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_7200 | This variant affects gene PROS1 (protein S) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Thrombophilia due to protein S deficiency, autosomal dominant | TACAAAATGCATATGGTATCCAGCATTGTGATGGTTTTTCTATCACTCATGTCCTAATGACAGTCTTTTTTTTTTTAATTATACTCTAAGTTCTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGCACGCTGCACCCACTAACTCGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTTCCCCCTCCCCCCACCCTACAACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG... | TACAAAATGCATATGGTATCCAGCATTGTGATGGTTTTTCTATCACTCATGTCCTAATGACAGTCTTTTTTTTTTTAATTATACTCTAAGTTCTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGCACGCTGCACCCACTAACTCGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTTCCCCCTCCCCCCACCCTACAACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG... |
Task1_train_7201 | This variant affects gene PROS1 (protein S) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Thrombophilia due to protein S deficiency, autosomal recessive | TACAAAATGCATATGGTATCCAGCATTGTGATGGTTTTTCTATCACTCATGTCCTAATGACAGTCTTTTTTTTTTTAATTATACTCTAAGTTCTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGCACGCTGCACCCACTAACTCGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTTCCCCCTCCCCCCACCCTACAACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG... | TACAAAATGCATATGGTATCCAGCATTGTGATGGTTTTTCTATCACTCATGTCCTAATGACAGTCTTTTTTTTTTTAATTATACTCTAAGTTCTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGCACGCTGCACCCACTAACTCGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTTCCCCCTCCCCCCACCCTACAACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG... |
Task1_train_7202 | A variant has been detected on Chromosome 3 in PROS1 (protein S). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Thrombophilia due to protein S deficiency, autosomal recessive | GATGGTTTTTCTATCACTCATGTCCTAATGACAGTCTTTTTTTTTTTAATTATACTCTAAGTTCTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGCACGCTGCACCCACTAACTCGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTTCCCCCTCCCCCCACCCTACAACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGA... | GATGGTTTTTCTATCACTCATGTCCTAATGACAGTCTTTTTTTTTTTAATTATACTCTAAGTTCTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGCACGCTGCACCCACTAACTCGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTTCCCCCTCCCCCCACCCTACAACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGA... |
Task1_train_7203 | Given this variant in gene PROS1 (protein S) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Thrombophilia due to protein S deficiency, autosomal dominant | GATGGTTTTTCTATCACTCATGTCCTAATGACAGTCTTTTTTTTTTTAATTATACTCTAAGTTCTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGCACGCTGCACCCACTAACTCGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTTCCCCCTCCCCCCACCCTACAACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGA... | GATGGTTTTTCTATCACTCATGTCCTAATGACAGTCTTTTTTTTTTTAATTATACTCTAAGTTCTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGCACGCTGCACCCACTAACTCGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTTCCCCCTCCCCCCACCCTACAACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGA... |
Task1_train_7204 | This gene mutation involves PROS1 (protein S) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Thrombophilia due to protein S deficiency, autosomal recessive | GATGGTTTTTCTATCACTCATGTCCTAATGACAGTCTTTTTTTTTTTAATTATACTCTAAGTTCTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGCACGCTGCACCCACTAACTCGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTTCCCCCTCCCCCCACCCTACAACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGA... | GATGGTTTTTCTATCACTCATGTCCTAATGACAGTCTTTTTTTTTTTAATTATACTCTAAGTTCTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGCACGCTGCACCCACTAACTCGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTTCCCCCTCCCCCCACCCTACAACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGA... |
Task1_train_7205 | A genomic change on Chromosome 3 affects PROS1 (protein S). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Thrombophilia due to protein S deficiency, autosomal recessive | GGTGCTGATCTGGGAGGATCCCATGAGCTCGGGAGGGGGAGGTTGCCATGAGCTATGATCATGCCACTGCACTCCAGCCTTAGTGACAGAACTAGACCGTCTCAAAAAAGTAAATAAATAAAAATAAAGTAAAATCAAATCATATGGATTAAAAACATCACATCTATATCCAAATTTCCTCATAAGTAAACCACAGATGACTTTTAATCCAATTAAGCAATCAAAAACTTTTAACTGAAAGCATTATGGGGCCAACTATTCTTTATGTGATATACTTGAAGAATTAATTTATCTGCTCTATCAGTGTTATATATAACAAG... | GGTGCTGATCTGGGAGGATCCCATGAGCTCGGGAGGGGGAGGTTGCCATGAGCTATGATCATGCCACTGCACTCCAGCCTTAGTGACAGAACTAGACCGTCTCAAAAAAGTAAATAAATAAAAATAAAGTAAAATCAAATCATATGGATTAAAAACATCACATCTATATCCAAATTTCCTCATAAGTAAACCACAGATGACTTTTAATCCAATTAAGCAATCAAAAACTTTTAACTGAAAGCATTATGGGGCCAACTATTCTTTATGTGATATACTTGAAGAATTAATTTATCTGCTCTATCAGTGTTATATATAACAAG... |
Task1_train_7206 | The gene PROS1 (protein S) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Thrombophilia due to protein S deficiency, autosomal recessive | TGCTGATCTGGGAGGATCCCATGAGCTCGGGAGGGGGAGGTTGCCATGAGCTATGATCATGCCACTGCACTCCAGCCTTAGTGACAGAACTAGACCGTCTCAAAAAAGTAAATAAATAAAAATAAAGTAAAATCAAATCATATGGATTAAAAACATCACATCTATATCCAAATTTCCTCATAAGTAAACCACAGATGACTTTTAATCCAATTAAGCAATCAAAAACTTTTAACTGAAAGCATTATGGGGCCAACTATTCTTTATGTGATATACTTGAAGAATTAATTTATCTGCTCTATCAGTGTTATATATAACAAGTG... | TGCTGATCTGGGAGGATCCCATGAGCTCGGGAGGGGGAGGTTGCCATGAGCTATGATCATGCCACTGCACTCCAGCCTTAGTGACAGAACTAGACCGTCTCAAAAAAGTAAATAAATAAAAATAAAGTAAAATCAAATCATATGGATTAAAAACATCACATCTATATCCAAATTTCCTCATAAGTAAACCACAGATGACTTTTAATCCAATTAAGCAATCAAAAACTTTTAACTGAAAGCATTATGGGGCCAACTATTCTTTATGTGATATACTTGAAGAATTAATTTATCTGCTCTATCAGTGTTATATATAACAAGTG... |
Task1_train_7207 | Given this variant in gene ARL13B (ARF like GTPase 13B) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Joubert syndrome 8 | GAGGTTCCTAGACCTTGCCCACTACCTCTTCTCCATAAATCTATAATCTGCTGTGGGTCTTTGTGGCATTCCCACTGGCTTCGCCACCAGCCAATTGAGAATGGGGCCCTGGAGTGCTGCTTATTGTGATTTACCTTATTCTTGCACTGAGTCAAGTATAGACACAGCTTCTGTTTATTTCCCATGCTAGGTATGGGATGGTTGAAACATCTAGAAAAGATAAAGGCTTCTAGATAACAGAGGAAATTAACATGGAATTCGTTTTACTCATAGTAGAAGTCAGAATCCTCACAATGGCCTATGGTCTAACATGAACTGGT... | GAGGTTCCTAGACCTTGCCCACTACCTCTTCTCCATAAATCTATAATCTGCTGTGGGTCTTTGTGGCATTCCCACTGGCTTCGCCACCAGCCAATTGAGAATGGGGCCCTGGAGTGCTGCTTATTGTGATTTACCTTATTCTTGCACTGAGTCAAGTATAGACACAGCTTCTGTTTATTTCCCATGCTAGGTATGGGATGGTTGAAACATCTAGAAAAGATAAAGGCTTCTAGATAACAGAGGAAATTAACATGGAATTCGTTTTACTCATAGTAGAAGTCAGAATCCTCACAATGGCCTATGGTCTAACATGAACTGGT... |
Task1_train_7208 | The following genetic variant occurs in ARL13B (ARF like GTPase 13B) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Joubert syndrome and related disorders | CTAACAAAGTCCTGGTACCAAGGAGGTGTTTGATACATGTTAGTTCCCTTATTCCTACTTCAGCATAGTTGATTTGTTTTCACTGATGATTGCCTGGGGTTCCTCTCTATTCATACTGAAAGACAGCTGCCTATTTTATCCACACAAACTACTTCTGGTTAAGCTTAGATCACATTTTTAAATGCCTAGTATAATCCTATTTCTGGAAAATCATTCTGCTTATATGTCTAACTTTACCTTTTTCTTTTTCTAGGTAATGAAAGTATTAGCAAAAGTATGACTTGTAGTGGCTCTTAACTTTCTCAGGTGCTGTGTAAACT... | CTAACAAAGTCCTGGTACCAAGGAGGTGTTTGATACATGTTAGTTCCCTTATTCCTACTTCAGCATAGTTGATTTGTTTTCACTGATGATTGCCTGGGGTTCCTCTCTATTCATACTGAAAGACAGCTGCCTATTTTATCCACACAAACTACTTCTGGTTAAGCTTAGATCACATTTTTAAATGCCTAGTATAATCCTATTTCTGGAAAATCATTCTGCTTATATGTCTAACTTTACCTTTTTCTTTTTCTAGGTAATGAAAGTATTAGCAAAAGTATGACTTGTAGTGGCTCTTAACTTTCTCAGGTGCTGTGTAAACT... |
Task1_train_7209 | The gene ARL13B (ARF like GTPase 13B) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Joubert syndrome 8 | CTAACAAAGTCCTGGTACCAAGGAGGTGTTTGATACATGTTAGTTCCCTTATTCCTACTTCAGCATAGTTGATTTGTTTTCACTGATGATTGCCTGGGGTTCCTCTCTATTCATACTGAAAGACAGCTGCCTATTTTATCCACACAAACTACTTCTGGTTAAGCTTAGATCACATTTTTAAATGCCTAGTATAATCCTATTTCTGGAAAATCATTCTGCTTATATGTCTAACTTTACCTTTTTCTTTTTCTAGGTAATGAAAGTATTAGCAAAAGTATGACTTGTAGTGGCTCTTAACTTTCTCAGGTGCTGTGTAAACT... | CTAACAAAGTCCTGGTACCAAGGAGGTGTTTGATACATGTTAGTTCCCTTATTCCTACTTCAGCATAGTTGATTTGTTTTCACTGATGATTGCCTGGGGTTCCTCTCTATTCATACTGAAAGACAGCTGCCTATTTTATCCACACAAACTACTTCTGGTTAAGCTTAGATCACATTTTTAAATGCCTAGTATAATCCTATTTCTGGAAAATCATTCTGCTTATATGTCTAACTTTACCTTTTTCTTTTTCTAGGTAATGAAAGTATTAGCAAAAGTATGACTTGTAGTGGCTCTTAACTTTCTCAGGTGCTGTGTAAACT... |
Task1_train_7210 | A variant was discovered in gene ARL13B (ARF like GTPase 13B), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Joubert syndrome 8 | GGTACCAAGGAGGTGTTTGATACATGTTAGTTCCCTTATTCCTACTTCAGCATAGTTGATTTGTTTTCACTGATGATTGCCTGGGGTTCCTCTCTATTCATACTGAAAGACAGCTGCCTATTTTATCCACACAAACTACTTCTGGTTAAGCTTAGATCACATTTTTAAATGCCTAGTATAATCCTATTTCTGGAAAATCATTCTGCTTATATGTCTAACTTTACCTTTTTCTTTTTCTAGGTAATGAAAGTATTAGCAAAAGTATGACTTGTAGTGGCTCTTAACTTTCTCAGGTGCTGTGTAAACTTCACTAAGGTGCT... | GGTACCAAGGAGGTGTTTGATACATGTTAGTTCCCTTATTCCTACTTCAGCATAGTTGATTTGTTTTCACTGATGATTGCCTGGGGTTCCTCTCTATTCATACTGAAAGACAGCTGCCTATTTTATCCACACAAACTACTTCTGGTTAAGCTTAGATCACATTTTTAAATGCCTAGTATAATCCTATTTCTGGAAAATCATTCTGCTTATATGTCTAACTTTACCTTTTTCTTTTTCTAGGTAATGAAAGTATTAGCAAAAGTATGACTTGTAGTGGCTCTTAACTTTCTCAGGTGCTGTGTAAACTTCACTAAGGTGCT... |
