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_22300 | This genomic variant is located on Chromosome 16, within the ALG1 (ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; ALG1-congenital disorder of glycosylation | GTGTCTATTTATGGCACCTATCCATGCTCTCTGTGTCATTACAGATAGTCTTACATTGTACTGACTGTGTATCAAGTGTTTTCCATGTATTAACTCATTTAGTCCTCACAGTTACCCTAAGAAATATTGCATGTAGGTAATACAAGAACCTGTTTCTTAAGGTTGTTCTCATTTAGATGAGAAAACCTAGACTGAGAAAGGCTCTGTAAGTAGCCCATCGCCATACAGCTAGGAAGTGGTGGAATCAGGATTTGAACGTAGGTCGTCAGTGTGGTTCTATAGTATACACACGCACGCATACGCGCGCACACACAAACACA... | GTGTCTATTTATGGCACCTATCCATGCTCTCTGTGTCATTACAGATAGTCTTACATTGTACTGACTGTGTATCAAGTGTTTTCCATGTATTAACTCATTTAGTCCTCACAGTTACCCTAAGAAATATTGCATGTAGGTAATACAAGAACCTGTTTCTTAAGGTTGTTCTCATTTAGATGAGAAAACCTAGACTGAGAAAGGCTCTGTAAGTAGCCCATCGCCATACAGCTAGGAAGTGGTGGAATCAGGATTTGAACGTAGGTCGTCAGTGTGGTTCTATAGTATACACACGCACGCATACGCGCGCACACACAAACACA... |
Task1_train_22301 | This is a variant in ALG1 (ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; ALG1-congenital disorder of glycosylation | GCTGGTCCTGCTCTCCTCCCTCCTCTGGCCTCTAGGCTCCCAGGAGTGGTTTGGAACCCGCGCCATATGCTCTGGGGGCTGTGCCAGGGCAGGAGGAGTCCTCGTGTCCCCTGTGCACAACACAGACAAAAGGCTGGGTCCACCCAGTGGGCGGTCGGGTGCCAGGCCAGTGCTTACCCCGCCATGTTTGCAGCCCGAGGCCAGCTGGCTGCAGGTGAAAGGCTATGCGTCAGGGGTCAGGGTGCACACACCCCTGCAGGTCTCAGGGCTCCTGGGTTGCTTCTGGAAGGGCCCGGATGGGGCCTGACTGGAGCTGCTGA... | GCTGGTCCTGCTCTCCTCCCTCCTCTGGCCTCTAGGCTCCCAGGAGTGGTTTGGAACCCGCGCCATATGCTCTGGGGGCTGTGCCAGGGCAGGAGGAGTCCTCGTGTCCCCTGTGCACAACACAGACAAAAGGCTGGGTCCACCCAGTGGGCGGTCGGGTGCCAGGCCAGTGCTTACCCCGCCATGTTTGCAGCCCGAGGCCAGCTGGCTGCAGGTGAAAGGCTATGCGTCAGGGGTCAGGGTGCACACACCCCTGCAGGTCTCAGGGCTCCTGGGTTGCTTCTGGAAGGGCCCGGATGGGGCCTGACTGGAGCTGCTGA... |
Task1_train_22302 | This sequence change occurs on Chromosome 16, altering ALG1 (ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; ALG1-congenital disorder of glycosylation | CCTCTGGCCTCTAGGCTCCCAGGAGTGGTTTGGAACCCGCGCCATATGCTCTGGGGGCTGTGCCAGGGCAGGAGGAGTCCTCGTGTCCCCTGTGCACAACACAGACAAAAGGCTGGGTCCACCCAGTGGGCGGTCGGGTGCCAGGCCAGTGCTTACCCCGCCATGTTTGCAGCCCGAGGCCAGCTGGCTGCAGGTGAAAGGCTATGCGTCAGGGGTCAGGGTGCACACACCCCTGCAGGTCTCAGGGCTCCTGGGTTGCTTCTGGAAGGGCCCGGATGGGGCCTGACTGGAGCTGCTGAGGGGTGGAGCTTCTGGGAAAG... | CCTCTGGCCTCTAGGCTCCCAGGAGTGGTTTGGAACCCGCGCCATATGCTCTGGGGGCTGTGCCAGGGCAGGAGGAGTCCTCGTGTCCCCTGTGCACAACACAGACAAAAGGCTGGGTCCACCCAGTGGGCGGTCGGGTGCCAGGCCAGTGCTTACCCCGCCATGTTTGCAGCCCGAGGCCAGCTGGCTGCAGGTGAAAGGCTATGCGTCAGGGGTCAGGGTGCACACACCCCTGCAGGTCTCAGGGCTCCTGGGTTGCTTCTGGAAGGGCCCGGATGGGGCCTGACTGGAGCTGCTGAGGGGTGGAGCTTCTGGGAAAG... |
Task1_train_22303 | A mutation on Chromosome 16 affecting ALG1 (ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not specified | GAACCCGCGCCATATGCTCTGGGGGCTGTGCCAGGGCAGGAGGAGTCCTCGTGTCCCCTGTGCACAACACAGACAAAAGGCTGGGTCCACCCAGTGGGCGGTCGGGTGCCAGGCCAGTGCTTACCCCGCCATGTTTGCAGCCCGAGGCCAGCTGGCTGCAGGTGAAAGGCTATGCGTCAGGGGTCAGGGTGCACACACCCCTGCAGGTCTCAGGGCTCCTGGGTTGCTTCTGGAAGGGCCCGGATGGGGCCTGACTGGAGCTGCTGAGGGGTGGAGCTTCTGGGAAAGGGATCCCTCCTAGGGGGGAGTGTCTTGGGCCT... | GAACCCGCGCCATATGCTCTGGGGGCTGTGCCAGGGCAGGAGGAGTCCTCGTGTCCCCTGTGCACAACACAGACAAAAGGCTGGGTCCACCCAGTGGGCGGTCGGGTGCCAGGCCAGTGCTTACCCCGCCATGTTTGCAGCCCGAGGCCAGCTGGCTGCAGGTGAAAGGCTATGCGTCAGGGGTCAGGGTGCACACACCCCTGCAGGTCTCAGGGCTCCTGGGTTGCTTCTGGAAGGGCCCGGATGGGGCCTGACTGGAGCTGCTGAGGGGTGGAGCTTCTGGGAAAGGGATCCCTCCTAGGGGGGAGTGTCTTGGGCCT... |
Task1_train_22304 | Gene ALG1 (ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; ALG1-congenital disorder of glycosylation | TCCCCTGTGCACAACACAGACAAAAGGCTGGGTCCACCCAGTGGGCGGTCGGGTGCCAGGCCAGTGCTTACCCCGCCATGTTTGCAGCCCGAGGCCAGCTGGCTGCAGGTGAAAGGCTATGCGTCAGGGGTCAGGGTGCACACACCCCTGCAGGTCTCAGGGCTCCTGGGTTGCTTCTGGAAGGGCCCGGATGGGGCCTGACTGGAGCTGCTGAGGGGTGGAGCTTCTGGGAAAGGGATCCCTCCTAGGGGGGAGTGTCTTGGGCCTGGGGCCACGTGGCAGGGACAGAGATGGGTCCATGGCAGTGTCTGCTCTTCTCT... | TCCCCTGTGCACAACACAGACAAAAGGCTGGGTCCACCCAGTGGGCGGTCGGGTGCCAGGCCAGTGCTTACCCCGCCATGTTTGCAGCCCGAGGCCAGCTGGCTGCAGGTGAAAGGCTATGCGTCAGGGGTCAGGGTGCACACACCCCTGCAGGTCTCAGGGCTCCTGGGTTGCTTCTGGAAGGGCCCGGATGGGGCCTGACTGGAGCTGCTGAGGGGTGGAGCTTCTGGGAAAGGGATCCCTCCTAGGGGGGAGTGTCTTGGGCCTGGGGCCACGTGGCAGGGACAGAGATGGGTCCATGGCAGTGTCTGCTCTTCTCT... |
Task1_train_22305 | Gene ABAT (4-aminobutyrate aminotransferase) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Gamma-aminobutyric acid transaminase deficiency | GCGTATGGTCTAGCCTGGAGAATATTCCATATGTACTTGAGAAGAATCTATATTCTGCTGTTGTTGGGCAGAGTGTTCTATAGATGTTTCTTAGGTCTGGTTGCTTTTAGAATATTGTTCAAGTCTTCTATTTCCTTGCTAATCTTCTCCCTAGTTGTCCTATCCATTATGGAGTGCCAGATGTTGACATCTCCAACTATTATTATAAAATTGTTTTTCCCTTTGATTCTGTTTTTGTCTGTGTATTCAGGGCTCTGTTTTTGGGTGCAAATATGTTTATAATTGTCATATCTTCTTAGTGGATTGACCCTTTATAATAT... | GCGTATGGTCTAGCCTGGAGAATATTCCATATGTACTTGAGAAGAATCTATATTCTGCTGTTGTTGGGCAGAGTGTTCTATAGATGTTTCTTAGGTCTGGTTGCTTTTAGAATATTGTTCAAGTCTTCTATTTCCTTGCTAATCTTCTCCCTAGTTGTCCTATCCATTATGGAGTGCCAGATGTTGACATCTCCAACTATTATTATAAAATTGTTTTTCCCTTTGATTCTGTTTTTGTCTGTGTATTCAGGGCTCTGTTTTTGGGTGCAAATATGTTTATAATTGTCATATCTTCTTAGTGGATTGACCCTTTATAATAT... |
Task1_train_22306 | Given a variant located on Chromosome 16 and affecting ABAT (4-aminobutyrate aminotransferase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Gamma-aminobutyric acid transaminase deficiency | TTCTGGGAGCCATTTCCCTGCTGCTAGTGAGGGCCAGCTTGCTTCCACCCTATTCTCATGATGTGATTTCTTAGGAGCCCCACTAACAGGTCAGAGCCAGAAGGAAATGTTCCTTAAAGTCCCCTCCAAGGTTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGTCCAAGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCTGTCTCTATAAAAAAATACAAAAAATTAGCTGGGTGCGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGTG... | TTCTGGGAGCCATTTCCCTGCTGCTAGTGAGGGCCAGCTTGCTTCCACCCTATTCTCATGATGTGATTTCTTAGGAGCCCCACTAACAGGTCAGAGCCAGAAGGAAATGTTCCTTAAAGTCCCCTCCAAGGTTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGTCCAAGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCTGTCTCTATAAAAAAATACAAAAAATTAGCTGGGTGCGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGTG... |
Task1_train_22307 | A change on Chromosome 16 affects gene ABAT (4-aminobutyrate aminotransferase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Gamma-aminobutyric acid transaminase deficiency | GCATCTCTGAGATTTTGTTCTGTTCTATTGTTTCAGAGCAAGGAAAGAGGGCAGAGGGGCTTCTCCCAGGAGGAGCTGGAGACGTGCATGATTAACCAGGTGAGTGCAGCTGGGCTTGCACCACGTACATCTGGGGAAGCTGCACAGCCTCTCCCGGGCTGTTGCTGGCTGGCTGGCACTGTCCTCAATTAGGAAGGGCCAGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCCAAGGTCAGGAGTTCAAGACCAGCCTGGCTAATATGGTGAAACCCCATCTCTAC... | GCATCTCTGAGATTTTGTTCTGTTCTATTGTTTCAGAGCAAGGAAAGAGGGCAGAGGGGCTTCTCCCAGGAGGAGCTGGAGACGTGCATGATTAACCAGGTGAGTGCAGCTGGGCTTGCACCACGTACATCTGGGGAAGCTGCACAGCCTCTCCCGGGCTGTTGCTGGCTGGCTGGCACTGTCCTCAATTAGGAAGGGCCAGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCCAAGGTCAGGAGTTCAAGACCAGCCTGGCTAATATGGTGAAACCCCATCTCTAC... |
Task1_train_22308 | This alteration occurs within gene ABAT (4-aminobutyrate aminotransferase) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Inborn genetic diseases | GCATCTCTGAGATTTTGTTCTGTTCTATTGTTTCAGAGCAAGGAAAGAGGGCAGAGGGGCTTCTCCCAGGAGGAGCTGGAGACGTGCATGATTAACCAGGTGAGTGCAGCTGGGCTTGCACCACGTACATCTGGGGAAGCTGCACAGCCTCTCCCGGGCTGTTGCTGGCTGGCTGGCACTGTCCTCAATTAGGAAGGGCCAGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCCAAGGTCAGGAGTTCAAGACCAGCCTGGCTAATATGGTGAAACCCCATCTCTAC... | GCATCTCTGAGATTTTGTTCTGTTCTATTGTTTCAGAGCAAGGAAAGAGGGCAGAGGGGCTTCTCCCAGGAGGAGCTGGAGACGTGCATGATTAACCAGGTGAGTGCAGCTGGGCTTGCACCACGTACATCTGGGGAAGCTGCACAGCCTCTCCCGGGCTGTTGCTGGCTGGCTGGCACTGTCCTCAATTAGGAAGGGCCAGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCCAAGGTCAGGAGTTCAAGACCAGCCTGGCTAATATGGTGAAACCCCATCTCTAC... |
Task1_train_22309 | A sequence alteration has been identified in ABAT (4-aminobutyrate aminotransferase) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; Gamma-aminobutyric acid transaminase deficiency | TGAGATTTTGTTCTGTTCTATTGTTTCAGAGCAAGGAAAGAGGGCAGAGGGGCTTCTCCCAGGAGGAGCTGGAGACGTGCATGATTAACCAGGTGAGTGCAGCTGGGCTTGCACCACGTACATCTGGGGAAGCTGCACAGCCTCTCCCGGGCTGTTGCTGGCTGGCTGGCACTGTCCTCAATTAGGAAGGGCCAGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCCAAGGTCAGGAGTTCAAGACCAGCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAAG... | TGAGATTTTGTTCTGTTCTATTGTTTCAGAGCAAGGAAAGAGGGCAGAGGGGCTTCTCCCAGGAGGAGCTGGAGACGTGCATGATTAACCAGGTGAGTGCAGCTGGGCTTGCACCACGTACATCTGGGGAAGCTGCACAGCCTCTCCCGGGCTGTTGCTGGCTGGCTGGCACTGTCCTCAATTAGGAAGGGCCAGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCCAAGGTCAGGAGTTCAAGACCAGCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAAG... |
Task1_train_22310 | A mutation in ABAT (4-aminobutyrate aminotransferase), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Gamma-aminobutyric acid transaminase deficiency | TGTTTCAGAGCAAGGAAAGAGGGCAGAGGGGCTTCTCCCAGGAGGAGCTGGAGACGTGCATGATTAACCAGGTGAGTGCAGCTGGGCTTGCACCACGTACATCTGGGGAAGCTGCACAGCCTCTCCCGGGCTGTTGCTGGCTGGCTGGCACTGTCCTCAATTAGGAAGGGCCAGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCCAAGGTCAGGAGTTCAAGACCAGCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAAGACAAAAATTACCCGGGCATAG... | TGTTTCAGAGCAAGGAAAGAGGGCAGAGGGGCTTCTCCCAGGAGGAGCTGGAGACGTGCATGATTAACCAGGTGAGTGCAGCTGGGCTTGCACCACGTACATCTGGGGAAGCTGCACAGCCTCTCCCGGGCTGTTGCTGGCTGGCTGGCACTGTCCTCAATTAGGAAGGGCCAGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCCAAGGTCAGGAGTTCAAGACCAGCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAAGACAAAAATTACCCGGGCATAG... |
