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_22800 | This genomic variant is located on Chromosome 16, within the HSF4 (heat shock transcription factor 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cataract 5 multiple types | ACGGCTCTAACCCAAGTTGCGAATGTGAGCTGGAAGGCATGCTGCCACCTTATCTGTCCGCCTGCCTCGACCACATTCACAACCTACGGCTGGAATTTGAGCCATCGAGGAAGCCGAGCCGCCGGGCGGCCATCGAGCTGCTGATGGTTCTGGCGGGCCGTGCCCCGGGGCTGCGAGGCCTGCGCCTGGAGTGCCGCGGAGAAAAACCGCTCTTCGACGCGGGCCGCGACGTCCTGGAGGCTGTGCACGCTGTATGCGGGGCGGCCAGCCAGCTACGCCACCTCGACCTGCGGCGCTTGTCCTTCACACTGGACGACGCG... | ACGGCTCTAACCCAAGTTGCGAATGTGAGCTGGAAGGCATGCTGCCACCTTATCTGTCCGCCTGCCTCGACCACATTCACAACCTACGGCTGGAATTTGAGCCATCGAGGAAGCCGAGCCGCCGGGCGGCCATCGAGCTGCTGATGGTTCTGGCGGGCCGTGCCCCGGGGCTGCGAGGCCTGCGCCTGGAGTGCCGCGGAGAAAAACCGCTCTTCGACGCGGGCCGCGACGTCCTGGAGGCTGTGCACGCTGTATGCGGGGCGGCCAGCCAGCTACGCCACCTCGACCTGCGGCGCTTGTCCTTCACACTGGACGACGCG... |
Task1_train_22801 | Given this variant in gene HSF4 (heat shock transcription factor 4) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cataract 5 multiple types | GCATTGTTTCTGCGTGGTGAGCCACTCGGTGCTGGACGCCTTCCGCGCGCACTGCCCGCGCCTGCGCACCTATACCCTCAAGCTCACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTC... | GCATTGTTTCTGCGTGGTGAGCCACTCGGTGCTGGACGCCTTCCGCGCGCACTGCCCGCGCCTGCGCACCTATACCCTCAAGCTCACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTC... |
Task1_train_22802 | The gene HSF4 (heat shock transcription factor 4) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cataract 5 multiple types | ACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCC... | ACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCC... |
Task1_train_22803 | Here’s a variant in HSF4 (heat shock transcription factor 4) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cataract 5 multiple types | TCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGA... | TCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGA... |
Task1_train_22804 | This genomic variant is located on Chromosome 16, within the HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Apparent mineralocorticoid excess | CCCCTACACTGGCTCTGCCTGGTGGTTCTTCTCTTCGCATACCAAAGACAGAAATTAAGCCTCCAAGAGTGGTAACTGACCTCGGTCACACTTGGTGGGTGTGGGAAAGGATTCAAATGTAGGTCTGTTCTCTTCTTCATCTATCATGGTCCCTGTCCTGGAGGCAAGTCGTCTGGGGCTCAGAAAACACCCCTGTTGCCACTGATTGGAATTCCAAGGGTCTGGGTGAAGTGGGGATGGGCCTCCAGCTTGCCTCCAGCCTGAAAAAATAGTAGAGGGTGTTGAGGCTGGGAAGGGAGGTGGGGCTCATGTTGTACAGG... | CCCCTACACTGGCTCTGCCTGGTGGTTCTTCTCTTCGCATACCAAAGACAGAAATTAAGCCTCCAAGAGTGGTAACTGACCTCGGTCACACTTGGTGGGTGTGGGAAAGGATTCAAATGTAGGTCTGTTCTCTTCTTCATCTATCATGGTCCCTGTCCTGGAGGCAAGTCGTCTGGGGCTCAGAAAACACCCCTGTTGCCACTGATTGGAATTCCAAGGGTCTGGGTGAAGTGGGGATGGGCCTCCAGCTTGCCTCCAGCCTGAAAAAATAGTAGAGGGTGTTGAGGCTGGGAAGGGAGGTGGGGCTCATGTTGTACAGG... |
Task1_train_22805 | This mutation occurs in HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Apparent mineralocorticoid excess, mild | TCCCTGTCCTGGAGGCAAGTCGTCTGGGGCTCAGAAAACACCCCTGTTGCCACTGATTGGAATTCCAAGGGTCTGGGTGAAGTGGGGATGGGCCTCCAGCTTGCCTCCAGCCTGAAAAAATAGTAGAGGGTGTTGAGGCTGGGAAGGGAGGTGGGGCTCATGTTGTACAGGGCCTGAGCCAGGGAGCTTGGGCTTCATTCTGAGTACTGTGGCAGCCCTGGGAAGGTTTGTAGCACAGAGGGATATTGTCATTTTTGGAAAGATCCCTTTGGCTGCTTAGGTAGAGAAGGGCTTCAAGAGGGCAGGAAGGGACAGGACTA... | TCCCTGTCCTGGAGGCAAGTCGTCTGGGGCTCAGAAAACACCCCTGTTGCCACTGATTGGAATTCCAAGGGTCTGGGTGAAGTGGGGATGGGCCTCCAGCTTGCCTCCAGCCTGAAAAAATAGTAGAGGGTGTTGAGGCTGGGAAGGGAGGTGGGGCTCATGTTGTACAGGGCCTGAGCCAGGGAGCTTGGGCTTCATTCTGAGTACTGTGGCAGCCCTGGGAAGGTTTGTAGCACAGAGGGATATTGTCATTTTTGGAAAGATCCCTTTGGCTGCTTAGGTAGAGAAGGGCTTCAAGAGGGCAGGAAGGGACAGGACTA... |
Task1_train_22806 | With a mutation on Chromosome 16 in gene HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Apparent mineralocorticoid excess | AGAGGCCTGGGCAGTCAGAAAGGAAGAGAAGCCGGATGTGGTGGCTTGTATCTTCAATCCCAGCACTTTGAGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAAACCAGCTTGGGCAACATAGTGAGACTCCCATCTCTCCAAAAAAATTTAAAAACCAGCCAGGTAGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGT... | AGAGGCCTGGGCAGTCAGAAAGGAAGAGAAGCCGGATGTGGTGGCTTGTATCTTCAATCCCAGCACTTTGAGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAAACCAGCTTGGGCAACATAGTGAGACTCCCATCTCTCCAAAAAAATTTAAAAACCAGCCAGGTAGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGT... |
Task1_train_22807 | The variant affects gene HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Apparent mineralocorticoid excess | AGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCG... | AGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCG... |
Task1_train_22808 | This variant affects gene HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Apparent mineralocorticoid excess | CTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGG... | CTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGG... |
Task1_train_22809 | This mutation occurs in CTCF (CCCTC-binding factor) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | ATTTCTAATTGTCTTGTGTCACATCTTTTTCACCATTTATTGGTTTGAATCAGGATCCAAAGAAGATTCATGCATTGTGATTGATTACTGTCTCTTTAAGACTCTTTTATCTGTATCAGAGTTTCTCAGCCTCAGTGCTCTTGACATCTTGGGCCTGATAATTCTTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGAGCTGGGACTACAGGCGCCCACCACCACG... | ATTTCTAATTGTCTTGTGTCACATCTTTTTCACCATTTATTGGTTTGAATCAGGATCCAAAGAAGATTCATGCATTGTGATTGATTACTGTCTCTTTAAGACTCTTTTATCTGTATCAGAGTTTCTCAGCCTCAGTGCTCTTGACATCTTGGGCCTGATAATTCTTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGAGCTGGGACTACAGGCGCCCACCACCACG... |
Task1_train_22810 | This gene mutation involves CTCF (CCCTC-binding factor) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTAAACCCAGGAGGCGGAGGTTGCGGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCGGTCTCAAGAAAAAGCCAGGCATGGTGGCCCATGCCTGTAATCCCAGCACTTCGGGAGGCTGAAGCAGGCGGATCACAAGGGCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATAGAAAAAAAAAATGTTAGCCAGGTGTGGTGGCATGTACCTGTAGTCCCAGCTACTCAGGAGGCT... | TGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTAAACCCAGGAGGCGGAGGTTGCGGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCGGTCTCAAGAAAAAGCCAGGCATGGTGGCCCATGCCTGTAATCCCAGCACTTCGGGAGGCTGAAGCAGGCGGATCACAAGGGCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATAGAAAAAAAAAATGTTAGCCAGGTGTGGTGGCATGTACCTGTAGTCCCAGCTACTCAGGAGGCT... |
Task1_train_22811 | Given this context: Chromosome 16, gene CTCF (CCCTC-binding factor) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | GCAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCA... | GCAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCA... |
Task1_train_22812 | This genomic variant is located on Chromosome 16, within the CTCF (CCCTC-binding factor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Inborn genetic diseases | GCAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCA... | GCAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCA... |
