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_3600 | Consider a variant on Chromosome 2 in gene FBXO11 (F-box protein 11). Determine its clinical classification and disease relevance. | Pathogenic; Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | CAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACTGCAACCCCTGCCTCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCCAAGCAGCTGGGATTACAAGCACCTGCCACCACACCTGGCTAATTTTTGTATTTTTAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAATGATCCACCCACCTGGGCCTCCCCCAAAGTGCTGGGGTTACAGGCATGAGCCACTGCACCCGGCCACTGTTGCTAATTCTTTAATCTATTCCTTTAGCTTAGTATAATGAATCACATTCTGGTCATAACCAATTTG... | CAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACTGCAACCCCTGCCTCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCCAAGCAGCTGGGATTACAAGCACCTGCCACCACACCTGGCTAATTTTTGTATTTTTAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAATGATCCACCCACCTGGGCCTCCCCCAAAGTGCTGGGGTTACAGGCATGAGCCACTGCACCCGGCCACTGTTGCTAATTCTTTAATCTATTCCTTTAGCTTAGTATAATGAATCACATTCTGGTCATAACCAATTTG... |
Task1_train_3601 | This variant lies on Chromosome 2 and affects the gene LHCGR, STON1-GTF2A1L (luteinizing hormone/choriogonadotropin receptor| STON1-GTF2A1L readthrough). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Leydig cell hypoplasia, type II | AAAAACCATCCTTCCCTGTGGGGCTGGGGGTCAGGAATTAACTGGGAAGGGGCATGAGGGAACTTTCTGAGGGTGATGATATTATATTACTATGCCTTGATAGAAGTTTGGGTCAGAAGTTTGGGTCACATGGTGTATGCATTTCTCAAAACTCATTAAATGGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATG... | AAAAACCATCCTTCCCTGTGGGGCTGGGGGTCAGGAATTAACTGGGAAGGGGCATGAGGGAACTTTCTGAGGGTGATGATATTATATTACTATGCCTTGATAGAAGTTTGGGTCAGAAGTTTGGGTCACATGGTGTATGCATTTCTCAAAACTCATTAAATGGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATG... |
Task1_train_3602 | This mutation occurs in LHCGR, STON1-GTF2A1L (luteinizing hormone/choriogonadotropin receptor| STON1-GTF2A1L readthrough) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Leydig cell agenesis | TGATAGAAGTTTGGGTCAGAAGTTTGGGTCACATGGTGTATGCATTTCTCAAAACTCATTAAATGGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTT... | TGATAGAAGTTTGGGTCAGAAGTTTGGGTCACATGGTGTATGCATTTCTCAAAACTCATTAAATGGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTT... |
Task1_train_3603 | A mutation found in LHCGR, STON1-GTF2A1L (luteinizing hormone/choriogonadotropin receptor| STON1-GTF2A1L readthrough) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Luteinizing hormone resistance, female | TGATAGAAGTTTGGGTCAGAAGTTTGGGTCACATGGTGTATGCATTTCTCAAAACTCATTAAATGGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTT... | TGATAGAAGTTTGGGTCAGAAGTTTGGGTCACATGGTGTATGCATTTCTCAAAACTCATTAAATGGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTT... |
Task1_train_3604 | Consider this mutation in STON1-GTF2A1L, LHCGR (STON1-GTF2A1L readthrough| luteinizing hormone/choriogonadotropin receptor) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Gonadotropin-independent familial sexual precocity | TTTCTCAAAACTCATTAAATGGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAG... | TTTCTCAAAACTCATTAAATGGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAG... |
Task1_train_3605 | This variant lies on Chromosome 2 and affects the gene STON1-GTF2A1L, LHCGR (STON1-GTF2A1L readthrough| luteinizing hormone/choriogonadotropin receptor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Leydig cell agenesis | TTTCTCAAAACTCATTAAATGGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAG... | TTTCTCAAAACTCATTAAATGGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAG... |
Task1_train_3606 | With a mutation on Chromosome 2 in gene LHCGR, STON1-GTF2A1L (luteinizing hormone/choriogonadotropin receptor| STON1-GTF2A1L readthrough), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Leydig cell adenoma, somatic, with male-limited precocious puberty | TTCTCAAAACTCATTAAATGGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGG... | TTCTCAAAACTCATTAAATGGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGG... |
Task1_train_3607 | Given this context: Chromosome 2, gene LHCGR, STON1-GTF2A1L (luteinizing hormone/choriogonadotropin receptor| STON1-GTF2A1L readthrough) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | CTCAAAACTCATTAAATGGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAA... | CTCAAAACTCATTAAATGGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAA... |
Task1_train_3608 | A mutation on Chromosome 2 affecting LHCGR, STON1-GTF2A1L (luteinizing hormone/choriogonadotropin receptor| STON1-GTF2A1L readthrough) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | CTCATTAAATGGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAACTTTGAA... | CTCATTAAATGGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAACTTTGAA... |
Task1_train_3609 | A change on Chromosome 2 affects gene LHCGR, STON1-GTF2A1L (luteinizing hormone/choriogonadotropin receptor| STON1-GTF2A1L readthrough). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | GGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAACTTTGAATGCATATTAA... | GGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAACTTTGAATGCATATTAA... |
Task1_train_3610 | The following genetic variant occurs in STON1-GTF2A1L, LHCGR (STON1-GTF2A1L readthrough| luteinizing hormone/choriogonadotropin receptor) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Gonadotropin-independent familial sexual precocity | GGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAACTTTGAATGCATATTAA... | GGTATGCTTAAGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAACTTTGAATGCATATTAA... |
Task1_train_3611 | Here’s a variant in STON1-GTF2A1L, LHCGR (STON1-GTF2A1L readthrough| luteinizing hormone/choriogonadotropin receptor) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Gonadotropin-independent familial sexual precocity | AGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAACTTTGAATGCATATTAAACCTTTAGAT... | AGATTCGTCCATTTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAACTTTGAATGCATATTAAACCTTTAGAT... |
Task1_train_3612 | Assess the clinical impact of this variant on gene LHCGR, STON1-GTF2A1L (luteinizing hormone/choriogonadotropin receptor| STON1-GTF2A1L readthrough), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | TTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAACTTTGAATGCATATTAAACCTTTAGATGACTGTTTTACC... | TTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAACTTTGAATGCATATTAAACCTTTAGATGACTGTTTTACC... |
Task1_train_3613 | This variant affects gene LHCGR, STON1-GTF2A1L (luteinizing hormone/choriogonadotropin receptor| STON1-GTF2A1L readthrough) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Gonadotropin-independent familial sexual precocity | TTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAACTTTGAATGCATATTAAACCTTTAGATGACTGTTTTACC... | TTCATTATATATAAATTTTATCTAGAAATGTAAATATCTTGGTTAGTAATAAAAGTGCCAAAATGTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAACTTTGAATGCATATTAAACCTTTAGATGACTGTTTTACC... |
Task1_train_3614 | A variant was discovered on Chromosome 2, affecting STON1-GTF2A1L, LHCGR (STON1-GTF2A1L readthrough| luteinizing hormone/choriogonadotropin receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Leydig cell agenesis | GTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAACTTTGAATGCATATTAAACCTTTAGATGACTGTTTTACCAATATGGGAGTCAGTAAAATACAGTGATTAAGAGGCTGGGGTCCTGAATCAGAGCTTTGAGTTT... | GTTTAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAACTTTGAATGCATATTAAACCTTTAGATGACTGTTTTACCAATATGGGAGTCAGTAAAATACAGTGATTAAGAGGCTGGGGTCCTGAATCAGAGCTTTGAGTTT... |
Task1_train_3615 | Given a variant located on Chromosome 2 and affecting LHCGR, STON1-GTF2A1L (luteinizing hormone/choriogonadotropin receptor| STON1-GTF2A1L readthrough), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; LHCGR-related disorder | TAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAACTTTGAATGCATATTAAACCTTTAGATGACTGTTTTACCAATATGGGAGTCAGTAAAATACAGTGATTAAGAGGCTGGGGTCCTGAATCAGAGCTTTGAGTTTAAA... | TAGGGCTAAGTACTGATGTCTACAAATTACTCTGAAATGCATCAAAAATAAGATGAATTGATAAATAATGAATAATTATATACATATGTAATGAAGCTAATGTGGTAAAATATTGTTGAACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAACTTTGAATGCATATTAAACCTTTAGATGACTGTTTTACCAATATGGGAGTCAGTAAAATACAGTGATTAAGAGGCTGGGGTCCTGAATCAGAGCTTTGAGTTTAAA... |
Task1_train_3616 | The gene LHCGR, STON1-GTF2A1L (luteinizing hormone/choriogonadotropin receptor| STON1-GTF2A1L readthrough) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Leydig cell agenesis | ACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAACTTTGAATGCATATTAAACCTTTAGATGACTGTTTTACCAATATGGGAGTCAGTAAAATACAGTGATTAAGAGGCTGGGGTCCTGAATCAGAGCTTTGAGTTTAAATTCTATTAGTTGGATCTTTTATTCGTTTTGAGAACTTTGACAAATTGTAGGTTTTGCTCTCCTATAAAATGTGAATAGTATCTACATCATAGAGTTTTATGAAGATTAAATGGGTTAAA... | ACCTAAGTGGTGCTCTATGGGTGTTCACTGCACAATTCTTTCAATTTTTCTGCACATTTGAAAAGATAATAAAACGTTGGGGAAAATTTAAGGAACTTTGAATGCATATTAAACCTTTAGATGACTGTTTTACCAATATGGGAGTCAGTAAAATACAGTGATTAAGAGGCTGGGGTCCTGAATCAGAGCTTTGAGTTTAAATTCTATTAGTTGGATCTTTTATTCGTTTTGAGAACTTTGACAAATTGTAGGTTTTGCTCTCCTATAAAATGTGAATAGTATCTACATCATAGAGTTTTATGAAGATTAAATGGGTTAAA... |
Task1_train_3617 | Here’s a variant in STON1-GTF2A1L, LHCGR (STON1-GTF2A1L readthrough| luteinizing hormone/choriogonadotropin receptor) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Gonadotropin-independent familial sexual precocity | ATATGGGAGTCAGTAAAATACAGTGATTAAGAGGCTGGGGTCCTGAATCAGAGCTTTGAGTTTAAATTCTATTAGTTGGATCTTTTATTCGTTTTGAGAACTTTGACAAATTGTAGGTTTTGCTCTCCTATAAAATGTGAATAGTATCTACATCATAGAGTTTTATGAAGATTAAATGGGTTAAATTATATAACGTTTTTCAAGATGTTTGGTATAGAATTAGCTTTCAATAAGAGTTACTTTAAAAAAGTCAAAGGAGCATATAAAAAACACTGTAGTTAAAACCATAGTTTTGTTGTCCTATAAGAGACAATTCTAGT... | ATATGGGAGTCAGTAAAATACAGTGATTAAGAGGCTGGGGTCCTGAATCAGAGCTTTGAGTTTAAATTCTATTAGTTGGATCTTTTATTCGTTTTGAGAACTTTGACAAATTGTAGGTTTTGCTCTCCTATAAAATGTGAATAGTATCTACATCATAGAGTTTTATGAAGATTAAATGGGTTAAATTATATAACGTTTTTCAAGATGTTTGGTATAGAATTAGCTTTCAATAAGAGTTACTTTAAAAAAGTCAAAGGAGCATATAAAAAACACTGTAGTTAAAACCATAGTTTTGTTGTCCTATAAGAGACAATTCTAGT... |
