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_25800 | The variant affects gene AFG3L2 (AFG3 like matrix AAA peptidase subunit 2), which is on Chromosome 18. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Optic atrophy | TCATACTTCTCAAACTGTTCTTTTTTTATTTCATTTTGCGTTCAGAAGGAGAGAAATAGGGAATGGGAAAGGATCATATTTTACATTAAAAAATTATTGGAATAAGCACATGAAAAGATGCTCAACATCACTAGTCATTAGAGAAGTGCAAATCAAAACAACAGTGAGATGCCAAATCACACCAGCTAGGATGGCTGTAATAAAAAGACAGTGACGAGTGCTGGCAAGGATGTGGAGAAACTGGGACCCTCACAGGTTACTGGTGGGAATGTAAAATGGCACAGGTAATTAAAACAACCTGGCAGTTCCTCAAAAAGTTA... | TCATACTTCTCAAACTGTTCTTTTTTTATTTCATTTTGCGTTCAGAAGGAGAGAAATAGGGAATGGGAAAGGATCATATTTTACATTAAAAAATTATTGGAATAAGCACATGAAAAGATGCTCAACATCACTAGTCATTAGAGAAGTGCAAATCAAAACAACAGTGAGATGCCAAATCACACCAGCTAGGATGGCTGTAATAAAAAGACAGTGACGAGTGCTGGCAAGGATGTGGAGAAACTGGGACCCTCACAGGTTACTGGTGGGAATGTAAAATGGCACAGGTAATTAAAACAACCTGGCAGTTCCTCAAAAAGTTA... |
Task1_train_25801 | Gene AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) on Chromosome 18 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Optic atrophy 12 | GAGAAACTGGGACCCTCACAGGTTACTGGTGGGAATGTAAAATGGCACAGGTAATTAAAACAACCTGGCAGTTCCTCAAAAAGTTAGAGTTACCATATCACCCAGCAATTCCACTCCTAGGTATATACCAAGAGAAACACTATGACCACAAAAAATCTGTACACCGATGTTCATGGCAGCATTATTCATAATAGCCAAAAAGTGGAAACAGCCCAAATGGCCATCAACTGATGGGTGGATCAACAAGATGTGGAACAGCCAAACAATGGCACATTTACTTGGCCACAAAAAGGAATGAAGTTCTGATGCCTGCCACAATT... | GAGAAACTGGGACCCTCACAGGTTACTGGTGGGAATGTAAAATGGCACAGGTAATTAAAACAACCTGGCAGTTCCTCAAAAAGTTAGAGTTACCATATCACCCAGCAATTCCACTCCTAGGTATATACCAAGAGAAACACTATGACCACAAAAAATCTGTACACCGATGTTCATGGCAGCATTATTCATAATAGCCAAAAAGTGGAAACAGCCCAAATGGCCATCAACTGATGGGTGGATCAACAAGATGTGGAACAGCCAAACAATGGCACATTTACTTGGCCACAAAAAGGAATGAAGTTCTGATGCCTGCCACAATT... |
Task1_train_25802 | With a mutation on Chromosome 18 in gene AFG3L2 (AFG3 like matrix AAA peptidase subunit 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Intellectual disability | GGGACCCTCACAGGTTACTGGTGGGAATGTAAAATGGCACAGGTAATTAAAACAACCTGGCAGTTCCTCAAAAAGTTAGAGTTACCATATCACCCAGCAATTCCACTCCTAGGTATATACCAAGAGAAACACTATGACCACAAAAAATCTGTACACCGATGTTCATGGCAGCATTATTCATAATAGCCAAAAAGTGGAAACAGCCCAAATGGCCATCAACTGATGGGTGGATCAACAAGATGTGGAACAGCCAAACAATGGCACATTTACTTGGCCACAAAAAGGAATGAAGTTCTGATGCCTGCCACAATTTGAATCAA... | GGGACCCTCACAGGTTACTGGTGGGAATGTAAAATGGCACAGGTAATTAAAACAACCTGGCAGTTCCTCAAAAAGTTAGAGTTACCATATCACCCAGCAATTCCACTCCTAGGTATATACCAAGAGAAACACTATGACCACAAAAAATCTGTACACCGATGTTCATGGCAGCATTATTCATAATAGCCAAAAAGTGGAAACAGCCCAAATGGCCATCAACTGATGGGTGGATCAACAAGATGTGGAACAGCCAAACAATGGCACATTTACTTGGCCACAAAAAGGAATGAAGTTCTGATGCCTGCCACAATTTGAATCAA... |
Task1_train_25803 | This sequence change occurs on Chromosome 18, altering AFG3L2 (AFG3 like matrix AAA peptidase subunit 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Optic atrophy | GGGACCCTCACAGGTTACTGGTGGGAATGTAAAATGGCACAGGTAATTAAAACAACCTGGCAGTTCCTCAAAAAGTTAGAGTTACCATATCACCCAGCAATTCCACTCCTAGGTATATACCAAGAGAAACACTATGACCACAAAAAATCTGTACACCGATGTTCATGGCAGCATTATTCATAATAGCCAAAAAGTGGAAACAGCCCAAATGGCCATCAACTGATGGGTGGATCAACAAGATGTGGAACAGCCAAACAATGGCACATTTACTTGGCCACAAAAAGGAATGAAGTTCTGATGCCTGCCACAATTTGAATCAA... | GGGACCCTCACAGGTTACTGGTGGGAATGTAAAATGGCACAGGTAATTAAAACAACCTGGCAGTTCCTCAAAAAGTTAGAGTTACCATATCACCCAGCAATTCCACTCCTAGGTATATACCAAGAGAAACACTATGACCACAAAAAATCTGTACACCGATGTTCATGGCAGCATTATTCATAATAGCCAAAAAGTGGAAACAGCCCAAATGGCCATCAACTGATGGGTGGATCAACAAGATGTGGAACAGCCAAACAATGGCACATTTACTTGGCCACAAAAAGGAATGAAGTTCTGATGCCTGCCACAATTTGAATCAA... |
Task1_train_25804 | A variant on Chromosome 18 in gene AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | ACTGGTGGGAATGTAAAATGGCACAGGTAATTAAAACAACCTGGCAGTTCCTCAAAAAGTTAGAGTTACCATATCACCCAGCAATTCCACTCCTAGGTATATACCAAGAGAAACACTATGACCACAAAAAATCTGTACACCGATGTTCATGGCAGCATTATTCATAATAGCCAAAAAGTGGAAACAGCCCAAATGGCCATCAACTGATGGGTGGATCAACAAGATGTGGAACAGCCAAACAATGGCACATTTACTTGGCCACAAAAAGGAATGAAGTTCTGATGCCTGCCACAATTTGAATCAATCCTGTTCATTATGTT... | ACTGGTGGGAATGTAAAATGGCACAGGTAATTAAAACAACCTGGCAGTTCCTCAAAAAGTTAGAGTTACCATATCACCCAGCAATTCCACTCCTAGGTATATACCAAGAGAAACACTATGACCACAAAAAATCTGTACACCGATGTTCATGGCAGCATTATTCATAATAGCCAAAAAGTGGAAACAGCCCAAATGGCCATCAACTGATGGGTGGATCAACAAGATGTGGAACAGCCAAACAATGGCACATTTACTTGGCCACAAAAAGGAATGAAGTTCTGATGCCTGCCACAATTTGAATCAATCCTGTTCATTATGTT... |
Task1_train_25805 | This variant affects the gene AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) found on Chromosome 18. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Spinocerebellar ataxia type 28 | AGCCCACAGTAAAGAAGTGAAAAGGTAAGAAAGTAAACCGGTACCTGGTAACTGTTACTGATTTTAATATGCTTCTAAATAGGGTCCTCGTTATTTTCCACTCACCTGAAAACCCTGGAGTTAAAGATGCCAGTTTTCTTGCCAATTTATCCTTCTCCAGGGTACTGTCCAGTTTTAGCGGTCGGAGATGAACTTTGAAAATAGAAGCTCTTCCTTTTATGTCTGGTGGTCCTTTAGAAATCATTTTTAAGGAAAAGAAAATCATATTGAAACAGTCACACCTACACTCATGAGCACTGGACCTGCCCCAGCAAACATCA... | AGCCCACAGTAAAGAAGTGAAAAGGTAAGAAAGTAAACCGGTACCTGGTAACTGTTACTGATTTTAATATGCTTCTAAATAGGGTCCTCGTTATTTTCCACTCACCTGAAAACCCTGGAGTTAAAGATGCCAGTTTTCTTGCCAATTTATCCTTCTCCAGGGTACTGTCCAGTTTTAGCGGTCGGAGATGAACTTTGAAAATAGAAGCTCTTCCTTTTATGTCTGGTGGTCCTTTAGAAATCATTTTTAAGGAAAAGAAAATCATATTGAAACAGTCACACCTACACTCATGAGCACTGGACCTGCCCCAGCAAACATCA... |
Task1_train_25806 | Here is a variant affecting AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) on Chromosome 18. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Optic atrophy | CAGTAAAGAAGTGAAAAGGTAAGAAAGTAAACCGGTACCTGGTAACTGTTACTGATTTTAATATGCTTCTAAATAGGGTCCTCGTTATTTTCCACTCACCTGAAAACCCTGGAGTTAAAGATGCCAGTTTTCTTGCCAATTTATCCTTCTCCAGGGTACTGTCCAGTTTTAGCGGTCGGAGATGAACTTTGAAAATAGAAGCTCTTCCTTTTATGTCTGGTGGTCCTTTAGAAATCATTTTTAAGGAAAAGAAAATCATATTGAAACAGTCACACCTACACTCATGAGCACTGGACCTGCCCCAGCAAACATCATCTCAC... | CAGTAAAGAAGTGAAAAGGTAAGAAAGTAAACCGGTACCTGGTAACTGTTACTGATTTTAATATGCTTCTAAATAGGGTCCTCGTTATTTTCCACTCACCTGAAAACCCTGGAGTTAAAGATGCCAGTTTTCTTGCCAATTTATCCTTCTCCAGGGTACTGTCCAGTTTTAGCGGTCGGAGATGAACTTTGAAAATAGAAGCTCTTCCTTTTATGTCTGGTGGTCCTTTAGAAATCATTTTTAAGGAAAAGAAAATCATATTGAAACAGTCACACCTACACTCATGAGCACTGGACCTGCCCCAGCAAACATCATCTCAC... |
Task1_train_25807 | Located on Chromosome 18, this mutation impacts AFG3L2 (AFG3 like matrix AAA peptidase subunit 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Reduced tendon reflexes | CAGTAAAGAAGTGAAAAGGTAAGAAAGTAAACCGGTACCTGGTAACTGTTACTGATTTTAATATGCTTCTAAATAGGGTCCTCGTTATTTTCCACTCACCTGAAAACCCTGGAGTTAAAGATGCCAGTTTTCTTGCCAATTTATCCTTCTCCAGGGTACTGTCCAGTTTTAGCGGTCGGAGATGAACTTTGAAAATAGAAGCTCTTCCTTTTATGTCTGGTGGTCCTTTAGAAATCATTTTTAAGGAAAAGAAAATCATATTGAAACAGTCACACCTACACTCATGAGCACTGGACCTGCCCCAGCAAACATCATCTCAC... | CAGTAAAGAAGTGAAAAGGTAAGAAAGTAAACCGGTACCTGGTAACTGTTACTGATTTTAATATGCTTCTAAATAGGGTCCTCGTTATTTTCCACTCACCTGAAAACCCTGGAGTTAAAGATGCCAGTTTTCTTGCCAATTTATCCTTCTCCAGGGTACTGTCCAGTTTTAGCGGTCGGAGATGAACTTTGAAAATAGAAGCTCTTCCTTTTATGTCTGGTGGTCCTTTAGAAATCATTTTTAAGGAAAAGAAAATCATATTGAAACAGTCACACCTACACTCATGAGCACTGGACCTGCCCCAGCAAACATCATCTCAC... |
Task1_train_25808 | This sequence variant lies in AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) on Chromosome 18. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | TAAATAGGGTCCTCGTTATTTTCCACTCACCTGAAAACCCTGGAGTTAAAGATGCCAGTTTTCTTGCCAATTTATCCTTCTCCAGGGTACTGTCCAGTTTTAGCGGTCGGAGATGAACTTTGAAAATAGAAGCTCTTCCTTTTATGTCTGGTGGTCCTTTAGAAATCATTTTTAAGGAAAAGAAAATCATATTGAAACAGTCACACCTACACTCATGAGCACTGGACCTGCCCCAGCAAACATCATCTCACCAATAAAGATCTGCCTGTCGAAACGCCCCGGCCTAAGCAGCGCGGGGTCCAGGATATCTGGTCGATTGG... | TAAATAGGGTCCTCGTTATTTTCCACTCACCTGAAAACCCTGGAGTTAAAGATGCCAGTTTTCTTGCCAATTTATCCTTCTCCAGGGTACTGTCCAGTTTTAGCGGTCGGAGATGAACTTTGAAAATAGAAGCTCTTCCTTTTATGTCTGGTGGTCCTTTAGAAATCATTTTTAAGGAAAAGAAAATCATATTGAAACAGTCACACCTACACTCATGAGCACTGGACCTGCCCCAGCAAACATCATCTCACCAATAAAGATCTGCCTGTCGAAACGCCCCGGCCTAAGCAGCGCGGGGTCCAGGATATCTGGTCGATTGG... |
Task1_train_25809 | Gene AFG3L2 (AFG3 like matrix AAA peptidase subunit 2), found on Chromosome 18, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Optic atrophy | CCCCTCCTATCATCTGGACCCACAGACACACTCAGGTATCTCACGCCAACTCTTTACCACTTCTCAGCTCTGCAACCCACCAGGCCCACCCTTCCCCACCACCCCCCACAGCTCCTCTCCTGTCTTCAATTTCCCCCCATCCACTTTATATCTCATGGCCCATCATCATTAACACCCAACTCCCCCTCATTCCCTATTTTTCTATGACTTATCTGCACAACAACAGCAAAGTGTGAAATAGATGTGAAGGTGAGGCCGGACAAGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGGCAAGGCAGGGGGTGCATCAC... | CCCCTCCTATCATCTGGACCCACAGACACACTCAGGTATCTCACGCCAACTCTTTACCACTTCTCAGCTCTGCAACCCACCAGGCCCACCCTTCCCCACCACCCCCCACAGCTCCTCTCCTGTCTTCAATTTCCCCCCATCCACTTTATATCTCATGGCCCATCATCATTAACACCCAACTCCCCCTCATTCCCTATTTTTCTATGACTTATCTGCACAACAACAGCAAAGTGTGAAATAGATGTGAAGGTGAGGCCGGACAAGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGGCAAGGCAGGGGGTGCATCAC... |
Task1_train_25810 | This variant affects gene AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) located on Chromosome 18. Evaluate its biological effect and specify any disease association. | Pathogenic; Optic atrophy | CCCACCACCCCCCACAGCTCCTCTCCTGTCTTCAATTTCCCCCCATCCACTTTATATCTCATGGCCCATCATCATTAACACCCAACTCCCCCTCATTCCCTATTTTTCTATGACTTATCTGCACAACAACAGCAAAGTGTGAAATAGATGTGAAGGTGAGGCCGGACAAGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGGCAAGGCAGGGGGTGCATCACCTGAAGTGAGGAGTTCAATACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGTGCC... | CCCACCACCCCCCACAGCTCCTCTCCTGTCTTCAATTTCCCCCCATCCACTTTATATCTCATGGCCCATCATCATTAACACCCAACTCCCCCTCATTCCCTATTTTTCTATGACTTATCTGCACAACAACAGCAAAGTGTGAAATAGATGTGAAGGTGAGGCCGGACAAGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGGCAAGGCAGGGGGTGCATCACCTGAAGTGAGGAGTTCAATACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGTGCC... |
Task1_train_25811 | A variant found in Chromosome 18 affects AFG3L2 (AFG3 like matrix AAA peptidase subunit 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Optic atrophy 12 | TGTGGTGAAGTGGTGGGTGCAAGGAAGCTGTACCATCCGAACAGAATGAGACTCACTCTAGCAGGGCCCACACCAACGAACATCTCCAAAAACTCAGATCCACTAACGGTGATGAAGGGGACATTGGCTTCTCCGGCTGTGGCCTTAGCTAGCAGCGTCTTCCCAGTGCCTGGAGGACCAGTGAGAATGGCACCCTTCAGATATGAAAAAAGAAATTACATTTAATGAGAATTCCAGAAAAGTAAATTGTGTATCCACAAATAATTACAAGATATAACTCTGTCTCTAAATCTTATTGATATATATTAAATATTACTTAA... | TGTGGTGAAGTGGTGGGTGCAAGGAAGCTGTACCATCCGAACAGAATGAGACTCACTCTAGCAGGGCCCACACCAACGAACATCTCCAAAAACTCAGATCCACTAACGGTGATGAAGGGGACATTGGCTTCTCCGGCTGTGGCCTTAGCTAGCAGCGTCTTCCCAGTGCCTGGAGGACCAGTGAGAATGGCACCCTTCAGATATGAAAAAAGAAATTACATTTAATGAGAATTCCAGAAAAGTAAATTGTGTATCCACAAATAATTACAAGATATAACTCTGTCTCTAAATCTTATTGATATATATTAAATATTACTTAA... |