Task1_train_7211 | Given a variant located on Chromosome 3 and affecting ARL13B (ARF like GTPase 13B), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Joubert syndrome 8 | AGATGAGCTCAAATATTAAAAGTTCAGAATGAATATTTGGGCATTTAAAACATTACAGTTTGTATTTTAAGAAGATAAGAATATAATTTATGGATGTGACCTGTGGAAATTAGTCCTCTTATTTTTCTGTTTTGTAGCTTTTTCTGTTTTGTTGGCATATTGATCTCTTGTTTATGTTTTCTTGACACTTTATTTGATTTTCCTTTTATAGGCCAGTACTTAAAAACTATTTTAGCAATAATAAGGGAAAAATGACAAAATTGATGCTACAACATTTTAAGATACTAGTGTGTTCTGTAATCAGTACATTTAAAACTTGG... | AGATGAGCTCAAATATTAAAAGTTCAGAATGAATATTTGGGCATTTAAAACATTACAGTTTGTATTTTAAGAAGATAAGAATATAATTTATGGATGTGACCTGTGGAAATTAGTCCTCTTATTTTTCTGTTTTGTAGCTTTTTCTGTTTTGTTGGCATATTGATCTCTTGTTTATGTTTTCTTGACACTTTATTTGATTTTCCTTTTATAGGCCAGTACTTAAAAACTATTTTAGCAATAATAAGGGAAAAATGACAAAATTGATGCTACAACATTTTAAGATACTAGTGTGTTCTGTAATCAGTACATTTAAAACTTGG... |
Task1_train_7212 | This variant impacts the gene ARL13B (ARF like GTPase 13B) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Joubert syndrome and related disorders | AGATGAGCTCAAATATTAAAAGTTCAGAATGAATATTTGGGCATTTAAAACATTACAGTTTGTATTTTAAGAAGATAAGAATATAATTTATGGATGTGACCTGTGGAAATTAGTCCTCTTATTTTTCTGTTTTGTAGCTTTTTCTGTTTTGTTGGCATATTGATCTCTTGTTTATGTTTTCTTGACACTTTATTTGATTTTCCTTTTATAGGCCAGTACTTAAAAACTATTTTAGCAATAATAAGGGAAAAATGACAAAATTGATGCTACAACATTTTAAGATACTAGTGTGTTCTGTAATCAGTACATTTAAAACTTGG... | AGATGAGCTCAAATATTAAAAGTTCAGAATGAATATTTGGGCATTTAAAACATTACAGTTTGTATTTTAAGAAGATAAGAATATAATTTATGGATGTGACCTGTGGAAATTAGTCCTCTTATTTTTCTGTTTTGTAGCTTTTTCTGTTTTGTTGGCATATTGATCTCTTGTTTATGTTTTCTTGACACTTTATTTGATTTTCCTTTTATAGGCCAGTACTTAAAAACTATTTTAGCAATAATAAGGGAAAAATGACAAAATTGATGCTACAACATTTTAAGATACTAGTGTGTTCTGTAATCAGTACATTTAAAACTTGG... |
Task1_train_7213 | Given a variant located on Chromosome 3 and affecting NSUN3 (NOP2/Sun RNA methyltransferase 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Combined oxidative phosphorylation deficiency 48 | GTCCCTGCAGTCTGTTTTACAGACCCTTGATGCACACTTAAGTTTGCGAACCTCTTTCTTAAGGAAAGAGGTTGTCATCCTCCAAAATAGCTGAAACAGATACGCCAGGCTCCTGTGACTCACCATCCATAGTAAGAGGCAGTGAAAGGAGAAAGCAGTTTCACGTATTAGCCCTAAATTGAAATTCACATGGCACGCTTCCAGTCGCAGGTGTTACATTTCAATCCACCCATTCCTCACATAGGCAACTCCAGGGTGTGTAGCAGCTGGAATTTATTTAATTGACCATAGTTAATGAGGCTCCCAAATAACTCAGCTAG... | GTCCCTGCAGTCTGTTTTACAGACCCTTGATGCACACTTAAGTTTGCGAACCTCTTTCTTAAGGAAAGAGGTTGTCATCCTCCAAAATAGCTGAAACAGATACGCCAGGCTCCTGTGACTCACCATCCATAGTAAGAGGCAGTGAAAGGAGAAAGCAGTTTCACGTATTAGCCCTAAATTGAAATTCACATGGCACGCTTCCAGTCGCAGGTGTTACATTTCAATCCACCCATTCCTCACATAGGCAACTCCAGGGTGTGTAGCAGCTGGAATTTATTTAATTGACCATAGTTAATGAGGCTCCCAAATAACTCAGCTAG... |
Task1_train_7214 | This variant affects the gene NSUN3 (NOP2/Sun RNA methyltransferase 3) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Combined oxidative phosphorylation deficiency 48 | ACACTTAAGTTTGCGAACCTCTTTCTTAAGGAAAGAGGTTGTCATCCTCCAAAATAGCTGAAACAGATACGCCAGGCTCCTGTGACTCACCATCCATAGTAAGAGGCAGTGAAAGGAGAAAGCAGTTTCACGTATTAGCCCTAAATTGAAATTCACATGGCACGCTTCCAGTCGCAGGTGTTACATTTCAATCCACCCATTCCTCACATAGGCAACTCCAGGGTGTGTAGCAGCTGGAATTTATTTAATTGACCATAGTTAATGAGGCTCCCAAATAACTCAGCTAGAAAGGTCGGCTAGTAAATAAATTAAATATTTCC... | ACACTTAAGTTTGCGAACCTCTTTCTTAAGGAAAGAGGTTGTCATCCTCCAAAATAGCTGAAACAGATACGCCAGGCTCCTGTGACTCACCATCCATAGTAAGAGGCAGTGAAAGGAGAAAGCAGTTTCACGTATTAGCCCTAAATTGAAATTCACATGGCACGCTTCCAGTCGCAGGTGTTACATTTCAATCCACCCATTCCTCACATAGGCAACTCCAGGGTGTGTAGCAGCTGGAATTTATTTAATTGACCATAGTTAATGAGGCTCCCAAATAACTCAGCTAGAAAGGTCGGCTAGTAAATAAATTAAATATTTCC... |
Task1_train_7215 | A mutation in ARL6 (ARF like GTPase 6), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Bardet-Biedl syndrome 3 | TGGAAAAGTGATGGAAAGTCACAATACAAGGTACTGTGAAAAACGAATATTCAAGCATCAGGCTTTAAACACTCAGTGCTTTATAGTAGATGCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAA... | TGGAAAAGTGATGGAAAGTCACAATACAAGGTACTGTGAAAAACGAATATTCAAGCATCAGGCTTTAAACACTCAGTGCTTTATAGTAGATGCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAA... |
Task1_train_7216 | Located on Chromosome 3, this mutation impacts ARL6 (ARF like GTPase 6). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinitis pigmentosa 55 | TGGAAAAGTGATGGAAAGTCACAATACAAGGTACTGTGAAAAACGAATATTCAAGCATCAGGCTTTAAACACTCAGTGCTTTATAGTAGATGCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAA... | TGGAAAAGTGATGGAAAGTCACAATACAAGGTACTGTGAAAAACGAATATTCAAGCATCAGGCTTTAAACACTCAGTGCTTTATAGTAGATGCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAA... |
Task1_train_7217 | A mutation found in ARL6 (ARF like GTPase 6) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Bardet-Biedl syndrome 3 | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... |
Task1_train_7218 | The gene ARL6 (ARF like GTPase 6) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Retinitis pigmentosa 55 | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... |
Task1_train_7219 | This variant affects the gene ARL6 (ARF like GTPase 6) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Bardet-Biedl syndrome 3 | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... |
Task1_train_7220 | A genomic change on Chromosome 3 affects ARL6 (ARF like GTPase 6). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Retinitis pigmentosa 55 | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... |
Task1_train_7221 | The gene ARL6 (ARF like GTPase 6) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Bardet-Biedl syndrome 1 | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... |
Task1_train_7222 | This sequence change occurs on Chromosome 3, altering ARL6 (ARF like GTPase 6). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Retinal dystrophy | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... |
Task1_train_7223 | The following genetic variant occurs in ARL6 (ARF like GTPase 6) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Retinitis pigmentosa | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... |
Task1_train_7224 | Gene ARL6 (ARF like GTPase 6), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Bardet-Biedl syndrome 1 | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... |
Task1_train_7225 | The gene ARL6 (ARF like GTPase 6) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Retinitis pigmentosa 55 | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... |
Task1_train_7226 | Here is a mutation in ARL6 (ARF like GTPase 6) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Bardet-Biedl syndrome 3 | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... |
Task1_train_7227 | An alteration has been detected in ARL6 (ARF like GTPase 6) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Retinitis pigmentosa 55 | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... |
Task1_train_7228 | A genetic alteration is present in ARL6 (ARF like GTPase 6) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Bardet-Biedl syndrome 3 | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... | GCTTAAAGGGGGGAAAATGTGAGAAGTTGTCGTTTTTAAAACATAAGTTCTAAATTATGAAATGGAGAACAAGATATAAGCATTTATATCAATATGTTTATGCAGTAAATAAAGTGAGTAATAGCAAATTTACTTTGAAATCAAATGGTATGTGTGAATTGCTTCATGACATCAGAAGGTTAATTTAAAATAGATTTTACAAATGCTGGTCCTTAAGCTGTAATTTAAAGAAATGGACTGAATAAGATTTGAATCTCTGATACAAGGAGAAAAGCAGATTGAAGTGGCACAAATGGAAGTACCTGAGGTCAAACTCATCC... |
Task1_train_7229 | Located on Chromosome 3, this mutation impacts ARL6 (ARF like GTPase 6). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinitis pigmentosa 55 | CCATTAGTAGCATTTATTTTTGGAATAGTAGGATTATAAGGGAAGTTTACTTTCTTTTATTTTTCTTTTCTTTTTTTTTTCACATCCTGTTTGGTGAAGAGAGACATTTACTTTCTCATCTATATGATGCCATAATGTTAAATATTATATAATTTTTACATACTATTTTTACAATATAAAAAGGTAATAGCATGCAAAAATATAAGGAGTACACATTTTTTAAATTTGGAAAATATAGAAGAGAATATTGAAAACATGTTTCCCATAAATCTCACTATTCATAAATTCACCATTGTCAATCTTTTTGGTATCTTTCTCCT... | CCATTAGTAGCATTTATTTTTGGAATAGTAGGATTATAAGGGAAGTTTACTTTCTTTTATTTTTCTTTTCTTTTTTTTTTCACATCCTGTTTGGTGAAGAGAGACATTTACTTTCTCATCTATATGATGCCATAATGTTAAATATTATATAATTTTTACATACTATTTTTACAATATAAAAAGGTAATAGCATGCAAAAATATAAGGAGTACACATTTTTTAAATTTGGAAAATATAGAAGAGAATATTGAAAACATGTTTCCCATAAATCTCACTATTCATAAATTCACCATTGTCAATCTTTTTGGTATCTTTCTCCT... |
