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_6700 | A genetic alteration is present in LARS2, LARS2-AS1 (leucyl-tRNA synthetase 2, mitochondrial| LARS2 antisense RNA 1) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Perrault syndrome 4 | GTTGAATTTCTTTAGGGAACTGTTTTTCACGAAGAAAAAAAGTGTTTTTTAAAAATTTTATCAGAATTCTGGTACAGTGACTGGAGAACACCAAACTATATTAAGATGCAAATATGTGGTGGTAGCCAGGCTCTTTTTTCTAGCCTCAAAGCTGAAGCCAGCCAAGTCTATCCTGGGGAAAAAGGTGGCTTGAGGTGTCAGGGAACCAATTCACAAATATTCGAAGTCCTCCAAAGGCAAAGGTTTGCTTGATTGGCTGACCTCAAGGGACGGCATTACCTTGGCAACACAGAGGTCTGTCGCCAGCCAGTGCTGCCCCT... | GTTGAATTTCTTTAGGGAACTGTTTTTCACGAAGAAAAAAAGTGTTTTTTAAAAATTTTATCAGAATTCTGGTACAGTGACTGGAGAACACCAAACTATATTAAGATGCAAATATGTGGTGGTAGCCAGGCTCTTTTTTCTAGCCTCAAAGCTGAAGCCAGCCAAGTCTATCCTGGGGAAAAAGGTGGCTTGAGGTGTCAGGGAACCAATTCACAAATATTCGAAGTCCTCCAAAGGCAAAGGTTTGCTTGATTGGCTGACCTCAAGGGACGGCATTACCTTGGCAACACAGAGGTCTGTCGCCAGCCAGTGCTGCCCCT... |
Task1_train_6701 | A mutation found in LARS2 (leucyl-tRNA synthetase 2, mitochondrial) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Nonsyndromic genetic hearing loss | GAGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAAGAAAGAAAACAGTTGGAGACATGCAGTATACATAGGGACAGCTGTGAGAAACCCCCAGCACTGTGACCATTACATTTAGAAAAACTAGTGCATAATGGATGAGATTAGGTCACACGACAACCCTGTAAATGGTAGGCAGCCTCTCCAGCCAAACATTAGAGACAGGGT... | GAGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAAGAAAGAAAACAGTTGGAGACATGCAGTATACATAGGGACAGCTGTGAGAAACCCCCAGCACTGTGACCATTACATTTAGAAAAACTAGTGCATAATGGATGAGATTAGGTCACACGACAACCCTGTAAATGGTAGGCAGCCTCTCCAGCCAAACATTAGAGACAGGGT... |
Task1_train_6702 | This mutation is located in gene LARS2 (leucyl-tRNA synthetase 2, mitochondrial) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Perrault syndrome 4 | CTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAAGAAAGAAAACAGTTGGAGACATGCAGTATACATAGGGACAGCTGTGAGAAACCCCCAGCACTGTGACCATTACATTTAGAAAAACTAGTGCATAATGGATGAGATTAGGTCACACGACAACCCTGTAAATGGTAGGCAGCCTCTCCAGCCAAACATTAGAGACAGGGTTTAGGGAAGCAGTCGATGCAATTACC... | CTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAAGAAAGAAAACAGTTGGAGACATGCAGTATACATAGGGACAGCTGTGAGAAACCCCCAGCACTGTGACCATTACATTTAGAAAAACTAGTGCATAATGGATGAGATTAGGTCACACGACAACCCTGTAAATGGTAGGCAGCCTCTCCAGCCAAACATTAGAGACAGGGTTTAGGGAAGCAGTCGATGCAATTACC... |
Task1_train_6703 | A variant affecting Chromosome 3, within the gene LARS2 (leucyl-tRNA synthetase 2, mitochondrial), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Perrault syndrome 4 | ACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAAGAAAGAAAACAGTTGGAGACATGCAGTATACATAGGGACAGCTGTGAGAAACCCCCAGCACTGTGACCATTACATTTAGAAAAACTAGTGCATAATGGATGAGATTAGGTCACACGACAACCCTGTAAATGGTAGGCAGCCTCTCCAGCCAAACATTAGAGACAGGGTTTAGGGAAGCAGTCGATGCAATTACCTCATCAAAGCAAAATATATCAAGGTTTATAACGGTCCGTGGGAGAAAAAGAAGCTGGAGAAGCAGAACTGGCAGT... | ACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAAGAAAGAAAACAGTTGGAGACATGCAGTATACATAGGGACAGCTGTGAGAAACCCCCAGCACTGTGACCATTACATTTAGAAAAACTAGTGCATAATGGATGAGATTAGGTCACACGACAACCCTGTAAATGGTAGGCAGCCTCTCCAGCCAAACATTAGAGACAGGGTTTAGGGAAGCAGTCGATGCAATTACCTCATCAAAGCAAAATATATCAAGGTTTATAACGGTCCGTGGGAGAAAAAGAAGCTGGAGAAGCAGAACTGGCAGT... |
Task1_train_6704 | This alteration in LZTFL1 (leucine zipper transcription factor like 1) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Bardet-Biedl syndrome 17 | TATATTAAAAATAAAATAATTCATGCCCTCTGATCCAGAAATTTCTTAGCCATAAATATGACCCAAAGGAATAACTGGAAAGTATTTTGCATGTGTATGTACATAGATTCATCTCAGCAGTATTTATCCAACAATGGAGTATTTACGGTGTGCCCGTGAAGTGGAATGGTAAGTGGCCACTCCAATTAATGAGAATGATTAGAAAGAGAGGTAGATAACTACTAGTATTGTCTCCATTTGTCAGATGAGTAAAATGAAGCTCAGCTACCTCAGATAACCTGCTCAAGGTAACACAGCCAGGAAGTGACAGAGCCAGGATG... | TATATTAAAAATAAAATAATTCATGCCCTCTGATCCAGAAATTTCTTAGCCATAAATATGACCCAAAGGAATAACTGGAAAGTATTTTGCATGTGTATGTACATAGATTCATCTCAGCAGTATTTATCCAACAATGGAGTATTTACGGTGTGCCCGTGAAGTGGAATGGTAAGTGGCCACTCCAATTAATGAGAATGATTAGAAAGAGAGGTAGATAACTACTAGTATTGTCTCCATTTGTCAGATGAGTAAAATGAAGCTCAGCTACCTCAGATAACCTGCTCAAGGTAACACAGCCAGGAAGTGACAGAGCCAGGATG... |
Task1_train_6705 | This alteration occurs within gene FYCO1 (FYVE and coiled-coil domain autophagy adaptor 1) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Cataract 18 | AGATAACAGCCACCCCCATCTGTGGTTGGTGACAGTGGCCTGTGAAGGCAGAGGAGCACCTAAGCATCCTGTACACGGGCCCCTTCTGCCCCCTGGTGTCACTGTGGGGAAAGGCAGTGGGGCCCCCTGGAAGCTAGAGGAGGAAGGCTCAGTAGGTCCCCAAGTTCCTGATTCCTGGTAGAGCCACACAGGAACCCCAGGCTGCTGAGGACTCGGTGGGTAGGGACTGAGCAAGGGGAGAGGCCCACAGCCCAGCCACATATGGGCAGGCAAAACAGCAAAGGCCTGGATCCCTGATTTCGTCCCTTCCCTCCCTGCCA... | AGATAACAGCCACCCCCATCTGTGGTTGGTGACAGTGGCCTGTGAAGGCAGAGGAGCACCTAAGCATCCTGTACACGGGCCCCTTCTGCCCCCTGGTGTCACTGTGGGGAAAGGCAGTGGGGCCCCCTGGAAGCTAGAGGAGGAAGGCTCAGTAGGTCCCCAAGTTCCTGATTCCTGGTAGAGCCACACAGGAACCCCAGGCTGCTGAGGACTCGGTGGGTAGGGACTGAGCAAGGGGAGAGGCCCACAGCCCAGCCACATATGGGCAGGCAAAACAGCAAAGGCCTGGATCCCTGATTTCGTCCCTTCCCTCCCTGCCA... |
