTGAAAGGTATACAGGATCTCTCTATACTACCTTTGCAG... |
Task1_train_10507 | This gene mutation involves PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; Polycystic kidney disease 4 | GTCTTGGCCTGCTTTTCTGGTCTATAACAAATCAGTACCCATATCTGCCATCCCTGACCTACACCTGCAGATCCCTTCTTATTCAGGCCCTGGACTATGTTATAGAAAAATGTAAGCATTCTTAATGCAGGGTATAAACCTGAATTGAATTCTGGAACAGAAAAAAACTGATAAAATTTGAAGAAAGTCTTGAGTTTAGTTCATGGTCATGTACCAATGTTAATGTCTTTGTTTTGACAAATATACTAGTATTATATCAGCTATTAATGGAAGAAAATTGAGTGAAAGGTATACAGGATCTCTCTATACTACCTTTGCAG... | GTCTTGGCCTGCTTTTCTGGTCTATAACAAATCAGTACCCATATCTGCCATCCCTGACCTACACCTGCAGATCCCTTCTTATTCAGGCCCTGGACTATGTTATAGAAAAATGTAAGCATTCTTAATGCAGGGTATAAACCTGAATTGAATTCTGGAACAGAAAAAAACTGATAAAATTTGAAGAAAGTCTTGAGTTTAGTTCATGGTCATGTACCAATGTTAATGTCTTTGTTTTGACAAATATACTAGTATTATATCAGCTATTAATGGAAGAAAATTGAGTGAAAGGTATACAGGATCTCTCTATACTACCTTTGCAG... |
Task1_train_10508 | This gene mutation involves PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive polycystic kidney disease | GGTTTTTATTACGTTTAGTTTATTTGAGTATTCAGATTATTTTGCAGTTCATGAACAGAATATGACCTATGGACAAGACAGCCTCTTCAGAAGCAGGCTAAGTAATGGAAAGAGAGCAATTCAGATTAAAATTTTGTTCCAGAATACATATCAAGTGAATAGCCATAAAGTTAATGGTAACTATTTACTCTTATTTATGGCTGTATTCGGCTGAAGTGGTAAAACAATCTCAGGAATCTCTGTCCGTCTCAAGTTTTTATAGTTTTAGGTTACATTTATGAATGGATCAAATCAGAAATAAAATTTGAATGGTATAATTC... | GGTTTTTATTACGTTTAGTTTATTTGAGTATTCAGATTATTTTGCAGTTCATGAACAGAATATGACCTATGGACAAGACAGCCTCTTCAGAAGCAGGCTAAGTAATGGAAAGAGAGCAATTCAGATTAAAATTTTGTTCCAGAATACATATCAAGTGAATAGCCATAAAGTTAATGGTAACTATTTACTCTTATTTATGGCTGTATTCGGCTGAAGTGGTAAAACAATCTCAGGAATCTCTGTCCGTCTCAAGTTTTTATAGTTTTAGGTTACATTTATGAATGGATCAAATCAGAAATAAAATTTGAATGGTATAATTC... |
Task1_train_10509 | A mutation on Chromosome 6 affecting PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Polycystic kidney disease 4 | GGTTTTTATTACGTTTAGTTTATTTGAGTATTCAGATTATTTTGCAGTTCATGAACAGAATATGACCTATGGACAAGACAGCCTCTTCAGAAGCAGGCTAAGTAATGGAAAGAGAGCAATTCAGATTAAAATTTTGTTCCAGAATACATATCAAGTGAATAGCCATAAAGTTAATGGTAACTATTTACTCTTATTTATGGCTGTATTCGGCTGAAGTGGTAAAACAATCTCAGGAATCTCTGTCCGTCTCAAGTTTTTATAGTTTTAGGTTACATTTATGAATGGATCAAATCAGAAATAAAATTTGAATGGTATAATTC... | GGTTTTTATTACGTTTAGTTTATTTGAGTATTCAGATTATTTTGCAGTTCATGAACAGAATATGACCTATGGACAAGACAGCCTCTTCAGAAGCAGGCTAAGTAATGGAAAGAGAGCAATTCAGATTAAAATTTTGTTCCAGAATACATATCAAGTGAATAGCCATAAAGTTAATGGTAACTATTTACTCTTATTTATGGCTGTATTCGGCTGAAGTGGTAAAACAATCTCAGGAATCTCTGTCCGTCTCAAGTTTTTATAGTTTTAGGTTACATTTATGAATGGATCAAATCAGAAATAAAATTTGAATGGTATAATTC... |
Task1_train_10510 | The following genetic variant occurs in LOC126859690, PKHD1 (MED14-independent group 3 enhancer GRCh37_chr6:51888848-51890047| PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Autosomal recessive polycystic kidney disease | ACACATAGAGAAATTAGTAGTCAGTACAGCATTAATCACAAAAATAGAATTAACCAAAGAATATCATTTCCATATATATGCTTTAAAATATATGTGTGTGGCATCTTTACTCACCATCCAGGGGCAGAACCAAGCAGCTGAAGGCAGACACTGTAGCATTAGCCAGGACTCGGCAGGGAGCACCACACACAGCAGCTGAGACATTCCCTGGAGAAAATCCCGCTCCAAACACATGCACCAGCCTTCCACCCAGGCAGCCTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTC... | ACACATAGAGAAATTAGTAGTCAGTACAGCATTAATCACAAAAATAGAATTAACCAAAGAATATCATTTCCATATATATGCTTTAAAATATATGTGTGTGGCATCTTTACTCACCATCCAGGGGCAGAACCAAGCAGCTGAAGGCAGACACTGTAGCATTAGCCAGGACTCGGCAGGGAGCACCACACACAGCAGCTGAGACATTCCCTGGAGAAAATCCCGCTCCAAACACATGCACCAGCCTTCCACCCAGGCAGCCTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTC... |
Task1_train_10511 | This mutation occurs in LOC126859690, PKHD1 (MED14-independent group 3 enhancer GRCh37_chr6:51888848-51890047| PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive polycystic kidney disease | ACACATAGAGAAATTAGTAGTCAGTACAGCATTAATCACAAAAATAGAATTAACCAAAGAATATCATTTCCATATATATGCTTTAAAATATATGTGTGTGGCATCTTTACTCACCATCCAGGGGCAGAACCAAGCAGCTGAAGGCAGACACTGTAGCATTAGCCAGGACTCGGCAGGGAGCACCACACACAGCAGCTGAGACATTCCCTGGAGAAAATCCCGCTCCAAACACATGCACCAGCCTTCCACCCAGGCAGCCTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTC... | ACACATAGAGAAATTAGTAGTCAGTACAGCATTAATCACAAAAATAGAATTAACCAAAGAATATCATTTCCATATATATGCTTTAAAATATATGTGTGTGGCATCTTTACTCACCATCCAGGGGCAGAACCAAGCAGCTGAAGGCAGACACTGTAGCATTAGCCAGGACTCGGCAGGGAGCACCACACACAGCAGCTGAGACATTCCCTGGAGAAAATCCCGCTCCAAACACATGCACCAGCCTTCCACCCAGGCAGCCTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTC... |
Task1_train_10512 | This alteration occurs within gene LOC126859690, PKHD1 (MED14-independent group 3 enhancer GRCh37_chr6:51888848-51890047| PKHD1 ciliary IPT domain containing fibrocystin/polyductin) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal recessive polycystic kidney disease | AAAATATATGTGTGTGGCATCTTTACTCACCATCCAGGGGCAGAACCAAGCAGCTGAAGGCAGACACTGTAGCATTAGCCAGGACTCGGCAGGGAGCACCACACACAGCAGCTGAGACATTCCCTGGAGAAAATCCCGCTCCAAACACATGCACCAGCCTTCCACCCAGGCAGCCTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTCAAAATTCAAACATTTGCTTCCTCACTACCCATTCTTCTTTTCACATCCTCAGAATCCGCACAACTGGCTTGAGGTGGCTGCTGG... | AAAATATATGTGTGTGGCATCTTTACTCACCATCCAGGGGCAGAACCAAGCAGCTGAAGGCAGACACTGTAGCATTAGCCAGGACTCGGCAGGGAGCACCACACACAGCAGCTGAGACATTCCCTGGAGAAAATCCCGCTCCAAACACATGCACCAGCCTTCCACCCAGGCAGCCTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTCAAAATTCAAACATTTGCTTCCTCACTACCCATTCTTCTTTTCACATCCTCAGAATCCGCACAACTGGCTTGAGGTGGCTGCTGG... |
Task1_train_10513 | This variant impacts the gene LOC126859690, PKHD1 (MED14-independent group 3 enhancer GRCh37_chr6:51888848-51890047| PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on Chromosome 6. Is the change likely to result in a pathogenic outcome? | Pathogenic; Polycystic kidney disease 4 | CCAGCCTTCCACCCAGGCAGCCTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTCAAAATTCAAACATTTGCTTCCTCACTACCCATTCTTCTTTTCACATCCTCAGAATCCGCACAACTGGCTTGAGGTGGCTGCTGGCCTCAGTTTCCTCTCCACTTAGGCTCTGGCCTTGTCTGACTCCAATCACATTCAATATCCTATTGTGTTAAAGAGGTTTTTTTTTAATGTAACAATTTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCC... | CCAGCCTTCCACCCAGGCAGCCTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTCAAAATTCAAACATTTGCTTCCTCACTACCCATTCTTCTTTTCACATCCTCAGAATCCGCACAACTGGCTTGAGGTGGCTGCTGGCCTCAGTTTCCTCTCCACTTAGGCTCTGGCCTTGTCTGACTCCAATCACATTCAATATCCTATTGTGTTAAAGAGGTTTTTTTTTAATGTAACAATTTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCC... |
Task1_train_10514 | Here’s a variant in LOC126859690, PKHD1 (MED14-independent group 3 enhancer GRCh37_chr6:51888848-51890047| PKHD1 ciliary IPT domain containing fibrocystin/polyductin) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal recessive polycystic kidney disease | CCAGCCTTCCACCCAGGCAGCCTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTCAAAATTCAAACATTTGCTTCCTCACTACCCATTCTTCTTTTCACATCCTCAGAATCCGCACAACTGGCTTGAGGTGGCTGCTGGCCTCAGTTTCCTCTCCACTTAGGCTCTGGCCTTGTCTGACTCCAATCACATTCAATATCCTATTGTGTTAAAGAGGTTTTTTTTTAATGTAACAATTTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCC... | CCAGCCTTCCACCCAGGCAGCCTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTCAAAATTCAAACATTTGCTTCCTCACTACCCATTCTTCTTTTCACATCCTCAGAATCCGCACAACTGGCTTGAGGTGGCTGCTGGCCTCAGTTTCCTCTCCACTTAGGCTCTGGCCTTGTCTGACTCCAATCACATTCAATATCCTATTGTGTTAAAGAGGTTTTTTTTTAATGTAACAATTTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCC... |
Task1_train_10515 | A variant was discovered on Chromosome 6, affecting PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive polycystic kidney disease | TTTCTGATTCAAAGCATTATTCTATCCATATTATTCTGGAACTTGCTTTTTTGCTTCAAAGTATAGCATAGATGTTTTTTCAAAACTCTATGGATCCAGTTCATTTTAGTAGCTACTTAGAATTCCATTATAGGGCCCTGCTACAATTTATTTGACAATTTTCCTATTTATTGAAATTTCCATTTTTTCTCCTCTTTTGCTATTGTTAATAGTGATGCAATAACTGTACATGTTTTGGGACATTTGTATGAGTAAAACCAGTCCACATTTCTAGTTTACACTGAGATACAGAGTTCCCCTCACTACTGCCTTCATACCAG... | TTTCTGATTCAAAGCATTATTCTATCCATATTATTCTGGAACTTGCTTTTTTGCTTCAAAGTATAGCATAGATGTTTTTTCAAAACTCTATGGATCCAGTTCATTTTAGTAGCTACTTAGAATTCCATTATAGGGCCCTGCTACAATTTATTTGACAATTTTCCTATTTATTGAAATTTCCATTTTTTCTCCTCTTTTGCTATTGTTAATAGTGATGCAATAACTGTACATGTTTTGGGACATTTGTATGAGTAAAACCAGTCCACATTTCTAGTTTACACTGAGATACAGAGTTCCCCTCACTACTGCCTTCATACCAG... |
Task1_train_10516 | A variant was discovered in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), Chromosome 6. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Autosomal recessive polycystic kidney disease | GTAAAAAAAAAATAGGACCAATAGGCAGGGCCTTTCTTTGGCTTGTTTATAAAGCATTCAATATCTGGCAGAATGATGGCATTCACTTCAACAAAGATTTATTGGTGCTTACTCTATGTCAATTCCTGGACCAGGTACTTTCATCTGCTTTATTTCCTATTTTCATGATTACCTTGAAAGAATTATTCCCACCTATCAAATGAAGGAACTGAAGATAAAAGAAGTTAAATATCTTACCCAAGGAGTATGGTAAGTTCAACTAAGTTTGGCCTAAGGCTGTCTCTGTACCTTGAGTCTCTACATAAAGAACTGCAACCCAA... | GTAAAAAAAAAATAGGACCAATAGGCAGGGCCTTTCTTTGGCTTGTTTATAAAGCATTCAATATCTGGCAGAATGATGGCATTCACTTCAACAAAGATTTATTGGTGCTTACTCTATGTCAATTCCTGGACCAGGTACTTTCATCTGCTTTATTTCCTATTTTCATGATTACCTTGAAAGAATTATTCCCACCTATCAAATGAAGGAACTGAAGATAAAAGAAGTTAAATATCTTACCCAAGGAGTATGGTAAGTTCAACTAAGTTTGGCCTAAGGCTGTCTCTGTACCTTGAGTCTCTACATAAAGAACTGCAACCCAA... |
Task1_train_10517 | An alteration has been detected in PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on Chromosome 6. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Polycystic kidney disease 4 | CCCTCTTCATCCCCTTCCCTTCTTGATTTTTATCCTATACACTTACCATCACTGCCCCAAGAACAGAGGATTTGTTTTTATTTACTGTATCCCCAGCATTAATAATGCCTGGTAATAAAAGCTAAATAAATTGTCATTATGATTATTGTTGATGGTAACAATTAAAGGTTGAAGAGGTGATGATATCTTGCCATTCTCATTTGAAAGTTTAGACTATGGCCACACAAGAGTCCGTACCTTAAAGAAGACAATGCTATCTCAGCACAAAAATGAATGAAGAAAGTATGTAAAGCAAAGCCAAGATTTTCCTCAAAAAAATC... | CCCTCTTCATCCCCTTCCCTTCTTGATTTTTATCCTATACACTTACCATCACTGCCCCAAGAACAGAGGATTTGTTTTTATTTACTGTATCCCCAGCATTAATAATGCCTGGTAATAAAAGCTAAATAAATTGTCATTATGATTATTGTTGATGGTAACAATTAAAGGTTGAAGAGGTGATGATATCTTGCCATTCTCATTTGAAAGTTTAGACTATGGCCACACAAGAGTCCGTACCTTAAAGAAGACAATGCTATCTCAGCACAAAAATGAATGAAGAAAGTATGTAAAGCAAAGCCAAGATTTTCCTCAAAAAAATC... |