Task1_train_7230 | A mutation found in ARL6 (ARF like GTPase 6) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Bardet-Biedl syndrome 3 | ATTTTTGGAATAGTAGGATTATAAGGGAAGTTTACTTTCTTTTATTTTTCTTTTCTTTTTTTTTTCACATCCTGTTTGGTGAAGAGAGACATTTACTTTCTCATCTATATGATGCCATAATGTTAAATATTATATAATTTTTACATACTATTTTTACAATATAAAAAGGTAATAGCATGCAAAAATATAAGGAGTACACATTTTTTAAATTTGGAAAATATAGAAGAGAATATTGAAAACATGTTTCCCATAAATCTCACTATTCATAAATTCACCATTGTCAATCTTTTTGGTATCTTTCTCCTCCTTTTGAAATATAT... | ATTTTTGGAATAGTAGGATTATAAGGGAAGTTTACTTTCTTTTATTTTTCTTTTCTTTTTTTTTTCACATCCTGTTTGGTGAAGAGAGACATTTACTTTCTCATCTATATGATGCCATAATGTTAAATATTATATAATTTTTACATACTATTTTTACAATATAAAAAGGTAATAGCATGCAAAAATATAAGGAGTACACATTTTTTAAATTTGGAAAATATAGAAGAGAATATTGAAAACATGTTTCCCATAAATCTCACTATTCATAAATTCACCATTGTCAATCTTTTTGGTATCTTTCTCCTCCTTTTGAAATATAT... |
Task1_train_7231 | The gene ARL6 (ARF like GTPase 6) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Retinitis pigmentosa 55 | ATTTTTGGAATAGTAGGATTATAAGGGAAGTTTACTTTCTTTTATTTTTCTTTTCTTTTTTTTTTCACATCCTGTTTGGTGAAGAGAGACATTTACTTTCTCATCTATATGATGCCATAATGTTAAATATTATATAATTTTTACATACTATTTTTACAATATAAAAAGGTAATAGCATGCAAAAATATAAGGAGTACACATTTTTTAAATTTGGAAAATATAGAAGAGAATATTGAAAACATGTTTCCCATAAATCTCACTATTCATAAATTCACCATTGTCAATCTTTTTGGTATCTTTCTCCTCCTTTTGAAATATAT... | ATTTTTGGAATAGTAGGATTATAAGGGAAGTTTACTTTCTTTTATTTTTCTTTTCTTTTTTTTTTCACATCCTGTTTGGTGAAGAGAGACATTTACTTTCTCATCTATATGATGCCATAATGTTAAATATTATATAATTTTTACATACTATTTTTACAATATAAAAAGGTAATAGCATGCAAAAATATAAGGAGTACACATTTTTTAAATTTGGAAAATATAGAAGAGAATATTGAAAACATGTTTCCCATAAATCTCACTATTCATAAATTCACCATTGTCAATCTTTTTGGTATCTTTCTCCTCCTTTTGAAATATAT... |
Task1_train_7232 | Here is a genetic alteration in ARL6 (ARF like GTPase 6) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Bardet-Biedl syndrome 1 | ATTTTTGGAATAGTAGGATTATAAGGGAAGTTTACTTTCTTTTATTTTTCTTTTCTTTTTTTTTTCACATCCTGTTTGGTGAAGAGAGACATTTACTTTCTCATCTATATGATGCCATAATGTTAAATATTATATAATTTTTACATACTATTTTTACAATATAAAAAGGTAATAGCATGCAAAAATATAAGGAGTACACATTTTTTAAATTTGGAAAATATAGAAGAGAATATTGAAAACATGTTTCCCATAAATCTCACTATTCATAAATTCACCATTGTCAATCTTTTTGGTATCTTTCTCCTCCTTTTGAAATATAT... | ATTTTTGGAATAGTAGGATTATAAGGGAAGTTTACTTTCTTTTATTTTTCTTTTCTTTTTTTTTTCACATCCTGTTTGGTGAAGAGAGACATTTACTTTCTCATCTATATGATGCCATAATGTTAAATATTATATAATTTTTACATACTATTTTTACAATATAAAAAGGTAATAGCATGCAAAAATATAAGGAGTACACATTTTTTAAATTTGGAAAATATAGAAGAGAATATTGAAAACATGTTTCCCATAAATCTCACTATTCATAAATTCACCATTGTCAATCTTTTTGGTATCTTTCTCCTCCTTTTGAAATATAT... |
Task1_train_7233 | The gene ARL6 (ARF like GTPase 6), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Bardet-Biedl syndrome 3 | ATTTTTGGAATAGTAGGATTATAAGGGAAGTTTACTTTCTTTTATTTTTCTTTTCTTTTTTTTTTCACATCCTGTTTGGTGAAGAGAGACATTTACTTTCTCATCTATATGATGCCATAATGTTAAATATTATATAATTTTTACATACTATTTTTACAATATAAAAAGGTAATAGCATGCAAAAATATAAGGAGTACACATTTTTTAAATTTGGAAAATATAGAAGAGAATATTGAAAACATGTTTCCCATAAATCTCACTATTCATAAATTCACCATTGTCAATCTTTTTGGTATCTTTCTCCTCCTTTTGAAATATAT... | ATTTTTGGAATAGTAGGATTATAAGGGAAGTTTACTTTCTTTTATTTTTCTTTTCTTTTTTTTTTCACATCCTGTTTGGTGAAGAGAGACATTTACTTTCTCATCTATATGATGCCATAATGTTAAATATTATATAATTTTTACATACTATTTTTACAATATAAAAAGGTAATAGCATGCAAAAATATAAGGAGTACACATTTTTTAAATTTGGAAAATATAGAAGAGAATATTGAAAACATGTTTCCCATAAATCTCACTATTCATAAATTCACCATTGTCAATCTTTTTGGTATCTTTCTCCTCCTTTTGAAATATAT... |
Task1_train_7234 | A variant on Chromosome 3 in gene ARL6 (ARF like GTPase 6) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Retinitis pigmentosa 55 | ATTTTTGGAATAGTAGGATTATAAGGGAAGTTTACTTTCTTTTATTTTTCTTTTCTTTTTTTTTTCACATCCTGTTTGGTGAAGAGAGACATTTACTTTCTCATCTATATGATGCCATAATGTTAAATATTATATAATTTTTACATACTATTTTTACAATATAAAAAGGTAATAGCATGCAAAAATATAAGGAGTACACATTTTTTAAATTTGGAAAATATAGAAGAGAATATTGAAAACATGTTTCCCATAAATCTCACTATTCATAAATTCACCATTGTCAATCTTTTTGGTATCTTTCTCCTCCTTTTGAAATATAT... | ATTTTTGGAATAGTAGGATTATAAGGGAAGTTTACTTTCTTTTATTTTTCTTTTCTTTTTTTTTTCACATCCTGTTTGGTGAAGAGAGACATTTACTTTCTCATCTATATGATGCCATAATGTTAAATATTATATAATTTTTACATACTATTTTTACAATATAAAAAGGTAATAGCATGCAAAAATATAAGGAGTACACATTTTTTAAATTTGGAAAATATAGAAGAGAATATTGAAAACATGTTTCCCATAAATCTCACTATTCATAAATTCACCATTGTCAATCTTTTTGGTATCTTTCTCCTCCTTTTGAAATATAT... |
Task1_train_7235 | Given this context: Chromosome 3, gene ARL6 (ARF like GTPase 6) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Bardet-Biedl syndrome | TAAGGGAAGTTTACTTTCTTTTATTTTTCTTTTCTTTTTTTTTTCACATCCTGTTTGGTGAAGAGAGACATTTACTTTCTCATCTATATGATGCCATAATGTTAAATATTATATAATTTTTACATACTATTTTTACAATATAAAAAGGTAATAGCATGCAAAAATATAAGGAGTACACATTTTTTAAATTTGGAAAATATAGAAGAGAATATTGAAAACATGTTTCCCATAAATCTCACTATTCATAAATTCACCATTGTCAATCTTTTTGGTATCTTTCTCCTCCTTTTGAAATATATAACATATACTTTATATAACTA... | TAAGGGAAGTTTACTTTCTTTTATTTTTCTTTTCTTTTTTTTTTCACATCCTGTTTGGTGAAGAGAGACATTTACTTTCTCATCTATATGATGCCATAATGTTAAATATTATATAATTTTTACATACTATTTTTACAATATAAAAAGGTAATAGCATGCAAAAATATAAGGAGTACACATTTTTTAAATTTGGAAAATATAGAAGAGAATATTGAAAACATGTTTCCCATAAATCTCACTATTCATAAATTCACCATTGTCAATCTTTTTGGTATCTTTCTCCTCCTTTTGAAATATATAACATATACTTTATATAACTA... |
Task1_train_7236 | Given this context: Chromosome 3, gene ARL6 (ARF like GTPase 6) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Bardet-Biedl syndrome 1 | CAATATTTTTAAAAGCATGTATAAAATTGAAAATGTATTTATCCTTTTTCTATTTTAAATATAAAGGTAATGCTCTCAGTGATACAGAGATAAAATATTATCTGTCTCCTGCCTTGGGTACAAGTAAATTTACTGAGCAATGAAGAGAAGATCCTAGAGAAGTATAGTCTGATAAATTAAAGAAAAATTTTATGTTTTATGTTTGACCATTGTACTAAACATATAGTCAGCTCTGATTTTCAGGGTCTGATTGTATTATTCTCCTTCAGATGCGTTCTTTGACTCAATCCCTGGCATCATGATTGTGTGTGTGTGTGTGT... | CAATATTTTTAAAAGCATGTATAAAATTGAAAATGTATTTATCCTTTTTCTATTTTAAATATAAAGGTAATGCTCTCAGTGATACAGAGATAAAATATTATCTGTCTCCTGCCTTGGGTACAAGTAAATTTACTGAGCAATGAAGAGAAGATCCTAGAGAAGTATAGTCTGATAAATTAAAGAAAAATTTTATGTTTTATGTTTGACCATTGTACTAAACATATAGTCAGCTCTGATTTTCAGGGTCTGATTGTATTATTCTCCTTCAGATGCGTTCTTTGACTCAATCCCTGGCATCATGATTGTGTGTGTGTGTGTGT... |
Task1_train_7237 | This variant impacts the gene ARL6 (ARF like GTPase 6) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Retinitis pigmentosa 55 | CAATATTTTTAAAAGCATGTATAAAATTGAAAATGTATTTATCCTTTTTCTATTTTAAATATAAAGGTAATGCTCTCAGTGATACAGAGATAAAATATTATCTGTCTCCTGCCTTGGGTACAAGTAAATTTACTGAGCAATGAAGAGAAGATCCTAGAGAAGTATAGTCTGATAAATTAAAGAAAAATTTTATGTTTTATGTTTGACCATTGTACTAAACATATAGTCAGCTCTGATTTTCAGGGTCTGATTGTATTATTCTCCTTCAGATGCGTTCTTTGACTCAATCCCTGGCATCATGATTGTGTGTGTGTGTGTGT... | CAATATTTTTAAAAGCATGTATAAAATTGAAAATGTATTTATCCTTTTTCTATTTTAAATATAAAGGTAATGCTCTCAGTGATACAGAGATAAAATATTATCTGTCTCCTGCCTTGGGTACAAGTAAATTTACTGAGCAATGAAGAGAAGATCCTAGAGAAGTATAGTCTGATAAATTAAAGAAAAATTTTATGTTTTATGTTTGACCATTGTACTAAACATATAGTCAGCTCTGATTTTCAGGGTCTGATTGTATTATTCTCCTTCAGATGCGTTCTTTGACTCAATCCCTGGCATCATGATTGTGTGTGTGTGTGTGT... |
Task1_train_7238 | Consider this mutation in ARL6 (ARF like GTPase 6) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Bardet-Biedl syndrome 3 | CAATATTTTTAAAAGCATGTATAAAATTGAAAATGTATTTATCCTTTTTCTATTTTAAATATAAAGGTAATGCTCTCAGTGATACAGAGATAAAATATTATCTGTCTCCTGCCTTGGGTACAAGTAAATTTACTGAGCAATGAAGAGAAGATCCTAGAGAAGTATAGTCTGATAAATTAAAGAAAAATTTTATGTTTTATGTTTGACCATTGTACTAAACATATAGTCAGCTCTGATTTTCAGGGTCTGATTGTATTATTCTCCTTCAGATGCGTTCTTTGACTCAATCCCTGGCATCATGATTGTGTGTGTGTGTGTGT... | CAATATTTTTAAAAGCATGTATAAAATTGAAAATGTATTTATCCTTTTTCTATTTTAAATATAAAGGTAATGCTCTCAGTGATACAGAGATAAAATATTATCTGTCTCCTGCCTTGGGTACAAGTAAATTTACTGAGCAATGAAGAGAAGATCCTAGAGAAGTATAGTCTGATAAATTAAAGAAAAATTTTATGTTTTATGTTTGACCATTGTACTAAACATATAGTCAGCTCTGATTTTCAGGGTCTGATTGTATTATTCTCCTTCAGATGCGTTCTTTGACTCAATCCCTGGCATCATGATTGTGTGTGTGTGTGTGT... |
Task1_train_7239 | This mutation occurs in ARL6 (ARF like GTPase 6) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Retinitis pigmentosa 55 | CAATATTTTTAAAAGCATGTATAAAATTGAAAATGTATTTATCCTTTTTCTATTTTAAATATAAAGGTAATGCTCTCAGTGATACAGAGATAAAATATTATCTGTCTCCTGCCTTGGGTACAAGTAAATTTACTGAGCAATGAAGAGAAGATCCTAGAGAAGTATAGTCTGATAAATTAAAGAAAAATTTTATGTTTTATGTTTGACCATTGTACTAAACATATAGTCAGCTCTGATTTTCAGGGTCTGATTGTATTATTCTCCTTCAGATGCGTTCTTTGACTCAATCCCTGGCATCATGATTGTGTGTGTGTGTGTGT... | CAATATTTTTAAAAGCATGTATAAAATTGAAAATGTATTTATCCTTTTTCTATTTTAAATATAAAGGTAATGCTCTCAGTGATACAGAGATAAAATATTATCTGTCTCCTGCCTTGGGTACAAGTAAATTTACTGAGCAATGAAGAGAAGATCCTAGAGAAGTATAGTCTGATAAATTAAAGAAAAATTTTATGTTTTATGTTTGACCATTGTACTAAACATATAGTCAGCTCTGATTTTCAGGGTCTGATTGTATTATTCTCCTTCAGATGCGTTCTTTGACTCAATCCCTGGCATCATGATTGTGTGTGTGTGTGTGT... |
Task1_train_7240 | A variant has been detected on Chromosome 3 in ARL6 (ARF like GTPase 6). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Bardet-Biedl syndrome 3 | CAATATTTTTAAAAGCATGTATAAAATTGAAAATGTATTTATCCTTTTTCTATTTTAAATATAAAGGTAATGCTCTCAGTGATACAGAGATAAAATATTATCTGTCTCCTGCCTTGGGTACAAGTAAATTTACTGAGCAATGAAGAGAAGATCCTAGAGAAGTATAGTCTGATAAATTAAAGAAAAATTTTATGTTTTATGTTTGACCATTGTACTAAACATATAGTCAGCTCTGATTTTCAGGGTCTGATTGTATTATTCTCCTTCAGATGCGTTCTTTGACTCAATCCCTGGCATCATGATTGTGTGTGTGTGTGTGT... | CAATATTTTTAAAAGCATGTATAAAATTGAAAATGTATTTATCCTTTTTCTATTTTAAATATAAAGGTAATGCTCTCAGTGATACAGAGATAAAATATTATCTGTCTCCTGCCTTGGGTACAAGTAAATTTACTGAGCAATGAAGAGAAGATCCTAGAGAAGTATAGTCTGATAAATTAAAGAAAAATTTTATGTTTTATGTTTGACCATTGTACTAAACATATAGTCAGCTCTGATTTTCAGGGTCTGATTGTATTATTCTCCTTCAGATGCGTTCTTTGACTCAATCCCTGGCATCATGATTGTGTGTGTGTGTGTGT... |