Task1_train_6706 | A variant has been detected on Chromosome 3 in MYL3 (myosin light chain 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hypertrophic cardiomyopathy | CTCGGCCTCCTCCAGCTCAGCGTCCATGGGCCACAGAATTCACATAGGCAAGCCAAGGGCCACAGAGAGGAAAGAAGGAGAGAGGGAAAGAAGGAGGAAAGGGAAGAGGGGAAGGAGAAATGTGGGACAAAGAGGGAAAGGAAGGAAGGAAGGAGGGGAGGGAGGGAGAAAAGGAGGGAGGAAGGAAAAAAAGGGGGAAGGAAGAAGGAAAAGAGGAAAGGAAGAAAGGAAAGGAGGGAAGAAGGGGAAGAAGGGGAGGAAAATGGGAGGGAAGGCAGGAAAGAAGAAAGGACGAAAGGGAGGGAGGTGGGTAGGAAGGG... | CTCGGCCTCCTCCAGCTCAGCGTCCATGGGCCACAGAATTCACATAGGCAAGCCAAGGGCCACAGAGAGGAAAGAAGGAGAGAGGGAAAGAAGGAGGAAAGGGAAGAGGGGAAGGAGAAATGTGGGACAAAGAGGGAAAGGAAGGAAGGAAGGAGGGGAGGGAGGGAGAAAAGGAGGGAGGAAGGAAAAAAAGGGGGAAGGAAGAAGGAAAAGAGGAAAGGAAGAAAGGAAAGGAGGGAAGAAGGGGAAGAAGGGGAGGAAAATGGGAGGGAAGGCAGGAAAGAAGAAAGGACGAAAGGGAGGGAGGTGGGTAGGAAGGG... |
Task1_train_6707 | Here’s a variant in MYL3 (myosin light chain 3) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cardiovascular phenotype | CTCGGCCTCCTCCAGCTCAGCGTCCATGGGCCACAGAATTCACATAGGCAAGCCAAGGGCCACAGAGAGGAAAGAAGGAGAGAGGGAAAGAAGGAGGAAAGGGAAGAGGGGAAGGAGAAATGTGGGACAAAGAGGGAAAGGAAGGAAGGAAGGAGGGGAGGGAGGGAGAAAAGGAGGGAGGAAGGAAAAAAAGGGGGAAGGAAGAAGGAAAAGAGGAAAGGAAGAAAGGAAAGGAGGGAAGAAGGGGAAGAAGGGGAGGAAAATGGGAGGGAAGGCAGGAAAGAAGAAAGGACGAAAGGGAGGGAGGTGGGTAGGAAGGG... | CTCGGCCTCCTCCAGCTCAGCGTCCATGGGCCACAGAATTCACATAGGCAAGCCAAGGGCCACAGAGAGGAAAGAAGGAGAGAGGGAAAGAAGGAGGAAAGGGAAGAGGGGAAGGAGAAATGTGGGACAAAGAGGGAAAGGAAGGAAGGAAGGAGGGGAGGGAGGGAGAAAAGGAGGGAGGAAGGAAAAAAAGGGGGAAGGAAGAAGGAAAAGAGGAAAGGAAGAAAGGAAAGGAGGGAAGAAGGGGAAGAAGGGGAGGAAAATGGGAGGGAAGGCAGGAAAGAAGAAAGGACGAAAGGGAGGGAGGTGGGTAGGAAGGG... |
Task1_train_6708 | This mutation occurs in LOC129936652, PTH1R (ATAC-STARR-seq lymphoblastoid silent region 14297| parathyroid hormone 1 receptor) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Metaphyseal chondrodysplasia, Jansen type | GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGT... | GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGT... |
Task1_train_6709 | This mutation is located in gene LOC129936652, PTH1R (ATAC-STARR-seq lymphoblastoid silent region 14297| parathyroid hormone 1 receptor) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Chondrodysplasia Blomstrand type | GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGT... | GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGT... |
Task1_train_6710 | This gene mutation involves LOC129936652, PTH1R (ATAC-STARR-seq lymphoblastoid silent region 14297| parathyroid hormone 1 receptor) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Eiken syndrome | GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGT... | GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGT... |
Task1_train_6711 | A mutation in LOC129936652, PTH1R (ATAC-STARR-seq lymphoblastoid silent region 14297| parathyroid hormone 1 receptor), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Primary failure of tooth eruption | GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGT... | GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGT... |
Task1_train_6712 | Gene PTH1R (parathyroid hormone 1 receptor) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Metaphyseal chondrodysplasia, Jansen type | GGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGG... | GGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGG... |
Task1_train_6713 | Chromosome 3 houses a mutation in gene PTH1R (parathyroid hormone 1 receptor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Primary failure of tooth eruption | CCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAAT... | CCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAAT... |
Task1_train_6714 | Located on Chromosome 3, this mutation impacts PTH1R (parathyroid hormone 1 receptor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | ATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTTGCTGGAGCTGCGCACTCCTCCCAGCCCCCCACAGGCTCTGGGATCCAGTTACCGATAATTGTCCATTATTGTTGGCAGCTGCAGA... | ATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTTGCTGGAGCTGCGCACTCCTCCCAGCCCCCCACAGGCTCTGGGATCCAGTTACCGATAATTGTCCATTATTGTTGGCAGCTGCAGA... |
Task1_train_6715 | A mutation found in PTH1R (parathyroid hormone 1 receptor) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Metaphyseal chondrodysplasia, Jansen type | GCCCCTTGAGCTGGCGCAGGCCAGGACATACTGACACACCGAGGTCTCCCTGTGGCCTCTGCTTGGGACAAAACCTCTCACCCCATCCAGTCTCATCCACGAGGGCTAGGACCTTTCAAACCAGGTTGTGGGGGGTGCTGTGCTGGGGCAAAAAAAAATGCGGAAAATAGGCTGTCTCCCCATGGGAGCTGCAAGTCCAAAGCAGTGCCCTCTGCAGAGGGAGTGGACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAG... | GCCCCTTGAGCTGGCGCAGGCCAGGACATACTGACACACCGAGGTCTCCCTGTGGCCTCTGCTTGGGACAAAACCTCTCACCCCATCCAGTCTCATCCACGAGGGCTAGGACCTTTCAAACCAGGTTGTGGGGGGTGCTGTGCTGGGGCAAAAAAAAATGCGGAAAATAGGCTGTCTCCCCATGGGAGCTGCAAGTCCAAAGCAGTGCCCTCTGCAGAGGGAGTGGACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAG... |