Task1_train_22311 | A variant affecting Chromosome 16, within the gene ABAT (4-aminobutyrate aminotransferase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Gamma-aminobutyric acid transaminase deficiency | TTTTCCTCCACACAACACACATGTGCACAGCTGGGCTTTGAACCCAGGCCTGAATGTCCCCAGAGCTCTTAACCCCCTGGAGGTCCTGCCAGTCCATGCAGAGGCCGAGGCTGGACCATGGGAGGCCTTTGACGAAGCACAGCCATTAAGCCCAGCTGGTACACAGGTGATGGGCTTTGACGCCAGCCTTGTCTCCTCCCACTACAGGCCCGGTACCCCCAGTTCATCAGCAGGGTGAGAGGACGAGGCACCTTTTGCTCCTTCGATACTCCCGATGATTCCATACGGAATAAGCTCATTTTAATTGCCAGAAACAAAGG... | TTTTCCTCCACACAACACACATGTGCACAGCTGGGCTTTGAACCCAGGCCTGAATGTCCCCAGAGCTCTTAACCCCCTGGAGGTCCTGCCAGTCCATGCAGAGGCCGAGGCTGGACCATGGGAGGCCTTTGACGAAGCACAGCCATTAAGCCCAGCTGGTACACAGGTGATGGGCTTTGACGCCAGCCTTGTCTCCTCCCACTACAGGCCCGGTACCCCCAGTTCATCAGCAGGGTGAGAGGACGAGGCACCTTTTGCTCCTTCGATACTCCCGATGATTCCATACGGAATAAGCTCATTTTAATTGCCAGAAACAAAGG... |
Task1_train_22312 | This mutation occurs in ABAT (4-aminobutyrate aminotransferase) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Gamma-aminobutyric acid transaminase deficiency | AACCCAGGCCTGAATGTCCCCAGAGCTCTTAACCCCCTGGAGGTCCTGCCAGTCCATGCAGAGGCCGAGGCTGGACCATGGGAGGCCTTTGACGAAGCACAGCCATTAAGCCCAGCTGGTACACAGGTGATGGGCTTTGACGCCAGCCTTGTCTCCTCCCACTACAGGCCCGGTACCCCCAGTTCATCAGCAGGGTGAGAGGACGAGGCACCTTTTGCTCCTTCGATACTCCCGATGATTCCATACGGAATAAGCTCATTTTAATTGCCAGAAACAAAGGTAAGGGGTCAGGAGTGGCTGCTGAGTTTCATGAGCATCCA... | AACCCAGGCCTGAATGTCCCCAGAGCTCTTAACCCCCTGGAGGTCCTGCCAGTCCATGCAGAGGCCGAGGCTGGACCATGGGAGGCCTTTGACGAAGCACAGCCATTAAGCCCAGCTGGTACACAGGTGATGGGCTTTGACGCCAGCCTTGTCTCCTCCCACTACAGGCCCGGTACCCCCAGTTCATCAGCAGGGTGAGAGGACGAGGCACCTTTTGCTCCTTCGATACTCCCGATGATTCCATACGGAATAAGCTCATTTTAATTGCCAGAAACAAAGGTAAGGGGTCAGGAGTGGCTGCTGAGTTTCATGAGCATCCA... |
Task1_train_22313 | Located on Chromosome 16, this mutation impacts ABAT (4-aminobutyrate aminotransferase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Gamma-aminobutyric acid transaminase deficiency | CTTAACCCCCTGGAGGTCCTGCCAGTCCATGCAGAGGCCGAGGCTGGACCATGGGAGGCCTTTGACGAAGCACAGCCATTAAGCCCAGCTGGTACACAGGTGATGGGCTTTGACGCCAGCCTTGTCTCCTCCCACTACAGGCCCGGTACCCCCAGTTCATCAGCAGGGTGAGAGGACGAGGCACCTTTTGCTCCTTCGATACTCCCGATGATTCCATACGGAATAAGCTCATTTTAATTGCCAGAAACAAAGGTAAGGGGTCAGGAGTGGCTGCTGAGTTTCATGAGCATCCAGTATCTCCTGCTGTAGCTGCCACATGT... | CTTAACCCCCTGGAGGTCCTGCCAGTCCATGCAGAGGCCGAGGCTGGACCATGGGAGGCCTTTGACGAAGCACAGCCATTAAGCCCAGCTGGTACACAGGTGATGGGCTTTGACGCCAGCCTTGTCTCCTCCCACTACAGGCCCGGTACCCCCAGTTCATCAGCAGGGTGAGAGGACGAGGCACCTTTTGCTCCTTCGATACTCCCGATGATTCCATACGGAATAAGCTCATTTTAATTGCCAGAAACAAAGGTAAGGGGTCAGGAGTGGCTGCTGAGTTTCATGAGCATCCAGTATCTCCTGCTGTAGCTGCCACATGT... |
Task1_train_22314 | Here’s a variant in PMM2 (phosphomannomutase 2) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; PMM2-congenital disorder of glycosylation | AGCCTTCCTGTTAATCCAGGCGACCCAGGGTTACCCAGAGGTCCAGGTCCCAGTTGTTCACTTGAGCATCTGATGTACCCCAAACACCTGTGTGAAACGCTCTCTGTCCAGGATGCGTCCATAGCGCAGGGTGACGTAGAAGGTCTGTTTCCCACTGTACCGCTGGATACGCACAAACATCTCCTGAGGCCGGTCCTTGGTTTCTGTCAGGGGAATCACATCTGCCATGGGACAGTATGTGTCCTGCCGCCAGCCCCAGAAGTTCAGATGGGCCACCCGCAGCATGGTGCCAGACTCATTCAGATACAGGATACCAACCA... | AGCCTTCCTGTTAATCCAGGCGACCCAGGGTTACCCAGAGGTCCAGGTCCCAGTTGTTCACTTGAGCATCTGATGTACCCCAAACACCTGTGTGAAACGCTCTCTGTCCAGGATGCGTCCATAGCGCAGGGTGACGTAGAAGGTCTGTTTCCCACTGTACCGCTGGATACGCACAAACATCTCCTGAGGCCGGTCCTTGGTTTCTGTCAGGGGAATCACATCTGCCATGGGACAGTATGTGTCCTGCCGCCAGCCCCAGAAGTTCAGATGGGCCACCCGCAGCATGGTGCCAGACTCATTCAGATACAGGATACCAACCA... |
Task1_train_22315 | Gene PMM2 (phosphomannomutase 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; PMM2-congenital disorder of glycosylation | CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTTCTGACTTTTAAAGGCCACTCCTCCAATTCTAGATTCTGTCTAATAGGTCCAGATTCCACTGTGAGAGTAGAAAAGATTGCACTCTATTACAAACCCTTCTGTACAATTTTAATCACATTCATGTATTACTCTAAAAAAGTTTTTTAAAGAAAAATCATTGAACTCCAAGTGTTTATATACTGAGGTTGAATTAAATGGTTTTTTGTATTTTCTAAATTTCTAGTAAAAAGATATTCAGCCGGGCACGGTAGTTCATGC... | CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTTCTGACTTTTAAAGGCCACTCCTCCAATTCTAGATTCTGTCTAATAGGTCCAGATTCCACTGTGAGAGTAGAAAAGATTGCACTCTATTACAAACCCTTCTGTACAATTTTAATCACATTCATGTATTACTCTAAAAAAGTTTTTTAAAGAAAAATCATTGAACTCCAAGTGTTTATATACTGAGGTTGAATTAAATGGTTTTTTGTATTTTCTAAATTTCTAGTAAAAAGATATTCAGCCGGGCACGGTAGTTCATGC... |
Task1_train_22316 | Chromosome 16 houses a mutation in gene PMM2 (phosphomannomutase 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; PMM2-congenital disorder of glycosylation | GGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCAATAAGAACGAAACTCCGTCTTGGAAAAAAAAAAAAATTATAAGTGGAGAGGTGGATGAATTGATTGTTCTTTTAACCCCTGTTGTCCCCAGAGTCCTCACATCTTGGAACCAGCTCCTCTAGAGCAAGATTTCTCACCTTCGCACTATTGATATTTTGGACCAGTTAGTTCTCCATTATGAAGGCTGTCCTGTGCATTGTAGGGTCTTTAGCAACATCCCAGGCCTCTACCCACTAGATGCCC... | GGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCAATAAGAACGAAACTCCGTCTTGGAAAAAAAAAAAAATTATAAGTGGAGAGGTGGATGAATTGATTGTTCTTTTAACCCCTGTTGTCCCCAGAGTCCTCACATCTTGGAACCAGCTCCTCTAGAGCAAGATTTCTCACCTTCGCACTATTGATATTTTGGACCAGTTAGTTCTCCATTATGAAGGCTGTCCTGTGCATTGTAGGGTCTTTAGCAACATCCCAGGCCTCTACCCACTAGATGCCC... |
Task1_train_22317 | This mutation is located in gene PMM2 (phosphomannomutase 2) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; PMM2-congenital disorder of glycosylation | TACAGGTGTGAGCCACACCGCACCCGACCCAAAGAGCTTTTTTAAAAATATATTTAGCCTGTCCCTCAGCAATTCTGATTCAGGAAGCGAGAGAGCAAAGCTTGGAAATCTGCATTTTCACACTGCCCTGGTTGCTGCTGGTGAACCATCAGCATCATGGACGAGTATCTTCCTCTACAGACAGTCAGGCTGAAGTCAGGGACATAAGATAACCTGTCACCAAGTCCCTAATCTCCTGCCCAGTCATCATCGTTTAAATGTGTAACCAAAAAGAGCCATTAAAAAAACAAGGAACTTTTTTCCATACTCTTCTCTTAGTC... | TACAGGTGTGAGCCACACCGCACCCGACCCAAAGAGCTTTTTTAAAAATATATTTAGCCTGTCCCTCAGCAATTCTGATTCAGGAAGCGAGAGAGCAAAGCTTGGAAATCTGCATTTTCACACTGCCCTGGTTGCTGCTGGTGAACCATCAGCATCATGGACGAGTATCTTCCTCTACAGACAGTCAGGCTGAAGTCAGGGACATAAGATAACCTGTCACCAAGTCCCTAATCTCCTGCCCAGTCATCATCGTTTAAATGTGTAACCAAAAAGAGCCATTAAAAAAACAAGGAACTTTTTTCCATACTCTTCTCTTAGTC... |
Task1_train_22318 | This sequence change occurs on Chromosome 16, altering PMM2 (phosphomannomutase 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; PMM2-congenital disorder of glycosylation | GTGAGCCACACCGCACCCGACCCAAAGAGCTTTTTTAAAAATATATTTAGCCTGTCCCTCAGCAATTCTGATTCAGGAAGCGAGAGAGCAAAGCTTGGAAATCTGCATTTTCACACTGCCCTGGTTGCTGCTGGTGAACCATCAGCATCATGGACGAGTATCTTCCTCTACAGACAGTCAGGCTGAAGTCAGGGACATAAGATAACCTGTCACCAAGTCCCTAATCTCCTGCCCAGTCATCATCGTTTAAATGTGTAACCAAAAAGAGCCATTAAAAAAACAAGGAACTTTTTTCCATACTCTTCTCTTAGTCTGTAAGA... | GTGAGCCACACCGCACCCGACCCAAAGAGCTTTTTTAAAAATATATTTAGCCTGTCCCTCAGCAATTCTGATTCAGGAAGCGAGAGAGCAAAGCTTGGAAATCTGCATTTTCACACTGCCCTGGTTGCTGCTGGTGAACCATCAGCATCATGGACGAGTATCTTCCTCTACAGACAGTCAGGCTGAAGTCAGGGACATAAGATAACCTGTCACCAAGTCCCTAATCTCCTGCCCAGTCATCATCGTTTAAATGTGTAACCAAAAAGAGCCATTAAAAAAACAAGGAACTTTTTTCCATACTCTTCTCTTAGTCTGTAAGA... |
Task1_train_22319 | This variant affects gene PMM2 (phosphomannomutase 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; PMM2-congenital disorder of glycosylation | GCTTTTTTAAAAATATATTTAGCCTGTCCCTCAGCAATTCTGATTCAGGAAGCGAGAGAGCAAAGCTTGGAAATCTGCATTTTCACACTGCCCTGGTTGCTGCTGGTGAACCATCAGCATCATGGACGAGTATCTTCCTCTACAGACAGTCAGGCTGAAGTCAGGGACATAAGATAACCTGTCACCAAGTCCCTAATCTCCTGCCCAGTCATCATCGTTTAAATGTGTAACCAAAAAGAGCCATTAAAAAAACAAGGAACTTTTTTCCATACTCTTCTCTTAGTCTGTAAGATGAGATAGTCTTTCACAGTCCTTGCTGG... | GCTTTTTTAAAAATATATTTAGCCTGTCCCTCAGCAATTCTGATTCAGGAAGCGAGAGAGCAAAGCTTGGAAATCTGCATTTTCACACTGCCCTGGTTGCTGCTGGTGAACCATCAGCATCATGGACGAGTATCTTCCTCTACAGACAGTCAGGCTGAAGTCAGGGACATAAGATAACCTGTCACCAAGTCCCTAATCTCCTGCCCAGTCATCATCGTTTAAATGTGTAACCAAAAAGAGCCATTAAAAAAACAAGGAACTTTTTTCCATACTCTTCTCTTAGTCTGTAAGATGAGATAGTCTTTCACAGTCCTTGCTGG... |
Task1_train_22320 | Mutation context: Chromosome 16, Gene PMM2 (phosphomannomutase 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; PMM2-congenital disorder of glycosylation | GGCATGTTTGATTTTTAACAAGGCCCTTTGGAGGTAACCAGAGCAAGTGCCATTAGCCTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGTCAGAAAATGC... | GGCATGTTTGATTTTTAACAAGGCCCTTTGGAGGTAACCAGAGCAAGTGCCATTAGCCTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGTCAGAAAATGC... |
Task1_train_22321 | Here is a variant affecting PMM2 (phosphomannomutase 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Inborn genetic diseases | CATGTTTGATTTTTAACAAGGCCCTTTGGAGGTAACCAGAGCAAGTGCCATTAGCCTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGTCAGAAAATGCTT... | CATGTTTGATTTTTAACAAGGCCCTTTGGAGGTAACCAGAGCAAGTGCCATTAGCCTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGTCAGAAAATGCTT... |
Task1_train_22322 | The gene PMM2 (phosphomannomutase 2) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; PMM2-congenital disorder of glycosylation | CATGTTTGATTTTTAACAAGGCCCTTTGGAGGTAACCAGAGCAAGTGCCATTAGCCTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGTCAGAAAATGCTT... | CATGTTTGATTTTTAACAAGGCCCTTTGGAGGTAACCAGAGCAAGTGCCATTAGCCTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGTCAGAAAATGCTT... |
Task1_train_22323 | This is a variant in PMM2 (phosphomannomutase 2), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; PMM2-congenital disorder of glycosylation | GAGGTAACCAGAGCAAGTGCCATTAGCCTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGTCAGAAAATGCTTAAATTTCATTGGTCAGAATGATATCTAG... | GAGGTAACCAGAGCAAGTGCCATTAGCCTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGTCAGAAAATGCTTAAATTTCATTGGTCAGAATGATATCTAG... |
Task1_train_22324 | A variant found in Chromosome 16 affects PMM2 (phosphomannomutase 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; PMM2-congenital disorder of glycosylation | AGAGCAAGTGCCATTAGCCTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGTCAGAAAATGCTTAAATTTCATTGGTCAGAATGATATCTAGCTTACAAGT... | AGAGCAAGTGCCATTAGCCTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGTCAGAAAATGCTTAAATTTCATTGGTCAGAATGATATCTAGCTTACAAGT... |
Task1_train_22325 | Here is a variant affecting PMM2 (phosphomannomutase 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; PMM2-congenital disorder of glycosylation | GAGCAAGTGCCATTAGCCTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGTCAGAAAATGCTTAAATTTCATTGGTCAGAATGATATCTAGCTTACAAGTT... | GAGCAAGTGCCATTAGCCTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGTCAGAAAATGCTTAAATTTCATTGGTCAGAATGATATCTAGCTTACAAGTT... |
Task1_train_22326 | Given this variant in gene PMM2 (phosphomannomutase 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; PMM2-congenital disorder of glycosylation | GACCACACTAGCCTCTGCTTTTTAGAATTTCCCAAGATTTTAGGCTGTTTATCTATGTTGCCCAAATGAATAACGTGTTTTTGGAGAAACTCTGTCACCCTTTCATTCCCAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAGTACGTCTTTCTGAAATATCTTTGGTGAATGGCTGGGTTTATGGAAATAAGATATGGCCTGGTGTGGTGGTTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGGC... | GACCACACTAGCCTCTGCTTTTTAGAATTTCCCAAGATTTTAGGCTGTTTATCTATGTTGCCCAAATGAATAACGTGTTTTTGGAGAAACTCTGTCACCCTTTCATTCCCAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAGTACGTCTTTCTGAAATATCTTTGGTGAATGGCTGGGTTTATGGAAATAAGATATGGCCTGGTGTGGTGGTTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGGC... |
Task1_train_22327 | This variant impacts the gene PMM2 (phosphomannomutase 2) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; PMM2-congenital disorder of glycosylation | TAGCCTCTGCTTTTTAGAATTTCCCAAGATTTTAGGCTGTTTATCTATGTTGCCCAAATGAATAACGTGTTTTTGGAGAAACTCTGTCACCCTTTCATTCCCAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAGTACGTCTTTCTGAAATATCTTTGGTGAATGGCTGGGTTTATGGAAATAAGATATGGCCTGGTGTGGTGGTTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGAT... | TAGCCTCTGCTTTTTAGAATTTCCCAAGATTTTAGGCTGTTTATCTATGTTGCCCAAATGAATAACGTGTTTTTGGAGAAACTCTGTCACCCTTTCATTCCCAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAGTACGTCTTTCTGAAATATCTTTGGTGAATGGCTGGGTTTATGGAAATAAGATATGGCCTGGTGTGGTGGTTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGAT... |
Task1_train_22328 | Here’s a variant in PMM2 (phosphomannomutase 2) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; PMM2-congenital disorder of glycosylation | GGATTACAGGTGCGCACCACCACACCCAGCTAGGTTGTGCCTTTGTTAGGTTCTCTGTGACTTTTACCCACTGTGCCATTCCTGAAAGAAATCTTTTTTTTTTTTTTTTTAATTAGAAGAATTACTGGAACTAGCTTGGCACTGTTGGACACAGTCTTTGTCTCAGCTACTCGAGAGGCTGAGGCAGGAGGTTCGCTCGAGCCCAGCCTGGGCAACATAGCAAGACCCTATGTCCGAAGGAAAAAAAAGGCAAAATCAGAATTACCAGAACTGATTTCACATGTGTAGGTAGCAGATGGTGGCCATGCAATTCAGGTCTG... | GGATTACAGGTGCGCACCACCACACCCAGCTAGGTTGTGCCTTTGTTAGGTTCTCTGTGACTTTTACCCACTGTGCCATTCCTGAAAGAAATCTTTTTTTTTTTTTTTTTAATTAGAAGAATTACTGGAACTAGCTTGGCACTGTTGGACACAGTCTTTGTCTCAGCTACTCGAGAGGCTGAGGCAGGAGGTTCGCTCGAGCCCAGCCTGGGCAACATAGCAAGACCCTATGTCCGAAGGAAAAAAAAGGCAAAATCAGAATTACCAGAACTGATTTCACATGTGTAGGTAGCAGATGGTGGCCATGCAATTCAGGTCTG... |
Task1_train_22329 | Gene PMM2 (phosphomannomutase 2), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; PMM2-congenital disorder of glycosylation | ATTACAGGTGCGCACCACCACACCCAGCTAGGTTGTGCCTTTGTTAGGTTCTCTGTGACTTTTACCCACTGTGCCATTCCTGAAAGAAATCTTTTTTTTTTTTTTTTTAATTAGAAGAATTACTGGAACTAGCTTGGCACTGTTGGACACAGTCTTTGTCTCAGCTACTCGAGAGGCTGAGGCAGGAGGTTCGCTCGAGCCCAGCCTGGGCAACATAGCAAGACCCTATGTCCGAAGGAAAAAAAAGGCAAAATCAGAATTACCAGAACTGATTTCACATGTGTAGGTAGCAGATGGTGGCCATGCAATTCAGGTCTGTC... | ATTACAGGTGCGCACCACCACACCCAGCTAGGTTGTGCCTTTGTTAGGTTCTCTGTGACTTTTACCCACTGTGCCATTCCTGAAAGAAATCTTTTTTTTTTTTTTTTTAATTAGAAGAATTACTGGAACTAGCTTGGCACTGTTGGACACAGTCTTTGTCTCAGCTACTCGAGAGGCTGAGGCAGGAGGTTCGCTCGAGCCCAGCCTGGGCAACATAGCAAGACCCTATGTCCGAAGGAAAAAAAAGGCAAAATCAGAATTACCAGAACTGATTTCACATGTGTAGGTAGCAGATGGTGGCCATGCAATTCAGGTCTGTC... |
Task1_train_22330 | Mutation context: Chromosome 16, Gene PMM2 (phosphomannomutase 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; PMM2-congenital disorder of glycosylation | CCCAGCTAGGTTGTGCCTTTGTTAGGTTCTCTGTGACTTTTACCCACTGTGCCATTCCTGAAAGAAATCTTTTTTTTTTTTTTTTTAATTAGAAGAATTACTGGAACTAGCTTGGCACTGTTGGACACAGTCTTTGTCTCAGCTACTCGAGAGGCTGAGGCAGGAGGTTCGCTCGAGCCCAGCCTGGGCAACATAGCAAGACCCTATGTCCGAAGGAAAAAAAAGGCAAAATCAGAATTACCAGAACTGATTTCACATGTGTAGGTAGCAGATGGTGGCCATGCAATTCAGGTCTGTCTGAAGGCCCCCAGGCCTGGTAC... | CCCAGCTAGGTTGTGCCTTTGTTAGGTTCTCTGTGACTTTTACCCACTGTGCCATTCCTGAAAGAAATCTTTTTTTTTTTTTTTTTAATTAGAAGAATTACTGGAACTAGCTTGGCACTGTTGGACACAGTCTTTGTCTCAGCTACTCGAGAGGCTGAGGCAGGAGGTTCGCTCGAGCCCAGCCTGGGCAACATAGCAAGACCCTATGTCCGAAGGAAAAAAAAGGCAAAATCAGAATTACCAGAACTGATTTCACATGTGTAGGTAGCAGATGGTGGCCATGCAATTCAGGTCTGTCTGAAGGCCCCCAGGCCTGGTAC... |
Task1_train_22331 | This variant affects the gene PMM2 (phosphomannomutase 2) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; PMM2-congenital disorder of glycosylation | GGTTCTCTGTGACTTTTACCCACTGTGCCATTCCTGAAAGAAATCTTTTTTTTTTTTTTTTTAATTAGAAGAATTACTGGAACTAGCTTGGCACTGTTGGACACAGTCTTTGTCTCAGCTACTCGAGAGGCTGAGGCAGGAGGTTCGCTCGAGCCCAGCCTGGGCAACATAGCAAGACCCTATGTCCGAAGGAAAAAAAAGGCAAAATCAGAATTACCAGAACTGATTTCACATGTGTAGGTAGCAGATGGTGGCCATGCAATTCAGGTCTGTCTGAAGGCCCCCAGGCCTGGTACAAAACTGTGTAAGGCCAGTACAAG... | GGTTCTCTGTGACTTTTACCCACTGTGCCATTCCTGAAAGAAATCTTTTTTTTTTTTTTTTTAATTAGAAGAATTACTGGAACTAGCTTGGCACTGTTGGACACAGTCTTTGTCTCAGCTACTCGAGAGGCTGAGGCAGGAGGTTCGCTCGAGCCCAGCCTGGGCAACATAGCAAGACCCTATGTCCGAAGGAAAAAAAAGGCAAAATCAGAATTACCAGAACTGATTTCACATGTGTAGGTAGCAGATGGTGGCCATGCAATTCAGGTCTGTCTGAAGGCCCCCAGGCCTGGTACAAAACTGTGTAAGGCCAGTACAAG... |
Task1_train_22332 | A mutation on Chromosome 16 affecting PMM2 (phosphomannomutase 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Inborn genetic diseases | TGTGACTTTTACCCACTGTGCCATTCCTGAAAGAAATCTTTTTTTTTTTTTTTTTAATTAGAAGAATTACTGGAACTAGCTTGGCACTGTTGGACACAGTCTTTGTCTCAGCTACTCGAGAGGCTGAGGCAGGAGGTTCGCTCGAGCCCAGCCTGGGCAACATAGCAAGACCCTATGTCCGAAGGAAAAAAAAGGCAAAATCAGAATTACCAGAACTGATTTCACATGTGTAGGTAGCAGATGGTGGCCATGCAATTCAGGTCTGTCTGAAGGCCCCCAGGCCTGGTACAAAACTGTGTAAGGCCAGTACAAGGCCCTGA... | TGTGACTTTTACCCACTGTGCCATTCCTGAAAGAAATCTTTTTTTTTTTTTTTTTAATTAGAAGAATTACTGGAACTAGCTTGGCACTGTTGGACACAGTCTTTGTCTCAGCTACTCGAGAGGCTGAGGCAGGAGGTTCGCTCGAGCCCAGCCTGGGCAACATAGCAAGACCCTATGTCCGAAGGAAAAAAAAGGCAAAATCAGAATTACCAGAACTGATTTCACATGTGTAGGTAGCAGATGGTGGCCATGCAATTCAGGTCTGTCTGAAGGCCCCCAGGCCTGGTACAAAACTGTGTAAGGCCAGTACAAGGCCCTGA... |
Task1_train_22333 | Given this variant in gene PMM2 (phosphomannomutase 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; PMM2-congenital disorder of glycosylation | TGTGACTTTTACCCACTGTGCCATTCCTGAAAGAAATCTTTTTTTTTTTTTTTTTAATTAGAAGAATTACTGGAACTAGCTTGGCACTGTTGGACACAGTCTTTGTCTCAGCTACTCGAGAGGCTGAGGCAGGAGGTTCGCTCGAGCCCAGCCTGGGCAACATAGCAAGACCCTATGTCCGAAGGAAAAAAAAGGCAAAATCAGAATTACCAGAACTGATTTCACATGTGTAGGTAGCAGATGGTGGCCATGCAATTCAGGTCTGTCTGAAGGCCCCCAGGCCTGGTACAAAACTGTGTAAGGCCAGTACAAGGCCCTGA... | TGTGACTTTTACCCACTGTGCCATTCCTGAAAGAAATCTTTTTTTTTTTTTTTTTAATTAGAAGAATTACTGGAACTAGCTTGGCACTGTTGGACACAGTCTTTGTCTCAGCTACTCGAGAGGCTGAGGCAGGAGGTTCGCTCGAGCCCAGCCTGGGCAACATAGCAAGACCCTATGTCCGAAGGAAAAAAAAGGCAAAATCAGAATTACCAGAACTGATTTCACATGTGTAGGTAGCAGATGGTGGCCATGCAATTCAGGTCTGTCTGAAGGCCCCCAGGCCTGGTACAAAACTGTGTAAGGCCAGTACAAGGCCCTGA... |
Task1_train_22334 | A variant was discovered in gene USP7 (ubiquitin specific peptidase 7), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hao-Fountain syndrome | AAATGACTTTGTTAACTTTTTTGTTCCTACAGGTTTATCACTATGCTGTAATTCATAGAACACTCTTTGTAATGCTAAAGGGACGCTTTTAGACGAATCATCCCCCTCGGTTGGCATCATGTACACAGCCTGAAACAATTAAGAAATAAGAATTTTTACTCTGAGAAGATGCAGGGGAATTTAAAAAACAGTAAGAATTTAATCTTCATGTTTAAAAAAATCATTTCTAATAACACAATGGCTAAGGTTGTTGTTAGGGCTTTTAACGATCCCCAAATTGGTGAGAAAGTTTACAAAATCATGAACGTCTTTAGGGATAC... | AAATGACTTTGTTAACTTTTTTGTTCCTACAGGTTTATCACTATGCTGTAATTCATAGAACACTCTTTGTAATGCTAAAGGGACGCTTTTAGACGAATCATCCCCCTCGGTTGGCATCATGTACACAGCCTGAAACAATTAAGAAATAAGAATTTTTACTCTGAGAAGATGCAGGGGAATTTAAAAAACAGTAAGAATTTAATCTTCATGTTTAAAAAAATCATTTCTAATAACACAATGGCTAAGGTTGTTGTTAGGGCTTTTAACGATCCCCAAATTGGTGAGAAAGTTTACAAAATCATGAACGTCTTTAGGGATAC... |