Task1_train_25812 | A variant affecting Chromosome 18, within the gene AFG3L2 (AFG3 like matrix AAA peptidase subunit 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Spastic ataxia 5 | CAGATCCACTAACGGTGATGAAGGGGACATTGGCTTCTCCGGCTGTGGCCTTAGCTAGCAGCGTCTTCCCAGTGCCTGGAGGACCAGTGAGAATGGCACCCTTCAGATATGAAAAAAGAAATTACATTTAATGAGAATTCCAGAAAAGTAAATTGTGTATCCACAAATAATTACAAGATATAACTCTGTCTCTAAATCTTATTGATATATATTAAATATTACTTAAACATCTGAGCTATGGTAGAACATTTTTATATTAGTAAGAATAAAAAGATTATCAAAAATAATTTTGTTTCAAAAAATTTGGTAAGAATGTGAAA... | CAGATCCACTAACGGTGATGAAGGGGACATTGGCTTCTCCGGCTGTGGCCTTAGCTAGCAGCGTCTTCCCAGTGCCTGGAGGACCAGTGAGAATGGCACCCTTCAGATATGAAAAAAGAAATTACATTTAATGAGAATTCCAGAAAAGTAAATTGTGTATCCACAAATAATTACAAGATATAACTCTGTCTCTAAATCTTATTGATATATATTAAATATTACTTAAACATCTGAGCTATGGTAGAACATTTTTATATTAGTAAGAATAAAAAGATTATCAAAAATAATTTTGTTTCAAAAAATTTGGTAAGAATGTGAAA... |
Task1_train_25813 | A sequence alteration has been identified in MC2R (melanocortin 2 receptor) on Chromosome 18. Is it disease-inducing or harmless? | Pathogenic; not provided | AAAGGTTACCTCTTATTGAGAATACGCACTTTAATCACATAAAATATGTTATACATTACTTTTTCAATGGTAGAAATAACACTTTTAAAAATTAGTTCTAGGGTTGTGCTTTAGATTTCATGAAAAATTAACTTATATATATCTCATATATTAATTAATACAGGTTAGTATTAGAGTAACATAGTTCATTTGGCAGGGGAAGGATCAAACAGGGAAGGATTTCTACAGAACAGAGGACAAGAAGGTGCACCTTTCACCTCCATCTGTGGGACAGGCCATGTGAAAGCACGCCTGCCACTGTCCTCACTTGACTCCAGCTG... | AAAGGTTACCTCTTATTGAGAATACGCACTTTAATCACATAAAATATGTTATACATTACTTTTTCAATGGTAGAAATAACACTTTTAAAAATTAGTTCTAGGGTTGTGCTTTAGATTTCATGAAAAATTAACTTATATATATCTCATATATTAATTAATACAGGTTAGTATTAGAGTAACATAGTTCATTTGGCAGGGGAAGGATCAAACAGGGAAGGATTTCTACAGAACAGAGGACAAGAAGGTGCACCTTTCACCTCCATCTGTGGGACAGGCCATGTGAAAGCACGCCTGCCACTGTCCTCACTTGACTCCAGCTG... |
Task1_train_25814 | This genomic variant is located on Chromosome 18, within the MC2R (melanocortin 2 receptor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Glucocorticoid deficiency 1 | TACCTCTTATTGAGAATACGCACTTTAATCACATAAAATATGTTATACATTACTTTTTCAATGGTAGAAATAACACTTTTAAAAATTAGTTCTAGGGTTGTGCTTTAGATTTCATGAAAAATTAACTTATATATATCTCATATATTAATTAATACAGGTTAGTATTAGAGTAACATAGTTCATTTGGCAGGGGAAGGATCAAACAGGGAAGGATTTCTACAGAACAGAGGACAAGAAGGTGCACCTTTCACCTCCATCTGTGGGACAGGCCATGTGAAAGCACGCCTGCCACTGTCCTCACTTGACTCCAGCTGCCTTGC... | TACCTCTTATTGAGAATACGCACTTTAATCACATAAAATATGTTATACATTACTTTTTCAATGGTAGAAATAACACTTTTAAAAATTAGTTCTAGGGTTGTGCTTTAGATTTCATGAAAAATTAACTTATATATATCTCATATATTAATTAATACAGGTTAGTATTAGAGTAACATAGTTCATTTGGCAGGGGAAGGATCAAACAGGGAAGGATTTCTACAGAACAGAGGACAAGAAGGTGCACCTTTCACCTCCATCTGTGGGACAGGCCATGTGAAAGCACGCCTGCCACTGTCCTCACTTGACTCCAGCTGCCTTGC... |
Task1_train_25815 | Given a variant located on Chromosome 18 and affecting MC2R (melanocortin 2 receptor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Glucocorticoid deficiency 1 | TTGAGAATACGCACTTTAATCACATAAAATATGTTATACATTACTTTTTCAATGGTAGAAATAACACTTTTAAAAATTAGTTCTAGGGTTGTGCTTTAGATTTCATGAAAAATTAACTTATATATATCTCATATATTAATTAATACAGGTTAGTATTAGAGTAACATAGTTCATTTGGCAGGGGAAGGATCAAACAGGGAAGGATTTCTACAGAACAGAGGACAAGAAGGTGCACCTTTCACCTCCATCTGTGGGACAGGCCATGTGAAAGCACGCCTGCCACTGTCCTCACTTGACTCCAGCTGCCTTGCCTCCTTTGC... | TTGAGAATACGCACTTTAATCACATAAAATATGTTATACATTACTTTTTCAATGGTAGAAATAACACTTTTAAAAATTAGTTCTAGGGTTGTGCTTTAGATTTCATGAAAAATTAACTTATATATATCTCATATATTAATTAATACAGGTTAGTATTAGAGTAACATAGTTCATTTGGCAGGGGAAGGATCAAACAGGGAAGGATTTCTACAGAACAGAGGACAAGAAGGTGCACCTTTCACCTCCATCTGTGGGACAGGCCATGTGAAAGCACGCCTGCCACTGTCCTCACTTGACTCCAGCTGCCTTGCCTCCTTTGC... |
Task1_train_25816 | With a mutation on Chromosome 18 in gene MC2R (melanocortin 2 receptor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Glucocorticoid deficiency 1 | AGTTCTAGGGTTGTGCTTTAGATTTCATGAAAAATTAACTTATATATATCTCATATATTAATTAATACAGGTTAGTATTAGAGTAACATAGTTCATTTGGCAGGGGAAGGATCAAACAGGGAAGGATTTCTACAGAACAGAGGACAAGAAGGTGCACCTTTCACCTCCATCTGTGGGACAGGCCATGTGAAAGCACGCCTGCCACTGTCCTCACTTGACTCCAGCTGCCTTGCCTCCTTTGCTTCTGAAGTTCCTGTCCCTGCCACTTCTAATATCAAACCCATCACCAAATGGTCTGTCCTGTGTGTGGCTGTCTTCTC... | AGTTCTAGGGTTGTGCTTTAGATTTCATGAAAAATTAACTTATATATATCTCATATATTAATTAATACAGGTTAGTATTAGAGTAACATAGTTCATTTGGCAGGGGAAGGATCAAACAGGGAAGGATTTCTACAGAACAGAGGACAAGAAGGTGCACCTTTCACCTCCATCTGTGGGACAGGCCATGTGAAAGCACGCCTGCCACTGTCCTCACTTGACTCCAGCTGCCTTGCCTCCTTTGCTTCTGAAGTTCCTGTCCCTGCCACTTCTAATATCAAACCCATCACCAAATGGTCTGTCCTGTGTGTGGCTGTCTTCTC... |
Task1_train_25817 | A sequence alteration has been identified in MC2R (melanocortin 2 receptor) on Chromosome 18. Is it disease-inducing or harmless? | Pathogenic; Glucocorticoid deficiency 1 | CTTCTGAAGTTCCTGTCCCTGCCACTTCTAATATCAAACCCATCACCAAATGGTCTGTCCTGTGTGTGGCTGTCTTCTCCCCTCAGCAGCTCTGGGAAATTCTCCTGAGGGCAAAGCATTGCCTGTTCTGGAAGATACCATCCATCCTGCAGATCCTGAGCCTGGTGGCCTCTGAAGCCCCACTGCTCTCCTCTGTCCCTTTCACCTTTCACCCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAAAATGAATGAACTTGCAAATTATGTTTC... | CTTCTGAAGTTCCTGTCCCTGCCACTTCTAATATCAAACCCATCACCAAATGGTCTGTCCTGTGTGTGGCTGTCTTCTCCCCTCAGCAGCTCTGGGAAATTCTCCTGAGGGCAAAGCATTGCCTGTTCTGGAAGATACCATCCATCCTGCAGATCCTGAGCCTGGTGGCCTCTGAAGCCCCACTGCTCTCCTCTGTCCCTTTCACCTTTCACCCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAAAATGAATGAACTTGCAAATTATGTTTC... |
Task1_train_25818 | The gene MC2R (melanocortin 2 receptor) on Chromosome 18 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Glucocorticoid deficiency 1 | TTCCTGTCCCTGCCACTTCTAATATCAAACCCATCACCAAATGGTCTGTCCTGTGTGTGGCTGTCTTCTCCCCTCAGCAGCTCTGGGAAATTCTCCTGAGGGCAAAGCATTGCCTGTTCTGGAAGATACCATCCATCCTGCAGATCCTGAGCCTGGTGGCCTCTGAAGCCCCACTGCTCTCCTCTGTCCCTTTCACCTTTCACCCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAAAATGAATGAACTTGCAAATTATGTTTCTTTTATTCC... | TTCCTGTCCCTGCCACTTCTAATATCAAACCCATCACCAAATGGTCTGTCCTGTGTGTGGCTGTCTTCTCCCCTCAGCAGCTCTGGGAAATTCTCCTGAGGGCAAAGCATTGCCTGTTCTGGAAGATACCATCCATCCTGCAGATCCTGAGCCTGGTGGCCTCTGAAGCCCCACTGCTCTCCTCTGTCCCTTTCACCTTTCACCCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAAAATGAATGAACTTGCAAATTATGTTTCTTTTATTCC... |
Task1_train_25819 | Consider a variant on Chromosome 18 in gene MC2R (melanocortin 2 receptor). Determine its clinical classification and disease relevance. | Pathogenic; Glucocorticoid Deficiency | ACTTCTAATATCAAACCCATCACCAAATGGTCTGTCCTGTGTGTGGCTGTCTTCTCCCCTCAGCAGCTCTGGGAAATTCTCCTGAGGGCAAAGCATTGCCTGTTCTGGAAGATACCATCCATCCTGCAGATCCTGAGCCTGGTGGCCTCTGAAGCCCCACTGCTCTCCTCTGTCCCTTTCACCTTTCACCCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAAAATGAATGAACTTGCAAATTATGTTTCTTTTATTCCTACTGGGGTTGCCA... | ACTTCTAATATCAAACCCATCACCAAATGGTCTGTCCTGTGTGTGGCTGTCTTCTCCCCTCAGCAGCTCTGGGAAATTCTCCTGAGGGCAAAGCATTGCCTGTTCTGGAAGATACCATCCATCCTGCAGATCCTGAGCCTGGTGGCCTCTGAAGCCCCACTGCTCTCCTCTGTCCCTTTCACCTTTCACCCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAAAATGAATGAACTTGCAAATTATGTTTCTTTTATTCCTACTGGGGTTGCCA... |
Task1_train_25820 | Here is a mutation in MC2R (melanocortin 2 receptor) on Chromosome 18. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Glucocorticoid deficiency 1 | CTTCTAATATCAAACCCATCACCAAATGGTCTGTCCTGTGTGTGGCTGTCTTCTCCCCTCAGCAGCTCTGGGAAATTCTCCTGAGGGCAAAGCATTGCCTGTTCTGGAAGATACCATCCATCCTGCAGATCCTGAGCCTGGTGGCCTCTGAAGCCCCACTGCTCTCCTCTGTCCCTTTCACCTTTCACCCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAAAATGAATGAACTTGCAAATTATGTTTCTTTTATTCCTACTGGGGTTGCCAC... | CTTCTAATATCAAACCCATCACCAAATGGTCTGTCCTGTGTGTGGCTGTCTTCTCCCCTCAGCAGCTCTGGGAAATTCTCCTGAGGGCAAAGCATTGCCTGTTCTGGAAGATACCATCCATCCTGCAGATCCTGAGCCTGGTGGCCTCTGAAGCCCCACTGCTCTCCTCTGTCCCTTTCACCTTTCACCCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAAAATGAATGAACTTGCAAATTATGTTTCTTTTATTCCTACTGGGGTTGCCAC... |
Task1_train_25821 | With a mutation on Chromosome 18 in gene MC2R (melanocortin 2 receptor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Glucocorticoid deficiency 1 | GGTCTGTCCTGTGTGTGGCTGTCTTCTCCCCTCAGCAGCTCTGGGAAATTCTCCTGAGGGCAAAGCATTGCCTGTTCTGGAAGATACCATCCATCCTGCAGATCCTGAGCCTGGTGGCCTCTGAAGCCCCACTGCTCTCCTCTGTCCCTTTCACCTTTCACCCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAAAATGAATGAACTTGCAAATTATGTTTCTTTTATTCCTACTGGGGTTGCCACTCTTCCATTGCTGGCATCTTGGCTGAT... | GGTCTGTCCTGTGTGTGGCTGTCTTCTCCCCTCAGCAGCTCTGGGAAATTCTCCTGAGGGCAAAGCATTGCCTGTTCTGGAAGATACCATCCATCCTGCAGATCCTGAGCCTGGTGGCCTCTGAAGCCCCACTGCTCTCCTCTGTCCCTTTCACCTTTCACCCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAAAATGAATGAACTTGCAAATTATGTTTCTTTTATTCCTACTGGGGTTGCCACTCTTCCATTGCTGGCATCTTGGCTGAT... |
Task1_train_25822 | A variant has been detected on Chromosome 18 in MC2R (melanocortin 2 receptor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Glucocorticoid deficiency 1 | TCCTGTGTGTGGCTGTCTTCTCCCCTCAGCAGCTCTGGGAAATTCTCCTGAGGGCAAAGCATTGCCTGTTCTGGAAGATACCATCCATCCTGCAGATCCTGAGCCTGGTGGCCTCTGAAGCCCCACTGCTCTCCTCTGTCCCTTTCACCTTTCACCCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAAAATGAATGAACTTGCAAATTATGTTTCTTTTATTCCTACTGGGGTTGCCACTCTTCCATTGCTGGCATCTTGGCTGATGGGAGG... | TCCTGTGTGTGGCTGTCTTCTCCCCTCAGCAGCTCTGGGAAATTCTCCTGAGGGCAAAGCATTGCCTGTTCTGGAAGATACCATCCATCCTGCAGATCCTGAGCCTGGTGGCCTCTGAAGCCCCACTGCTCTCCTCTGTCCCTTTCACCTTTCACCCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAAAATGAATGAACTTGCAAATTATGTTTCTTTTATTCCTACTGGGGTTGCCACTCTTCCATTGCTGGCATCTTGGCTGATGGGAGG... |
Task1_train_25823 | This variant impacts the gene MC2R (melanocortin 2 receptor) on Chromosome 18. Is the change likely to result in a pathogenic outcome? | Pathogenic; Glucocorticoid deficiency 1 | CTTCTCCCCTCAGCAGCTCTGGGAAATTCTCCTGAGGGCAAAGCATTGCCTGTTCTGGAAGATACCATCCATCCTGCAGATCCTGAGCCTGGTGGCCTCTGAAGCCCCACTGCTCTCCTCTGTCCCTTTCACCTTTCACCCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAAAATGAATGAACTTGCAAATTATGTTTCTTTTATTCCTACTGGGGTTGCCACTCTTCCATTGCTGGCATCTTGGCTGATGGGAGGATGACATTTCCCAGTG... | CTTCTCCCCTCAGCAGCTCTGGGAAATTCTCCTGAGGGCAAAGCATTGCCTGTTCTGGAAGATACCATCCATCCTGCAGATCCTGAGCCTGGTGGCCTCTGAAGCCCCACTGCTCTCCTCTGTCCCTTTCACCTTTCACCCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAAAATGAATGAACTTGCAAATTATGTTTCTTTTATTCCTACTGGGGTTGCCACTCTTCCATTGCTGGCATCTTGGCTGATGGGAGGATGACATTTCCCAGTG... |