Task1_train_22813 | Given a variant located on Chromosome 16 and affecting CTCF (CCCTC-binding factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; CTCF-Related Neurodevelopmental Disorder | CAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAG... | CAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAG... |
Task1_train_22814 | Gene CTCF (CCCTC-binding factor) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | CAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAG... | CAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAG... |
Task1_train_22815 | Gene CTCF (CCCTC-binding factor) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | TTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGT... | TTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGT... |
Task1_train_22816 | This gene mutation involves CTCF (CCCTC-binding factor) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | ATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAG... | ATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAG... |
Task1_train_22817 | With a mutation on Chromosome 16 in gene CTCF (CCCTC-binding factor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | AAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCA... | AAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCA... |
Task1_train_22818 | Assess the clinical impact of this variant on gene CTCF (CCCTC-binding factor), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Inborn genetic diseases | AAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCA... | AAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCA... |
Task1_train_22819 | A mutation in CTCF (CCCTC-binding factor), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | ATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGT... | ATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGT... |
Task1_train_22820 | This alteration occurs within gene CARMIL2 (capping protein regulator and myosin 1 linker 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Severe combined immunodeficiency due to CARMIL2 deficiency | ACCATTTACCATCGCCAGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAG... | ACCATTTACCATCGCCAGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAG... |
Task1_train_22821 | Given a variant located on Chromosome 16 and affecting CARMIL2 (capping protein regulator and myosin 1 linker 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Chronic colitis | AGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTG... | AGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTG... |
Task1_train_22822 | Gene CARMIL2 (capping protein regulator and myosin 1 linker 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Combined immunodeficiency | AGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTG... | AGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTG... |
Task1_train_22823 | A mutation on Chromosome 16 affecting CARMIL2 (capping protein regulator and myosin 1 linker 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Severe combined immunodeficiency due to CARMIL2 deficiency | AGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTG... | AGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTG... |
Task1_train_22824 | A variant affecting Chromosome 16, within the gene PSMB10 (proteasome 20S subunit beta 10), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Proteasome-associated autoinflammatory syndrome 5 | AGCGGCCAGACCTGGGAGGGAGGAGGGACAGCCTCTGAACATGGGCCTGTCATGTGGCCCATCCCCTTTTTGCAGCCCCCTATCTCCCCTGCTATAGCCCCACACATCCCTGTGGTCCCCGATCTCCAGCTCTCACCTCTTCACGGGCTCTGTGGGTGAGCTCAGTGTCCGCAGCAGCTTGGCGCCAGTCTTTGTGATCACACATGCGTCCACATTGCCCCCGGAGCCCAGGTCACCCAAGATCCCGGCGGTGACGGCTTCCACCAGCAGCCCCTGAGCAGCCTCCAGCTGCGGTGATGGGTGTGTGAGACCTAACGGGC... | AGCGGCCAGACCTGGGAGGGAGGAGGGACAGCCTCTGAACATGGGCCTGTCATGTGGCCCATCCCCTTTTTGCAGCCCCCTATCTCCCCTGCTATAGCCCCACACATCCCTGTGGTCCCCGATCTCCAGCTCTCACCTCTTCACGGGCTCTGTGGGTGAGCTCAGTGTCCGCAGCAGCTTGGCGCCAGTCTTTGTGATCACACATGCGTCCACATTGCCCCCGGAGCCCAGGTCACCCAAGATCCCGGCGGTGACGGCTTCCACCAGCAGCCCCTGAGCAGCCTCCAGCTGCGGTGATGGGTGTGTGAGACCTAACGGGC... |
Task1_train_22825 | This mutation occurs in LCAT (lecithin-cholesterol acyltransferase) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; LCAT deficiency | TTTTTTTTTTTTTTTTTGGTAGAGATGGGGTTTCACCGTGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAGGCGATCCACCCTCCTCAGCCTTCCAAAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAAT... | TTTTTTTTTTTTTTTTTGGTAGAGATGGGGTTTCACCGTGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAGGCGATCCACCCTCCTCAGCCTTCCAAAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAAT... |
Task1_train_22826 | Consider a variant on Chromosome 16 in gene LCAT (lecithin-cholesterol acyltransferase). Determine its clinical classification and disease relevance. | Pathogenic; Norum disease | AAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAA... | AAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAA... |
Task1_train_22827 | Given this variant in gene LCAT (lecithin-cholesterol acyltransferase) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Fish-eye disease | AAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAA... | AAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAA... |
Task1_train_22828 | Assess the clinical impact of this variant on gene LCAT (lecithin-cholesterol acyltransferase), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Norum disease | GTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTT... | GTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTT... |
Task1_train_22829 | A mutation in LCAT (lecithin-cholesterol acyltransferase), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Fish-eye disease | GTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTT... | GTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTT... |
Task1_train_22830 | This mutation occurs in LCAT (lecithin-cholesterol acyltransferase) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; LCAT deficiency | TCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGT... | TCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGT... |
Task1_train_22831 | A variant has been detected on Chromosome 16 in LCAT (lecithin-cholesterol acyltransferase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; LCAT deficiency | CACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGA... | CACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGA... |
Task1_train_22832 | A mutation in LCAT (lecithin-cholesterol acyltransferase), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; LCAT deficiency | CTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAG... | CTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAG... |