Task1_train_22335 | Given a variant located on Chromosome 16 and affecting GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Landau-Kleffner syndrome | ACCTTTATTGACCAATTTACCTGTGATGTTCAGTGTTTTGTTGTAATGCTGGAAATAAGACTCCTGTTTGCTGAATAGTTCATCCCCTGTAAGGGTGATTATCCACCCCTGTGATAGGCAAAACATTTGGCCCCAATTCTTCAGCATACTCTCAGTGTCCACACTATTGCCATAAAACTTCAAGACCTATCTCATGAAAGGCAGAGTATACCTGCAATCCCTTGACCCTGAACTTGGCCACCTGACCTGCTTTGGACAGAAGGATGTTAGCAGACGTGAACGTGACCAAGCAGTGGCTTGAAATGTGCATGTGCAGCTAG... | ACCTTTATTGACCAATTTACCTGTGATGTTCAGTGTTTTGTTGTAATGCTGGAAATAAGACTCCTGTTTGCTGAATAGTTCATCCCCTGTAAGGGTGATTATCCACCCCTGTGATAGGCAAAACATTTGGCCCCAATTCTTCAGCATACTCTCAGTGTCCACACTATTGCCATAAAACTTCAAGACCTATCTCATGAAAGGCAGAGTATACCTGCAATCCCTTGACCCTGAACTTGGCCACCTGACCTGCTTTGGACAGAAGGATGTTAGCAGACGTGAACGTGACCAAGCAGTGGCTTGAAATGTGCATGTGCAGCTAG... |
Task1_train_22336 | This variant affects gene GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Self-limited epilepsy with centrotemporal spikes | TAAGGGTGATTATCCACCCCTGTGATAGGCAAAACATTTGGCCCCAATTCTTCAGCATACTCTCAGTGTCCACACTATTGCCATAAAACTTCAAGACCTATCTCATGAAAGGCAGAGTATACCTGCAATCCCTTGACCCTGAACTTGGCCACCTGACCTGCTTTGGACAGAAGGATGTTAGCAGACGTGAACGTGACCAAGCAGTGGCTTGAAATGTGCATGTGCAGCTAGGCGTTCCTTTCTGTGCTTCTGCCATGGCCAGGAAAAGAGCTTCCCCAGGTAGCTGCTACCTTTTCAGCCCGAGACACAGCAGAAACACG... | TAAGGGTGATTATCCACCCCTGTGATAGGCAAAACATTTGGCCCCAATTCTTCAGCATACTCTCAGTGTCCACACTATTGCCATAAAACTTCAAGACCTATCTCATGAAAGGCAGAGTATACCTGCAATCCCTTGACCCTGAACTTGGCCACCTGACCTGCTTTGGACAGAAGGATGTTAGCAGACGTGAACGTGACCAAGCAGTGGCTTGAAATGTGCATGTGCAGCTAGGCGTTCCTTTCTGTGCTTCTGCCATGGCCAGGAAAAGAGCTTCCCCAGGTAGCTGCTACCTTTTCAGCCCGAGACACAGCAGAAACACG... |
Task1_train_22337 | This alteration occurs within gene GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Landau-Kleffner syndrome | ATCCACCCCTGTGATAGGCAAAACATTTGGCCCCAATTCTTCAGCATACTCTCAGTGTCCACACTATTGCCATAAAACTTCAAGACCTATCTCATGAAAGGCAGAGTATACCTGCAATCCCTTGACCCTGAACTTGGCCACCTGACCTGCTTTGGACAGAAGGATGTTAGCAGACGTGAACGTGACCAAGCAGTGGCTTGAAATGTGCATGTGCAGCTAGGCGTTCCTTTCTGTGCTTCTGCCATGGCCAGGAAAAGAGCTTCCCCAGGTAGCTGCTACCTTTTCAGCCCGAGACACAGCAGAAACACGTGTGGAGCAGA... | ATCCACCCCTGTGATAGGCAAAACATTTGGCCCCAATTCTTCAGCATACTCTCAGTGTCCACACTATTGCCATAAAACTTCAAGACCTATCTCATGAAAGGCAGAGTATACCTGCAATCCCTTGACCCTGAACTTGGCCACCTGACCTGCTTTGGACAGAAGGATGTTAGCAGACGTGAACGTGACCAAGCAGTGGCTTGAAATGTGCATGTGCAGCTAGGCGTTCCTTTCTGTGCTTCTGCCATGGCCAGGAAAAGAGCTTCCCCAGGTAGCTGCTACCTTTTCAGCCCGAGACACAGCAGAAACACGTGTGGAGCAGA... |
Task1_train_22338 | This variant affects the gene GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | AAACAAAAATCCCAAACCCATGGCTAAACTGTAAAGTCATCAACAATTGGTCTTTTCAGGTATCTGTGAAAGTGGAAGACACAAATATTCTATGGCTCAGCAGTTGCAGTCTTCGGTGTATACCAACAGAAATGCGCTCACTCATTAACAAAAGAAGCATTATTCATAATGGCCCCAAAATAGGACATTACCCAAATGTCCATCAAGATTAGGACAGAGACATCCATGTGTGCTGCATTCCAGCAATGAGAATGAAAGCACTGAAATTACATGCAACAATCTTGCAAACACAATGTTGAGCCAAAGACGACAAAAAAGAA... | AAACAAAAATCCCAAACCCATGGCTAAACTGTAAAGTCATCAACAATTGGTCTTTTCAGGTATCTGTGAAAGTGGAAGACACAAATATTCTATGGCTCAGCAGTTGCAGTCTTCGGTGTATACCAACAGAAATGCGCTCACTCATTAACAAAAGAAGCATTATTCATAATGGCCCCAAAATAGGACATTACCCAAATGTCCATCAAGATTAGGACAGAGACATCCATGTGTGCTGCATTCCAGCAATGAGAATGAAAGCACTGAAATTACATGCAACAATCTTGCAAACACAATGTTGAGCCAAAGACGACAAAAAAGAA... |
Task1_train_22339 | Gene GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | AAAGACTGGAGAAGGGGGAGAAATCAAGGGTCTGATTTAAGGCCAAGTCTCCATCTCAGTCCCGTCCTGCAGGGAGCTCCAGAGAGTGATTCGTACCTTAAAGTTTTTCCTGCTTCGAAGCAAGGGAGCAGCTTAGCCTTTGTATTCTCACACAGATTAGTCTTTGGTTACAGGTGACCACAAAGATTGAGGGAACTTAAATTGCCAGGCATTTACCATTCCAGTGCCCAAAGGCAAAAATCTGCTGAGGATCCCTGAAGTGAGGCTTTGTCAGCAAAGCACAGAAAGGTGGGGCTGGGCACACAGCGCTGCAAAAGGGA... | AAAGACTGGAGAAGGGGGAGAAATCAAGGGTCTGATTTAAGGCCAAGTCTCCATCTCAGTCCCGTCCTGCAGGGAGCTCCAGAGAGTGATTCGTACCTTAAAGTTTTTCCTGCTTCGAAGCAAGGGAGCAGCTTAGCCTTTGTATTCTCACACAGATTAGTCTTTGGTTACAGGTGACCACAAAGATTGAGGGAACTTAAATTGCCAGGCATTTACCATTCCAGTGCCCAAAGGCAAAAATCTGCTGAGGATCCCTGAAGTGAGGCTTTGTCAGCAAAGCACAGAAAGGTGGGGCTGGGCACACAGCGCTGCAAAAGGGA... |
Task1_train_22340 | Consider a variant on Chromosome 16 in gene GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A). Determine its clinical classification and disease relevance. | Pathogenic; Landau-Kleffner syndrome | ATCAAGGGTCTGATTTAAGGCCAAGTCTCCATCTCAGTCCCGTCCTGCAGGGAGCTCCAGAGAGTGATTCGTACCTTAAAGTTTTTCCTGCTTCGAAGCAAGGGAGCAGCTTAGCCTTTGTATTCTCACACAGATTAGTCTTTGGTTACAGGTGACCACAAAGATTGAGGGAACTTAAATTGCCAGGCATTTACCATTCCAGTGCCCAAAGGCAAAAATCTGCTGAGGATCCCTGAAGTGAGGCTTTGTCAGCAAAGCACAGAAAGGTGGGGCTGGGCACACAGCGCTGCAAAAGGGATCCCAGGAGATCCAGGTGGGGT... | ATCAAGGGTCTGATTTAAGGCCAAGTCTCCATCTCAGTCCCGTCCTGCAGGGAGCTCCAGAGAGTGATTCGTACCTTAAAGTTTTTCCTGCTTCGAAGCAAGGGAGCAGCTTAGCCTTTGTATTCTCACACAGATTAGTCTTTGGTTACAGGTGACCACAAAGATTGAGGGAACTTAAATTGCCAGGCATTTACCATTCCAGTGCCCAAAGGCAAAAATCTGCTGAGGATCCCTGAAGTGAGGCTTTGTCAGCAAAGCACAGAAAGGTGGGGCTGGGCACACAGCGCTGCAAAAGGGATCCCAGGAGATCCAGGTGGGGT... |
Task1_train_22341 | This genomic variant is located on Chromosome 16, within the GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Landau-Kleffner syndrome | TCGAAGCAAGGGAGCAGCTTAGCCTTTGTATTCTCACACAGATTAGTCTTTGGTTACAGGTGACCACAAAGATTGAGGGAACTTAAATTGCCAGGCATTTACCATTCCAGTGCCCAAAGGCAAAAATCTGCTGAGGATCCCTGAAGTGAGGCTTTGTCAGCAAAGCACAGAAAGGTGGGGCTGGGCACACAGCGCTGCAAAAGGGATCCCAGGAGATCCAGGTGGGGTATGCACAGTGTCCAGTATACCATGCATGTATTCATTCACCCAGCAAGAGTGTCCTGAGCACCTCCAAAGTGCAAAATAACTCTATCAAAACT... | TCGAAGCAAGGGAGCAGCTTAGCCTTTGTATTCTCACACAGATTAGTCTTTGGTTACAGGTGACCACAAAGATTGAGGGAACTTAAATTGCCAGGCATTTACCATTCCAGTGCCCAAAGGCAAAAATCTGCTGAGGATCCCTGAAGTGAGGCTTTGTCAGCAAAGCACAGAAAGGTGGGGCTGGGCACACAGCGCTGCAAAAGGGATCCCAGGAGATCCAGGTGGGGTATGCACAGTGTCCAGTATACCATGCATGTATTCATTCACCCAGCAAGAGTGTCCTGAGCACCTCCAAAGTGCAAAATAACTCTATCAAAACT... |
Task1_train_22342 | This variant affects the gene GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Landau-Kleffner syndrome | GCTTAGCCTTTGTATTCTCACACAGATTAGTCTTTGGTTACAGGTGACCACAAAGATTGAGGGAACTTAAATTGCCAGGCATTTACCATTCCAGTGCCCAAAGGCAAAAATCTGCTGAGGATCCCTGAAGTGAGGCTTTGTCAGCAAAGCACAGAAAGGTGGGGCTGGGCACACAGCGCTGCAAAAGGGATCCCAGGAGATCCAGGTGGGGTATGCACAGTGTCCAGTATACCATGCATGTATTCATTCACCCAGCAAGAGTGTCCTGAGCACCTCCAAAGTGCAAAATAACTCTATCAAAACTACATCCCTGAGGGCCT... | GCTTAGCCTTTGTATTCTCACACAGATTAGTCTTTGGTTACAGGTGACCACAAAGATTGAGGGAACTTAAATTGCCAGGCATTTACCATTCCAGTGCCCAAAGGCAAAAATCTGCTGAGGATCCCTGAAGTGAGGCTTTGTCAGCAAAGCACAGAAAGGTGGGGCTGGGCACACAGCGCTGCAAAAGGGATCCCAGGAGATCCAGGTGGGGTATGCACAGTGTCCAGTATACCATGCATGTATTCATTCACCCAGCAAGAGTGTCCTGAGCACCTCCAAAGTGCAAAATAACTCTATCAAAACTACATCCCTGAGGGCCT... |
Task1_train_22343 | Here’s a variant in GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Landau-Kleffner syndrome | ATGAGGTCTTGCTATGTTACCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATTCTCCTGCCTTGGCCTCAAAAAGCCTTGACATCACAAGTATGAGCCACTGCACCCCCTCAGCCTTTTTCTGTTTCTTGAGCATCTCAAGATTATTTCAGCCTTTCTGTTTGCTGTTCCTTTTACATGAAATGACTGTAACTGTTTTTGACAGATAAAATTGTATGTCACCCTTCAGGTCCTAGCTCAATGAACATCCTTTCCCATTGGACCATCTTATCTAACGTAGTGTCTGCACCCCATCACTATCATGTCACTATGTTTTTTT... | ATGAGGTCTTGCTATGTTACCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATTCTCCTGCCTTGGCCTCAAAAAGCCTTGACATCACAAGTATGAGCCACTGCACCCCCTCAGCCTTTTTCTGTTTCTTGAGCATCTCAAGATTATTTCAGCCTTTCTGTTTGCTGTTCCTTTTACATGAAATGACTGTAACTGTTTTTGACAGATAAAATTGTATGTCACCCTTCAGGTCCTAGCTCAATGAACATCCTTTCCCATTGGACCATCTTATCTAACGTAGTGTCTGCACCCCATCACTATCATGTCACTATGTTTTTTT... |
Task1_train_22344 | A change on Chromosome 16 affects gene GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Landau-Kleffner syndrome | CTCAAACTCCTGACCTCAGGCAATTCTCCTGCCTTGGCCTCAAAAAGCCTTGACATCACAAGTATGAGCCACTGCACCCCCTCAGCCTTTTTCTGTTTCTTGAGCATCTCAAGATTATTTCAGCCTTTCTGTTTGCTGTTCCTTTTACATGAAATGACTGTAACTGTTTTTGACAGATAAAATTGTATGTCACCCTTCAGGTCCTAGCTCAATGAACATCCTTTCCCATTGGACCATCTTATCTAACGTAGTGTCTGCACCCCATCACTATCATGTCACTATGTTTTTTTCTTCTTCTTGATATTTATTATAATCTGTTA... | CTCAAACTCCTGACCTCAGGCAATTCTCCTGCCTTGGCCTCAAAAAGCCTTGACATCACAAGTATGAGCCACTGCACCCCCTCAGCCTTTTTCTGTTTCTTGAGCATCTCAAGATTATTTCAGCCTTTCTGTTTGCTGTTCCTTTTACATGAAATGACTGTAACTGTTTTTGACAGATAAAATTGTATGTCACCCTTCAGGTCCTAGCTCAATGAACATCCTTTCCCATTGGACCATCTTATCTAACGTAGTGTCTGCACCCCATCACTATCATGTCACTATGTTTTTTTCTTCTTCTTGATATTTATTATAATCTGTTA... |
Task1_train_22345 | Given this context: Chromosome 16, gene GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Landau-Kleffner syndrome | CATTCCACAGTGTCAAGACCAGTATCTGAATATGTGATCTTATTTTTTTAGCAGCTTTTTCTAAGTTTGAGATAAATGAAAGATGTGAACTGGGGGATGGGTTTTTCAAGAATGGAAAATCTAATACTACATATTCTCACTTCTAAATGAAAGCTAACCTATGGGTATGAAAAAGCACACAAGTGGTATAATGGACACTGGAGACTCAGAAAGGGAGAGGATGGGAGGGAGATGAGTGATGGAAAATTACCTACAATGTACACTATTTAGGTGACAGGTACACTAAAGGCCCAGACTTCACCACTATATAATTCGTCCAT... | CATTCCACAGTGTCAAGACCAGTATCTGAATATGTGATCTTATTTTTTTAGCAGCTTTTTCTAAGTTTGAGATAAATGAAAGATGTGAACTGGGGGATGGGTTTTTCAAGAATGGAAAATCTAATACTACATATTCTCACTTCTAAATGAAAGCTAACCTATGGGTATGAAAAAGCACACAAGTGGTATAATGGACACTGGAGACTCAGAAAGGGAGAGGATGGGAGGGAGATGAGTGATGGAAAATTACCTACAATGTACACTATTTAGGTGACAGGTACACTAAAGGCCCAGACTTCACCACTATATAATTCGTCCAT... |
Task1_train_22346 | The variant affects gene GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Landau-Kleffner syndrome | GTATCTGAATATGTGATCTTATTTTTTTAGCAGCTTTTTCTAAGTTTGAGATAAATGAAAGATGTGAACTGGGGGATGGGTTTTTCAAGAATGGAAAATCTAATACTACATATTCTCACTTCTAAATGAAAGCTAACCTATGGGTATGAAAAAGCACACAAGTGGTATAATGGACACTGGAGACTCAGAAAGGGAGAGGATGGGAGGGAGATGAGTGATGGAAAATTACCTACAATGTACACTATTTAGGTGACAGGTACACTAAAGGCCCAGACTTCACCACTATATAATTCGTCCATATAACCAAAAATCACTTGTAC... | GTATCTGAATATGTGATCTTATTTTTTTAGCAGCTTTTTCTAAGTTTGAGATAAATGAAAGATGTGAACTGGGGGATGGGTTTTTCAAGAATGGAAAATCTAATACTACATATTCTCACTTCTAAATGAAAGCTAACCTATGGGTATGAAAAAGCACACAAGTGGTATAATGGACACTGGAGACTCAGAAAGGGAGAGGATGGGAGGGAGATGAGTGATGGAAAATTACCTACAATGTACACTATTTAGGTGACAGGTACACTAAAGGCCCAGACTTCACCACTATATAATTCGTCCATATAACCAAAAATCACTTGTAC... |