Task1_train_10518 | Given this variant in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not specified | CCCTCTTCATCCCCTTCCCTTCTTGATTTTTATCCTATACACTTACCATCACTGCCCCAAGAACAGAGGATTTGTTTTTATTTACTGTATCCCCAGCATTAATAATGCCTGGTAATAAAAGCTAAATAAATTGTCATTATGATTATTGTTGATGGTAACAATTAAAGGTTGAAGAGGTGATGATATCTTGCCATTCTCATTTGAAAGTTTAGACTATGGCCACACAAGAGTCCGTACCTTAAAGAAGACAATGCTATCTCAGCACAAAAATGAATGAAGAAAGTATGTAAAGCAAAGCCAAGATTTTCCTCAAAAAAATC... | CCCTCTTCATCCCCTTCCCTTCTTGATTTTTATCCTATACACTTACCATCACTGCCCCAAGAACAGAGGATTTGTTTTTATTTACTGTATCCCCAGCATTAATAATGCCTGGTAATAAAAGCTAAATAAATTGTCATTATGATTATTGTTGATGGTAACAATTAAAGGTTGAAGAGGTGATGATATCTTGCCATTCTCATTTGAAAGTTTAGACTATGGCCACACAAGAGTCCGTACCTTAAAGAAGACAATGCTATCTCAGCACAAAAATGAATGAAGAAAGTATGTAAAGCAAAGCCAAGATTTTCCTCAAAAAAATC... |
Task1_train_10519 | Here is a genetic alteration in PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal recessive polycystic kidney disease | CCCTCTTCATCCCCTTCCCTTCTTGATTTTTATCCTATACACTTACCATCACTGCCCCAAGAACAGAGGATTTGTTTTTATTTACTGTATCCCCAGCATTAATAATGCCTGGTAATAAAAGCTAAATAAATTGTCATTATGATTATTGTTGATGGTAACAATTAAAGGTTGAAGAGGTGATGATATCTTGCCATTCTCATTTGAAAGTTTAGACTATGGCCACACAAGAGTCCGTACCTTAAAGAAGACAATGCTATCTCAGCACAAAAATGAATGAAGAAAGTATGTAAAGCAAAGCCAAGATTTTCCTCAAAAAAATC... | CCCTCTTCATCCCCTTCCCTTCTTGATTTTTATCCTATACACTTACCATCACTGCCCCAAGAACAGAGGATTTGTTTTTATTTACTGTATCCCCAGCATTAATAATGCCTGGTAATAAAAGCTAAATAAATTGTCATTATGATTATTGTTGATGGTAACAATTAAAGGTTGAAGAGGTGATGATATCTTGCCATTCTCATTTGAAAGTTTAGACTATGGCCACACAAGAGTCCGTACCTTAAAGAAGACAATGCTATCTCAGCACAAAAATGAATGAAGAAAGTATGTAAAGCAAAGCCAAGATTTTCCTCAAAAAAATC... |
Task1_train_10520 | This variant lies on Chromosome 6 and affects the gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Autosomal recessive polycystic kidney disease | TAATAATGCCTGGTAATAAAAGCTAAATAAATTGTCATTATGATTATTGTTGATGGTAACAATTAAAGGTTGAAGAGGTGATGATATCTTGCCATTCTCATTTGAAAGTTTAGACTATGGCCACACAAGAGTCCGTACCTTAAAGAAGACAATGCTATCTCAGCACAAAAATGAATGAAGAAAGTATGTAAAGCAAAGCCAAGATTTTCCTCAAAAAAATCCTTTCAAGGGTTTTGCTTCTGCAAATGGGTAGGTGGTGATTTATCACATTATTGTATCCATTCATTACATATGCAAATATTCTGTAAATTTCTTGCTGA... | TAATAATGCCTGGTAATAAAAGCTAAATAAATTGTCATTATGATTATTGTTGATGGTAACAATTAAAGGTTGAAGAGGTGATGATATCTTGCCATTCTCATTTGAAAGTTTAGACTATGGCCACACAAGAGTCCGTACCTTAAAGAAGACAATGCTATCTCAGCACAAAAATGAATGAAGAAAGTATGTAAAGCAAAGCCAAGATTTTCCTCAAAAAAATCCTTTCAAGGGTTTTGCTTCTGCAAATGGGTAGGTGGTGATTTATCACATTATTGTATCCATTCATTACATATGCAAATATTCTGTAAATTTCTTGCTGA... |
Task1_train_10521 | A change on Chromosome 6 affects gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Polycystic kidney disease 4 | TAATAATGCCTGGTAATAAAAGCTAAATAAATTGTCATTATGATTATTGTTGATGGTAACAATTAAAGGTTGAAGAGGTGATGATATCTTGCCATTCTCATTTGAAAGTTTAGACTATGGCCACACAAGAGTCCGTACCTTAAAGAAGACAATGCTATCTCAGCACAAAAATGAATGAAGAAAGTATGTAAAGCAAAGCCAAGATTTTCCTCAAAAAAATCCTTTCAAGGGTTTTGCTTCTGCAAATGGGTAGGTGGTGATTTATCACATTATTGTATCCATTCATTACATATGCAAATATTCTGTAAATTTCTTGCTGA... | TAATAATGCCTGGTAATAAAAGCTAAATAAATTGTCATTATGATTATTGTTGATGGTAACAATTAAAGGTTGAAGAGGTGATGATATCTTGCCATTCTCATTTGAAAGTTTAGACTATGGCCACACAAGAGTCCGTACCTTAAAGAAGACAATGCTATCTCAGCACAAAAATGAATGAAGAAAGTATGTAAAGCAAAGCCAAGATTTTCCTCAAAAAAATCCTTTCAAGGGTTTTGCTTCTGCAAATGGGTAGGTGGTGATTTATCACATTATTGTATCCATTCATTACATATGCAAATATTCTGTAAATTTCTTGCTGA... |
Task1_train_10522 | Consider a variant on Chromosome 6 in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal recessive polycystic kidney disease | TTCGTCTTCTCATGCTTGATGCTTAGCACATGCTAGGCATAGACTAGGTGGTCAATAAATGATTACTTGCTCAGCTGGGTAGATCAGTTCGAGGGTCAGTGATCATTAGATTCCGATCTCCTCCACAGCTCCGCTGTGTGAATTGGGGCAAAATACTCCACTCCTTTTAGCCTTGGTTTCCCCACCCATAGGTGGGGATAACAGGACCAACTCATGGGCTTCTGAGAACTAAACGAGAAATAAATGGAAGCTACCACTATCCAGTGGTAGTGGGAGATACAAAGAAGTTTCATAGAGGACATTAGTCAGGGGAATATCAT... | TTCGTCTTCTCATGCTTGATGCTTAGCACATGCTAGGCATAGACTAGGTGGTCAATAAATGATTACTTGCTCAGCTGGGTAGATCAGTTCGAGGGTCAGTGATCATTAGATTCCGATCTCCTCCACAGCTCCGCTGTGTGAATTGGGGCAAAATACTCCACTCCTTTTAGCCTTGGTTTCCCCACCCATAGGTGGGGATAACAGGACCAACTCATGGGCTTCTGAGAACTAAACGAGAAATAAATGGAAGCTACCACTATCCAGTGGTAGTGGGAGATACAAAGAAGTTTCATAGAGGACATTAGTCAGGGGAATATCAT... |
Task1_train_10523 | This variant impacts the gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on Chromosome 6. Is the change likely to result in a pathogenic outcome? | Pathogenic; Autosomal recessive polycystic kidney disease | GCTTGATGCTTAGCACATGCTAGGCATAGACTAGGTGGTCAATAAATGATTACTTGCTCAGCTGGGTAGATCAGTTCGAGGGTCAGTGATCATTAGATTCCGATCTCCTCCACAGCTCCGCTGTGTGAATTGGGGCAAAATACTCCACTCCTTTTAGCCTTGGTTTCCCCACCCATAGGTGGGGATAACAGGACCAACTCATGGGCTTCTGAGAACTAAACGAGAAATAAATGGAAGCTACCACTATCCAGTGGTAGTGGGAGATACAAAGAAGTTTCATAGAGGACATTAGTCAGGGGAATATCATCAAGTATAAAATT... | GCTTGATGCTTAGCACATGCTAGGCATAGACTAGGTGGTCAATAAATGATTACTTGCTCAGCTGGGTAGATCAGTTCGAGGGTCAGTGATCATTAGATTCCGATCTCCTCCACAGCTCCGCTGTGTGAATTGGGGCAAAATACTCCACTCCTTTTAGCCTTGGTTTCCCCACCCATAGGTGGGGATAACAGGACCAACTCATGGGCTTCTGAGAACTAAACGAGAAATAAATGGAAGCTACCACTATCCAGTGGTAGTGGGAGATACAAAGAAGTTTCATAGAGGACATTAGTCAGGGGAATATCATCAAGTATAAAATT... |
Task1_train_10524 | Chromosome 6 houses a mutation in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Polycystic kidney disease 4 | GCTTGATGCTTAGCACATGCTAGGCATAGACTAGGTGGTCAATAAATGATTACTTGCTCAGCTGGGTAGATCAGTTCGAGGGTCAGTGATCATTAGATTCCGATCTCCTCCACAGCTCCGCTGTGTGAATTGGGGCAAAATACTCCACTCCTTTTAGCCTTGGTTTCCCCACCCATAGGTGGGGATAACAGGACCAACTCATGGGCTTCTGAGAACTAAACGAGAAATAAATGGAAGCTACCACTATCCAGTGGTAGTGGGAGATACAAAGAAGTTTCATAGAGGACATTAGTCAGGGGAATATCATCAAGTATAAAATT... | GCTTGATGCTTAGCACATGCTAGGCATAGACTAGGTGGTCAATAAATGATTACTTGCTCAGCTGGGTAGATCAGTTCGAGGGTCAGTGATCATTAGATTCCGATCTCCTCCACAGCTCCGCTGTGTGAATTGGGGCAAAATACTCCACTCCTTTTAGCCTTGGTTTCCCCACCCATAGGTGGGGATAACAGGACCAACTCATGGGCTTCTGAGAACTAAACGAGAAATAAATGGAAGCTACCACTATCCAGTGGTAGTGGGAGATACAAAGAAGTTTCATAGAGGACATTAGTCAGGGGAATATCATCAAGTATAAAATT... |
Task1_train_10525 | This gene mutation involves PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive polycystic kidney disease | ATACTCCACTCCTTTTAGCCTTGGTTTCCCCACCCATAGGTGGGGATAACAGGACCAACTCATGGGCTTCTGAGAACTAAACGAGAAATAAATGGAAGCTACCACTATCCAGTGGTAGTGGGAGATACAAAGAAGTTTCATAGAGGACATTAGTCAGGGGAATATCATCAAGTATAAAATTGAGATCAGATAAATGATATACAATTAACTATGAATATTGAGCCCAATTGTGTAGTTTATGTTGCCATTAAATAATTCTGAAAACAAAGCCATTGCCAGCAGGGTTAATGTGATAAAGTGGGAGGCAGACCGTTTCATGT... | ATACTCCACTCCTTTTAGCCTTGGTTTCCCCACCCATAGGTGGGGATAACAGGACCAACTCATGGGCTTCTGAGAACTAAACGAGAAATAAATGGAAGCTACCACTATCCAGTGGTAGTGGGAGATACAAAGAAGTTTCATAGAGGACATTAGTCAGGGGAATATCATCAAGTATAAAATTGAGATCAGATAAATGATATACAATTAACTATGAATATTGAGCCCAATTGTGTAGTTTATGTTGCCATTAAATAATTCTGAAAACAAAGCCATTGCCAGCAGGGTTAATGTGATAAAGTGGGAGGCAGACCGTTTCATGT... |
Task1_train_10526 | A variant found in Chromosome 6 affects PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Autosomal recessive polycystic kidney disease | GTACTGCAATGTTTAGGCAAAAGACTGAAAAGTTGTACATTTTCTAAATCAAAATGTAAATTAAGGTATCATCTTTTTCTTCTTGGAGAGGGAAATAAACTATAAAAAGTAGGCTAGCTGAGCCCCAAAGCCACAAGGGATTTGACAGAGAAGGAAACATGAGCAAAAGTTGGAAGCCTGAAGACACTGAGGGCAAACTGCACCATTCTGCCTTGGCTGTGGGCGCACATCACACACAGACACCTCAGCAGGGCCCAGGAGGAGGACTTTGTCCCTAAGACTAGCGGGCAAGAGCCAGGTGAGACCACTGTGCCCAAGAG... | GTACTGCAATGTTTAGGCAAAAGACTGAAAAGTTGTACATTTTCTAAATCAAAATGTAAATTAAGGTATCATCTTTTTCTTCTTGGAGAGGGAAATAAACTATAAAAAGTAGGCTAGCTGAGCCCCAAAGCCACAAGGGATTTGACAGAGAAGGAAACATGAGCAAAAGTTGGAAGCCTGAAGACACTGAGGGCAAACTGCACCATTCTGCCTTGGCTGTGGGCGCACATCACACACAGACACCTCAGCAGGGCCCAGGAGGAGGACTTTGTCCCTAAGACTAGCGGGCAAGAGCCAGGTGAGACCACTGTGCCCAAGAG... |
Task1_train_10527 | The variant affects gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Polycystic kidney disease 4 | GTACTGCAATGTTTAGGCAAAAGACTGAAAAGTTGTACATTTTCTAAATCAAAATGTAAATTAAGGTATCATCTTTTTCTTCTTGGAGAGGGAAATAAACTATAAAAAGTAGGCTAGCTGAGCCCCAAAGCCACAAGGGATTTGACAGAGAAGGAAACATGAGCAAAAGTTGGAAGCCTGAAGACACTGAGGGCAAACTGCACCATTCTGCCTTGGCTGTGGGCGCACATCACACACAGACACCTCAGCAGGGCCCAGGAGGAGGACTTTGTCCCTAAGACTAGCGGGCAAGAGCCAGGTGAGACCACTGTGCCCAAGAG... | GTACTGCAATGTTTAGGCAAAAGACTGAAAAGTTGTACATTTTCTAAATCAAAATGTAAATTAAGGTATCATCTTTTTCTTCTTGGAGAGGGAAATAAACTATAAAAAGTAGGCTAGCTGAGCCCCAAAGCCACAAGGGATTTGACAGAGAAGGAAACATGAGCAAAAGTTGGAAGCCTGAAGACACTGAGGGCAAACTGCACCATTCTGCCTTGGCTGTGGGCGCACATCACACACAGACACCTCAGCAGGGCCCAGGAGGAGGACTTTGTCCCTAAGACTAGCGGGCAAGAGCCAGGTGAGACCACTGTGCCCAAGAG... |
Task1_train_10528 | A mutation in PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal recessive polycystic kidney disease | TAGACTTAGAAAACACAGGCTATAGGGAAATAGGACCTCAATCAGTCAAAAATTATGGAATTTAATGTGTATATGCTCACATGCATGCACGCATACATGTCGGGCGTGTGTTTAGAGGACCTTGTCTCTTTTCTGGGAAATAAGTTTCTAAAAGAAGACTTGCTTGGAACTTAAATTCCTAAAACTAACTCAATGAGTAAGATAATCTCAGGAATAAGACATCACATTTTTGTAAACATCTTCACAATGCTGTTAAAGAGATATCCTATTTCTTTGACAGCAAGGTTATAATGACCCCTCAGGTCGCCAGACTCCCAGTC... | TAGACTTAGAAAACACAGGCTATAGGGAAATAGGACCTCAATCAGTCAAAAATTATGGAATTTAATGTGTATATGCTCACATGCATGCACGCATACATGTCGGGCGTGTGTTTAGAGGACCTTGTCTCTTTTCTGGGAAATAAGTTTCTAAAAGAAGACTTGCTTGGAACTTAAATTCCTAAAACTAACTCAATGAGTAAGATAATCTCAGGAATAAGACATCACATTTTTGTAAACATCTTCACAATGCTGTTAAAGAGATATCCTATTTCTTTGACAGCAAGGTTATAATGACCCCTCAGGTCGCCAGACTCCCAGTC... |