Task1_train_22833 | A mutation in LCAT (lecithin-cholesterol acyltransferase), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; LCAT deficiency | TTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC... | TTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC... |
Task1_train_22834 | A variant has been detected on Chromosome 16 in LCAT (lecithin-cholesterol acyltransferase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; LCAT deficiency | CGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTG... | CGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTG... |
Task1_train_22835 | This variant affects the gene LCAT (lecithin-cholesterol acyltransferase) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; LCAT deficiency | CTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGA... | CTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGA... |
Task1_train_22836 | This variant affects the gene LCAT (lecithin-cholesterol acyltransferase) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | CAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGT... | CAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGT... |
Task1_train_22837 | Here is a variant affecting LCAT (lecithin-cholesterol acyltransferase) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Fish-eye disease | TGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGC... | TGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGC... |
Task1_train_22838 | Located on Chromosome 16, this mutation impacts LCAT (lecithin-cholesterol acyltransferase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Fish-eye disease | AAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCC... | AAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCC... |
Task1_train_22839 | A genomic change on Chromosome 16 affects LCAT (lecithin-cholesterol acyltransferase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Norum disease | AAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCC... | AAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCC... |
Task1_train_22840 | A variant found in Chromosome 16 affects LCAT, SLC12A4 (lecithin-cholesterol acyltransferase| solute carrier family 12 member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Norum disease | CTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAG... | CTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAG... |
Task1_train_22841 | Chromosome 16 houses a mutation in gene LCAT, SLC12A4 (lecithin-cholesterol acyltransferase| solute carrier family 12 member 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Fish-eye disease | CTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAG... | CTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAG... |
Task1_train_22842 | With a mutation on Chromosome 16 in gene PRMT7 (protein arginine methyltransferase 7), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Short stature-brachydactyly-obesity-global developmental delay syndrome | GTATGCGTACATGCAGGTATGTGTATTGAGTCTCATTTTAAAGTATATTTCTTACTGGGGTTATCAGAAAGTTTGAAAATCATTAGACTAGGGGATAGGTATGCTGAGATTTTAGTAGTAGAGTTTTACCTGGACAAATTGTCTACTTTGAACCTGACTGCCGGCCTGAGTTTGTTCAGGGAAGATTGTTTCTAATCTATTTGCTTTTTGTTTGTTTGTTTTGGTGACGGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGTGATTCTCCTGCC... | GTATGCGTACATGCAGGTATGTGTATTGAGTCTCATTTTAAAGTATATTTCTTACTGGGGTTATCAGAAAGTTTGAAAATCATTAGACTAGGGGATAGGTATGCTGAGATTTTAGTAGTAGAGTTTTACCTGGACAAATTGTCTACTTTGAACCTGACTGCCGGCCTGAGTTTGTTCAGGGAAGATTGTTTCTAATCTATTTGCTTTTTGTTTGTTTGTTTTGGTGACGGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGTGATTCTCCTGCC... |
Task1_train_22843 | Consider a variant on Chromosome 16 in gene PRMT7 (protein arginine methyltransferase 7). Determine its clinical classification and disease relevance. | Pathogenic; Neurodevelopmental abnormality | TAATTTAATGGCATCGTTAAAGTGAAGGCTGTGCCATCCCTGGTTTACAATTGAGGACGCTGTTCATCAATTTTTTTTAACTTAAAAAATAAATAAAACAAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCACGGGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCCCTACTAAAAATACAAAAAAAAGCCGAGCGTGGTGGCGGGCAGGGCCTGTAATCCCAGCTACTCAGGAGGCTGATGCGGGAGAATGGCGTGAATCTGGGAGGCGGAG... | TAATTTAATGGCATCGTTAAAGTGAAGGCTGTGCCATCCCTGGTTTACAATTGAGGACGCTGTTCATCAATTTTTTTTAACTTAAAAAATAAATAAAACAAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCACGGGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCCCTACTAAAAATACAAAAAAAAGCCGAGCGTGGTGGCGGGCAGGGCCTGTAATCCCAGCTACTCAGGAGGCTGATGCGGGAGAATGGCGTGAATCTGGGAGGCGGAG... |
Task1_train_22844 | A variant found in Chromosome 16 affects PRMT7 (protein arginine methyltransferase 7). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Short stature-brachydactyly-obesity-global developmental delay syndrome | TGTGTTTTTTGTAGAAATGGGTGTCACTGGTATGTTACCCAGGCTGGTCCCGTACACCTGGCCTCAAACGATTTGCCAGCCTCGGCCTCCCAAATTGTTGGGATTACAGGCATGAGCCACCGTGTCCAGCTGGCATCTACTTTTTAGGGCAGTTCTTCCTTTTTCAAAAAGAGGCTTAACAATTATGAGCGAAATAAACCTCATTATATAAAATAAAAATATCACTCATGGTCCTCCCTTTCACTCAAAATAGCTCCCTTTGTTTGGTCTCTCTCCAAACGCGTGGGTGTCATCGGTGCTCATCTCTGTTCCGGGCCCCG... | TGTGTTTTTTGTAGAAATGGGTGTCACTGGTATGTTACCCAGGCTGGTCCCGTACACCTGGCCTCAAACGATTTGCCAGCCTCGGCCTCCCAAATTGTTGGGATTACAGGCATGAGCCACCGTGTCCAGCTGGCATCTACTTTTTAGGGCAGTTCTTCCTTTTTCAAAAAGAGGCTTAACAATTATGAGCGAAATAAACCTCATTATATAAAATAAAAATATCACTCATGGTCCTCCCTTTCACTCAAAATAGCTCCCTTTGTTTGGTCTCTCTCCAAACGCGTGGGTGTCATCGGTGCTCATCTCTGTTCCGGGCCCCG... |
Task1_train_22845 | The following genetic variant occurs in PRMT7 (protein arginine methyltransferase 7) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Short stature-brachydactyly-obesity-global developmental delay syndrome | CTCAAACGATTTGCCAGCCTCGGCCTCCCAAATTGTTGGGATTACAGGCATGAGCCACCGTGTCCAGCTGGCATCTACTTTTTAGGGCAGTTCTTCCTTTTTCAAAAAGAGGCTTAACAATTATGAGCGAAATAAACCTCATTATATAAAATAAAAATATCACTCATGGTCCTCCCTTTCACTCAAAATAGCTCCCTTTGTTTGGTCTCTCTCCAAACGCGTGGGTGTCATCGGTGCTCATCTCTGTTCCGGGCCCCGTGGCCTTCAGCAGCAGCGTTTAAGATGTCTGTCCGTATTCTGCACGAGGGTTTATATCCCGT... | CTCAAACGATTTGCCAGCCTCGGCCTCCCAAATTGTTGGGATTACAGGCATGAGCCACCGTGTCCAGCTGGCATCTACTTTTTAGGGCAGTTCTTCCTTTTTCAAAAAGAGGCTTAACAATTATGAGCGAAATAAACCTCATTATATAAAATAAAAATATCACTCATGGTCCTCCCTTTCACTCAAAATAGCTCCCTTTGTTTGGTCTCTCTCCAAACGCGTGGGTGTCATCGGTGCTCATCTCTGTTCCGGGCCCCGTGGCCTTCAGCAGCAGCGTTTAAGATGTCTGTCCGTATTCTGCACGAGGGTTTATATCCCGT... |