Task1_train_22347 | The gene GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Landau-Kleffner syndrome | TTTTTTAGCAGCTTTTTCTAAGTTTGAGATAAATGAAAGATGTGAACTGGGGGATGGGTTTTTCAAGAATGGAAAATCTAATACTACATATTCTCACTTCTAAATGAAAGCTAACCTATGGGTATGAAAAAGCACACAAGTGGTATAATGGACACTGGAGACTCAGAAAGGGAGAGGATGGGAGGGAGATGAGTGATGGAAAATTACCTACAATGTACACTATTTAGGTGACAGGTACACTAAAGGCCCAGACTTCACCACTATATAATTCGTCCATATAACCAAAAATCACTTGTACCCCTGAGCTATTGAAATTTTTT... | TTTTTTAGCAGCTTTTTCTAAGTTTGAGATAAATGAAAGATGTGAACTGGGGGATGGGTTTTTCAAGAATGGAAAATCTAATACTACATATTCTCACTTCTAAATGAAAGCTAACCTATGGGTATGAAAAAGCACACAAGTGGTATAATGGACACTGGAGACTCAGAAAGGGAGAGGATGGGAGGGAGATGAGTGATGGAAAATTACCTACAATGTACACTATTTAGGTGACAGGTACACTAAAGGCCCAGACTTCACCACTATATAATTCGTCCATATAACCAAAAATCACTTGTACCCCTGAGCTATTGAAATTTTTT... |
Task1_train_22348 | Gene EMP2 (epithelial membrane protein 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Nephrotic syndrome, type 10 | GGATCTAGGCTGCACGCTCCTTATGAGACTCTAATGCCTGATGATCTGTCACTGTCTCCCATCACCCCCAGATGGGACCGTCTAGTCCAGAACAACAAGCTCAGGGCTCCCACTGATTCCACATTATGACGAGTTATATAATTATTTCATTATATATTAAAATGTAATAATAATAAAGTGCACAATAAATGTAATGCACTTGAATCATTCTGAAACCATCCCCCTGCAATGCCCCCTCCCCAGTCTGTAGAAAAATTGTCTTCCATGAAACCGGTTCCTGGTGCCAAAAACGTTGGGGACCACTGCTATAATCCATAGCA... | GGATCTAGGCTGCACGCTCCTTATGAGACTCTAATGCCTGATGATCTGTCACTGTCTCCCATCACCCCCAGATGGGACCGTCTAGTCCAGAACAACAAGCTCAGGGCTCCCACTGATTCCACATTATGACGAGTTATATAATTATTTCATTATATATTAAAATGTAATAATAATAAAGTGCACAATAAATGTAATGCACTTGAATCATTCTGAAACCATCCCCCTGCAATGCCCCCTCCCCAGTCTGTAGAAAAATTGTCTTCCATGAAACCGGTTCCTGGTGCCAAAAACGTTGGGGACCACTGCTATAATCCATAGCA... |
Task1_train_22349 | This mutation occurs in LITAF (lipopolysaccharide induced TNF factor) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth disease type 1C | CTTTTAGCATCTCACAAAGCATGTTTTGTTCAGAGAATGAATGGGGACAGTTCTCTTTTGTGCATTTTATTAAAACTTGAAAGCTATGGCTTGCCGCCATCAATGACGCCTATTGGGTTCCAATAGCCTCATGTTCAAATCTGACTCGTTAGCAAATCCACCCAACTCAACATCGGTCATCTTGACATTGCAGGATATTCAGCAAGTCTGAAGTTTTTAATCGGGAAGGATTTTCTACCGTTACTGAACAAATAAAGGTTCTTTGTAGCAATGGCTGGAAATGCAACATGAGCCCTTTCTTCACACCAAAAGAACTCATA... | CTTTTAGCATCTCACAAAGCATGTTTTGTTCAGAGAATGAATGGGGACAGTTCTCTTTTGTGCATTTTATTAAAACTTGAAAGCTATGGCTTGCCGCCATCAATGACGCCTATTGGGTTCCAATAGCCTCATGTTCAAATCTGACTCGTTAGCAAATCCACCCAACTCAACATCGGTCATCTTGACATTGCAGGATATTCAGCAAGTCTGAAGTTTTTAATCGGGAAGGATTTTCTACCGTTACTGAACAAATAAAGGTTCTTTGTAGCAATGGCTGGAAATGCAACATGAGCCCTTTCTTCACACCAAAAGAACTCATA... |
Task1_train_22350 | The gene LITAF (lipopolysaccharide induced TNF factor) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Charcot-Marie-Tooth disease type 1C | GGTTGCCTCAATTTCTAAAGCCAGACTGGCAGAGGCCAATACTCAATGTAAGTTTCTATTCCTCTATAATCCCAGCACTTTGGGAGGTCAAGGCAGAAGGACTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAAAACCCCTGCTTCCACACACACAAAAAAAAAATTTAAAAATTAGCTAGGTATGGTGGCACACACCTGTGGTCCCAGGTACTCAGGAGGCTGAGCTGGGCGGATTGCAGGAGCCCAGGAGATCAAAGCTGCGGAGAGCTACGATCGTACCACTGCACTCCTGCCTGGACAACAGAG... | GGTTGCCTCAATTTCTAAAGCCAGACTGGCAGAGGCCAATACTCAATGTAAGTTTCTATTCCTCTATAATCCCAGCACTTTGGGAGGTCAAGGCAGAAGGACTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAAAACCCCTGCTTCCACACACACAAAAAAAAAATTTAAAAATTAGCTAGGTATGGTGGCACACACCTGTGGTCCCAGGTACTCAGGAGGCTGAGCTGGGCGGATTGCAGGAGCCCAGGAGATCAAAGCTGCGGAGAGCTACGATCGTACCACTGCACTCCTGCCTGGACAACAGAG... |
Task1_train_22351 | A mutation found in LITAF (lipopolysaccharide induced TNF factor) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Charcot-Marie-Tooth disease type 1C | AGCCAGACTGGCAGAGGCCAATACTCAATGTAAGTTTCTATTCCTCTATAATCCCAGCACTTTGGGAGGTCAAGGCAGAAGGACTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAAAACCCCTGCTTCCACACACACAAAAAAAAAATTTAAAAATTAGCTAGGTATGGTGGCACACACCTGTGGTCCCAGGTACTCAGGAGGCTGAGCTGGGCGGATTGCAGGAGCCCAGGAGATCAAAGCTGCGGAGAGCTACGATCGTACCACTGCACTCCTGCCTGGACAACAGAGCAAGACTCAGCCTCAAAC... | AGCCAGACTGGCAGAGGCCAATACTCAATGTAAGTTTCTATTCCTCTATAATCCCAGCACTTTGGGAGGTCAAGGCAGAAGGACTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAAAACCCCTGCTTCCACACACACAAAAAAAAAATTTAAAAATTAGCTAGGTATGGTGGCACACACCTGTGGTCCCAGGTACTCAGGAGGCTGAGCTGGGCGGATTGCAGGAGCCCAGGAGATCAAAGCTGCGGAGAGCTACGATCGTACCACTGCACTCCTGCCTGGACAACAGAGCAAGACTCAGCCTCAAAC... |
Task1_train_22352 | A variant was discovered in gene LITAF (lipopolysaccharide induced TNF factor), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Inborn genetic diseases | AGAGGCCAATACTCAATGTAAGTTTCTATTCCTCTATAATCCCAGCACTTTGGGAGGTCAAGGCAGAAGGACTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAAAACCCCTGCTTCCACACACACAAAAAAAAAATTTAAAAATTAGCTAGGTATGGTGGCACACACCTGTGGTCCCAGGTACTCAGGAGGCTGAGCTGGGCGGATTGCAGGAGCCCAGGAGATCAAAGCTGCGGAGAGCTACGATCGTACCACTGCACTCCTGCCTGGACAACAGAGCAAGACTCAGCCTCAAACAAAACAAAACAA... | AGAGGCCAATACTCAATGTAAGTTTCTATTCCTCTATAATCCCAGCACTTTGGGAGGTCAAGGCAGAAGGACTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAAAACCCCTGCTTCCACACACACAAAAAAAAAATTTAAAAATTAGCTAGGTATGGTGGCACACACCTGTGGTCCCAGGTACTCAGGAGGCTGAGCTGGGCGGATTGCAGGAGCCCAGGAGATCAAAGCTGCGGAGAGCTACGATCGTACCACTGCACTCCTGCCTGGACAACAGAGCAAGACTCAGCCTCAAACAAAACAAAACAA... |
Task1_train_22353 | The gene LITAF (lipopolysaccharide induced TNF factor), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Charcot-Marie-Tooth disease | AGAGGCCAATACTCAATGTAAGTTTCTATTCCTCTATAATCCCAGCACTTTGGGAGGTCAAGGCAGAAGGACTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAAAACCCCTGCTTCCACACACACAAAAAAAAAATTTAAAAATTAGCTAGGTATGGTGGCACACACCTGTGGTCCCAGGTACTCAGGAGGCTGAGCTGGGCGGATTGCAGGAGCCCAGGAGATCAAAGCTGCGGAGAGCTACGATCGTACCACTGCACTCCTGCCTGGACAACAGAGCAAGACTCAGCCTCAAACAAAACAAAACAA... | AGAGGCCAATACTCAATGTAAGTTTCTATTCCTCTATAATCCCAGCACTTTGGGAGGTCAAGGCAGAAGGACTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAAAACCCCTGCTTCCACACACACAAAAAAAAAATTTAAAAATTAGCTAGGTATGGTGGCACACACCTGTGGTCCCAGGTACTCAGGAGGCTGAGCTGGGCGGATTGCAGGAGCCCAGGAGATCAAAGCTGCGGAGAGCTACGATCGTACCACTGCACTCCTGCCTGGACAACAGAGCAAGACTCAGCCTCAAACAAAACAAAACAA... |
Task1_train_22354 | Given a variant located on Chromosome 16 and affecting LITAF (lipopolysaccharide induced TNF factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Charcot-Marie-Tooth disease type 1C | AGAGGCCAATACTCAATGTAAGTTTCTATTCCTCTATAATCCCAGCACTTTGGGAGGTCAAGGCAGAAGGACTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAAAACCCCTGCTTCCACACACACAAAAAAAAAATTTAAAAATTAGCTAGGTATGGTGGCACACACCTGTGGTCCCAGGTACTCAGGAGGCTGAGCTGGGCGGATTGCAGGAGCCCAGGAGATCAAAGCTGCGGAGAGCTACGATCGTACCACTGCACTCCTGCCTGGACAACAGAGCAAGACTCAGCCTCAAACAAAACAAAACAA... | AGAGGCCAATACTCAATGTAAGTTTCTATTCCTCTATAATCCCAGCACTTTGGGAGGTCAAGGCAGAAGGACTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAAAACCCCTGCTTCCACACACACAAAAAAAAAATTTAAAAATTAGCTAGGTATGGTGGCACACACCTGTGGTCCCAGGTACTCAGGAGGCTGAGCTGGGCGGATTGCAGGAGCCCAGGAGATCAAAGCTGCGGAGAGCTACGATCGTACCACTGCACTCCTGCCTGGACAACAGAGCAAGACTCAGCCTCAAACAAAACAAAACAA... |
Task1_train_22355 | Given this variant in gene LITAF (lipopolysaccharide induced TNF factor) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Charcot-Marie-Tooth disease type 1C | AGGCCAATACTCAATGTAAGTTTCTATTCCTCTATAATCCCAGCACTTTGGGAGGTCAAGGCAGAAGGACTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAAAACCCCTGCTTCCACACACACAAAAAAAAAATTTAAAAATTAGCTAGGTATGGTGGCACACACCTGTGGTCCCAGGTACTCAGGAGGCTGAGCTGGGCGGATTGCAGGAGCCCAGGAGATCAAAGCTGCGGAGAGCTACGATCGTACCACTGCACTCCTGCCTGGACAACAGAGCAAGACTCAGCCTCAAACAAAACAAAACAAGT... | AGGCCAATACTCAATGTAAGTTTCTATTCCTCTATAATCCCAGCACTTTGGGAGGTCAAGGCAGAAGGACTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAAAACCCCTGCTTCCACACACACAAAAAAAAAATTTAAAAATTAGCTAGGTATGGTGGCACACACCTGTGGTCCCAGGTACTCAGGAGGCTGAGCTGGGCGGATTGCAGGAGCCCAGGAGATCAAAGCTGCGGAGAGCTACGATCGTACCACTGCACTCCTGCCTGGACAACAGAGCAAGACTCAGCCTCAAACAAAACAAAACAAGT... |
Task1_train_22356 | Gene LITAF (lipopolysaccharide induced TNF factor) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Charcot-Marie-Tooth disease | AGGCCAATACTCAATGTAAGTTTCTATTCCTCTATAATCCCAGCACTTTGGGAGGTCAAGGCAGAAGGACTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAAAACCCCTGCTTCCACACACACAAAAAAAAAATTTAAAAATTAGCTAGGTATGGTGGCACACACCTGTGGTCCCAGGTACTCAGGAGGCTGAGCTGGGCGGATTGCAGGAGCCCAGGAGATCAAAGCTGCGGAGAGCTACGATCGTACCACTGCACTCCTGCCTGGACAACAGAGCAAGACTCAGCCTCAAACAAAACAAAACAAGT... | AGGCCAATACTCAATGTAAGTTTCTATTCCTCTATAATCCCAGCACTTTGGGAGGTCAAGGCAGAAGGACTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAAAACCCCTGCTTCCACACACACAAAAAAAAAATTTAAAAATTAGCTAGGTATGGTGGCACACACCTGTGGTCCCAGGTACTCAGGAGGCTGAGCTGGGCGGATTGCAGGAGCCCAGGAGATCAAAGCTGCGGAGAGCTACGATCGTACCACTGCACTCCTGCCTGGACAACAGAGCAAGACTCAGCCTCAAACAAAACAAAACAAGT... |