Task1_train_7241 | A variant has been detected on Chromosome 3 in ARL6 (ARF like GTPase 6). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Bardet-Biedl syndrome 3 | TATTTTTAAAAGCATGTATAAAATTGAAAATGTATTTATCCTTTTTCTATTTTAAATATAAAGGTAATGCTCTCAGTGATACAGAGATAAAATATTATCTGTCTCCTGCCTTGGGTACAAGTAAATTTACTGAGCAATGAAGAGAAGATCCTAGAGAAGTATAGTCTGATAAATTAAAGAAAAATTTTATGTTTTATGTTTGACCATTGTACTAAACATATAGTCAGCTCTGATTTTCAGGGTCTGATTGTATTATTCTCCTTCAGATGCGTTCTTTGACTCAATCCCTGGCATCATGATTGTGTGTGTGTGTGTGTGTG... | TATTTTTAAAAGCATGTATAAAATTGAAAATGTATTTATCCTTTTTCTATTTTAAATATAAAGGTAATGCTCTCAGTGATACAGAGATAAAATATTATCTGTCTCCTGCCTTGGGTACAAGTAAATTTACTGAGCAATGAAGAGAAGATCCTAGAGAAGTATAGTCTGATAAATTAAAGAAAAATTTTATGTTTTATGTTTGACCATTGTACTAAACATATAGTCAGCTCTGATTTTCAGGGTCTGATTGTATTATTCTCCTTCAGATGCGTTCTTTGACTCAATCCCTGGCATCATGATTGTGTGTGTGTGTGTGTGTG... |
Task1_train_7242 | This genomic variant is located on Chromosome 3, within the ARL6 (ARF like GTPase 6) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Bardet-Biedl syndrome | AAAATTGAAAATGTATTTATCCTTTTTCTATTTTAAATATAAAGGTAATGCTCTCAGTGATACAGAGATAAAATATTATCTGTCTCCTGCCTTGGGTACAAGTAAATTTACTGAGCAATGAAGAGAAGATCCTAGAGAAGTATAGTCTGATAAATTAAAGAAAAATTTTATGTTTTATGTTTGACCATTGTACTAAACATATAGTCAGCTCTGATTTTCAGGGTCTGATTGTATTATTCTCCTTCAGATGCGTTCTTTGACTCAATCCCTGGCATCATGATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT... | AAAATTGAAAATGTATTTATCCTTTTTCTATTTTAAATATAAAGGTAATGCTCTCAGTGATACAGAGATAAAATATTATCTGTCTCCTGCCTTGGGTACAAGTAAATTTACTGAGCAATGAAGAGAAGATCCTAGAGAAGTATAGTCTGATAAATTAAAGAAAAATTTTATGTTTTATGTTTGACCATTGTACTAAACATATAGTCAGCTCTGATTTTCAGGGTCTGATTGTATTATTCTCCTTCAGATGCGTTCTTTGACTCAATCCCTGGCATCATGATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT... |
Task1_train_7243 | Consider a variant on Chromosome 3 in gene ARL6 (ARF like GTPase 6). Determine its clinical classification and disease relevance. | Pathogenic; Bardet-Biedl syndrome | AAAATGTATTTATCCTTTTTCTATTTTAAATATAAAGGTAATGCTCTCAGTGATACAGAGATAAAATATTATCTGTCTCCTGCCTTGGGTACAAGTAAATTTACTGAGCAATGAAGAGAAGATCCTAGAGAAGTATAGTCTGATAAATTAAAGAAAAATTTTATGTTTTATGTTTGACCATTGTACTAAACATATAGTCAGCTCTGATTTTCAGGGTCTGATTGTATTATTCTCCTTCAGATGCGTTCTTTGACTCAATCCCTGGCATCATGATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGTT... | AAAATGTATTTATCCTTTTTCTATTTTAAATATAAAGGTAATGCTCTCAGTGATACAGAGATAAAATATTATCTGTCTCCTGCCTTGGGTACAAGTAAATTTACTGAGCAATGAAGAGAAGATCCTAGAGAAGTATAGTCTGATAAATTAAAGAAAAATTTTATGTTTTATGTTTGACCATTGTACTAAACATATAGTCAGCTCTGATTTTCAGGGTCTGATTGTATTATTCTCCTTCAGATGCGTTCTTTGACTCAATCCCTGGCATCATGATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGTT... |
Task1_train_7244 | Consider this mutation in CPOX (coproporphyrinogen oxidase) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Coproporphyria | AGCCCTAATGTTGTTCAAGGATCAACTGTACTAAGAAATATATGCGTTTTCCTATATTATCCTGGCAACAAAAAATATAAATATTTCTTAGTCTTATTTAATAATAAAATTTATTAGCAGATCTCTTGTAAGACAGTTGAAGAATTCATACATTTTCCAGCCCCAAAAAGGCCACACAGAATCACAAACATTCAACGTGTTCCACGATAATGATATGTATGAGATGCTCTTCCTTATAAACTTTATTACGAAGCAAATAAAATAATACATTCATAATATATGAACAAAGAAATCATACATTAAGAATCCTGTTGTGATTT... | AGCCCTAATGTTGTTCAAGGATCAACTGTACTAAGAAATATATGCGTTTTCCTATATTATCCTGGCAACAAAAAATATAAATATTTCTTAGTCTTATTTAATAATAAAATTTATTAGCAGATCTCTTGTAAGACAGTTGAAGAATTCATACATTTTCCAGCCCCAAAAAGGCCACACAGAATCACAAACATTCAACGTGTTCCACGATAATGATATGTATGAGATGCTCTTCCTTATAAACTTTATTACGAAGCAAATAAAATAATACATTCATAATATATGAACAAAGAAATCATACATTAAGAATCCTGTTGTGATTT... |
Task1_train_7245 | A variant affecting Chromosome 3, within the gene CPOX (coproporphyrinogen oxidase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hereditary coproporphyria | AAGTCTTTAATTTCTGTTTTCCTATGAAAAGGATAACTGTAAGACTGATGTTCAAGGTCTGGGGGAGGATAGCAGTAACTGTGGGCAAGAAACTGGATGAGATTGCCAAATAAGAGACTGTAAAGTCAAAAGGGAATGAGACTGACTGCTGAAAGGGAGACCGGTGTTTGGACAGGGTGAAGACGAGGCAAAGTGGGTAACAGTAAGTGAAAAGGATACAGAAAACTGGTCATGACTGCAGTATTAGAAACCAAAGACAGTGTTGATAGCCCCAGAGAAGAACTGGAGTTATCTTAGGCCCCAGAGTTTATTGCCATCTT... | AAGTCTTTAATTTCTGTTTTCCTATGAAAAGGATAACTGTAAGACTGATGTTCAAGGTCTGGGGGAGGATAGCAGTAACTGTGGGCAAGAAACTGGATGAGATTGCCAAATAAGAGACTGTAAAGTCAAAAGGGAATGAGACTGACTGCTGAAAGGGAGACCGGTGTTTGGACAGGGTGAAGACGAGGCAAAGTGGGTAACAGTAAGTGAAAAGGATACAGAAAACTGGTCATGACTGCAGTATTAGAAACCAAAGACAGTGTTGATAGCCCCAGAGAAGAACTGGAGTTATCTTAGGCCCCAGAGTTTATTGCCATCTT... |
Task1_train_7246 | This variant affects the gene CPOX (coproporphyrinogen oxidase) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Coproporphyria | ATTTCTGTTTTCCTATGAAAAGGATAACTGTAAGACTGATGTTCAAGGTCTGGGGGAGGATAGCAGTAACTGTGGGCAAGAAACTGGATGAGATTGCCAAATAAGAGACTGTAAAGTCAAAAGGGAATGAGACTGACTGCTGAAAGGGAGACCGGTGTTTGGACAGGGTGAAGACGAGGCAAAGTGGGTAACAGTAAGTGAAAAGGATACAGAAAACTGGTCATGACTGCAGTATTAGAAACCAAAGACAGTGTTGATAGCCCCAGAGAAGAACTGGAGTTATCTTAGGCCCCAGAGTTTATTGCCATCTTAAGGACCAG... | ATTTCTGTTTTCCTATGAAAAGGATAACTGTAAGACTGATGTTCAAGGTCTGGGGGAGGATAGCAGTAACTGTGGGCAAGAAACTGGATGAGATTGCCAAATAAGAGACTGTAAAGTCAAAAGGGAATGAGACTGACTGCTGAAAGGGAGACCGGTGTTTGGACAGGGTGAAGACGAGGCAAAGTGGGTAACAGTAAGTGAAAAGGATACAGAAAACTGGTCATGACTGCAGTATTAGAAACCAAAGACAGTGTTGATAGCCCCAGAGAAGAACTGGAGTTATCTTAGGCCCCAGAGTTTATTGCCATCTTAAGGACCAG... |
Task1_train_7247 | A genetic alteration is present in CPOX (coproporphyrinogen oxidase) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Harderoporphyria | TTCTGTTTTCCTATGAAAAGGATAACTGTAAGACTGATGTTCAAGGTCTGGGGGAGGATAGCAGTAACTGTGGGCAAGAAACTGGATGAGATTGCCAAATAAGAGACTGTAAAGTCAAAAGGGAATGAGACTGACTGCTGAAAGGGAGACCGGTGTTTGGACAGGGTGAAGACGAGGCAAAGTGGGTAACAGTAAGTGAAAAGGATACAGAAAACTGGTCATGACTGCAGTATTAGAAACCAAAGACAGTGTTGATAGCCCCAGAGAAGAACTGGAGTTATCTTAGGCCCCAGAGTTTATTGCCATCTTAAGGACCAGAG... | TTCTGTTTTCCTATGAAAAGGATAACTGTAAGACTGATGTTCAAGGTCTGGGGGAGGATAGCAGTAACTGTGGGCAAGAAACTGGATGAGATTGCCAAATAAGAGACTGTAAAGTCAAAAGGGAATGAGACTGACTGCTGAAAGGGAGACCGGTGTTTGGACAGGGTGAAGACGAGGCAAAGTGGGTAACAGTAAGTGAAAAGGATACAGAAAACTGGTCATGACTGCAGTATTAGAAACCAAAGACAGTGTTGATAGCCCCAGAGAAGAACTGGAGTTATCTTAGGCCCCAGAGTTTATTGCCATCTTAAGGACCAGAG... |
Task1_train_7248 | Here is a genetic alteration in CPOX (coproporphyrinogen oxidase) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Coproporphyria | GAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAACAAACAAACAAACAAACAAACAAACAAAAAAGAAGCCATTTCCTAACTGTTAAACTTGTAAAATAGTTTATATCCTAAAAGTAGTTCTTTTGATAATCTCTGCAT... | GAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAACAAACAAACAAACAAACAAACAAACAAAAAAGAAGCCATTTCCTAACTGTTAAACTTGTAAAATAGTTTATATCCTAAAAGTAGTTCTTTTGATAATCTCTGCAT... |
Task1_train_7249 | This variant affects gene CPOX (coproporphyrinogen oxidase) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Coproporphyria, digenic | AAATACAAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAACAAACAAACAAACAAACAAACAAACAAAAAAGAAGCCATTTCCTAACTGTTAAACTTGTAAAATAGTTTATATCCTAAAAGTAGTTCTTTTGATAATCTCTGCATAAGGGTCCTTAAATAGAAAAACATGCTCAAACAAAAACTAAAAGCTAT... | AAATACAAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAACAAACAAACAAACAAACAAACAAACAAAAAAGAAGCCATTTCCTAACTGTTAAACTTGTAAAATAGTTTATATCCTAAAAGTAGTTCTTTTGATAATCTCTGCATAAGGGTCCTTAAATAGAAAAACATGCTCAAACAAAAACTAAAAGCTAT... |
Task1_train_7250 | A genetic alteration is present in CPOX (coproporphyrinogen oxidase) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Coproporphyria | CAGGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGCAGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATATGGTGAAACCTCGTTGCTACTAAAAATACAAAACATAGCCGGGTGTGGTGGTCACCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAGACTCCATCTCAAAAAACAAAATAAAACAAAACAAAACAACAAGAAAAAAGA... | CAGGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGCAGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATATGGTGAAACCTCGTTGCTACTAAAAATACAAAACATAGCCGGGTGTGGTGGTCACCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAGACTCCATCTCAAAAAACAAAATAAAACAAAACAAAACAACAAGAAAAAAGA... |
Task1_train_7251 | Here is a genetic alteration in CPOX (coproporphyrinogen oxidase) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hereditary coproporphyria | TAATCCCAGCACTTTGGGAGGCCCAGGCAGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATATGGTGAAACCTCGTTGCTACTAAAAATACAAAACATAGCCGGGTGTGGTGGTCACCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAGACTCCATCTCAAAAAACAAAATAAAACAAAACAAAACAACAAGAAAAAAGAAGAAAGAAAGAAAGACAGTGGA... | TAATCCCAGCACTTTGGGAGGCCCAGGCAGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATATGGTGAAACCTCGTTGCTACTAAAAATACAAAACATAGCCGGGTGTGGTGGTCACCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAGACTCCATCTCAAAAAACAAAATAAAACAAAACAAAACAACAAGAAAAAAGAAGAAAGAAAGAAAGACAGTGGA... |