Task1_train_6716 | This sequence change occurs on Chromosome 3, altering PTH1R (parathyroid hormone 1 receptor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Metaphyseal chondrodysplasia, Jansen type | CCCCTTGAGCTGGCGCAGGCCAGGACATACTGACACACCGAGGTCTCCCTGTGGCCTCTGCTTGGGACAAAACCTCTCACCCCATCCAGTCTCATCCACGAGGGCTAGGACCTTTCAAACCAGGTTGTGGGGGGTGCTGTGCTGGGGCAAAAAAAAATGCGGAAAATAGGCTGTCTCCCCATGGGAGCTGCAAGTCCAAAGCAGTGCCCTCTGCAGAGGGAGTGGACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGG... | CCCCTTGAGCTGGCGCAGGCCAGGACATACTGACACACCGAGGTCTCCCTGTGGCCTCTGCTTGGGACAAAACCTCTCACCCCATCCAGTCTCATCCACGAGGGCTAGGACCTTTCAAACCAGGTTGTGGGGGGTGCTGTGCTGGGGCAAAAAAAAATGCGGAAAATAGGCTGTCTCCCCATGGGAGCTGCAAGTCCAAAGCAGTGCCCTCTGCAGAGGGAGTGGACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGG... |
Task1_train_6717 | This alteration occurs within gene PTH1R (parathyroid hormone 1 receptor) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Metaphyseal chondrodysplasia, Jansen type | ACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCT... | ACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCT... |
Task1_train_6718 | This is a variant in PTH1R (parathyroid hormone 1 receptor), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Metaphyseal chondrodysplasia, Jansen type | ACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCT... | ACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCT... |
Task1_train_6719 | A change on Chromosome 3 affects gene NBEAL2 (neurobeachin like 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Gray platelet syndrome | AACAGCAAGGTGGGTAGGGCCCAGCCTGGGGGTGAGGGTCTGGAAGCCAGAGGCTAGGGGAGCCACGCATAGGTGCCAGGCTGCTGCTGAGCAAACATGGGCTGGACAGAGTCAGTGTTTTGCAGCTGGTGGGATGGCTTGCAGTTCAGTGGGAGGGTGTGGGGCATGGACAAGGGCCCATCCCTTGGGGCCTCTATAGGACTGGGCTTGAGGCTTAGGACATCTTTGTGCCCCATGGAAGCGGGGCTTGTTATGGAAGGAAGGGAGCTGCTCTGGTGCCTTGTTTCCCTTTCCGTGGCCCCAAGTACAGGGGCTAGAGG... | AACAGCAAGGTGGGTAGGGCCCAGCCTGGGGGTGAGGGTCTGGAAGCCAGAGGCTAGGGGAGCCACGCATAGGTGCCAGGCTGCTGCTGAGCAAACATGGGCTGGACAGAGTCAGTGTTTTGCAGCTGGTGGGATGGCTTGCAGTTCAGTGGGAGGGTGTGGGGCATGGACAAGGGCCCATCCCTTGGGGCCTCTATAGGACTGGGCTTGAGGCTTAGGACATCTTTGTGCCCCATGGAAGCGGGGCTTGTTATGGAAGGAAGGGAGCTGCTCTGGTGCCTTGTTTCCCTTTCCGTGGCCCCAAGTACAGGGGCTAGAGG... |
Task1_train_6720 | Gene NBEAL2 (neurobeachin like 2), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Gray platelet syndrome | GAGGCCCTTCCCAGCCTTTGTTAGAGTGGGTCTTGCTGAGCTGCTCAGAGAGGGCCCTAGGTCATGATAGGGTCACAGCAGTTGGGGCAAGGAGTAGAAGGCCTGGTGCTCTGACAGAGTTGCTGATCCAGCACATGCCACATGCCTTGGGGTGCTTGGCTCTGCACCTTTTTTACTGCAGGGGGCTGCCAGCTGTGACACCCTGGCCCCTGCCTCTCCTGATGGCCCCTCCCCACCCCAAGGTCCTGGACCAAGACACAGACGCCATTGCAGTCCATGTAGTCAGAGTGCTGACCTGCATCATGAGTGACTCCCCCTCG... | GAGGCCCTTCCCAGCCTTTGTTAGAGTGGGTCTTGCTGAGCTGCTCAGAGAGGGCCCTAGGTCATGATAGGGTCACAGCAGTTGGGGCAAGGAGTAGAAGGCCTGGTGCTCTGACAGAGTTGCTGATCCAGCACATGCCACATGCCTTGGGGTGCTTGGCTCTGCACCTTTTTTACTGCAGGGGGCTGCCAGCTGTGACACCCTGGCCCCTGCCTCTCCTGATGGCCCCTCCCCACCCCAAGGTCCTGGACCAAGACACAGACGCCATTGCAGTCCATGTAGTCAGAGTGCTGACCTGCATCATGAGTGACTCCCCCTCG... |
Task1_train_6721 | A mutation in NBEAL2 (neurobeachin like 2), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Gray platelet syndrome | CGACCCATGACCTGGGGGACATTCTGCAGGGACACTCCCATCCCCCGCTGGAAACTGTCCAGCGCCGAGACATATTCACGCATGCGTCTGAAGCTGGTGCCCAACCATCACTTCGACCCTCACCTGGAAGCCAGCGCTCTCCGAGACAATCTGGGTGAGGGAGTGTGCTGAGATGGGTCCACCCAACTCGATTGTCCCGTCTCCTGTCCTGCCTTGCTTCTGCTGAGTACCCTTGGCCCCTTGCAGGTGAGGTTCCCCTGACACCCACCGAGGAGGCCTCACTGCCTCTGGCAGTGACCAAAGAGGCCAAAGTGAGCACC... | CGACCCATGACCTGGGGGACATTCTGCAGGGACACTCCCATCCCCCGCTGGAAACTGTCCAGCGCCGAGACATATTCACGCATGCGTCTGAAGCTGGTGCCCAACCATCACTTCGACCCTCACCTGGAAGCCAGCGCTCTCCGAGACAATCTGGGTGAGGGAGTGTGCTGAGATGGGTCCACCCAACTCGATTGTCCCGTCTCCTGTCCTGCCTTGCTTCTGCTGAGTACCCTTGGCCCCTTGCAGGTGAGGTTCCCCTGACACCCACCGAGGAGGCCTCACTGCCTCTGGCAGTGACCAAAGAGGCCAAAGTGAGCACC... |
Task1_train_6722 | Here is a mutation in SETD2 (SET domain containing 2, histone lysine methyltransferase) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Luscan-Lumish syndrome | TGGTCTACAACCCTACTTATTCTTCCTTCCATAAAAGTACAGCTATAAAGGCCTTTTCTGTGTCCATTTGTGTACTTGTCTTCATCTCCACCTTCTTAACTGAGCTTCTTTACAGGCTCCACTAGCAGCCTCCAAACACAAGAGGGACTCCTTTTAGGGACTCCTGTGCTGTCACAAAGCAGGCCTTAAATAAAAATCCATCAAGTGACTATCCCAGCACTTCTTTCAATTAACTGCAATTCTGATTCCTGCAGTTCACATACTGACTTCATAAGTAAATTTACTACGAACTCTTCCTTTCATATTTAGAAAAAGGCCTG... | TGGTCTACAACCCTACTTATTCTTCCTTCCATAAAAGTACAGCTATAAAGGCCTTTTCTGTGTCCATTTGTGTACTTGTCTTCATCTCCACCTTCTTAACTGAGCTTCTTTACAGGCTCCACTAGCAGCCTCCAAACACAAGAGGGACTCCTTTTAGGGACTCCTGTGCTGTCACAAAGCAGGCCTTAAATAAAAATCCATCAAGTGACTATCCCAGCACTTCTTTCAATTAACTGCAATTCTGATTCCTGCAGTTCACATACTGACTTCATAAGTAAATTTACTACGAACTCTTCCTTTCATATTTAGAAAAAGGCCTG... |
Task1_train_6723 | Assess the clinical impact of this variant on gene SETD2 (SET domain containing 2, histone lysine methyltransferase), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | TTATCACATATCCACAACCGAGGCAATCAATATAACAGTTTTAAGAAACAAGCAAGCTAAATGTGAACTGACCTCTTCCTGAAGCTTCTGGTTACTTTCCCGGCCGTCACCTAGCTCTGCCATCCAGATCCACAACAAAGACAGCCCATGACGTTCCAGAAAGGACTTCAGGCAGGACTGTGAGTGTGTGTTCTTTCATGGGGGAAGGGAGACACGATGCAGAGCATTGGGAGGCAATATCAGAATATTACAAAGAGCCCGAGGAGAGTTCATGTATACGTTACACATTATAGGGTTCACTTACATTCACAAAAAAAACC... | TTATCACATATCCACAACCGAGGCAATCAATATAACAGTTTTAAGAAACAAGCAAGCTAAATGTGAACTGACCTCTTCCTGAAGCTTCTGGTTACTTTCCCGGCCGTCACCTAGCTCTGCCATCCAGATCCACAACAAAGACAGCCCATGACGTTCCAGAAAGGACTTCAGGCAGGACTGTGAGTGTGTGTTCTTTCATGGGGGAAGGGAGACACGATGCAGAGCATTGGGAGGCAATATCAGAATATTACAAAGAGCCCGAGGAGAGTTCATGTATACGTTACACATTATAGGGTTCACTTACATTCACAAAAAAAACC... |