Task1_train_10529 | A genomic change on Chromosome 6 affects PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Polycystic kidney disease 4 | TAGACTTAGAAAACACAGGCTATAGGGAAATAGGACCTCAATCAGTCAAAAATTATGGAATTTAATGTGTATATGCTCACATGCATGCACGCATACATGTCGGGCGTGTGTTTAGAGGACCTTGTCTCTTTTCTGGGAAATAAGTTTCTAAAAGAAGACTTGCTTGGAACTTAAATTCCTAAAACTAACTCAATGAGTAAGATAATCTCAGGAATAAGACATCACATTTTTGTAAACATCTTCACAATGCTGTTAAAGAGATATCCTATTTCTTTGACAGCAAGGTTATAATGACCCCTCAGGTCGCCAGACTCCCAGTC... | TAGACTTAGAAAACACAGGCTATAGGGAAATAGGACCTCAATCAGTCAAAAATTATGGAATTTAATGTGTATATGCTCACATGCATGCACGCATACATGTCGGGCGTGTGTTTAGAGGACCTTGTCTCTTTTCTGGGAAATAAGTTTCTAAAAGAAGACTTGCTTGGAACTTAAATTCCTAAAACTAACTCAATGAGTAAGATAATCTCAGGAATAAGACATCACATTTTTGTAAACATCTTCACAATGCTGTTAAAGAGATATCCTATTTCTTTGACAGCAAGGTTATAATGACCCCTCAGGTCGCCAGACTCCCAGTC... |
Task1_train_10530 | A variant was discovered on Chromosome 6, affecting PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive polycystic kidney disease | CAGTCTGAAAAAGTGAAACCATAGAGTATCATTCTTGTAATGGCCTCAAAGGAGGGGCAACACACCCTGTCCAGAGTGAAGTAAAAATCCAGCAAAACATTGGGTATTTAAACTGGAGAGTGTAGAAACTTATTTCTAAATTTTTTATTATTTTTACCTTTGGCTAGTCACTGAAGTATAGTGGTTAAGATCATGAACTCTAGGGGATGATTAGTTAGACAGGGTTCAAATCCCAGGTCTGCCACTTGCTCTCTGTGAGACCTTGTGCAAGTTACTTAACTTTTCTGTGTCTCAAATTCCTCATCTATAATGTGAGACTA... | CAGTCTGAAAAAGTGAAACCATAGAGTATCATTCTTGTAATGGCCTCAAAGGAGGGGCAACACACCCTGTCCAGAGTGAAGTAAAAATCCAGCAAAACATTGGGTATTTAAACTGGAGAGTGTAGAAACTTATTTCTAAATTTTTTATTATTTTTACCTTTGGCTAGTCACTGAAGTATAGTGGTTAAGATCATGAACTCTAGGGGATGATTAGTTAGACAGGGTTCAAATCCCAGGTCTGCCACTTGCTCTCTGTGAGACCTTGTGCAAGTTACTTAACTTTTCTGTGTCTCAAATTCCTCATCTATAATGTGAGACTA... |
Task1_train_10531 | This variant impacts the gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on Chromosome 6. Is the change likely to result in a pathogenic outcome? | Pathogenic; Autosomal recessive polycystic kidney disease | ATTGCTGAGCACTATGCTACACACTTCCATATCATCTCATGTAGAAATCCCAGAGTCCCATCCCACAGCCTGGAATGGGAAAGTGGACACAGAGTTGTCATGGTATGCTGTGCTTTGCTTCTGTGACATTAGCAAGCCAGTATCTAGAAAGACAGAAGTTGGTCAGTCTGTTCGTCTCCCTTCAGGCCCACTTTTACACCTGTCCTTAGAAAAGGAAGAAAACCAAAGACTCATAGTCTTTAGGATTGTGGGTCAATACATAAGAAATGTGCACTTGGTAAAACCCCAACCTACCATCAAAAATGACTGTGATCCACGTT... | ATTGCTGAGCACTATGCTACACACTTCCATATCATCTCATGTAGAAATCCCAGAGTCCCATCCCACAGCCTGGAATGGGAAAGTGGACACAGAGTTGTCATGGTATGCTGTGCTTTGCTTCTGTGACATTAGCAAGCCAGTATCTAGAAAGACAGAAGTTGGTCAGTCTGTTCGTCTCCCTTCAGGCCCACTTTTACACCTGTCCTTAGAAAAGGAAGAAAACCAAAGACTCATAGTCTTTAGGATTGTGGGTCAATACATAAGAAATGTGCACTTGGTAAAACCCCAACCTACCATCAAAAATGACTGTGATCCACGTT... |
Task1_train_10532 | With a mutation on Chromosome 6 in gene CILK1 (ciliogenesis associated kinase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Endocrine-cerebro-osteodysplasia syndrome | GCTATATTTCATTGTGACCAGTTTACTACTGTTTCTTAGCCCAATTAGAAAACAGTACCTTGAATTTTTAACACCCCTTGTGATTTTTCTTATCTAAGATACCATAAAATATATGTAATGATTGCAACACAAAGTTATTTATATATAGTAGCCAGTTACACTGCTGTTACCCTGGCTACTTCTAAAAAGCATTCTGGATCAACACAGATCCTGGTTTTGTAACTTATTTGCTATGTGTCTTAAATAGAGTATTTCATCCTTCCAAGCCTATTTCCTCATTCCACAGAAGAAGAAAAAAATAATACAAAACTGAAAGAGCC... | GCTATATTTCATTGTGACCAGTTTACTACTGTTTCTTAGCCCAATTAGAAAACAGTACCTTGAATTTTTAACACCCCTTGTGATTTTTCTTATCTAAGATACCATAAAATATATGTAATGATTGCAACACAAAGTTATTTATATATAGTAGCCAGTTACACTGCTGTTACCCTGGCTACTTCTAAAAAGCATTCTGGATCAACACAGATCCTGGTTTTGTAACTTATTTGCTATGTGTCTTAAATAGAGTATTTCATCCTTCCAAGCCTATTTCCTCATTCCACAGAAGAAGAAAAAAATAATACAAAACTGAAAGAGCC... |
Task1_train_10533 | An alteration has been detected in CILK1 (ciliogenesis associated kinase 1) on Chromosome 6. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Endocrine-cerebro-osteodysplasia syndrome | TCTGGCAACAAGTATCTGGGTCTAAAGAATAGCAACAAAAATGAGAAAGAAGAAAAAACCAAAGAATATTAACTTTTGTTTAAGTCTACCACTCAGTTCCCAGTACTGAGAAAATAGCCTGAAAAACTGAGACACTATGACTGGTCTCTATCTGAAAATGTGTTATCTCTTTTGAGAATCCCATTGAATTCTCATTATTTCTTTTCCCTGAGCTCTTAATCTAATAAGTGACCTTTCTCCTATTTGTCCCTAAGATACCATGCCAGAAGTTTTTAATGTTTTGCAAATTCACACCATCTCTTGTGAATTCTTGTGAATAA... | TCTGGCAACAAGTATCTGGGTCTAAAGAATAGCAACAAAAATGAGAAAGAAGAAAAAACCAAAGAATATTAACTTTTGTTTAAGTCTACCACTCAGTTCCCAGTACTGAGAAAATAGCCTGAAAAACTGAGACACTATGACTGGTCTCTATCTGAAAATGTGTTATCTCTTTTGAGAATCCCATTGAATTCTCATTATTTCTTTTCCCTGAGCTCTTAATCTAATAAGTGACCTTTCTCCTATTTGTCCCTAAGATACCATGCCAGAAGTTTTTAATGTTTTGCAAATTCACACCATCTCTTGTGAATTCTTGTGAATAA... |
Task1_train_10534 | Gene ELOVL5 (ELOVL fatty acid elongase 5) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Spinocerebellar ataxia type 38 | CTTTGATTTTTTCTAAACAGAGCTATTACAAATTAATACAAACTTGAAACATACCCTAATTTAAACTAATAAGCTTTGGGCCCTGCTTTTTAAATTTTAAGGCATGTGTGTTTCTCTACCATAACAACATTGTACAAATTTACATTTACAATCACATGCATGATCTACAGTTAAAAAAAAAAGTTTGGATTACAGTGTTTTTAAATTGTGAATCACAATTCAGCACCTATCATGTTATAACTAATAAGGCAACAGCAGTGTTGTATACTATAATAATACTCCCTTTCCACAGTCTAGCGCAGGGGTCAGAGAGCCCAGAA... | CTTTGATTTTTTCTAAACAGAGCTATTACAAATTAATACAAACTTGAAACATACCCTAATTTAAACTAATAAGCTTTGGGCCCTGCTTTTTAAATTTTAAGGCATGTGTGTTTCTCTACCATAACAACATTGTACAAATTTACATTTACAATCACATGCATGATCTACAGTTAAAAAAAAAAGTTTGGATTACAGTGTTTTTAAATTGTGAATCACAATTCAGCACCTATCATGTTATAACTAATAAGGCAACAGCAGTGTTGTATACTATAATAATACTCCCTTTCCACAGTCTAGCGCAGGGGTCAGAGAGCCCAGAA... |
Task1_train_10535 | This variant impacts the gene ELOVL5 (ELOVL fatty acid elongase 5) on Chromosome 6. Is the change likely to result in a pathogenic outcome? | Pathogenic; Spinocerebellar ataxia type 38 | GAAGTTTGAAAAAGGACACATGACAATGGAATTATTGATGGGTTTTACAATATGTACAGGAGAAAACTCGGACAAAAACCAAATGTGAATACCATCAACTTGGAGCACTAGGGCTTATTTTCAACTTGGGTATATCTGACCTGGATAGCTTTTTGTAAACTTGATTTAATTTAAGGAAACATTGCCTCTTTGTCTATTACCTCTCTATGTACTCTAAACTGTGAGTTAAAAATGTAGTTTCCCTATTCTGTATATTTCTTAAATTTCTGTATTCAGTGCTTAGTCACTGCTCAAAGTCTTCTCTTCTCACCAAGCTATCA... | GAAGTTTGAAAAAGGACACATGACAATGGAATTATTGATGGGTTTTACAATATGTACAGGAGAAAACTCGGACAAAAACCAAATGTGAATACCATCAACTTGGAGCACTAGGGCTTATTTTCAACTTGGGTATATCTGACCTGGATAGCTTTTTGTAAACTTGATTTAATTTAAGGAAACATTGCCTCTTTGTCTATTACCTCTCTATGTACTCTAAACTGTGAGTTAAAAATGTAGTTTCCCTATTCTGTATATTTCTTAAATTTCTGTATTCAGTGCTTAGTCACTGCTCAAAGTCTTCTCTTCTCACCAAGCTATCA... |
Task1_train_10536 | Located on Chromosome 6, this mutation impacts GCLC (glutamate-cysteine ligase catalytic subunit). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Gamma-glutamylcysteine synthetase deficiency | GGCAAACTCCTCCCAGAAAGCTTGTTTTTTGGTCTTTTGGGGGGCAGATTAACTCCAATTTGTTTTTCTGAGAGTTCAATCCCATCCGAATTCTTCAGAAATATCTCAAGTTCAGTTCTACTGAGGAGACTTTTACCGGCATTCCAGCAGTTACACTTTCCCTCCCCATCCTAATTTAACATTGTAATCAACCTGGGATTTTGTGGTGGATGAAATCAATGTGTAGGACTACTTCTAGCCATCAATCATCTTGAATGGAAAGCGTCTAGAAATTAAGCTTAGGTTTAAAAGAAAATAAAGAATAGGGCTGATGGAGAAAC... | GGCAAACTCCTCCCAGAAAGCTTGTTTTTTGGTCTTTTGGGGGGCAGATTAACTCCAATTTGTTTTTCTGAGAGTTCAATCCCATCCGAATTCTTCAGAAATATCTCAAGTTCAGTTCTACTGAGGAGACTTTTACCGGCATTCCAGCAGTTACACTTTCCCTCCCCATCCTAATTTAACATTGTAATCAACCTGGGATTTTGTGGTGGATGAAATCAATGTGTAGGACTACTTCTAGCCATCAATCATCTTGAATGGAAAGCGTCTAGAAATTAAGCTTAGGTTTAAAAGAAAATAAAGAATAGGGCTGATGGAGAAAC... |
Task1_train_10537 | The variant affects gene DST, DST-AS1 (dystonin| DST antisense RNA 1), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary sensory and autonomic neuropathy type 6 | ATCTCTTGACCTCATGATCCGCCCACGGGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGACACCTGGCCTGTAAATTCTAAAGAATGGAATTTTGAGATCCCCAGTGCATCACCTGCCACCAACTTCACAGCTATCCCTACAAACTCAGTGAACATTTTACAATTAACAAGCGATGGCCCCTGCATCAATGACTCCACAGTCTACTAATAGCATCAGCACCTTCATGTACACTGCATCCCATTAGAACATAGAGTTCTTCAATATCTTCCCCACCTGCAGTGTACAATGATGGTTAGTACTACCAATTTCTC... | ATCTCTTGACCTCATGATCCGCCCACGGGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGACACCTGGCCTGTAAATTCTAAAGAATGGAATTTTGAGATCCCCAGTGCATCACCTGCCACCAACTTCACAGCTATCCCTACAAACTCAGTGAACATTTTACAATTAACAAGCGATGGCCCCTGCATCAATGACTCCACAGTCTACTAATAGCATCAGCACCTTCATGTACACTGCATCCCATTAGAACATAGAGTTCTTCAATATCTTCCCCACCTGCAGTGTACAATGATGGTTAGTACTACCAATTTCTC... |
Task1_train_10538 | A change on Chromosome 6 affects gene RAB23 (RAB23, member RAS oncogene family). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Carpenter syndrome | TTTAAAAAAGAAAGAAAAAGAGTATGGAGGATGTGTCTTCAGGCAGGCAGATACACAACTGAAAACTTTCTAGAAAGGCCTTGAGGAATGAATTGTTCTTCGACAGAAGATGGGAAAGAGGTCATTCTCAATAGAAGAAAAAAAATGACCAAAAGTGAAGAAGAAAGCAAGCATGGGGCATACTCAGGAAAGATCAAGACCTCTGAGAGAACCAGTAAATGGGTTACATAGATGTAATGGTGTGGCAGGAGGCTACACAGAAGGAAGGGCAAAACCACCTTTAAATGTTGGATTGAAGAGAATCTGCATTTACTTTGTTC... | TTTAAAAAAGAAAGAAAAAGAGTATGGAGGATGTGTCTTCAGGCAGGCAGATACACAACTGAAAACTTTCTAGAAAGGCCTTGAGGAATGAATTGTTCTTCGACAGAAGATGGGAAAGAGGTCATTCTCAATAGAAGAAAAAAAATGACCAAAAGTGAAGAAGAAAGCAAGCATGGGGCATACTCAGGAAAGATCAAGACCTCTGAGAGAACCAGTAAATGGGTTACATAGATGTAATGGTGTGGCAGGAGGCTACACAGAAGGAAGGGCAAAACCACCTTTAAATGTTGGATTGAAGAGAATCTGCATTTACTTTGTTC... |
Task1_train_10539 | This variant affects the gene EYS, PHF3 (eyes shut homolog| PHD finger protein 3) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Retinitis pigmentosa 25 | TGGTCGTAGGTCCTTTTAGGAATGTCTGTAGCCTTTTGATTGGAATGGAGTGGCTAAAATAAGACAAAAATCTCTAATAGTTTTTGAATGATAAATTACTACCTCGTTACTTTGTATAGACTGGAATCTGCACAGAAATGTGTATTCATCAGCCCTTATTTTTTGTAAATCTTTTCTCTAATTACTTGATGATTAATTTCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAAT... | TGGTCGTAGGTCCTTTTAGGAATGTCTGTAGCCTTTTGATTGGAATGGAGTGGCTAAAATAAGACAAAAATCTCTAATAGTTTTTGAATGATAAATTACTACCTCGTTACTTTGTATAGACTGGAATCTGCACAGAAATGTGTATTCATCAGCCCTTATTTTTTGTAAATCTTTTCTCTAATTACTTGATGATTAATTTCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAAT... |
Task1_train_10540 | This variant affects the gene EYS, PHF3 (eyes shut homolog| PHD finger protein 3) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Retinitis pigmentosa 25 | ATTAAGGTTAATTTTTTAATTTGATCAGTTAATATGAGTACATGGTTTTAAAAAGTCAAATAGTTCTACAAGGTTCATAAGCAAAAAGCAACAGGCTTCTGCACTACTCTTCTCTCCAGAGGCAACCATTTTTAATTCTTTTAGATATTTAGGATATTTGCCTTCATGTTTGTGATATGCATATGCTATGTTTTAAGTTGCACATATTGTAATATCTATTGATGTCTTACTATAAAAGATAAGGATTTAGCTCTTACCAGCCTGTTCTCCTCTCCTCTCACCTTCTCTTTCTACATTCATGCAATAATTTTTGGTTTAAA... | ATTAAGGTTAATTTTTTAATTTGATCAGTTAATATGAGTACATGGTTTTAAAAAGTCAAATAGTTCTACAAGGTTCATAAGCAAAAAGCAACAGGCTTCTGCACTACTCTTCTCTCCAGAGGCAACCATTTTTAATTCTTTTAGATATTTAGGATATTTGCCTTCATGTTTGTGATATGCATATGCTATGTTTTAAGTTGCACATATTGTAATATCTATTGATGTCTTACTATAAAAGATAAGGATTTAGCTCTTACCAGCCTGTTCTCCTCTCCTCTCACCTTCTCTTTCTACATTCATGCAATAATTTTTGGTTTAAA... |