Task1_train_22357 | With a mutation on Chromosome 16 in gene ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; XFE progeroid syndrome | TTAGACTGCTTCTGGGTTTGAGTTATCTTCATCTTGCACCAGCTGTGTATTTTTAGGCAAGTTTCTTAATTTCTCTATGCCTCAGCTTACTCACCCGTACATTGGTGATAAAGATAGTACCTTCCTCCTAGGATTGTCAGGGTGAAATGAAATGCTTATATGTAAAATACTTGGTAGCATGGCACATAGTCAGCATTCTATGATCTCTGTGATCTCTGCCTGTTGGTGTTACGATGTTCCTGTTCTCGGGCAGTTTAATGGAGGAGACAAGTAAAGAAGTAGTTATAGTACAGTATGGGTACAAAATGTCATAGGAACAA... | TTAGACTGCTTCTGGGTTTGAGTTATCTTCATCTTGCACCAGCTGTGTATTTTTAGGCAAGTTTCTTAATTTCTCTATGCCTCAGCTTACTCACCCGTACATTGGTGATAAAGATAGTACCTTCCTCCTAGGATTGTCAGGGTGAAATGAAATGCTTATATGTAAAATACTTGGTAGCATGGCACATAGTCAGCATTCTATGATCTCTGTGATCTCTGCCTGTTGGTGTTACGATGTTCCTGTTCTCGGGCAGTTTAATGGAGGAGACAAGTAAAGAAGTAGTTATAGTACAGTATGGGTACAAAATGTCATAGGAACAA... |
Task1_train_22358 | This alteration occurs within gene ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Fanconi anemia complementation group Q | GCTATTTTGTATAGTCCACATCTGATTCATACATTAAAAAAAAAAAATTCATGACCTACTTTGCTTTCAGAAATTCTTCCTCTGACATGCCAGAAACACCCCACCCCAGGGCCTGTGCCCTCACTGTCCCCTCAGCCTGGCAGCCTGGAACTCTCTTGGCCCAGATGGTCACAAGGCTCCATCCAGCCTTTATTCAGATACCACCTTGGTGAGACCACCCCTCATACATACTCCCTCTCCTCCTTCTCTGATTCATTTTTTCTTCTCAGCACTTGTAGCATCCTAAATATTTTACGTATTTATATTGTTTATAGTCAATT... | GCTATTTTGTATAGTCCACATCTGATTCATACATTAAAAAAAAAAAATTCATGACCTACTTTGCTTTCAGAAATTCTTCCTCTGACATGCCAGAAACACCCCACCCCAGGGCCTGTGCCCTCACTGTCCCCTCAGCCTGGCAGCCTGGAACTCTCTTGGCCCAGATGGTCACAAGGCTCCATCCAGCCTTTATTCAGATACCACCTTGGTGAGACCACCCCTCATACATACTCCCTCTCCTCCTTCTCTGATTCATTTTTTCTTCTCAGCACTTGTAGCATCCTAAATATTTTACGTATTTATATTGTTTATAGTCAATT... |
Task1_train_22359 | This sequence variant lies in MRTFB (myocardin related transcription factor B) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; MRTFB-related disorder | GGGCGTGTCCAAGAAGAGCCTGCATCTTGCTCTGCTTTCAGTTGTATCCATTTAATCAACAAACAATTACCAAATGAATTTCCAAGGAAAAATCAGGCACCTAAGTGAATCATTTAGAATACATTTTAAAAACCAGATGCAGTTTAAAAGAGGAACTTGAATTTTATATTACACACAGAACACCTTTACACTGTAATTAGGCTAACATTCATTCTTTCTTTAAACTTTAATATTTGTTTTAGTTTTGAAATGACTAAAGTAATCACTATACTAATGGATTTGAAATTCATTAGACTTGCCAAAAAACATAAAATTAATTT... | GGGCGTGTCCAAGAAGAGCCTGCATCTTGCTCTGCTTTCAGTTGTATCCATTTAATCAACAAACAATTACCAAATGAATTTCCAAGGAAAAATCAGGCACCTAAGTGAATCATTTAGAATACATTTTAAAAACCAGATGCAGTTTAAAAGAGGAACTTGAATTTTATATTACACACAGAACACCTTTACACTGTAATTAGGCTAACATTCATTCTTTCTTTAAACTTTAATATTTGTTTTAGTTTTGAAATGACTAAAGTAATCACTATACTAATGGATTTGAAATTCATTAGACTTGCCAAAAAACATAAAATTAATTT... |
Task1_train_22360 | This alteration occurs within gene MRTFB (myocardin related transcription factor B) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; MRTFB-related disorder | GCCCATGCTTGGAAGTGCAGGGTGTTACCAGGCAATAGTGGACATATGCAGACAAGATTTTGCAAAGATAATTGATAGAATACGGTTGTAGGTGACGATTTGGTAAGCACTGCTTACCCTCACACTAGGATTCCAGAATATTGGATTTACCAGCAGGTAGCATATTAAGGAGTCACTGTGTCTTTACTGTGAGTTGCACTGTGGTATGGTAGAAAGAGCATGAACCCTTCAAATTCAAAATTCTAGATTTAAATACCACTTTGACCACCATCTGGTTGTATGGCCTCAAGAATTCACTTAACTTCTTTGAGCCTTTCACC... | GCCCATGCTTGGAAGTGCAGGGTGTTACCAGGCAATAGTGGACATATGCAGACAAGATTTTGCAAAGATAATTGATAGAATACGGTTGTAGGTGACGATTTGGTAAGCACTGCTTACCCTCACACTAGGATTCCAGAATATTGGATTTACCAGCAGGTAGCATATTAAGGAGTCACTGTGTCTTTACTGTGAGTTGCACTGTGGTATGGTAGAAAGAGCATGAACCCTTCAAATTCAAAATTCTAGATTTAAATACCACTTTGACCACCATCTGGTTGTATGGCCTCAAGAATTCACTTAACTTCTTTGAGCCTTTCACC... |
Task1_train_22361 | This mutation is located in gene PARN (poly(A)-specific ribonuclease) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Dyskeratosis congenita, autosomal recessive 6 | TCTTGGTATGCATCTAGGTTTTACAAAAAAATTCTGAATGGACAGATGTCCCAATTCAAAATAAGCCTACACATTTACTGTCTAGTTCTTTTCAATAATAGTCCTGCACAGTATTAGCAATATTAGATTGATCTAGAAATACAGAAAGTCTCAGCTAGCTTTTTTTTCTTTTTTTTTTTGAGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAGCTTCCGCCTCCTGGTTTCAAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAATACAGGCTAATTTTTGTACTT... | TCTTGGTATGCATCTAGGTTTTACAAAAAAATTCTGAATGGACAGATGTCCCAATTCAAAATAAGCCTACACATTTACTGTCTAGTTCTTTTCAATAATAGTCCTGCACAGTATTAGCAATATTAGATTGATCTAGAAATACAGAAAGTCTCAGCTAGCTTTTTTTTCTTTTTTTTTTTGAGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAGCTTCCGCCTCCTGGTTTCAAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAATACAGGCTAATTTTTGTACTT... |
Task1_train_22362 | Gene PARN (poly(A)-specific ribonuclease) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | TCTTGGTATGCATCTAGGTTTTACAAAAAAATTCTGAATGGACAGATGTCCCAATTCAAAATAAGCCTACACATTTACTGTCTAGTTCTTTTCAATAATAGTCCTGCACAGTATTAGCAATATTAGATTGATCTAGAAATACAGAAAGTCTCAGCTAGCTTTTTTTTCTTTTTTTTTTTGAGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAGCTTCCGCCTCCTGGTTTCAAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAATACAGGCTAATTTTTGTACTT... | TCTTGGTATGCATCTAGGTTTTACAAAAAAATTCTGAATGGACAGATGTCCCAATTCAAAATAAGCCTACACATTTACTGTCTAGTTCTTTTCAATAATAGTCCTGCACAGTATTAGCAATATTAGATTGATCTAGAAATACAGAAAGTCTCAGCTAGCTTTTTTTTCTTTTTTTTTTTGAGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAGCTTCCGCCTCCTGGTTTCAAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAATACAGGCTAATTTTTGTACTT... |
Task1_train_22363 | The following genetic variant occurs in PARN (poly(A)-specific ribonuclease) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Dyskeratosis congenita, autosomal recessive 6 | AGCCAGGATGGTCTCAATCTCCTGACTTCATGATCCGCCTGCCTCAGTCTCCCAAAGTTGGGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAGGAAATTTTCTTTTGTTTTTTTTGTTTTTTTTTTTCAGACAGAGTTTTGCTGTGTTGCCCAGGCTGCAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCACCTGGGTTGAAGCAATTCTCCCACTACAGCCTCCCGAGTAGCTGGGATTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAATAGAGACGAGTTTCATCATGTTGGCCA... | AGCCAGGATGGTCTCAATCTCCTGACTTCATGATCCGCCTGCCTCAGTCTCCCAAAGTTGGGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAGGAAATTTTCTTTTGTTTTTTTTGTTTTTTTTTTTCAGACAGAGTTTTGCTGTGTTGCCCAGGCTGCAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCACCTGGGTTGAAGCAATTCTCCCACTACAGCCTCCCGAGTAGCTGGGATTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAATAGAGACGAGTTTCATCATGTTGGCCA... |
Task1_train_22364 | Here is a genetic alteration in PARN (poly(A)-specific ribonuclease) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Dyskeratosis congenita | AGCCAGGATGGTCTCAATCTCCTGACTTCATGATCCGCCTGCCTCAGTCTCCCAAAGTTGGGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAGGAAATTTTCTTTTGTTTTTTTTGTTTTTTTTTTTCAGACAGAGTTTTGCTGTGTTGCCCAGGCTGCAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCACCTGGGTTGAAGCAATTCTCCCACTACAGCCTCCCGAGTAGCTGGGATTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAATAGAGACGAGTTTCATCATGTTGGCCA... | AGCCAGGATGGTCTCAATCTCCTGACTTCATGATCCGCCTGCCTCAGTCTCCCAAAGTTGGGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAGGAAATTTTCTTTTGTTTTTTTTGTTTTTTTTTTTCAGACAGAGTTTTGCTGTGTTGCCCAGGCTGCAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCACCTGGGTTGAAGCAATTCTCCCACTACAGCCTCCCGAGTAGCTGGGATTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAATAGAGACGAGTTTCATCATGTTGGCCA... |
Task1_train_22365 | Here is a mutation in ABCC1 (ATP binding cassette subfamily C member 1 (ABCC1 blood group)) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hearing loss, autosomal dominant 77 | TGAGACGAAGTGTCTCCCTTGTTGCCCACCTGAAGCGCAATGGCATGACCTTGCCTCACTACAACGTTTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTACTGAGTAGCTGGGATTATAGGCATGCACCACCACTCCTGGCTAATTGTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTGGAACTCCCGACCTCAAGTGATCCGCCCGCCTCAGCCTCCCGAAGTGCTGGGATTTCAGGTGTGAGCCACCCCGCCTGGCCATCTGACTGGTTTCTTAGCATGATGTTTTCAAGGTTTA... | TGAGACGAAGTGTCTCCCTTGTTGCCCACCTGAAGCGCAATGGCATGACCTTGCCTCACTACAACGTTTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTACTGAGTAGCTGGGATTATAGGCATGCACCACCACTCCTGGCTAATTGTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTGGAACTCCCGACCTCAAGTGATCCGCCCGCCTCAGCCTCCCGAAGTGCTGGGATTTCAGGTGTGAGCCACCCCGCCTGGCCATCTGACTGGTTTCTTAGCATGATGTTTTCAAGGTTTA... |
Task1_train_22366 | Given a variant located on Chromosome 16 and affecting ABCC6 (ATP binding cassette subfamily C member 6), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Arterial calcification, generalized, of infancy, 2 | TGAGTCAAGATTGCACCCCTGCACTCCGGCTTGGGTGACAGAGTGAGACTTTGTCTCGGACAAAAAAAAAAAAAAAAAAAAAAAGAACCAAGTCCTCGGGCAAATTCTCCCATTGAGGGCTGTGAAGTCTTGGCTCCTCTGTTGTTTGTTTTGGAAACCAAACTTGCATATTTGACTTTCTCATGCGTGGAGAGGACCCATGCTTGGCATGGGGGGGCACCTGGTTTTTGTGTCCTTGGAGCTCATCTCTGGTGGGGGAGGAGGAGCAGCAGGAGATGCGAGGGCTGTAGTTCTCAGTCCTGGCCGCACATTGGAATCCT... | TGAGTCAAGATTGCACCCCTGCACTCCGGCTTGGGTGACAGAGTGAGACTTTGTCTCGGACAAAAAAAAAAAAAAAAAAAAAAAGAACCAAGTCCTCGGGCAAATTCTCCCATTGAGGGCTGTGAAGTCTTGGCTCCTCTGTTGTTTGTTTTGGAAACCAAACTTGCATATTTGACTTTCTCATGCGTGGAGAGGACCCATGCTTGGCATGGGGGGGCACCTGGTTTTTGTGTCCTTGGAGCTCATCTCTGGTGGGGGAGGAGGAGCAGCAGGAGATGCGAGGGCTGTAGTTCTCAGTCCTGGCCGCACATTGGAATCCT... |
Task1_train_22367 | Located on Chromosome 16, this mutation impacts ABCC6 (ATP binding cassette subfamily C member 6). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | TGAGTCAAGATTGCACCCCTGCACTCCGGCTTGGGTGACAGAGTGAGACTTTGTCTCGGACAAAAAAAAAAAAAAAAAAAAAAAGAACCAAGTCCTCGGGCAAATTCTCCCATTGAGGGCTGTGAAGTCTTGGCTCCTCTGTTGTTTGTTTTGGAAACCAAACTTGCATATTTGACTTTCTCATGCGTGGAGAGGACCCATGCTTGGCATGGGGGGGCACCTGGTTTTTGTGTCCTTGGAGCTCATCTCTGGTGGGGGAGGAGGAGCAGCAGGAGATGCGAGGGCTGTAGTTCTCAGTCCTGGCCGCACATTGGAATCCT... | TGAGTCAAGATTGCACCCCTGCACTCCGGCTTGGGTGACAGAGTGAGACTTTGTCTCGGACAAAAAAAAAAAAAAAAAAAAAAAGAACCAAGTCCTCGGGCAAATTCTCCCATTGAGGGCTGTGAAGTCTTGGCTCCTCTGTTGTTTGTTTTGGAAACCAAACTTGCATATTTGACTTTCTCATGCGTGGAGAGGACCCATGCTTGGCATGGGGGGGCACCTGGTTTTTGTGTCCTTGGAGCTCATCTCTGGTGGGGGAGGAGGAGCAGCAGGAGATGCGAGGGCTGTAGTTCTCAGTCCTGGCCGCACATTGGAATCCT... |