Task1_train_22846 | Given this variant in gene CDH3 (cadherin 3) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; EEM syndrome | TCTTAAAAATCCAGATTTCCCCCCTTCCATCCCAAGGTTCCTGAATAAGAATGATCCTAGAGCAGAGCTCTGGAATCTGTATATTTGAAATTTTCCCTAAAGCTTCAGATGATCAGCCAAGCTTGGGAACCACTAGCTTTGGAGCTTCAAAGACCTAGATTTGAATCTTGGCTTTGCCCTCTTTACCGGCTGTGATCCTGGGCATATTCTTGACCTCTGAGCCTCACTTCTCACATCTAAAAATGGGAATAATATCAACTTTGAAGAGTGGTGAAGATTAGAAATACCATGTGCAGACTGTTAGGTAATACAGAGCGCCT... | TCTTAAAAATCCAGATTTCCCCCCTTCCATCCCAAGGTTCCTGAATAAGAATGATCCTAGAGCAGAGCTCTGGAATCTGTATATTTGAAATTTTCCCTAAAGCTTCAGATGATCAGCCAAGCTTGGGAACCACTAGCTTTGGAGCTTCAAAGACCTAGATTTGAATCTTGGCTTTGCCCTCTTTACCGGCTGTGATCCTGGGCATATTCTTGACCTCTGAGCCTCACTTCTCACATCTAAAAATGGGAATAATATCAACTTTGAAGAGTGGTGAAGATTAGAAATACCATGTGCAGACTGTTAGGTAATACAGAGCGCCT... |
Task1_train_22847 | Gene CDH3 (cadherin 3) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Retinal dystrophy | AACAAATACTTTGTAATGCCACTTCGACATTGTTAAATGATGTGAAATGAAGTTCATTTATAATATAACTAACCTAACTCATTATTTCTAAAAATAGAGAATGTCCTAACTAAAATAAAGAAAAAATCCAGACCGGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGGAGACCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG... | AACAAATACTTTGTAATGCCACTTCGACATTGTTAAATGATGTGAAATGAAGTTCATTTATAATATAACTAACCTAACTCATTATTTCTAAAAATAGAGAATGTCCTAACTAAAATAAAGAAAAAATCCAGACCGGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGGAGACCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG... |
Task1_train_22848 | This sequence change occurs on Chromosome 16, altering CDH1 (cadherin 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome | CCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGT... | CCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGT... |
Task1_train_22849 | Gene CDH1 (cadherin 1) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hereditary diffuse gastric adenocarcinoma | CCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGT... | CCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGT... |
Task1_train_22850 | This sequence variant lies in CDH1 (cadherin 1) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome | CTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTC... | CTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTC... |
Task1_train_22851 | Located on Chromosome 16, this mutation impacts CDH1 (cadherin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome | CTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTC... | CTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTC... |
Task1_train_22852 | This variant affects gene CDH1 (cadherin 1) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome | CTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTC... | CTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTC... |
Task1_train_22853 | Consider a variant on Chromosome 16 in gene CDH1 (cadherin 1). Determine its clinical classification and disease relevance. | Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome | TGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCG... | TGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCG... |
Task1_train_22854 | A mutation found in CDH1 (cadherin 1) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome | GGACACTAAGAAGGATAAAAAGAGAATGCAGTCTTTACGATATAGCAAAGGGTCTCATTGGTTTTTGTTTTGATTGGTCATTTTGGTGGATATATATAATTTGTCATTGATAAGAGAATGTGTCATTAAATTCAAACTGTACACTGCCCACAGAAGGCTGGGGACGCTGTCTGGCTAGGTTGGACTGTTAGACCTGAAGTATCCGTCTTGAATTGTCTTATCTTGTTCCTCATCTTCTTTCCTTTTAGGCCTCCGTTTCTGGAATCCAAGCAGAATTGCTCACATTTCCCAACTCCTCTCCTGGCCTCAGAAGACAGAAG... | GGACACTAAGAAGGATAAAAAGAGAATGCAGTCTTTACGATATAGCAAAGGGTCTCATTGGTTTTTGTTTTGATTGGTCATTTTGGTGGATATATATAATTTGTCATTGATAAGAGAATGTGTCATTAAATTCAAACTGTACACTGCCCACAGAAGGCTGGGGACGCTGTCTGGCTAGGTTGGACTGTTAGACCTGAAGTATCCGTCTTGAATTGTCTTATCTTGTTCCTCATCTTCTTTCCTTTTAGGCCTCCGTTTCTGGAATCCAAGCAGAATTGCTCACATTTCCCAACTCCTCTCCTGGCCTCAGAAGACAGAAG... |
Task1_train_22855 | Chromosome 16 houses a mutation in gene CDH1 (cadherin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Blepharocheilodontic syndrome 1 | CAAAGGGTCTCATTGGTTTTTGTTTTGATTGGTCATTTTGGTGGATATATATAATTTGTCATTGATAAGAGAATGTGTCATTAAATTCAAACTGTACACTGCCCACAGAAGGCTGGGGACGCTGTCTGGCTAGGTTGGACTGTTAGACCTGAAGTATCCGTCTTGAATTGTCTTATCTTGTTCCTCATCTTCTTTCCTTTTAGGCCTCCGTTTCTGGAATCCAAGCAGAATTGCTCACATTTCCCAACTCCTCTCCTGGCCTCAGAAGACAGAAGAGAGACTGGGTTATTCCTCCCATCAGCTGCCCAGAAAATGAAAAA... | CAAAGGGTCTCATTGGTTTTTGTTTTGATTGGTCATTTTGGTGGATATATATAATTTGTCATTGATAAGAGAATGTGTCATTAAATTCAAACTGTACACTGCCCACAGAAGGCTGGGGACGCTGTCTGGCTAGGTTGGACTGTTAGACCTGAAGTATCCGTCTTGAATTGTCTTATCTTGTTCCTCATCTTCTTTCCTTTTAGGCCTCCGTTTCTGGAATCCAAGCAGAATTGCTCACATTTCCCAACTCCTCTCCTGGCCTCAGAAGACAGAAGAGAGACTGGGTTATTCCTCCCATCAGCTGCCCAGAAAATGAAAAA... |
Task1_train_22856 | A variant affecting Chromosome 16, within the gene CDH1 (cadherin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Familial cancer of breast | CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTC... | CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTC... |
Task1_train_22857 | Given this context: Chromosome 16, gene CDH1 (cadherin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Blepharocheilodontic syndrome 1 | CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTC... | CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTC... |
Task1_train_22858 | Given this variant in gene CDH1 (cadherin 1) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary diffuse gastric adenocarcinoma | CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTC... | CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTC... |
Task1_train_22859 | This is a variant in CDH1 (cadherin 1), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Endometrial carcinoma | CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTC... | CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTC... |
Task1_train_22860 | Chromosome 16 houses a mutation in gene CDH1 (cadherin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Ovarian cancer | CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTC... | CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTC... |
Task1_train_22861 | A variant affecting Chromosome 16, within the gene CDH1 (cadherin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome | TGGGGGAGCTGGTCTGCAGGAGTCTGCTTTTAAAAATAAATAAGGATTATAGTAATCATTGCTTCAGCAAGAATCATCCACAGATGCCAAATCCATTGGGTGAAAATTAGTTGCTGAACAAGATATTCTCAAATTATCTACCTGCAGATTATAGGTTAATCATGCAGTGAAAAAAGGCACCTTTGCTGTGAAGAAATCTGGTGGCCTTTCCCTTATCCAAGTGATCAAAGTTATCAATAGAAGCACAGACAGACATCATGTGCCTCCCAGTGTCCTGCACTAGGGAGGCCACAGCATCACCTCTGTCCTGTTCTTGCCCC... | TGGGGGAGCTGGTCTGCAGGAGTCTGCTTTTAAAAATAAATAAGGATTATAGTAATCATTGCTTCAGCAAGAATCATCCACAGATGCCAAATCCATTGGGTGAAAATTAGTTGCTGAACAAGATATTCTCAAATTATCTACCTGCAGATTATAGGTTAATCATGCAGTGAAAAAAGGCACCTTTGCTGTGAAGAAATCTGGTGGCCTTTCCCTTATCCAAGTGATCAAAGTTATCAATAGAAGCACAGACAGACATCATGTGCCTCCCAGTGTCCTGCACTAGGGAGGCCACAGCATCACCTCTGTCCTGTTCTTGCCCC... |