Task1_train_10541 | This alteration occurs within gene EYS (eyes shut homolog) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; not specified | TCCCCCTGTACATTATTGCTTGTCTATTTGTTACTCAAATTTAGGCCCTCATGTTTGAGATACTGCATTCCACCCACACGGCAATCTATGAAATCCCCAGGATATGTGTTATAAAGAAAGGTATTTTCAATTTGGAGAAAATACAATGTGCCAACTGAAGATAATTTCAACGTTATTTTTTAAAATTAAGATGAAATGAACAGGTTACAACCAGTAAATAAAGAGCGACTTAACACTCTTGTTACCTCATTAAAATTATTTGCTGTTTTTAAGTTCATTTCTTGCTATTTAGATTCTGGAGAGAATCTTGACCCTCGAAA... | TCCCCCTGTACATTATTGCTTGTCTATTTGTTACTCAAATTTAGGCCCTCATGTTTGAGATACTGCATTCCACCCACACGGCAATCTATGAAATCCCCAGGATATGTGTTATAAAGAAAGGTATTTTCAATTTGGAGAAAATACAATGTGCCAACTGAAGATAATTTCAACGTTATTTTTTAAAATTAAGATGAAATGAACAGGTTACAACCAGTAAATAAAGAGCGACTTAACACTCTTGTTACCTCATTAAAATTATTTGCTGTTTTTAAGTTCATTTCTTGCTATTTAGATTCTGGAGAGAATCTTGACCCTCGAAA... |
Task1_train_10542 | Chromosome 6 houses a mutation in gene EYS (eyes shut homolog). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Retinal dystrophy | TCCCCCTGTACATTATTGCTTGTCTATTTGTTACTCAAATTTAGGCCCTCATGTTTGAGATACTGCATTCCACCCACACGGCAATCTATGAAATCCCCAGGATATGTGTTATAAAGAAAGGTATTTTCAATTTGGAGAAAATACAATGTGCCAACTGAAGATAATTTCAACGTTATTTTTTAAAATTAAGATGAAATGAACAGGTTACAACCAGTAAATAAAGAGCGACTTAACACTCTTGTTACCTCATTAAAATTATTTGCTGTTTTTAAGTTCATTTCTTGCTATTTAGATTCTGGAGAGAATCTTGACCCTCGAAA... | TCCCCCTGTACATTATTGCTTGTCTATTTGTTACTCAAATTTAGGCCCTCATGTTTGAGATACTGCATTCCACCCACACGGCAATCTATGAAATCCCCAGGATATGTGTTATAAAGAAAGGTATTTTCAATTTGGAGAAAATACAATGTGCCAACTGAAGATAATTTCAACGTTATTTTTTAAAATTAAGATGAAATGAACAGGTTACAACCAGTAAATAAAGAGCGACTTAACACTCTTGTTACCTCATTAAAATTATTTGCTGTTTTTAAGTTCATTTCTTGCTATTTAGATTCTGGAGAGAATCTTGACCCTCGAAA... |
Task1_train_10543 | Here is a mutation in EYS (eyes shut homolog) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Retinitis pigmentosa 25 | TTGCCCAAGATTCCCATACTCACTAAAGACTGTGGCAGTTGACATACTTCCAGGAGTGTGCAATCTTAATGTTTCTGTAAGAGAAAGGGCCAGCTCTGTGTGTGCTGATCTCATTTGAACACGGAACTATTTGAACACAGGAAGACAGACTGTGGCAATAAGATTGCTCACCCAAGCACAATGTTGTCCTTAATCCTCTTGGCTTGCTCTGGCCTCTGTGGGCTACCCCTTGGTGGTATGGATGGGTTGACTGCAGTCTGTCTCTTGCCTTTTGAACTTCAAAGTTAGATGGACTTTCAATTTTTACTGTGACTCTTTGA... | TTGCCCAAGATTCCCATACTCACTAAAGACTGTGGCAGTTGACATACTTCCAGGAGTGTGCAATCTTAATGTTTCTGTAAGAGAAAGGGCCAGCTCTGTGTGTGCTGATCTCATTTGAACACGGAACTATTTGAACACAGGAAGACAGACTGTGGCAATAAGATTGCTCACCCAAGCACAATGTTGTCCTTAATCCTCTTGGCTTGCTCTGGCCTCTGTGGGCTACCCCTTGGTGGTATGGATGGGTTGACTGCAGTCTGTCTCTTGCCTTTTGAACTTCAAAGTTAGATGGACTTTCAATTTTTACTGTGACTCTTTGA... |
Task1_train_10544 | A mutation on Chromosome 6 affecting EYS (eyes shut homolog) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Retinitis pigmentosa | TTGCCCAAGATTCCCATACTCACTAAAGACTGTGGCAGTTGACATACTTCCAGGAGTGTGCAATCTTAATGTTTCTGTAAGAGAAAGGGCCAGCTCTGTGTGTGCTGATCTCATTTGAACACGGAACTATTTGAACACAGGAAGACAGACTGTGGCAATAAGATTGCTCACCCAAGCACAATGTTGTCCTTAATCCTCTTGGCTTGCTCTGGCCTCTGTGGGCTACCCCTTGGTGGTATGGATGGGTTGACTGCAGTCTGTCTCTTGCCTTTTGAACTTCAAAGTTAGATGGACTTTCAATTTTTACTGTGACTCTTTGA... | TTGCCCAAGATTCCCATACTCACTAAAGACTGTGGCAGTTGACATACTTCCAGGAGTGTGCAATCTTAATGTTTCTGTAAGAGAAAGGGCCAGCTCTGTGTGTGCTGATCTCATTTGAACACGGAACTATTTGAACACAGGAAGACAGACTGTGGCAATAAGATTGCTCACCCAAGCACAATGTTGTCCTTAATCCTCTTGGCTTGCTCTGGCCTCTGTGGGCTACCCCTTGGTGGTATGGATGGGTTGACTGCAGTCTGTCTCTTGCCTTTTGAACTTCAAAGTTAGATGGACTTTCAATTTTTACTGTGACTCTTTGA... |
Task1_train_10545 | Gene EYS (eyes shut homolog) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Retinal dystrophy | TTGCCCAAGATTCCCATACTCACTAAAGACTGTGGCAGTTGACATACTTCCAGGAGTGTGCAATCTTAATGTTTCTGTAAGAGAAAGGGCCAGCTCTGTGTGTGCTGATCTCATTTGAACACGGAACTATTTGAACACAGGAAGACAGACTGTGGCAATAAGATTGCTCACCCAAGCACAATGTTGTCCTTAATCCTCTTGGCTTGCTCTGGCCTCTGTGGGCTACCCCTTGGTGGTATGGATGGGTTGACTGCAGTCTGTCTCTTGCCTTTTGAACTTCAAAGTTAGATGGACTTTCAATTTTTACTGTGACTCTTTGA... | TTGCCCAAGATTCCCATACTCACTAAAGACTGTGGCAGTTGACATACTTCCAGGAGTGTGCAATCTTAATGTTTCTGTAAGAGAAAGGGCCAGCTCTGTGTGTGCTGATCTCATTTGAACACGGAACTATTTGAACACAGGAAGACAGACTGTGGCAATAAGATTGCTCACCCAAGCACAATGTTGTCCTTAATCCTCTTGGCTTGCTCTGGCCTCTGTGGGCTACCCCTTGGTGGTATGGATGGGTTGACTGCAGTCTGTCTCTTGCCTTTTGAACTTCAAAGTTAGATGGACTTTCAATTTTTACTGTGACTCTTTGA... |
Task1_train_10546 | This variant lies on Chromosome 6 and affects the gene EYS (eyes shut homolog). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Retinal dystrophy | ATGTTTGGTTTTTTGTCCTTGCCATAGTTTGCTGAGAAGGATGGTTTCCAGCTTCATCCATGTCCCAACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTGTTCCATGGTTTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAATAAATATACGTGTTCATGTGTCTTTATAGCAGCATGATTTATAATACTTTGGGTATTACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAA... | ATGTTTGGTTTTTTGTCCTTGCCATAGTTTGCTGAGAAGGATGGTTTCCAGCTTCATCCATGTCCCAACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTGTTCCATGGTTTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAATAAATATACGTGTTCATGTGTCTTTATAGCAGCATGATTTATAATACTTTGGGTATTACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAA... |
Task1_train_10547 | This gene mutation involves EYS (eyes shut homolog) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; Retinitis pigmentosa 25 | ATGTTTGGTTTTTTGTCCTTGCCATAGTTTGCTGAGAAGGATGGTTTCCAGCTTCATCCATGTCCCAACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTGTTCCATGGTTTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAATAAATATACGTGTTCATGTGTCTTTATAGCAGCATGATTTATAATACTTTGGGTATTACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAA... | ATGTTTGGTTTTTTGTCCTTGCCATAGTTTGCTGAGAAGGATGGTTTCCAGCTTCATCCATGTCCCAACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTGTTCCATGGTTTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAATAAATATACGTGTTCATGTGTCTTTATAGCAGCATGATTTATAATACTTTGGGTATTACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAA... |
Task1_train_10548 | Consider this mutation in EYS (eyes shut homolog) on Chromosome 6. Is this a benign change or a disease-causing variant? | Pathogenic; Retinal dystrophy | GGTTTTTTGTCCTTGCCATAGTTTGCTGAGAAGGATGGTTTCCAGCTTCATCCATGTCCCAACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTGTTCCATGGTTTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAATAAATATACGTGTTCATGTGTCTTTATAGCAGCATGATTTATAATACTTTGGGTATTACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCACCA... | GGTTTTTTGTCCTTGCCATAGTTTGCTGAGAAGGATGGTTTCCAGCTTCATCCATGTCCCAACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTGTTCCATGGTTTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAATAAATATACGTGTTCATGTGTCTTTATAGCAGCATGATTTATAATACTTTGGGTATTACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCACCA... |
Task1_train_10549 | The variant affects gene EYS (eyes shut homolog), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Retinitis pigmentosa 25 | GGTTTTTTGTCCTTGCCATAGTTTGCTGAGAAGGATGGTTTCCAGCTTCATCCATGTCCCAACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTGTTCCATGGTTTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAATAAATATACGTGTTCATGTGTCTTTATAGCAGCATGATTTATAATACTTTGGGTATTACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCACCA... | GGTTTTTTGTCCTTGCCATAGTTTGCTGAGAAGGATGGTTTCCAGCTTCATCCATGTCCCAACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTGTTCCATGGTTTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAATAAATATACGTGTTCATGTGTCTTTATAGCAGCATGATTTATAATACTTTGGGTATTACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCACCA... |
Task1_train_10550 | A variant affecting Chromosome 6, within the gene EYS (eyes shut homolog), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | CATGTATGAAAGAGAAGGTCAATTTGAATGTCAAAAGAGTATGTACAGAAAAACAAATACATGTAACTTTCTTGAGGGGGAAAACTTCTTTTTGAATGTCCAGTCATGTATCTTTCTTGGTTTGAAACCAAACTGTAACACATATTTCATAATATTTTTTCTATATTCAACTGTAAATTCTGAAAGTGGTACACTTTTAATTTCTTATCTTCCACTGAACCTAAAAATGGACATGTGAGCAGTTTTGCTCAGTGACATATTAGCAGGTTTTGATTGTTATTCTAAAAAGGTTCTCCTTATAGAAAGACTCAATACAGTTA... | CATGTATGAAAGAGAAGGTCAATTTGAATGTCAAAAGAGTATGTACAGAAAAACAAATACATGTAACTTTCTTGAGGGGGAAAACTTCTTTTTGAATGTCCAGTCATGTATCTTTCTTGGTTTGAAACCAAACTGTAACACATATTTCATAATATTTTTTCTATATTCAACTGTAAATTCTGAAAGTGGTACACTTTTAATTTCTTATCTTCCACTGAACCTAAAAATGGACATGTGAGCAGTTTTGCTCAGTGACATATTAGCAGGTTTTGATTGTTATTCTAAAAAGGTTCTCCTTATAGAAAGACTCAATACAGTTA... |
Task1_train_10551 | The variant affects gene KCNQ5 (potassium voltage-gated channel subfamily Q member 5), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Intellectual disability, autosomal dominant 46 | GGATCCCTTGAGGCCAGGAGTTCGAGACCAGCCTGAGCAACATGGTGAGACCCTGTCTCTACAAAAAATTTTAAAAAAAATTAGCCAGGCCTGCTGGCCTGCGCCTATAGTCCCAGCTCTCAGGAGGCTGAGGTGGGAGGATAGCTTGAACCCTAGGAGTTCAAGGTTAAAGTTACAATGAGCTATGAATGCACCACTGCACTCTAGCCTGGTCAACAGAGGAAGACCCTATTTCTAAAAAAATAAAAATGAAAAATAAAAAAGCATGATGAATCATTAACATCGTGTACTAGGTTTTTTCACTAGCAGGCTCTTTCCTC... | GGATCCCTTGAGGCCAGGAGTTCGAGACCAGCCTGAGCAACATGGTGAGACCCTGTCTCTACAAAAAATTTTAAAAAAAATTAGCCAGGCCTGCTGGCCTGCGCCTATAGTCCCAGCTCTCAGGAGGCTGAGGTGGGAGGATAGCTTGAACCCTAGGAGTTCAAGGTTAAAGTTACAATGAGCTATGAATGCACCACTGCACTCTAGCCTGGTCAACAGAGGAAGACCCTATTTCTAAAAAAATAAAAATGAAAAATAAAAAAGCATGATGAATCATTAACATCGTGTACTAGGTTTTTTCACTAGCAGGCTCTTTCCTC... |