Task1_train_3618 | Consider a variant on Chromosome 2 in gene LHCGR, STON1-GTF2A1L (luteinizing hormone/choriogonadotropin receptor| STON1-GTF2A1L readthrough). Determine its clinical classification and disease relevance. | Pathogenic; Gonadotropin-independent familial sexual precocity | AAAGGAGCATATAAAAAACACTGTAGTTAAAACCATAGTTTTGTTGTCCTATAAGAGACAATTCTAGTAAGTAAAAATATCTTCCAGCAAATATTGAATGTCTTTTCCTATACTCTCCAAAGGATAGAAATGATGAAACTTAATTATTTTTAAATATTTAAACATTTTATTTCATTCAAATAAAAATATAAGCTCTAGAAAAAATTGTTTTCATTATATGTTTCATAACTTCAGAGTAATTCTAACTCAGCACATTTGTAGTGTACCATTGCCAAGATCTTGAGGTAGGAAGCAGGAAAACAAAATGCACTGAGACAGGG... | AAAGGAGCATATAAAAAACACTGTAGTTAAAACCATAGTTTTGTTGTCCTATAAGAGACAATTCTAGTAAGTAAAAATATCTTCCAGCAAATATTGAATGTCTTTTCCTATACTCTCCAAAGGATAGAAATGATGAAACTTAATTATTTTTAAATATTTAAACATTTTATTTCATTCAAATAAAAATATAAGCTCTAGAAAAAATTGTTTTCATTATATGTTTCATAACTTCAGAGTAATTCTAACTCAGCACATTTGTAGTGTACCATTGCCAAGATCTTGAGGTAGGAAGCAGGAAAACAAAATGCACTGAGACAGGG... |
Task1_train_3619 | A variant on Chromosome 2 in gene LHCGR, STON1-GTF2A1L (luteinizing hormone/choriogonadotropin receptor| STON1-GTF2A1L readthrough) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Gonadotropin-independent familial sexual precocity | AAACACTGTAGTTAAAACCATAGTTTTGTTGTCCTATAAGAGACAATTCTAGTAAGTAAAAATATCTTCCAGCAAATATTGAATGTCTTTTCCTATACTCTCCAAAGGATAGAAATGATGAAACTTAATTATTTTTAAATATTTAAACATTTTATTTCATTCAAATAAAAATATAAGCTCTAGAAAAAATTGTTTTCATTATATGTTTCATAACTTCAGAGTAATTCTAACTCAGCACATTTGTAGTGTACCATTGCCAAGATCTTGAGGTAGGAAGCAGGAAAACAAAATGCACTGAGACAGGGTTCCTACTCACGAGG... | AAACACTGTAGTTAAAACCATAGTTTTGTTGTCCTATAAGAGACAATTCTAGTAAGTAAAAATATCTTCCAGCAAATATTGAATGTCTTTTCCTATACTCTCCAAAGGATAGAAATGATGAAACTTAATTATTTTTAAATATTTAAACATTTTATTTCATTCAAATAAAAATATAAGCTCTAGAAAAAATTGTTTTCATTATATGTTTCATAACTTCAGAGTAATTCTAACTCAGCACATTTGTAGTGTACCATTGCCAAGATCTTGAGGTAGGAAGCAGGAAAACAAAATGCACTGAGACAGGGTTCCTACTCACGAGG... |
Task1_train_3620 | A genetic alteration is present in STON1-GTF2A1L, LHCGR (STON1-GTF2A1L readthrough| luteinizing hormone/choriogonadotropin receptor) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Leydig cell agenesis | CAATTCTAGTAAGTAAAAATATCTTCCAGCAAATATTGAATGTCTTTTCCTATACTCTCCAAAGGATAGAAATGATGAAACTTAATTATTTTTAAATATTTAAACATTTTATTTCATTCAAATAAAAATATAAGCTCTAGAAAAAATTGTTTTCATTATATGTTTCATAACTTCAGAGTAATTCTAACTCAGCACATTTGTAGTGTACCATTGCCAAGATCTTGAGGTAGGAAGCAGGAAAACAAAATGCACTGAGACAGGGTTCCTACTCACGAGGAGTTTACAGTCTACAGCTTAATGTTTCACTAAGCAAATAGGCT... | CAATTCTAGTAAGTAAAAATATCTTCCAGCAAATATTGAATGTCTTTTCCTATACTCTCCAAAGGATAGAAATGATGAAACTTAATTATTTTTAAATATTTAAACATTTTATTTCATTCAAATAAAAATATAAGCTCTAGAAAAAATTGTTTTCATTATATGTTTCATAACTTCAGAGTAATTCTAACTCAGCACATTTGTAGTGTACCATTGCCAAGATCTTGAGGTAGGAAGCAGGAAAACAAAATGCACTGAGACAGGGTTCCTACTCACGAGGAGTTTACAGTCTACAGCTTAATGTTTCACTAAGCAAATAGGCT... |
Task1_train_3621 | This mutation occurs in LHCGR, STON1-GTF2A1L (luteinizing hormone/choriogonadotropin receptor| STON1-GTF2A1L readthrough) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Leydig cell agenesis | TATTGAATGTCTTTTCCTATACTCTCCAAAGGATAGAAATGATGAAACTTAATTATTTTTAAATATTTAAACATTTTATTTCATTCAAATAAAAATATAAGCTCTAGAAAAAATTGTTTTCATTATATGTTTCATAACTTCAGAGTAATTCTAACTCAGCACATTTGTAGTGTACCATTGCCAAGATCTTGAGGTAGGAAGCAGGAAAACAAAATGCACTGAGACAGGGTTCCTACTCACGAGGAGTTTACAGTCTACAGCTTAATGTTTCACTAAGCAAATAGGCTGAAATGTGCTTTCAGATGTTTACCTTAAATTAT... | TATTGAATGTCTTTTCCTATACTCTCCAAAGGATAGAAATGATGAAACTTAATTATTTTTAAATATTTAAACATTTTATTTCATTCAAATAAAAATATAAGCTCTAGAAAAAATTGTTTTCATTATATGTTTCATAACTTCAGAGTAATTCTAACTCAGCACATTTGTAGTGTACCATTGCCAAGATCTTGAGGTAGGAAGCAGGAAAACAAAATGCACTGAGACAGGGTTCCTACTCACGAGGAGTTTACAGTCTACAGCTTAATGTTTCACTAAGCAAATAGGCTGAAATGTGCTTTCAGATGTTTACCTTAAATTAT... |
Task1_train_3622 | A variant affecting Chromosome 2, within the gene LHCGR, STON1-GTF2A1L (luteinizing hormone/choriogonadotropin receptor| STON1-GTF2A1L readthrough), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Pseudohermaphroditism | TCTAAGGCCCTTCCTGTTTTGTCCCTAACTCGTATCTAGAAAGTACTATCTGCTGGTCTATGAACACATCTTATAATTCCTCCTCTGGACCATTCTTCTGGCTGTCCTCTGCTTGGAAGGCATTTTTCCTCTCTTTTTGCCTAAGTTATGCCCAGCTCAAAGCCCACCTTTCTCAGAGGCTTTCTATACTTTCTTTTCCTGCTGCCTTTGAAATCCCAGAGGACTTTACCTCTCTCTGGGGAGGCTTCATGCTTTGCCTTCTGTTTTAGTTAGTAGTCAATGTGCAGTTTATACACTATTTGGAGATGCTTCTTCCTATG... | TCTAAGGCCCTTCCTGTTTTGTCCCTAACTCGTATCTAGAAAGTACTATCTGCTGGTCTATGAACACATCTTATAATTCCTCCTCTGGACCATTCTTCTGGCTGTCCTCTGCTTGGAAGGCATTTTTCCTCTCTTTTTGCCTAAGTTATGCCCAGCTCAAAGCCCACCTTTCTCAGAGGCTTTCTATACTTTCTTTTCCTGCTGCCTTTGAAATCCCAGAGGACTTTACCTCTCTCTGGGGAGGCTTCATGCTTTGCCTTCTGTTTTAGTTAGTAGTCAATGTGCAGTTTATACACTATTTGGAGATGCTTCTTCCTATG... |
Task1_train_3623 | A change on Chromosome 2 affects gene LHCGR, STON1-GTF2A1L (luteinizing hormone/choriogonadotropin receptor| STON1-GTF2A1L readthrough). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Leydig cell agenesis | GGCAGTGCACCAAGGATACCAATTTTTAGAATCCAGTGATATAAAAGAGAGTCCTCTGAGATGATCTCTTCTTTTGCTTCACATCTATCTCTTCATTTCAGAGTCATTCCAATCCATGTTTTCTCTTTTTTCTTTAAGGGTGAGCTCCTTTATTGCCTCATCACAATTTTGCCATGGGCTGTAACCAAAGCAGAAAGAGTGAGAGGGATATGGATTTTAGGAGCAGAATTAAATCAGGGTCACTGGGCTTTAGGTATAAAGAAATGAGGCCGGGGGGTGGTGACTCATGCCTGTTTTCCCAGCACTTTGGGAGGCCGAGG... | GGCAGTGCACCAAGGATACCAATTTTTAGAATCCAGTGATATAAAAGAGAGTCCTCTGAGATGATCTCTTCTTTTGCTTCACATCTATCTCTTCATTTCAGAGTCATTCCAATCCATGTTTTCTCTTTTTTCTTTAAGGGTGAGCTCCTTTATTGCCTCATCACAATTTTGCCATGGGCTGTAACCAAAGCAGAAAGAGTGAGAGGGATATGGATTTTAGGAGCAGAATTAAATCAGGGTCACTGGGCTTTAGGTATAAAGAAATGAGGCCGGGGGGTGGTGACTCATGCCTGTTTTCCCAGCACTTTGGGAGGCCGAGG... |
Task1_train_3624 | Given this variant in gene LHCGR, STON1-GTF2A1L (luteinizing hormone/choriogonadotropin receptor| STON1-GTF2A1L readthrough) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Leydig cell hypoplasia, type II | TATAAAAGAGAGTCCTCTGAGATGATCTCTTCTTTTGCTTCACATCTATCTCTTCATTTCAGAGTCATTCCAATCCATGTTTTCTCTTTTTTCTTTAAGGGTGAGCTCCTTTATTGCCTCATCACAATTTTGCCATGGGCTGTAACCAAAGCAGAAAGAGTGAGAGGGATATGGATTTTAGGAGCAGAATTAAATCAGGGTCACTGGGCTTTAGGTATAAAGAAATGAGGCCGGGGGGTGGTGACTCATGCCTGTTTTCCCAGCACTTTGGGAGGCCGAGGAGGGCAGGTCATGAGGTCAAGAGATGGAGACAATCCTGT... | TATAAAAGAGAGTCCTCTGAGATGATCTCTTCTTTTGCTTCACATCTATCTCTTCATTTCAGAGTCATTCCAATCCATGTTTTCTCTTTTTTCTTTAAGGGTGAGCTCCTTTATTGCCTCATCACAATTTTGCCATGGGCTGTAACCAAAGCAGAAAGAGTGAGAGGGATATGGATTTTAGGAGCAGAATTAAATCAGGGTCACTGGGCTTTAGGTATAAAGAAATGAGGCCGGGGGGTGGTGACTCATGCCTGTTTTCCCAGCACTTTGGGAGGCCGAGGAGGGCAGGTCATGAGGTCAAGAGATGGAGACAATCCTGT... |
Task1_train_3625 | Here is a mutation in FSHR (follicle stimulating hormone receptor) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Ovarian dysgenesis 1 | TGGGAAGAGACGATTGCTTTTTCTTCTGGCTCTCTAAGGACTTCCTCCAAAATGCTTTTGGGATCAAGTTTTTAAATGTTTGCCAAAGGGTAAGAGGAGGAAGGGCTGGCTTCTGACATAGAAAGAGAAGACGCAGAGCTTTGTCTGCTAGCCAAGGCACAGAGCTTGGTGGAATTTATAGTTGATATTTATGACCGAAATTATCCAGATGGGGTCATTTATAAAATAGATGTGGGTAGTATGGTTATTTATTGAGAGCAATATGCTATAATGGAATGAGTTCTAGACTGAGGGTCAGGAGAGGGCACTAGACCAGGCAC... | TGGGAAGAGACGATTGCTTTTTCTTCTGGCTCTCTAAGGACTTCCTCCAAAATGCTTTTGGGATCAAGTTTTTAAATGTTTGCCAAAGGGTAAGAGGAGGAAGGGCTGGCTTCTGACATAGAAAGAGAAGACGCAGAGCTTTGTCTGCTAGCCAAGGCACAGAGCTTGGTGGAATTTATAGTTGATATTTATGACCGAAATTATCCAGATGGGGTCATTTATAAAATAGATGTGGGTAGTATGGTTATTTATTGAGAGCAATATGCTATAATGGAATGAGTTCTAGACTGAGGGTCAGGAGAGGGCACTAGACCAGGCAC... |
Task1_train_3626 | Gene FSHR (follicle stimulating hormone receptor) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Ovarian hyperstimulation syndrome | TTTTCTTCTGGCTCTCTAAGGACTTCCTCCAAAATGCTTTTGGGATCAAGTTTTTAAATGTTTGCCAAAGGGTAAGAGGAGGAAGGGCTGGCTTCTGACATAGAAAGAGAAGACGCAGAGCTTTGTCTGCTAGCCAAGGCACAGAGCTTGGTGGAATTTATAGTTGATATTTATGACCGAAATTATCCAGATGGGGTCATTTATAAAATAGATGTGGGTAGTATGGTTATTTATTGAGAGCAATATGCTATAATGGAATGAGTTCTAGACTGAGGGTCAGGAGAGGGCACTAGACCAGGCACAGGTCTGGGAGGAGAGAA... | TTTTCTTCTGGCTCTCTAAGGACTTCCTCCAAAATGCTTTTGGGATCAAGTTTTTAAATGTTTGCCAAAGGGTAAGAGGAGGAAGGGCTGGCTTCTGACATAGAAAGAGAAGACGCAGAGCTTTGTCTGCTAGCCAAGGCACAGAGCTTGGTGGAATTTATAGTTGATATTTATGACCGAAATTATCCAGATGGGGTCATTTATAAAATAGATGTGGGTAGTATGGTTATTTATTGAGAGCAATATGCTATAATGGAATGAGTTCTAGACTGAGGGTCAGGAGAGGGCACTAGACCAGGCACAGGTCTGGGAGGAGAGAA... |
Task1_train_3627 | The variant affects gene FSHR (follicle stimulating hormone receptor), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Ovarian hyperstimulation syndrome | CAAAGGGTAAGAGGAGGAAGGGCTGGCTTCTGACATAGAAAGAGAAGACGCAGAGCTTTGTCTGCTAGCCAAGGCACAGAGCTTGGTGGAATTTATAGTTGATATTTATGACCGAAATTATCCAGATGGGGTCATTTATAAAATAGATGTGGGTAGTATGGTTATTTATTGAGAGCAATATGCTATAATGGAATGAGTTCTAGACTGAGGGTCAGGAGAGGGCACTAGACCAGGCACAGGTCTGGGAGGAGAGAAGTGAACTAACGTTTACCATGCCAGTTACAGCACTAGGCTCTTCACAACCATTTTCTTATCTACTT... | CAAAGGGTAAGAGGAGGAAGGGCTGGCTTCTGACATAGAAAGAGAAGACGCAGAGCTTTGTCTGCTAGCCAAGGCACAGAGCTTGGTGGAATTTATAGTTGATATTTATGACCGAAATTATCCAGATGGGGTCATTTATAAAATAGATGTGGGTAGTATGGTTATTTATTGAGAGCAATATGCTATAATGGAATGAGTTCTAGACTGAGGGTCAGGAGAGGGCACTAGACCAGGCACAGGTCTGGGAGGAGAGAAGTGAACTAACGTTTACCATGCCAGTTACAGCACTAGGCTCTTCACAACCATTTTCTTATCTACTT... |
Task1_train_3628 | Given a variant located on Chromosome 2 and affecting FSHR (follicle stimulating hormone receptor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Ovarian dysgenesis 1 | AGCTTGGTGGAATTTATAGTTGATATTTATGACCGAAATTATCCAGATGGGGTCATTTATAAAATAGATGTGGGTAGTATGGTTATTTATTGAGAGCAATATGCTATAATGGAATGAGTTCTAGACTGAGGGTCAGGAGAGGGCACTAGACCAGGCACAGGTCTGGGAGGAGAGAAGTGAACTAACGTTTACCATGCCAGTTACAGCACTAGGCTCTTCACAACCATTTTCTTATCTACTTCTTACAATAAGCTCAAAAGTTAGCTATATAACCGTCTCTAGTTTACAGAAATGGCAGCTGAGCCTAGTGAGGTCAGGTC... | AGCTTGGTGGAATTTATAGTTGATATTTATGACCGAAATTATCCAGATGGGGTCATTTATAAAATAGATGTGGGTAGTATGGTTATTTATTGAGAGCAATATGCTATAATGGAATGAGTTCTAGACTGAGGGTCAGGAGAGGGCACTAGACCAGGCACAGGTCTGGGAGGAGAGAAGTGAACTAACGTTTACCATGCCAGTTACAGCACTAGGCTCTTCACAACCATTTTCTTATCTACTTCTTACAATAAGCTCAAAAGTTAGCTATATAACCGTCTCTAGTTTACAGAAATGGCAGCTGAGCCTAGTGAGGTCAGGTC... |