Task1_train_25824 | The variant affects gene MC2R (melanocortin 2 receptor), which is on Chromosome 18. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Glucocorticoid deficiency 1 | AGCATTGCCTGTTCTGGAAGATACCATCCATCCTGCAGATCCTGAGCCTGGTGGCCTCTGAAGCCCCACTGCTCTCCTCTGTCCCTTTCACCTTTCACCCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAAAATGAATGAACTTGCAAATTATGTTTCTTTTATTCCTACTGGGGTTGCCACTCTTCCATTGCTGGCATCTTGGCTGATGGGAGGATGACATTTCCCAGTGACTGGGTCTGCTTTCACATTCATCTGCAGAATGAGGTGGTG... | AGCATTGCCTGTTCTGGAAGATACCATCCATCCTGCAGATCCTGAGCCTGGTGGCCTCTGAAGCCCCACTGCTCTCCTCTGTCCCTTTCACCTTTCACCCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAAAATGAATGAACTTGCAAATTATGTTTCTTTTATTCCTACTGGGGTTGCCACTCTTCCATTGCTGGCATCTTGGCTGATGGGAGGATGACATTTCCCAGTGACTGGGTCTGCTTTCACATTCATCTGCAGAATGAGGTGGTG... |
Task1_train_25825 | The variant affects gene MC2R (melanocortin 2 receptor), which is on Chromosome 18. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Glucocorticoid deficiency 1 | CCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAAAATGAATGAACTTGCAAATTATGTTTCTTTTATTCCTACTGGGGTTGCCACTCTTCCATTGCTGGCATCTTGGCTGATGGGAGGATGACATTTCCCAGTGACTGGGTCTGCTTTCACATTCATCTGCAGAATGAGGTGGTGTTTGCCTCCCTCAGGTCTTTGACTTGGGGCTATAATAACAGCACCATTGCTTGATGTCTTGCTTTGGTTTTGGTTTTCCCCATAGTCCAAAAGCATGG... | CCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAAAATGAATGAACTTGCAAATTATGTTTCTTTTATTCCTACTGGGGTTGCCACTCTTCCATTGCTGGCATCTTGGCTGATGGGAGGATGACATTTCCCAGTGACTGGGTCTGCTTTCACATTCATCTGCAGAATGAGGTGGTGTTTGCCTCCCTCAGGTCTTTGACTTGGGGCTATAATAACAGCACCATTGCTTGATGTCTTGCTTTGGTTTTGGTTTTCCCCATAGTCCAAAAGCATGG... |
Task1_train_25826 | A variant on Chromosome 18 in gene GREB1L, LOC101927521 (GREB1 like retinoic acid receptor coactivator| GREB1L antisense RNA 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Renal hypodysplasia/aplasia 3 | CAGGTCAGGCAGTTTTCCATGAAGATGCCATAATCAGACCAGAATGTAGTTTCCACAAAGGCAGGGACTTTGTCTGCTTTGTTCAGTGCTAAAAAACCTGGTGCCTGCCACAGTGTCTAGCACATAATAGAGTACAGTATTTGTTGGATGGATGGTTGGATGGTTGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGGTGGGTGGATAGATGGATGGATGGATAACTTTAGTGACCTAGACAGCCACTGGCAACCTTTTTTTGGCGGGGAGGGGCTACTGCTTTAA... | CAGGTCAGGCAGTTTTCCATGAAGATGCCATAATCAGACCAGAATGTAGTTTCCACAAAGGCAGGGACTTTGTCTGCTTTGTTCAGTGCTAAAAAACCTGGTGCCTGCCACAGTGTCTAGCACATAATAGAGTACAGTATTTGTTGGATGGATGGTTGGATGGTTGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGGTGGGTGGATAGATGGATGGATGGATAACTTTAGTGACCTAGACAGCCACTGGCAACCTTTTTTTGGCGGGGAGGGGCTACTGCTTTAA... |
Task1_train_25827 | Here is a genetic alteration in GREB1L, LOC101927521 (GREB1 like retinoic acid receptor coactivator| GREB1L antisense RNA 1) on Chromosome 18. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | TGGAGTGAGACCCTGTTTCAAAGAAGAAGAAGAAAAAAAGAAAGTATTAATCACTGCTAATTTTAAGTATAGCAATGATATTACAGTTATTTTTAAAAGAGTCTTTTTCTTTTAGAAACTCATACATAAGACCATGTGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAAGCCAAGGTGGAAGGATTGCTTGAGGCCAGGAGTTCGAGACCAGTCTGGACAACATAGCAAGATGCTCTCTCTTAAAAAAAAAATCTTAAAAATTAGCCAGGTGTGGTGGCACACTCCTATAGTCCCAGCTATTTGAGAGGCTGAAG... | TGGAGTGAGACCCTGTTTCAAAGAAGAAGAAGAAAAAAAGAAAGTATTAATCACTGCTAATTTTAAGTATAGCAATGATATTACAGTTATTTTTAAAAGAGTCTTTTTCTTTTAGAAACTCATACATAAGACCATGTGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAAGCCAAGGTGGAAGGATTGCTTGAGGCCAGGAGTTCGAGACCAGTCTGGACAACATAGCAAGATGCTCTCTCTTAAAAAAAAAATCTTAAAAATTAGCCAGGTGTGGTGGCACACTCCTATAGTCCCAGCTATTTGAGAGGCTGAAG... |
Task1_train_25828 | This alteration occurs within gene GREB1L (GREB1 like retinoic acid receptor coactivator) located on Chromosome 18. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | ATCCAAGAAAACAACCTCTTAGATTTCTGGAACTTTGTTTTTCCAGTAAGGGAATGTATGGAATTGACCTGTCAAAGATACACAGTCATCTTTACACTGGACCTTAGCCAAAAAACCACAATCGGTCTTTATTTCATTTGTTTTGAAAGGCAGCAAACTCTTAATTATCAATACAGTATATTTTATCCTCTTTATGAATTATTTATGATCTTTTTAGGATGGCTTAACTCACGCTGCTTATTTCCTAAGGATAGACAGGAAATACAGACTAATTTGCAACTGGTACTACACTCCCTATTTTACAGATAAGGAAACAGACA... | ATCCAAGAAAACAACCTCTTAGATTTCTGGAACTTTGTTTTTCCAGTAAGGGAATGTATGGAATTGACCTGTCAAAGATACACAGTCATCTTTACACTGGACCTTAGCCAAAAAACCACAATCGGTCTTTATTTCATTTGTTTTGAAAGGCAGCAAACTCTTAATTATCAATACAGTATATTTTATCCTCTTTATGAATTATTTATGATCTTTTTAGGATGGCTTAACTCACGCTGCTTATTTCCTAAGGATAGACAGGAAATACAGACTAATTTGCAACTGGTACTACACTCCCTATTTTACAGATAAGGAAACAGACA... |
Task1_train_25829 | A mutation found in GREB1L (GREB1 like retinoic acid receptor coactivator) on Chromosome 18 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hearing loss, autosomal dominant 80 | CACCAGCTGTGTGCCTGCAACTGTCTAGGCACTTTATTTTATTTATTTATTTATTTTTTGAGATAGACTCTTACTCTGTCACACAGGCTGGAGTGCAGTGGCACGATCTCAACTCACTGCAACCTCCGTCTCAGGGGTTCAAGTGATTCTTAGCCTCCTGAGTAGCTGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTGGTATTTTTGGTAGAGACAGGGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCCCAAAATGCTGAGATTACAGGTGTGAGCCACCATGTCCA... | CACCAGCTGTGTGCCTGCAACTGTCTAGGCACTTTATTTTATTTATTTATTTATTTTTTGAGATAGACTCTTACTCTGTCACACAGGCTGGAGTGCAGTGGCACGATCTCAACTCACTGCAACCTCCGTCTCAGGGGTTCAAGTGATTCTTAGCCTCCTGAGTAGCTGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTGGTATTTTTGGTAGAGACAGGGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCCCAAAATGCTGAGATTACAGGTGTGAGCCACCATGTCCA... |
Task1_train_25830 | A change on Chromosome 18 affects gene GREB1L (GREB1 like retinoic acid receptor coactivator). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Inner ear malformation | CACCAGCTGTGTGCCTGCAACTGTCTAGGCACTTTATTTTATTTATTTATTTATTTTTTGAGATAGACTCTTACTCTGTCACACAGGCTGGAGTGCAGTGGCACGATCTCAACTCACTGCAACCTCCGTCTCAGGGGTTCAAGTGATTCTTAGCCTCCTGAGTAGCTGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTGGTATTTTTGGTAGAGACAGGGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCCCAAAATGCTGAGATTACAGGTGTGAGCCACCATGTCCA... | CACCAGCTGTGTGCCTGCAACTGTCTAGGCACTTTATTTTATTTATTTATTTATTTTTTGAGATAGACTCTTACTCTGTCACACAGGCTGGAGTGCAGTGGCACGATCTCAACTCACTGCAACCTCCGTCTCAGGGGTTCAAGTGATTCTTAGCCTCCTGAGTAGCTGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTGGTATTTTTGGTAGAGACAGGGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCCCAAAATGCTGAGATTACAGGTGTGAGCCACCATGTCCA... |
Task1_train_25831 | The gene GREB1L (GREB1 like retinoic acid receptor coactivator) on Chromosome 18 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Renal hypodysplasia/aplasia 3 | GCATGAAGCCATAATTAAATGAATGTTGGGTTTATTTGGATTATGGGAGGGAGAGGAGGCAGCTTAGTTTTAGTGTCTTGAATTACTTCTTCAAATGGTTACACGTGTCATGTTTAGGTTAGGAAGTAGCTGAGGTGTTTATTTGCAATCCATATATTACAGTATATTTGATAAAAGGGTTTCCCCCTCTTCCCTTTGGAGCACTGACTAAAATGGCACTATTATCTCAGATCCACAGGGTGTGCCCTTTGAGCTGTGATTCTAACAAGACTGTTGATTTGCACCAACCTAGTCATATTCTCACACCTGCGTGGGGTGGC... | GCATGAAGCCATAATTAAATGAATGTTGGGTTTATTTGGATTATGGGAGGGAGAGGAGGCAGCTTAGTTTTAGTGTCTTGAATTACTTCTTCAAATGGTTACACGTGTCATGTTTAGGTTAGGAAGTAGCTGAGGTGTTTATTTGCAATCCATATATTACAGTATATTTGATAAAAGGGTTTCCCCCTCTTCCCTTTGGAGCACTGACTAAAATGGCACTATTATCTCAGATCCACAGGGTGTGCCCTTTGAGCTGTGATTCTAACAAGACTGTTGATTTGCACCAACCTAGTCATATTCTCACACCTGCGTGGGGTGGC... |
Task1_train_25832 | With a mutation on Chromosome 18 in gene GREB1L (GREB1 like retinoic acid receptor coactivator), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Renal hypodysplasia/aplasia 3 | AATGGTTACACGTGTCATGTTTAGGTTAGGAAGTAGCTGAGGTGTTTATTTGCAATCCATATATTACAGTATATTTGATAAAAGGGTTTCCCCCTCTTCCCTTTGGAGCACTGACTAAAATGGCACTATTATCTCAGATCCACAGGGTGTGCCCTTTGAGCTGTGATTCTAACAAGACTGTTGATTTGCACCAACCTAGTCATATTCTCACACCTGCGTGGGGTGGCTTGGCCAGTGGAGTCAGTTTGTTTTATGCAGTGAGAACTGAGACATAGGAATGAAGAACATGGGCCAATAACCCTTAGTATGTGGCTTCTTTT... | AATGGTTACACGTGTCATGTTTAGGTTAGGAAGTAGCTGAGGTGTTTATTTGCAATCCATATATTACAGTATATTTGATAAAAGGGTTTCCCCCTCTTCCCTTTGGAGCACTGACTAAAATGGCACTATTATCTCAGATCCACAGGGTGTGCCCTTTGAGCTGTGATTCTAACAAGACTGTTGATTTGCACCAACCTAGTCATATTCTCACACCTGCGTGGGGTGGCTTGGCCAGTGGAGTCAGTTTGTTTTATGCAGTGAGAACTGAGACATAGGAATGAAGAACATGGGCCAATAACCCTTAGTATGTGGCTTCTTTT... |
Task1_train_25833 | Given this context: Chromosome 18, gene GREB1L (GREB1 like retinoic acid receptor coactivator) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | AAAAGGCAGCAGATGGGGATGAGCAGGGTAGCCATGGCCTTGCCTCCCAAATAAATTATGTCCAGGTTCCTACAAAACCTGAGAGGGCCAAGCAAGAAGGCAGGAACCATAAAGTCCTTATGCCAAACTTACGGTTATAGAATAGCTGCTGCTTTCACTCCTGTTTTAAATTTGACAGAGGCTTCATCCTGCTTGTAGCCAGAAATTTAAAACTGGGAGCACCTCTGCATTCCTGTTTTGCCGGAGTGTATCAAATAGGAATATAGTCCTGTTTTTGCATAGGGATACCTAAAACCTGTGACATAGCTGGGACAAAAATA... | AAAAGGCAGCAGATGGGGATGAGCAGGGTAGCCATGGCCTTGCCTCCCAAATAAATTATGTCCAGGTTCCTACAAAACCTGAGAGGGCCAAGCAAGAAGGCAGGAACCATAAAGTCCTTATGCCAAACTTACGGTTATAGAATAGCTGCTGCTTTCACTCCTGTTTTAAATTTGACAGAGGCTTCATCCTGCTTGTAGCCAGAAATTTAAAACTGGGAGCACCTCTGCATTCCTGTTTTGCCGGAGTGTATCAAATAGGAATATAGTCCTGTTTTTGCATAGGGATACCTAAAACCTGTGACATAGCTGGGACAAAAATA... |
Task1_train_25834 | This genomic variant is located on Chromosome 18, within the GATA6 (GATA binding protein 6) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | TGAGGACTGGCTTCACTTATGATCTGCAGTTGACAGTCATAAAGTCCTTTGTTATAATGGCAAATTCTGATAACAAGTTTGCTTCACATTGGCTCCAAATTCCACTGGAAACTGTCATAAATGGCTGGTTTATAAAGTGAACCTTCCTGTCCCTTGTTTACTGATTTCACATTTATGAAGAGAAAGGAATCCTTTCCTAAAAAATTATTTTCTTTTAACCACAAAGAAAGAAAAAAGAAAAGCCTGGATGTGTAAAGTTTTGTTAATATGTTGTCATCATTTTAGCAAAGCAGTTTCCCAGGTAGCTCTCCTGTGAGCCA... | TGAGGACTGGCTTCACTTATGATCTGCAGTTGACAGTCATAAAGTCCTTTGTTATAATGGCAAATTCTGATAACAAGTTTGCTTCACATTGGCTCCAAATTCCACTGGAAACTGTCATAAATGGCTGGTTTATAAAGTGAACCTTCCTGTCCCTTGTTTACTGATTTCACATTTATGAAGAGAAAGGAATCCTTTCCTAAAAAATTATTTTCTTTTAACCACAAAGAAAGAAAAAAGAAAAGCCTGGATGTGTAAAGTTTTGTTAATATGTTGTCATCATTTTAGCAAAGCAGTTTCCCAGGTAGCTCTCCTGTGAGCCA... |
Task1_train_25835 | The variant affects gene GATA6 (GATA binding protein 6), which is on Chromosome 18. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Abnormal cardiovascular system morphology | TCACTTATGATCTGCAGTTGACAGTCATAAAGTCCTTTGTTATAATGGCAAATTCTGATAACAAGTTTGCTTCACATTGGCTCCAAATTCCACTGGAAACTGTCATAAATGGCTGGTTTATAAAGTGAACCTTCCTGTCCCTTGTTTACTGATTTCACATTTATGAAGAGAAAGGAATCCTTTCCTAAAAAATTATTTTCTTTTAACCACAAAGAAAGAAAAAAGAAAAGCCTGGATGTGTAAAGTTTTGTTAATATGTTGTCATCATTTTAGCAAAGCAGTTTCCCAGGTAGCTCTCCTGTGAGCCAAGCATACTCATT... | TCACTTATGATCTGCAGTTGACAGTCATAAAGTCCTTTGTTATAATGGCAAATTCTGATAACAAGTTTGCTTCACATTGGCTCCAAATTCCACTGGAAACTGTCATAAATGGCTGGTTTATAAAGTGAACCTTCCTGTCCCTTGTTTACTGATTTCACATTTATGAAGAGAAAGGAATCCTTTCCTAAAAAATTATTTTCTTTTAACCACAAAGAAAGAAAAAAGAAAAGCCTGGATGTGTAAAGTTTTGTTAATATGTTGTCATCATTTTAGCAAAGCAGTTTCCCAGGTAGCTCTCCTGTGAGCCAAGCATACTCATT... |