Task1_train_6724 | Consider this mutation in PTPN23 (protein tyrosine phosphatase non-receptor type 23) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | TGCTGTTGGCTGGGGTGGTGCCCGGCTGCCTCCTGAGCTGCTTGTCATCTGATGGACAGGCAGGGCCGGGTGGGAGGCAGGAGGAGAAAGGGTCCAAGCAGAGGAGGACAGAGCAGGCTTTCCTGCCACCCTCCACAGGTTGCATACTTCCAGAGCGCCCTGGACAAGCTCAATGAAGCCATCAAGTTGGCCAAGGTAAAGCTGAGGAAGGCCTGGCTGCCCTGAGGGTATAGGAGCAAGCCCGGTAGGACTGAGGGGGTGTCCTGGTGCCAGCCTTGGTTAGTGCTAAGGCCCCACCCCTGTCCCTAACCCCACAGGGC... | TGCTGTTGGCTGGGGTGGTGCCCGGCTGCCTCCTGAGCTGCTTGTCATCTGATGGACAGGCAGGGCCGGGTGGGAGGCAGGAGGAGAAAGGGTCCAAGCAGAGGAGGACAGAGCAGGCTTTCCTGCCACCCTCCACAGGTTGCATACTTCCAGAGCGCCCTGGACAAGCTCAATGAAGCCATCAAGTTGGCCAAGGTAAAGCTGAGGAAGGCCTGGCTGCCCTGAGGGTATAGGAGCAAGCCCGGTAGGACTGAGGGGGTGTCCTGGTGCCAGCCTTGGTTAGTGCTAAGGCCCCACCCCTGTCCCTAACCCCACAGGGC... |
Task1_train_6725 | A variant was discovered on Chromosome 3, affecting PTPN23 (protein tyrosine phosphatase non-receptor type 23). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | GACTGCCCACTCCCCCTGCTCCTGATCCCCAGGTACAATTCTGCCAAGAAGGACAACGACTTCATTTACCATGAGGCTGTCCCAGCATTGGACACTCTTCAGCCTGTAAAAGGTCGGGGAGCTGAGAGGTGGGGGCAGAGGTGACGGTGGGGTGGGGACAGGACACAGGAGGCTGCCTCAAGGACTCTGCGTGGGCCTGATCTCCACAATTCCCACCCCCCCAGGAGCCCCCTTGGTGAAGCCCTTGCCAGTGAACCCCACAGACCCAGCTGTTACAGGCCCTGACATCTTTGCCAAACTGGTACCCATGGCTGCCCACG... | GACTGCCCACTCCCCCTGCTCCTGATCCCCAGGTACAATTCTGCCAAGAAGGACAACGACTTCATTTACCATGAGGCTGTCCCAGCATTGGACACTCTTCAGCCTGTAAAAGGTCGGGGAGCTGAGAGGTGGGGGCAGAGGTGACGGTGGGGTGGGGACAGGACACAGGAGGCTGCCTCAAGGACTCTGCGTGGGCCTGATCTCCACAATTCCCACCCCCCCAGGAGCCCCCTTGGTGAAGCCCTTGCCAGTGAACCCCACAGACCCAGCTGTTACAGGCCCTGACATCTTTGCCAAACTGGTACCCATGGCTGCCCACG... |
Task1_train_6726 | With a mutation on Chromosome 3 in gene DHX30 (DExH-box helicase 30), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Neurodevelopmental disorder with severe motor impairment and absent language | CCTGTCTGGGAAGGAGCAAGCTTTGCAGTGGCTGGAGGGCCATTTGTCAGTGAGGCTGGTGGGTAAAACCCATGAAGTCTGGGGAGAGGGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCC... | CCTGTCTGGGAAGGAGCAAGCTTTGCAGTGGCTGGAGGGCCATTTGTCAGTGAGGCTGGTGGGTAAAACCCATGAAGTCTGGGGAGAGGGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCC... |
Task1_train_6727 | Gene DHX30 (DExH-box helicase 30) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Neurodevelopmental disorder with severe motor impairment and absent language | GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCC... | GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCC... |
Task1_train_6728 | Mutation context: Chromosome 3, Gene DHX30 (DExH-box helicase 30). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Seizure | GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCC... | GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCC... |
Task1_train_6729 | Given a variant located on Chromosome 3 and affecting DHX30 (DExH-box helicase 30), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Short stature | GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCC... | GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCC... |
Task1_train_6730 | This variant lies on Chromosome 3 and affects the gene DHX30 (DExH-box helicase 30). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Microcephaly | GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCC... | GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCC... |
Task1_train_6731 | A genomic change on Chromosome 3 affects DHX30 (DExH-box helicase 30). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Strabismus | GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCC... | GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCC... |
Task1_train_6732 | An alteration has been detected in DHX30 (DExH-box helicase 30) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Oculomotor apraxia | GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCC... | GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCC... |
Task1_train_6733 | This alteration occurs within gene DHX30 (DExH-box helicase 30) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Unsteady gait | GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCC... | GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCC... |
Task1_train_6734 | This gene mutation involves DHX30 (DExH-box helicase 30) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Global developmental delay | CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCT... | CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCT... |
Task1_train_6735 | The following genetic variant occurs in DHX30 (DExH-box helicase 30) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Strabismus | CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCT... | CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCT... |