Task1_train_3629 | This mutation is located in gene FSHR (follicle stimulating hormone receptor) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Ovarian hyperstimulation syndrome | TAGGCTCTTCACAACCATTTTCTTATCTACTTCTTACAATAAGCTCAAAAGTTAGCTATATAACCGTCTCTAGTTTACAGAAATGGCAGCTGAGCCTAGTGAGGTCAGGTCCTGGCTTATTATGGAGTCCTAATAAAATCGCAGTGCTGTCTGATTCCAAACTGCTGTGTTCTTAACATTACGATCCATATGCATGTCATATAATAGGTGTTAGGGTTCAAGTAGAGAAGCAGAACCAGTGATATATTTGCATGCATGTAAATATATATAGGTGGTAAATATTTGTTACAGGCTCACACAGTTGTGGGGAGCTGGTTAAC... | TAGGCTCTTCACAACCATTTTCTTATCTACTTCTTACAATAAGCTCAAAAGTTAGCTATATAACCGTCTCTAGTTTACAGAAATGGCAGCTGAGCCTAGTGAGGTCAGGTCCTGGCTTATTATGGAGTCCTAATAAAATCGCAGTGCTGTCTGATTCCAAACTGCTGTGTTCTTAACATTACGATCCATATGCATGTCATATAATAGGTGTTAGGGTTCAAGTAGAGAAGCAGAACCAGTGATATATTTGCATGCATGTAAATATATATAGGTGGTAAATATTTGTTACAGGCTCACACAGTTGTGGGGAGCTGGTTAAC... |
Task1_train_3630 | This gene mutation involves FSHR (follicle stimulating hormone receptor) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ovarian hyperstimulation syndrome | AGGCTCTTCACAACCATTTTCTTATCTACTTCTTACAATAAGCTCAAAAGTTAGCTATATAACCGTCTCTAGTTTACAGAAATGGCAGCTGAGCCTAGTGAGGTCAGGTCCTGGCTTATTATGGAGTCCTAATAAAATCGCAGTGCTGTCTGATTCCAAACTGCTGTGTTCTTAACATTACGATCCATATGCATGTCATATAATAGGTGTTAGGGTTCAAGTAGAGAAGCAGAACCAGTGATATATTTGCATGCATGTAAATATATATAGGTGGTAAATATTTGTTACAGGCTCACACAGTTGTGGGGAGCTGGTTAACC... | AGGCTCTTCACAACCATTTTCTTATCTACTTCTTACAATAAGCTCAAAAGTTAGCTATATAACCGTCTCTAGTTTACAGAAATGGCAGCTGAGCCTAGTGAGGTCAGGTCCTGGCTTATTATGGAGTCCTAATAAAATCGCAGTGCTGTCTGATTCCAAACTGCTGTGTTCTTAACATTACGATCCATATGCATGTCATATAATAGGTGTTAGGGTTCAAGTAGAGAAGCAGAACCAGTGATATATTTGCATGCATGTAAATATATATAGGTGGTAAATATTTGTTACAGGCTCACACAGTTGTGGGGAGCTGGTTAACC... |
Task1_train_3631 | The following genetic variant occurs in FSHR (follicle stimulating hormone receptor) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Ovarian dysgenesis 1 | GAGCCTAGTGAGGTCAGGTCCTGGCTTATTATGGAGTCCTAATAAAATCGCAGTGCTGTCTGATTCCAAACTGCTGTGTTCTTAACATTACGATCCATATGCATGTCATATAATAGGTGTTAGGGTTCAAGTAGAGAAGCAGAACCAGTGATATATTTGCATGCATGTAAATATATATAGGTGGTAAATATTTGTTACAGGCTCACACAGTTGTGGGGAGCTGGTTAACCTGTCTTTGTAAGGATGTCTCCACAGCTGATGCCAGAACTAGAAGTCCTCAGGGTGGGCGATCATAAAGGGAAGATCACAGCATGCTGGAA... | GAGCCTAGTGAGGTCAGGTCCTGGCTTATTATGGAGTCCTAATAAAATCGCAGTGCTGTCTGATTCCAAACTGCTGTGTTCTTAACATTACGATCCATATGCATGTCATATAATAGGTGTTAGGGTTCAAGTAGAGAAGCAGAACCAGTGATATATTTGCATGCATGTAAATATATATAGGTGGTAAATATTTGTTACAGGCTCACACAGTTGTGGGGAGCTGGTTAACCTGTCTTTGTAAGGATGTCTCCACAGCTGATGCCAGAACTAGAAGTCCTCAGGGTGGGCGATCATAAAGGGAAGATCACAGCATGCTGGAA... |
Task1_train_3632 | Consider a variant on Chromosome 2 in gene FSHR (follicle stimulating hormone receptor). Determine its clinical classification and disease relevance. | Pathogenic; Ovarian dysgenesis 1 | TCATTTGTCTCCCGAGTACTCTAAGAACAGGGTACATGAACTAAGCAGTACAAGTTTTGAGTACTTTGTATTCTTGAGTACATGGACTATATGCCCAACACTCTCCATTTGTTAGCCCTGGGTCCTTCCTTGTACTTCATAGATAGATCATGACTTGATATATTAAGTTGTATATTTAATGTATTGCCTGACTCCTCTCTATTCCCACCCCCAATGAGAATATAAGCTTTCTATGAGGAGGAACTTTCCTTTGTTTCCTGCATGGCACAAGACTGATGCTTAAAAATTTATCTGATGAGTGAAAAAATATTTATGTGTGT... | TCATTTGTCTCCCGAGTACTCTAAGAACAGGGTACATGAACTAAGCAGTACAAGTTTTGAGTACTTTGTATTCTTGAGTACATGGACTATATGCCCAACACTCTCCATTTGTTAGCCCTGGGTCCTTCCTTGTACTTCATAGATAGATCATGACTTGATATATTAAGTTGTATATTTAATGTATTGCCTGACTCCTCTCTATTCCCACCCCCAATGAGAATATAAGCTTTCTATGAGGAGGAACTTTCCTTTGTTTCCTGCATGGCACAAGACTGATGCTTAAAAATTTATCTGATGAGTGAAAAAATATTTATGTGTGT... |
Task1_train_3633 | A variant on Chromosome 2 in gene FSHR (follicle stimulating hormone receptor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Ovarian hyperstimulation syndrome | TGCTTGGCATGGTTATGAGGGAATCGCCATATCTTCCTGATTGGGCCTCCTTCCTGATCTTTTTCTTTGGGCAACAAAAGCCTTGCCAGGCAATAACTAGCTTTATTGATGCATGAGTTATTCTTTCCTTTGGAACAGATGTTGTATCACAGGAGATCATCATTCAAACAGCAATTTTAAATACTTGAATCACACCCCAGAATCATAAATTATTAACATGACTCCACATTGTGATTCTGAAATGTAAAGATGAGAGAGGAACGCAGAACTGGAGAGTGATTTAAGTGGAGAAATGCCAAAGTTACCCAAACAAAAAAGGA... | TGCTTGGCATGGTTATGAGGGAATCGCCATATCTTCCTGATTGGGCCTCCTTCCTGATCTTTTTCTTTGGGCAACAAAAGCCTTGCCAGGCAATAACTAGCTTTATTGATGCATGAGTTATTCTTTCCTTTGGAACAGATGTTGTATCACAGGAGATCATCATTCAAACAGCAATTTTAAATACTTGAATCACACCCCAGAATCATAAATTATTAACATGACTCCACATTGTGATTCTGAAATGTAAAGATGAGAGAGGAACGCAGAACTGGAGAGTGATTTAAGTGGAGAAATGCCAAAGTTACCCAAACAAAAAAGGA... |
Task1_train_3634 | This alteration occurs within gene FSHR (follicle stimulating hormone receptor) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Amenorrhea | ATGTGTTTTAGTCATTTATACCTTAGCATTACTTTTTTTCAAAAATTCATATCCTCTCATAGTAATTCATACAAATATACTCCCTGAAGCTTTAGGGTGTGGGGGTGGATTTTCTTTTCTTTCCTCTTTCTTTTCTTTCTCTTTTTCCCTTTTTCCCTCCATCTTTTCTCTTTTTTGGCCTATGTTTTCTCTGCAGAATGAAAAAAGAAAATCTCTCTTCTGATAAGGAGATTTCAGAAAGCAGACAGGCTAGTGTGAAATCACCCTAAAATTAAAACTTGTTTGGGTCTGTTTGTTTTATCAACTGGATGACACTGCTT... | ATGTGTTTTAGTCATTTATACCTTAGCATTACTTTTTTTCAAAAATTCATATCCTCTCATAGTAATTCATACAAATATACTCCCTGAAGCTTTAGGGTGTGGGGGTGGATTTTCTTTTCTTTCCTCTTTCTTTTCTTTCTCTTTTTCCCTTTTTCCCTCCATCTTTTCTCTTTTTTGGCCTATGTTTTCTCTGCAGAATGAAAAAAGAAAATCTCTCTTCTGATAAGGAGATTTCAGAAAGCAGACAGGCTAGTGTGAAATCACCCTAAAATTAAAACTTGTTTGGGTCTGTTTGTTTTATCAACTGGATGACACTGCTT... |
Task1_train_3635 | Gene SPTBN1 (spectrin beta, non-erythrocytic 1) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Developmental delay, impaired speech, and behavioral abnormalities | CATTTTGATCTTGCTCCCTTGCTTCATTAAAGACATTTTCTGACTCCAGTATAACGCATAAAGGATTTTATAATTCACAAAAAAAATTGTTAACCCTAAATACATATAAACTATGAGTTACTTGCCTCCTTGATAAGAGGCCATCTGTGAAATGCACCTTACATATTCTGCTCTAGACCTGCTCTTTCAGAATGGCCAAGCTTAGCCCCAGAATTACAGCTCCTGAGTCACTGTAGTAAAGTTGCCATCCATCACAATGATTACGTGATCAATAATGCATGTGGTCTTTTCTGTGGGACCTGTCATGATGTTATTGGTGC... | CATTTTGATCTTGCTCCCTTGCTTCATTAAAGACATTTTCTGACTCCAGTATAACGCATAAAGGATTTTATAATTCACAAAAAAAATTGTTAACCCTAAATACATATAAACTATGAGTTACTTGCCTCCTTGATAAGAGGCCATCTGTGAAATGCACCTTACATATTCTGCTCTAGACCTGCTCTTTCAGAATGGCCAAGCTTAGCCCCAGAATTACAGCTCCTGAGTCACTGTAGTAAAGTTGCCATCCATCACAATGATTACGTGATCAATAATGCATGTGGTCTTTTCTGTGGGACCTGTCATGATGTTATTGGTGC... |
Task1_train_3636 | A variant was discovered on Chromosome 2, affecting SPTBN1 (spectrin beta, non-erythrocytic 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Developmental delay, impaired speech, and behavioral abnormalities | AACCTGCCCAAGGGTACATGGTAGGTGATGGAGCCTGGATTCACATCCAGGCAGTCTGACTTTGGTGCCAGCCGACCAGGCTTTGTGTATAATGTTGCAAATATGCTGCCTCTGAGCGGCTTATGAAGGCACACCATGGAAGCACAGCGTTTAAGCCCACACTTGCTCTAATAGTTTGGAAATGGTGCACACAGTGCCCTCATCAATGAAGGTTGCACGTGGTGTGAAAAATGTTTACTTACAAAAAAACCGAACTCAGTATTTTTCTGGGGGTCTGGTGAGATTCCAGATGCACTGTATGAACCCCTGTGCTAGATTCT... | AACCTGCCCAAGGGTACATGGTAGGTGATGGAGCCTGGATTCACATCCAGGCAGTCTGACTTTGGTGCCAGCCGACCAGGCTTTGTGTATAATGTTGCAAATATGCTGCCTCTGAGCGGCTTATGAAGGCACACCATGGAAGCACAGCGTTTAAGCCCACACTTGCTCTAATAGTTTGGAAATGGTGCACACAGTGCCCTCATCAATGAAGGTTGCACGTGGTGTGAAAAATGTTTACTTACAAAAAAACCGAACTCAGTATTTTTCTGGGGGTCTGGTGAGATTCCAGATGCACTGTATGAACCCCTGTGCTAGATTCT... |
Task1_train_3637 | The gene SPTBN1 (spectrin beta, non-erythrocytic 1), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Developmental delay, impaired speech, and behavioral abnormalities | ATGCAGACCTGTTCTTCAGTGGTTCTTTTAGGCAGCTGACCCATCTATTTGTCTAATATTTCTTTGTAAATCTTAGATCCAGGATATCAGTGTGGAAACTGAAGACAACAAAGAGAAGAAATCTGCCAAGGATGCATTGCTGTTGTGGTGCCAGATGAAGACAGCTGGGTGAGTGTGAATGAAGAGGGTATTGGGGCTGCTTCTTCCAGGACTGAATTCCACTGCAGTCATCACTTAGAAGGTGTTGACAGGTATCTTTTCCACTGCTTCCATTGGGAAGTCTTGTTAACTCGCAAGCAGTTGATATGACTTTTCAATTA... | ATGCAGACCTGTTCTTCAGTGGTTCTTTTAGGCAGCTGACCCATCTATTTGTCTAATATTTCTTTGTAAATCTTAGATCCAGGATATCAGTGTGGAAACTGAAGACAACAAAGAGAAGAAATCTGCCAAGGATGCATTGCTGTTGTGGTGCCAGATGAAGACAGCTGGGTGAGTGTGAATGAAGAGGGTATTGGGGCTGCTTCTTCCAGGACTGAATTCCACTGCAGTCATCACTTAGAAGGTGTTGACAGGTATCTTTTCCACTGCTTCCATTGGGAAGTCTTGTTAACTCGCAAGCAGTTGATATGACTTTTCAATTA... |
Task1_train_3638 | Here’s a variant in SPTBN1 (spectrin beta, non-erythrocytic 1) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; SPTBN1-related disorder | TTTGTGCTTTGATAAAGAACCTTTTTTTCCCTATCGCAGTGACAACATTTTTTAATAACTTGCTCATTAGTTAATCTTTCAATCACCGCCCAGTATGAAAAGGGGGATTGATGTTCCCCAGATCACAAGACGAGGAGCTAAAAATGGCAGCTGATTTCACTTTTATCCTGTGGGTTTGATCTTGATTATTAGTTGTCCAGGGCTCCAAAGAACATCAGTTAAAATCTACTTGTAGACAAGTTAAATAAAAAGTTTTACCTTCTCACTTCTTTGAGTTTTGTTGACATTTTGTGTTGATTAAATTGTATACCTACACTGGC... | TTTGTGCTTTGATAAAGAACCTTTTTTTCCCTATCGCAGTGACAACATTTTTTAATAACTTGCTCATTAGTTAATCTTTCAATCACCGCCCAGTATGAAAAGGGGGATTGATGTTCCCCAGATCACAAGACGAGGAGCTAAAAATGGCAGCTGATTTCACTTTTATCCTGTGGGTTTGATCTTGATTATTAGTTGTCCAGGGCTCCAAAGAACATCAGTTAAAATCTACTTGTAGACAAGTTAAATAAAAAGTTTTACCTTCTCACTTCTTTGAGTTTTGTTGACATTTTGTGTTGATTAAATTGTATACCTACACTGGC... |
Task1_train_3639 | An alteration has been detected in SPTBN1 (spectrin beta, non-erythrocytic 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Developmental delay, impaired speech, and behavioral abnormalities | TTTCACTTTTGCTGTCCTCTTGTACCTTACATTTTATTGCGAGCAAATTGAAAACAGCCAGAGACACAGAAACAGGTGTTTTGAAAAATATGGTTCATTGTGTAGGAAAATTAGCTTTTCAGATAATTTCCTAGGAATTTGCTCATTGTAATTTGAGTTAAACCTGAGCCATAATCAAAGAATATTTCCAAAAATCCTTTAGGATATGGAAATCAAATCACACTGGAAACCAAAGCCTGTTGGTTCTTCTTTGTATCTTTTGCAGAAACTGCTTTTTTTCTTTTTTAACCTGTTATCACCTAAAGTGCTTCTGTGCAATC... | TTTCACTTTTGCTGTCCTCTTGTACCTTACATTTTATTGCGAGCAAATTGAAAACAGCCAGAGACACAGAAACAGGTGTTTTGAAAAATATGGTTCATTGTGTAGGAAAATTAGCTTTTCAGATAATTTCCTAGGAATTTGCTCATTGTAATTTGAGTTAAACCTGAGCCATAATCAAAGAATATTTCCAAAAATCCTTTAGGATATGGAAATCAAATCACACTGGAAACCAAAGCCTGTTGGTTCTTCTTTGTATCTTTTGCAGAAACTGCTTTTTTTCTTTTTTAACCTGTTATCACCTAAAGTGCTTCTGTGCAATC... |