Task1_train_22368 | This variant impacts the gene ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | GTCAAGATTGCACCCCTGCACTCCGGCTTGGGTGACAGAGTGAGACTTTGTCTCGGACAAAAAAAAAAAAAAAAAAAAAAAGAACCAAGTCCTCGGGCAAATTCTCCCATTGAGGGCTGTGAAGTCTTGGCTCCTCTGTTGTTTGTTTTGGAAACCAAACTTGCATATTTGACTTTCTCATGCGTGGAGAGGACCCATGCTTGGCATGGGGGGGCACCTGGTTTTTGTGTCCTTGGAGCTCATCTCTGGTGGGGGAGGAGGAGCAGCAGGAGATGCGAGGGCTGTAGTTCTCAGTCCTGGCCGCACATTGGAATCCTATG... | GTCAAGATTGCACCCCTGCACTCCGGCTTGGGTGACAGAGTGAGACTTTGTCTCGGACAAAAAAAAAAAAAAAAAAAAAAAGAACCAAGTCCTCGGGCAAATTCTCCCATTGAGGGCTGTGAAGTCTTGGCTCCTCTGTTGTTTGTTTTGGAAACCAAACTTGCATATTTGACTTTCTCATGCGTGGAGAGGACCCATGCTTGGCATGGGGGGGCACCTGGTTTTTGTGTCCTTGGAGCTCATCTCTGGTGGGGGAGGAGGAGCAGCAGGAGATGCGAGGGCTGTAGTTCTCAGTCCTGGCCGCACATTGGAATCCTATG... |
Task1_train_22369 | Consider a variant on Chromosome 16 in gene ABCC6 (ATP binding cassette subfamily C member 6). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | AGATTGCACCCCTGCACTCCGGCTTGGGTGACAGAGTGAGACTTTGTCTCGGACAAAAAAAAAAAAAAAAAAAAAAAGAACCAAGTCCTCGGGCAAATTCTCCCATTGAGGGCTGTGAAGTCTTGGCTCCTCTGTTGTTTGTTTTGGAAACCAAACTTGCATATTTGACTTTCTCATGCGTGGAGAGGACCCATGCTTGGCATGGGGGGGCACCTGGTTTTTGTGTCCTTGGAGCTCATCTCTGGTGGGGGAGGAGGAGCAGCAGGAGATGCGAGGGCTGTAGTTCTCAGTCCTGGCCGCACATTGGAATCCTATGGGGG... | AGATTGCACCCCTGCACTCCGGCTTGGGTGACAGAGTGAGACTTTGTCTCGGACAAAAAAAAAAAAAAAAAAAAAAAGAACCAAGTCCTCGGGCAAATTCTCCCATTGAGGGCTGTGAAGTCTTGGCTCCTCTGTTGTTTGTTTTGGAAACCAAACTTGCATATTTGACTTTCTCATGCGTGGAGAGGACCCATGCTTGGCATGGGGGGGCACCTGGTTTTTGTGTCCTTGGAGCTCATCTCTGGTGGGGGAGGAGGAGCAGCAGGAGATGCGAGGGCTGTAGTTCTCAGTCCTGGCCGCACATTGGAATCCTATGGGGG... |
Task1_train_22370 | A variant found in Chromosome 16 affects ABCC6 (ATP binding cassette subfamily C member 6). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Arterial calcification, generalized, of infancy, 2 | AACAACTTTGTGCATATAATTCAATCCTTGCAAGGTAGGTAGGTGCTATTATTCCCACCTTACAGATGAGGAAACTGAGGCACACAAGATAAGTTGCCTAAGATCCTACAGCTAGTAAGTGGCAGGGCGGGGCGGGGGTGGGGGTGTGGGGTGGGGGGCCTGGATTTGAGCCCAGGCAGTCTGTCACCTGTGTATACTCTTACCCACCAAGCAACGCTGCCTCTCTAGTGCTGGAAATTATTGCCTACCACAAGCCCTTCGGACACCCTCAGGGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTT... | AACAACTTTGTGCATATAATTCAATCCTTGCAAGGTAGGTAGGTGCTATTATTCCCACCTTACAGATGAGGAAACTGAGGCACACAAGATAAGTTGCCTAAGATCCTACAGCTAGTAAGTGGCAGGGCGGGGCGGGGGTGGGGGTGTGGGGTGGGGGGCCTGGATTTGAGCCCAGGCAGTCTGTCACCTGTGTATACTCTTACCCACCAAGCAACGCTGCCTCTCTAGTGCTGGAAATTATTGCCTACCACAAGCCCTTCGGACACCCTCAGGGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTT... |
Task1_train_22371 | Here is a genetic alteration in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | AACAACTTTGTGCATATAATTCAATCCTTGCAAGGTAGGTAGGTGCTATTATTCCCACCTTACAGATGAGGAAACTGAGGCACACAAGATAAGTTGCCTAAGATCCTACAGCTAGTAAGTGGCAGGGCGGGGCGGGGGTGGGGGTGTGGGGTGGGGGGCCTGGATTTGAGCCCAGGCAGTCTGTCACCTGTGTATACTCTTACCCACCAAGCAACGCTGCCTCTCTAGTGCTGGAAATTATTGCCTACCACAAGCCCTTCGGACACCCTCAGGGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTT... | AACAACTTTGTGCATATAATTCAATCCTTGCAAGGTAGGTAGGTGCTATTATTCCCACCTTACAGATGAGGAAACTGAGGCACACAAGATAAGTTGCCTAAGATCCTACAGCTAGTAAGTGGCAGGGCGGGGCGGGGGTGGGGGTGTGGGGTGGGGGGCCTGGATTTGAGCCCAGGCAGTCTGTCACCTGTGTATACTCTTACCCACCAAGCAACGCTGCCTCTCTAGTGCTGGAAATTATTGCCTACCACAAGCCCTTCGGACACCCTCAGGGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTT... |
Task1_train_22372 | Gene ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Pseudoxanthoma elasticum, forme fruste | AACAACTTTGTGCATATAATTCAATCCTTGCAAGGTAGGTAGGTGCTATTATTCCCACCTTACAGATGAGGAAACTGAGGCACACAAGATAAGTTGCCTAAGATCCTACAGCTAGTAAGTGGCAGGGCGGGGCGGGGGTGGGGGTGTGGGGTGGGGGGCCTGGATTTGAGCCCAGGCAGTCTGTCACCTGTGTATACTCTTACCCACCAAGCAACGCTGCCTCTCTAGTGCTGGAAATTATTGCCTACCACAAGCCCTTCGGACACCCTCAGGGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTT... | AACAACTTTGTGCATATAATTCAATCCTTGCAAGGTAGGTAGGTGCTATTATTCCCACCTTACAGATGAGGAAACTGAGGCACACAAGATAAGTTGCCTAAGATCCTACAGCTAGTAAGTGGCAGGGCGGGGCGGGGGTGGGGGTGTGGGGTGGGGGGCCTGGATTTGAGCCCAGGCAGTCTGTCACCTGTGTATACTCTTACCCACCAAGCAACGCTGCCTCTCTAGTGCTGGAAATTATTGCCTACCACAAGCCCTTCGGACACCCTCAGGGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTT... |
Task1_train_22373 | Here is a variant affecting ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | TGGGGGTGTGGGGTGGGGGGCCTGGATTTGAGCCCAGGCAGTCTGTCACCTGTGTATACTCTTACCCACCAAGCAACGCTGCCTCTCTAGTGCTGGAAATTATTGCCTACCACAAGCCCTTCGGACACCCTCAGGGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTTTTTTTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAG... | TGGGGGTGTGGGGTGGGGGGCCTGGATTTGAGCCCAGGCAGTCTGTCACCTGTGTATACTCTTACCCACCAAGCAACGCTGCCTCTCTAGTGCTGGAAATTATTGCCTACCACAAGCCCTTCGGACACCCTCAGGGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTTTTTTTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAG... |
Task1_train_22374 | Given this context: Chromosome 16, gene ABCC6 (ATP binding cassette subfamily C member 6) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | AATTATTGCCTACCACAAGCCCTTCGGACACCCTCAGGGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTTTTTTTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGA... | AATTATTGCCTACCACAAGCCCTTCGGACACCCTCAGGGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTTTTTTTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGA... |
Task1_train_22375 | This genomic variant is located on Chromosome 16, within the ABCC6 (ATP binding cassette subfamily C member 6) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | GACACCCTCAGGGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTTTTTTTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTG... | GACACCCTCAGGGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTTTTTTTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTG... |
Task1_train_22376 | A mutation on Chromosome 16 affecting ABCC6 (ATP binding cassette subfamily C member 6) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | GGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTTTTTTTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTGCTAGGATTACA... | GGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTTTTTTTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTGCTAGGATTACA... |
Task1_train_22377 | The following genetic variant occurs in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | GGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTTTTTTTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTGCTAGGATTACA... | GGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTTTTTTTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTGCTAGGATTACA... |
Task1_train_22378 | This variant lies on Chromosome 16 and affects the gene ABCC6 (ATP binding cassette subfamily C member 6). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Arterial calcification, generalized, of infancy, 2 | TTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCAGCCACTTTGGTTTTTCTAAAGGCATATACCTATACACCTATGTT... | TTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCAGCCACTTTGGTTTTTCTAAAGGCATATACCTATACACCTATGTT... |
Task1_train_22379 | The gene ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | TTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCAGCCACTTTGGTTTTTCTAAAGGCATATACCTATACACCTATGTT... | TTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCAGCCACTTTGGTTTTTCTAAAGGCATATACCTATACACCTATGTT... |
Task1_train_22380 | A change on Chromosome 16 affects gene ABCC6 (ATP binding cassette subfamily C member 6). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Pseudoxanthoma elasticum, forme fruste | TTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCAGCCACTTTGGTTTTTCTAAAGGCATATACCTATACACCTATGTT... | TTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCAGCCACTTTGGTTTTTCTAAAGGCATATACCTATACACCTATGTT... |
Task1_train_22381 | Mutation context: Chromosome 16, Gene ABCC6 (ATP binding cassette subfamily C member 6). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | CAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCAGCCACTTTGGTTTTTCTAAAGGCATATACCTATACACCTATGTTCATAGTGGCATTATTCAAAACGGCCAAGAGGTG... | CAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCAGCCACTTTGGTTTTTCTAAAGGCATATACCTATACACCTATGTTCATAGTGGCATTATTCAAAACGGCCAAGAGGTG... |
Task1_train_22382 | This variant affects gene ABCC6 (ATP binding cassette subfamily C member 6) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | ACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCAGCCACTTTGGTTTTTCTAAAGGCATATACCTATACACCTATGTTCATAGTGGCATTATTCAAAACGGCCAAGAGGTGGAAACAGCCTGG... | ACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCAGCCACTTTGGTTTTTCTAAAGGCATATACCTATACACCTATGTTCATAGTGGCATTATTCAAAACGGCCAAGAGGTGGAAACAGCCTGG... |
Task1_train_22383 | This variant affects the gene ABCC6 (ATP binding cassette subfamily C member 6) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | GAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCAGCCACTTTGGTTTTTCTAAAGGCATATACCTATACACCTATGTTCATAGTGGCATTATTCAAAACGGCCAAGAGGTGGAAACAGCCTGGGTA... | GAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCAGCCACTTTGGTTTTTCTAAAGGCATATACCTATACACCTATGTTCATAGTGGCATTATTCAAAACGGCCAAGAGGTGGAAACAGCCTGGGTA... |