Task1_train_10552 | This alteration in KCNQ5 (potassium voltage-gated channel subfamily Q member 5) on Chromosome 6 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | TCCTTTCAGCCCTATTGGTTTTGCTTTATGAATTTTGAGACTGTCTTGTCATTTTCCCCTCACCTTCTTAAAAAAAAAAGCAGCAAGCAATATTTCTGAACAATAGGGCTTGAATAAAGAACTTGTAAATGTACTTTATCCTGCCTTACTGCAGCAGAGGAATAGTGCAGTGACCTTGGCATACCTAAGAACAATGGGCATATATCTGTCATTTGTTAAGAACAATGGACATATTGGTGTCATCTGTTTCCATGAAAAAGAAAAATTACTACACGGTAGTGTTCGGGGGCTCAGGCCACATTTGGGATTTTCTTGGGATC... | TCCTTTCAGCCCTATTGGTTTTGCTTTATGAATTTTGAGACTGTCTTGTCATTTTCCCCTCACCTTCTTAAAAAAAAAAGCAGCAAGCAATATTTCTGAACAATAGGGCTTGAATAAAGAACTTGTAAATGTACTTTATCCTGCCTTACTGCAGCAGAGGAATAGTGCAGTGACCTTGGCATACCTAAGAACAATGGGCATATATCTGTCATTTGTTAAGAACAATGGACATATTGGTGTCATCTGTTTCCATGAAAAAGAAAAATTACTACACGGTAGTGTTCGGGGGCTCAGGCCACATTTGGGATTTTCTTGGGATC... |
Task1_train_10553 | Here is a variant affecting KCNQ5 (potassium voltage-gated channel subfamily Q member 5) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Intellectual disability, autosomal dominant 46 | TAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCAGCCTAGTCTCAAATTTTTTTCCTAGTCATATACTAATATATATTTCTATTAAAATAAAATCACATTGTACATACTGTTTTGCAACTGGCCTTTATTCACTTAAAATATGTCTTTGGTGTCAGTGTCAACACATTTAGTTCCTTCTTGTTTCCAACAGCTGCCAAGAGTGGTAACTCTCTTTGGCTCTCT... | TAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCAGCCTAGTCTCAAATTTTTTTCCTAGTCATATACTAATATATATTTCTATTAAAATAAAATCACATTGTACATACTGTTTTGCAACTGGCCTTTATTCACTTAAAATATGTCTTTGGTGTCAGTGTCAACACATTTAGTTCCTTCTTGTTTCCAACAGCTGCCAAGAGTGGTAACTCTCTTTGGCTCTCT... |
Task1_train_10554 | This gene mutation involves KCNQ5 (potassium voltage-gated channel subfamily Q member 5) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; Intellectual disability, autosomal dominant 46 | CAGGATGAGTTCGTGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCAAGGACAGAAAATCAAACACCACATGTTCTCATTCATAGGTGGGAATTGAACAATGAGAACACTTGGACACAGGATGGGGAACATCACATACTGGGGCCTGTCATGGGGGGGGGGGAGAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATATAACAAACCTGCACATTGTGCACATGTACCCTAGAACTTAAAGTA... | CAGGATGAGTTCGTGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCAAGGACAGAAAATCAAACACCACATGTTCTCATTCATAGGTGGGAATTGAACAATGAGAACACTTGGACACAGGATGGGGAACATCACATACTGGGGCCTGTCATGGGGGGGGGGGAGAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATATAACAAACCTGCACATTGTGCACATGTACCCTAGAACTTAAAGTA... |
Task1_train_10555 | This gene mutation involves KCNQ5 (potassium voltage-gated channel subfamily Q member 5) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TGCTCAAAATGGTAGCTAGTGCTGTTAATTCAATGTCTGCAAAATCTAAATTATGCTCCATACAAGTGGATTATACACATATATGCACATAAATGCATGTATATATACTACATATTATAAATATATGCCAGAAATTTTGGTATTTCATATTCTCTTACATGTCTACACTTTATGAAAAGTAGTATTAAAGGGAAAATAAAGAAATCTTTCCTAAATGATCTTACACAGCAGAAAAAAATTAGAAGTTACAAATGACTTAAGTTGTTCTGGATTTAGAAATGGAGGGGCATTTTTATAACACCTAAATGGAGGGAAATGTT... | TGCTCAAAATGGTAGCTAGTGCTGTTAATTCAATGTCTGCAAAATCTAAATTATGCTCCATACAAGTGGATTATACACATATATGCACATAAATGCATGTATATATACTACATATTATAAATATATGCCAGAAATTTTGGTATTTCATATTCTCTTACATGTCTACACTTTATGAAAAGTAGTATTAAAGGGAAAATAAAGAAATCTTTCCTAAATGATCTTACACAGCAGAAAAAAATTAGAAGTTACAAATGACTTAAGTTGTTCTGGATTTAGAAATGGAGGGGCATTTTTATAACACCTAAATGGAGGGAAATGTT... |
Task1_train_10556 | The gene KCNQ5 (potassium voltage-gated channel subfamily Q member 5) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Intellectual disability, autosomal dominant 46 | GCTCAAAATGGTAGCTAGTGCTGTTAATTCAATGTCTGCAAAATCTAAATTATGCTCCATACAAGTGGATTATACACATATATGCACATAAATGCATGTATATATACTACATATTATAAATATATGCCAGAAATTTTGGTATTTCATATTCTCTTACATGTCTACACTTTATGAAAAGTAGTATTAAAGGGAAAATAAAGAAATCTTTCCTAAATGATCTTACACAGCAGAAAAAAATTAGAAGTTACAAATGACTTAAGTTGTTCTGGATTTAGAAATGGAGGGGCATTTTTATAACACCTAAATGGAGGGAAATGTTG... | GCTCAAAATGGTAGCTAGTGCTGTTAATTCAATGTCTGCAAAATCTAAATTATGCTCCATACAAGTGGATTATACACATATATGCACATAAATGCATGTATATATACTACATATTATAAATATATGCCAGAAATTTTGGTATTTCATATTCTCTTACATGTCTACACTTTATGAAAAGTAGTATTAAAGGGAAAATAAAGAAATCTTTCCTAAATGATCTTACACAGCAGAAAAAAATTAGAAGTTACAAATGACTTAAGTTGTTCTGGATTTAGAAATGGAGGGGCATTTTTATAACACCTAAATGGAGGGAAATGTTG... |
Task1_train_10557 | A variant affecting Chromosome 6, within the gene KCNQ5 (potassium voltage-gated channel subfamily Q member 5), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Intellectual disability, autosomal dominant 46 | GCTCAAAATGGTAGCTAGTGCTGTTAATTCAATGTCTGCAAAATCTAAATTATGCTCCATACAAGTGGATTATACACATATATGCACATAAATGCATGTATATATACTACATATTATAAATATATGCCAGAAATTTTGGTATTTCATATTCTCTTACATGTCTACACTTTATGAAAAGTAGTATTAAAGGGAAAATAAAGAAATCTTTCCTAAATGATCTTACACAGCAGAAAAAAATTAGAAGTTACAAATGACTTAAGTTGTTCTGGATTTAGAAATGGAGGGGCATTTTTATAACACCTAAATGGAGGGAAATGTTG... | GCTCAAAATGGTAGCTAGTGCTGTTAATTCAATGTCTGCAAAATCTAAATTATGCTCCATACAAGTGGATTATACACATATATGCACATAAATGCATGTATATATACTACATATTATAAATATATGCCAGAAATTTTGGTATTTCATATTCTCTTACATGTCTACACTTTATGAAAAGTAGTATTAAAGGGAAAATAAAGAAATCTTTCCTAAATGATCTTACACAGCAGAAAAAAATTAGAAGTTACAAATGACTTAAGTTGTTCTGGATTTAGAAATGGAGGGGCATTTTTATAACACCTAAATGGAGGGAAATGTTG... |
Task1_train_10558 | Given this context: Chromosome 6, gene KCNQ5 (potassium voltage-gated channel subfamily Q member 5) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | AAAAGGTAATAGATAAAATCAAATATAGTGAGGACCAATTGTAATGATATCTATGTCAACTTGAGCTATTCATTAATCTGAATAAAGGTGCAGAAGTGAGCATATGCTTCCTGAACTAGATCATTGTAAATTTAAATTATGGAACAGATGTGTTGAAACTAAAAAGAGATTTGAAACTTTTACAATTTAAAAAAAAAAAAAGCTTGAGAAAAGTAGATATTTTTGGGCACCATCCCTTTGACAGATTTGTTTAAATAATTGAAGGCTTTGGGATGACATGGAAAACCTAGCCTGAGAATTAAAAGATGCAGGTTTATGAT... | AAAAGGTAATAGATAAAATCAAATATAGTGAGGACCAATTGTAATGATATCTATGTCAACTTGAGCTATTCATTAATCTGAATAAAGGTGCAGAAGTGAGCATATGCTTCCTGAACTAGATCATTGTAAATTTAAATTATGGAACAGATGTGTTGAAACTAAAAAGAGATTTGAAACTTTTACAATTTAAAAAAAAAAAAAGCTTGAGAAAAGTAGATATTTTTGGGCACCATCCCTTTGACAGATTTGTTTAAATAATTGAAGGCTTTGGGATGACATGGAAAACCTAGCCTGAGAATTAAAAGATGCAGGTTTATGAT... |
Task1_train_10559 | Gene KCNQ5 (potassium voltage-gated channel subfamily Q member 5) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Intellectual disability, autosomal dominant 46 | CTTTCTCTGATAGTGTTGATCAAATTCTTGGAAAAGGGCAAATCACATCAGATAAGAAGAGCCGAGAGAAAATAACAGCAGAACATGAGACCACAGACGATCTCAGTATGCTCGGTCGGGTGGTCAAGGTTGAAAAACAGGTACAACTCAACTACGCTGGGTATCTTTTTAGCCAGAATTTTTTTAATCAAAATTTATTATAGGCAATTGTATGTATTCCAGTGATTATTTTAAAATAAATAAAATCACAAAAAGAGTGAATAAAATTAAATTTTCTTTGTGTGTAGACAGTGCTCTCTGAAACACTCTGGATTTCCCTT... | CTTTCTCTGATAGTGTTGATCAAATTCTTGGAAAAGGGCAAATCACATCAGATAAGAAGAGCCGAGAGAAAATAACAGCAGAACATGAGACCACAGACGATCTCAGTATGCTCGGTCGGGTGGTCAAGGTTGAAAAACAGGTACAACTCAACTACGCTGGGTATCTTTTTAGCCAGAATTTTTTTAATCAAAATTTATTATAGGCAATTGTATGTATTCCAGTGATTATTTTAAAATAAATAAAATCACAAAAAGAGTGAATAAAATTAAATTTTCTTTGTGTGTAGACAGTGCTCTCTGAAACACTCTGGATTTCCCTT... |
Task1_train_10560 | Given this context: Chromosome 6, gene KHDC3L (KH domain containing 3 like, subcortical maternal complex member) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hydatidiform mole, recurrent, 2 | TGAGCCACCATGCCCGCCCTGTTTTTTGAGTTTTTAATAAAAGTCATTGTGACTGGTGTATGATGGTATATCGGTGTGATTTTAATTTGCATTCCTCTTCTGATTAGTGATGCGGAGCATTTTTTCATGTGTTTGTAGGCTGCCTGTATTTCTTCTTTTGAGAAATATCTCTTCATGCTCCTTGCCCAGTTTTGTTTGTTTGTTTTGTGGAGACAGTCTCGCTCTATCCAGCAGGCTGCAGTTCAGTAGCCTGATATCGGCTCATTGCAACCTCCGCCTCAGGAGTTCAAGCGATTCTCATGCCTCAGCTTCCTGAGTAG... | TGAGCCACCATGCCCGCCCTGTTTTTTGAGTTTTTAATAAAAGTCATTGTGACTGGTGTATGATGGTATATCGGTGTGATTTTAATTTGCATTCCTCTTCTGATTAGTGATGCGGAGCATTTTTTCATGTGTTTGTAGGCTGCCTGTATTTCTTCTTTTGAGAAATATCTCTTCATGCTCCTTGCCCAGTTTTGTTTGTTTGTTTTGTGGAGACAGTCTCGCTCTATCCAGCAGGCTGCAGTTCAGTAGCCTGATATCGGCTCATTGCAACCTCCGCCTCAGGAGTTCAAGCGATTCTCATGCCTCAGCTTCCTGAGTAG... |
Task1_train_10561 | A variant affecting Chromosome 6, within the gene KHDC3L (KH domain containing 3 like, subcortical maternal complex member), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hydatidiform mole, recurrent, 2 | AGCCACCATGCCCGCCCTGTTTTTTGAGTTTTTAATAAAAGTCATTGTGACTGGTGTATGATGGTATATCGGTGTGATTTTAATTTGCATTCCTCTTCTGATTAGTGATGCGGAGCATTTTTTCATGTGTTTGTAGGCTGCCTGTATTTCTTCTTTTGAGAAATATCTCTTCATGCTCCTTGCCCAGTTTTGTTTGTTTGTTTTGTGGAGACAGTCTCGCTCTATCCAGCAGGCTGCAGTTCAGTAGCCTGATATCGGCTCATTGCAACCTCCGCCTCAGGAGTTCAAGCGATTCTCATGCCTCAGCTTCCTGAGTAGCT... | AGCCACCATGCCCGCCCTGTTTTTTGAGTTTTTAATAAAAGTCATTGTGACTGGTGTATGATGGTATATCGGTGTGATTTTAATTTGCATTCCTCTTCTGATTAGTGATGCGGAGCATTTTTTCATGTGTTTGTAGGCTGCCTGTATTTCTTCTTTTGAGAAATATCTCTTCATGCTCCTTGCCCAGTTTTGTTTGTTTGTTTTGTGGAGACAGTCTCGCTCTATCCAGCAGGCTGCAGTTCAGTAGCCTGATATCGGCTCATTGCAACCTCCGCCTCAGGAGTTCAAGCGATTCTCATGCCTCAGCTTCCTGAGTAGCT... |
Task1_train_10562 | Here is a mutation in MTO1 (mitochondrial tRNA translation optimization 1) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | ACAGAGTTTTACCATGTTGACCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCCACACACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACGGCGCCCAGCCCAAACAAAGCAAGGAGTCCCTGGGTGGGCACAAAAACACTTTTTTTTTTTCTTTTTTTTTTTTTTGAGACGGAATCTCGCCCTGTCATCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCC... | ACAGAGTTTTACCATGTTGACCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCCACACACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACGGCGCCCAGCCCAAACAAAGCAAGGAGTCCCTGGGTGGGCACAAAAACACTTTTTTTTTTTCTTTTTTTTTTTTTTGAGACGGAATCTCGCCCTGTCATCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCC... |
Task1_train_10563 | A change on Chromosome 6 affects gene SLC17A5 (solute carrier family 17 member 5). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Salla disease | TTCCAAAACTAACATCAGCTCGTAACTCAAATAGGTCAAGTAAATCATACCAACTTGAAAAACAGGTTATCAGGAAGTGTTTCAGAACTGTGGTTCAGTGATTTGGAAGATATATTTTTAAAACATTATTAGGCTACTATTATTACATTTTGAATTTGTTACATTATAATTTAGTTAAAATTTTAAACTTACCAAAAAAGTAGAAGACATAAGTCCAATTCATATAGTAGCAAATTATTCCAGAAAGAGGAAGAGAAATTACTGTCCCAAGCTGTGCTCCTAGAACAACACATAAGACTATTTTATAAACTTTGGAGAGA... | TTCCAAAACTAACATCAGCTCGTAACTCAAATAGGTCAAGTAAATCATACCAACTTGAAAAACAGGTTATCAGGAAGTGTTTCAGAACTGTGGTTCAGTGATTTGGAAGATATATTTTTAAAACATTATTAGGCTACTATTATTACATTTTGAATTTGTTACATTATAATTTAGTTAAAATTTTAAACTTACCAAAAAAGTAGAAGACATAAGTCCAATTCATATAGTAGCAAATTATTCCAGAAAGAGGAAGAGAAATTACTGTCCCAAGCTGTGCTCCTAGAACAACACATAAGACTATTTTATAAACTTTGGAGAGA... |