Task1_train_22862 | Gene VPS4A (vacuolar protein sorting 4 homolog A) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Syndromic congenital hemolytic and dyserythropoietic anemia | CCCGTCTCTATTAAAAATACAAAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAATATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGAGCCACTACACTCCAGCCTGGGCGACTGAGTGCGACTCTGTCTTAAAAAAAAAA... | CCCGTCTCTATTAAAAATACAAAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAATATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGAGCCACTACACTCCAGCCTGGGCGACTGAGTGCGACTCTGTCTTAAAAAAAAAA... |
Task1_train_22863 | The gene VPS4A (vacuolar protein sorting 4 homolog A), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | TATTAAAAATACAAAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAATATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGAGCCACTACACTCCAGCCTGGGCGACTGAGTGCGACTCTGTCTTAAAAAAAAAATTAGCCAG... | TATTAAAAATACAAAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAATATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGAGCCACTACACTCCAGCCTGGGCGACTGAGTGCGACTCTGTCTTAAAAAAAAAATTAGCCAG... |
Task1_train_22864 | Consider a variant on Chromosome 16 in gene VPS4A (vacuolar protein sorting 4 homolog A). Determine its clinical classification and disease relevance. | Pathogenic; not provided | CTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCC... | CTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCC... |
Task1_train_22865 | A variant on Chromosome 16 in gene VPS4A (vacuolar protein sorting 4 homolog A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Syndromic congenital hemolytic and dyserythropoietic anemia | CTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCC... | CTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCC... |
Task1_train_22866 | A variant has been detected on Chromosome 16 in COG8 (component of oligomeric golgi complex 8). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; COG8-congenital disorder of glycosylation | CGTTTGTGAACGTCCTGCTGTCCATTTTGTCAATAAACAGGCAGCCCTGCAGGTGGTCCATCTCGTGCTGGATGATGCGGGCTGCCCACCCGCTCGCCTGCCACACCACCTGTTCTCCATTGGGGTCCAGCCCTGCAAAGGAAGTTACAGCCCTGGTGAGTGGGAACAGCTGAACTGCATCATCCTCAACCTCCCTACCCCTGCCCCCGGTCCTGGCTGTTCCCATTGACAAGAGGCAACAGCAGATGGCAAATGTAGACAGCAGCTCCTCTTCTAACTGGAAAACGTCCCTCATCTCGGTCCATTACCAAGCGTTCAAC... | CGTTTGTGAACGTCCTGCTGTCCATTTTGTCAATAAACAGGCAGCCCTGCAGGTGGTCCATCTCGTGCTGGATGATGCGGGCTGCCCACCCGCTCGCCTGCCACACCACCTGTTCTCCATTGGGGTCCAGCCCTGCAAAGGAAGTTACAGCCCTGGTGAGTGGGAACAGCTGAACTGCATCATCCTCAACCTCCCTACCCCTGCCCCCGGTCCTGGCTGTTCCCATTGACAAGAGGCAACAGCAGATGGCAAATGTAGACAGCAGCTCCTCTTCTAACTGGAAAACGTCCCTCATCTCGGTCCATTACCAAGCGTTCAAC... |
Task1_train_22867 | This genomic variant is located on Chromosome 16, within the AARS1 (alanyl-tRNA synthetase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Trichothiodystrophy 8, nonphotosensitive | TGATTCAGCACAGGCATGAGCGCCACGGTGAGGCCGGCGGCGGCGCGCTCTTCCTCGAGCCGCGTGGGGTCCAGGAGCCAGGTGGGCGCGGGCCCCGGCGCGAGGCTGAGGCCGCAGCCCACCACCAGGTCGTACATCTCCACGCCCGCGTCGGCCAGGGCGAGCGCGGCGGCGGTGAGCGCGGCGGCCAGGGCCGAGCCACCGTCCTCCAGCAGCAGCGCCGACACCTCGAGCTGCGCGCGCGGGTAGCGGCCCAGGCGCACAGCCGGCTCCAGCGCCTCCTGCAGCGCCAGCGCCAGCTCACGCTCCTCGCAGCCGCC... | TGATTCAGCACAGGCATGAGCGCCACGGTGAGGCCGGCGGCGGCGCGCTCTTCCTCGAGCCGCGTGGGGTCCAGGAGCCAGGTGGGCGCGGGCCCCGGCGCGAGGCTGAGGCCGCAGCCCACCACCAGGTCGTACATCTCCACGCCCGCGTCGGCCAGGGCGAGCGCGGCGGCGGTGAGCGCGGCGGCCAGGGCCGAGCCACCGTCCTCCAGCAGCAGCGCCGACACCTCGAGCTGCGCGCGCGGGTAGCGGCCCAGGCGCACAGCCGGCTCCAGCGCCTCCTGCAGCGCCAGCGCCAGCTCACGCTCCTCGCAGCCGCC... |
Task1_train_22868 | This variant impacts the gene AARS1 (alanyl-tRNA synthetase 1) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2N | GATGAACTGCTTCGTCTTCTCTAACACCTGCAAGAAAAAAGTCCAGAACAGCAGCTCAGACCAAAAGCCCAGGCCCCGAACCCCTGGCTGTTCTGCCAGCCTTTGCCTAGGAAACACTCTGGCCACTGGTGCTGCCAGGACTCACTCGTTTCTGGACATCGGCTTTGCTGGCTCGGTCCAAGTCATCCATGACCTTCTTTAGGGATTTGAGAGTCTCCCGCAATTCATCCTTCTGCCACTGGGGGATGACTGCAGTGGCCAGGGCCTGGAACCAATAGACGACCATCTCAATCTGGGCCACAACTTGCTGGGATGTCAGG... | GATGAACTGCTTCGTCTTCTCTAACACCTGCAAGAAAAAAGTCCAGAACAGCAGCTCAGACCAAAAGCCCAGGCCCCGAACCCCTGGCTGTTCTGCCAGCCTTTGCCTAGGAAACACTCTGGCCACTGGTGCTGCCAGGACTCACTCGTTTCTGGACATCGGCTTTGCTGGCTCGGTCCAAGTCATCCATGACCTTCTTTAGGGATTTGAGAGTCTCCCGCAATTCATCCTTCTGCCACTGGGGGATGACTGCAGTGGCCAGGGCCTGGAACCAATAGACGACCATCTCAATCTGGGCCACAACTTGCTGGGATGTCAGG... |
Task1_train_22869 | Given this context: Chromosome 16, gene AARS1 (alanyl-tRNA synthetase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Charcot-Marie-Tooth disease type 2 | GCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAATAAAAAATAAAAAAAAATAAATAAAAAAATTGCCAGGCGCGGTGGCGGACACCTGTAGTCCCAGCTACTAGAGAGGCTGAGGCAGGAGAATGGCATGACCCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAACAAAAACAACCTCACCTGGACAATTTTCTATTTCTTTTTTTTTGAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTACTGGTGTGATCTCGGCTCATTGCACTC... | GCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAATAAAAAATAAAAAAAAATAAATAAAAAAATTGCCAGGCGCGGTGGCGGACACCTGTAGTCCCAGCTACTAGAGAGGCTGAGGCAGGAGAATGGCATGACCCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAACAAAAACAACCTCACCTGGACAATTTTCTATTTCTTTTTTTTTGAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTACTGGTGTGATCTCGGCTCATTGCACTC... |
Task1_train_22870 | Located on Chromosome 16, this mutation impacts AARS1 (alanyl-tRNA synthetase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2N | AATAAAAAATAAAAAAAAATAAATAAAAAAATTGCCAGGCGCGGTGGCGGACACCTGTAGTCCCAGCTACTAGAGAGGCTGAGGCAGGAGAATGGCATGACCCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAACAAAAACAACCTCACCTGGACAATTTTCTATTTCTTTTTTTTTGAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTACTGGTGTGATCTCGGCTCATTGCACTCTCCAGCTCCAGGATTCAAGCGATTCTCCTGCT... | AATAAAAAATAAAAAAAAATAAATAAAAAAATTGCCAGGCGCGGTGGCGGACACCTGTAGTCCCAGCTACTAGAGAGGCTGAGGCAGGAGAATGGCATGACCCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAACAAAAACAACCTCACCTGGACAATTTTCTATTTCTTTTTTTTTGAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTACTGGTGTGATCTCGGCTCATTGCACTCTCCAGCTCCAGGATTCAAGCGATTCTCCTGCT... |
Task1_train_22871 | The gene AARS1 (alanyl-tRNA synthetase 1) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 29 | TGGCTTTCAACAACAGAATGATTGGCTGGGCACAGTGGCTCACATCTGTAATCCTAGCACTTTGGGAGGCCAAAGCGGGTGGATCACCTGAAGTCAGGAGTTTGAGACTAGCCTGGCTAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCGCCTTAACCCGGGAGGCAGAGGTTACAGTGAGCCAAGATCGCACCAGTGCACTCCAGCCTAGGTGACAGACTGAGACTCTGTCTCAAAAACAAACAAACA... | TGGCTTTCAACAACAGAATGATTGGCTGGGCACAGTGGCTCACATCTGTAATCCTAGCACTTTGGGAGGCCAAAGCGGGTGGATCACCTGAAGTCAGGAGTTTGAGACTAGCCTGGCTAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCGCCTTAACCCGGGAGGCAGAGGTTACAGTGAGCCAAGATCGCACCAGTGCACTCCAGCCTAGGTGACAGACTGAGACTCTGTCTCAAAAACAAACAAACA... |