Task1_train_6736 | This variant impacts the gene DHX30 (DExH-box helicase 30) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hearing impairment | CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCT... | CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCT... |
Task1_train_6737 | Consider a variant on Chromosome 3 in gene DHX30 (DExH-box helicase 30). Determine its clinical classification and disease relevance. | Pathogenic; Axial hypotonia | CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCT... | CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCT... |
Task1_train_6738 | Chromosome 3 houses a mutation in gene DHX30 (DExH-box helicase 30). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Sleep abnormality | CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCT... | CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCT... |
Task1_train_6739 | A genetic alteration is present in DHX30 (DExH-box helicase 30) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Delayed speech and language development | CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCT... | CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCT... |
Task1_train_6740 | A mutation in DHX30 (DExH-box helicase 30), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Microcephaly | CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCT... | CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCT... |
Task1_train_6741 | Located on Chromosome 3, this mutation impacts DHX30 (DExH-box helicase 30). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Neurodevelopmental disorder with severe motor impairment and absent language | TCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAG... | TCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAG... |
Task1_train_6742 | The gene DHX30 (DExH-box helicase 30), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Neurodevelopmental disorder with severe motor impairment and absent language | GCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGG... | GCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGG... |
Task1_train_6743 | This is a variant in DHX30 (DExH-box helicase 30), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Neurodevelopmental disorder with severe motor impairment and absent language | CCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGC... | CCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGC... |
Task1_train_6744 | The gene ATRIP, ATRIP-TREX1, TREX1 (ATR interacting protein| ATRIP-TREX1 readthrough| three prime repair exonuclease 1) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | GGAGGTGAGTGGGTAGGGGCCAACAGCTGGCAGCTCTGGTGGTAAGGGGGCCCCGTGCAAGGACTGTAGGCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACA... | GGAGGTGAGTGGGTAGGGGCCAACAGCTGGCAGCTCTGGTGGTAAGGGGGCCCCGTGCAAGGACTGTAGGCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACA... |
Task1_train_6745 | This genomic variant is located on Chromosome 3, within the ATRIP, ATRIP-TREX1, TREX1 (ATR interacting protein| ATRIP-TREX1 readthrough| three prime repair exonuclease 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Chilblain lupus 1 | GGAGGTGAGTGGGTAGGGGCCAACAGCTGGCAGCTCTGGTGGTAAGGGGGCCCCGTGCAAGGACTGTAGGCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACA... | GGAGGTGAGTGGGTAGGGGCCAACAGCTGGCAGCTCTGGTGGTAAGGGGGCCCCGTGCAAGGACTGTAGGCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACA... |
Task1_train_6746 | This variant affects the gene ATRIP, ATRIP-TREX1, TREX1 (ATR interacting protein| ATRIP-TREX1 readthrough| three prime repair exonuclease 1) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Aicardi-Goutieres syndrome 1 | GGAGGTGAGTGGGTAGGGGCCAACAGCTGGCAGCTCTGGTGGTAAGGGGGCCCCGTGCAAGGACTGTAGGCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACA... | GGAGGTGAGTGGGTAGGGGCCAACAGCTGGCAGCTCTGGTGGTAAGGGGGCCCCGTGCAAGGACTGTAGGCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACA... |
Task1_train_6747 | This variant affects gene ATRIP, ATRIP-TREX1, TREX1 (ATR interacting protein| ATRIP-TREX1 readthrough| three prime repair exonuclease 1) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Chilblain lupus 1 | GGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGAT... | GGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGAT... |
Task1_train_6748 | Mutation context: Chromosome 3, Gene ATRIP, ATRIP-TREX1, TREX1 (ATR interacting protein| ATRIP-TREX1 readthrough| three prime repair exonuclease 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Aicardi-Goutieres syndrome 1 | GGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGAT... | GGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGAT... |
Task1_train_6749 | A mutation in ATRIP, ATRIP-TREX1, TREX1 (ATR interacting protein| ATRIP-TREX1 readthrough| three prime repair exonuclease 1), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | GGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGAT... | GGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGAT... |