Task1_train_10564 | Consider a variant on Chromosome 6 in gene SLC17A5 (solute carrier family 17 member 5). Determine its clinical classification and disease relevance. | Pathogenic; Salla disease | CCATTTCAGACGAAGCACTTAAACAAGCACATGGAACAATTCCAAAGAGCAAGAATTTAAATCAAGCCACAAACTTCATGTGAATAGAACCTGTGTTTTCATTAGTAACAGCACACAGCAAGGTACTAATGAAGATTTAGTGACTGATCTGAGTATCTGACATTTTTAATGCAGTGTAGCTGTATAACAAAGCCAACATGTCAAGAACCATTCCGGGATTTCTTTCTACTGCTGATATAAGGCAGATGAAGATAAGTAGCAGGGTCAACAAAAGCACTTTGCAAAGAAAAAGACACAAAGCAAACTCTTACTTTTCCTTA... | CCATTTCAGACGAAGCACTTAAACAAGCACATGGAACAATTCCAAAGAGCAAGAATTTAAATCAAGCCACAAACTTCATGTGAATAGAACCTGTGTTTTCATTAGTAACAGCACACAGCAAGGTACTAATGAAGATTTAGTGACTGATCTGAGTATCTGACATTTTTAATGCAGTGTAGCTGTATAACAAAGCCAACATGTCAAGAACCATTCCGGGATTTCTTTCTACTGCTGATATAAGGCAGATGAAGATAAGTAGCAGGGTCAACAAAAGCACTTTGCAAAGAAAAAGACACAAAGCAAACTCTTACTTTTCCTTA... |
Task1_train_10565 | Assess the clinical impact of this variant on gene SLC17A5 (solute carrier family 17 member 5), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Sialic acid storage disease, severe infantile type | CCATTTCAGACGAAGCACTTAAACAAGCACATGGAACAATTCCAAAGAGCAAGAATTTAAATCAAGCCACAAACTTCATGTGAATAGAACCTGTGTTTTCATTAGTAACAGCACACAGCAAGGTACTAATGAAGATTTAGTGACTGATCTGAGTATCTGACATTTTTAATGCAGTGTAGCTGTATAACAAAGCCAACATGTCAAGAACCATTCCGGGATTTCTTTCTACTGCTGATATAAGGCAGATGAAGATAAGTAGCAGGGTCAACAAAAGCACTTTGCAAAGAAAAAGACACAAAGCAAACTCTTACTTTTCCTTA... | CCATTTCAGACGAAGCACTTAAACAAGCACATGGAACAATTCCAAAGAGCAAGAATTTAAATCAAGCCACAAACTTCATGTGAATAGAACCTGTGTTTTCATTAGTAACAGCACACAGCAAGGTACTAATGAAGATTTAGTGACTGATCTGAGTATCTGACATTTTTAATGCAGTGTAGCTGTATAACAAAGCCAACATGTCAAGAACCATTCCGGGATTTCTTTCTACTGCTGATATAAGGCAGATGAAGATAAGTAGCAGGGTCAACAAAAGCACTTTGCAAAGAAAAAGACACAAAGCAAACTCTTACTTTTCCTTA... |
Task1_train_10566 | The gene SLC17A5 (solute carrier family 17 member 5) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Salla disease | CCATTTCAGACGAAGCACTTAAACAAGCACATGGAACAATTCCAAAGAGCAAGAATTTAAATCAAGCCACAAACTTCATGTGAATAGAACCTGTGTTTTCATTAGTAACAGCACACAGCAAGGTACTAATGAAGATTTAGTGACTGATCTGAGTATCTGACATTTTTAATGCAGTGTAGCTGTATAACAAAGCCAACATGTCAAGAACCATTCCGGGATTTCTTTCTACTGCTGATATAAGGCAGATGAAGATAAGTAGCAGGGTCAACAAAAGCACTTTGCAAAGAAAAAGACACAAAGCAAACTCTTACTTTTCCTTA... | CCATTTCAGACGAAGCACTTAAACAAGCACATGGAACAATTCCAAAGAGCAAGAATTTAAATCAAGCCACAAACTTCATGTGAATAGAACCTGTGTTTTCATTAGTAACAGCACACAGCAAGGTACTAATGAAGATTTAGTGACTGATCTGAGTATCTGACATTTTTAATGCAGTGTAGCTGTATAACAAAGCCAACATGTCAAGAACCATTCCGGGATTTCTTTCTACTGCTGATATAAGGCAGATGAAGATAAGTAGCAGGGTCAACAAAAGCACTTTGCAAAGAAAAAGACACAAAGCAAACTCTTACTTTTCCTTA... |
Task1_train_10567 | Here is a mutation in SLC17A5 (solute carrier family 17 member 5) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Sialic acid storage disease, severe infantile type | CCATTTCAGACGAAGCACTTAAACAAGCACATGGAACAATTCCAAAGAGCAAGAATTTAAATCAAGCCACAAACTTCATGTGAATAGAACCTGTGTTTTCATTAGTAACAGCACACAGCAAGGTACTAATGAAGATTTAGTGACTGATCTGAGTATCTGACATTTTTAATGCAGTGTAGCTGTATAACAAAGCCAACATGTCAAGAACCATTCCGGGATTTCTTTCTACTGCTGATATAAGGCAGATGAAGATAAGTAGCAGGGTCAACAAAAGCACTTTGCAAAGAAAAAGACACAAAGCAAACTCTTACTTTTCCTTA... | CCATTTCAGACGAAGCACTTAAACAAGCACATGGAACAATTCCAAAGAGCAAGAATTTAAATCAAGCCACAAACTTCATGTGAATAGAACCTGTGTTTTCATTAGTAACAGCACACAGCAAGGTACTAATGAAGATTTAGTGACTGATCTGAGTATCTGACATTTTTAATGCAGTGTAGCTGTATAACAAAGCCAACATGTCAAGAACCATTCCGGGATTTCTTTCTACTGCTGATATAAGGCAGATGAAGATAAGTAGCAGGGTCAACAAAAGCACTTTGCAAAGAAAAAGACACAAAGCAAACTCTTACTTTTCCTTA... |
Task1_train_10568 | A change on Chromosome 6 affects gene LOC129996727, SLC17A5 (ATAC-STARR-seq lymphoblastoid silent region 17338| solute carrier family 17 member 5). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Sialic acid storage disease, severe infantile type | TGCTGTGATAATAGTACTGTAGTTATGTTAAAAAGAGTCCTTATCTTTTAGAGGTAAATAATTGAAATATTTACATATGAAATGACATGGTATCTGGGATTTGCTTCAAAATACACAGTATGTATGAGCATAAGGCAAGACTGGCCATGAATTGATAACTTTAATCTGGGTGCTGGTTACATGGGGGCTCATTATATACTTCTCTTAATTGCCATATATGCTCCTTCTCTATAAAACTTATCATATTCTAAATAGCAAAAACAGTATGTTACTATTATTTCCACTTCACTTGCTCTCCAGTGGGTATGTAAAGAGGGAAA... | TGCTGTGATAATAGTACTGTAGTTATGTTAAAAAGAGTCCTTATCTTTTAGAGGTAAATAATTGAAATATTTACATATGAAATGACATGGTATCTGGGATTTGCTTCAAAATACACAGTATGTATGAGCATAAGGCAAGACTGGCCATGAATTGATAACTTTAATCTGGGTGCTGGTTACATGGGGGCTCATTATATACTTCTCTTAATTGCCATATATGCTCCTTCTCTATAAAACTTATCATATTCTAAATAGCAAAAACAGTATGTTACTATTATTTCCACTTCACTTGCTCTCCAGTGGGTATGTAAAGAGGGAAA... |
Task1_train_10569 | Consider a variant on Chromosome 6 in gene LOC129996727, SLC17A5 (ATAC-STARR-seq lymphoblastoid silent region 17338| solute carrier family 17 member 5). Determine its clinical classification and disease relevance. | Pathogenic; Salla disease | TGCTGTGATAATAGTACTGTAGTTATGTTAAAAAGAGTCCTTATCTTTTAGAGGTAAATAATTGAAATATTTACATATGAAATGACATGGTATCTGGGATTTGCTTCAAAATACACAGTATGTATGAGCATAAGGCAAGACTGGCCATGAATTGATAACTTTAATCTGGGTGCTGGTTACATGGGGGCTCATTATATACTTCTCTTAATTGCCATATATGCTCCTTCTCTATAAAACTTATCATATTCTAAATAGCAAAAACAGTATGTTACTATTATTTCCACTTCACTTGCTCTCCAGTGGGTATGTAAAGAGGGAAA... | TGCTGTGATAATAGTACTGTAGTTATGTTAAAAAGAGTCCTTATCTTTTAGAGGTAAATAATTGAAATATTTACATATGAAATGACATGGTATCTGGGATTTGCTTCAAAATACACAGTATGTATGAGCATAAGGCAAGACTGGCCATGAATTGATAACTTTAATCTGGGTGCTGGTTACATGGGGGCTCATTATATACTTCTCTTAATTGCCATATATGCTCCTTCTCTATAAAACTTATCATATTCTAAATAGCAAAAACAGTATGTTACTATTATTTCCACTTCACTTGCTCTCCAGTGGGTATGTAAAGAGGGAAA... |
Task1_train_10570 | This alteration in LOC129996727, SLC17A5 (ATAC-STARR-seq lymphoblastoid silent region 17338| solute carrier family 17 member 5) on Chromosome 6 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Salla disease | TGCTGTGATAATAGTACTGTAGTTATGTTAAAAAGAGTCCTTATCTTTTAGAGGTAAATAATTGAAATATTTACATATGAAATGACATGGTATCTGGGATTTGCTTCAAAATACACAGTATGTATGAGCATAAGGCAAGACTGGCCATGAATTGATAACTTTAATCTGGGTGCTGGTTACATGGGGGCTCATTATATACTTCTCTTAATTGCCATATATGCTCCTTCTCTATAAAACTTATCATATTCTAAATAGCAAAAACAGTATGTTACTATTATTTCCACTTCACTTGCTCTCCAGTGGGTATGTAAAGAGGGAAA... | TGCTGTGATAATAGTACTGTAGTTATGTTAAAAAGAGTCCTTATCTTTTAGAGGTAAATAATTGAAATATTTACATATGAAATGACATGGTATCTGGGATTTGCTTCAAAATACACAGTATGTATGAGCATAAGGCAAGACTGGCCATGAATTGATAACTTTAATCTGGGTGCTGGTTACATGGGGGCTCATTATATACTTCTCTTAATTGCCATATATGCTCCTTCTCTATAAAACTTATCATATTCTAAATAGCAAAAACAGTATGTTACTATTATTTCCACTTCACTTGCTCTCCAGTGGGTATGTAAAGAGGGAAA... |
Task1_train_10571 | Mutation context: Chromosome 6, Gene LOC129996727, SLC17A5 (ATAC-STARR-seq lymphoblastoid silent region 17338| solute carrier family 17 member 5). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Salla disease | TGCTGTGATAATAGTACTGTAGTTATGTTAAAAAGAGTCCTTATCTTTTAGAGGTAAATAATTGAAATATTTACATATGAAATGACATGGTATCTGGGATTTGCTTCAAAATACACAGTATGTATGAGCATAAGGCAAGACTGGCCATGAATTGATAACTTTAATCTGGGTGCTGGTTACATGGGGGCTCATTATATACTTCTCTTAATTGCCATATATGCTCCTTCTCTATAAAACTTATCATATTCTAAATAGCAAAAACAGTATGTTACTATTATTTCCACTTCACTTGCTCTCCAGTGGGTATGTAAAGAGGGAAA... | TGCTGTGATAATAGTACTGTAGTTATGTTAAAAAGAGTCCTTATCTTTTAGAGGTAAATAATTGAAATATTTACATATGAAATGACATGGTATCTGGGATTTGCTTCAAAATACACAGTATGTATGAGCATAAGGCAAGACTGGCCATGAATTGATAACTTTAATCTGGGTGCTGGTTACATGGGGGCTCATTATATACTTCTCTTAATTGCCATATATGCTCCTTCTCTATAAAACTTATCATATTCTAAATAGCAAAAACAGTATGTTACTATTATTTCCACTTCACTTGCTCTCCAGTGGGTATGTAAAGAGGGAAA... |
Task1_train_10572 | Here is a genetic alteration in COL12A1 (collagen type XII alpha 1 chain) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Bethlem myopathy 2 | AAACTCAAAAGGAGGCATGGGAACAAATAAAGTTCACTGGCATATCATCTACCATTTTGTATTATCTTAGGGCAAATCTTTGCTCCCTCTGAATGGCCTACCTCTCTGCCCAATGGTGTCTTGGAGGTGTTAAGGTTGATAGATTTATGTTTAGTGACAGCTGTTATAGTACTGGCTTCCTCAGATCCTGCTGCTAGTCATATATTTTAACTTGATTGATTAATCAAAATACAAACTACTCTCAGACTATTATTGGAACCATAAGATGCTGGAAAGTCATTAGTTCCTTTGTTCTGAGAAACTCTTAAAATTTCTGGGTT... | AAACTCAAAAGGAGGCATGGGAACAAATAAAGTTCACTGGCATATCATCTACCATTTTGTATTATCTTAGGGCAAATCTTTGCTCCCTCTGAATGGCCTACCTCTCTGCCCAATGGTGTCTTGGAGGTGTTAAGGTTGATAGATTTATGTTTAGTGACAGCTGTTATAGTACTGGCTTCCTCAGATCCTGCTGCTAGTCATATATTTTAACTTGATTGATTAATCAAAATACAAACTACTCTCAGACTATTATTGGAACCATAAGATGCTGGAAAGTCATTAGTTCCTTTGTTCTGAGAAACTCTTAAAATTTCTGGGTT... |
Task1_train_10573 | Given a variant located on Chromosome 6 and affecting COL12A1 (collagen type XII alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Bethlem myopathy 2 | AAAGTTCACTGGCATATCATCTACCATTTTGTATTATCTTAGGGCAAATCTTTGCTCCCTCTGAATGGCCTACCTCTCTGCCCAATGGTGTCTTGGAGGTGTTAAGGTTGATAGATTTATGTTTAGTGACAGCTGTTATAGTACTGGCTTCCTCAGATCCTGCTGCTAGTCATATATTTTAACTTGATTGATTAATCAAAATACAAACTACTCTCAGACTATTATTGGAACCATAAGATGCTGGAAAGTCATTAGTTCCTTTGTTCTGAGAAACTCTTAAAATTTCTGGGTTCTTTTTATTAAAGCATTTGTGGTCTCCT... | AAAGTTCACTGGCATATCATCTACCATTTTGTATTATCTTAGGGCAAATCTTTGCTCCCTCTGAATGGCCTACCTCTCTGCCCAATGGTGTCTTGGAGGTGTTAAGGTTGATAGATTTATGTTTAGTGACAGCTGTTATAGTACTGGCTTCCTCAGATCCTGCTGCTAGTCATATATTTTAACTTGATTGATTAATCAAAATACAAACTACTCTCAGACTATTATTGGAACCATAAGATGCTGGAAAGTCATTAGTTCCTTTGTTCTGAGAAACTCTTAAAATTTCTGGGTTCTTTTTATTAAAGCATTTGTGGTCTCCT... |