Task1_train_22872 | A variant on Chromosome 16 in gene FCSK (fucose kinase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | TTAATTTTTTTTTATTTTTGAGATGGAGTCTAGCTCTGTCACCCAGATTGGAGTGCAGTGGTGCGATCTCAGCCCACTGCAACCTCTACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTCGTCTTGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCATGCCCGGACTAGTTTTGTTATTTTTATGC... | TTAATTTTTTTTTATTTTTGAGATGGAGTCTAGCTCTGTCACCCAGATTGGAGTGCAGTGGTGCGATCTCAGCCCACTGCAACCTCTACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTCGTCTTGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCATGCCCGGACTAGTTTTGTTATTTTTATGC... |
Task1_train_22873 | This variant affects the gene COG4 (component of oligomeric golgi complex 4) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; COG4-congenital disorder of glycosylation | TCAGGCAGTCCTGGGAAGTGGGTTACTCCTGGCTCCAGCCGGCACTGGAATCCGGCTTCTTTACCATGACACTGGCTCAGCAGCACGTCTTGGCACTTCATGCAATCTCCAGATGGGTGCTGAGTATCTTGGCCCAGGCACGTCACTCCCCTCTGCCCCACCTCAGGAAGCCTGCCTCTGCTGGGCCAGTGCCTGACCTCGTACTGGGAGCAGAAGAAGCTCATGGCTCCAGGCTGTGAGCCCCTGACTGTGCGGCGTATGATGGATGTCCTGGCCCCCCACGTGCATGGCCAGAGCCTGGCTGGGGCAGGCGGTGGAGG... | TCAGGCAGTCCTGGGAAGTGGGTTACTCCTGGCTCCAGCCGGCACTGGAATCCGGCTTCTTTACCATGACACTGGCTCAGCAGCACGTCTTGGCACTTCATGCAATCTCCAGATGGGTGCTGAGTATCTTGGCCCAGGCACGTCACTCCCCTCTGCCCCACCTCAGGAAGCCTGCCTCTGCTGGGCCAGTGCCTGACCTCGTACTGGGAGCAGAAGAAGCTCATGGCTCCAGGCTGTGAGCCCCTGACTGTGCGGCGTATGATGGATGTCCTGGCCCCCCACGTGCATGGCCAGAGCCTGGCTGGGGCAGGCGGTGGAGG... |
Task1_train_22874 | With a mutation on Chromosome 16 in gene COG4 (component of oligomeric golgi complex 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Microcephalic osteodysplastic dysplasia, Saul-Wilson type | AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGT... | AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGT... |
Task1_train_22875 | Here is a genetic alteration in COG4 (component of oligomeric golgi complex 4) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Microcephalic osteodysplastic dysplasia, Saul-Wilson type | AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGT... | AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGT... |
Task1_train_22876 | A variant was discovered in gene COG4 (component of oligomeric golgi complex 4), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Inborn genetic diseases | AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGT... | AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGT... |
Task1_train_22877 | This variant lies on Chromosome 16 and affects the gene COG4 (component of oligomeric golgi complex 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; COG4-congenital disorder of glycosylation | AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGT... | AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGT... |
Task1_train_22878 | A mutation found in VAC14 (VAC14 component of PIKFYVE complex) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Striatonigral degeneration, childhood-onset | GGCTGAAGCCTGCAGGCTCACCCAGCCATCCACCCATATTCCCAGCTCCAGGCCTTCTCCCCCACCCCCACACCAGGCCCAGGAGGAACTACAATGAGCAGAGGGCAGCCACCTTCTCCCAGGGGCAGGAGCTGGGGTTCTCTCCCACCCCAGCAAGATGGTCCAGCATCACCCGCTGGCACCTGCCGGGCTGGGCCTACTCAGTCCCAATCCCAACCCACAGGGTTTCTCCCGGGCCAGCTCCCCCTCCAAGAGCCCCTCTTTGCTGCCAATCTCGCTCTCCCAAATACGTCCCTCCCCTCCCAGTGTCCTGGCAGCCC... | GGCTGAAGCCTGCAGGCTCACCCAGCCATCCACCCATATTCCCAGCTCCAGGCCTTCTCCCCCACCCCCACACCAGGCCCAGGAGGAACTACAATGAGCAGAGGGCAGCCACCTTCTCCCAGGGGCAGGAGCTGGGGTTCTCTCCCACCCCAGCAAGATGGTCCAGCATCACCCGCTGGCACCTGCCGGGCTGGGCCTACTCAGTCCCAATCCCAACCCACAGGGTTTCTCCCGGGCCAGCTCCCCCTCCAAGAGCCCCTCTTTGCTGCCAATCTCGCTCTCCCAAATACGTCCCTCCCCTCCCAGTGTCCTGGCAGCCC... |
Task1_train_22879 | Chromosome 16 houses a mutation in gene VAC14 (VAC14 component of PIKFYVE complex). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Striatonigral degeneration, childhood-onset | GAAGCCTGCAGGCTCACCCAGCCATCCACCCATATTCCCAGCTCCAGGCCTTCTCCCCCACCCCCACACCAGGCCCAGGAGGAACTACAATGAGCAGAGGGCAGCCACCTTCTCCCAGGGGCAGGAGCTGGGGTTCTCTCCCACCCCAGCAAGATGGTCCAGCATCACCCGCTGGCACCTGCCGGGCTGGGCCTACTCAGTCCCAATCCCAACCCACAGGGTTTCTCCCGGGCCAGCTCCCCCTCCAAGAGCCCCTCTTTGCTGCCAATCTCGCTCTCCCAAATACGTCCCTCCCCTCCCAGTGTCCTGGCAGCCCTGAT... | GAAGCCTGCAGGCTCACCCAGCCATCCACCCATATTCCCAGCTCCAGGCCTTCTCCCCCACCCCCACACCAGGCCCAGGAGGAACTACAATGAGCAGAGGGCAGCCACCTTCTCCCAGGGGCAGGAGCTGGGGTTCTCTCCCACCCCAGCAAGATGGTCCAGCATCACCCGCTGGCACCTGCCGGGCTGGGCCTACTCAGTCCCAATCCCAACCCACAGGGTTTCTCCCGGGCCAGCTCCCCCTCCAAGAGCCCCTCTTTGCTGCCAATCTCGCTCTCCCAAATACGTCCCTCCCCTCCCAGTGTCCTGGCAGCCCTGAT... |
Task1_train_22880 | The gene VAC14, VAC14-AS1 (VAC14 component of PIKFYVE complex| VAC14 antisense RNA 1) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Striatonigral degeneration, childhood-onset | GCTGTGACTGTGCAGTGAGTCACTCCCAACTCGCAGGCAGAACGGGGCCAAGTCCACCTGGGCCTCGCGCTGCAGGGGGTGGTGCACGAAGAGAGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGGGGGGGCGGGGGGTAGGCAGGAGAGGCCAAGGGCATACTCACAGACCATCTGTTTTGGATTTTTCTGGTAATACAGAAAACCTCAGAGGACCTAGAGGTTGATACCTGCCTGTCCATTTCTCTCTTCAGCCCAGGTTCGGGAAAGCAAATTCAGGCTGCAGGA... | GCTGTGACTGTGCAGTGAGTCACTCCCAACTCGCAGGCAGAACGGGGCCAAGTCCACCTGGGCCTCGCGCTGCAGGGGGTGGTGCACGAAGAGAGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGGGGGGGCGGGGGGTAGGCAGGAGAGGCCAAGGGCATACTCACAGACCATCTGTTTTGGATTTTTCTGGTAATACAGAAAACCTCAGAGGACCTAGAGGTTGATACCTGCCTGTCCATTTCTCTCTTCAGCCCAGGTTCGGGAAAGCAAATTCAGGCTGCAGGA... |
Task1_train_22881 | A mutation found in HYDIN, LOC121587554 (HYDIN axonemal central pair apparatus protein| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:71020999-71022198) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Primary ciliary dyskinesia 5 | CCCTAGAACTTAAAGTATAATAAAAAGAATTAAAATAAATAAATTAAAAAAAAAAAGATTTGCCTTCTGGATTCTGTCCTGTAAGAAAAACAAAAGATTTGAGTTTAGAATGTTCTAGAATGAACTTTTCCATTCAAATGGAGAACCATGGGTGTAACAGGCCAGTCATGTTCTTTTTCCTGGAATTTTGCTAACATAATTCACCAGCTGGGTTAGCAGGCCCAATAACCACAAACAGGCCACTTTGGGGGTCCTTAGGAAAAGCTAGGGTGAGGTCTGACTGCTTCAAAGACTATACTCAGACATGAGCCGAAACCAAG... | CCCTAGAACTTAAAGTATAATAAAAAGAATTAAAATAAATAAATTAAAAAAAAAAAGATTTGCCTTCTGGATTCTGTCCTGTAAGAAAAACAAAAGATTTGAGTTTAGAATGTTCTAGAATGAACTTTTCCATTCAAATGGAGAACCATGGGTGTAACAGGCCAGTCATGTTCTTTTTCCTGGAATTTTGCTAACATAATTCACCAGCTGGGTTAGCAGGCCCAATAACCACAAACAGGCCACTTTGGGGGTCCTTAGGAAAAGCTAGGGTGAGGTCTGACTGCTTCAAAGACTATACTCAGACATGAGCCGAAACCAAG... |
Task1_train_22882 | This is a variant in TAT, TAT-AS1 (tyrosine aminotransferase| TAT antisense RNA 1), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Tyrosinemia type II | AGCCAGAAGTTGAGCTCCCAAATAAAATGTTTTAGGAACTGTGGTTCTTAAGTAACTCCAAAAGTCAGTACATTTACAAAGAAGTAAATGAAACCTCATAGGTAATGAAACAATGAGACTGAGGAGTGCCTGGGATTAGAAATTCCCAAACGGAGAAAAAAACACATCACAGAAGAGCCATACTTGGTGAAATTTATTAAAAAAAAAAAAAGAAAAACAATAATTTATGCCCTTGGCAAAATAAAAGATCTTATCAATATAAATGTTTCTTAGAAAATGTATGAAAAGATAATATATATTAATAAATCAATATTAACATT... | AGCCAGAAGTTGAGCTCCCAAATAAAATGTTTTAGGAACTGTGGTTCTTAAGTAACTCCAAAAGTCAGTACATTTACAAAGAAGTAAATGAAACCTCATAGGTAATGAAACAATGAGACTGAGGAGTGCCTGGGATTAGAAATTCCCAAACGGAGAAAAAAACACATCACAGAAGAGCCATACTTGGTGAAATTTATTAAAAAAAAAAAAAGAAAAACAATAATTTATGCCCTTGGCAAAATAAAAGATCTTATCAATATAAATGTTTCTTAGAAAATGTATGAAAAGATAATATATATTAATAAATCAATATTAACATT... |