Task1_train_7252 | Given this variant in gene TFG (trafficking from ER to golgi regulator) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary motor and sensory neuropathy, Okinawa type | GTTCCTTTTACATTATTGCTGGTTTACACTTCTTGTAGGAAGGAGAAGGTAACAAATACATTGATTTATTGAAAGGTCTTTATTACTCTTAGGCTGCCAGAGCAAGCAAGATGGAATATTTACCATCTTGGTGAAGTAATTATACTTTAGAGTTGGCACATAGTAGGTATTTAATAAGTAGTTCCTGAATACCGAAAGCATTGCAGAAGGCATTGCAGAAGGCGAAGAGTTGGTTGTGTGGAGATTTCTGTTAATCACTGTCTTCACGAGAAGTCCATTGTGAGAACTGGCAGATAAAAAGCTAACTGTATTCTTATTTT... | GTTCCTTTTACATTATTGCTGGTTTACACTTCTTGTAGGAAGGAGAAGGTAACAAATACATTGATTTATTGAAAGGTCTTTATTACTCTTAGGCTGCCAGAGCAAGCAAGATGGAATATTTACCATCTTGGTGAAGTAATTATACTTTAGAGTTGGCACATAGTAGGTATTTAATAAGTAGTTCCTGAATACCGAAAGCATTGCAGAAGGCATTGCAGAAGGCGAAGAGTTGGTTGTGTGGAGATTTCTGTTAATCACTGTCTTCACGAGAAGTCCATTGTGAGAACTGGCAGATAAAAAGCTAACTGTATTCTTATTTT... |
Task1_train_7253 | Assess the clinical impact of this variant on gene TFG (trafficking from ER to golgi regulator), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 57 | GTTCCTTTTACATTATTGCTGGTTTACACTTCTTGTAGGAAGGAGAAGGTAACAAATACATTGATTTATTGAAAGGTCTTTATTACTCTTAGGCTGCCAGAGCAAGCAAGATGGAATATTTACCATCTTGGTGAAGTAATTATACTTTAGAGTTGGCACATAGTAGGTATTTAATAAGTAGTTCCTGAATACCGAAAGCATTGCAGAAGGCATTGCAGAAGGCGAAGAGTTGGTTGTGTGGAGATTTCTGTTAATCACTGTCTTCACGAGAAGTCCATTGTGAGAACTGGCAGATAAAAAGCTAACTGTATTCTTATTTT... | GTTCCTTTTACATTATTGCTGGTTTACACTTCTTGTAGGAAGGAGAAGGTAACAAATACATTGATTTATTGAAAGGTCTTTATTACTCTTAGGCTGCCAGAGCAAGCAAGATGGAATATTTACCATCTTGGTGAAGTAATTATACTTTAGAGTTGGCACATAGTAGGTATTTAATAAGTAGTTCCTGAATACCGAAAGCATTGCAGAAGGCATTGCAGAAGGCGAAGAGTTGGTTGTGTGGAGATTTCTGTTAATCACTGTCTTCACGAGAAGTCCATTGTGAGAACTGGCAGATAAAAAGCTAACTGTATTCTTATTTT... |
Task1_train_7254 | This alteration occurs within gene TFG (trafficking from ER to golgi regulator) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Inborn genetic diseases | CAGCAAGGGAGAATGAATACCACGGAGAACAATAGGATGTCTTACAAGTATGTTAGAAAAGTATTTTTTTTTGGGCTTGGGTTTGTGTTACCTGATTTTGGATAAGGTTCAAGGAAGTAGAGCTTTGCTCTGCATTGGATGCTCTCAGGAAGTAGAGATGATTCTATGTTTGGGTATCTTATCAAATCTTATCTAGAAGGTGAGAGGAATGAATCTTACTAAATCTTATCTGGAAGGTGAGAGGAATGAATTGAGGCTAAAGCTGCAGTTGGTAAAGTAGTAGCAGTTACTCATATTAGCCAGGATAAAAGGTTGTTTGG... | CAGCAAGGGAGAATGAATACCACGGAGAACAATAGGATGTCTTACAAGTATGTTAGAAAAGTATTTTTTTTTGGGCTTGGGTTTGTGTTACCTGATTTTGGATAAGGTTCAAGGAAGTAGAGCTTTGCTCTGCATTGGATGCTCTCAGGAAGTAGAGATGATTCTATGTTTGGGTATCTTATCAAATCTTATCTAGAAGGTGAGAGGAATGAATCTTACTAAATCTTATCTGGAAGGTGAGAGGAATGAATTGAGGCTAAAGCTGCAGTTGGTAAAGTAGTAGCAGTTACTCATATTAGCCAGGATAAAAGGTTGTTTGG... |
Task1_train_7255 | Here is a variant affecting TFG (trafficking from ER to golgi regulator) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hereditary spastic paraplegia 57 | CAGCAAGGGAGAATGAATACCACGGAGAACAATAGGATGTCTTACAAGTATGTTAGAAAAGTATTTTTTTTTGGGCTTGGGTTTGTGTTACCTGATTTTGGATAAGGTTCAAGGAAGTAGAGCTTTGCTCTGCATTGGATGCTCTCAGGAAGTAGAGATGATTCTATGTTTGGGTATCTTATCAAATCTTATCTAGAAGGTGAGAGGAATGAATCTTACTAAATCTTATCTGGAAGGTGAGAGGAATGAATTGAGGCTAAAGCTGCAGTTGGTAAAGTAGTAGCAGTTACTCATATTAGCCAGGATAAAAGGTTGTTTGG... | CAGCAAGGGAGAATGAATACCACGGAGAACAATAGGATGTCTTACAAGTATGTTAGAAAAGTATTTTTTTTTGGGCTTGGGTTTGTGTTACCTGATTTTGGATAAGGTTCAAGGAAGTAGAGCTTTGCTCTGCATTGGATGCTCTCAGGAAGTAGAGATGATTCTATGTTTGGGTATCTTATCAAATCTTATCTAGAAGGTGAGAGGAATGAATCTTACTAAATCTTATCTGGAAGGTGAGAGGAATGAATTGAGGCTAAAGCTGCAGTTGGTAAAGTAGTAGCAGTTACTCATATTAGCCAGGATAAAAGGTTGTTTGG... |
Task1_train_7256 | Given this variant in gene TFG (trafficking from ER to golgi regulator) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary motor and sensory neuropathy, Okinawa type | CAGCAAGGGAGAATGAATACCACGGAGAACAATAGGATGTCTTACAAGTATGTTAGAAAAGTATTTTTTTTTGGGCTTGGGTTTGTGTTACCTGATTTTGGATAAGGTTCAAGGAAGTAGAGCTTTGCTCTGCATTGGATGCTCTCAGGAAGTAGAGATGATTCTATGTTTGGGTATCTTATCAAATCTTATCTAGAAGGTGAGAGGAATGAATCTTACTAAATCTTATCTGGAAGGTGAGAGGAATGAATTGAGGCTAAAGCTGCAGTTGGTAAAGTAGTAGCAGTTACTCATATTAGCCAGGATAAAAGGTTGTTTGG... | CAGCAAGGGAGAATGAATACCACGGAGAACAATAGGATGTCTTACAAGTATGTTAGAAAAGTATTTTTTTTTGGGCTTGGGTTTGTGTTACCTGATTTTGGATAAGGTTCAAGGAAGTAGAGCTTTGCTCTGCATTGGATGCTCTCAGGAAGTAGAGATGATTCTATGTTTGGGTATCTTATCAAATCTTATCTAGAAGGTGAGAGGAATGAATCTTACTAAATCTTATCTGGAAGGTGAGAGGAATGAATTGAGGCTAAAGCTGCAGTTGGTAAAGTAGTAGCAGTTACTCATATTAGCCAGGATAAAAGGTTGTTTGG... |
Task1_train_7257 | With a mutation on Chromosome 3 in gene TFG (trafficking from ER to golgi regulator), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary motor and sensory neuropathy, Okinawa type | ATAGCAGTTTATGAAAACATGCAAAAAAAAAAAGCTTTATGAAGAGTTGTACCCTATAAATTTTTATTGAGGGGAATAACTGTGGTTTTGACCAGGAGTTCCTTACTCATTGATGACCACAGTCTACTACTACGTGGAACCTTAATCTCAGCCTTTTTTGATGATGCCCAAGTTAATATTTATATTGTTTTGTTCATGGGATAATATATGCAAAATGACTTTATAAACTAAAGCTTTGGAGTTATGCCTGAGTTCCAGTGATGGTTCTTAGCTCTTCATGGTTCTGTTCTTAGCTATTGACTGCAGGTAAGTTGCTTAAT... | ATAGCAGTTTATGAAAACATGCAAAAAAAAAAAGCTTTATGAAGAGTTGTACCCTATAAATTTTTATTGAGGGGAATAACTGTGGTTTTGACCAGGAGTTCCTTACTCATTGATGACCACAGTCTACTACTACGTGGAACCTTAATCTCAGCCTTTTTTGATGATGCCCAAGTTAATATTTATATTGTTTTGTTCATGGGATAATATATGCAAAATGACTTTATAAACTAAAGCTTTGGAGTTATGCCTGAGTTCCAGTGATGGTTCTTAGCTCTTCATGGTTCTGTTCTTAGCTATTGACTGCAGGTAAGTTGCTTAAT... |
Task1_train_7258 | Gene TFG (trafficking from ER to golgi regulator) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary spastic paraplegia 57 | ATAGCAGTTTATGAAAACATGCAAAAAAAAAAAGCTTTATGAAGAGTTGTACCCTATAAATTTTTATTGAGGGGAATAACTGTGGTTTTGACCAGGAGTTCCTTACTCATTGATGACCACAGTCTACTACTACGTGGAACCTTAATCTCAGCCTTTTTTGATGATGCCCAAGTTAATATTTATATTGTTTTGTTCATGGGATAATATATGCAAAATGACTTTATAAACTAAAGCTTTGGAGTTATGCCTGAGTTCCAGTGATGGTTCTTAGCTCTTCATGGTTCTGTTCTTAGCTATTGACTGCAGGTAAGTTGCTTAAT... | ATAGCAGTTTATGAAAACATGCAAAAAAAAAAAGCTTTATGAAGAGTTGTACCCTATAAATTTTTATTGAGGGGAATAACTGTGGTTTTGACCAGGAGTTCCTTACTCATTGATGACCACAGTCTACTACTACGTGGAACCTTAATCTCAGCCTTTTTTGATGATGCCCAAGTTAATATTTATATTGTTTTGTTCATGGGATAATATATGCAAAATGACTTTATAAACTAAAGCTTTGGAGTTATGCCTGAGTTCCAGTGATGGTTCTTAGCTCTTCATGGTTCTGTTCTTAGCTATTGACTGCAGGTAAGTTGCTTAAT... |
Task1_train_7259 | Here is a variant affecting IMPG2 (interphotoreceptor matrix proteoglycan 2) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Retinal dystrophy | ATTTGTACCTCATCAAGGCTCCTTAGCATCTTATTCTTAGTGCTACTTCTGTTTTTCTTCAATTTGACACCCCTTTGAGGACAAGGACCATGTGTTTATTCAAATTCATAGCTCTCTTCCACCCAGCCAGCTCCTTGTCCAATATTTGGCACCTGGTAAGTACTAAATAAATGTGTAAATGGAACATTGTATTCCATTAGAGAGCTCTTTTCCTTATTTACCTGAAGGGACTCTCTCTTTCACTCCTGTCATGGTGTGCTTGGAGAGTCCTGATGAAGAAGTAGATGATAGCAGAAAAGATGACAAGAAGTCCAACCACG... | ATTTGTACCTCATCAAGGCTCCTTAGCATCTTATTCTTAGTGCTACTTCTGTTTTTCTTCAATTTGACACCCCTTTGAGGACAAGGACCATGTGTTTATTCAAATTCATAGCTCTCTTCCACCCAGCCAGCTCCTTGTCCAATATTTGGCACCTGGTAAGTACTAAATAAATGTGTAAATGGAACATTGTATTCCATTAGAGAGCTCTTTTCCTTATTTACCTGAAGGGACTCTCTCTTTCACTCCTGTCATGGTGTGCTTGGAGAGTCCTGATGAAGAAGTAGATGATAGCAGAAAAGATGACAAGAAGTCCAACCACG... |
Task1_train_7260 | A variant on Chromosome 3 in gene IMPG2 (interphotoreceptor matrix proteoglycan 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Vitelliform macular dystrophy 2 | CTAGGCAACACATCATTCCCTTCATCTGCTTTTTCTATTAAATAATTATTGGAAGTATATTTTCTATGCCTTCAAATATAAATTTACTAAAAGTTCCACTTGTAAGAGATACATTCCAAGGTAACATCAGAAGATTCTGTTCTTCTGGTAATACTAACCCATCATATATATTTGCCACACTAATGGCTGATCCTATATTGCGGACATAATTAAGATAGGCAATGCAATTAGAAATATAAGTATGTATATGTGTGTGTATGTCTATATATTTTCCATTAAATAGCTATCCCATGTTAGCCACTGCAATTTGTAAAATTGGT... | CTAGGCAACACATCATTCCCTTCATCTGCTTTTTCTATTAAATAATTATTGGAAGTATATTTTCTATGCCTTCAAATATAAATTTACTAAAAGTTCCACTTGTAAGAGATACATTCCAAGGTAACATCAGAAGATTCTGTTCTTCTGGTAATACTAACCCATCATATATATTTGCCACACTAATGGCTGATCCTATATTGCGGACATAATTAAGATAGGCAATGCAATTAGAAATATAAGTATGTATATGTGTGTGTATGTCTATATATTTTCCATTAAATAGCTATCCCATGTTAGCCACTGCAATTTGTAAAATTGGT... |
Task1_train_7261 | The gene TRMT10C (tRNA methyltransferase 10C, mitochondrial RNase P subunit), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Combined oxidative phosphorylation defect type 30 | GAATAGGATAGAATGCGGAGTTACATCCACCTTTAAGGGAGGGGCATCTGGACATCAGTGCACAGGTCAGAGAGCAGGAAACCTAGGAGCCTGTGCAGGGTCATTAAATGAAGCCAAGGGAAGAAGGAATTTTTCAAGTGTTTTATTTGCATTTTGTAAAAATTTGAATTCCCTTTATTTCTTTTCCTTCAAATTTGAGACAAGTTTTACATCTTTAAGCATCTTCAATATCTCATGGACATCCAGGCTTTTAGGATAAAACTGTGGAGCTTTATATACATTTATATACATTTGTCTCAATCTTGGACATTTTCTTTGTT... | GAATAGGATAGAATGCGGAGTTACATCCACCTTTAAGGGAGGGGCATCTGGACATCAGTGCACAGGTCAGAGAGCAGGAAACCTAGGAGCCTGTGCAGGGTCATTAAATGAAGCCAAGGGAAGAAGGAATTTTTCAAGTGTTTTATTTGCATTTTGTAAAAATTTGAATTCCCTTTATTTCTTTTCCTTCAAATTTGAGACAAGTTTTACATCTTTAAGCATCTTCAATATCTCATGGACATCCAGGCTTTTAGGATAAAACTGTGGAGCTTTATATACATTTATATACATTTGTCTCAATCTTGGACATTTTCTTTGTT... |