Task1_train_3640 | This sequence variant lies in MTIF2 (mitochondrial translational initiation factor 2) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Inborn genetic diseases | AGAATTCCACATAATAAATTAACAGGAAATAACAGAATATAACCACTATGCAACTCCTAATGAATTTATGTGATGGATAGATCGAATTTCATTATTCTTTTCTTACTTTTGTATCTGTTTAAAATTTCTATGATAAAAAGTTGAAAAAAAAAGGGCATAGTAGAGGAAAGATTGTACCTGTGGTCTGTACTTATGGTCACAACTCCCAAGTTGAATCCTGCTATACTCTTCCTATTAGTTATAAGTCTGTGGGAAAACAATTTATCTTTGAGGCTTATCTGTAATACACGTATAATAACTCTGGGATTGTTGTGAAGACT... | AGAATTCCACATAATAAATTAACAGGAAATAACAGAATATAACCACTATGCAACTCCTAATGAATTTATGTGATGGATAGATCGAATTTCATTATTCTTTTCTTACTTTTGTATCTGTTTAAAATTTCTATGATAAAAAGTTGAAAAAAAAAGGGCATAGTAGAGGAAAGATTGTACCTGTGGTCTGTACTTATGGTCACAACTCCCAAGTTGAATCCTGCTATACTCTTCCTATTAGTTATAAGTCTGTGGGAAAACAATTTATCTTTGAGGCTTATCTGTAATACACGTATAATAACTCTGGGATTGTTGTGAAGACT... |
Task1_train_3641 | A variant affecting Chromosome 2, within the gene PNPT1 (polyribonucleotide nucleotidyltransferase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Combined oxidative phosphorylation defect type 13 | AGTGAGCTGTGATCATGCCACTATACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAACCCTCTCAAGTTGTAGATAACTACTGCTAACATTCCAATGAGTATCCCTTCAGATGTCTACTTAGTGTATGTGTACGGCATTTATAAAAATGGACCCTCTGTGCTTACTGTATATCTTAAGGACATCTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCGGGCTGGAGTACAGTAGCATGATATCCGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGG... | AGTGAGCTGTGATCATGCCACTATACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAACCCTCTCAAGTTGTAGATAACTACTGCTAACATTCCAATGAGTATCCCTTCAGATGTCTACTTAGTGTATGTGTACGGCATTTATAAAAATGGACCCTCTGTGCTTACTGTATATCTTAAGGACATCTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCGGGCTGGAGTACAGTAGCATGATATCCGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGG... |
Task1_train_3642 | This mutation occurs in PNPT1 (polyribonucleotide nucleotidyltransferase 1) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Combined oxidative phosphorylation defect type 13 | CCTTTTTTGTTTTCTTGAGACAGAGTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCCGCCTCCTGGGTTAAAGTGATTCTCTTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGGGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCAGGCCTCAAACTCCTGACCTCAAGTGATCCACCCACCTCAGGCTCCCAAAGTGCTGCAATTACAGGAATGAGCCACTGTGCCTGGCCCCTTTCCTTTCTAAACTACTTATA... | CCTTTTTTGTTTTCTTGAGACAGAGTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCCGCCTCCTGGGTTAAAGTGATTCTCTTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGGGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCAGGCCTCAAACTCCTGACCTCAAGTGATCCACCCACCTCAGGCTCCCAAAGTGCTGCAATTACAGGAATGAGCCACTGTGCCTGGCCCCTTTCCTTTCTAAACTACTTATA... |
Task1_train_3643 | This variant affects the gene PNPT1 (polyribonucleotide nucleotidyltransferase 1) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 70 | TACAAAAATTAGCCAGGCGTGGTAGCACGCACCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGACTGCACCACTGCACTTCAGCCTGGACAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAATCTCCTAGCATAATGCTTTCGTTTTTGGCGTTTCAGACCTGGGGATTATAATGAAACATTTGTAGTCCGCCTTCCTAAAATTGTGTGTACACGCCTGAGTGGCATTGTTCTCTTGGCTTGTATAAATCGACTGAAAGATTACA... | TACAAAAATTAGCCAGGCGTGGTAGCACGCACCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGACTGCACCACTGCACTTCAGCCTGGACAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAATCTCCTAGCATAATGCTTTCGTTTTTGGCGTTTCAGACCTGGGGATTATAATGAAACATTTGTAGTCCGCCTTCCTAAAATTGTGTGTACACGCCTGAGTGGCATTGTTCTCTTGGCTTGTATAAATCGACTGAAAGATTACA... |
Task1_train_3644 | Here’s a variant in PNPT1 (polyribonucleotide nucleotidyltransferase 1) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Combined oxidative phosphorylation defect type 13 | TAATACTAAAATTCAAATAAAGGAACAAATGTATCTAAATTTTAAGATAATTTTGAGGGGATTGAACAAACAGGGAAGATGACTTGCTTCTCAGATATTAAAATATACCCCTAAATCATAATAATTAAAATAGTTTGACAGTGGCCCAGAAAATTCACGTAACAATGAAAAAGGATATAGTTTAACATGCATTTATAAACTTTGACTATCATATGGTGACATCACAAGTCATTGAGAAAAATAAAGTATTAGTAAATAATGTATAATTGGCTCACTATGGAGGTCTTCCTTTCATACAACGTGTAGGAATAAATTCAAAG... | TAATACTAAAATTCAAATAAAGGAACAAATGTATCTAAATTTTAAGATAATTTTGAGGGGATTGAACAAACAGGGAAGATGACTTGCTTCTCAGATATTAAAATATACCCCTAAATCATAATAATTAAAATAGTTTGACAGTGGCCCAGAAAATTCACGTAACAATGAAAAAGGATATAGTTTAACATGCATTTATAAACTTTGACTATCATATGGTGACATCACAAGTCATTGAGAAAAATAAAGTATTAGTAAATAATGTATAATTGGCTCACTATGGAGGTCTTCCTTTCATACAACGTGTAGGAATAAATTCAAAG... |
Task1_train_3645 | A variant affecting Chromosome 2, within the gene PNPT1 (polyribonucleotide nucleotidyltransferase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Combined oxidative phosphorylation defect type 13 | TGAGATCTTCAACTAAAGTTAAAAAAAAAAAAAGTCTATTATTTCTTTTAATGCTTTTAAAATTAAAAAATACATAGTAATAGCGGTTCTGTGCAAAGGGGACTTTCTCTTTCCCCGAAACAGTTCGGGGAAGCTTTGGAGAAGAGGTGGCATTTGAACCTTGGGTTAGAAGAAGACCACCTGCTATGAGAGAGCATTCTAGGTCTAGGGAACAGCAGCTGTAAAGTTGAAAGTCCTTTGAATTCTTCTTTTCCTACAGATGTGATGCCTTTCCTCTTTGACCTTTAATCCCAAGAAGCAAGAGTCAGGCCATGCCTTAT... | TGAGATCTTCAACTAAAGTTAAAAAAAAAAAAAGTCTATTATTTCTTTTAATGCTTTTAAAATTAAAAAATACATAGTAATAGCGGTTCTGTGCAAAGGGGACTTTCTCTTTCCCCGAAACAGTTCGGGGAAGCTTTGGAGAAGAGGTGGCATTTGAACCTTGGGTTAGAAGAAGACCACCTGCTATGAGAGAGCATTCTAGGTCTAGGGAACAGCAGCTGTAAAGTTGAAAGTCCTTTGAATTCTTCTTTTCCTACAGATGTGATGCCTTTCCTCTTTGACCTTTAATCCCAAGAAGCAAGAGTCAGGCCATGCCTTAT... |
Task1_train_3646 | This alteration occurs within gene PNPT1 (polyribonucleotide nucleotidyltransferase 1) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Combined oxidative phosphorylation defect type 13 | CAGTGAGCTGAGATCGCGCCATTGGTCTCCAGCCTGGGCAACAAGAGTGAAACTCCATTTCAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCATGTTGGGAGGCTGAGGCGGGCAGATCACGGGGTCAGGAGATCAAGACCATCCTGCCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCATGTTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGTGGCTGAGGCAGGATAATGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCA... | CAGTGAGCTGAGATCGCGCCATTGGTCTCCAGCCTGGGCAACAAGAGTGAAACTCCATTTCAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCATGTTGGGAGGCTGAGGCGGGCAGATCACGGGGTCAGGAGATCAAGACCATCCTGCCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCATGTTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGTGGCTGAGGCAGGATAATGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCA... |
Task1_train_3647 | This genomic variant is located on Chromosome 2, within the PNPT1 (polyribonucleotide nucleotidyltransferase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Combined oxidative phosphorylation defect type 13 | GTCAAACATTGCTTTTTTTTGGTATCAACTCTGTTAAATATAATTGTACACCCCTTTTCATAATAGAAGGGAGCTATAAAATTCTCATGAGCTCATTACTAAATATACACAGTTGTCTCTTGGTATCCCTGGGGGATTGGTTCTAGGACCTCTTGCAGATATCAAAATCCATGGATGCTCAAATCCTTGATGTAAAACACCATAGTATTTGTTTATAACTTACGTATATCCTCTCATATACTTTAAATCATCTCTAGATTACATATAATCCTTAATACAATGTAAATTCTACATAAATAGTTTTTATACCGTATTGCGTA... | GTCAAACATTGCTTTTTTTTGGTATCAACTCTGTTAAATATAATTGTACACCCCTTTTCATAATAGAAGGGAGCTATAAAATTCTCATGAGCTCATTACTAAATATACACAGTTGTCTCTTGGTATCCCTGGGGGATTGGTTCTAGGACCTCTTGCAGATATCAAAATCCATGGATGCTCAAATCCTTGATGTAAAACACCATAGTATTTGTTTATAACTTACGTATATCCTCTCATATACTTTAAATCATCTCTAGATTACATATAATCCTTAATACAATGTAAATTCTACATAAATAGTTTTTATACCGTATTGCGTA... |
Task1_train_3648 | Gene EFEMP1 (EGF containing fibulin extracellular matrix protein 1), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Glaucoma 1, open angle, H | ATTCAATATCAGAATATCAAGCAGATGCTGAAGCATTCATCATCAATACTGGAATTCTGACTCATGACAGTAACACGAAACAGATGCTAATACGATGCACCCTCTGAAAAGTGACACCATCACAACATGGGTTAGGTCTTGATGTGGGGTACTTAAAGCTTACAAACAAAATATGAAATAAATAAGAGTCAGAGCATGACAAGTTTCCTTCATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCGGCTCACTGCAACCTTCACCTCCCAGGTTCAAGCAAT... | ATTCAATATCAGAATATCAAGCAGATGCTGAAGCATTCATCATCAATACTGGAATTCTGACTCATGACAGTAACACGAAACAGATGCTAATACGATGCACCCTCTGAAAAGTGACACCATCACAACATGGGTTAGGTCTTGATGTGGGGTACTTAAAGCTTACAAACAAAATATGAAATAAATAAGAGTCAGAGCATGACAAGTTTCCTTCATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCGGCTCACTGCAACCTTCACCTCCCAGGTTCAAGCAAT... |
Task1_train_3649 | With a mutation on Chromosome 2 in gene EFEMP1 (EGF containing fibulin extracellular matrix protein 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Glaucoma of childhood | ATTCAATATCAGAATATCAAGCAGATGCTGAAGCATTCATCATCAATACTGGAATTCTGACTCATGACAGTAACACGAAACAGATGCTAATACGATGCACCCTCTGAAAAGTGACACCATCACAACATGGGTTAGGTCTTGATGTGGGGTACTTAAAGCTTACAAACAAAATATGAAATAAATAAGAGTCAGAGCATGACAAGTTTCCTTCATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCGGCTCACTGCAACCTTCACCTCCCAGGTTCAAGCAAT... | ATTCAATATCAGAATATCAAGCAGATGCTGAAGCATTCATCATCAATACTGGAATTCTGACTCATGACAGTAACACGAAACAGATGCTAATACGATGCACCCTCTGAAAAGTGACACCATCACAACATGGGTTAGGTCTTGATGTGGGGTACTTAAAGCTTACAAACAAAATATGAAATAAATAAGAGTCAGAGCATGACAAGTTTCCTTCATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCGGCTCACTGCAACCTTCACCTCCCAGGTTCAAGCAAT... |
Task1_train_3650 | A variant affecting Chromosome 2, within the gene BCL11A (BCL11 transcription factor A), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | CATTCATTTCTATGTTAAGTGTATTCTGTTTCCATTCACAGCGCTTGCAATGTTGCGTCCAAGTAAGTAAGCTCAATAGTCAAGTAAATGGCTGGCAAAGTTTTTTTTTTTTTAGTTTTTAAAAAATGCTCCTCAATGAGATTGTGTTCAATTTTTTTTCAGCATTCTTGCAACTTTTCCCTTAAGTATAGACCTGTAAACTGGGAAAATTGTACAGTGCACTTAATTGTCCTATCTGAGCAGGTTTATTTTATACTCAACCTCTGTATCTCTGATTAGAGAAAAGATACAGATATCACAGGCAGAGTCAAGTGCTATTT... | CATTCATTTCTATGTTAAGTGTATTCTGTTTCCATTCACAGCGCTTGCAATGTTGCGTCCAAGTAAGTAAGCTCAATAGTCAAGTAAATGGCTGGCAAAGTTTTTTTTTTTTTAGTTTTTAAAAAATGCTCCTCAATGAGATTGTGTTCAATTTTTTTTCAGCATTCTTGCAACTTTTCCCTTAAGTATAGACCTGTAAACTGGGAAAATTGTACAGTGCACTTAATTGTCCTATCTGAGCAGGTTTATTTTATACTCAACCTCTGTATCTCTGATTAGAGAAAAGATACAGATATCACAGGCAGAGTCAAGTGCTATTT... |
Task1_train_3651 | Located on Chromosome 2, this mutation impacts BCL11A (BCL11 transcription factor A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Dias-Logan syndrome | GGTCTTAAAGTTTATCATTTGATTGTCCACTTGACAACCAAGTAGATCTGGATCTATTTCTTTTGGTGCCAGTATTTTTAAAAAGACATTATTAAAGCAAATATCTTCATAAAATGAACTCCTTACTAGTGTATTTAATTGCGTTCCAGGGCTTTTGCACATTACACATTCAATTTAATCATTGTTTAAAAAAAATAAAACTTTGGGCAAAACAGCCCATTTCTTTTAAGCTCTCACCAGGAGCAAAGTAGCTTTTATACTGGTATAATCAGTTTTGTTTATAAAATTAAACTAAAGGAAAAATGATGATTAACTAGGAC... | GGTCTTAAAGTTTATCATTTGATTGTCCACTTGACAACCAAGTAGATCTGGATCTATTTCTTTTGGTGCCAGTATTTTTAAAAAGACATTATTAAAGCAAATATCTTCATAAAATGAACTCCTTACTAGTGTATTTAATTGCGTTCCAGGGCTTTTGCACATTACACATTCAATTTAATCATTGTTTAAAAAAAATAAAACTTTGGGCAAAACAGCCCATTTCTTTTAAGCTCTCACCAGGAGCAAAGTAGCTTTTATACTGGTATAATCAGTTTTGTTTATAAAATTAAACTAAAGGAAAAATGATGATTAACTAGGAC... |