Task1_train_22883 | This sequence variant lies in TAT-AS1, TAT, TAT, TAT-AS1 (TAT antisense RNA 1| tyrosine aminotransferase| tyrosine aminotransferase| TAT antisense RNA 1) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Tyrosinemia type II | ACTTTGTTCACCTGGTACTTTCAAGAAAAAAAGAAGGAAATCTTACGAGAGGGAGGCAGATTAATGAATTAGTGAGTCACTCTAGCAGCGCAGAGCAAGGGAGAATCTGCGATGTGAATGAGGAGGATCTGAGTGTGGGTGTGGTTGTACTTGGGGAAAAGCAGGAACAATCTTGAACCCTTGACATGGTGCATTTGAGGCCCCTCTCCCAGTAGGGCCACCTGAGTCCCTGAGGAGCCGCAAGGCCTAGTCCAGCCTTCCCTAGATGGGACACATCCTCAGGAGAATGGATGCAGGCCTATTTATCACACTCCTCCTGG... | ACTTTGTTCACCTGGTACTTTCAAGAAAAAAAGAAGGAAATCTTACGAGAGGGAGGCAGATTAATGAATTAGTGAGTCACTCTAGCAGCGCAGAGCAAGGGAGAATCTGCGATGTGAATGAGGAGGATCTGAGTGTGGGTGTGGTTGTACTTGGGGAAAAGCAGGAACAATCTTGAACCCTTGACATGGTGCATTTGAGGCCCCTCTCCCAGTAGGGCCACCTGAGTCCCTGAGGAGCCGCAAGGCCTAGTCCAGCCTTCCCTAGATGGGACACATCCTCAGGAGAATGGATGCAGGCCTATTTATCACACTCCTCCTGG... |
Task1_train_22884 | A mutation found in AP1G1 (adaptor related protein complex 1 subunit gamma 1) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | TGGTGGGTGCCTGTAGTTCAGCTACTCTGGGAGGTTGAGGTAGGAGGATTGCCTGAGCCTAGGAGGTTGAGGCTACAGTGAGAAAGAAGAGAGAGAAAAGAAAGAGAAGAAACAGAAGAAAGAAAAGAAAGGGAAGAAAGAGAAGAGAAGAAAGAAAAGAAAGAAGGAAAGAAGATGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAACAAAAAAGAGAGAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGGAAGGAAAGGAAAAGAAAGGAAAAGAAAAGAGAAGAAAATCCTGTCCTACAGTCTTTTCTAGG... | TGGTGGGTGCCTGTAGTTCAGCTACTCTGGGAGGTTGAGGTAGGAGGATTGCCTGAGCCTAGGAGGTTGAGGCTACAGTGAGAAAGAAGAGAGAGAAAAGAAAGAGAAGAAACAGAAGAAAGAAAAGAAAGGGAAGAAAGAGAAGAGAAGAAAGAAAAGAAAGAAGGAAAGAAGATGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAACAAAAAAGAGAGAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGGAAGGAAAGGAAAAGAAAGGAAAAGAAAAGAGAAGAAAATCCTGTCCTACAGTCTTTTCTAGG... |
Task1_train_22885 | Gene AP1G1 (adaptor related protein complex 1 subunit gamma 1) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Usmani-Riazuddin syndrome, autosomal recessive | CAAGATGAGTGTACTAACTGAACTGTTCACTTAAAAATGCTTAAAATGGTTAATTTTATGTTATATATATTTTATCACAATTAAGAAAAAAAGAACATGACTTATCTCTATGCATGAATTTGGAAGTGGCTCCAAGATAATGTTAGGTGAACAAAGTATGGTGCGAACAATATATATGGTATGTTACCATTCTGTCTGAAAGGTGGGGAGAGGAAAAGAACTTAACCTAAGTTACTTTGGTTATCTAACTAGATACTATAATGCTACCGACAAAAAGAACTGTACACAAATATTATACTCTAGTAAATTTGCTTTTTACA... | CAAGATGAGTGTACTAACTGAACTGTTCACTTAAAAATGCTTAAAATGGTTAATTTTATGTTATATATATTTTATCACAATTAAGAAAAAAAGAACATGACTTATCTCTATGCATGAATTTGGAAGTGGCTCCAAGATAATGTTAGGTGAACAAAGTATGGTGCGAACAATATATATGGTATGTTACCATTCTGTCTGAAAGGTGGGGAGAGGAAAAGAACTTAACCTAAGTTACTTTGGTTATCTAACTAGATACTATAATGCTACCGACAAAAAGAACTGTACACAAATATTATACTCTAGTAAATTTGCTTTTTACA... |
Task1_train_22886 | A variant found in Chromosome 16 affects AP1G1 (adaptor related protein complex 1 subunit gamma 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Usmani-Riazuddin syndrome, autosomal dominant | AAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGCCATGCACCTGCAGTCCCAGTGACTCGAGAGGCTGAGGTAGGAGAACTTGAGCCCAGTAGGTTGAGGTGACAGTGAGCCATCACAGAGCCACAGCATGGGCCATAGAGCAAGACCCTGCCTCTAAAAACAACAAAAAAAGAATATGCTCTTAAAGAACTTCCTTGGGAATATGTAAATGTACTGCTTCCAAAATGTTAATAATGCTTATCGCTGAGGAATTAAGAGTCTTCTCCCTCACTAGACTTTTTTATAGCCCAATTTCTAATATATCAGATTTCTGTAAATC... | AAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGCCATGCACCTGCAGTCCCAGTGACTCGAGAGGCTGAGGTAGGAGAACTTGAGCCCAGTAGGTTGAGGTGACAGTGAGCCATCACAGAGCCACAGCATGGGCCATAGAGCAAGACCCTGCCTCTAAAAACAACAAAAAAAGAATATGCTCTTAAAGAACTTCCTTGGGAATATGTAAATGTACTGCTTCCAAAATGTTAATAATGCTTATCGCTGAGGAATTAAGAGTCTTCTCCCTCACTAGACTTTTTTATAGCCCAATTTCTAATATATCAGATTTCTGTAAATC... |
Task1_train_22887 | The gene AP1G1 (adaptor related protein complex 1 subunit gamma 1) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Usmani-Riazuddin syndrome, autosomal dominant | AAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGCCATGCACCTGCAGTCCCAGTGACTCGAGAGGCTGAGGTAGGAGAACTTGAGCCCAGTAGGTTGAGGTGACAGTGAGCCATCACAGAGCCACAGCATGGGCCATAGAGCAAGACCCTGCCTCTAAAAACAACAAAAAAAGAATATGCTCTTAAAGAACTTCCTTGGGAATATGTAAATGTACTGCTTCCAAAATGTTAATAATGCTTATCGCTGAGGAATTAAGAGTCTTCTCCCTCACTAGACTTTTTTATAGCCCAATTTCTAATATATCAGATTTCTGTAAATCT... | AAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGCCATGCACCTGCAGTCCCAGTGACTCGAGAGGCTGAGGTAGGAGAACTTGAGCCCAGTAGGTTGAGGTGACAGTGAGCCATCACAGAGCCACAGCATGGGCCATAGAGCAAGACCCTGCCTCTAAAAACAACAAAAAAAGAATATGCTCTTAAAGAACTTCCTTGGGAATATGTAAATGTACTGCTTCCAAAATGTTAATAATGCTTATCGCTGAGGAATTAAGAGTCTTCTCCCTCACTAGACTTTTTTATAGCCCAATTTCTAATATATCAGATTTCTGTAAATCT... |
Task1_train_22888 | A genomic change on Chromosome 16 affects DHODH (dihydroorotate dehydrogenase (quinone)). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Miller syndrome | ACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAATTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCTGCGCCCGGCTTCTAATTGGGTTCTGATCCCCTCCTCCAGTCCCCACCCTGGAAAGTAGCTACACTCATCTCATTTGCTGATGATGCGAGAGTGTGATTGGGGTTGGGAAGGTGGTGAGCAGTACAATAGATGTTGTTTGATCCTCTCTGGCCTGACAACACATTTTGTGAGCTACTTGGTGTTCTAATTCTTCCCCCAACTCTCAGATCAAAAGTACAGCCTGTACC... | ACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAATTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCTGCGCCCGGCTTCTAATTGGGTTCTGATCCCCTCCTCCAGTCCCCACCCTGGAAAGTAGCTACACTCATCTCATTTGCTGATGATGCGAGAGTGTGATTGGGGTTGGGAAGGTGGTGAGCAGTACAATAGATGTTGTTTGATCCTCTCTGGCCTGACAACACATTTTGTGAGCTACTTGGTGTTCTAATTCTTCCCCCAACTCTCAGATCAAAAGTACAGCCTGTACC... |
Task1_train_22889 | This sequence variant lies in DHODH (dihydroorotate dehydrogenase (quinone)) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Miller syndrome | CCAGGCTGGTCTTGAACTCCTGACCTCAATTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCTGCGCCCGGCTTCTAATTGGGTTCTGATCCCCTCCTCCAGTCCCCACCCTGGAAAGTAGCTACACTCATCTCATTTGCTGATGATGCGAGAGTGTGATTGGGGTTGGGAAGGTGGTGAGCAGTACAATAGATGTTGTTTGATCCTCTCTGGCCTGACAACACATTTTGTGAGCTACTTGGTGTTCTAATTCTTCCCCCAACTCTCAGATCAAAAGTACAGCCTGTACCATTGATGTAC... | CCAGGCTGGTCTTGAACTCCTGACCTCAATTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCTGCGCCCGGCTTCTAATTGGGTTCTGATCCCCTCCTCCAGTCCCCACCCTGGAAAGTAGCTACACTCATCTCATTTGCTGATGATGCGAGAGTGTGATTGGGGTTGGGAAGGTGGTGAGCAGTACAATAGATGTTGTTTGATCCTCTCTGGCCTGACAACACATTTTGTGAGCTACTTGGTGTTCTAATTCTTCCCCCAACTCTCAGATCAAAAGTACAGCCTGTACCATTGATGTAC... |