Task1_train_7262 | A variant on Chromosome 3 in gene TRMT10C (tRNA methyltransferase 10C, mitochondrial RNase P subunit) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Mitochondrial disease | GAATAGGATAGAATGCGGAGTTACATCCACCTTTAAGGGAGGGGCATCTGGACATCAGTGCACAGGTCAGAGAGCAGGAAACCTAGGAGCCTGTGCAGGGTCATTAAATGAAGCCAAGGGAAGAAGGAATTTTTCAAGTGTTTTATTTGCATTTTGTAAAAATTTGAATTCCCTTTATTTCTTTTCCTTCAAATTTGAGACAAGTTTTACATCTTTAAGCATCTTCAATATCTCATGGACATCCAGGCTTTTAGGATAAAACTGTGGAGCTTTATATACATTTATATACATTTGTCTCAATCTTGGACATTTTCTTTGTT... | GAATAGGATAGAATGCGGAGTTACATCCACCTTTAAGGGAGGGGCATCTGGACATCAGTGCACAGGTCAGAGAGCAGGAAACCTAGGAGCCTGTGCAGGGTCATTAAATGAAGCCAAGGGAAGAAGGAATTTTTCAAGTGTTTTATTTGCATTTTGTAAAAATTTGAATTCCCTTTATTTCTTTTCCTTCAAATTTGAGACAAGTTTTACATCTTTAAGCATCTTCAATATCTCATGGACATCCAGGCTTTTAGGATAAAACTGTGGAGCTTTATATACATTTATATACATTTGTCTCAATCTTGGACATTTTCTTTGTT... |
Task1_train_7263 | A change on Chromosome 3 affects gene ZBTB11 (zinc finger and BTB domain containing 11). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Intellectual developmental disorder, autosomal recessive 69 | CATAAAAGACACAATTCCAAATTTTAGTCAGGTTGAAATGTTTTTCCACTAACTGAAAGATAAGATAAATGAGCAGCCATTATAAAGTTATGGGCTGTATGTCAATTCACGTCTTAAAATTGAAAGTCAGCCACACAGCTGTTAAAACAATGGGAAATTTGCAAATGCAAATATATAATGCATGCACAGCTATCACATTTATTCTTTATCCTTAAAGCCATTTTTAAAGTAAACTGGGAGAGGCAACTTAGTAATATATGTACATCAAGGCACATTCTTTTCTTGTGCTTTAGGAATGATTTACATGTGATCTGCTTATA... | CATAAAAGACACAATTCCAAATTTTAGTCAGGTTGAAATGTTTTTCCACTAACTGAAAGATAAGATAAATGAGCAGCCATTATAAAGTTATGGGCTGTATGTCAATTCACGTCTTAAAATTGAAAGTCAGCCACACAGCTGTTAAAACAATGGGAAATTTGCAAATGCAAATATATAATGCATGCACAGCTATCACATTTATTCTTTATCCTTAAAGCCATTTTTAAAGTAAACTGGGAGAGGCAACTTAGTAATATATGTACATCAAGGCACATTCTTTTCTTGTGCTTTAGGAATGATTTACATGTGATCTGCTTATA... |
Task1_train_7264 | A mutation on Chromosome 3 affecting ZBTB11 (zinc finger and BTB domain containing 11) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Intellectual developmental disorder, autosomal recessive 69 | AAATGAGCAGCCATTATAAAGTTATGGGCTGTATGTCAATTCACGTCTTAAAATTGAAAGTCAGCCACACAGCTGTTAAAACAATGGGAAATTTGCAAATGCAAATATATAATGCATGCACAGCTATCACATTTATTCTTTATCCTTAAAGCCATTTTTAAAGTAAACTGGGAGAGGCAACTTAGTAATATATGTACATCAAGGCACATTCTTTTCTTGTGCTTTAGGAATGATTTACATGTGATCTGCTTATATCTTAATTTTATACTTTATAACAGCTTCTAATACCTAAAAGCTTAATTTTTAACAATTATTCTTTG... | AAATGAGCAGCCATTATAAAGTTATGGGCTGTATGTCAATTCACGTCTTAAAATTGAAAGTCAGCCACACAGCTGTTAAAACAATGGGAAATTTGCAAATGCAAATATATAATGCATGCACAGCTATCACATTTATTCTTTATCCTTAAAGCCATTTTTAAAGTAAACTGGGAGAGGCAACTTAGTAATATATGTACATCAAGGCACATTCTTTTCTTGTGCTTTAGGAATGATTTACATGTGATCTGCTTATATCTTAATTTTATACTTTATAACAGCTTCTAATACCTAAAAGCTTAATTTTTAACAATTATTCTTTG... |
Task1_train_7265 | A mutation on Chromosome 3 affecting ZBTB11 (zinc finger and BTB domain containing 11) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Intellectual developmental disorder, autosomal recessive 69 | GTAAGGTTTTAATAAGCATTTCATGCATTTTAATGGCATTTTAAAAATTAGCTATTCATTTATGGGTTCCTCATATAGATAAATATATTGTGCAAACTTGATTACAACATGTAACTCATAAGTGCTTTAAAATAGAATAAAGCATCCCTGACTTAAAAGGGGATAAAATAAATAGTAAGTCAAGAATCACAGATCTAAAGCATTTAAAAAACGTAATATACCTATGCATCCTATTGAAATGCTTTATATTAGAATTTTCTTTTTAATCCATAAACAGGGCAAATAAATCACAGAATCTCTATATTTTGAGAATAAAACAG... | GTAAGGTTTTAATAAGCATTTCATGCATTTTAATGGCATTTTAAAAATTAGCTATTCATTTATGGGTTCCTCATATAGATAAATATATTGTGCAAACTTGATTACAACATGTAACTCATAAGTGCTTTAAAATAGAATAAAGCATCCCTGACTTAAAAGGGGATAAAATAAATAGTAAGTCAAGAATCACAGATCTAAAGCATTTAAAAAACGTAATATACCTATGCATCCTATTGAAATGCTTTATATTAGAATTTTCTTTTTAATCCATAAACAGGGCAAATAAATCACAGAATCTCTATATTTTGAGAATAAAACAG... |
Task1_train_7266 | The gene ZBTB11 (zinc finger and BTB domain containing 11), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Intellectual developmental disorder, autosomal recessive 69 | CGGAGACTCACTCTGTCACCCAGGATGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCCACCTCCAGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGAACCACCACAACCGGCTGATTTTGGTATTCTTAGTAGAGATGGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTTCTGACTTCAGATGATCTGCCCGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCTTGAGCTGTTGTGCCTGTCCCGATTAATTTTACGTTATATGAATTTTACCTCGATTGTAAC... | CGGAGACTCACTCTGTCACCCAGGATGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCCACCTCCAGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGAACCACCACAACCGGCTGATTTTGGTATTCTTAGTAGAGATGGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTTCTGACTTCAGATGATCTGCCCGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCTTGAGCTGTTGTGCCTGTCCCGATTAATTTTACGTTATATGAATTTTACCTCGATTGTAAC... |
Task1_train_7267 | Here is a mutation in ZBTB11 (zinc finger and BTB domain containing 11) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Intellectual developmental disorder, autosomal recessive 69 | TGGTATCCCATACCTTGGGGAGGCAGAGACAGGTGGATCATTTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGCATATAAAAATACAAAAAAATTAGCCAGGCATGGTGGCTCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACCTGAACCTGGGAGATGGAGGATGCAGTGAGCCAAGATTGCGCCACTGCACTCTAGCCTGGGTGACAGAACAAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAAACTTAATATTCAGTAAGCTTTTACTCTTCCCTGTTTT... | TGGTATCCCATACCTTGGGGAGGCAGAGACAGGTGGATCATTTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGCATATAAAAATACAAAAAAATTAGCCAGGCATGGTGGCTCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACCTGAACCTGGGAGATGGAGGATGCAGTGAGCCAAGATTGCGCCACTGCACTCTAGCCTGGGTGACAGAACAAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAAACTTAATATTCAGTAAGCTTTTACTCTTCCCTGTTTT... |
Task1_train_7268 | The gene ZBTB11, ZBTB11-AS1 (zinc finger and BTB domain containing 11| ZBTB11 antisense RNA 1) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Intellectual developmental disorder, autosomal recessive 69 | AAATAAATAAATAAATAAATAAACATCGTCTCAGGTTTTTGCCTTTTAAGACACTGCACACTAAAAATTAAAAAAAAAACAACTGGATTAGAATCACTCACAGATAATGAACTTAGAAAAAGAAAAATTCTGAACACAAAATACCACATAACACTGGGTTAAGAAAAGTGTGAGATCACAAAGGTCAGCTGTGTGACTTTTGTTGTGTTATTTAACATCCTAGTGCTTTTAGTTTTTTCATCTGTAAAACAGATAGAGGCTGAAAAGGGAGGATCATCTGAGCCTAGGAGGTCGAGGCTACAGTGAGCTGTGATCGTTGT... | AAATAAATAAATAAATAAATAAACATCGTCTCAGGTTTTTGCCTTTTAAGACACTGCACACTAAAAATTAAAAAAAAAACAACTGGATTAGAATCACTCACAGATAATGAACTTAGAAAAAGAAAAATTCTGAACACAAAATACCACATAACACTGGGTTAAGAAAAGTGTGAGATCACAAAGGTCAGCTGTGTGACTTTTGTTGTGTTATTTAACATCCTAGTGCTTTTAGTTTTTTCATCTGTAAAACAGATAGAGGCTGAAAAGGGAGGATCATCTGAGCCTAGGAGGTCGAGGCTACAGTGAGCTGTGATCGTTGT... |
Task1_train_7269 | A variant was discovered in gene LOC126806757, CBLB (P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:105438452-105439651| Cbl proto-oncogene B), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Autoimmune disease, multisystem, infantile-onset, 3 | AGTCTCAAGTCTGTTTCAATCTAAGATTATTTTTTCTTGTTCATCCTTCAGGATTTCTGAGGAATAACTACTTTCTTCCATTTCTTAGGTCAAAAAAAATCACATAATTCAAACTATTAATAAAAACTGTATCTTTCAGGATTAAAGAGTGAAATCGTGTAGTTTCTCTGAGTGTTAAATTATAACATTTATGAAAAACCAATAAGATAAATAATAAAAATCATTCCAGAAAAATGCAAAATTTGAGAGTAGCCATGTTGGTGATGTTAACATATCTTCCTATGTAAAAATTTGTATGTAAAATATCCTAAGGGAATGTA... | AGTCTCAAGTCTGTTTCAATCTAAGATTATTTTTTCTTGTTCATCCTTCAGGATTTCTGAGGAATAACTACTTTCTTCCATTTCTTAGGTCAAAAAAAATCACATAATTCAAACTATTAATAAAAACTGTATCTTTCAGGATTAAAGAGTGAAATCGTGTAGTTTCTCTGAGTGTTAAATTATAACATTTATGAAAAACCAATAAGATAAATAATAAAAATCATTCCAGAAAAATGCAAAATTTGAGAGTAGCCATGTTGGTGATGTTAACATATCTTCCTATGTAAAAATTTGTATGTAAAATATCCTAAGGGAATGTA... |
Task1_train_7270 | An alteration has been detected in CBLB (Cbl proto-oncogene B) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autoimmune disease, multisystem, infantile-onset, 3 | AGGATTTTTTTCTCAGAGGACATTATTCTAGTTTTTTAAGGTATGACTGATATACAAAAAAGCTGTATAAAATGTATATATTGTACACATTTGAAGATAAGTTTACTGGTGGGTCTTATGATATTCTTATCAGAGGGCAGTAGTTTTTTACTAAGAGAACTTTTCCAAATAGTAATGAGACCTGGCTGTTGTTCTCAATATTGTAATTCATGTTCTCCATGATACTGAACAAGAAAACAAAACCAAAAATAAAGGCCTCAGTTCCCTCATTATTTCTATGATTGGACAAGAAAATTTATCAAATAACTCACATGTTAAAT... | AGGATTTTTTTCTCAGAGGACATTATTCTAGTTTTTTAAGGTATGACTGATATACAAAAAAGCTGTATAAAATGTATATATTGTACACATTTGAAGATAAGTTTACTGGTGGGTCTTATGATATTCTTATCAGAGGGCAGTAGTTTTTTACTAAGAGAACTTTTCCAAATAGTAATGAGACCTGGCTGTTGTTCTCAATATTGTAATTCATGTTCTCCATGATACTGAACAAGAAAACAAAACCAAAAATAAAGGCCTCAGTTCCCTCATTATTTCTATGATTGGACAAGAAAATTTATCAAATAACTCACATGTTAAAT... |
Task1_train_7271 | Gene CD96 (CD96 molecule) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; C syndrome | ACAGCCTCCCTCCTGGCTGCTTTCACAGGCTAGTGTTGAGTGTCTGCAGCTTTTTCAGGAGCACAGTGCAATCTGTTGGTGGATCTACCATTCTGGGGTCTGGAGGATGGTGGCCCTCTTCTCACAGCTCCACTAGTCAGTGCCCCATTAGGGACTCTGTGTGGGGGCTCCAACCCCACATTTCCCTTCTGCACTGCCCAAGCAGAGGTTCTTCATGAGGGCCCCGCCCTTGCAGCAAACTTTTGCTGGGTATTCAGACATTTCCATAAATCTTCTGAAATCTAGGTAGATGTTCCCAAACCTCAGTTCTTGACTTCTCT... | ACAGCCTCCCTCCTGGCTGCTTTCACAGGCTAGTGTTGAGTGTCTGCAGCTTTTTCAGGAGCACAGTGCAATCTGTTGGTGGATCTACCATTCTGGGGTCTGGAGGATGGTGGCCCTCTTCTCACAGCTCCACTAGTCAGTGCCCCATTAGGGACTCTGTGTGGGGGCTCCAACCCCACATTTCCCTTCTGCACTGCCCAAGCAGAGGTTCTTCATGAGGGCCCCGCCCTTGCAGCAAACTTTTGCTGGGTATTCAGACATTTCCATAAATCTTCTGAAATCTAGGTAGATGTTCCCAAACCTCAGTTCTTGACTTCTCT... |