Task1_train_3652 | A genomic change on Chromosome 2 affects BCL11A (BCL11 transcription factor A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Dias-Logan syndrome | TAAGACTGAATAACCTATTTGGGACCTCAGTAAGAAGTGTGGTTTTAATTCTTGCTTGACAGACACTGTGTTTTGTCTTTTAAACGAGCAGCTCGATATGTAAATACGATGTTACATCACGCAAGTGTTACTCCATATTTGGTGATTTAGCAAGGCTTTGGATCTCCGAAGACGACAAATCCCCTTCCGCCTGCTCTTGCTTCATTAATCATGCCTTACACTTCTGTTCATTTTCCTTCCAGTCACAAGACAACACATGGAAATGGTCATTCCCACATCCTGCTGGGGGGTAGGGGAGATAAAATCTTCACCTACATGTC... | TAAGACTGAATAACCTATTTGGGACCTCAGTAAGAAGTGTGGTTTTAATTCTTGCTTGACAGACACTGTGTTTTGTCTTTTAAACGAGCAGCTCGATATGTAAATACGATGTTACATCACGCAAGTGTTACTCCATATTTGGTGATTTAGCAAGGCTTTGGATCTCCGAAGACGACAAATCCCCTTCCGCCTGCTCTTGCTTCATTAATCATGCCTTACACTTCTGTTCATTTTCCTTCCAGTCACAAGACAACACATGGAAATGGTCATTCCCACATCCTGCTGGGGGGTAGGGGAGATAAAATCTTCACCTACATGTC... |
Task1_train_3653 | This variant affects gene BCL11A (BCL11 transcription factor A) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Dias-Logan syndrome | TTGACAGACACTGTGTTTTGTCTTTTAAACGAGCAGCTCGATATGTAAATACGATGTTACATCACGCAAGTGTTACTCCATATTTGGTGATTTAGCAAGGCTTTGGATCTCCGAAGACGACAAATCCCCTTCCGCCTGCTCTTGCTTCATTAATCATGCCTTACACTTCTGTTCATTTTCCTTCCAGTCACAAGACAACACATGGAAATGGTCATTCCCACATCCTGCTGGGGGGTAGGGGAGATAAAATCTTCACCTACATGTCACATAAGGTAAATGTGGTGGATTCAAGAAATACACTCCACAAATGCAGCTTCCCT... | TTGACAGACACTGTGTTTTGTCTTTTAAACGAGCAGCTCGATATGTAAATACGATGTTACATCACGCAAGTGTTACTCCATATTTGGTGATTTAGCAAGGCTTTGGATCTCCGAAGACGACAAATCCCCTTCCGCCTGCTCTTGCTTCATTAATCATGCCTTACACTTCTGTTCATTTTCCTTCCAGTCACAAGACAACACATGGAAATGGTCATTCCCACATCCTGCTGGGGGGTAGGGGAGATAAAATCTTCACCTACATGTCACATAAGGTAAATGTGGTGGATTCAAGAAATACACTCCACAAATGCAGCTTCCCT... |
Task1_train_3654 | A genetic alteration is present in BCL11A (BCL11 transcription factor A) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Dias-Logan syndrome | CAGACACTGTGTTTTGTCTTTTAAACGAGCAGCTCGATATGTAAATACGATGTTACATCACGCAAGTGTTACTCCATATTTGGTGATTTAGCAAGGCTTTGGATCTCCGAAGACGACAAATCCCCTTCCGCCTGCTCTTGCTTCATTAATCATGCCTTACACTTCTGTTCATTTTCCTTCCAGTCACAAGACAACACATGGAAATGGTCATTCCCACATCCTGCTGGGGGGTAGGGGAGATAAAATCTTCACCTACATGTCACATAAGGTAAATGTGGTGGATTCAAGAAATACACTCCACAAATGCAGCTTCCCTAGCA... | CAGACACTGTGTTTTGTCTTTTAAACGAGCAGCTCGATATGTAAATACGATGTTACATCACGCAAGTGTTACTCCATATTTGGTGATTTAGCAAGGCTTTGGATCTCCGAAGACGACAAATCCCCTTCCGCCTGCTCTTGCTTCATTAATCATGCCTTACACTTCTGTTCATTTTCCTTCCAGTCACAAGACAACACATGGAAATGGTCATTCCCACATCCTGCTGGGGGGTAGGGGAGATAAAATCTTCACCTACATGTCACATAAGGTAAATGTGGTGGATTCAAGAAATACACTCCACAAATGCAGCTTCCCTAGCA... |
Task1_train_3655 | Assess the clinical impact of this variant on gene BCL11A (BCL11 transcription factor A), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Dias-Logan syndrome | TTCCTAAGTGCCCACCGCCCGCCTTTCCAGGCGCAGTCAGCGGGAGACAGCCACCACCACCAGCTCTTATACAGACTCACAAGAACCTCAGACCAAGCCAGGCCTGGGGAAGAGGGCAAGACCCAAAGGGTGAAGTGCTCGGGGTCCCAGGATCCAGCGCCCTTAAAATGCACACTCAAACACACTTCTCCCCTGCCCTTCCCCGGCAACCCCGCCACCTGGCCTAGTCGTGCTCGGGGCGCAGGGGGACTGGTGACCAGACCGGGCGGGGTGGGGGGTGGGCAGGGAAAGCACGTGGTGACCTCCTCGCGGTCCCGAGC... | TTCCTAAGTGCCCACCGCCCGCCTTTCCAGGCGCAGTCAGCGGGAGACAGCCACCACCACCAGCTCTTATACAGACTCACAAGAACCTCAGACCAAGCCAGGCCTGGGGAAGAGGGCAAGACCCAAAGGGTGAAGTGCTCGGGGTCCCAGGATCCAGCGCCCTTAAAATGCACACTCAAACACACTTCTCCCCTGCCCTTCCCCGGCAACCCCGCCACCTGGCCTAGTCGTGCTCGGGGCGCAGGGGGACTGGTGACCAGACCGGGCGGGGTGGGGGGTGGGCAGGGAAAGCACGTGGTGACCTCCTCGCGGTCCCGAGC... |
Task1_train_3656 | The following genetic variant occurs in BCL11A (BCL11 transcription factor A) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | TCCTAAGTGCCCACCGCCCGCCTTTCCAGGCGCAGTCAGCGGGAGACAGCCACCACCACCAGCTCTTATACAGACTCACAAGAACCTCAGACCAAGCCAGGCCTGGGGAAGAGGGCAAGACCCAAAGGGTGAAGTGCTCGGGGTCCCAGGATCCAGCGCCCTTAAAATGCACACTCAAACACACTTCTCCCCTGCCCTTCCCCGGCAACCCCGCCACCTGGCCTAGTCGTGCTCGGGGCGCAGGGGGACTGGTGACCAGACCGGGCGGGGTGGGGGGTGGGCAGGGAAAGCACGTGGTGACCTCCTCGCGGTCCCGAGCT... | TCCTAAGTGCCCACCGCCCGCCTTTCCAGGCGCAGTCAGCGGGAGACAGCCACCACCACCAGCTCTTATACAGACTCACAAGAACCTCAGACCAAGCCAGGCCTGGGGAAGAGGGCAAGACCCAAAGGGTGAAGTGCTCGGGGTCCCAGGATCCAGCGCCCTTAAAATGCACACTCAAACACACTTCTCCCCTGCCCTTCCCCGGCAACCCCGCCACCTGGCCTAGTCGTGCTCGGGGCGCAGGGGGACTGGTGACCAGACCGGGCGGGGTGGGGGGTGGGCAGGGAAAGCACGTGGTGACCTCCTCGCGGTCCCGAGCT... |
Task1_train_3657 | The gene PEX13 (peroxisomal biogenesis factor 13), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Peroxisome biogenesis disorder 11B | ATTTTTTTAAATATGTGTATTTATGGGGATTCAAGTTTATTGCAAAAAGTGATGTTTTGTTGATAAAGGTACTAATAACAATAACATGTTATTTATTGAGTACTTACTATGTACAAGGTACTGTATTTTACATATTTCATTTAAGCCTTACAATAATACGGTGAAGTGGTACTATTATTATCCTGTCATTGTTTTACCCTTGAAGAAACTGAGACTCAGAATAAGTAAATTGTCCAGTATCACAAAGCAAAGGTGCAATAGAACTGGACTATGAATCTAGGTTTGTCTAACTTGAGACCTTGTGCTTTTAACAACTCTGG... | ATTTTTTTAAATATGTGTATTTATGGGGATTCAAGTTTATTGCAAAAAGTGATGTTTTGTTGATAAAGGTACTAATAACAATAACATGTTATTTATTGAGTACTTACTATGTACAAGGTACTGTATTTTACATATTTCATTTAAGCCTTACAATAATACGGTGAAGTGGTACTATTATTATCCTGTCATTGTTTTACCCTTGAAGAAACTGAGACTCAGAATAAGTAAATTGTCCAGTATCACAAAGCAAAGGTGCAATAGAACTGGACTATGAATCTAGGTTTGTCTAACTTGAGACCTTGTGCTTTTAACAACTCTGG... |
Task1_train_3658 | A genetic alteration is present in MDH1, WDPCP (malate dehydrogenase 1| WD repeat containing planar cell polarity effector) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Developmental and epileptic encephalopathy, 88 | CTCCTGAAAGGTGGGTTGGGGAGTAGAGAAGGGATTTTATGGTATTTGATTTCTTACAAAATACAGGTTTTAGGTTTTTGTTAAAGGCTCTCAATTAGAAATTATTTCATAAGAGGATTTTTTTATTTTGAACTACCACTGTTTATTAACTACTTATGTATACCAAGGATAAATAAGGGTAAGAAATGAGCAACAATCAATGTCAGGTAAAGGACTATCCTTTTTTCCCCAATGTGTGTGTGTATATAATTTATTATACCAGTTAAGTGTAATATTGCACAAGGGTTATACACCTGAAATTGTCTACACACACACACATT... | CTCCTGAAAGGTGGGTTGGGGAGTAGAGAAGGGATTTTATGGTATTTGATTTCTTACAAAATACAGGTTTTAGGTTTTTGTTAAAGGCTCTCAATTAGAAATTATTTCATAAGAGGATTTTTTTATTTTGAACTACCACTGTTTATTAACTACTTATGTATACCAAGGATAAATAAGGGTAAGAAATGAGCAACAATCAATGTCAGGTAAAGGACTATCCTTTTTTCCCCAATGTGTGTGTGTATATAATTTATTATACCAGTTAAGTGTAATATTGCACAAGGGTTATACACCTGAAATTGTCTACACACACACACATT... |
Task1_train_3659 | A mutation found in SLC1A4 (solute carrier family 1 member 4) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | AGCCAGATATAAATATGTGCAGCTCTTCATCTGACACTACCTCCCCCGCCCACCCCCCCCCCCCCCACACACAATCCTTACAAGTTCTAGCCAATAGCTGGCTGGCTCCAAGCAATAAAATACTCACTGTCTCAAAATTTGGACAGCTCCTTAAAGTTCCTTATGAAGGCATTTTGATTTGCACAAATATGTCATGACATGTTTTAAGATGACTCCTTTATAGCAAGAAATCTATAGTAAATTGCCTTCCTCCTTAATTGAGGTTAGCCACAATTAAGTCTTCCCTTGCCTGGCACAGTGGGTGGTGCCAGCTACCAAGG... | AGCCAGATATAAATATGTGCAGCTCTTCATCTGACACTACCTCCCCCGCCCACCCCCCCCCCCCCCACACACAATCCTTACAAGTTCTAGCCAATAGCTGGCTGGCTCCAAGCAATAAAATACTCACTGTCTCAAAATTTGGACAGCTCCTTAAAGTTCCTTATGAAGGCATTTTGATTTGCACAAATATGTCATGACATGTTTTAAGATGACTCCTTTATAGCAAGAAATCTATAGTAAATTGCCTTCCTCCTTAATTGAGGTTAGCCACAATTAAGTCTTCCCTTGCCTGGCACAGTGGGTGGTGCCAGCTACCAAGG... |
Task1_train_3660 | The gene SLC1A4 (solute carrier family 1 member 4) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | ATTGATTTTTGCATCTTATTAACTTTGTTGGCTGATACATTGCTGCATAACAAACTACTACACATTTAACAGCTTAAACAGCTTAAAATCTCACATATTTACTATCCTACAGTCTCTCTGGGGTCAGGAATCTTGGGACAGTTTAGTTAGGTCCTCTGCTTCAGAGTCTCTTACAAGGCTGCAATCGGAGGTGTTGGTCAGGGCTAGGTTCTTACCCACAGGTCCACCTGGGGAGAGATTCACCTCTGAGGTCATGTTGTTGTTGGCAGAATTCAGTTCCTTGAAGTTTGGACTGGGAGCCTCAGTTGGCTCTTGGCTGG... | ATTGATTTTTGCATCTTATTAACTTTGTTGGCTGATACATTGCTGCATAACAAACTACTACACATTTAACAGCTTAAACAGCTTAAAATCTCACATATTTACTATCCTACAGTCTCTCTGGGGTCAGGAATCTTGGGACAGTTTAGTTAGGTCCTCTGCTTCAGAGTCTCTTACAAGGCTGCAATCGGAGGTGTTGGTCAGGGCTAGGTTCTTACCCACAGGTCCACCTGGGGAGAGATTCACCTCTGAGGTCATGTTGTTGTTGGCAGAATTCAGTTCCTTGAAGTTTGGACTGGGAGCCTCAGTTGGCTCTTGGCTGG... |
Task1_train_3661 | An alteration has been detected in SLC1A4 (solute carrier family 1 member 4) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | TGGAATTAAAATAACATTTTAAGAGGAAGACACTCCAGACAGAGTGAGCCTAGAATGATCTCCAAGATATTCCATTAATATAATAATAGTTCTTGTTGGTTTTCATTTGCCTGACACAGTCTAAGTACTTTACATATATTAACATATTTAATCTTCATAGCAACTTTACATATTAGCTATTGTGACTATCTCCATTTTATAAATGGGGAACTGAGTCACAAAGACGTTAAGTAACTTACCTAGACTCCCACAACTAGGAAGTAGTGAAAGTCAGGCTCCAAAGCCAATGCTCCTTAATTACTATTGCCGCTGCTCCTCTA... | TGGAATTAAAATAACATTTTAAGAGGAAGACACTCCAGACAGAGTGAGCCTAGAATGATCTCCAAGATATTCCATTAATATAATAATAGTTCTTGTTGGTTTTCATTTGCCTGACACAGTCTAAGTACTTTACATATATTAACATATTTAATCTTCATAGCAACTTTACATATTAGCTATTGTGACTATCTCCATTTTATAAATGGGGAACTGAGTCACAAAGACGTTAAGTAACTTACCTAGACTCCCACAACTAGGAAGTAGTGAAAGTCAGGCTCCAAAGCCAATGCTCCTTAATTACTATTGCCGCTGCTCCTCTA... |
Task1_train_3662 | A variant affecting Chromosome 2, within the gene SLC1A4 (solute carrier family 1 member 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Inborn genetic diseases | TGGAATTAAAATAACATTTTAAGAGGAAGACACTCCAGACAGAGTGAGCCTAGAATGATCTCCAAGATATTCCATTAATATAATAATAGTTCTTGTTGGTTTTCATTTGCCTGACACAGTCTAAGTACTTTACATATATTAACATATTTAATCTTCATAGCAACTTTACATATTAGCTATTGTGACTATCTCCATTTTATAAATGGGGAACTGAGTCACAAAGACGTTAAGTAACTTACCTAGACTCCCACAACTAGGAAGTAGTGAAAGTCAGGCTCCAAAGCCAATGCTCCTTAATTACTATTGCCGCTGCTCCTCTA... | TGGAATTAAAATAACATTTTAAGAGGAAGACACTCCAGACAGAGTGAGCCTAGAATGATCTCCAAGATATTCCATTAATATAATAATAGTTCTTGTTGGTTTTCATTTGCCTGACACAGTCTAAGTACTTTACATATATTAACATATTTAATCTTCATAGCAACTTTACATATTAGCTATTGTGACTATCTCCATTTTATAAATGGGGAACTGAGTCACAAAGACGTTAAGTAACTTACCTAGACTCCCACAACTAGGAAGTAGTGAAAGTCAGGCTCCAAAGCCAATGCTCCTTAATTACTATTGCCGCTGCTCCTCTA... |
Task1_train_3663 | A variant affecting Chromosome 2, within the gene SLC1A4 (solute carrier family 1 member 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | CCTTTCCTCCTGGGAATCCCTGTGACTGGTAGCATCCTTCTGTTAAGGACATACTGTATCCAAGGGGAAAGACGTCTGGGTTCTGGTCCTGACTCTGTTACCCTTGGTGAGTGGTCAGCCTCATTTTACCCAGTCTCACAGGCTGTAAAATGGGGATGGTATAACCCTGACTGTTTCGGTTCCTCGGGGTTATCCTAGGGAGAGATGAAGACGGCCTGGCTGAAAGTCCCTGCATTCTGCCTCAGGAAGGACCTGCATCTCTCACCCCAGCTTTATCCCCCACTGATGAGTACCCTGTGCTTGTGCCCTAGGTACGTACC... | CCTTTCCTCCTGGGAATCCCTGTGACTGGTAGCATCCTTCTGTTAAGGACATACTGTATCCAAGGGGAAAGACGTCTGGGTTCTGGTCCTGACTCTGTTACCCTTGGTGAGTGGTCAGCCTCATTTTACCCAGTCTCACAGGCTGTAAAATGGGGATGGTATAACCCTGACTGTTTCGGTTCCTCGGGGTTATCCTAGGGAGAGATGAAGACGGCCTGGCTGAAAGTCCCTGCATTCTGCCTCAGGAAGGACCTGCATCTCTCACCCCAGCTTTATCCCCCACTGATGAGTACCCTGTGCTTGTGCCCTAGGTACGTACC... |