Task1_train_25836 | Assess the clinical impact of this variant on gene GATA6 (GATA binding protein 6), found on Chromosome 18. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital diaphragmatic hernia | TCACTTATGATCTGCAGTTGACAGTCATAAAGTCCTTTGTTATAATGGCAAATTCTGATAACAAGTTTGCTTCACATTGGCTCCAAATTCCACTGGAAACTGTCATAAATGGCTGGTTTATAAAGTGAACCTTCCTGTCCCTTGTTTACTGATTTCACATTTATGAAGAGAAAGGAATCCTTTCCTAAAAAATTATTTTCTTTTAACCACAAAGAAAGAAAAAAGAAAAGCCTGGATGTGTAAAGTTTTGTTAATATGTTGTCATCATTTTAGCAAAGCAGTTTCCCAGGTAGCTCTCCTGTGAGCCAAGCATACTCATT... | TCACTTATGATCTGCAGTTGACAGTCATAAAGTCCTTTGTTATAATGGCAAATTCTGATAACAAGTTTGCTTCACATTGGCTCCAAATTCCACTGGAAACTGTCATAAATGGCTGGTTTATAAAGTGAACCTTCCTGTCCCTTGTTTACTGATTTCACATTTATGAAGAGAAAGGAATCCTTTCCTAAAAAATTATTTTCTTTTAACCACAAAGAAAGAAAAAAGAAAAGCCTGGATGTGTAAAGTTTTGTTAATATGTTGTCATCATTTTAGCAAAGCAGTTTCCCAGGTAGCTCTCCTGTGAGCCAAGCATACTCATT... |
Task1_train_25837 | This is a variant in GATA6 (GATA binding protein 6), located on Chromosome 18. Is this mutation a likely cause of disease or not? | Pathogenic; Inborn genetic diseases | TCACTTATGATCTGCAGTTGACAGTCATAAAGTCCTTTGTTATAATGGCAAATTCTGATAACAAGTTTGCTTCACATTGGCTCCAAATTCCACTGGAAACTGTCATAAATGGCTGGTTTATAAAGTGAACCTTCCTGTCCCTTGTTTACTGATTTCACATTTATGAAGAGAAAGGAATCCTTTCCTAAAAAATTATTTTCTTTTAACCACAAAGAAAGAAAAAAGAAAAGCCTGGATGTGTAAAGTTTTGTTAATATGTTGTCATCATTTTAGCAAAGCAGTTTCCCAGGTAGCTCTCCTGTGAGCCAAGCATACTCATT... | TCACTTATGATCTGCAGTTGACAGTCATAAAGTCCTTTGTTATAATGGCAAATTCTGATAACAAGTTTGCTTCACATTGGCTCCAAATTCCACTGGAAACTGTCATAAATGGCTGGTTTATAAAGTGAACCTTCCTGTCCCTTGTTTACTGATTTCACATTTATGAAGAGAAAGGAATCCTTTCCTAAAAAATTATTTTCTTTTAACCACAAAGAAAGAAAAAAGAAAAGCCTGGATGTGTAAAGTTTTGTTAATATGTTGTCATCATTTTAGCAAAGCAGTTTCCCAGGTAGCTCTCCTGTGAGCCAAGCATACTCATT... |
Task1_train_25838 | A genomic change on Chromosome 18 affects GATA6 (GATA binding protein 6). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | TCACTTATGATCTGCAGTTGACAGTCATAAAGTCCTTTGTTATAATGGCAAATTCTGATAACAAGTTTGCTTCACATTGGCTCCAAATTCCACTGGAAACTGTCATAAATGGCTGGTTTATAAAGTGAACCTTCCTGTCCCTTGTTTACTGATTTCACATTTATGAAGAGAAAGGAATCCTTTCCTAAAAAATTATTTTCTTTTAACCACAAAGAAAGAAAAAAGAAAAGCCTGGATGTGTAAAGTTTTGTTAATATGTTGTCATCATTTTAGCAAAGCAGTTTCCCAGGTAGCTCTCCTGTGAGCCAAGCATACTCATT... | TCACTTATGATCTGCAGTTGACAGTCATAAAGTCCTTTGTTATAATGGCAAATTCTGATAACAAGTTTGCTTCACATTGGCTCCAAATTCCACTGGAAACTGTCATAAATGGCTGGTTTATAAAGTGAACCTTCCTGTCCCTTGTTTACTGATTTCACATTTATGAAGAGAAAGGAATCCTTTCCTAAAAAATTATTTTCTTTTAACCACAAAGAAAGAAAAAAGAAAAGCCTGGATGTGTAAAGTTTTGTTAATATGTTGTCATCATTTTAGCAAAGCAGTTTCCCAGGTAGCTCTCCTGTGAGCCAAGCATACTCATT... |
Task1_train_25839 | This mutation is located in gene GATA6 (GATA binding protein 6) on Chromosome 18. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | CACTTATGATCTGCAGTTGACAGTCATAAAGTCCTTTGTTATAATGGCAAATTCTGATAACAAGTTTGCTTCACATTGGCTCCAAATTCCACTGGAAACTGTCATAAATGGCTGGTTTATAAAGTGAACCTTCCTGTCCCTTGTTTACTGATTTCACATTTATGAAGAGAAAGGAATCCTTTCCTAAAAAATTATTTTCTTTTAACCACAAAGAAAGAAAAAAGAAAAGCCTGGATGTGTAAAGTTTTGTTAATATGTTGTCATCATTTTAGCAAAGCAGTTTCCCAGGTAGCTCTCCTGTGAGCCAAGCATACTCATTT... | CACTTATGATCTGCAGTTGACAGTCATAAAGTCCTTTGTTATAATGGCAAATTCTGATAACAAGTTTGCTTCACATTGGCTCCAAATTCCACTGGAAACTGTCATAAATGGCTGGTTTATAAAGTGAACCTTCCTGTCCCTTGTTTACTGATTTCACATTTATGAAGAGAAAGGAATCCTTTCCTAAAAAATTATTTTCTTTTAACCACAAAGAAAGAAAAAAGAAAAGCCTGGATGTGTAAAGTTTTGTTAATATGTTGTCATCATTTTAGCAAAGCAGTTTCCCAGGTAGCTCTCCTGTGAGCCAAGCATACTCATTT... |
Task1_train_25840 | A variant was discovered in gene GATA6 (GATA binding protein 6), Chromosome 18. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Persistent truncus arteriosus | AGTCCTTTGTTATAATGGCAAATTCTGATAACAAGTTTGCTTCACATTGGCTCCAAATTCCACTGGAAACTGTCATAAATGGCTGGTTTATAAAGTGAACCTTCCTGTCCCTTGTTTACTGATTTCACATTTATGAAGAGAAAGGAATCCTTTCCTAAAAAATTATTTTCTTTTAACCACAAAGAAAGAAAAAAGAAAAGCCTGGATGTGTAAAGTTTTGTTAATATGTTGTCATCATTTTAGCAAAGCAGTTTCCCAGGTAGCTCTCCTGTGAGCCAAGCATACTCATTTCAACTAAAGGCAAATTGATTCTTAGCACT... | AGTCCTTTGTTATAATGGCAAATTCTGATAACAAGTTTGCTTCACATTGGCTCCAAATTCCACTGGAAACTGTCATAAATGGCTGGTTTATAAAGTGAACCTTCCTGTCCCTTGTTTACTGATTTCACATTTATGAAGAGAAAGGAATCCTTTCCTAAAAAATTATTTTCTTTTAACCACAAAGAAAGAAAAAAGAAAAGCCTGGATGTGTAAAGTTTTGTTAATATGTTGTCATCATTTTAGCAAAGCAGTTTCCCAGGTAGCTCTCCTGTGAGCCAAGCATACTCATTTCAACTAAAGGCAAATTGATTCTTAGCACT... |
Task1_train_25841 | This alteration occurs within gene GATA6 (GATA binding protein 6) located on Chromosome 18. Is it associated with a disease or is it a benign variant? | Pathogenic; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | AGTCCTTTGTTATAATGGCAAATTCTGATAACAAGTTTGCTTCACATTGGCTCCAAATTCCACTGGAAACTGTCATAAATGGCTGGTTTATAAAGTGAACCTTCCTGTCCCTTGTTTACTGATTTCACATTTATGAAGAGAAAGGAATCCTTTCCTAAAAAATTATTTTCTTTTAACCACAAAGAAAGAAAAAAGAAAAGCCTGGATGTGTAAAGTTTTGTTAATATGTTGTCATCATTTTAGCAAAGCAGTTTCCCAGGTAGCTCTCCTGTGAGCCAAGCATACTCATTTCAACTAAAGGCAAATTGATTCTTAGCACT... | AGTCCTTTGTTATAATGGCAAATTCTGATAACAAGTTTGCTTCACATTGGCTCCAAATTCCACTGGAAACTGTCATAAATGGCTGGTTTATAAAGTGAACCTTCCTGTCCCTTGTTTACTGATTTCACATTTATGAAGAGAAAGGAATCCTTTCCTAAAAAATTATTTTCTTTTAACCACAAAGAAAGAAAAAAGAAAAGCCTGGATGTGTAAAGTTTTGTTAATATGTTGTCATCATTTTAGCAAAGCAGTTTCCCAGGTAGCTCTCCTGTGAGCCAAGCATACTCATTTCAACTAAAGGCAAATTGATTCTTAGCACT... |
Task1_train_25842 | Gene GATA6 (GATA binding protein 6) on Chromosome 18 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | CCTTTGTTATAATGGCAAATTCTGATAACAAGTTTGCTTCACATTGGCTCCAAATTCCACTGGAAACTGTCATAAATGGCTGGTTTATAAAGTGAACCTTCCTGTCCCTTGTTTACTGATTTCACATTTATGAAGAGAAAGGAATCCTTTCCTAAAAAATTATTTTCTTTTAACCACAAAGAAAGAAAAAAGAAAAGCCTGGATGTGTAAAGTTTTGTTAATATGTTGTCATCATTTTAGCAAAGCAGTTTCCCAGGTAGCTCTCCTGTGAGCCAAGCATACTCATTTCAACTAAAGGCAAATTGATTCTTAGCACTGAC... | CCTTTGTTATAATGGCAAATTCTGATAACAAGTTTGCTTCACATTGGCTCCAAATTCCACTGGAAACTGTCATAAATGGCTGGTTTATAAAGTGAACCTTCCTGTCCCTTGTTTACTGATTTCACATTTATGAAGAGAAAGGAATCCTTTCCTAAAAAATTATTTTCTTTTAACCACAAAGAAAGAAAAAAGAAAAGCCTGGATGTGTAAAGTTTTGTTAATATGTTGTCATCATTTTAGCAAAGCAGTTTCCCAGGTAGCTCTCCTGTGAGCCAAGCATACTCATTTCAACTAAAGGCAAATTGATTCTTAGCACTGAC... |
Task1_train_25843 | Chromosome 18 houses a mutation in gene NPC1 (NPC intracellular cholesterol transporter 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Niemann-Pick disease, type C1, juvenile form | TAAGGACAGGTTAGATAGAATCTCTTCCATTTAGCTTTTGTATTTGTCTCTCAAAGCAGATAGGGTAACCCCAAAACTTAGGAAAACAATGTATTTTATTAAAGAAAAATAAGTTAAAACCCAGTAGACACACCTACGAGATGCTTTCTTTGTCCCTCATTTCATGCCACATCTAACTGGCAATTAAATCTCTTCCTTTCTAGGGGAACACTGTGAAGAACATGTTGCTTTTTTCAAACAGATTTTTGGAGACCAAGCTCTAATGAGGCCTACAACATTCTGAAATCACTTGCTGTTTTTTTATATAAAAATGTGTACAA... | TAAGGACAGGTTAGATAGAATCTCTTCCATTTAGCTTTTGTATTTGTCTCTCAAAGCAGATAGGGTAACCCCAAAACTTAGGAAAACAATGTATTTTATTAAAGAAAAATAAGTTAAAACCCAGTAGACACACCTACGAGATGCTTTCTTTGTCCCTCATTTCATGCCACATCTAACTGGCAATTAAATCTCTTCCTTTCTAGGGGAACACTGTGAAGAACATGTTGCTTTTTTCAAACAGATTTTTGGAGACCAAGCTCTAATGAGGCCTACAACATTCTGAAATCACTTGCTGTTTTTTTATATAAAAATGTGTACAA... |
Task1_train_25844 | Assess the clinical impact of this variant on gene NPC1 (NPC intracellular cholesterol transporter 1), found on Chromosome 18. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Niemann-Pick disease, type C | GAAGTAGAATATCTGGAAAATTTGAGATTTGGCAAAAGCCAACACCACAATCCCTCCAAATTTTGTAAGTGTGATTCCACTGAACACCTAAAAGAAGAGATACTGTGTTAGAAACCACTTTTACCAACCTGTAATTGAACAAAAACACTTCCTTACAAGGATTTCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGC... | GAAGTAGAATATCTGGAAAATTTGAGATTTGGCAAAAGCCAACACCACAATCCCTCCAAATTTTGTAAGTGTGATTCCACTGAACACCTAAAAGAAGAGATACTGTGTTAGAAACCACTTTTACCAACCTGTAATTGAACAAAAACACTTCCTTACAAGGATTTCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGC... |
Task1_train_25845 | A variant was discovered on Chromosome 18, affecting NPC1 (NPC intracellular cholesterol transporter 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Niemann-Pick disease, type C1 | GAAGTAGAATATCTGGAAAATTTGAGATTTGGCAAAAGCCAACACCACAATCCCTCCAAATTTTGTAAGTGTGATTCCACTGAACACCTAAAAGAAGAGATACTGTGTTAGAAACCACTTTTACCAACCTGTAATTGAACAAAAACACTTCCTTACAAGGATTTCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGC... | GAAGTAGAATATCTGGAAAATTTGAGATTTGGCAAAAGCCAACACCACAATCCCTCCAAATTTTGTAAGTGTGATTCCACTGAACACCTAAAAGAAGAGATACTGTGTTAGAAACCACTTTTACCAACCTGTAATTGAACAAAAACACTTCCTTACAAGGATTTCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGC... |
Task1_train_25846 | Given this variant in gene NPC1 (NPC intracellular cholesterol transporter 1) on Chromosome 18, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Niemann-Pick disease, type C | CACAATCCCTCCAAATTTTGTAAGTGTGATTCCACTGAACACCTAAAAGAAGAGATACTGTGTTAGAAACCACTTTTACCAACCTGTAATTGAACAAAAACACTTCCTTACAAGGATTTCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGCCAGCCTTGGCCTCCCAAAGTGCTGGGGTTATAGGCATGAGCCACC... | CACAATCCCTCCAAATTTTGTAAGTGTGATTCCACTGAACACCTAAAAGAAGAGATACTGTGTTAGAAACCACTTTTACCAACCTGTAATTGAACAAAAACACTTCCTTACAAGGATTTCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGCCAGCCTTGGCCTCCCAAAGTGCTGGGGTTATAGGCATGAGCCACC... |
Task1_train_25847 | The gene NPC1 (NPC intracellular cholesterol transporter 1) is located on Chromosome 18, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Niemann-Pick disease, type C1 | CACAATCCCTCCAAATTTTGTAAGTGTGATTCCACTGAACACCTAAAAGAAGAGATACTGTGTTAGAAACCACTTTTACCAACCTGTAATTGAACAAAAACACTTCCTTACAAGGATTTCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGCCAGCCTTGGCCTCCCAAAGTGCTGGGGTTATAGGCATGAGCCACC... | CACAATCCCTCCAAATTTTGTAAGTGTGATTCCACTGAACACCTAAAAGAAGAGATACTGTGTTAGAAACCACTTTTACCAACCTGTAATTGAACAAAAACACTTCCTTACAAGGATTTCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGCCAGCCTTGGCCTCCCAAAGTGCTGGGGTTATAGGCATGAGCCACC... |
Task1_train_25848 | A mutation found in NPC1 (NPC intracellular cholesterol transporter 1) on Chromosome 18 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Niemann-Pick disease, type C | GGACTTACAAGGCCTCCATCACACCAATCTTACTGTACCAGGAACTTTTTGGGGCCCTCTCTACACACAGCCAAAAGCCTGGTTTTCTGTGGCACGTTTGTGTTGACCAGGAGAAATTGCTGGAACCCGTTAAGGTCACCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAA... | GGACTTACAAGGCCTCCATCACACCAATCTTACTGTACCAGGAACTTTTTGGGGCCCTCTCTACACACAGCCAAAAGCCTGGTTTTCTGTGGCACGTTTGTGTTGACCAGGAGAAATTGCTGGAACCCGTTAAGGTCACCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAA... |