Task1_train_22890 | This variant lies on Chromosome 16 and affects the gene DHODH (dihydroorotate dehydrogenase (quinone)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Miller syndrome | CCAGGCTGGTCTTGAACTCCTGACCTCAATTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCTGCGCCCGGCTTCTAATTGGGTTCTGATCCCCTCCTCCAGTCCCCACCCTGGAAAGTAGCTACACTCATCTCATTTGCTGATGATGCGAGAGTGTGATTGGGGTTGGGAAGGTGGTGAGCAGTACAATAGATGTTGTTTGATCCTCTCTGGCCTGACAACACATTTTGTGAGCTACTTGGTGTTCTAATTCTTCCCCCAACTCTCAGATCAAAAGTACAGCCTGTACCATTGATGTAC... | CCAGGCTGGTCTTGAACTCCTGACCTCAATTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCTGCGCCCGGCTTCTAATTGGGTTCTGATCCCCTCCTCCAGTCCCCACCCTGGAAAGTAGCTACACTCATCTCATTTGCTGATGATGCGAGAGTGTGATTGGGGTTGGGAAGGTGGTGAGCAGTACAATAGATGTTGTTTGATCCTCTCTGGCCTGACAACACATTTTGTGAGCTACTTGGTGTTCTAATTCTTCCCCCAACTCTCAGATCAAAAGTACAGCCTGTACCATTGATGTAC... |
Task1_train_22891 | Here is a mutation in DHODH (dihydroorotate dehydrogenase (quinone)) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Miller syndrome | TATATATATATATATATGTGTATATATATATATATTTTTTTTTTTTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGCTCCTTAGGCTGGAGTGCAGTGGCGCGATCACGGTTCATTGGAGCCTCAATCCTACTTCAGCCTCCCGAGCAGCTAGGACTACAGGTGTGCACCACTGCTCCCGGCTGAGTTTTCAATTATAGAGATAGGGTTTCACCATGTTGCCCAGACTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCTGCCCTTGACCACCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTGTTTT... | TATATATATATATATATGTGTATATATATATATATTTTTTTTTTTTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGCTCCTTAGGCTGGAGTGCAGTGGCGCGATCACGGTTCATTGGAGCCTCAATCCTACTTCAGCCTCCCGAGCAGCTAGGACTACAGGTGTGCACCACTGCTCCCGGCTGAGTTTTCAATTATAGAGATAGGGTTTCACCATGTTGCCCAGACTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCTGCCCTTGACCACCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTGTTTT... |
Task1_train_22892 | This variant affects gene RFWD3 (ring finger and WD repeat domain 3) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Fanconi anemia, complementation group W | TGTATGTACAGGCTGGCAGGAGCAGATTGGATTTCCAGTGTCATCCAGTCGGTAGGACATTTCCATCAGCACACTTCGTATGGTGGTGTGATTTTTATCTATGGGACAGAGAAATCAGTGCTGCACCATGGGGACGCTACACAAAAAATTAACCAAGTACCCAAACCTCACACGCTTACAACCTAGTTGGATGGAAAAGCCATAAATGCATTAAACCATCAAGAACAGTTACAAAACAAATGAAAGAACAATATCACAGCATCAATGAAATTTAGAACCGTAGGCTAGCATCAGTGAAATTTAGAACCATAGGCTAGGAA... | TGTATGTACAGGCTGGCAGGAGCAGATTGGATTTCCAGTGTCATCCAGTCGGTAGGACATTTCCATCAGCACACTTCGTATGGTGGTGTGATTTTTATCTATGGGACAGAGAAATCAGTGCTGCACCATGGGGACGCTACACAAAAAATTAACCAAGTACCCAAACCTCACACGCTTACAACCTAGTTGGATGGAAAAGCCATAAATGCATTAAACCATCAAGAACAGTTACAAAACAAATGAAAGAACAATATCACAGCATCAATGAAATTTAGAACCGTAGGCTAGCATCAGTGAAATTTAGAACCATAGGCTAGGAA... |
Task1_train_22893 | Consider this mutation in MLKL (mixed lineage kinase domain like pseudokinase) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Maturity onset diabetes mellitus in young | TTCTCCTGCCTCAGCCTTACGAGTAGCTGGGACTATAGGTGCGTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACGAGGTTTCACCGTGTTGGGCAGGATGCTCTTGATCTCTTTACCTTGTGATCTGTCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGACGTGAGCTACTGCGCCCAGCCTTGGTGTTGGGTATCCTTAACTCTGCCAATATCTCCAATATCTCCATTGTACAAAGAGAATGTGGGTTGGATCACAGAGCTTCTGGCAGGCAGCCTCATCCAGCCAGAATTTAATTACATTGTTTTG... | TTCTCCTGCCTCAGCCTTACGAGTAGCTGGGACTATAGGTGCGTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACGAGGTTTCACCGTGTTGGGCAGGATGCTCTTGATCTCTTTACCTTGTGATCTGTCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGACGTGAGCTACTGCGCCCAGCCTTGGTGTTGGGTATCCTTAACTCTGCCAATATCTCCAATATCTCCATTGTACAAAGAGAATGTGGGTTGGATCACAGAGCTTCTGGCAGGCAGCCTCATCCAGCCAGAATTTAATTACATTGTTTTG... |
Task1_train_22894 | Assess the clinical impact of this variant on gene FA2H (fatty acid 2-hydroxylase), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 35 | GTCAATATCTGTCCCCTTGGCCTTCCCAACTCCCGAGGCCATTCTGGCAGAAGTCAAGGGTGGGGAACCTGTGTCTTTTATTGTCCCCAGCATGAAGCTGGAATAAACCCTAATTCCTTATCTGGCCTTCGTTTCTAGGCTACGTGGCCCCCTCCCACCCCCCACCTCCATCTCCTTCCCCTTCCTTGGGGCCCAAGTTCATTCCTGCCTCAGGGCTTTGCACCAGTCGCTCTTGGGACGCCAGATGCTGATTTCTCTTCATTAGGGTCTTAGCTCTAATGGCACCTCTGCAATGACACCTGGACCATTTAATCTCTTTG... | GTCAATATCTGTCCCCTTGGCCTTCCCAACTCCCGAGGCCATTCTGGCAGAAGTCAAGGGTGGGGAACCTGTGTCTTTTATTGTCCCCAGCATGAAGCTGGAATAAACCCTAATTCCTTATCTGGCCTTCGTTTCTAGGCTACGTGGCCCCCTCCCACCCCCCACCTCCATCTCCTTCCCCTTCCTTGGGGCCCAAGTTCATTCCTGCCTCAGGGCTTTGCACCAGTCGCTCTTGGGACGCCAGATGCTGATTTCTCTTCATTAGGGTCTTAGCTCTAATGGCACCTCTGCAATGACACCTGGACCATTTAATCTCTTTG... |
Task1_train_22895 | This alteration occurs within gene FA2H (fatty acid 2-hydroxylase) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Spastic paraplegia | GTCAATATCTGTCCCCTTGGCCTTCCCAACTCCCGAGGCCATTCTGGCAGAAGTCAAGGGTGGGGAACCTGTGTCTTTTATTGTCCCCAGCATGAAGCTGGAATAAACCCTAATTCCTTATCTGGCCTTCGTTTCTAGGCTACGTGGCCCCCTCCCACCCCCCACCTCCATCTCCTTCCCCTTCCTTGGGGCCCAAGTTCATTCCTGCCTCAGGGCTTTGCACCAGTCGCTCTTGGGACGCCAGATGCTGATTTCTCTTCATTAGGGTCTTAGCTCTAATGGCACCTCTGCAATGACACCTGGACCATTTAATCTCTTTG... | GTCAATATCTGTCCCCTTGGCCTTCCCAACTCCCGAGGCCATTCTGGCAGAAGTCAAGGGTGGGGAACCTGTGTCTTTTATTGTCCCCAGCATGAAGCTGGAATAAACCCTAATTCCTTATCTGGCCTTCGTTTCTAGGCTACGTGGCCCCCTCCCACCCCCCACCTCCATCTCCTTCCCCTTCCTTGGGGCCCAAGTTCATTCCTGCCTCAGGGCTTTGCACCAGTCGCTCTTGGGACGCCAGATGCTGATTTCTCTTCATTAGGGTCTTAGCTCTAATGGCACCTCTGCAATGACACCTGGACCATTTAATCTCTTTG... |
Task1_train_22896 | This genomic variant is located on Chromosome 16, within the FA2H (fatty acid 2-hydroxylase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary spastic paraplegia 35 | GTTGTCTGGGAGAGCAAGGCACTGAGGGCAACTGAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTG... | GTTGTCTGGGAGAGCAAGGCACTGAGGGCAACTGAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTG... |
Task1_train_22897 | The variant affects gene FA2H (fatty acid 2-hydroxylase), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary spastic paraplegia 35 | GAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTGGCGTGGGCCTCCCTCCCTTCAGACCAGGAACAA... | GAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTGGCGTGGGCCTCCCTCCCTTCAGACCAGGAACAA... |
Task1_train_22898 | This variant impacts the gene FA2H, LOC130059394 (fatty acid 2-hydroxylase| ATAC-STARR-seq lymphoblastoid silent region 7701) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hereditary spastic paraplegia 35 | CATTAAGGAACCAGTTCCATGACTGAATAAATGATGGAGAAATTAGGCAGGATGACCCAATGAAAAGCCACCTGAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCAC... | CATTAAGGAACCAGTTCCATGACTGAATAAATGATGGAGAAATTAGGCAGGATGACCCAATGAAAAGCCACCTGAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCAC... |
Task1_train_22899 | This is a variant in LOC130059394, FA2H (ATAC-STARR-seq lymphoblastoid silent region 7701| fatty acid 2-hydroxylase), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Spastic paraplegia | GAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTC... | GAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTC... |
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