Task1_train_10574 | A variant affecting Chromosome 6, within the gene MYO6 (myosin VI), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 22 | CTGAAGAATAAATCTGCTCAGTCTTTGGAATATTGTGCTGAATTACTGGGTTTGGACCAAGATGATCTTCGAGTAAGTTTGACCACAAGAGTCATGCTAACAACAGCAGGGGGCACCAAAGGAACAGTTATAAAGTAAGTTCCTTAAGTAATTGCACTGCAAAAATTTTGCCTTGCAGTTTGTCAAGGAAAAACATAAGTTACATTCTGTTTAAAACCTGAGCTTGGTAGATCAAAATTCTCTACATCTCAGTGTAGTAATCCACCATATAAATAAATGGAGTTTAACATAGCTCTTAAAGTTGTTCCTTGCTGATATTT... | CTGAAGAATAAATCTGCTCAGTCTTTGGAATATTGTGCTGAATTACTGGGTTTGGACCAAGATGATCTTCGAGTAAGTTTGACCACAAGAGTCATGCTAACAACAGCAGGGGGCACCAAAGGAACAGTTATAAAGTAAGTTCCTTAAGTAATTGCACTGCAAAAATTTTGCCTTGCAGTTTGTCAAGGAAAAACATAAGTTACATTCTGTTTAAAACCTGAGCTTGGTAGATCAAAATTCTCTACATCTCAGTGTAGTAATCCACCATATAAATAAATGGAGTTTAACATAGCTCTTAAAGTTGTTCCTTGCTGATATTT... |
Task1_train_10575 | A change on Chromosome 6 affects gene IMPG1 (interphotoreceptor matrix proteoglycan 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Vitelliform macular dystrophy 4 | TTTACTTTTAAAGACATTAATTTGTATTTATCAAACCCCCATAAATAAATACATAGGTAAATCTTTAAGTCATAAAAACAAATTTATAAAGTATGATCATGTTTATATATATTTCTGAAAGTCAAATAATATGTTCTGCTTTAATTATTCTTTTCAGTTCATGAAAATTTGTTTGTTTTATTAAAAACAGAGCCCATCCTGATTCTAAATGAAACAAAAATCTAACTAAATTGAAGGAAACTTTGAACTTTGAGATATTTAAAATGCAAGTTGTATTATATTTTATTAATACGGATACTGAAAGTGGGTTAAGCAAGTGC... | TTTACTTTTAAAGACATTAATTTGTATTTATCAAACCCCCATAAATAAATACATAGGTAAATCTTTAAGTCATAAAAACAAATTTATAAAGTATGATCATGTTTATATATATTTCTGAAAGTCAAATAATATGTTCTGCTTTAATTATTCTTTTCAGTTCATGAAAATTTGTTTGTTTTATTAAAAACAGAGCCCATCCTGATTCTAAATGAAACAAAAATCTAACTAAATTGAAGGAAACTTTGAACTTTGAGATATTTAAAATGCAAGTTGTATTATATTTTATTAATACGGATACTGAAAGTGGGTTAAGCAAGTGC... |
Task1_train_10576 | Gene IMPG1 (interphotoreceptor matrix proteoglycan 1), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Vitelliform macular dystrophy 4 | TCAGTTGCATTTATACAAACAATTACTGAGTAGTTAACTGCATCCCAAACTCTGTATTAGAAGGTTAGGCATCAGAGATTAAAAGAACAGCTCCTGTTCTCTAGGAGAAGCTCATAGCCTGGTGGTGATGAGTGGGGTGAATGAAGAGGAAGGAGTAGAGATAGCAAAGGCCATAGACACATAAGCAAGCAGTCTCAAGAAAGGGTGTTGTGAAAGCAATGAGTGAGCCCAGGAGAGACACTGGATGCAGAATGGATAGAGGGAACTTTCCATGTTGAAGTATGTAAAACAAGACTTGGAGAAGGGCATTCTAGACAGAG... | TCAGTTGCATTTATACAAACAATTACTGAGTAGTTAACTGCATCCCAAACTCTGTATTAGAAGGTTAGGCATCAGAGATTAAAAGAACAGCTCCTGTTCTCTAGGAGAAGCTCATAGCCTGGTGGTGATGAGTGGGGTGAATGAAGAGGAAGGAGTAGAGATAGCAAAGGCCATAGACACATAAGCAAGCAGTCTCAAGAAAGGGTGTTGTGAAAGCAATGAGTGAGCCCAGGAGAGACACTGGATGCAGAATGGATAGAGGGAACTTTCCATGTTGAAGTATGTAAAACAAGACTTGGAGAAGGGCATTCTAGACAGAG... |
Task1_train_10577 | This sequence variant lies in PHIP (PHIP subunit of CUL4-Ring ligase complex) on Chromosome 6. Is it clinically significant, and what condition might it cause if any? | Pathogenic; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | TCTGTAAAATAAGCATAATAGTTCCTACCTATAGAACATTTAAGGTTTTAAAAGAGTAAATAAATAGAAAATGCTTAGAACAGTGTCTGGCATACAGGAATTACTCACAAAGCAAATGTTATTTACCATCAATCATTCTTACACTTTCATTACCTACCACAGGCCTGACTGACAATGTACTGAAAGAACAAGCATAACGTGTTCTCCTTATTATGTGGATCTATAGTTTTTCAAAGACAGGATAAACTTTTCCTAAATGGGAAAACTCCTATAATATTTTATCTTTCCCTTCTTGCAGGAATCCTATTATACCACCTTAG... | TCTGTAAAATAAGCATAATAGTTCCTACCTATAGAACATTTAAGGTTTTAAAAGAGTAAATAAATAGAAAATGCTTAGAACAGTGTCTGGCATACAGGAATTACTCACAAAGCAAATGTTATTTACCATCAATCATTCTTACACTTTCATTACCTACCACAGGCCTGACTGACAATGTACTGAAAGAACAAGCATAACGTGTTCTCCTTATTATGTGGATCTATAGTTTTTCAAAGACAGGATAAACTTTTCCTAAATGGGAAAACTCCTATAATATTTTATCTTTCCCTTCTTGCAGGAATCCTATTATACCACCTTAG... |
Task1_train_10578 | Here is a mutation in LOC129996745, PHIP (ATAC-STARR-seq lymphoblastoid silent region 17346| PHIP subunit of CUL4-Ring ligase complex) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | TGAAAGTAACCCAAATCACTCCTTGAAAATTAACACACGTTCAGTGTGAAAATGAATACACTAATACACTGTTAAATCTCCATTAGATGTATTAAACCTCAGTACCCTTGCTTATTTCAACAGCCTTGAGCGGTTATCAACATCTTATATTAAACCACAAGAGATTTATACACAAAAGTTAGGAAATACACTACATACCAAAAAAAGCGCCATTATAATCATGTCCTGCTTTCACCTCACAAAAGACACTCATTCTAAGCTCGCTGAAACTTCCTAGTCATTAGAGAAGTTCTGATGAAGTAACATTAGTAATCATAACT... | TGAAAGTAACCCAAATCACTCCTTGAAAATTAACACACGTTCAGTGTGAAAATGAATACACTAATACACTGTTAAATCTCCATTAGATGTATTAAACCTCAGTACCCTTGCTTATTTCAACAGCCTTGAGCGGTTATCAACATCTTATATTAAACCACAAGAGATTTATACACAAAAGTTAGGAAATACACTACATACCAAAAAAAGCGCCATTATAATCATGTCCTGCTTTCACCTCACAAAAGACACTCATTCTAAGCTCGCTGAAACTTCCTAGTCATTAGAGAAGTTCTGATGAAGTAACATTAGTAATCATAACT... |
Task1_train_10579 | This gene mutation involves LCA5 (lebercilin LCA5) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; Leber congenital amaurosis 1 | ATGTATACTGTAAAAAGACCTATATTTTAGTCCTTTTAAAGTTAACAATTACTTTGTTATTCCTCACTTTGTGATTTCAAAAAGACAAATCAACATGATCTAGTCTCAATGACAGCACAAATACAGAAACACAACTTAGCGGATACAACTAACTTGTCTGAATTATCAAACAAAAATAAATAAACAAATAAAAAACTAGAATATACACAGAAATCAAATCAGTTCATCCTTTCTGTTTTATACCTCAAGAAGAGACCTCAGGGTCACTGGGAAACTTATAAGGTATAAAAATATACCATTGTATGAAATATGCTAGGTTG... | ATGTATACTGTAAAAAGACCTATATTTTAGTCCTTTTAAAGTTAACAATTACTTTGTTATTCCTCACTTTGTGATTTCAAAAAGACAAATCAACATGATCTAGTCTCAATGACAGCACAAATACAGAAACACAACTTAGCGGATACAACTAACTTGTCTGAATTATCAAACAAAAATAAATAAACAAATAAAAAACTAGAATATACACAGAAATCAAATCAGTTCATCCTTTCTGTTTTATACCTCAAGAAGAGACCTCAGGGTCACTGGGAAACTTATAAGGTATAAAAATATACCATTGTATGAAATATGCTAGGTTG... |
Task1_train_10580 | Gene LCA5 (lebercilin LCA5) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Leber congenital amaurosis 5 | ATGTATACTGTAAAAAGACCTATATTTTAGTCCTTTTAAAGTTAACAATTACTTTGTTATTCCTCACTTTGTGATTTCAAAAAGACAAATCAACATGATCTAGTCTCAATGACAGCACAAATACAGAAACACAACTTAGCGGATACAACTAACTTGTCTGAATTATCAAACAAAAATAAATAAACAAATAAAAAACTAGAATATACACAGAAATCAAATCAGTTCATCCTTTCTGTTTTATACCTCAAGAAGAGACCTCAGGGTCACTGGGAAACTTATAAGGTATAAAAATATACCATTGTATGAAATATGCTAGGTTG... | ATGTATACTGTAAAAAGACCTATATTTTAGTCCTTTTAAAGTTAACAATTACTTTGTTATTCCTCACTTTGTGATTTCAAAAAGACAAATCAACATGATCTAGTCTCAATGACAGCACAAATACAGAAACACAACTTAGCGGATACAACTAACTTGTCTGAATTATCAAACAAAAATAAATAAACAAATAAAAAACTAGAATATACACAGAAATCAAATCAGTTCATCCTTTCTGTTTTATACCTCAAGAAGAGACCTCAGGGTCACTGGGAAACTTATAAGGTATAAAAATATACCATTGTATGAAATATGCTAGGTTG... |
Task1_train_10581 | The gene LCA5 (lebercilin LCA5) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | CATCCACCAAAAAAATCAAGATATGTTAATATTATTGAAAAAACAAATAATGGAATAATATATAATAAATGAACATGTATAACCAAAACTTATTAAATTTTACCATGAAAAATTTTGATACTGCATGAATTTTATGCAAAAAAAAGTAAAGTATGCTGAAAATTAAGGAAGGGGAAGGAAGAATATGCTATCAAACACGCAAACCCGAAAATTCGTTTAAAATGCTGTTTGAATCACATTTGTTTTGTCCCTAGGTTAGTCTATACTGATTGCAATTTAGTGTTTACAGAAACGTATCAGTTTGGTCTTGTTACTTGGTC... | CATCCACCAAAAAAATCAAGATATGTTAATATTATTGAAAAAACAAATAATGGAATAATATATAATAAATGAACATGTATAACCAAAACTTATTAAATTTTACCATGAAAAATTTTGATACTGCATGAATTTTATGCAAAAAAAAGTAAAGTATGCTGAAAATTAAGGAAGGGGAAGGAAGAATATGCTATCAAACACGCAAACCCGAAAATTCGTTTAAAATGCTGTTTGAATCACATTTGTTTTGTCCCTAGGTTAGTCTATACTGATTGCAATTTAGTGTTTACAGAAACGTATCAGTTTGGTCTTGTTACTTGGTC... |
Task1_train_10582 | A variant was discovered on Chromosome 6, affecting LCA5 (lebercilin LCA5). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | TCCACCAAAAAAATCAAGATATGTTAATATTATTGAAAAAACAAATAATGGAATAATATATAATAAATGAACATGTATAACCAAAACTTATTAAATTTTACCATGAAAAATTTTGATACTGCATGAATTTTATGCAAAAAAAAGTAAAGTATGCTGAAAATTAAGGAAGGGGAAGGAAGAATATGCTATCAAACACGCAAACCCGAAAATTCGTTTAAAATGCTGTTTGAATCACATTTGTTTTGTCCCTAGGTTAGTCTATACTGATTGCAATTTAGTGTTTACAGAAACGTATCAGTTTGGTCTTGTTACTTGGTCTA... | TCCACCAAAAAAATCAAGATATGTTAATATTATTGAAAAAACAAATAATGGAATAATATATAATAAATGAACATGTATAACCAAAACTTATTAAATTTTACCATGAAAAATTTTGATACTGCATGAATTTTATGCAAAAAAAAGTAAAGTATGCTGAAAATTAAGGAAGGGGAAGGAAGAATATGCTATCAAACACGCAAACCCGAAAATTCGTTTAAAATGCTGTTTGAATCACATTTGTTTTGTCCCTAGGTTAGTCTATACTGATTGCAATTTAGTGTTTACAGAAACGTATCAGTTTGGTCTTGTTACTTGGTCTA... |
Task1_train_10583 | Gene ELOVL4 (ELOVL fatty acid elongase 4), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | AGACAGTTTACATTATAATAAACTGATTAACAAAAAAAAATCATATTTTTCCCACAGCAGAAGTATATTTATTGTGCTGAAATCAGGTAGCAGGGAATGAATAGCTCTTGGGAACCAGTACAGAATGTTCACAAAGATTTACAAATCTCAGTCATTACACACTGAGCAACAAAACAAAGGTGTTGAATCCTCTTAGATCAAACTACTTTATATGTTGCAAATTTTCTGTAATTCTCATGACTGCATGCCTTTGGGGAAAAAGTATTTAATTTTAATGCACAATAAATATGTTATAGCTTACAAAATATTCTGAAATAGTT... | AGACAGTTTACATTATAATAAACTGATTAACAAAAAAAAATCATATTTTTCCCACAGCAGAAGTATATTTATTGTGCTGAAATCAGGTAGCAGGGAATGAATAGCTCTTGGGAACCAGTACAGAATGTTCACAAAGATTTACAAATCTCAGTCATTACACACTGAGCAACAAAACAAAGGTGTTGAATCCTCTTAGATCAAACTACTTTATATGTTGCAAATTTTCTGTAATTCTCATGACTGCATGCCTTTGGGGAAAAAGTATTTAATTTTAATGCACAATAAATATGTTATAGCTTACAAAATATTCTGAAATAGTT... |
Task1_train_10584 | An alteration has been detected in ELOVL4 (ELOVL fatty acid elongase 4) on Chromosome 6. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Stargardt disease 3 | TACAATAAATGAATACACATTATTTTTTAATATTTAATCTTGAGTACAGATTAGAAATGAAAAATATAAAGTAGTACTAATGAAAAAGTTTTCCCTTCAGATTAAGCTAGATATTTTTAAAGTTTAGATTTGAGGTTTTACCATATAAATAAAAATGTATGTTCAAATGCAAAGGACTTTCACAGTTGTAGGTTTTCAAATGGAGTACTCCAGTGAGCTTAAATAGGCCCTTAGAACTGTTGCCTATGTTACTTTTAATTCTACTATTCTTGCCTTTAGATGTGCCAATATATATATCTGCAACAAAACAGTACTTATTT... | TACAATAAATGAATACACATTATTTTTTAATATTTAATCTTGAGTACAGATTAGAAATGAAAAATATAAAGTAGTACTAATGAAAAAGTTTTCCCTTCAGATTAAGCTAGATATTTTTAAAGTTTAGATTTGAGGTTTTACCATATAAATAAAAATGTATGTTCAAATGCAAAGGACTTTCACAGTTGTAGGTTTTCAAATGGAGTACTCCAGTGAGCTTAAATAGGCCCTTAGAACTGTTGCCTATGTTACTTTTAATTCTACTATTCTTGCCTTTAGATGTGCCAATATATATATCTGCAACAAAACAGTACTTATTT... |
Task1_train_10585 | This mutation occurs in ELOVL4 (ELOVL fatty acid elongase 4) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | TACAATAAATGAATACACATTATTTTTTAATATTTAATCTTGAGTACAGATTAGAAATGAAAAATATAAAGTAGTACTAATGAAAAAGTTTTCCCTTCAGATTAAGCTAGATATTTTTAAAGTTTAGATTTGAGGTTTTACCATATAAATAAAAATGTATGTTCAAATGCAAAGGACTTTCACAGTTGTAGGTTTTCAAATGGAGTACTCCAGTGAGCTTAAATAGGCCCTTAGAACTGTTGCCTATGTTACTTTTAATTCTACTATTCTTGCCTTTAGATGTGCCAATATATATATCTGCAACAAAACAGTACTTATTT... | TACAATAAATGAATACACATTATTTTTTAATATTTAATCTTGAGTACAGATTAGAAATGAAAAATATAAAGTAGTACTAATGAAAAAGTTTTCCCTTCAGATTAAGCTAGATATTTTTAAAGTTTAGATTTGAGGTTTTACCATATAAATAAAAATGTATGTTCAAATGCAAAGGACTTTCACAGTTGTAGGTTTTCAAATGGAGTACTCCAGTGAGCTTAAATAGGCCCTTAGAACTGTTGCCTATGTTACTTTTAATTCTACTATTCTTGCCTTTAGATGTGCCAATATATATATCTGCAACAAAACAGTACTTATTT... |