Task1_train_25849 | A genomic change on Chromosome 18 affects NPC1 (NPC intracellular cholesterol transporter 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Niemann-Pick disease, type C1 | GGACTTACAAGGCCTCCATCACACCAATCTTACTGTACCAGGAACTTTTTGGGGCCCTCTCTACACACAGCCAAAAGCCTGGTTTTCTGTGGCACGTTTGTGTTGACCAGGAGAAATTGCTGGAACCCGTTAAGGTCACCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAA... | GGACTTACAAGGCCTCCATCACACCAATCTTACTGTACCAGGAACTTTTTGGGGCCCTCTCTACACACAGCCAAAAGCCTGGTTTTCTGTGGCACGTTTGTGTTGACCAGGAGAAATTGCTGGAACCCGTTAAGGTCACCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAA... |
Task1_train_25850 | Here is a mutation in NPC1 (NPC intracellular cholesterol transporter 1) on Chromosome 18. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Sphingomyelin/cholesterol lipidosis | GGACTTACAAGGCCTCCATCACACCAATCTTACTGTACCAGGAACTTTTTGGGGCCCTCTCTACACACAGCCAAAAGCCTGGTTTTCTGTGGCACGTTTGTGTTGACCAGGAGAAATTGCTGGAACCCGTTAAGGTCACCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAA... | GGACTTACAAGGCCTCCATCACACCAATCTTACTGTACCAGGAACTTTTTGGGGCCCTCTCTACACACAGCCAAAAGCCTGGTTTTCTGTGGCACGTTTGTGTTGACCAGGAGAAATTGCTGGAACCCGTTAAGGTCACCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAA... |
Task1_train_25851 | The gene NPC1 (NPC intracellular cholesterol transporter 1) is located on Chromosome 18, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Inborn genetic diseases | GGACTTACAAGGCCTCCATCACACCAATCTTACTGTACCAGGAACTTTTTGGGGCCCTCTCTACACACAGCCAAAAGCCTGGTTTTCTGTGGCACGTTTGTGTTGACCAGGAGAAATTGCTGGAACCCGTTAAGGTCACCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAA... | GGACTTACAAGGCCTCCATCACACCAATCTTACTGTACCAGGAACTTTTTGGGGCCCTCTCTACACACAGCCAAAAGCCTGGTTTTCTGTGGCACGTTTGTGTTGACCAGGAGAAATTGCTGGAACCCGTTAAGGTCACCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAA... |
Task1_train_25852 | This genomic variant is located on Chromosome 18, within the NPC1 (NPC intracellular cholesterol transporter 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Niemann-Pick disease, type C | ACCAATCTTACTGTACCAGGAACTTTTTGGGGCCCTCTCTACACACAGCCAAAAGCCTGGTTTTCTGTGGCACGTTTGTGTTGACCAGGAGAAATTGCTGGAACCCGTTAAGGTCACCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAAGGCACTGGTCGGAGAGCTCCTG... | ACCAATCTTACTGTACCAGGAACTTTTTGGGGCCCTCTCTACACACAGCCAAAAGCCTGGTTTTCTGTGGCACGTTTGTGTTGACCAGGAGAAATTGCTGGAACCCGTTAAGGTCACCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAAGGCACTGGTCGGAGAGCTCCTG... |
Task1_train_25853 | The following genetic variant occurs in NPC1 (NPC intracellular cholesterol transporter 1) on Chromosome 18. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Niemann-Pick disease, type C1 | ACCAATCTTACTGTACCAGGAACTTTTTGGGGCCCTCTCTACACACAGCCAAAAGCCTGGTTTTCTGTGGCACGTTTGTGTTGACCAGGAGAAATTGCTGGAACCCGTTAAGGTCACCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAAGGCACTGGTCGGAGAGCTCCTG... | ACCAATCTTACTGTACCAGGAACTTTTTGGGGCCCTCTCTACACACAGCCAAAAGCCTGGTTTTCTGTGGCACGTTTGTGTTGACCAGGAGAAATTGCTGGAACCCGTTAAGGTCACCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAAGGCACTGGTCGGAGAGCTCCTG... |
Task1_train_25854 | Consider this mutation in NPC1 (NPC intracellular cholesterol transporter 1) on Chromosome 18. Is this a benign change or a disease-causing variant? | Pathogenic; Niemann-Pick disease, type C1 | CCTCTCTACACACAGCCAAAAGCCTGGTTTTCTGTGGCACGTTTGTGTTGACCAGGAGAAATTGCTGGAACCCGTTAAGGTCACCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAAGGCACTGGTCGGAGAGCTCCTGGGGCGGGGTGCAATTTTCTAAGTAAAAAGTGAA... | CCTCTCTACACACAGCCAAAAGCCTGGTTTTCTGTGGCACGTTTGTGTTGACCAGGAGAAATTGCTGGAACCCGTTAAGGTCACCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAAGGCACTGGTCGGAGAGCTCCTGGGGCGGGGTGCAATTTTCTAAGTAAAAAGTGAA... |
Task1_train_25855 | This variant affects the gene NPC1 (NPC intracellular cholesterol transporter 1) found on Chromosome 18. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Niemann-Pick disease, type C1 | AATTGCTGGAACCCGTTAAGGTCACCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAAGGCACTGGTCGGAGAGCTCCTGGGGCGGGGTGCAATTTTCTAAGTAAAAAGTGAACATCCTGCTGTCATCAGGCTACAGGCTTGTGCAATCTCTAAAGAATAACAAATTACAGG... | AATTGCTGGAACCCGTTAAGGTCACCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAAGGCACTGGTCGGAGAGCTCCTGGGGCGGGGTGCAATTTTCTAAGTAAAAAGTGAACATCCTGCTGTCATCAGGCTACAGGCTTGTGCAATCTCTAAAGAATAACAAATTACAGG... |
Task1_train_25856 | Here’s a variant in NPC1 (NPC intracellular cholesterol transporter 1) located on Chromosome 18. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Niemann-Pick disease, type C1 | CCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAAGGCACTGGTCGGAGAGCTCCTGGGGCGGGGTGCAATTTTCTAAGTAAAAAGTGAACATCCTGCTGTCATCAGGCTACAGGCTTGTGCAATCTCTAAAGAATAACAAATTACAGGCAGACTAGCCCAGAACTAGGCCAG... | CCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAAGGCACTGGTCGGAGAGCTCCTGGGGCGGGGTGCAATTTTCTAAGTAAAAAGTGAACATCCTGCTGTCATCAGGCTACAGGCTTGTGCAATCTCTAAAGAATAACAAATTACAGGCAGACTAGCCCAGAACTAGGCCAG... |
Task1_train_25857 | This sequence variant lies in NPC1 (NPC intracellular cholesterol transporter 1) on Chromosome 18. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Niemann-Pick disease, type C1 | CAGCACCCATTTCCTTTGATATACTGCCCTGTGCTCAGAATGGAGCAGGGGCCAGAACCCAACCTGAAAATCAGCATCTTGCCAAGGGAACCCTCCCCACTCCCACCCAGTGTAGGCCCTTTGCTGGGTAAACCCCATTGAAAAAGGGCAGGCTTTACCTGTAAGGAAATACTCGGTAGGCACTGCCGTTAATGCCCATGGTTTCGGTGACATTACTGGCTATAAGTCGGGCTTTCTTCAGAGCGTCAATAAAGTCAGCAGAGGTCTGCAGCACGGTGTGGTAGGTCATGAAGTACGTGGCTCCGACCCTGGTGCCATGG... | CAGCACCCATTTCCTTTGATATACTGCCCTGTGCTCAGAATGGAGCAGGGGCCAGAACCCAACCTGAAAATCAGCATCTTGCCAAGGGAACCCTCCCCACTCCCACCCAGTGTAGGCCCTTTGCTGGGTAAACCCCATTGAAAAAGGGCAGGCTTTACCTGTAAGGAAATACTCGGTAGGCACTGCCGTTAATGCCCATGGTTTCGGTGACATTACTGGCTATAAGTCGGGCTTTCTTCAGAGCGTCAATAAAGTCAGCAGAGGTCTGCAGCACGGTGTGGTAGGTCATGAAGTACGTGGCTCCGACCCTGGTGCCATGG... |
Task1_train_25858 | A mutation in NPC1 (NPC intracellular cholesterol transporter 1), located on Chromosome 18, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Niemann-Pick disease, type C1 | TATACTGCCCTGTGCTCAGAATGGAGCAGGGGCCAGAACCCAACCTGAAAATCAGCATCTTGCCAAGGGAACCCTCCCCACTCCCACCCAGTGTAGGCCCTTTGCTGGGTAAACCCCATTGAAAAAGGGCAGGCTTTACCTGTAAGGAAATACTCGGTAGGCACTGCCGTTAATGCCCATGGTTTCGGTGACATTACTGGCTATAAGTCGGGCTTTCTTCAGAGCGTCAATAAAGTCAGCAGAGGTCTGCAGCACGGTGTGGTAGGTCATGAAGTACGTGGCTCCGACCCTGGTGCCATGGCCAAGGAGGATGTTAACTG... | TATACTGCCCTGTGCTCAGAATGGAGCAGGGGCCAGAACCCAACCTGAAAATCAGCATCTTGCCAAGGGAACCCTCCCCACTCCCACCCAGTGTAGGCCCTTTGCTGGGTAAACCCCATTGAAAAAGGGCAGGCTTTACCTGTAAGGAAATACTCGGTAGGCACTGCCGTTAATGCCCATGGTTTCGGTGACATTACTGGCTATAAGTCGGGCTTTCTTCAGAGCGTCAATAAAGTCAGCAGAGGTCTGCAGCACGGTGTGGTAGGTCATGAAGTACGTGGCTCCGACCCTGGTGCCATGGCCAAGGAGGATGTTAACTG... |
Task1_train_25859 | A variant has been detected on Chromosome 18 in NPC1 (NPC intracellular cholesterol transporter 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Niemann-Pick disease, type C1 | GTGAGCCACTTCGCCTGGCCAGATGGGCTTTTCTCGATTGCTCTGGGTTCTTTGGTACATAGCTGCTGTTTCTCCACCTGGTTTCATGTATAATCAAAGGTACAGGGTTTACTCAGTCCTGTTGTGTAATAGGAAGCAGGAAAGGGCAAGGGCCCTGGGAACAACCTCAGCCCTGCCACTTACTGGTCATGTAACCCCGAGCAAAATGACCACCTCTGAGCCCCAGTCTCCTCTTCTGTAAATGGGTATACCACCACCTACTCATAGGCTGCGTGATGAGAAATGGAATAATGTCAGGGAGTGCCTGGCATGACGCTGGC... | GTGAGCCACTTCGCCTGGCCAGATGGGCTTTTCTCGATTGCTCTGGGTTCTTTGGTACATAGCTGCTGTTTCTCCACCTGGTTTCATGTATAATCAAAGGTACAGGGTTTACTCAGTCCTGTTGTGTAATAGGAAGCAGGAAAGGGCAAGGGCCCTGGGAACAACCTCAGCCCTGCCACTTACTGGTCATGTAACCCCGAGCAAAATGACCACCTCTGAGCCCCAGTCTCCTCTTCTGTAAATGGGTATACCACCACCTACTCATAGGCTGCGTGATGAGAAATGGAATAATGTCAGGGAGTGCCTGGCATGACGCTGGC... |
Task1_train_25860 | A variant on Chromosome 18 in gene NPC1 (NPC intracellular cholesterol transporter 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Niemann-Pick disease, type C | GTGAGCCACTTCGCCTGGCCAGATGGGCTTTTCTCGATTGCTCTGGGTTCTTTGGTACATAGCTGCTGTTTCTCCACCTGGTTTCATGTATAATCAAAGGTACAGGGTTTACTCAGTCCTGTTGTGTAATAGGAAGCAGGAAAGGGCAAGGGCCCTGGGAACAACCTCAGCCCTGCCACTTACTGGTCATGTAACCCCGAGCAAAATGACCACCTCTGAGCCCCAGTCTCCTCTTCTGTAAATGGGTATACCACCACCTACTCATAGGCTGCGTGATGAGAAATGGAATAATGTCAGGGAGTGCCTGGCATGACGCTGGC... | GTGAGCCACTTCGCCTGGCCAGATGGGCTTTTCTCGATTGCTCTGGGTTCTTTGGTACATAGCTGCTGTTTCTCCACCTGGTTTCATGTATAATCAAAGGTACAGGGTTTACTCAGTCCTGTTGTGTAATAGGAAGCAGGAAAGGGCAAGGGCCCTGGGAACAACCTCAGCCCTGCCACTTACTGGTCATGTAACCCCGAGCAAAATGACCACCTCTGAGCCCCAGTCTCCTCTTCTGTAAATGGGTATACCACCACCTACTCATAGGCTGCGTGATGAGAAATGGAATAATGTCAGGGAGTGCCTGGCATGACGCTGGC... |
Task1_train_25861 | A variant affecting Chromosome 18, within the gene NPC1 (NPC intracellular cholesterol transporter 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | TCTCGATTGCTCTGGGTTCTTTGGTACATAGCTGCTGTTTCTCCACCTGGTTTCATGTATAATCAAAGGTACAGGGTTTACTCAGTCCTGTTGTGTAATAGGAAGCAGGAAAGGGCAAGGGCCCTGGGAACAACCTCAGCCCTGCCACTTACTGGTCATGTAACCCCGAGCAAAATGACCACCTCTGAGCCCCAGTCTCCTCTTCTGTAAATGGGTATACCACCACCTACTCATAGGCTGCGTGATGAGAAATGGAATAATGTCAGGGAGTGCCTGGCATGACGCTGGCACCCTGGAGGCTCCCCAGGAACGGTGGCTAC... | TCTCGATTGCTCTGGGTTCTTTGGTACATAGCTGCTGTTTCTCCACCTGGTTTCATGTATAATCAAAGGTACAGGGTTTACTCAGTCCTGTTGTGTAATAGGAAGCAGGAAAGGGCAAGGGCCCTGGGAACAACCTCAGCCCTGCCACTTACTGGTCATGTAACCCCGAGCAAAATGACCACCTCTGAGCCCCAGTCTCCTCTTCTGTAAATGGGTATACCACCACCTACTCATAGGCTGCGTGATGAGAAATGGAATAATGTCAGGGAGTGCCTGGCATGACGCTGGCACCCTGGAGGCTCCCCAGGAACGGTGGCTAC... |
Task1_train_25862 | This is a variant in NPC1 (NPC intracellular cholesterol transporter 1), located on Chromosome 18. Is this mutation a likely cause of disease or not? | Pathogenic; Niemann-Pick disease, type C | CTGGGTTCTTTGGTACATAGCTGCTGTTTCTCCACCTGGTTTCATGTATAATCAAAGGTACAGGGTTTACTCAGTCCTGTTGTGTAATAGGAAGCAGGAAAGGGCAAGGGCCCTGGGAACAACCTCAGCCCTGCCACTTACTGGTCATGTAACCCCGAGCAAAATGACCACCTCTGAGCCCCAGTCTCCTCTTCTGTAAATGGGTATACCACCACCTACTCATAGGCTGCGTGATGAGAAATGGAATAATGTCAGGGAGTGCCTGGCATGACGCTGGCACCCTGGAGGCTCCCCAGGAACGGTGGCTACTGCCTTCAGAA... | CTGGGTTCTTTGGTACATAGCTGCTGTTTCTCCACCTGGTTTCATGTATAATCAAAGGTACAGGGTTTACTCAGTCCTGTTGTGTAATAGGAAGCAGGAAAGGGCAAGGGCCCTGGGAACAACCTCAGCCCTGCCACTTACTGGTCATGTAACCCCGAGCAAAATGACCACCTCTGAGCCCCAGTCTCCTCTTCTGTAAATGGGTATACCACCACCTACTCATAGGCTGCGTGATGAGAAATGGAATAATGTCAGGGAGTGCCTGGCATGACGCTGGCACCCTGGAGGCTCCCCAGGAACGGTGGCTACTGCCTTCAGAA... |