Task1_train_3664 | A mutation found in SPRED2 (sprouty related EVH1 domain containing 2) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Noonan syndrome | TTCCTCTTGCAATACCAAGGCATCAGTGAGTTTGCTTTGTTTTTCCAAGTCAAAATTACAGCTCTTGTTAGAAAACCCTCCTTATTCCATCATGGAACCAATTGGATTTTAGAGTTCAATGTAATTACTTGTTCACCTTTTTCTTCATTCTGGTATGCGAATCAGGTACAACTGCCCTACTTCCCCCCACCACCCTGAATAGCAGACAATAATGCATGGATCAACTTAATTGGCCAAAAGAAAGACATATTTAAAATTGCATCAGTGACAGATATACCAAAAGGGAAATTTATTCTCTATCTTTTCCTTTTCTTGGTTAG... | TTCCTCTTGCAATACCAAGGCATCAGTGAGTTTGCTTTGTTTTTCCAAGTCAAAATTACAGCTCTTGTTAGAAAACCCTCCTTATTCCATCATGGAACCAATTGGATTTTAGAGTTCAATGTAATTACTTGTTCACCTTTTTCTTCATTCTGGTATGCGAATCAGGTACAACTGCCCTACTTCCCCCCACCACCCTGAATAGCAGACAATAATGCATGGATCAACTTAATTGGCCAAAAGAAAGACATATTTAAAATTGCATCAGTGACAGATATACCAAAAGGGAAATTTATTCTCTATCTTTTCCTTTTCTTGGTTAG... |
Task1_train_3665 | This variant lies on Chromosome 2 and affects the gene GFPT1 (glutamine--fructose-6-phosphate transaminase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Congenital myasthenic syndrome 12 | ACAAAACCAAACAAAATAAAAAGTGTCACTAGCTTCCCAAATAATTTATAATCAAATCCGAACTACTTACTTTGGCCTTCAAGTCCCATAAGACCTGTCTCCTGCTTACTCTGACCTAGCACATCCCTTCTCACTCAGGCCACACCAGCCAGACTGGCCTTCTTGCTGTTACTGCACTAGACCAAGCCTGTTTGTGTACCTCTGCCTACAGTGTTTTCCACAGACCTTGGCATTAATTACAAATGTTTGAGAAGAAAGGAAACAGCAGTAAAAGGCTGGATCAGGGTCATGCAAAGGCAAAGACTCAATATAAAAGCAAA... | ACAAAACCAAACAAAATAAAAAGTGTCACTAGCTTCCCAAATAATTTATAATCAAATCCGAACTACTTACTTTGGCCTTCAAGTCCCATAAGACCTGTCTCCTGCTTACTCTGACCTAGCACATCCCTTCTCACTCAGGCCACACCAGCCAGACTGGCCTTCTTGCTGTTACTGCACTAGACCAAGCCTGTTTGTGTACCTCTGCCTACAGTGTTTTCCACAGACCTTGGCATTAATTACAAATGTTTGAGAAGAAAGGAAACAGCAGTAAAAGGCTGGATCAGGGTCATGCAAAGGCAAAGACTCAATATAAAAGCAAA... |
Task1_train_3666 | This sequence variant lies in GFPT1 (glutamine--fructose-6-phosphate transaminase 1) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Congenital myasthenic syndrome 12 | TCACATGAATATATCTAATAAAGGGCAGAGCCTTTATAATAAAGGGTCATGTATAGTCTACGAAGAATAAACATGTAACTCAAATATGTTGAAATACATTAGTCATTGTTAGAGTTATATGTACCTTGTGCCAACTGCTTGCCCGGGAAAATGAACACTTTTAAACACAAGTGCAAAAGCACCTTCCTAGGGAGGGAAAAAAATCCATTAGCACTATTTAATCAATTATCAAGTCAGAAATGCCTAGAACATACTGGCTTCAGCGCAGAAATTTTTTGTTCACACAAATGCTCTTTTGTACCAGTTTATAAACAAGTCTA... | TCACATGAATATATCTAATAAAGGGCAGAGCCTTTATAATAAAGGGTCATGTATAGTCTACGAAGAATAAACATGTAACTCAAATATGTTGAAATACATTAGTCATTGTTAGAGTTATATGTACCTTGTGCCAACTGCTTGCCCGGGAAAATGAACACTTTTAAACACAAGTGCAAAAGCACCTTCCTAGGGAGGGAAAAAAATCCATTAGCACTATTTAATCAATTATCAAGTCAGAAATGCCTAGAACATACTGGCTTCAGCGCAGAAATTTTTTGTTCACACAAATGCTCTTTTGTACCAGTTTATAAACAAGTCTA... |
Task1_train_3667 | With a mutation on Chromosome 2 in gene GFPT1 (glutamine--fructose-6-phosphate transaminase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Congenital myasthenic syndrome | CTTAACTTAAAGCCAAATTCTCAAAACATAATCTAGATGTAAGTTTTCGGGAATCTTTCATAAAGGCCTTGTCAGTGTCAAAAGTCTAAATTATTGCTAGCATTATGATCAAATTCAACAGTAAGTATTGAAGCACAAGAAGCCTAAATAGGCAGCTTCTGAATTAAACTAAAAATCAGCAAGGGCTGGGTGCAGTGGTTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAAGATTACTTGAGTCCAGAAATTTGTAACCAGCCTGAGCAACAAAGCAAGACCCCTATCTCTACAAAAATAAAATAAATTA... | CTTAACTTAAAGCCAAATTCTCAAAACATAATCTAGATGTAAGTTTTCGGGAATCTTTCATAAAGGCCTTGTCAGTGTCAAAAGTCTAAATTATTGCTAGCATTATGATCAAATTCAACAGTAAGTATTGAAGCACAAGAAGCCTAAATAGGCAGCTTCTGAATTAAACTAAAAATCAGCAAGGGCTGGGTGCAGTGGTTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAAGATTACTTGAGTCCAGAAATTTGTAACCAGCCTGAGCAACAAAGCAAGACCCCTATCTCTACAAAAATAAAATAAATTA... |
Task1_train_3668 | Given this variant in gene GFPT1 (glutamine--fructose-6-phosphate transaminase 1) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Congenital myasthenic syndrome 12 | CTTAACTTAAAGCCAAATTCTCAAAACATAATCTAGATGTAAGTTTTCGGGAATCTTTCATAAAGGCCTTGTCAGTGTCAAAAGTCTAAATTATTGCTAGCATTATGATCAAATTCAACAGTAAGTATTGAAGCACAAGAAGCCTAAATAGGCAGCTTCTGAATTAAACTAAAAATCAGCAAGGGCTGGGTGCAGTGGTTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAAGATTACTTGAGTCCAGAAATTTGTAACCAGCCTGAGCAACAAAGCAAGACCCCTATCTCTACAAAAATAAAATAAATTA... | CTTAACTTAAAGCCAAATTCTCAAAACATAATCTAGATGTAAGTTTTCGGGAATCTTTCATAAAGGCCTTGTCAGTGTCAAAAGTCTAAATTATTGCTAGCATTATGATCAAATTCAACAGTAAGTATTGAAGCACAAGAAGCCTAAATAGGCAGCTTCTGAATTAAACTAAAAATCAGCAAGGGCTGGGTGCAGTGGTTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAAGATTACTTGAGTCCAGAAATTTGTAACCAGCCTGAGCAACAAAGCAAGACCCCTATCTCTACAAAAATAAAATAAATTA... |
Task1_train_3669 | This variant lies on Chromosome 2 and affects the gene GFPT1 (glutamine--fructose-6-phosphate transaminase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Congenital myasthenic syndrome 12 | TCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGGTGAGGCAGGAGAATTGCTTGAACTCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTTGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAGAAGATTGATGAGTCAGAGCTCACCCATGAAGACACCAAATAAGAGAAGTGGATCTAGAAAAGAATATTGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAGGGCGGGTGGATC... | TCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGGTGAGGCAGGAGAATTGCTTGAACTCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTTGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAGAAGATTGATGAGTCAGAGCTCACCCATGAAGACACCAAATAAGAGAAGTGGATCTAGAAAAGAATATTGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAGGGCGGGTGGATC... |
Task1_train_3670 | This variant impacts the gene GFPT1 (glutamine--fructose-6-phosphate transaminase 1) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; not specified | TCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGGTGAGGCAGGAGAATTGCTTGAACTCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTTGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAGAAGATTGATGAGTCAGAGCTCACCCATGAAGACACCAAATAAGAGAAGTGGATCTAGAAAAGAATATTGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAGGGCGGGTGGATC... | TCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGGTGAGGCAGGAGAATTGCTTGAACTCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTTGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAGAAGATTGATGAGTCAGAGCTCACCCATGAAGACACCAAATAAGAGAAGTGGATCTAGAAAAGAATATTGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAGGGCGGGTGGATC... |
Task1_train_3671 | Consider a variant on Chromosome 2 in gene GFPT1 (glutamine--fructose-6-phosphate transaminase 1). Determine its clinical classification and disease relevance. | Pathogenic; Congenital myasthenic syndrome 12 | TCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGGTGAGGCAGGAGAATTGCTTGAACTCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTTGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAGAAGATTGATGAGTCAGAGCTCACCCATGAAGACACCAAATAAGAGAAGTGGATCTAGAAAAGAATATTGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAGGGCGGGTGGATCTC... | TCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGGTGAGGCAGGAGAATTGCTTGAACTCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTTGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAGAAGATTGATGAGTCAGAGCTCACCCATGAAGACACCAAATAAGAGAAGTGGATCTAGAAAAGAATATTGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAGGGCGGGTGGATCTC... |
Task1_train_3672 | The gene NFU1 (NFU1 iron-sulfur cluster scaffold) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Multiple mitochondrial dysfunctions syndrome 1 | CCATCTTGGATGCTAATCTGCCACATTGACTACCCTCAGTTCTAGGAATGCCTCTAAGTTTTCTACTTAATTCTGCCTTTAGGTCAAAATAATCTTGATGTTATCCTAAACAAACACATACTTAGCATAAATCTTGCCCTTAAGCAAATTATAGGCTATTAGGCAAATAGCATTCTTGCCTTTTCCAGAGGGGCTGACTTCAATTGTCCTACACATATCTTCTGAAGCATGTATACCCATTCCTCCTGGTATATAAGCCCTGAGTCTAGCGGGTAACAATGCAGGAATCCATCATCTTGCAGCTGCCCGATAAATGGCTT... | CCATCTTGGATGCTAATCTGCCACATTGACTACCCTCAGTTCTAGGAATGCCTCTAAGTTTTCTACTTAATTCTGCCTTTAGGTCAAAATAATCTTGATGTTATCCTAAACAAACACATACTTAGCATAAATCTTGCCCTTAAGCAAATTATAGGCTATTAGGCAAATAGCATTCTTGCCTTTTCCAGAGGGGCTGACTTCAATTGTCCTACACATATCTTCTGAAGCATGTATACCCATTCCTCCTGGTATATAAGCCCTGAGTCTAGCGGGTAACAATGCAGGAATCCATCATCTTGCAGCTGCCCGATAAATGGCTT... |
Task1_train_3673 | The gene NFU1 (NFU1 iron-sulfur cluster scaffold), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; NFU1-related disorder | CCATCTTGGATGCTAATCTGCCACATTGACTACCCTCAGTTCTAGGAATGCCTCTAAGTTTTCTACTTAATTCTGCCTTTAGGTCAAAATAATCTTGATGTTATCCTAAACAAACACATACTTAGCATAAATCTTGCCCTTAAGCAAATTATAGGCTATTAGGCAAATAGCATTCTTGCCTTTTCCAGAGGGGCTGACTTCAATTGTCCTACACATATCTTCTGAAGCATGTATACCCATTCCTCCTGGTATATAAGCCCTGAGTCTAGCGGGTAACAATGCAGGAATCCATCATCTTGCAGCTGCCCGATAAATGGCTT... | CCATCTTGGATGCTAATCTGCCACATTGACTACCCTCAGTTCTAGGAATGCCTCTAAGTTTTCTACTTAATTCTGCCTTTAGGTCAAAATAATCTTGATGTTATCCTAAACAAACACATACTTAGCATAAATCTTGCCCTTAAGCAAATTATAGGCTATTAGGCAAATAGCATTCTTGCCTTTTCCAGAGGGGCTGACTTCAATTGTCCTACACATATCTTCTGAAGCATGTATACCCATTCCTCCTGGTATATAAGCCCTGAGTCTAGCGGGTAACAATGCAGGAATCCATCATCTTGCAGCTGCCCGATAAATGGCTT... |
Task1_train_3674 | This variant lies on Chromosome 2 and affects the gene NFU1 (NFU1 iron-sulfur cluster scaffold). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Multiple mitochondrial dysfunctions syndrome 1 | ACTACAGGCCCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAATAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGGCACCGCACCCGGCCTCCAATTAATTATTCTTAATTCACAAAAATTATAGATATTTCCATGTACAACATGATGTTTTGAAATATGTAGGCCGGGAGCGGTGACCCACGCCTGTAATCCCGGCACTTTGGGAGGCCGAGGAGGGTAGATCACCTGAGGTCAGGAGGTCGTGAC... | ACTACAGGCCCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAATAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGGCACCGCACCCGGCCTCCAATTAATTATTCTTAATTCACAAAAATTATAGATATTTCCATGTACAACATGATGTTTTGAAATATGTAGGCCGGGAGCGGTGACCCACGCCTGTAATCCCGGCACTTTGGGAGGCCGAGGAGGGTAGATCACCTGAGGTCAGGAGGTCGTGAC... |