Task1_train_7272 | The gene RMP64 (ribonuclease MRP subunit p64), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Anauxetic dysplasia 3 | CTGTCCTAAAAATTCAGTGATATCAGAAGGAAAGGTAAAATCTTTGAAGTAAGGCATTGGTTGAATCCTAGCGACCTCTTGAAGCAATCCAAACAAAGGCTCATATAACAAAATCAACCTTTTTAAGACACCTTTATAGAGAACCCTAGAGAAAGAAATAGGAGCTCATTAATTAGCCAGTAATTACAATTTGCAGATTACATAATAAACTGCAAGATTGAAAGCTGAAAATAAATGGCTATCAAGGTCCTCCAGTACAGATAAAAAACACTATAGTGCACACTTGCGAACAGCCAGATTAGTCCAACCCAACAGAAAAA... | CTGTCCTAAAAATTCAGTGATATCAGAAGGAAAGGTAAAATCTTTGAAGTAAGGCATTGGTTGAATCCTAGCGACCTCTTGAAGCAATCCAAACAAAGGCTCATATAACAAAATCAACCTTTTTAAGACACCTTTATAGAGAACCCTAGAGAAAGAAATAGGAGCTCATTAATTAGCCAGTAATTACAATTTGCAGATTACATAATAAACTGCAAGATTGAAAGCTGAAAATAAATGGCTATCAAGGTCCTCCAGTACAGATAAAAAACACTATAGTGCACACTTGCGAACAGCCAGATTAGTCCAACCCAACAGAAAAA... |
Task1_train_7273 | This gene mutation involves NEPRO (ribonuclease MRP subunit p64) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Anauxetic dysplasia 3 | TCTAAACACAGAAACTTTTTTTCTTTTCTCCATCCAATGTTTTCTTACATTCATATTAGAACTAATAATCTTAATTGTTTGAAATGGCCCAAAACAGGCCTTCTTACAGATACGGGCAAATTCTAATTATCCATCAGATCAGTTTCACAATATGTACTGAGAGACATGAAAGAGATGTCTCTTTAGTTTCCAAGTATTACCAGCATACATCAACTAAATATGCTCAAAAAAGCAGTGGTGTTTGAGATGGAAGAAAATAGTCTAGCACATAAGAAGGTCAAAAATTGCATTTATCATTGCCATTAAAAATTAGAAACCGA... | TCTAAACACAGAAACTTTTTTTCTTTTCTCCATCCAATGTTTTCTTACATTCATATTAGAACTAATAATCTTAATTGTTTGAAATGGCCCAAAACAGGCCTTCTTACAGATACGGGCAAATTCTAATTATCCATCAGATCAGTTTCACAATATGTACTGAGAGACATGAAAGAGATGTCTCTTTAGTTTCCAAGTATTACCAGCATACATCAACTAAATATGCTCAAAAAAGCAGTGGTGTTTGAGATGGAAGAAAATAGTCTAGCACATAAGAAGGTCAAAAATTGCATTTATCATTGCCATTAAAAATTAGAAACCGA... |
Task1_train_7274 | Given this context: Chromosome 3, gene CFAP44, LOC127898559 (cilia and flagella associated protein 44| SPICE1-CFAP44 readthrough (NMD candidate)) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Spermatogenic failure 20 | TGTAGCTATCTCTTATTCATTTGGTCATATCCTACCAATTTCTCAAAATCAAGGTACAATAATACAAAATAATAACTTAATTTTAACTTCTTCCTTTCTTGATAGTTCCCTGCTCTAAATTCACAACACACATTCTCTATACCAGGGGTGTCCAATCTTTTTGCTTCCCTGGGCCACACTGCAAAAAGAAGAATTGTCTTGGCCCACACATAAAATACACTAACACTAACAACAGCTGACGAGCTAAAAAAAAAAATTGCAAAATATCTCATAAAGTTTTAAGAAAGTTTATGAATTTGTGTTGCGCCTCATTCAAAGCC... | TGTAGCTATCTCTTATTCATTTGGTCATATCCTACCAATTTCTCAAAATCAAGGTACAATAATACAAAATAATAACTTAATTTTAACTTCTTCCTTTCTTGATAGTTCCCTGCTCTAAATTCACAACACACATTCTCTATACCAGGGGTGTCCAATCTTTTTGCTTCCCTGGGCCACACTGCAAAAAGAAGAATTGTCTTGGCCCACACATAAAATACACTAACACTAACAACAGCTGACGAGCTAAAAAAAAAAATTGCAAAATATCTCATAAAGTTTTAAGAAAGTTTATGAATTTGTGTTGCGCCTCATTCAAAGCC... |
Task1_train_7275 | This alteration occurs within gene ATP6V1A (ATPase H+ transporting V1 subunit A) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal recessive cutis laxa type 2D | ATAGTACTAGGTGCCAATTTAAAACAAAATCATCTAGAAATTTTAAATAAAAATAGAAGTTTTTGTAGCTATGAAATTGTGACTAATCAGAAATATTTTTTCTATTTTTACTTTTATCTTTTAATCTGTTTAATCTTTTTCATGGCTTGAAGATTTAAAATAAATGAAAATGTAAACAGTGACAACCCTCCTTGCCTTTGTTGTCTTGTATCTAGCCGTTTATCAAAACACATACACACCTCCATGCACACATGGAACCACATTTATAGCTCCCTTTATTTTATATCCTTCTAGTTTAGTAATTACATACATGAGCAAAT... | ATAGTACTAGGTGCCAATTTAAAACAAAATCATCTAGAAATTTTAAATAAAAATAGAAGTTTTTGTAGCTATGAAATTGTGACTAATCAGAAATATTTTTTCTATTTTTACTTTTATCTTTTAATCTGTTTAATCTTTTTCATGGCTTGAAGATTTAAAATAAATGAAAATGTAAACAGTGACAACCCTCCTTGCCTTTGTTGTCTTGTATCTAGCCGTTTATCAAAACACATACACACCTCCATGCACACATGGAACCACATTTATAGCTCCCTTTATTTTATATCCTTCTAGTTTAGTAATTACATACATGAGCAAAT... |
Task1_train_7276 | This variant affects the gene ATP6V1A (ATPase H+ transporting V1 subunit A) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy 93 | TAATCAGAAATATTTTTTCTATTTTTACTTTTATCTTTTAATCTGTTTAATCTTTTTCATGGCTTGAAGATTTAAAATAAATGAAAATGTAAACAGTGACAACCCTCCTTGCCTTTGTTGTCTTGTATCTAGCCGTTTATCAAAACACATACACACCTCCATGCACACATGGAACCACATTTATAGCTCCCTTTATTTTATATCCTTCTAGTTTAGTAATTACATACATGAGCAAATACAAATATTTGTATTTTTCTTTCCTTTCTCTCTCTCTCTCTCTCTATATATATATATACATGTGTATATATATACGTATATAT... | TAATCAGAAATATTTTTTCTATTTTTACTTTTATCTTTTAATCTGTTTAATCTTTTTCATGGCTTGAAGATTTAAAATAAATGAAAATGTAAACAGTGACAACCCTCCTTGCCTTTGTTGTCTTGTATCTAGCCGTTTATCAAAACACATACACACCTCCATGCACACATGGAACCACATTTATAGCTCCCTTTATTTTATATCCTTCTAGTTTAGTAATTACATACATGAGCAAATACAAATATTTGTATTTTTCTTTCCTTTCTCTCTCTCTCTCTCTCTATATATATATATACATGTGTATATATATACGTATATAT... |
Task1_train_7277 | This variant affects gene ATP6V1A (ATPase H+ transporting V1 subunit A) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | TAATGGCAAAAACCGATATCATTATTTTTGCACTGACCTAAATAAAATCAACTGGGCTTTCTCTGCTGCCCAGCAATCTTTCTTAATTTGTTGTCTGCTCTTTCCATTTTCTACGACTGCTTAAAAAGCGTAAACCGTCTCCTATCTCTCTCTCTTTCTCTCTCTGTCTCTCGCTTTTTAAGAGATAGGTTATCATTCTGTGACCCAGGCTGGAATGCAATGGCTAGATCATAGTTCACTGTAACCTCAAACTCCAGGACTCCAGTTATCCTCCTGCCCCAGCCTTCTGAATAGCTAGGCCATGGGCATGCACCACCATG... | TAATGGCAAAAACCGATATCATTATTTTTGCACTGACCTAAATAAAATCAACTGGGCTTTCTCTGCTGCCCAGCAATCTTTCTTAATTTGTTGTCTGCTCTTTCCATTTTCTACGACTGCTTAAAAAGCGTAAACCGTCTCCTATCTCTCTCTCTTTCTCTCTCTGTCTCTCGCTTTTTAAGAGATAGGTTATCATTCTGTGACCCAGGCTGGAATGCAATGGCTAGATCATAGTTCACTGTAACCTCAAACTCCAGGACTCCAGTTATCCTCCTGCCCCAGCCTTCTGAATAGCTAGGCCATGGGCATGCACCACCATG... |
Task1_train_7278 | Consider this mutation in ATP6V1A (ATPase H+ transporting V1 subunit A) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Developmental and epileptic encephalopathy 93 | AATGGCAAAAACCGATATCATTATTTTTGCACTGACCTAAATAAAATCAACTGGGCTTTCTCTGCTGCCCAGCAATCTTTCTTAATTTGTTGTCTGCTCTTTCCATTTTCTACGACTGCTTAAAAAGCGTAAACCGTCTCCTATCTCTCTCTCTTTCTCTCTCTGTCTCTCGCTTTTTAAGAGATAGGTTATCATTCTGTGACCCAGGCTGGAATGCAATGGCTAGATCATAGTTCACTGTAACCTCAAACTCCAGGACTCCAGTTATCCTCCTGCCCCAGCCTTCTGAATAGCTAGGCCATGGGCATGCACCACCATGC... | AATGGCAAAAACCGATATCATTATTTTTGCACTGACCTAAATAAAATCAACTGGGCTTTCTCTGCTGCCCAGCAATCTTTCTTAATTTGTTGTCTGCTCTTTCCATTTTCTACGACTGCTTAAAAAGCGTAAACCGTCTCCTATCTCTCTCTCTTTCTCTCTCTGTCTCTCGCTTTTTAAGAGATAGGTTATCATTCTGTGACCCAGGCTGGAATGCAATGGCTAGATCATAGTTCACTGTAACCTCAAACTCCAGGACTCCAGTTATCCTCCTGCCCCAGCCTTCTGAATAGCTAGGCCATGGGCATGCACCACCATGC... |
Task1_train_7279 | The gene ATP6V1A (ATPase H+ transporting V1 subunit A) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Developmental and epileptic encephalopathy 93 | AAATTTTAACTATTCTTGCTTTATTAGATACCTGTTCAATCTGTATTTAACAATGAACTAGCATCTTTCTTGTGTGTATGAACCATTTAAAAACTGCCTTGTGTTCATTTTCCTTTTGGATGATAGTTGTTTTTCATACTGATTTCTAGAAACTCTTTTTGGTTTTTTGTTGTTTTTTTTTGTTTGTTTGTTGGTTTTGAGACAAAGTCTCACTCAGTCACCCAGGCTGGAATGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCTGGATTCAAGCAGTTCTACAACCTCAGCCTCCCGAGTAGCTGGGATTA... | AAATTTTAACTATTCTTGCTTTATTAGATACCTGTTCAATCTGTATTTAACAATGAACTAGCATCTTTCTTGTGTGTATGAACCATTTAAAAACTGCCTTGTGTTCATTTTCCTTTTGGATGATAGTTGTTTTTCATACTGATTTCTAGAAACTCTTTTTGGTTTTTTGTTGTTTTTTTTTGTTTGTTTGTTGGTTTTGAGACAAAGTCTCACTCAGTCACCCAGGCTGGAATGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCTGGATTCAAGCAGTTCTACAACCTCAGCCTCCCGAGTAGCTGGGATTA... |
Task1_train_7280 | Chromosome 3 houses a mutation in gene ATP6V1A (ATPase H+ transporting V1 subunit A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Developmental and epileptic encephalopathy 93 | TTAGATACCTGTTCAATCTGTATTTAACAATGAACTAGCATCTTTCTTGTGTGTATGAACCATTTAAAAACTGCCTTGTGTTCATTTTCCTTTTGGATGATAGTTGTTTTTCATACTGATTTCTAGAAACTCTTTTTGGTTTTTTGTTGTTTTTTTTTGTTTGTTTGTTGGTTTTGAGACAAAGTCTCACTCAGTCACCCAGGCTGGAATGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCTGGATTCAAGCAGTTCTACAACCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACCACACC... | TTAGATACCTGTTCAATCTGTATTTAACAATGAACTAGCATCTTTCTTGTGTGTATGAACCATTTAAAAACTGCCTTGTGTTCATTTTCCTTTTGGATGATAGTTGTTTTTCATACTGATTTCTAGAAACTCTTTTTGGTTTTTTGTTGTTTTTTTTTGTTTGTTTGTTGGTTTTGAGACAAAGTCTCACTCAGTCACCCAGGCTGGAATGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCTGGATTCAAGCAGTTCTACAACCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACCACACC... |
Task1_train_7281 | Mutation context: Chromosome 3, Gene ATP6V1A (ATPase H+ transporting V1 subunit A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy 93 | TATTTAACAATGAACTAGCATCTTTCTTGTGTGTATGAACCATTTAAAAACTGCCTTGTGTTCATTTTCCTTTTGGATGATAGTTGTTTTTCATACTGATTTCTAGAAACTCTTTTTGGTTTTTTGTTGTTTTTTTTTGTTTGTTTGTTGGTTTTGAGACAAAGTCTCACTCAGTCACCCAGGCTGGAATGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCTGGATTCAAGCAGTTCTACAACCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACCACACCTGGCTAATTTTTGTATTTTT... | TATTTAACAATGAACTAGCATCTTTCTTGTGTGTATGAACCATTTAAAAACTGCCTTGTGTTCATTTTCCTTTTGGATGATAGTTGTTTTTCATACTGATTTCTAGAAACTCTTTTTGGTTTTTTGTTGTTTTTTTTTGTTTGTTTGTTGGTTTTGAGACAAAGTCTCACTCAGTCACCCAGGCTGGAATGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCTGGATTCAAGCAGTTCTACAACCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACCACACCTGGCTAATTTTTGTATTTTT... |