Task1_train_25863 | This variant impacts the gene NPC1 (NPC intracellular cholesterol transporter 1) on Chromosome 18. Is the change likely to result in a pathogenic outcome? | Pathogenic; Niemann-Pick disease, type C1 | CTGGGTTCTTTGGTACATAGCTGCTGTTTCTCCACCTGGTTTCATGTATAATCAAAGGTACAGGGTTTACTCAGTCCTGTTGTGTAATAGGAAGCAGGAAAGGGCAAGGGCCCTGGGAACAACCTCAGCCCTGCCACTTACTGGTCATGTAACCCCGAGCAAAATGACCACCTCTGAGCCCCAGTCTCCTCTTCTGTAAATGGGTATACCACCACCTACTCATAGGCTGCGTGATGAGAAATGGAATAATGTCAGGGAGTGCCTGGCATGACGCTGGCACCCTGGAGGCTCCCCAGGAACGGTGGCTACTGCCTTCAGAA... | CTGGGTTCTTTGGTACATAGCTGCTGTTTCTCCACCTGGTTTCATGTATAATCAAAGGTACAGGGTTTACTCAGTCCTGTTGTGTAATAGGAAGCAGGAAAGGGCAAGGGCCCTGGGAACAACCTCAGCCCTGCCACTTACTGGTCATGTAACCCCGAGCAAAATGACCACCTCTGAGCCCCAGTCTCCTCTTCTGTAAATGGGTATACCACCACCTACTCATAGGCTGCGTGATGAGAAATGGAATAATGTCAGGGAGTGCCTGGCATGACGCTGGCACCCTGGAGGCTCCCCAGGAACGGTGGCTACTGCCTTCAGAA... |
Task1_train_25864 | This mutation is located in gene NPC1 (NPC intracellular cholesterol transporter 1) on Chromosome 18. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Niemann-Pick disease, type C1 | AATCAAGCTGCAAGATTCATTTCTACTTAACTTTTAGGAGGAGTCATCCCATGATACCTCGAATAGGTCTCAAAGCACATGCATGATATAAATGATTCACTGATATGACTCTGGTCAGATGTATGTTCTTATGAAAAACCTAAGTTCAGGGTTTACCTAACATACATGGGGATACTCATCTTCCACCTCCCAAAGCTTCCAAATCAAGGCCAGAGACTTCCGGTCATCATCACTATTTTTGGGCCATATATCTGGCTTCCGTGGGTAACTGGCTGCCTGGCTGGATGGGGGAGTGAGATAGCCCATAACCCTATACATGG... | AATCAAGCTGCAAGATTCATTTCTACTTAACTTTTAGGAGGAGTCATCCCATGATACCTCGAATAGGTCTCAAAGCACATGCATGATATAAATGATTCACTGATATGACTCTGGTCAGATGTATGTTCTTATGAAAAACCTAAGTTCAGGGTTTACCTAACATACATGGGGATACTCATCTTCCACCTCCCAAAGCTTCCAAATCAAGGCCAGAGACTTCCGGTCATCATCACTATTTTTGGGCCATATATCTGGCTTCCGTGGGTAACTGGCTGCCTGGCTGGATGGGGGAGTGAGATAGCCCATAACCCTATACATGG... |
Task1_train_25865 | Gene NPC1 (NPC intracellular cholesterol transporter 1), found on Chromosome 18, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Niemann-Pick disease, type C1 | TCATCCCATGATACCTCGAATAGGTCTCAAAGCACATGCATGATATAAATGATTCACTGATATGACTCTGGTCAGATGTATGTTCTTATGAAAAACCTAAGTTCAGGGTTTACCTAACATACATGGGGATACTCATCTTCCACCTCCCAAAGCTTCCAAATCAAGGCCAGAGACTTCCGGTCATCATCACTATTTTTGGGCCATATATCTGGCTTCCGTGGGTAACTGGCTGCCTGGCTGGATGGGGGAGTGAGATAGCCCATAACCCTATACATGGATGGGCTGGCAAGGAGCATGACGAGGCTAAAAGAATCGCAACC... | TCATCCCATGATACCTCGAATAGGTCTCAAAGCACATGCATGATATAAATGATTCACTGATATGACTCTGGTCAGATGTATGTTCTTATGAAAAACCTAAGTTCAGGGTTTACCTAACATACATGGGGATACTCATCTTCCACCTCCCAAAGCTTCCAAATCAAGGCCAGAGACTTCCGGTCATCATCACTATTTTTGGGCCATATATCTGGCTTCCGTGGGTAACTGGCTGCCTGGCTGGATGGGGGAGTGAGATAGCCCATAACCCTATACATGGATGGGCTGGCAAGGAGCATGACGAGGCTAAAAGAATCGCAACC... |
Task1_train_25866 | Here is a genetic alteration in NPC1 (NPC intracellular cholesterol transporter 1) on Chromosome 18. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Niemann-Pick disease, type C1, adult form | ATGTATGTTCTTATGAAAAACCTAAGTTCAGGGTTTACCTAACATACATGGGGATACTCATCTTCCACCTCCCAAAGCTTCCAAATCAAGGCCAGAGACTTCCGGTCATCATCACTATTTTTGGGCCATATATCTGGCTTCCGTGGGTAACTGGCTGCCTGGCTGGATGGGGGAGTGAGATAGCCCATAACCCTATACATGGATGGGCTGGCAAGGAGCATGACGAGGCTAAAAGAATCGCAACCTTAATGTGGGATAATGTTACTAAAGCTAAGATCACGCCCCAGCTGCCATCAGTACAAGTGAACAGGCCAAGTTCC... | ATGTATGTTCTTATGAAAAACCTAAGTTCAGGGTTTACCTAACATACATGGGGATACTCATCTTCCACCTCCCAAAGCTTCCAAATCAAGGCCAGAGACTTCCGGTCATCATCACTATTTTTGGGCCATATATCTGGCTTCCGTGGGTAACTGGCTGCCTGGCTGGATGGGGGAGTGAGATAGCCCATAACCCTATACATGGATGGGCTGGCAAGGAGCATGACGAGGCTAAAAGAATCGCAACCTTAATGTGGGATAATGTTACTAAAGCTAAGATCACGCCCCAGCTGCCATCAGTACAAGTGAACAGGCCAAGTTCC... |
Task1_train_25867 | A mutation in NPC1 (NPC intracellular cholesterol transporter 1), located on Chromosome 18, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Niemann-Pick disease, type C1 | TGTTCTTATGAAAAACCTAAGTTCAGGGTTTACCTAACATACATGGGGATACTCATCTTCCACCTCCCAAAGCTTCCAAATCAAGGCCAGAGACTTCCGGTCATCATCACTATTTTTGGGCCATATATCTGGCTTCCGTGGGTAACTGGCTGCCTGGCTGGATGGGGGAGTGAGATAGCCCATAACCCTATACATGGATGGGCTGGCAAGGAGCATGACGAGGCTAAAAGAATCGCAACCTTAATGTGGGATAATGTTACTAAAGCTAAGATCACGCCCCAGCTGCCATCAGTACAAGTGAACAGGCCAAGTTCCTTCAG... | TGTTCTTATGAAAAACCTAAGTTCAGGGTTTACCTAACATACATGGGGATACTCATCTTCCACCTCCCAAAGCTTCCAAATCAAGGCCAGAGACTTCCGGTCATCATCACTATTTTTGGGCCATATATCTGGCTTCCGTGGGTAACTGGCTGCCTGGCTGGATGGGGGAGTGAGATAGCCCATAACCCTATACATGGATGGGCTGGCAAGGAGCATGACGAGGCTAAAAGAATCGCAACCTTAATGTGGGATAATGTTACTAAAGCTAAGATCACGCCCCAGCTGCCATCAGTACAAGTGAACAGGCCAAGTTCCTTCAG... |
Task1_train_25868 | This gene mutation involves NPC1 (NPC intracellular cholesterol transporter 1) on Chromosome 18. Is it associated with any clinical condition, or is it benign? | Pathogenic; Niemann-Pick disease, type C1 | TCATCTTCCACCTCCCAAAGCTTCCAAATCAAGGCCAGAGACTTCCGGTCATCATCACTATTTTTGGGCCATATATCTGGCTTCCGTGGGTAACTGGCTGCCTGGCTGGATGGGGGAGTGAGATAGCCCATAACCCTATACATGGATGGGCTGGCAAGGAGCATGACGAGGCTAAAAGAATCGCAACCTTAATGTGGGATAATGTTACTAAAGCTAAGATCACGCCCCAGCTGCCATCAGTACAAGTGAACAGGCCAAGTTCCTTCAGGCCTGGATTACCAGCAGGCCGTCCTCTCCCTCAGCCCCGCTTGGAATGTGCA... | TCATCTTCCACCTCCCAAAGCTTCCAAATCAAGGCCAGAGACTTCCGGTCATCATCACTATTTTTGGGCCATATATCTGGCTTCCGTGGGTAACTGGCTGCCTGGCTGGATGGGGGAGTGAGATAGCCCATAACCCTATACATGGATGGGCTGGCAAGGAGCATGACGAGGCTAAAAGAATCGCAACCTTAATGTGGGATAATGTTACTAAAGCTAAGATCACGCCCCAGCTGCCATCAGTACAAGTGAACAGGCCAAGTTCCTTCAGGCCTGGATTACCAGCAGGCCGTCCTCTCCCTCAGCCCCGCTTGGAATGTGCA... |
Task1_train_25869 | The gene NPC1 (NPC intracellular cholesterol transporter 1) on Chromosome 18 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Niemann-Pick disease, type C1 | CCAAAGGACCAGGACAGGGTGGGGCGGAGAAGAGACGTTCCCATGCAACTGTCTTAGCCCAGTCCTCTCCTAGTTTTCTACTGCAAATTAAAGTTGCAGTGGATGCTTATCTGCAATGGCAGCAGCACTTACCCTTTGCCACACTTGGGGTTAGGGTTATCCGAAAGGAACATGGGCAGGAATCTCATGAAGTCTCCCCCCTGAGGCCTCTGTTTGCCTTCCGGAGTCAGAGGCCTGCAGCGAACGCAGGCAGGGTCAACCACTGGCGGAGACATGCAGGGAGGACTGTTAGAAGAATAGGTCTCCAGATTTTTTGTAAA... | CCAAAGGACCAGGACAGGGTGGGGCGGAGAAGAGACGTTCCCATGCAACTGTCTTAGCCCAGTCCTCTCCTAGTTTTCTACTGCAAATTAAAGTTGCAGTGGATGCTTATCTGCAATGGCAGCAGCACTTACCCTTTGCCACACTTGGGGTTAGGGTTATCCGAAAGGAACATGGGCAGGAATCTCATGAAGTCTCCCCCCTGAGGCCTCTGTTTGCCTTCCGGAGTCAGAGGCCTGCAGCGAACGCAGGCAGGGTCAACCACTGGCGGAGACATGCAGGGAGGACTGTTAGAAGAATAGGTCTCCAGATTTTTTGTAAA... |
Task1_train_25870 | Assess the clinical impact of this variant on gene NPC1 (NPC intracellular cholesterol transporter 1), found on Chromosome 18. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Niemann-Pick disease, type C1 | CCTAGTTTTCTACTGCAAATTAAAGTTGCAGTGGATGCTTATCTGCAATGGCAGCAGCACTTACCCTTTGCCACACTTGGGGTTAGGGTTATCCGAAAGGAACATGGGCAGGAATCTCATGAAGTCTCCCCCCTGAGGCCTCTGTTTGCCTTCCGGAGTCAGAGGCCTGCAGCGAACGCAGGCAGGGTCAACCACTGGCGGAGACATGCAGGGAGGACTGTTAGAAGAATAGGTCTCCAGATTTTTTGTAAAACATTTTAAAATACTGACAGTGAGGGGCATTACTTTCTTCTCTATCGATTACTTTCCTTACTAGTGAG... | CCTAGTTTTCTACTGCAAATTAAAGTTGCAGTGGATGCTTATCTGCAATGGCAGCAGCACTTACCCTTTGCCACACTTGGGGTTAGGGTTATCCGAAAGGAACATGGGCAGGAATCTCATGAAGTCTCCCCCCTGAGGCCTCTGTTTGCCTTCCGGAGTCAGAGGCCTGCAGCGAACGCAGGCAGGGTCAACCACTGGCGGAGACATGCAGGGAGGACTGTTAGAAGAATAGGTCTCCAGATTTTTTGTAAAACATTTTAAAATACTGACAGTGAGGGGCATTACTTTCTTCTCTATCGATTACTTTCCTTACTAGTGAG... |
Task1_train_25871 | This alteration occurs within gene NPC1 (NPC intracellular cholesterol transporter 1) located on Chromosome 18. Is it associated with a disease or is it a benign variant? | Pathogenic; Niemann-Pick disease, type C | CCTAGTTTTCTACTGCAAATTAAAGTTGCAGTGGATGCTTATCTGCAATGGCAGCAGCACTTACCCTTTGCCACACTTGGGGTTAGGGTTATCCGAAAGGAACATGGGCAGGAATCTCATGAAGTCTCCCCCCTGAGGCCTCTGTTTGCCTTCCGGAGTCAGAGGCCTGCAGCGAACGCAGGCAGGGTCAACCACTGGCGGAGACATGCAGGGAGGACTGTTAGAAGAATAGGTCTCCAGATTTTTTGTAAAACATTTTAAAATACTGACAGTGAGGGGCATTACTTTCTTCTCTATCGATTACTTTCCTTACTAGTGAG... | CCTAGTTTTCTACTGCAAATTAAAGTTGCAGTGGATGCTTATCTGCAATGGCAGCAGCACTTACCCTTTGCCACACTTGGGGTTAGGGTTATCCGAAAGGAACATGGGCAGGAATCTCATGAAGTCTCCCCCCTGAGGCCTCTGTTTGCCTTCCGGAGTCAGAGGCCTGCAGCGAACGCAGGCAGGGTCAACCACTGGCGGAGACATGCAGGGAGGACTGTTAGAAGAATAGGTCTCCAGATTTTTTGTAAAACATTTTAAAATACTGACAGTGAGGGGCATTACTTTCTTCTCTATCGATTACTTTCCTTACTAGTGAG... |
Task1_train_25872 | A change on Chromosome 18 affects gene NPC1 (NPC intracellular cholesterol transporter 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Niemann-Pick disease, type C | TGAAAATTTTTCAGCAAAACAGGAAAGATTTGGTAAAGGAGAAGGTACCTGAAGCATTGCAGAACTGGTCAGTGATATTGTCCACTCGACAGCAAGACGACTGTGGCTTCACCCAGTCGAAATAATCGTCGATCCAGGACGAGGGGGCGAAGCCTATTCGGGTACTAGAGAGGACAGACAGGGTTACTGACCTGCTCCACAGGGAGGAAGTCTTTAGTTTCAGTACTTTTTCTTAAAACCTAACTTCCTTTTCTACGTTTTATACTGCTAACAGTCAAAAGAAAAACTACATGAGCACTTAATGAAAAAAGCCTTCAAAG... | TGAAAATTTTTCAGCAAAACAGGAAAGATTTGGTAAAGGAGAAGGTACCTGAAGCATTGCAGAACTGGTCAGTGATATTGTCCACTCGACAGCAAGACGACTGTGGCTTCACCCAGTCGAAATAATCGTCGATCCAGGACGAGGGGGCGAAGCCTATTCGGGTACTAGAGAGGACAGACAGGGTTACTGACCTGCTCCACAGGGAGGAAGTCTTTAGTTTCAGTACTTTTTCTTAAAACCTAACTTCCTTTTCTACGTTTTATACTGCTAACAGTCAAAAGAAAAACTACATGAGCACTTAATGAAAAAAGCCTTCAAAG... |
Task1_train_25873 | Consider this mutation in NPC1 (NPC intracellular cholesterol transporter 1) on Chromosome 18. Is this a benign change or a disease-causing variant? | Pathogenic; Niemann-Pick disease, type C1 | TGAAAATTTTTCAGCAAAACAGGAAAGATTTGGTAAAGGAGAAGGTACCTGAAGCATTGCAGAACTGGTCAGTGATATTGTCCACTCGACAGCAAGACGACTGTGGCTTCACCCAGTCGAAATAATCGTCGATCCAGGACGAGGGGGCGAAGCCTATTCGGGTACTAGAGAGGACAGACAGGGTTACTGACCTGCTCCACAGGGAGGAAGTCTTTAGTTTCAGTACTTTTTCTTAAAACCTAACTTCCTTTTCTACGTTTTATACTGCTAACAGTCAAAAGAAAAACTACATGAGCACTTAATGAAAAAAGCCTTCAAAG... | TGAAAATTTTTCAGCAAAACAGGAAAGATTTGGTAAAGGAGAAGGTACCTGAAGCATTGCAGAACTGGTCAGTGATATTGTCCACTCGACAGCAAGACGACTGTGGCTTCACCCAGTCGAAATAATCGTCGATCCAGGACGAGGGGGCGAAGCCTATTCGGGTACTAGAGAGGACAGACAGGGTTACTGACCTGCTCCACAGGGAGGAAGTCTTTAGTTTCAGTACTTTTTCTTAAAACCTAACTTCCTTTTCTACGTTTTATACTGCTAACAGTCAAAAGAAAAACTACATGAGCACTTAATGAAAAAAGCCTTCAAAG... |