Task1_train_10586 | A genetic alteration is present in ELOVL4 (ELOVL fatty acid elongase 4) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Spinocerebellar ataxia type 34 | TACAATAAATGAATACACATTATTTTTTAATATTTAATCTTGAGTACAGATTAGAAATGAAAAATATAAAGTAGTACTAATGAAAAAGTTTTCCCTTCAGATTAAGCTAGATATTTTTAAAGTTTAGATTTGAGGTTTTACCATATAAATAAAAATGTATGTTCAAATGCAAAGGACTTTCACAGTTGTAGGTTTTCAAATGGAGTACTCCAGTGAGCTTAAATAGGCCCTTAGAACTGTTGCCTATGTTACTTTTAATTCTACTATTCTTGCCTTTAGATGTGCCAATATATATATCTGCAACAAAACAGTACTTATTT... | TACAATAAATGAATACACATTATTTTTTAATATTTAATCTTGAGTACAGATTAGAAATGAAAAATATAAAGTAGTACTAATGAAAAAGTTTTCCCTTCAGATTAAGCTAGATATTTTTAAAGTTTAGATTTGAGGTTTTACCATATAAATAAAAATGTATGTTCAAATGCAAAGGACTTTCACAGTTGTAGGTTTTCAAATGGAGTACTCCAGTGAGCTTAAATAGGCCCTTAGAACTGTTGCCTATGTTACTTTTAATTCTACTATTCTTGCCTTTAGATGTGCCAATATATATATCTGCAACAAAACAGTACTTATTT... |
Task1_train_10587 | The gene ELOVL4 (ELOVL fatty acid elongase 4) on Chromosome 6 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; ELOVL4-related disorder | TACAATAAATGAATACACATTATTTTTTAATATTTAATCTTGAGTACAGATTAGAAATGAAAAATATAAAGTAGTACTAATGAAAAAGTTTTCCCTTCAGATTAAGCTAGATATTTTTAAAGTTTAGATTTGAGGTTTTACCATATAAATAAAAATGTATGTTCAAATGCAAAGGACTTTCACAGTTGTAGGTTTTCAAATGGAGTACTCCAGTGAGCTTAAATAGGCCCTTAGAACTGTTGCCTATGTTACTTTTAATTCTACTATTCTTGCCTTTAGATGTGCCAATATATATATCTGCAACAAAACAGTACTTATTT... | TACAATAAATGAATACACATTATTTTTTAATATTTAATCTTGAGTACAGATTAGAAATGAAAAATATAAAGTAGTACTAATGAAAAAGTTTTCCCTTCAGATTAAGCTAGATATTTTTAAAGTTTAGATTTGAGGTTTTACCATATAAATAAAAATGTATGTTCAAATGCAAAGGACTTTCACAGTTGTAGGTTTTCAAATGGAGTACTCCAGTGAGCTTAAATAGGCCCTTAGAACTGTTGCCTATGTTACTTTTAATTCTACTATTCTTGCCTTTAGATGTGCCAATATATATATCTGCAACAAAACAGTACTTATTT... |
Task1_train_10588 | A genetic alteration is present in BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Maple syrup urine disease | TTTCATGGTTACCAGGCAAATGGTGTGGTAGAGATGGGGAAAATTTAAAAAATCAGTTTGCAAAACAGGTGAATCTGGCAGGTGCTCTGTTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCC... | TTTCATGGTTACCAGGCAAATGGTGTGGTAGAGATGGGGAAAATTTAAAAAATCAGTTTGCAAAACAGGTGAATCTGGCAGGTGCTCTGTTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCC... |
Task1_train_10589 | This sequence change occurs on Chromosome 6, altering BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Maple syrup urine disease | CCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTATTGCTCTTTTTGTGTTTCACTTTGTTTGCACTATTCTAGGACTCCTATCACATTGGATTGTAGTTGCCTAATCTGTCTCTTTTCTCTACCACCTTGGACATTTTAGAAGTAAAACTAT... | CCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTATTGCTCTTTTTGTGTTTCACTTTGTTTGCACTATTCTAGGACTCCTATCACATTGGATTGTAGTTGCCTAATCTGTCTCTTTTCTCTACCACCTTGGACATTTTAGAAGTAAAACTAT... |
Task1_train_10590 | A genomic change on Chromosome 6 affects BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Maple syrup urine disease | CCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTATTGCTCTTTTTGTGTTTCACTTTGTTTGCACTATTCTAGGACTCCTATCACATTGGATTGTAGTTGCCTAATCTGTCTCTTTTCTCTACCACCTTGGACATTTTAGAAGTAAAACTAT... | CCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTATTGCTCTTTTTGTGTTTCACTTTGTTTGCACTATTCTAGGACTCCTATCACATTGGATTGTAGTTGCCTAATCTGTCTCTTTTCTCTACCACCTTGGACATTTTAGAAGTAAAACTAT... |
Task1_train_10591 | A variant on Chromosome 6 in gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Maple syrup urine disease | CCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTATTGCTCTTTTTGTGTTTCACTTTGTTTGCACTATTCTAGGACTCCTATCACATTGGATTGTAGTTGCCTAATCTGTCTCTTTTCTCTACCACCTTGGACATTTTAGAAGTAAAACTAT... | CCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTATTGCTCTTTTTGTGTTTCACTTTGTTTGCACTATTCTAGGACTCCTATCACATTGGATTGTAGTTGCCTAATCTGTCTCTTTTCTCTACCACCTTGGACATTTTAGAAGTAAAACTAT... |
Task1_train_10592 | This genomic variant is located on Chromosome 6, within the BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Maple syrup urine disease type 1B | GGCATGAGCTGAGAGGTGGTGAAACGTCAAGTGAGAATTGAATTATACGCTAATAAAATTGTACCTAGTGGTTCGAATGGATCGTCTAAAGGGTTTATCAAACTTCTCTAATTTGAAGGGTCTCAAACTCCAAAATCTGCCTCCTTGTTGGTGGGCACAGCTCTTTTAACTGGGAGAGATTATTTGCTGCTGGGCTTTTGGAGTGTCCTGTGGGCACAAGTGTTGGCAAGGATTTGATCAGTTTTTGCACAGATTTTGGGGCTCCTCCATGCTGTGCCCTTCTTTTAGGGATTTAGTCTCTCAATTTTCAACCACTGGTA... | GGCATGAGCTGAGAGGTGGTGAAACGTCAAGTGAGAATTGAATTATACGCTAATAAAATTGTACCTAGTGGTTCGAATGGATCGTCTAAAGGGTTTATCAAACTTCTCTAATTTGAAGGGTCTCAAACTCCAAAATCTGCCTCCTTGTTGGTGGGCACAGCTCTTTTAACTGGGAGAGATTATTTGCTGCTGGGCTTTTGGAGTGTCCTGTGGGCACAAGTGTTGGCAAGGATTTGATCAGTTTTTGCACAGATTTTGGGGCTCCTCCATGCTGTGCCCTTCTTTTAGGGATTTAGTCTCTCAATTTTCAACCACTGGTA... |
Task1_train_10593 | The gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) on Chromosome 6 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Maple syrup urine disease | ATTGAATTATACGCTAATAAAATTGTACCTAGTGGTTCGAATGGATCGTCTAAAGGGTTTATCAAACTTCTCTAATTTGAAGGGTCTCAAACTCCAAAATCTGCCTCCTTGTTGGTGGGCACAGCTCTTTTAACTGGGAGAGATTATTTGCTGCTGGGCTTTTGGAGTGTCCTGTGGGCACAAGTGTTGGCAAGGATTTGATCAGTTTTTGCACAGATTTTGGGGCTCCTCCATGCTGTGCCCTTCTTTTAGGGATTTAGTCTCTCAATTTTCAACCACTGGTAGCCACAGACTATTTTCTGACACCTCAGATCAACCAG... | ATTGAATTATACGCTAATAAAATTGTACCTAGTGGTTCGAATGGATCGTCTAAAGGGTTTATCAAACTTCTCTAATTTGAAGGGTCTCAAACTCCAAAATCTGCCTCCTTGTTGGTGGGCACAGCTCTTTTAACTGGGAGAGATTATTTGCTGCTGGGCTTTTGGAGTGTCCTGTGGGCACAAGTGTTGGCAAGGATTTGATCAGTTTTTGCACAGATTTTGGGGCTCCTCCATGCTGTGCCCTTCTTTTAGGGATTTAGTCTCTCAATTTTCAACCACTGGTAGCCACAGACTATTTTCTGACACCTCAGATCAACCAG... |
Task1_train_10594 | This gene mutation involves BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; Maple syrup urine disease type 1B | ATTGAATTATACGCTAATAAAATTGTACCTAGTGGTTCGAATGGATCGTCTAAAGGGTTTATCAAACTTCTCTAATTTGAAGGGTCTCAAACTCCAAAATCTGCCTCCTTGTTGGTGGGCACAGCTCTTTTAACTGGGAGAGATTATTTGCTGCTGGGCTTTTGGAGTGTCCTGTGGGCACAAGTGTTGGCAAGGATTTGATCAGTTTTTGCACAGATTTTGGGGCTCCTCCATGCTGTGCCCTTCTTTTAGGGATTTAGTCTCTCAATTTTCAACCACTGGTAGCCACAGACTATTTTCTGACACCTCAGATCAACCAG... | ATTGAATTATACGCTAATAAAATTGTACCTAGTGGTTCGAATGGATCGTCTAAAGGGTTTATCAAACTTCTCTAATTTGAAGGGTCTCAAACTCCAAAATCTGCCTCCTTGTTGGTGGGCACAGCTCTTTTAACTGGGAGAGATTATTTGCTGCTGGGCTTTTGGAGTGTCCTGTGGGCACAAGTGTTGGCAAGGATTTGATCAGTTTTTGCACAGATTTTGGGGCTCCTCCATGCTGTGCCCTTCTTTTAGGGATTTAGTCTCTCAATTTTCAACCACTGGTAGCCACAGACTATTTTCTGACACCTCAGATCAACCAG... |
Task1_train_10595 | Gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Maple syrup urine disease type 1A | ATTGAATTATACGCTAATAAAATTGTACCTAGTGGTTCGAATGGATCGTCTAAAGGGTTTATCAAACTTCTCTAATTTGAAGGGTCTCAAACTCCAAAATCTGCCTCCTTGTTGGTGGGCACAGCTCTTTTAACTGGGAGAGATTATTTGCTGCTGGGCTTTTGGAGTGTCCTGTGGGCACAAGTGTTGGCAAGGATTTGATCAGTTTTTGCACAGATTTTGGGGCTCCTCCATGCTGTGCCCTTCTTTTAGGGATTTAGTCTCTCAATTTTCAACCACTGGTAGCCACAGACTATTTTCTGACACCTCAGATCAACCAG... | ATTGAATTATACGCTAATAAAATTGTACCTAGTGGTTCGAATGGATCGTCTAAAGGGTTTATCAAACTTCTCTAATTTGAAGGGTCTCAAACTCCAAAATCTGCCTCCTTGTTGGTGGGCACAGCTCTTTTAACTGGGAGAGATTATTTGCTGCTGGGCTTTTGGAGTGTCCTGTGGGCACAAGTGTTGGCAAGGATTTGATCAGTTTTTGCACAGATTTTGGGGCTCCTCCATGCTGTGCCCTTCTTTTAGGGATTTAGTCTCTCAATTTTCAACCACTGGTAGCCACAGACTATTTTCTGACACCTCAGATCAACCAG... |
Task1_train_10596 | This variant affects gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) located on Chromosome 6. Evaluate its biological effect and specify any disease association. | Pathogenic; Maple syrup urine disease | TACGCTAATAAAATTGTACCTAGTGGTTCGAATGGATCGTCTAAAGGGTTTATCAAACTTCTCTAATTTGAAGGGTCTCAAACTCCAAAATCTGCCTCCTTGTTGGTGGGCACAGCTCTTTTAACTGGGAGAGATTATTTGCTGCTGGGCTTTTGGAGTGTCCTGTGGGCACAAGTGTTGGCAAGGATTTGATCAGTTTTTGCACAGATTTTGGGGCTCCTCCATGCTGTGCCCTTCTTTTAGGGATTTAGTCTCTCAATTTTCAACCACTGGTAGCCACAGACTATTTTCTGACACCTCAGATCAACCAGACTGAGTCT... | TACGCTAATAAAATTGTACCTAGTGGTTCGAATGGATCGTCTAAAGGGTTTATCAAACTTCTCTAATTTGAAGGGTCTCAAACTCCAAAATCTGCCTCCTTGTTGGTGGGCACAGCTCTTTTAACTGGGAGAGATTATTTGCTGCTGGGCTTTTGGAGTGTCCTGTGGGCACAAGTGTTGGCAAGGATTTGATCAGTTTTTGCACAGATTTTGGGGCTCCTCCATGCTGTGCCCTTCTTTTAGGGATTTAGTCTCTCAATTTTCAACCACTGGTAGCCACAGACTATTTTCTGACACCTCAGATCAACCAGACTGAGTCT... |
Task1_train_10597 | Given this context: Chromosome 6, gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | TTTGTATTCTTTGCTTCTGGGTGCAGTGTCCTTTGTATGTCAGTTAGGCCATGTTTGTTGAACATGTTTAAATCATCTCTATTTTTCACACTCCCTCCTTTTTTTTGGTATGCCTTTTTTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTT... | TTTGTATTCTTTGCTTCTGGGTGCAGTGTCCTTTGTATGTCAGTTAGGCCATGTTTGTTGAACATGTTTAAATCATCTCTATTTTTCACACTCCCTCCTTTTTTTTGGTATGCCTTTTTTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTT... |
Task1_train_10598 | With a mutation on Chromosome 6 in gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Maple syrup urine disease | TCTGGGTGCAGTGTCCTTTGTATGTCAGTTAGGCCATGTTTGTTGAACATGTTTAAATCATCTCTATTTTTCACACTCCCTCCTTTTTTTTGGTATGCCTTTTTTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTAC... | TCTGGGTGCAGTGTCCTTTGTATGTCAGTTAGGCCATGTTTGTTGAACATGTTTAAATCATCTCTATTTTTCACACTCCCTCCTTTTTTTTGGTATGCCTTTTTTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTAC... |
Task1_train_10599 | Here is a mutation in BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Maple syrup urine disease type 1B | TCTGGGTGCAGTGTCCTTTGTATGTCAGTTAGGCCATGTTTGTTGAACATGTTTAAATCATCTCTATTTTTCACACTCCCTCCTTTTTTTTGGTATGCCTTTTTTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTAC... | TCTGGGTGCAGTGTCCTTTGTATGTCAGTTAGGCCATGTTTGTTGAACATGTTTAAATCATCTCTATTTTTCACACTCCCTCCTTTTTTTTGGTATGCCTTTTTTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTAC... |
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