Task1_train_7282 | The gene ATP6V1A (ATPase H+ transporting V1 subunit A) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Developmental and epileptic encephalopathy 93 | TTTTTTGTTGTTTTTTTTTGTTTGTTTGTTGGTTTTGAGACAAAGTCTCACTCAGTCACCCAGGCTGGAATGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCTGGATTCAAGCAGTTCTACAACCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGGGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGC... | TTTTTTGTTGTTTTTTTTTGTTTGTTTGTTGGTTTTGAGACAAAGTCTCACTCAGTCACCCAGGCTGGAATGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCTGGATTCAAGCAGTTCTACAACCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGGGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGC... |
Task1_train_7283 | The gene ATP6V1A (ATPase H+ transporting V1 subunit A), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Developmental and epileptic encephalopathy 93 | AGTATTAGAGTAGTATTATCCTTTAAGTCATAGTAACCCTAGTTATAGAAACAAAGAGGCCCAAAAATGTGTAATACCCAGAAGTTATTTCACTTCACAGTATGATCCAAGGCTCTCTTCTGTTTAGTGATAATTCTGAGTCCAGGATTCTTTCCATCTTGTGACTCCACTGTCACCTAGCCTGGTGATCATCTGCATCTAGCTGACACAAGGGAGCTGGGCCTTGTGGAGAAGGCATACCCACCTTTTTTGAACCTTGGATTCAAAAGTGACACAGTCACTCCACTCATTCTATTAGCCACATCCAGGTGAAAGCAAGG... | AGTATTAGAGTAGTATTATCCTTTAAGTCATAGTAACCCTAGTTATAGAAACAAAGAGGCCCAAAAATGTGTAATACCCAGAAGTTATTTCACTTCACAGTATGATCCAAGGCTCTCTTCTGTTTAGTGATAATTCTGAGTCCAGGATTCTTTCCATCTTGTGACTCCACTGTCACCTAGCCTGGTGATCATCTGCATCTAGCTGACACAAGGGAGCTGGGCCTTGTGGAGAAGGCATACCCACCTTTTTTGAACCTTGGATTCAAAAGTGACACAGTCACTCCACTCATTCTATTAGCCACATCCAGGTGAAAGCAAGG... |
Task1_train_7284 | This mutation is located in gene ZBTB20 (zinc finger and BTB domain containing 20) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Primrose syndrome | AAGGAAAAAAGTAATTTTGGCATCAATGCATCTTGATCTATAACAGGCTTCTCATAATGATGCTCTTTGTAGTTGGGAAGGGTGAGGAGCTATGGCAGAGTTTTGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAAT... | AAGGAAAAAAGTAATTTTGGCATCAATGCATCTTGATCTATAACAGGCTTCTCATAATGATGCTCTTTGTAGTTGGGAAGGGTGAGGAGCTATGGCAGAGTTTTGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAAT... |
Task1_train_7285 | Here is a variant affecting ZBTB20 (zinc finger and BTB domain containing 20) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Primrose syndrome | AATGCATCTTGATCTATAACAGGCTTCTCATAATGATGCTCTTTGTAGTTGGGAAGGGTGAGGAGCTATGGCAGAGTTTTGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTT... | AATGCATCTTGATCTATAACAGGCTTCTCATAATGATGCTCTTTGTAGTTGGGAAGGGTGAGGAGCTATGGCAGAGTTTTGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTT... |
Task1_train_7286 | The gene ZBTB20 (zinc finger and BTB domain containing 20) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Primrose syndrome | ATAACAGGCTTCTCATAATGATGCTCTTTGTAGTTGGGAAGGGTGAGGAGCTATGGCAGAGTTTTGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAA... | ATAACAGGCTTCTCATAATGATGCTCTTTGTAGTTGGGAAGGGTGAGGAGCTATGGCAGAGTTTTGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAA... |
Task1_train_7287 | This gene mutation involves ZBTB20 (zinc finger and BTB domain containing 20) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Primrose syndrome | ATAACAGGCTTCTCATAATGATGCTCTTTGTAGTTGGGAAGGGTGAGGAGCTATGGCAGAGTTTTGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAA... | ATAACAGGCTTCTCATAATGATGCTCTTTGTAGTTGGGAAGGGTGAGGAGCTATGGCAGAGTTTTGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAA... |
Task1_train_7288 | An alteration has been detected in ZBTB20 (zinc finger and BTB domain containing 20) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | TCTCATAATGATGCTCTTTGTAGTTGGGAAGGGTGAGGAGCTATGGCAGAGTTTTGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCA... | TCTCATAATGATGCTCTTTGTAGTTGGGAAGGGTGAGGAGCTATGGCAGAGTTTTGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCA... |
Task1_train_7289 | The gene ZBTB20 (zinc finger and BTB domain containing 20), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Primrose syndrome | GGGTGAGGAGCTATGGCAGAGTTTTGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCA... | GGGTGAGGAGCTATGGCAGAGTTTTGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCA... |
Task1_train_7290 | The gene ZBTB20 (zinc finger and BTB domain containing 20), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | AGGAGCTATGGCAGAGTTTTGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCAGGGAT... | AGGAGCTATGGCAGAGTTTTGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCAGGGAT... |
Task1_train_7291 | A mutation on Chromosome 3 affecting ZBTB20 (zinc finger and BTB domain containing 20) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Inborn genetic diseases | GAGCTATGGCAGAGTTTTGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCAGGGATGG... | GAGCTATGGCAGAGTTTTGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCAGGGATGG... |
Task1_train_7292 | This is a variant in ZBTB20 (zinc finger and BTB domain containing 20), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Primrose syndrome | GCAGAGTTTTGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCAGGGATGGGCTGGCCA... | GCAGAGTTTTGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCAGGGATGGGCTGGCCA... |
Task1_train_7293 | Consider a variant on Chromosome 3 in gene ZBTB20 (zinc finger and BTB domain containing 20). Determine its clinical classification and disease relevance. | Pathogenic; not provided | TGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCAGGGATGGGCTGGCCACAGAGGCCC... | TGTGAACTCCTCTTCCTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCAGGGATGGGCTGGCCACAGAGGCCC... |
Task1_train_7294 | The gene ZBTB20 (zinc finger and BTB domain containing 20) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Primrose syndrome | CTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCAGGGATGGGCTGGCCACAGAGGCCCTCATCAACCCAGGCA... | CTGGCTGATCACAAAAGAAAAGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCAGGGATGGGCTGGCCACAGAGGCCCTCATCAACCCAGGCA... |
Task1_train_7295 | This genomic variant is located on Chromosome 3, within the ZBTB20 (zinc finger and BTB domain containing 20) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Primrose syndrome | AGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCAGGGATGGGCTGGCCACAGAGGCCCTCATCAACCCAGGCAATACTTAAAATAATAAAAAT... | AGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCAGGGATGGGCTGGCCACAGAGGCCCTCATCAACCCAGGCAATACTTAAAATAATAAAAAT... |
Task1_train_7296 | A genomic change on Chromosome 3 affects ZBTB20 (zinc finger and BTB domain containing 20). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Primrose syndrome | AGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCAGGGATGGGCTGGCCACAGAGGCCCTCATCAACCCAGGCAATACTTAAAATAATAAAAAT... | AGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCAGGGATGGGCTGGCCACAGAGGCCCTCATCAACCCAGGCAATACTTAAAATAATAAAAAT... |
Task1_train_7297 | A mutation found in ZBTB20 (zinc finger and BTB domain containing 20) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Intellectual disability | AGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCAGGGATGGGCTGGCCACAGAGGCCCTCATCAACCCAGGCAATACTTAAAATAATAAAAAT... | AGACCCCATTTATCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCAGGGATGGGCTGGCCACAGAGGCCCTCATCAACCCAGGCAATACTTAAAATAATAAAAAT... |
Task1_train_7298 | Gene ZBTB20 (zinc finger and BTB domain containing 20) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Primrose syndrome | TCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCAGGGATGGGCTGGCCACAGAGGCCCTCATCAACCCAGGCAATACTTAAAATAATAAAAATTAAGAAAAATTA... | TCAAGACTTCTAGACTATTAGTGTTTCACTAAGAAAAAAAGTAAAGTCAATAGAAATTCTAGAATTGTAAGATCTCAATGAAATTTTGGAGAAGCAAGCAATCTCTTTCTGAAAGATAAAGTCTCTTCCATGAAAAAGAACAGAATTCTAGATGAATCAGTTGAAAAAATTATTCAGTGGGGCAACTTAAGCTTGCTAAAGTCAAAGAACTACATATCAAAATACAAAGCAGCAATTCAAATTACAGCAGGGATGGGCTGGCCACAGAGGCCCTCATCAACCCAGGCAATACTTAAAATAATAAAAATTAAGAAAAATTA... |
Task1_train_7299 | A variant has been detected on Chromosome 3 in ZBTB20 (zinc finger and BTB domain containing 20). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | ACCAGCAAAGTCAACTTTGGTTAAGGAGATACTTTCACAGATGGTCCTTCCTGCACCCCTCCCCCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAG... | ACCAGCAAAGTCAACTTTGGTTAAGGAGATACTTTCACAGATGGTCCTTCCTGCACCCCTCCCCCATGTTCCTTAATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAG... |
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