Task1_train_25874 | Gene NPC1 (NPC intracellular cholesterol transporter 1) on Chromosome 18 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Niemann-Pick disease, type C1 | TAAAGGAGAAGGTACCTGAAGCATTGCAGAACTGGTCAGTGATATTGTCCACTCGACAGCAAGACGACTGTGGCTTCACCCAGTCGAAATAATCGTCGATCCAGGACGAGGGGGCGAAGCCTATTCGGGTACTAGAGAGGACAGACAGGGTTACTGACCTGCTCCACAGGGAGGAAGTCTTTAGTTTCAGTACTTTTTCTTAAAACCTAACTTCCTTTTCTACGTTTTATACTGCTAACAGTCAAAAGAAAAACTACATGAGCACTTAATGAAAAAAGCCTTCAAAGTATTAGGTGGTAAATTAGTCCTTTCAAAGGTTT... | TAAAGGAGAAGGTACCTGAAGCATTGCAGAACTGGTCAGTGATATTGTCCACTCGACAGCAAGACGACTGTGGCTTCACCCAGTCGAAATAATCGTCGATCCAGGACGAGGGGGCGAAGCCTATTCGGGTACTAGAGAGGACAGACAGGGTTACTGACCTGCTCCACAGGGAGGAAGTCTTTAGTTTCAGTACTTTTTCTTAAAACCTAACTTCCTTTTCTACGTTTTATACTGCTAACAGTCAAAAGAAAAACTACATGAGCACTTAATGAAAAAAGCCTTCAAAGTATTAGGTGGTAAATTAGTCCTTTCAAAGGTTT... |
Task1_train_25875 | Gene NPC1 (NPC intracellular cholesterol transporter 1), found on Chromosome 18, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Niemann-Pick disease, type C2 | TAAAGGAGAAGGTACCTGAAGCATTGCAGAACTGGTCAGTGATATTGTCCACTCGACAGCAAGACGACTGTGGCTTCACCCAGTCGAAATAATCGTCGATCCAGGACGAGGGGGCGAAGCCTATTCGGGTACTAGAGAGGACAGACAGGGTTACTGACCTGCTCCACAGGGAGGAAGTCTTTAGTTTCAGTACTTTTTCTTAAAACCTAACTTCCTTTTCTACGTTTTATACTGCTAACAGTCAAAAGAAAAACTACATGAGCACTTAATGAAAAAAGCCTTCAAAGTATTAGGTGGTAAATTAGTCCTTTCAAAGGTTT... | TAAAGGAGAAGGTACCTGAAGCATTGCAGAACTGGTCAGTGATATTGTCCACTCGACAGCAAGACGACTGTGGCTTCACCCAGTCGAAATAATCGTCGATCCAGGACGAGGGGGCGAAGCCTATTCGGGTACTAGAGAGGACAGACAGGGTTACTGACCTGCTCCACAGGGAGGAAGTCTTTAGTTTCAGTACTTTTTCTTAAAACCTAACTTCCTTTTCTACGTTTTATACTGCTAACAGTCAAAAGAAAAACTACATGAGCACTTAATGAAAAAAGCCTTCAAAGTATTAGGTGGTAAATTAGTCCTTTCAAAGGTTT... |
Task1_train_25876 | The following genetic variant occurs in NPC1 (NPC intracellular cholesterol transporter 1) on Chromosome 18. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Niemann-Pick disease, type C1 | CCGGGGGCTCTCTGCAGGTCTTATGTTCATGTGCATGTACAGATACAAGGAGCCAGCACAGGCCAAACGCATGAGAAGGCATGCTGCGGCTGGACATTACACCAGAAGTGGGACAGGAGGTGATAAGCCAGTGCTTTTCAAAGCACACTCAGCACCAGACCATTTGGGAAGCCCCATCCTAGTTATGACAGGAATTCAACCCCAATTCTACTATACTCAGGTTCACAGCAAATTCACACACATTAAAATTTGAGAACCACTAATACAGGCCATTTCTTATAGTACTTTCTGTGCTTCACTGTAAGAAATGGACAGTATTT... | CCGGGGGCTCTCTGCAGGTCTTATGTTCATGTGCATGTACAGATACAAGGAGCCAGCACAGGCCAAACGCATGAGAAGGCATGCTGCGGCTGGACATTACACCAGAAGTGGGACAGGAGGTGATAAGCCAGTGCTTTTCAAAGCACACTCAGCACCAGACCATTTGGGAAGCCCCATCCTAGTTATGACAGGAATTCAACCCCAATTCTACTATACTCAGGTTCACAGCAAATTCACACACATTAAAATTTGAGAACCACTAATACAGGCCATTTCTTATAGTACTTTCTGTGCTTCACTGTAAGAAATGGACAGTATTT... |
Task1_train_25877 | Chromosome 18 houses a mutation in gene NPC1 (NPC intracellular cholesterol transporter 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Niemann-Pick disease, type C | TGAAAGACTACCACCTACAATGACCTTACAATGGCCCTGATTAAGCTGACCTCCCAGCCATGTAGGCATTGCAGTTTGTGGCCCGTGGATGGTCTTCTTTGGACTGAGTGATTCCAGTCCAGCCTCCCCTATAGTGGACAGAGTCACTTTGCTCTTACTACACTTCAGACATGGGGCAGACAGCCCCACTAGTGGGTCTATTTGATGATTCTCTATGTGAAAGAAACACAGAAGTGCTGACTTTGTTCCAGCTTATTCTGGCTCCTTGTAATGTGGTGAGTCAAGAGCTTCTGGTCATTAACAAGGCTGCTTCCCCAATG... | TGAAAGACTACCACCTACAATGACCTTACAATGGCCCTGATTAAGCTGACCTCCCAGCCATGTAGGCATTGCAGTTTGTGGCCCGTGGATGGTCTTCTTTGGACTGAGTGATTCCAGTCCAGCCTCCCCTATAGTGGACAGAGTCACTTTGCTCTTACTACACTTCAGACATGGGGCAGACAGCCCCACTAGTGGGTCTATTTGATGATTCTCTATGTGAAAGAAACACAGAAGTGCTGACTTTGTTCCAGCTTATTCTGGCTCCTTGTAATGTGGTGAGTCAAGAGCTTCTGGTCATTAACAAGGCTGCTTCCCCAATG... |
Task1_train_25878 | This variant affects the gene NPC1 (NPC intracellular cholesterol transporter 1) found on Chromosome 18. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Niemann-Pick disease, type C1 | CAGCCATGTAGGCATTGCAGTTTGTGGCCCGTGGATGGTCTTCTTTGGACTGAGTGATTCCAGTCCAGCCTCCCCTATAGTGGACAGAGTCACTTTGCTCTTACTACACTTCAGACATGGGGCAGACAGCCCCACTAGTGGGTCTATTTGATGATTCTCTATGTGAAAGAAACACAGAAGTGCTGACTTTGTTCCAGCTTATTCTGGCTCCTTGTAATGTGGTGAGTCAAGAGCTTCTGGTCATTAACAAGGCTGCTTCCCCAATGAGTTGTGTGCACAGAAGAGAAAGACTGCCTTTGAAAACAACGGCAAACATCTTG... | CAGCCATGTAGGCATTGCAGTTTGTGGCCCGTGGATGGTCTTCTTTGGACTGAGTGATTCCAGTCCAGCCTCCCCTATAGTGGACAGAGTCACTTTGCTCTTACTACACTTCAGACATGGGGCAGACAGCCCCACTAGTGGGTCTATTTGATGATTCTCTATGTGAAAGAAACACAGAAGTGCTGACTTTGTTCCAGCTTATTCTGGCTCCTTGTAATGTGGTGAGTCAAGAGCTTCTGGTCATTAACAAGGCTGCTTCCCCAATGAGTTGTGTGCACAGAAGAGAAAGACTGCCTTTGAAAACAACGGCAAACATCTTG... |
Task1_train_25879 | A variant has been detected on Chromosome 18 in NPC1 (NPC intracellular cholesterol transporter 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Niemann-Pick disease, type C1 | AAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCGGGAGGCGGAGGCTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCGTCTCAGAGAAAAAAAAAAAAAA... | AAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCGGGAGGCGGAGGCTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCGTCTCAGAGAAAAAAAAAAAAAA... |
Task1_train_25880 | A genetic alteration is present in NPC1 (NPC intracellular cholesterol transporter 1) on Chromosome 18. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Niemann-Pick disease, type C1 | GAGGGAGGTCAGGTGACCTGCAGCGAGCAGCTGAGTCCCTTCATCCACAGCAGAAATCTGAGAGAGCATCCAGAGGCTCAGACCCGTAAGAACCCCATGAGGAAGGCGAGGGCGAGGCAGAATTCAGGGATAAAGCCTCAAGCCTGAGTAACTGGTAGCTGTCACTGCCTTTAAACAAAATGGGGAGAAGAAGCAGGTAAGGGCATGGTTCTGGGCAGGCCACCTGCCATTACTGCAGGACCCTCAGGTGAAAAAGTCCAGGAAAAGCTGGAGGGAGAGGAAAGGGGACAGCGCTAGGGCGAGACTGGGGTTATGAGGAC... | GAGGGAGGTCAGGTGACCTGCAGCGAGCAGCTGAGTCCCTTCATCCACAGCAGAAATCTGAGAGAGCATCCAGAGGCTCAGACCCGTAAGAACCCCATGAGGAAGGCGAGGGCGAGGCAGAATTCAGGGATAAAGCCTCAAGCCTGAGTAACTGGTAGCTGTCACTGCCTTTAAACAAAATGGGGAGAAGAAGCAGGTAAGGGCATGGTTCTGGGCAGGCCACCTGCCATTACTGCAGGACCCTCAGGTGAAAAAGTCCAGGAAAAGCTGGAGGGAGAGGAAAGGGGACAGCGCTAGGGCGAGACTGGGGTTATGAGGAC... |
Task1_train_25881 | A mutation on Chromosome 18 affecting NPC1 (NPC intracellular cholesterol transporter 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Niemann-Pick disease, type C1 | ACCCGTAAGAACCCCATGAGGAAGGCGAGGGCGAGGCAGAATTCAGGGATAAAGCCTCAAGCCTGAGTAACTGGTAGCTGTCACTGCCTTTAAACAAAATGGGGAGAAGAAGCAGGTAAGGGCATGGTTCTGGGCAGGCCACCTGCCATTACTGCAGGACCCTCAGGTGAAAAAGTCCAGGAAAAGCTGGAGGGAGAGGAAAGGGGACAGCGCTAGGGCGAGACTGGGGTTATGAGGACGCGCACAAGCATAACTACAAACCAATTCAGGTCCCTGCCACCAGGAGCCTGCCACTCCCTGTACCGCTTCCACACTGGTGG... | ACCCGTAAGAACCCCATGAGGAAGGCGAGGGCGAGGCAGAATTCAGGGATAAAGCCTCAAGCCTGAGTAACTGGTAGCTGTCACTGCCTTTAAACAAAATGGGGAGAAGAAGCAGGTAAGGGCATGGTTCTGGGCAGGCCACCTGCCATTACTGCAGGACCCTCAGGTGAAAAAGTCCAGGAAAAGCTGGAGGGAGAGGAAAGGGGACAGCGCTAGGGCGAGACTGGGGTTATGAGGACGCGCACAAGCATAACTACAAACCAATTCAGGTCCCTGCCACCAGGAGCCTGCCACTCCCTGTACCGCTTCCACACTGGTGG... |
Task1_train_25882 | Located on Chromosome 18, this mutation impacts NPC1 (NPC intracellular cholesterol transporter 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Cerebellar ataxia | ACCCGTAAGAACCCCATGAGGAAGGCGAGGGCGAGGCAGAATTCAGGGATAAAGCCTCAAGCCTGAGTAACTGGTAGCTGTCACTGCCTTTAAACAAAATGGGGAGAAGAAGCAGGTAAGGGCATGGTTCTGGGCAGGCCACCTGCCATTACTGCAGGACCCTCAGGTGAAAAAGTCCAGGAAAAGCTGGAGGGAGAGGAAAGGGGACAGCGCTAGGGCGAGACTGGGGTTATGAGGACGCGCACAAGCATAACTACAAACCAATTCAGGTCCCTGCCACCAGGAGCCTGCCACTCCCTGTACCGCTTCCACACTGGTGG... | ACCCGTAAGAACCCCATGAGGAAGGCGAGGGCGAGGCAGAATTCAGGGATAAAGCCTCAAGCCTGAGTAACTGGTAGCTGTCACTGCCTTTAAACAAAATGGGGAGAAGAAGCAGGTAAGGGCATGGTTCTGGGCAGGCCACCTGCCATTACTGCAGGACCCTCAGGTGAAAAAGTCCAGGAAAAGCTGGAGGGAGAGGAAAGGGGACAGCGCTAGGGCGAGACTGGGGTTATGAGGACGCGCACAAGCATAACTACAAACCAATTCAGGTCCCTGCCACCAGGAGCCTGCCACTCCCTGTACCGCTTCCACACTGGTGG... |
Task1_train_25883 | This mutation is located in gene NPC1 (NPC intracellular cholesterol transporter 1) on Chromosome 18. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Speech apraxia | ACCCGTAAGAACCCCATGAGGAAGGCGAGGGCGAGGCAGAATTCAGGGATAAAGCCTCAAGCCTGAGTAACTGGTAGCTGTCACTGCCTTTAAACAAAATGGGGAGAAGAAGCAGGTAAGGGCATGGTTCTGGGCAGGCCACCTGCCATTACTGCAGGACCCTCAGGTGAAAAAGTCCAGGAAAAGCTGGAGGGAGAGGAAAGGGGACAGCGCTAGGGCGAGACTGGGGTTATGAGGACGCGCACAAGCATAACTACAAACCAATTCAGGTCCCTGCCACCAGGAGCCTGCCACTCCCTGTACCGCTTCCACACTGGTGG... | ACCCGTAAGAACCCCATGAGGAAGGCGAGGGCGAGGCAGAATTCAGGGATAAAGCCTCAAGCCTGAGTAACTGGTAGCTGTCACTGCCTTTAAACAAAATGGGGAGAAGAAGCAGGTAAGGGCATGGTTCTGGGCAGGCCACCTGCCATTACTGCAGGACCCTCAGGTGAAAAAGTCCAGGAAAAGCTGGAGGGAGAGGAAAGGGGACAGCGCTAGGGCGAGACTGGGGTTATGAGGACGCGCACAAGCATAACTACAAACCAATTCAGGTCCCTGCCACCAGGAGCCTGCCACTCCCTGTACCGCTTCCACACTGGTGG... |
Task1_train_25884 | A variant on Chromosome 18 in gene NPC1 (NPC intracellular cholesterol transporter 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Headache | ACCCGTAAGAACCCCATGAGGAAGGCGAGGGCGAGGCAGAATTCAGGGATAAAGCCTCAAGCCTGAGTAACTGGTAGCTGTCACTGCCTTTAAACAAAATGGGGAGAAGAAGCAGGTAAGGGCATGGTTCTGGGCAGGCCACCTGCCATTACTGCAGGACCCTCAGGTGAAAAAGTCCAGGAAAAGCTGGAGGGAGAGGAAAGGGGACAGCGCTAGGGCGAGACTGGGGTTATGAGGACGCGCACAAGCATAACTACAAACCAATTCAGGTCCCTGCCACCAGGAGCCTGCCACTCCCTGTACCGCTTCCACACTGGTGG... | ACCCGTAAGAACCCCATGAGGAAGGCGAGGGCGAGGCAGAATTCAGGGATAAAGCCTCAAGCCTGAGTAACTGGTAGCTGTCACTGCCTTTAAACAAAATGGGGAGAAGAAGCAGGTAAGGGCATGGTTCTGGGCAGGCCACCTGCCATTACTGCAGGACCCTCAGGTGAAAAAGTCCAGGAAAAGCTGGAGGGAGAGGAAAGGGGACAGCGCTAGGGCGAGACTGGGGTTATGAGGACGCGCACAAGCATAACTACAAACCAATTCAGGTCCCTGCCACCAGGAGCCTGCCACTCCCTGTACCGCTTCCACACTGGTGG... |
Task1_train_25885 | Here is a mutation in NPC1 (NPC intracellular cholesterol transporter 1) on Chromosome 18. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cataplexy | ACCCGTAAGAACCCCATGAGGAAGGCGAGGGCGAGGCAGAATTCAGGGATAAAGCCTCAAGCCTGAGTAACTGGTAGCTGTCACTGCCTTTAAACAAAATGGGGAGAAGAAGCAGGTAAGGGCATGGTTCTGGGCAGGCCACCTGCCATTACTGCAGGACCCTCAGGTGAAAAAGTCCAGGAAAAGCTGGAGGGAGAGGAAAGGGGACAGCGCTAGGGCGAGACTGGGGTTATGAGGACGCGCACAAGCATAACTACAAACCAATTCAGGTCCCTGCCACCAGGAGCCTGCCACTCCCTGTACCGCTTCCACACTGGTGG... | ACCCGTAAGAACCCCATGAGGAAGGCGAGGGCGAGGCAGAATTCAGGGATAAAGCCTCAAGCCTGAGTAACTGGTAGCTGTCACTGCCTTTAAACAAAATGGGGAGAAGAAGCAGGTAAGGGCATGGTTCTGGGCAGGCCACCTGCCATTACTGCAGGACCCTCAGGTGAAAAAGTCCAGGAAAAGCTGGAGGGAGAGGAAAGGGGACAGCGCTAGGGCGAGACTGGGGTTATGAGGACGCGCACAAGCATAACTACAAACCAATTCAGGTCCCTGCCACCAGGAGCCTGCCACTCCCTGTACCGCTTCCACACTGGTGG... |