Task1_train_3675 | The variant affects gene ASPRV1 (aspartic peptidase retroviral like 1), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal dominant lamellar ichthyosis | GAGAGAGCAGCATGCGTTAGGCCACAGAGAGTGGGGCTGAAAATCAAATTTGAGAAGGGGGATGCAGGATCTGGGAGTCATCCGGAGACCACCCTTTCTCCAGTTCCCCCATCGCCTTCTCCAGTTCTCTCACCCCCTTCTCCAGTTCTCCCACCCACTTCTCTAGGCATCACTTTTCTGGAAATAGATTTCCTCCTGATCCCACACCTGTCCTTCCTCCAGGTGCCCTGGGGCTGATGGAGCTAATTTCAGTTAAGATGCTTGGCTGCCCAGGGAAGGGGCCTCGGTAAACCCCGAGGATTAGGGGCTGAGCCATGCCT... | GAGAGAGCAGCATGCGTTAGGCCACAGAGAGTGGGGCTGAAAATCAAATTTGAGAAGGGGGATGCAGGATCTGGGAGTCATCCGGAGACCACCCTTTCTCCAGTTCCCCCATCGCCTTCTCCAGTTCTCTCACCCCCTTCTCCAGTTCTCCCACCCACTTCTCTAGGCATCACTTTTCTGGAAATAGATTTCCTCCTGATCCCACACCTGTCCTTCCTCCAGGTGCCCTGGGGCTGATGGAGCTAATTTCAGTTAAGATGCTTGGCTGCCCAGGGAAGGGGCCTCGGTAAACCCCGAGGATTAGGGGCTGAGCCATGCCT... |
Task1_train_3676 | This is a variant in ASPRV1 (aspartic peptidase retroviral like 1), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Autosomal dominant lamellar ichthyosis | AGCATGCGTTAGGCCACAGAGAGTGGGGCTGAAAATCAAATTTGAGAAGGGGGATGCAGGATCTGGGAGTCATCCGGAGACCACCCTTTCTCCAGTTCCCCCATCGCCTTCTCCAGTTCTCTCACCCCCTTCTCCAGTTCTCCCACCCACTTCTCTAGGCATCACTTTTCTGGAAATAGATTTCCTCCTGATCCCACACCTGTCCTTCCTCCAGGTGCCCTGGGGCTGATGGAGCTAATTTCAGTTAAGATGCTTGGCTGCCCAGGGAAGGGGCCTCGGTAAACCCCGAGGATTAGGGGCTGAGCCATGCCTCAGTTCCC... | AGCATGCGTTAGGCCACAGAGAGTGGGGCTGAAAATCAAATTTGAGAAGGGGGATGCAGGATCTGGGAGTCATCCGGAGACCACCCTTTCTCCAGTTCCCCCATCGCCTTCTCCAGTTCTCTCACCCCCTTCTCCAGTTCTCCCACCCACTTCTCTAGGCATCACTTTTCTGGAAATAGATTTCCTCCTGATCCCACACCTGTCCTTCCTCCAGGTGCCCTGGGGCTGATGGAGCTAATTTCAGTTAAGATGCTTGGCTGCCCAGGGAAGGGGCCTCGGTAAACCCCGAGGATTAGGGGCTGAGCCATGCCTCAGTTCCC... |
Task1_train_3677 | The variant affects gene ASPRV1 (aspartic peptidase retroviral like 1), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal dominant lamellar ichthyosis | AATCGGAGGGAAGAAGGGGCCAGGGACGGGCAGCTGATCCTGGCTCAGATCAGCTTCAAAAAGTCCAGGGGCTTCACTCCTGCCTTCTGTCTCTCCCTCAGGAGCTGTCCAGGTGGGAACTTCAAGAGGCTCATTCCACCCTGGAGGATGGAAAATGGTCCTTCATGCCTCCATCAAGAGGTCTGGGATCCCTGCACGTTCGAGTCTCTGACCTTGCGCCAATCTTCCTGGGCCCAAAGTTTGGAGGGTGCAGGCCACCCTCCCCTGAGAACAGGCTCGCCCGATGTGCTTGGTGGGGAGGCCTGAGATTTGGAACAAAC... | AATCGGAGGGAAGAAGGGGCCAGGGACGGGCAGCTGATCCTGGCTCAGATCAGCTTCAAAAAGTCCAGGGGCTTCACTCCTGCCTTCTGTCTCTCCCTCAGGAGCTGTCCAGGTGGGAACTTCAAGAGGCTCATTCCACCCTGGAGGATGGAAAATGGTCCTTCATGCCTCCATCAAGAGGTCTGGGATCCCTGCACGTTCGAGTCTCTGACCTTGCGCCAATCTTCCTGGGCCCAAAGTTTGGAGGGTGCAGGCCACCCTCCCCTGAGAACAGGCTCGCCCGATGTGCTTGGTGGGGAGGCCTGAGATTTGGAACAAAC... |
Task1_train_3678 | Given this context: Chromosome 2, gene TIA1 (TIA1 cytotoxic granule associated RNA binding protein) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Welander distal myopathy | AGAGAACAATGAGGGTCCTAAAGTAGAAACATAAGCCAGAAGAAATCTAAAAATAGCTTCCTGATATTTTATTTTAAAATATTTCATTTAAGCTGCTTTTGGTTGCATGCCCTGATCTGTAGAAGTTAACAAGGAAATAAAATTTCCAAGTATTTAAAAAATTTACTCATCTTCCATAAAGCGACTTTTAATGTATCAACACTTAAAAATACACAGTGACTTAATGAAATATCAGCACAACTGCATAGAATTGAGCTCCAGAGAATTATACACTCGAGCTGTCTTTCCTGGGCTCTGGTTTATAAGGGTATTGGCTTAGA... | AGAGAACAATGAGGGTCCTAAAGTAGAAACATAAGCCAGAAGAAATCTAAAAATAGCTTCCTGATATTTTATTTTAAAATATTTCATTTAAGCTGCTTTTGGTTGCATGCCCTGATCTGTAGAAGTTAACAAGGAAATAAAATTTCCAAGTATTTAAAAAATTTACTCATCTTCCATAAAGCGACTTTTAATGTATCAACACTTAAAAATACACAGTGACTTAATGAAATATCAGCACAACTGCATAGAATTGAGCTCCAGAGAATTATACACTCGAGCTGTCTTTCCTGGGCTCTGGTTTATAAGGGTATTGGCTTAGA... |
Task1_train_3679 | A variant was discovered on Chromosome 2, affecting TIA1 (TIA1 cytotoxic granule associated RNA binding protein). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Welander distal myopathy | TGAGGGTCCTAAAGTAGAAACATAAGCCAGAAGAAATCTAAAAATAGCTTCCTGATATTTTATTTTAAAATATTTCATTTAAGCTGCTTTTGGTTGCATGCCCTGATCTGTAGAAGTTAACAAGGAAATAAAATTTCCAAGTATTTAAAAAATTTACTCATCTTCCATAAAGCGACTTTTAATGTATCAACACTTAAAAATACACAGTGACTTAATGAAATATCAGCACAACTGCATAGAATTGAGCTCCAGAGAATTATACACTCGAGCTGTCTTTCCTGGGCTCTGGTTTATAAGGGTATTGGCTTAGAGACCAGCTT... | TGAGGGTCCTAAAGTAGAAACATAAGCCAGAAGAAATCTAAAAATAGCTTCCTGATATTTTATTTTAAAATATTTCATTTAAGCTGCTTTTGGTTGCATGCCCTGATCTGTAGAAGTTAACAAGGAAATAAAATTTCCAAGTATTTAAAAAATTTACTCATCTTCCATAAAGCGACTTTTAATGTATCAACACTTAAAAATACACAGTGACTTAATGAAATATCAGCACAACTGCATAGAATTGAGCTCCAGAGAATTATACACTCGAGCTGTCTTTCCTGGGCTCTGGTTTATAAGGGTATTGGCTTAGAGACCAGCTT... |
Task1_train_3680 | With a mutation on Chromosome 2 in gene FIGLA (folliculogenesis specific bHLH transcription factor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Premature ovarian failure 6 | AGTATATCCTACCCTGGAGCAAACCAGACAAGGGACATAGTTGGCCAATTCACAGGAGAATACAACAACCACTCAGTGTATAAAAAGAATTTAATAATCAAAGAACTACAAACTAAAACAGAAATTAGATACCATTTTTTATGTATCAAGGTGGTAACATTTTTGTTTTATCATACCCAGGATAAGGGATAGCTTGAAAAAGAGAACAGTCCTAGACCTGTAAGAAGGGATAAAAATTAGTAAACCTATCTAGAAAGCAATTGGGTAACTTGTATCAAAAGCCATTCCATTGTATATGCCTTAAGTCTCAGTAATTTCAC... | AGTATATCCTACCCTGGAGCAAACCAGACAAGGGACATAGTTGGCCAATTCACAGGAGAATACAACAACCACTCAGTGTATAAAAAGAATTTAATAATCAAAGAACTACAAACTAAAACAGAAATTAGATACCATTTTTTATGTATCAAGGTGGTAACATTTTTGTTTTATCATACCCAGGATAAGGGATAGCTTGAAAAAGAGAACAGTCCTAGACCTGTAAGAAGGGATAAAAATTAGTAAACCTATCTAGAAAGCAATTGGGTAACTTGTATCAAAAGCCATTCCATTGTATATGCCTTAAGTCTCAGTAATTTCAC... |
Task1_train_3681 | A variant was discovered in gene ATP6V1B1 (ATPase H+ transporting V1 subunit B1), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Renal tubular acidosis with progressive nerve deafness | GTTTTGTTCTCAGCAAACTGATCTGGGCCATTCAACATAGTTTTTATTGTGCCTGGTGTTGATGCCTGTTCTCTTTTTACAATACATTCATGACCATTGGATGATATCAATTTGACATACATGGCATCAGGGACTTCATAGCCACCATAGGTTTTCTCCTCTCCATCCATTTTGTTCTTATGAAATCCTCCTTTGCTTCCCAAGGAACTTGAGAAGTTTTTCATTAGCCCCACAGCCACCATAGCCGGGTCCCCATGTACTGCCATAGCCCCATTCCAGGGCTGCCCCCTGACCCGGCTGCCTGCCCCCATGGGTTCCAG... | GTTTTGTTCTCAGCAAACTGATCTGGGCCATTCAACATAGTTTTTATTGTGCCTGGTGTTGATGCCTGTTCTCTTTTTACAATACATTCATGACCATTGGATGATATCAATTTGACATACATGGCATCAGGGACTTCATAGCCACCATAGGTTTTCTCCTCTCCATCCATTTTGTTCTTATGAAATCCTCCTTTGCTTCCCAAGGAACTTGAGAAGTTTTTCATTAGCCCCACAGCCACCATAGCCGGGTCCCCATGTACTGCCATAGCCCCATTCCAGGGCTGCCCCCTGACCCGGCTGCCTGCCCCCATGGGTTCCAG... |
Task1_train_3682 | Consider this mutation in ATP6V1B1 (ATPase H+ transporting V1 subunit B1) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Renal tubular acidosis with progressive nerve deafness | AGTTCATTTCCACAAGTGTCTGGACACTAGAGGGGAGAGAACAGTTTGGGACTGGGTCAGGGAGGGCCGGAGGAGGAGAAGGGACTTTGCCTCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGTTAAATCAATGAATTAACCCATAAAGTTCCCACACTATCTACAAACTCTGAAGGCAGGAA... | AGTTCATTTCCACAAGTGTCTGGACACTAGAGGGGAGAGAACAGTTTGGGACTGGGTCAGGGAGGGCCGGAGGAGGAGAAGGGACTTTGCCTCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGTTAAATCAATGAATTAACCCATAAAGTTCCCACACTATCTACAAACTCTGAAGGCAGGAA... |
Task1_train_3683 | A variant affecting Chromosome 2, within the gene ATP6V1B1 (ATPase H+ transporting V1 subunit B1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Renal tubular acidosis with progressive nerve deafness | AAGCCAGGGGATTGGGGGAAAAAAGATAGCTTCAGGAACGGGAGGCCTGGGAGGCCAGGGAGGTGGGCAGAGCAGCAGCTGGCGACAGGAGGGGCAGGGATGGCACTGAGCAGAGCTGGACTTAAAGAAGTCTCAGCCTCTCCAGGGGGATCTGACAAGGCCCTATGAGGACTGGGGCAGCAAACCCAGTGCCTGCCCTTTCCAGCCCCGGGGTCACCCCATGGCCTTGGTGTCTTCACCCCCAGCGACTGGTAGCTGGTCAGTCCACAGGCTTTCCTGAGGACACCTGGGAGGGGCCAGGCCTTGCCCTCAGGCCACAG... | AAGCCAGGGGATTGGGGGAAAAAAGATAGCTTCAGGAACGGGAGGCCTGGGAGGCCAGGGAGGTGGGCAGAGCAGCAGCTGGCGACAGGAGGGGCAGGGATGGCACTGAGCAGAGCTGGACTTAAAGAAGTCTCAGCCTCTCCAGGGGGATCTGACAAGGCCCTATGAGGACTGGGGCAGCAAACCCAGTGCCTGCCCTTTCCAGCCCCGGGGTCACCCCATGGCCTTGGTGTCTTCACCCCCAGCGACTGGTAGCTGGTCAGTCCACAGGCTTTCCTGAGGACACCTGGGAGGGGCCAGGCCTTGCCCTCAGGCCACAG... |
Task1_train_3684 | A variant affecting Chromosome 2, within the gene DYSF (dysferlin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Qualitative or quantitative defects of dysferlin | TTTATTATTTTATTTTATGTTTTTGAGGCAGAGTCTTGCTCTGTAACCCAGGCTGGAGTGCAGTGGTGTGATCGACTCATTGCGACCTCTGCCGCCAAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGGTGCATGCCACCACGCCTGGCTAATATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGAGATCCGCCTGGCTCGGCCTCCCAAAGGGATTACAGGCATGAACCACCTCGCCCAGGCTCTTTTGATGTGTTTTTAA... | TTTATTATTTTATTTTATGTTTTTGAGGCAGAGTCTTGCTCTGTAACCCAGGCTGGAGTGCAGTGGTGTGATCGACTCATTGCGACCTCTGCCGCCAAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGGTGCATGCCACCACGCCTGGCTAATATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGAGATCCGCCTGGCTCGGCCTCCCAAAGGGATTACAGGCATGAACCACCTCGCCCAGGCTCTTTTGATGTGTTTTTAA... |
Task1_train_3685 | The following genetic variant occurs in DYSF (dysferlin) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Qualitative or quantitative defects of dysferlin | AAACAGTTGGTCAGTAAATAACAGTTGATTCTAAAGTGGAGCCAGTAAATATCTTATTTTTTTCCATAGAATTGCCTTAATATTGTAAAATTTCATATTTTAAAATATCTTACCTAATATTTGGAAGCATAGACGTTCTTGAAGTCTTCATTTACTTACAGCTCAATGGCAAAAATTCTTAATTTATTTCTCAGAATGTAAGAAAGCATTGCATCTTATAAAGAATAAAGACTATTTCTGGGGTCACTTCACTGTGTAAGTTCGACCTCTGAGGGAATTGTCAATAAAGAATATTCAAGCCACTTAAAAATGCCAGTATC... | AAACAGTTGGTCAGTAAATAACAGTTGATTCTAAAGTGGAGCCAGTAAATATCTTATTTTTTTCCATAGAATTGCCTTAATATTGTAAAATTTCATATTTTAAAATATCTTACCTAATATTTGGAAGCATAGACGTTCTTGAAGTCTTCATTTACTTACAGCTCAATGGCAAAAATTCTTAATTTATTTCTCAGAATGTAAGAAAGCATTGCATCTTATAAAGAATAAAGACTATTTCTGGGGTCACTTCACTGTGTAAGTTCGACCTCTGAGGGAATTGTCAATAAAGAATATTCAAGCCACTTAAAAATGCCAGTATC... |
Task1_train_3686 | The variant affects gene DYSF (dysferlin), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Miyoshi muscular dystrophy 1 | AAACAGTTGGTCAGTAAATAACAGTTGATTCTAAAGTGGAGCCAGTAAATATCTTATTTTTTTCCATAGAATTGCCTTAATATTGTAAAATTTCATATTTTAAAATATCTTACCTAATATTTGGAAGCATAGACGTTCTTGAAGTCTTCATTTACTTACAGCTCAATGGCAAAAATTCTTAATTTATTTCTCAGAATGTAAGAAAGCATTGCATCTTATAAAGAATAAAGACTATTTCTGGGGTCACTTCACTGTGTAAGTTCGACCTCTGAGGGAATTGTCAATAAAGAATATTCAAGCCACTTAAAAATGCCAGTATC... | AAACAGTTGGTCAGTAAATAACAGTTGATTCTAAAGTGGAGCCAGTAAATATCTTATTTTTTTCCATAGAATTGCCTTAATATTGTAAAATTTCATATTTTAAAATATCTTACCTAATATTTGGAAGCATAGACGTTCTTGAAGTCTTCATTTACTTACAGCTCAATGGCAAAAATTCTTAATTTATTTCTCAGAATGTAAGAAAGCATTGCATCTTATAAAGAATAAAGACTATTTCTGGGGTCACTTCACTGTGTAAGTTCGACCTCTGAGGGAATTGTCAATAAAGAATATTCAAGCCACTTAAAAATGCCAGTATC... |