Task1_train_22384 | Given this variant in gene ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | CACGGAGTTGCTTCCTCATCTGGGGACACCAAGGTGGATGAGGAAGTCACCAGATGGAAGCAGGTTTGGGGAAGGTGAGGAGTTCATTTTAGGGGGTAATGGGTCTGAAAGCTAGGGGACCTGAGGTGGGGACACTGTGGAGGTGGCTGGTGCCCAGGGTTTAGGGCCTTGTCCCTGGAGTCCTTTGGCCTAAACTCCATGAAGAAGACATTGTGAGAGAACCACTCACCTTCTCTCCTGCGTGGATCTTGAAGGACACGCCCTGCACAGCCAGCGGGAGCTCAGGTCGGTATCTTAGCCCAAAGTCCCGGAACTCGATC... | CACGGAGTTGCTTCCTCATCTGGGGACACCAAGGTGGATGAGGAAGTCACCAGATGGAAGCAGGTTTGGGGAAGGTGAGGAGTTCATTTTAGGGGGTAATGGGTCTGAAAGCTAGGGGACCTGAGGTGGGGACACTGTGGAGGTGGCTGGTGCCCAGGGTTTAGGGCCTTGTCCCTGGAGTCCTTTGGCCTAAACTCCATGAAGAAGACATTGTGAGAGAACCACTCACCTTCTCTCCTGCGTGGATCTTGAAGGACACGCCCTGCACAGCCAGCGGGAGCTCAGGTCGGTATCTTAGCCCAAAGTCCCGGAACTCGATC... |
Task1_train_22385 | This alteration in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | GGTGAGGAGTTCATTTTAGGGGGTAATGGGTCTGAAAGCTAGGGGACCTGAGGTGGGGACACTGTGGAGGTGGCTGGTGCCCAGGGTTTAGGGCCTTGTCCCTGGAGTCCTTTGGCCTAAACTCCATGAAGAAGACATTGTGAGAGAACCACTCACCTTCTCTCCTGCGTGGATCTTGAAGGACACGCCCTGCACAGCCAGCGGGAGCTCAGGTCGGTATCTTAGCCCAAAGTCCCGGAACTCGATCTGCCCGCCCTGAGGCCAGGGGGGCTGAGCTGCACATGTGGGCAGCCTCCAGGGAGCCTGGAGCAGGAGGGGAA... | GGTGAGGAGTTCATTTTAGGGGGTAATGGGTCTGAAAGCTAGGGGACCTGAGGTGGGGACACTGTGGAGGTGGCTGGTGCCCAGGGTTTAGGGCCTTGTCCCTGGAGTCCTTTGGCCTAAACTCCATGAAGAAGACATTGTGAGAGAACCACTCACCTTCTCTCCTGCGTGGATCTTGAAGGACACGCCCTGCACAGCCAGCGGGAGCTCAGGTCGGTATCTTAGCCCAAAGTCCCGGAACTCGATCTGCCCGCCCTGAGGCCAGGGGGGCTGAGCTGCACATGTGGGCAGCCTCCAGGGAGCCTGGAGCAGGAGGGGAA... |
Task1_train_22386 | Here is a mutation in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | GGTGAGGAGTTCATTTTAGGGGGTAATGGGTCTGAAAGCTAGGGGACCTGAGGTGGGGACACTGTGGAGGTGGCTGGTGCCCAGGGTTTAGGGCCTTGTCCCTGGAGTCCTTTGGCCTAAACTCCATGAAGAAGACATTGTGAGAGAACCACTCACCTTCTCTCCTGCGTGGATCTTGAAGGACACGCCCTGCACAGCCAGCGGGAGCTCAGGTCGGTATCTTAGCCCAAAGTCCCGGAACTCGATCTGCCCGCCCTGAGGCCAGGGGGGCTGAGCTGCACATGTGGGCAGCCTCCAGGGAGCCTGGAGCAGGAGGGGAA... | GGTGAGGAGTTCATTTTAGGGGGTAATGGGTCTGAAAGCTAGGGGACCTGAGGTGGGGACACTGTGGAGGTGGCTGGTGCCCAGGGTTTAGGGCCTTGTCCCTGGAGTCCTTTGGCCTAAACTCCATGAAGAAGACATTGTGAGAGAACCACTCACCTTCTCTCCTGCGTGGATCTTGAAGGACACGCCCTGCACAGCCAGCGGGAGCTCAGGTCGGTATCTTAGCCCAAAGTCCCGGAACTCGATCTGCCCGCCCTGAGGCCAGGGGGGCTGAGCTGCACATGTGGGCAGCCTCCAGGGAGCCTGGAGCAGGAGGGGAA... |
Task1_train_22387 | A variant affecting Chromosome 16, within the gene ABCC6 (ATP binding cassette subfamily C member 6), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Pseudoxanthoma elasticum, forme fruste | GGTGAGGAGTTCATTTTAGGGGGTAATGGGTCTGAAAGCTAGGGGACCTGAGGTGGGGACACTGTGGAGGTGGCTGGTGCCCAGGGTTTAGGGCCTTGTCCCTGGAGTCCTTTGGCCTAAACTCCATGAAGAAGACATTGTGAGAGAACCACTCACCTTCTCTCCTGCGTGGATCTTGAAGGACACGCCCTGCACAGCCAGCGGGAGCTCAGGTCGGTATCTTAGCCCAAAGTCCCGGAACTCGATCTGCCCGCCCTGAGGCCAGGGGGGCTGAGCTGCACATGTGGGCAGCCTCCAGGGAGCCTGGAGCAGGAGGGGAA... | GGTGAGGAGTTCATTTTAGGGGGTAATGGGTCTGAAAGCTAGGGGACCTGAGGTGGGGACACTGTGGAGGTGGCTGGTGCCCAGGGTTTAGGGCCTTGTCCCTGGAGTCCTTTGGCCTAAACTCCATGAAGAAGACATTGTGAGAGAACCACTCACCTTCTCTCCTGCGTGGATCTTGAAGGACACGCCCTGCACAGCCAGCGGGAGCTCAGGTCGGTATCTTAGCCCAAAGTCCCGGAACTCGATCTGCCCGCCCTGAGGCCAGGGGGGCTGAGCTGCACATGTGGGCAGCCTCCAGGGAGCCTGGAGCAGGAGGGGAA... |
Task1_train_22388 | Here’s a variant in ABCC6 (ATP binding cassette subfamily C member 6) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Arterial calcification, generalized, of infancy, 2 | GGTGAGGAGTTCATTTTAGGGGGTAATGGGTCTGAAAGCTAGGGGACCTGAGGTGGGGACACTGTGGAGGTGGCTGGTGCCCAGGGTTTAGGGCCTTGTCCCTGGAGTCCTTTGGCCTAAACTCCATGAAGAAGACATTGTGAGAGAACCACTCACCTTCTCTCCTGCGTGGATCTTGAAGGACACGCCCTGCACAGCCAGCGGGAGCTCAGGTCGGTATCTTAGCCCAAAGTCCCGGAACTCGATCTGCCCGCCCTGAGGCCAGGGGGGCTGAGCTGCACATGTGGGCAGCCTCCAGGGAGCCTGGAGCAGGAGGGGAA... | GGTGAGGAGTTCATTTTAGGGGGTAATGGGTCTGAAAGCTAGGGGACCTGAGGTGGGGACACTGTGGAGGTGGCTGGTGCCCAGGGTTTAGGGCCTTGTCCCTGGAGTCCTTTGGCCTAAACTCCATGAAGAAGACATTGTGAGAGAACCACTCACCTTCTCTCCTGCGTGGATCTTGAAGGACACGCCCTGCACAGCCAGCGGGAGCTCAGGTCGGTATCTTAGCCCAAAGTCCCGGAACTCGATCTGCCCGCCCTGAGGCCAGGGGGGCTGAGCTGCACATGTGGGCAGCCTCCAGGGAGCCTGGAGCAGGAGGGGAA... |
Task1_train_22389 | A change on Chromosome 16 affects gene ABCC6 (ATP binding cassette subfamily C member 6). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | GAGTTCTCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGAGTAAAAGAGAGAGACTCTGTCTTCAAAACAAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCT... | GAGTTCTCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGAGTAAAAGAGAGAGACTCTGTCTTCAAAACAAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCT... |
Task1_train_22390 | Consider this mutation in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Arterial calcification, generalized, of infancy, 2 | AGTTCTCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGAGTAAAAGAGAGAGACTCTGTCTTCAAAACAAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTT... | AGTTCTCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGAGTAAAAGAGAGAGACTCTGTCTTCAAAACAAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTT... |
Task1_train_22391 | Here is a mutation in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | AGTTCTCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGAGTAAAAGAGAGAGACTCTGTCTTCAAAACAAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTT... | AGTTCTCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGAGTAAAAGAGAGAGACTCTGTCTTCAAAACAAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTT... |
Task1_train_22392 | This variant lies on Chromosome 16 and affects the gene ABCC6 (ATP binding cassette subfamily C member 6). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pseudoxanthoma elasticum, forme fruste | AGTTCTCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGAGTAAAAGAGAGAGACTCTGTCTTCAAAACAAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTT... | AGTTCTCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGAGTAAAAGAGAGAGACTCTGTCTTCAAAACAAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTT... |
Task1_train_22393 | This is a variant in ABCC6 (ATP binding cassette subfamily C member 6), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | AGAGAGACTCTGTCTTCAAAACAAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTTCAAAGGTCCCACTAGCAGGGGTCCGACAGTCTCTGCCTCTGTCTGTCCCT... | AGAGAGACTCTGTCTTCAAAACAAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTTCAAAGGTCCCACTAGCAGGGGTCCGACAGTCTCTGCCTCTGTCTGTCCCT... |
Task1_train_22394 | Gene ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; ABCC6-related disorder | CAAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTTCAAAGGTCCCACTAGCAGGGGTCCGACAGTCTCTGCCTCTGTCTGTCCCTCAAGCCCAGTTTGGGGATGTG... | CAAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTTCAAAGGTCCCACTAGCAGGGGTCCGACAGTCTCTGCCTCTGTCTGTCCCTCAAGCCCAGTTTGGGGATGTG... |
Task1_train_22395 | A genomic change on Chromosome 16 affects ABCC6 (ATP binding cassette subfamily C member 6). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | CAAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTTCAAAGGTCCCACTAGCAGGGGTCCGACAGTCTCTGCCTCTGTCTGTCCCTCAAGCCCAGTTTGGGGATGTG... | CAAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTTCAAAGGTCCCACTAGCAGGGGTCCGACAGTCTCTGCCTCTGTCTGTCCCTCAAGCCCAGTTTGGGGATGTG... |
Task1_train_22396 | This mutation is located in gene ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Arterial calcification, generalized, of infancy, 2 | AAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTTCAAAGGTCCCACTAGCAGGGGTCCGACAGTCTCTGCCTCTGTCTGTCCCTCAAGCCCAGTTTGGGGATGTGG... | AAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTTCAAAGGTCCCACTAGCAGGGGTCCGACAGTCTCTGCCTCTGTCTGTCCCTCAAGCCCAGTTTGGGGATGTGG... |
Task1_train_22397 | An alteration has been detected in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | AAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTTCAAAGGTCCCACTAGCAGGGGTCCGACAGTCTCTGCCTCTGTCTGTCCCTCAAGCCCAGTTTGGGGATGTGG... | AAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTTCAAAGGTCCCACTAGCAGGGGTCCGACAGTCTCTGCCTCTGTCTGTCCCTCAAGCCCAGTTTGGGGATGTGG... |
Task1_train_22398 | A variant on Chromosome 16 in gene ABCC6 (ATP binding cassette subfamily C member 6) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Pseudoxanthoma elasticum, forme fruste | AAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTTCAAAGGTCCCACTAGCAGGGGTCCGACAGTCTCTGCCTCTGTCTGTCCCTCAAGCCCAGTTTGGGGATGTGG... | AAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTTCAAAGGTCCCACTAGCAGGGGTCCGACAGTCTCTGCCTCTGTCTGTCCCTCAAGCCCAGTTTGGGGATGTGG... |
Task1_train_22399 | Here is a mutation in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum | AAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTTCAAAGGTCCCACTAGCAGGGGTCCGACAGTCTCTGCCTCTGTCTGTCCCTCAAGCCCAGTTTGGGGATGTGG... | AAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAGGTTGCAAGTTCACCTTAGCTGAGTCTGGCTCTTGTAGAGCTGCGTGTCCCTCCTTGGTGGAGGGACTCCACACACCATGTTGGTTTGGACACAGGGTCTTCAAAGGTCCCACTAGCAGGGGTCCGACAGTCTCTGCCTCTGTCTGTCCCTCAAGCCCAGTTTGGGGATGTGG... |
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