Task1_train_6750 | A genetic alteration is present in ATRIP, ATRIP-TREX1, TREX1 (ATR interacting protein| ATRIP-TREX1 readthrough| three prime repair exonuclease 1) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | CCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGG... | CCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGG... |
Task1_train_6751 | This mutation is located in gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | GCGATAGGACAATGCGCGAGCCAGGGTGGCGGGTGGGGCTGCAGTGGCTCTGGGCAGCCCACGGCCATGTGGGAGCAGCTGAGGGGCTCTCTGAGGCCGCAGGTCGGGGAGTGGTCTGGGGAGAATTCTGAGGGCGGAGCTGGAAGGTTGGGATAGGGGTCACTGGGACAACCAGGACTCTGCCCAACATCAGGACCATCAGCAACAGCAGAGCACACCTGGTCATCGTGAGGTCAGGCTGCAAGGAGAAAATGGGCTCAGGGCAGGGGCTCTGGTCAACTGGGGTCCATGGACAGAGACAGATGGCAAGGGCAGAGTGA... | GCGATAGGACAATGCGCGAGCCAGGGTGGCGGGTGGGGCTGCAGTGGCTCTGGGCAGCCCACGGCCATGTGGGAGCAGCTGAGGGGCTCTCTGAGGCCGCAGGTCGGGGAGTGGTCTGGGGAGAATTCTGAGGGCGGAGCTGGAAGGTTGGGATAGGGGTCACTGGGACAACCAGGACTCTGCCCAACATCAGGACCATCAGCAACAGCAGAGCACACCTGGTCATCGTGAGGTCAGGCTGCAAGGAGAAAATGGGCTCAGGGCAGGGGCTCTGGTCAACTGGGGTCCATGGACAGAGACAGATGGCAAGGGCAGAGTGA... |
Task1_train_6752 | A variant affecting Chromosome 3, within the gene COL7A1 (collagen type VII alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Epidermolysis bullosa dystrophica | GAGCACACCTGGTCATCGTGAGGTCAGGCTGCAAGGAGAAAATGGGCTCAGGGCAGGGGCTCTGGTCAACTGGGGTCCATGGACAGAGACAGATGGCAAGGGCAGAGTGACAGAGCGGGGGATGGAGAGAGAGGAAGACACCGAGAAAGGGGTTAGAGAGGCCAGGCCAGGCCAGAGACAGAGAAGGGGAGACAAGAGGAGAGCCAGAATGAGACAAAGAGGCAGAAAGCAAGACAGAAAAAAAGAAACAAAGAAATCCAGAGACAGAGGGACAGCAAGAGAGGGAGATGAAGGAGATGGAGGCAGAGCAAAATGGAGAC... | GAGCACACCTGGTCATCGTGAGGTCAGGCTGCAAGGAGAAAATGGGCTCAGGGCAGGGGCTCTGGTCAACTGGGGTCCATGGACAGAGACAGATGGCAAGGGCAGAGTGACAGAGCGGGGGATGGAGAGAGAGGAAGACACCGAGAAAGGGGTTAGAGAGGCCAGGCCAGGCCAGAGACAGAGAAGGGGAGACAAGAGGAGAGCCAGAATGAGACAAAGAGGCAGAAAGCAAGACAGAAAAAAAGAAACAAAGAAATCCAGAGACAGAGGGACAGCAAGAGAGGGAGATGAAGGAGATGGAGGCAGAGCAAAATGGAGAC... |
Task1_train_6753 | Mutation context: Chromosome 3, Gene COL7A1 (collagen type VII alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Recessive dystrophic epidermolysis bullosa | TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCC... | TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCC... |
Task1_train_6754 | Given this context: Chromosome 3, gene COL7A1 (collagen type VII alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Pretibial dystrophic epidermolysis bullosa | TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCC... | TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCC... |
Task1_train_6755 | The variant affects gene COL7A1 (collagen type VII alpha 1 chain), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin | TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCC... | TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCC... |
Task1_train_6756 | A variant has been detected on Chromosome 3 in COL7A1 (collagen type VII alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Nonsyndromic congenital nail disorder 8 | TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCC... | TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCC... |
Task1_train_6757 | A mutation in COL7A1 (collagen type VII alpha 1 chain), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Epidermolysis bullosa pruriginosa | TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCC... | TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCC... |
Task1_train_6758 | A variant affecting Chromosome 3, within the gene COL7A1 (collagen type VII alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Recessive dystrophic epidermolysis bullosa | TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCC... | TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCC... |
Task1_train_6759 | The gene COL7A1 (collagen type VII alpha 1 chain) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCC... | TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCC... |
Task1_train_6760 | A variant on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Transient bullous dermolysis of the newborn | TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCC... | TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCC... |
Task1_train_6761 | This genomic variant is located on Chromosome 3, within the COL7A1 (collagen type VII alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Recessive dystrophic epidermolysis bullosa | AGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCA... | AGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCA... |
Task1_train_6762 | A sequence alteration has been identified in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Recessive dystrophic epidermolysis bullosa | AGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAAT... | AGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAAT... |