Task1_train_25886 | A genetic alteration is present in NPC1 (NPC intracellular cholesterol transporter 1) on Chromosome 18. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cognitive impairment | ACCCGTAAGAACCCCATGAGGAAGGCGAGGGCGAGGCAGAATTCAGGGATAAAGCCTCAAGCCTGAGTAACTGGTAGCTGTCACTGCCTTTAAACAAAATGGGGAGAAGAAGCAGGTAAGGGCATGGTTCTGGGCAGGCCACCTGCCATTACTGCAGGACCCTCAGGTGAAAAAGTCCAGGAAAAGCTGGAGGGAGAGGAAAGGGGACAGCGCTAGGGCGAGACTGGGGTTATGAGGACGCGCACAAGCATAACTACAAACCAATTCAGGTCCCTGCCACCAGGAGCCTGCCACTCCCTGTACCGCTTCCACACTGGTGG... | ACCCGTAAGAACCCCATGAGGAAGGCGAGGGCGAGGCAGAATTCAGGGATAAAGCCTCAAGCCTGAGTAACTGGTAGCTGTCACTGCCTTTAAACAAAATGGGGAGAAGAAGCAGGTAAGGGCATGGTTCTGGGCAGGCCACCTGCCATTACTGCAGGACCCTCAGGTGAAAAAGTCCAGGAAAAGCTGGAGGGAGAGGAAAGGGGACAGCGCTAGGGCGAGACTGGGGTTATGAGGACGCGCACAAGCATAACTACAAACCAATTCAGGTCCCTGCCACCAGGAGCCTGCCACTCCCTGTACCGCTTCCACACTGGTGG... |
Task1_train_25887 | A variant was discovered in gene NPC1 (NPC intracellular cholesterol transporter 1), Chromosome 18. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Postural instability | ACCCGTAAGAACCCCATGAGGAAGGCGAGGGCGAGGCAGAATTCAGGGATAAAGCCTCAAGCCTGAGTAACTGGTAGCTGTCACTGCCTTTAAACAAAATGGGGAGAAGAAGCAGGTAAGGGCATGGTTCTGGGCAGGCCACCTGCCATTACTGCAGGACCCTCAGGTGAAAAAGTCCAGGAAAAGCTGGAGGGAGAGGAAAGGGGACAGCGCTAGGGCGAGACTGGGGTTATGAGGACGCGCACAAGCATAACTACAAACCAATTCAGGTCCCTGCCACCAGGAGCCTGCCACTCCCTGTACCGCTTCCACACTGGTGG... | ACCCGTAAGAACCCCATGAGGAAGGCGAGGGCGAGGCAGAATTCAGGGATAAAGCCTCAAGCCTGAGTAACTGGTAGCTGTCACTGCCTTTAAACAAAATGGGGAGAAGAAGCAGGTAAGGGCATGGTTCTGGGCAGGCCACCTGCCATTACTGCAGGACCCTCAGGTGAAAAAGTCCAGGAAAAGCTGGAGGGAGAGGAAAGGGGACAGCGCTAGGGCGAGACTGGGGTTATGAGGACGCGCACAAGCATAACTACAAACCAATTCAGGTCCCTGCCACCAGGAGCCTGCCACTCCCTGTACCGCTTCCACACTGGTGG... |
Task1_train_25888 | With a mutation on Chromosome 18 in gene NPC1 (NPC intracellular cholesterol transporter 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Niemann-Pick disease, type C1 | TAATCTCTAGCTGGCACGATAGCACATGTTATGTGTTCATCAACCGTCTCCCTCCATTAAGATGTAAGCTTCCAGCTGGGCATGGAAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCGCCTGAGGTCAGGAGATTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGC... | TAATCTCTAGCTGGCACGATAGCACATGTTATGTGTTCATCAACCGTCTCCCTCCATTAAGATGTAAGCTTCCAGCTGGGCATGGAAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCGCCTGAGGTCAGGAGATTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGC... |
Task1_train_25889 | This variant lies on Chromosome 18 and affects the gene NPC1 (NPC intracellular cholesterol transporter 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Niemann-Pick disease, type C | AGATGTAAGCTTCCAGCTGGGCATGGAAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCGCCTGAGGTCAGGAGATTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGT... | AGATGTAAGCTTCCAGCTGGGCATGGAAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCGCCTGAGGTCAGGAGATTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGT... |
Task1_train_25890 | Mutation context: Chromosome 18, Gene NPC1 (NPC intracellular cholesterol transporter 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Niemann-Pick disease, type C1 | AGATGTAAGCTTCCAGCTGGGCATGGAAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCGCCTGAGGTCAGGAGATTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGT... | AGATGTAAGCTTCCAGCTGGGCATGGAAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCGCCTGAGGTCAGGAGATTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGT... |
Task1_train_25891 | A mutation on Chromosome 18 affecting NPC1 (NPC intracellular cholesterol transporter 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Niemann-Pick disease, type C1 | TTCCAGCTGGGCATGGAAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCGCCTGAGGTCAGGAGATTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGTAAACTTCACA... | TTCCAGCTGGGCATGGAAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCGCCTGAGGTCAGGAGATTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGTAAACTTCACA... |
Task1_train_25892 | A variant was discovered in gene NPC1 (NPC intracellular cholesterol transporter 1), Chromosome 18. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Niemann-Pick disease, type C1 | GAGATTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGTAAACTTCACAGGGCAAGGTCTTGTTGTTTGCTCACCTCTGGGTTATGCTCATAAAACAAGCTTTTGCCCATGTACCCTAAGTCAGACC... | GAGATTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGTAAACTTCACAGGGCAAGGTCTTGTTGTTTGCTCACCTCTGGGTTATGCTCATAAAACAAGCTTTTGCCCATGTACCCTAAGTCAGACC... |
Task1_train_25893 | This gene mutation involves NPC1 (NPC intracellular cholesterol transporter 1) on Chromosome 18. Is it associated with any clinical condition, or is it benign? | Pathogenic; Niemann-Pick disease, type C1 | CTACTCAGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGTAAACTTCACAGGGCAAGGTCTTGTTGTTTGCTCACCTCTGGGTTATGCTCATAAAACAAGCTTTTGCCCATGTACCCTAAGTCAGACCCAAGAATGGTGTCTACCAATGATTGTCTCTTGCCACTTACCGTACGCAGTACAGAAAGTGCGTGTGGTAATCGGCATACACAAAGAAGTCGTCCC... | CTACTCAGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGTAAACTTCACAGGGCAAGGTCTTGTTGTTTGCTCACCTCTGGGTTATGCTCATAAAACAAGCTTTTGCCCATGTACCCTAAGTCAGACCCAAGAATGGTGTCTACCAATGATTGTCTCTTGCCACTTACCGTACGCAGTACAGAAAGTGCGTGTGGTAATCGGCATACACAAAGAAGTCGTCCC... |
Task1_train_25894 | This variant affects gene NPC1 (NPC intracellular cholesterol transporter 1) located on Chromosome 18. Evaluate its biological effect and specify any disease association. | Pathogenic; Niemann-Pick disease, type C1 | ACTATAGTACTCCATTTAATTAGATTTGAATCTGATTTCGCTCATTTGACTCTGACTTTTTTTTTTTTTTTTTTTTTTTTGGTGAGACACAGTCTCGCACTGTCGCCAGGGCTGTTTGCAATGGACTCCTGACCTCATGATTCTCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGAGCCTGGCCTTGACTCTGACTTTCTAAAGAATGAGTGGCCGGCTGGGCACGGTGGCTTACTCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTGGAGATCAGC... | ACTATAGTACTCCATTTAATTAGATTTGAATCTGATTTCGCTCATTTGACTCTGACTTTTTTTTTTTTTTTTTTTTTTTTGGTGAGACACAGTCTCGCACTGTCGCCAGGGCTGTTTGCAATGGACTCCTGACCTCATGATTCTCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGAGCCTGGCCTTGACTCTGACTTTCTAAAGAATGAGTGGCCGGCTGGGCACGGTGGCTTACTCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTGGAGATCAGC... |
Task1_train_25895 | Here’s a variant in NPC1 (NPC intracellular cholesterol transporter 1) located on Chromosome 18. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Niemann-Pick disease, type C1 | TCAAGAGTCTCTGTTCTAGTGAAGGAGACAGAGAAGCACAGACTCTCTTTCTTTCAGGAGCCCCACTGCTTTACTGCAACAAAGCCAGAAACCACAATTGTATTATTCTAATAGGAATCACTCTTGGGGTACACAGTTTTCAAACCTTTTCCATGTTACTACATTTAATGCCCACAATCACTAATTTTGACAGCTGTATATTTTTCCAAATATCAGGTTGTTTCTCCTGTTTGCTATTATAAATCAAGCTTTGGTACCTCTGATAATATGGAGAAAGGTTGGCTATCTTTTTATGTTTATGTCCGTATGTCCATAATGCC... | TCAAGAGTCTCTGTTCTAGTGAAGGAGACAGAGAAGCACAGACTCTCTTTCTTTCAGGAGCCCCACTGCTTTACTGCAACAAAGCCAGAAACCACAATTGTATTATTCTAATAGGAATCACTCTTGGGGTACACAGTTTTCAAACCTTTTCCATGTTACTACATTTAATGCCCACAATCACTAATTTTGACAGCTGTATATTTTTCCAAATATCAGGTTGTTTCTCCTGTTTGCTATTATAAATCAAGCTTTGGTACCTCTGATAATATGGAGAAAGGTTGGCTATCTTTTTATGTTTATGTCCGTATGTCCATAATGCC... |
Task1_train_25896 | A variant has been detected on Chromosome 18 in LAMA3 (laminin subunit alpha 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | CTTCTTCCATCCCCTCCAGCCCTCCCCCAGGCTGCCTCATGCCCCTTGCCTACTCTAACTCCTTCATCCTGGACCATTTCTTCCCCTTATGGCCAATTTCCAGGCCTCCAGGCCCCTCTCTGGACCTGGAATGACCCTAGCATCTTGGCTCTTGCTTAAAGCCATTCCAGATTTCAAGAAATACCATTTAAGGCAATAAGGGACCTATTTATTTCTCTAATGAGGCAACTGGACTTCAGAAAATGTAAGTGACTTGACAAGTTGCATTCCCTTAGTCATTCAGCTGCCTTCCTGGAACACATAAGCAAACAATCCTCAAT... | CTTCTTCCATCCCCTCCAGCCCTCCCCCAGGCTGCCTCATGCCCCTTGCCTACTCTAACTCCTTCATCCTGGACCATTTCTTCCCCTTATGGCCAATTTCCAGGCCTCCAGGCCCCTCTCTGGACCTGGAATGACCCTAGCATCTTGGCTCTTGCTTAAAGCCATTCCAGATTTCAAGAAATACCATTTAAGGCAATAAGGGACCTATTTATTTCTCTAATGAGGCAACTGGACTTCAGAAAATGTAAGTGACTTGACAAGTTGCATTCCCTTAGTCATTCAGCTGCCTTCCTGGAACACATAAGCAAACAATCCTCAAT... |
Task1_train_25897 | Chromosome 18 houses a mutation in gene LAMA3 (laminin subunit alpha 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Junctional epidermolysis bullosa | ATTTATAAACACACTTATTTTAGTCCTCTCATTTCATTCCCCTTGATTCAACTCTTGGAAGATCCTGGAGGAGACCCTGATTTAGAAAGCAGGAATGTGGGATTCTGCACAAAACAGACTGCGTGCCTGGCTCCCGATGCGTGCCCAGAGCAAACTCAATCATTTTGCTTGTTTAAAGTCTTGCCATGCATGGAACTATTACAGTTGGCTGGCCCTTGCAGCAGGCTGTAGGCCTCCACCAGTAGCTTTGCCTTCCACATCTCACATATCCTTCCATACAGAGCCACTGTCACGCATTAATTGCTAAGGAGGATTCCAAT... | ATTTATAAACACACTTATTTTAGTCCTCTCATTTCATTCCCCTTGATTCAACTCTTGGAAGATCCTGGAGGAGACCCTGATTTAGAAAGCAGGAATGTGGGATTCTGCACAAAACAGACTGCGTGCCTGGCTCCCGATGCGTGCCCAGAGCAAACTCAATCATTTTGCTTGTTTAAAGTCTTGCCATGCATGGAACTATTACAGTTGGCTGGCCCTTGCAGCAGGCTGTAGGCCTCCACCAGTAGCTTTGCCTTCCACATCTCACATATCCTTCCATACAGAGCCACTGTCACGCATTAATTGCTAAGGAGGATTCCAAT... |
Task1_train_25898 | This mutation is located in gene KCTD1 (potassium channel tetramerization domain containing 1) on Chromosome 18. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Scalp-ear-nipple syndrome | CTGAATGTCTTTGCAAATGTTTATTGCCAATTTCTGTTTTTTTCTTTGGGAAAATTTTGTTCATAGCTAAAAAAATTTTTCCACTGGGTTGTTTGTATGTTTCTCATAGATTTTTAAGATAGATCTTTTATGATGGGTATTCATCTTTTGTTGCAAATGTTTCTTATGGTCTGACACTTGTCTTGTATTTGTATATGATGTCTTCAATTCAACTATTTTTTTTAAAGGATAGCTTCTGGGTATGAAGTCTCATTTAGACAGGCCCCTTCTGCCTCAAAATTATACTTTTAGAAATTTCTTTGTATTTTTTCATAATACTT... | CTGAATGTCTTTGCAAATGTTTATTGCCAATTTCTGTTTTTTTCTTTGGGAAAATTTTGTTCATAGCTAAAAAAATTTTTCCACTGGGTTGTTTGTATGTTTCTCATAGATTTTTAAGATAGATCTTTTATGATGGGTATTCATCTTTTGTTGCAAATGTTTCTTATGGTCTGACACTTGTCTTGTATTTGTATATGATGTCTTCAATTCAACTATTTTTTTTAAAGGATAGCTTCTGGGTATGAAGTCTCATTTAGACAGGCCCCTTCTGCCTCAAAATTATACTTTTAGAAATTTCTTTGTATTTTTTCATAATACTT... |
Task1_train_25899 | This mutation occurs in KCTD1 (potassium channel tetramerization domain containing 1) on Chromosome 18. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Scalp-ear-nipple syndrome | AAATGTTTATTGCCAATTTCTGTTTTTTTCTTTGGGAAAATTTTGTTCATAGCTAAAAAAATTTTTCCACTGGGTTGTTTGTATGTTTCTCATAGATTTTTAAGATAGATCTTTTATGATGGGTATTCATCTTTTGTTGCAAATGTTTCTTATGGTCTGACACTTGTCTTGTATTTGTATATGATGTCTTCAATTCAACTATTTTTTTTAAAGGATAGCTTCTGGGTATGAAGTCTCATTTAGACAGGCCCCTTCTGCCTCAAAATTATACTTTTAGAAATTTCTTTGTATTTTTTCATAATACTTTTATTGCCCTCGTT... | AAATGTTTATTGCCAATTTCTGTTTTTTTCTTTGGGAAAATTTTGTTCATAGCTAAAAAAATTTTTCCACTGGGTTGTTTGTATGTTTCTCATAGATTTTTAAGATAGATCTTTTATGATGGGTATTCATCTTTTGTTGCAAATGTTTCTTATGGTCTGACACTTGTCTTGTATTTGTATATGATGTCTTCAATTCAACTATTTTTTTTAAAGGATAGCTTCTGGGTATGAAGTCTCATTTAGACAGGCCCCTTCTGCCTCAAAATTATACTTTTAGAAATTTCTTTGTATTTTTTCATAATACTTTTATTGCCCTCGTT... |
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