Task1_train_3687 | A mutation on Chromosome 2 affecting DYSF (dysferlin) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Qualitative or quantitative defects of dysferlin | AAACAGTTGGTCAGTAAATAACAGTTGATTCTAAAGTGGAGCCAGTAAATATCTTATTTTTTTCCATAGAATTGCCTTAATATTGTAAAATTTCATATTTTAAAATATCTTACCTAATATTTGGAAGCATAGACGTTCTTGAAGTCTTCATTTACTTACAGCTCAATGGCAAAAATTCTTAATTTATTTCTCAGAATGTAAGAAAGCATTGCATCTTATAAAGAATAAAGACTATTTCTGGGGTCACTTCACTGTGTAAGTTCGACCTCTGAGGGAATTGTCAATAAAGAATATTCAAGCCACTTAAAAATGCCAGTATC... | AAACAGTTGGTCAGTAAATAACAGTTGATTCTAAAGTGGAGCCAGTAAATATCTTATTTTTTTCCATAGAATTGCCTTAATATTGTAAAATTTCATATTTTAAAATATCTTACCTAATATTTGGAAGCATAGACGTTCTTGAAGTCTTCATTTACTTACAGCTCAATGGCAAAAATTCTTAATTTATTTCTCAGAATGTAAGAAAGCATTGCATCTTATAAAGAATAAAGACTATTTCTGGGGTCACTTCACTGTGTAAGTTCGACCTCTGAGGGAATTGTCAATAAAGAATATTCAAGCCACTTAAAAATGCCAGTATC... |
Task1_train_3688 | An alteration has been detected in DYSF (dysferlin) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | GAGTGCGTGGGGCGCGCCCTTGGGTGGGAGGTCTGCAGGAGGCTGGAGGCGCAGGGCTGGTGGGGGTGGGCGATGGCGGGCGGGGTCAGCTCCCTGGGGGAAGGAGAGGCGTCTAGGAAAACAATCAGAATTTAACGAAAAGTAATCAGTGCTGGTGGAGTTACAAAGATTCAAGAACTCTTGAGAGTAATAGCTGCCTCTCAGCTCCATTCCAATGTCCTCTGGGCCTGGTCTGGCAATATTTGGCCACTCTGTGGACCCATTTTCTTAGTTCTCATTGAGAAGTCAGCACCATCTGGACTCTATTCTGGCCTTAGGGC... | GAGTGCGTGGGGCGCGCCCTTGGGTGGGAGGTCTGCAGGAGGCTGGAGGCGCAGGGCTGGTGGGGGTGGGCGATGGCGGGCGGGGTCAGCTCCCTGGGGGAAGGAGAGGCGTCTAGGAAAACAATCAGAATTTAACGAAAAGTAATCAGTGCTGGTGGAGTTACAAAGATTCAAGAACTCTTGAGAGTAATAGCTGCCTCTCAGCTCCATTCCAATGTCCTCTGGGCCTGGTCTGGCAATATTTGGCCACTCTGTGGACCCATTTTCTTAGTTCTCATTGAGAAGTCAGCACCATCTGGACTCTATTCTGGCCTTAGGGC... |
Task1_train_3689 | Mutation context: Chromosome 2, Gene DYSF (dysferlin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Qualitative or quantitative defects of dysferlin | GAGTGCGTGGGGCGCGCCCTTGGGTGGGAGGTCTGCAGGAGGCTGGAGGCGCAGGGCTGGTGGGGGTGGGCGATGGCGGGCGGGGTCAGCTCCCTGGGGGAAGGAGAGGCGTCTAGGAAAACAATCAGAATTTAACGAAAAGTAATCAGTGCTGGTGGAGTTACAAAGATTCAAGAACTCTTGAGAGTAATAGCTGCCTCTCAGCTCCATTCCAATGTCCTCTGGGCCTGGTCTGGCAATATTTGGCCACTCTGTGGACCCATTTTCTTAGTTCTCATTGAGAAGTCAGCACCATCTGGACTCTATTCTGGCCTTAGGGC... | GAGTGCGTGGGGCGCGCCCTTGGGTGGGAGGTCTGCAGGAGGCTGGAGGCGCAGGGCTGGTGGGGGTGGGCGATGGCGGGCGGGGTCAGCTCCCTGGGGGAAGGAGAGGCGTCTAGGAAAACAATCAGAATTTAACGAAAAGTAATCAGTGCTGGTGGAGTTACAAAGATTCAAGAACTCTTGAGAGTAATAGCTGCCTCTCAGCTCCATTCCAATGTCCTCTGGGCCTGGTCTGGCAATATTTGGCCACTCTGTGGACCCATTTTCTTAGTTCTCATTGAGAAGTCAGCACCATCTGGACTCTATTCTGGCCTTAGGGC... |
Task1_train_3690 | This sequence change occurs on Chromosome 2, altering DYSF (dysferlin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | AATATTGCAGGAAATTTTTACTTTCTAGTTTTGTTTTTTTTTTTTTTTTTTTTTTTGCGGGGGGCGTGGTGGGAGGATGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTCCAATGGCGTGATCTTGGCTCATGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCAGGGATTACAGGCACACACCACCACCCCTGGCTAATTTTTGTATTTTTAGTAGAAACGGGGCTTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCATCTGCCTTGGCCTCCCAAAGT... | AATATTGCAGGAAATTTTTACTTTCTAGTTTTGTTTTTTTTTTTTTTTTTTTTTTTGCGGGGGGCGTGGTGGGAGGATGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTCCAATGGCGTGATCTTGGCTCATGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCAGGGATTACAGGCACACACCACCACCCCTGGCTAATTTTTGTATTTTTAGTAGAAACGGGGCTTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCATCTGCCTTGGCCTCCCAAAGT... |
Task1_train_3691 | Gene DYSF (dysferlin), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | ATGCTTTAAGGGGCAATTTCCTCCCACTTCCCCCAACCCTTCCTAAATGGGATAGGCTTGGGCTGATGCTCGAGTTAGACCACTCTGTCTGGTAGTGAGGGGTAGGGGCAGGCATGGGGGTCTGGAGTGGGGCAGGGGGAGTGTGAGGTGTTTCAGGGGCCAGGAGGAGGCCAAGAGGAGTTAAAAACTCTTGGAGTTGAAATCCCCAAGGTAAATCATAATTGAGATGATTAACGCAAATAATTAGTAATGCTCCTGTTAGCCCACCTACCTGGGCCTCCCACCTCTCCTGAAGGCCAGTGCCCTGTCTGTGCTGGGGT... | ATGCTTTAAGGGGCAATTTCCTCCCACTTCCCCCAACCCTTCCTAAATGGGATAGGCTTGGGCTGATGCTCGAGTTAGACCACTCTGTCTGGTAGTGAGGGGTAGGGGCAGGCATGGGGGTCTGGAGTGGGGCAGGGGGAGTGTGAGGTGTTTCAGGGGCCAGGAGGAGGCCAAGAGGAGTTAAAAACTCTTGGAGTTGAAATCCCCAAGGTAAATCATAATTGAGATGATTAACGCAAATAATTAGTAATGCTCCTGTTAGCCCACCTACCTGGGCCTCCCACCTCTCCTGAAGGCCAGTGCCCTGTCTGTGCTGGGGT... |
Task1_train_3692 | This is a variant in DYSF (dysferlin), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Qualitative or quantitative defects of dysferlin | TTTAAGGGGCAATTTCCTCCCACTTCCCCCAACCCTTCCTAAATGGGATAGGCTTGGGCTGATGCTCGAGTTAGACCACTCTGTCTGGTAGTGAGGGGTAGGGGCAGGCATGGGGGTCTGGAGTGGGGCAGGGGGAGTGTGAGGTGTTTCAGGGGCCAGGAGGAGGCCAAGAGGAGTTAAAAACTCTTGGAGTTGAAATCCCCAAGGTAAATCATAATTGAGATGATTAACGCAAATAATTAGTAATGCTCCTGTTAGCCCACCTACCTGGGCCTCCCACCTCTCCTGAAGGCCAGTGCCCTGTCTGTGCTGGGGTCTAG... | TTTAAGGGGCAATTTCCTCCCACTTCCCCCAACCCTTCCTAAATGGGATAGGCTTGGGCTGATGCTCGAGTTAGACCACTCTGTCTGGTAGTGAGGGGTAGGGGCAGGCATGGGGGTCTGGAGTGGGGCAGGGGGAGTGTGAGGTGTTTCAGGGGCCAGGAGGAGGCCAAGAGGAGTTAAAAACTCTTGGAGTTGAAATCCCCAAGGTAAATCATAATTGAGATGATTAACGCAAATAATTAGTAATGCTCCTGTTAGCCCACCTACCTGGGCCTCCCACCTCTCCTGAAGGCCAGTGCCCTGTCTGTGCTGGGGTCTAG... |
Task1_train_3693 | A variant was discovered on Chromosome 2, affecting DYSF (dysferlin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B | TTTAAGGGGCAATTTCCTCCCACTTCCCCCAACCCTTCCTAAATGGGATAGGCTTGGGCTGATGCTCGAGTTAGACCACTCTGTCTGGTAGTGAGGGGTAGGGGCAGGCATGGGGGTCTGGAGTGGGGCAGGGGGAGTGTGAGGTGTTTCAGGGGCCAGGAGGAGGCCAAGAGGAGTTAAAAACTCTTGGAGTTGAAATCCCCAAGGTAAATCATAATTGAGATGATTAACGCAAATAATTAGTAATGCTCCTGTTAGCCCACCTACCTGGGCCTCCCACCTCTCCTGAAGGCCAGTGCCCTGTCTGTGCTGGGGTCTAG... | TTTAAGGGGCAATTTCCTCCCACTTCCCCCAACCCTTCCTAAATGGGATAGGCTTGGGCTGATGCTCGAGTTAGACCACTCTGTCTGGTAGTGAGGGGTAGGGGCAGGCATGGGGGTCTGGAGTGGGGCAGGGGGAGTGTGAGGTGTTTCAGGGGCCAGGAGGAGGCCAAGAGGAGTTAAAAACTCTTGGAGTTGAAATCCCCAAGGTAAATCATAATTGAGATGATTAACGCAAATAATTAGTAATGCTCCTGTTAGCCCACCTACCTGGGCCTCCCACCTCTCCTGAAGGCCAGTGCCCTGTCTGTGCTGGGGTCTAG... |
Task1_train_3694 | Consider this mutation in DYSF (dysferlin) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Distal myopathy with anterior tibial onset | TTTAAGGGGCAATTTCCTCCCACTTCCCCCAACCCTTCCTAAATGGGATAGGCTTGGGCTGATGCTCGAGTTAGACCACTCTGTCTGGTAGTGAGGGGTAGGGGCAGGCATGGGGGTCTGGAGTGGGGCAGGGGGAGTGTGAGGTGTTTCAGGGGCCAGGAGGAGGCCAAGAGGAGTTAAAAACTCTTGGAGTTGAAATCCCCAAGGTAAATCATAATTGAGATGATTAACGCAAATAATTAGTAATGCTCCTGTTAGCCCACCTACCTGGGCCTCCCACCTCTCCTGAAGGCCAGTGCCCTGTCTGTGCTGGGGTCTAG... | TTTAAGGGGCAATTTCCTCCCACTTCCCCCAACCCTTCCTAAATGGGATAGGCTTGGGCTGATGCTCGAGTTAGACCACTCTGTCTGGTAGTGAGGGGTAGGGGCAGGCATGGGGGTCTGGAGTGGGGCAGGGGGAGTGTGAGGTGTTTCAGGGGCCAGGAGGAGGCCAAGAGGAGTTAAAAACTCTTGGAGTTGAAATCCCCAAGGTAAATCATAATTGAGATGATTAACGCAAATAATTAGTAATGCTCCTGTTAGCCCACCTACCTGGGCCTCCCACCTCTCCTGAAGGCCAGTGCCCTGTCTGTGCTGGGGTCTAG... |
Task1_train_3695 | Consider a variant on Chromosome 2 in gene DYSF (dysferlin). Determine its clinical classification and disease relevance. | Pathogenic; Miyoshi muscular dystrophy 1 | TTTAAGGGGCAATTTCCTCCCACTTCCCCCAACCCTTCCTAAATGGGATAGGCTTGGGCTGATGCTCGAGTTAGACCACTCTGTCTGGTAGTGAGGGGTAGGGGCAGGCATGGGGGTCTGGAGTGGGGCAGGGGGAGTGTGAGGTGTTTCAGGGGCCAGGAGGAGGCCAAGAGGAGTTAAAAACTCTTGGAGTTGAAATCCCCAAGGTAAATCATAATTGAGATGATTAACGCAAATAATTAGTAATGCTCCTGTTAGCCCACCTACCTGGGCCTCCCACCTCTCCTGAAGGCCAGTGCCCTGTCTGTGCTGGGGTCTAG... | TTTAAGGGGCAATTTCCTCCCACTTCCCCCAACCCTTCCTAAATGGGATAGGCTTGGGCTGATGCTCGAGTTAGACCACTCTGTCTGGTAGTGAGGGGTAGGGGCAGGCATGGGGGTCTGGAGTGGGGCAGGGGGAGTGTGAGGTGTTTCAGGGGCCAGGAGGAGGCCAAGAGGAGTTAAAAACTCTTGGAGTTGAAATCCCCAAGGTAAATCATAATTGAGATGATTAACGCAAATAATTAGTAATGCTCCTGTTAGCCCACCTACCTGGGCCTCCCACCTCTCCTGAAGGCCAGTGCCCTGTCTGTGCTGGGGTCTAG... |
Task1_train_3696 | A mutation in DYSF (dysferlin), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B | ACATCAACCTCTATGGCAGTCCCAGAGAGTTCACAGGCTTCCCAGACCCCTACACAGAGCTCAACACAGGCAAGGTAAGCCGGCTGGAGCCCTGGCAAGGGCAGGATGCCAGATGCCCAGGTCCCTCAGGAGCCCAGGCCTGCATGCAGGGTCTTCCAGCCCCTCCTGGGGGCCCACGACCTGGCAGCCAACCCCTCAGGGAGTTCTCCTTCTGCCCCTTGACACTGCCTCTGCCTGAGTGCCAGTCTGATCCTTCCATGTTCCTCGCCTTGAAGCACCCAGGCCCCGTCTCTCTGTCTTTGTCTTTTAGGCTGAGTTGG... | ACATCAACCTCTATGGCAGTCCCAGAGAGTTCACAGGCTTCCCAGACCCCTACACAGAGCTCAACACAGGCAAGGTAAGCCGGCTGGAGCCCTGGCAAGGGCAGGATGCCAGATGCCCAGGTCCCTCAGGAGCCCAGGCCTGCATGCAGGGTCTTCCAGCCCCTCCTGGGGGCCCACGACCTGGCAGCCAACCCCTCAGGGAGTTCTCCTTCTGCCCCTTGACACTGCCTCTGCCTGAGTGCCAGTCTGATCCTTCCATGTTCCTCGCCTTGAAGCACCCAGGCCCCGTCTCTCTGTCTTTGTCTTTTAGGCTGAGTTGG... |
Task1_train_3697 | Assess the clinical impact of this variant on gene DYSF (dysferlin), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Qualitative or quantitative defects of dysferlin | CTGGATTATTACCCACCCCGGTTCCATTGCTGGGTGACCTTGGGCAGGTGACTTAACCTCTCTGAACCTCAATGGACCAATTTGCAGAAGGAAGAGAGAGGGTACGATGGAATACTGGGTGTTATGGGGCCCAGCACAGAGCCTGGCACACAATAGGTAACTAATAAATGCCCTCTGTTTGCCAAAGTATGTCAGAGACAGAGCTGGGACCAGAATCCAAGGTACCTGGTTCTAGGTTCAGTGCCAGGGCCAGCTTCCCCAGGTTCCCGACTCCTACTTCCTGCCAGCCAGTGCCTGTCTGCACCTGGCCAACAACCTGC... | CTGGATTATTACCCACCCCGGTTCCATTGCTGGGTGACCTTGGGCAGGTGACTTAACCTCTCTGAACCTCAATGGACCAATTTGCAGAAGGAAGAGAGAGGGTACGATGGAATACTGGGTGTTATGGGGCCCAGCACAGAGCCTGGCACACAATAGGTAACTAATAAATGCCCTCTGTTTGCCAAAGTATGTCAGAGACAGAGCTGGGACCAGAATCCAAGGTACCTGGTTCTAGGTTCAGTGCCAGGGCCAGCTTCCCCAGGTTCCCGACTCCTACTTCCTGCCAGCCAGTGCCTGTCTGCACCTGGCCAACAACCTGC... |
Task1_train_3698 | A mutation in DYSF (dysferlin), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Qualitative or quantitative defects of dysferlin | GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATT... | GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATT... |
Task1_train_3699 | Mutation context: Chromosome 2, Gene DYSF (dysferlin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Miyoshi muscular dystrophy 1 | GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATT... | GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATT... |
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