Task1_train_6763 | A variant was discovered in gene COL7A1 (collagen type VII alpha 1 chain), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Epidermolysis bullosa dystrophica | AGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTA... | AGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTA... |
Task1_train_6764 | With a mutation on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Epidermolysis bullosa dystrophica | TGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGC... | TGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGC... |
Task1_train_6765 | Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; COL7A1-related disorder | TGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGC... | TGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGC... |
Task1_train_6766 | A genetic alteration is present in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | TGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGC... | TGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGC... |
Task1_train_6767 | A mutation in COL7A1 (collagen type VII alpha 1 chain), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not specified | CGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGG... | CGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGG... |
Task1_train_6768 | This variant affects gene COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Epidermolysis bullosa pruriginosa | CGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGG... | CGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGG... |
Task1_train_6769 | The gene COL7A1 (collagen type VII alpha 1 chain) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Recessive dystrophic epidermolysis bullosa | CAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACT... | CAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACT... |
Task1_train_6770 | This variant lies on Chromosome 3 and affects the gene COL7A1 (collagen type VII alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | AGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCA... | AGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCA... |
Task1_train_6771 | Here’s a variant in COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | GCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCT... | GCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCT... |
Task1_train_6772 | This alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; COL7A1-related disorder | GAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGG... | GAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGG... |
Task1_train_6773 | This gene mutation involves COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Recessive dystrophic epidermolysis bullosa | ACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCA... | ACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCA... |
Task1_train_6774 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | CCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCC... | CCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCC... |
Task1_train_6775 | A variant has been detected on Chromosome 3 in COL7A1 (collagen type VII alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Pretibial dystrophic epidermolysis bullosa | ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGC... | ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGC... |
Task1_train_6776 | With a mutation on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin | ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGC... | ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGC... |
Task1_train_6777 | Located on Chromosome 3, this mutation impacts COL7A1 (collagen type VII alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Nonsyndromic congenital nail disorder 8 | ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGC... | ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGC... |
Task1_train_6778 | This gene mutation involves COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Epidermolysis bullosa pruriginosa | ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGC... | ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGC... |
Task1_train_6779 | A genomic change on Chromosome 3 affects COL7A1 (collagen type VII alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Recessive dystrophic epidermolysis bullosa | ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGC... | ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGC... |
Task1_train_6780 | A sequence alteration has been identified in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGC... | ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGC... |
Task1_train_6781 | The gene COL7A1 (collagen type VII alpha 1 chain), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Transient bullous dermolysis of the newborn | ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGC... | ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGC... |
Task1_train_6782 | A variant has been detected on Chromosome 3 in COL7A1 (collagen type VII alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Recessive dystrophic epidermolysis bullosa | ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGC... | ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGC... |
Task1_train_6783 | Here is a variant affecting COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Epidermolysis bullosa dystrophica | TGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTA... | TGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTA... |
Task1_train_6784 | A change on Chromosome 3 affects gene COL7A1 (collagen type VII alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not specified | AAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCC... | AAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCC... |
Task1_train_6785 | A mutation in COL7A1 (collagen type VII alpha 1 chain), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | GACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGA... | GACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGA... |
Task1_train_6786 | A variant was discovered on Chromosome 3, affecting COL7A1 (collagen type VII alpha 1 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Pretibial dystrophic epidermolysis bullosa | ACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGAC... | ACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGAC... |
Task1_train_6787 | A genetic alteration is present in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Pretibial dystrophic epidermolysis bullosa | ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACAT... | ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACAT... |
Task1_train_6788 | A variant was discovered in gene COL7A1 (collagen type VII alpha 1 chain), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Transient bullous dermolysis of the newborn | ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACAT... | ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACAT... |
Task1_train_6789 | A mutation found in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Nonsyndromic congenital nail disorder 8 | ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACAT... | ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACAT... |
Task1_train_6790 | Here’s a variant in COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACAT... | ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACAT... |
Task1_train_6791 | Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Recessive dystrophic epidermolysis bullosa | ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACAT... | ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACAT... |
Task1_train_6792 | A sequence alteration has been identified in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin | ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACAT... | ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACAT... |
Task1_train_6793 | Assess the clinical impact of this variant on gene COL7A1 (collagen type VII alpha 1 chain), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Epidermolysis bullosa pruriginosa | ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACAT... | ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACAT... |
Task1_train_6794 | Given a variant located on Chromosome 3 and affecting COL7A1 (collagen type VII alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Epidermolysis bullosa dystrophica | CAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGG... | CAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGG... |
Task1_train_6795 | The variant affects gene COL7A1 (collagen type VII alpha 1 chain), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Recessive dystrophic epidermolysis bullosa | AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCT... | AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCT... |
Task1_train_6796 | Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Pretibial dystrophic epidermolysis bullosa | AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCT... | AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCT... |
Task1_train_6797 | With a mutation on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin | AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCT... | AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCT... |
Task1_train_6798 | A mutation on Chromosome 3 affecting COL7A1 (collagen type VII alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Transient bullous dermolysis of the newborn | AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCT... | AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCT... |
Task1_train_6799 | This genomic variant is located on Chromosome 3, within the COL7A1 (collagen type VII alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Nonsyndromic congenital nail disorder 8 | AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCT... | AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCT... |
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