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_29800 | The following genetic variant occurs in EBP (EBP cholestenol delta-isomerase) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | AGTGGTTGCCATGTAACTGTTCACTATTATTATCATTATTTGCACTTTTCCCTTTTTACACAAATGGTAATATGCTATATATACTTCTAATCTTTTCTCTTTTTCTTTCTTTCCTTACAAGAAAACCAAAGAAGCCATTTTCTTTTTTGAGACGGGGTCTCGCTCTGTCACCCAGGCTAGAGTGCAGTGGCATGATTATAGCTCACTGCAACCTTGAACTCCTGGGCAATCAAGCAATCCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCATGTGCCACCCCACCAAGTTATTTTTTTTTTAACAACTTTTTT... | AGTGGTTGCCATGTAACTGTTCACTATTATTATCATTATTTGCACTTTTCCCTTTTTACACAAATGGTAATATGCTATATATACTTCTAATCTTTTCTCTTTTTCTTTCTTTCCTTACAAGAAAACCAAAGAAGCCATTTTCTTTTTTGAGACGGGGTCTCGCTCTGTCACCCAGGCTAGAGTGCAGTGGCATGATTATAGCTCACTGCAACCTTGAACTCCTGGGCAATCAAGCAATCCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCATGTGCCACCCCACCAAGTTATTTTTTTTTTAACAACTTTTTT... |
Task1_train_29801 | This sequence change occurs on Chromosome X, altering WAS (WASP actin nucleation promoting factor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Wiskott-Aldrich syndrome | GTTCTGAACCTAGGTTCAGGAGAGAGGCTTTGAACCTGCACGTGTGGGAAGCCATGGAAGTTTCCAGGAAGGACTGCAGGTCCCAACTGGAGATGTGCCGTTCCTCCTTCAGGTACCTGGGAATGTCAGTCACACCCCAGACCTGCTCAGCTCCCCCAAACTGCTGTTCCTGTATCTGAGAGCTTCAAGTCTCCAAATGGCCTACCTCATACATGGGGAAACTGAGGCCTGGGGAGGCCGGGGACTGAGCTAGCATTCACTTGTGGAAATAGTCTGGCATCATCTGGAGAAGTTAGAGACATGCAAACCCTACAGCCCTC... | GTTCTGAACCTAGGTTCAGGAGAGAGGCTTTGAACCTGCACGTGTGGGAAGCCATGGAAGTTTCCAGGAAGGACTGCAGGTCCCAACTGGAGATGTGCCGTTCCTCCTTCAGGTACCTGGGAATGTCAGTCACACCCCAGACCTGCTCAGCTCCCCCAAACTGCTGTTCCTGTATCTGAGAGCTTCAAGTCTCCAAATGGCCTACCTCATACATGGGGAAACTGAGGCCTGGGGAGGCCGGGGACTGAGCTAGCATTCACTTGTGGAAATAGTCTGGCATCATCTGGAGAAGTTAGAGACATGCAAACCCTACAGCCCTC... |
Task1_train_29802 | With a mutation on Chromosome X in gene WAS (WASP actin nucleation promoting factor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Wiskott-Aldrich syndrome | TTACAGGAGAATATGGACACCCAGGCTGCACATGCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACA... | TTACAGGAGAATATGGACACCCAGGCTGCACATGCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACA... |
Task1_train_29803 | A variant on Chromosome X in gene WAS (WASP actin nucleation promoting factor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Thrombocytopenia 1 | TTACAGGAGAATATGGACACCCAGGCTGCACATGCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACA... | TTACAGGAGAATATGGACACCCAGGCTGCACATGCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACA... |
Task1_train_29804 | Chromosome X houses a mutation in gene WAS (WASP actin nucleation promoting factor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Wiskott-Aldrich syndrome | TTACAGGAGAATATGGACACCCAGGCTGCACATGCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACA... | TTACAGGAGAATATGGACACCCAGGCTGCACATGCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACA... |
Task1_train_29805 | This genomic variant is located on Chromosome X, within the WAS (WASP actin nucleation promoting factor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; X-linked severe congenital neutropenia | TTACAGGAGAATATGGACACCCAGGCTGCACATGCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACA... | TTACAGGAGAATATGGACACCCAGGCTGCACATGCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACA... |
Task1_train_29806 | Located on Chromosome X, this mutation impacts WAS (WASP actin nucleation promoting factor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Thrombocytopenia 1 | TTACAGGAGAATATGGACACCCAGGCTGCACATGCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACA... | TTACAGGAGAATATGGACACCCAGGCTGCACATGCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACA... |
Task1_train_29807 | This variant affects the gene WAS (WASP actin nucleation promoting factor) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Thrombocytopenia | TTACAGGAGAATATGGACACCCAGGCTGCACATGCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACA... | TTACAGGAGAATATGGACACCCAGGCTGCACATGCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACA... |
Task1_train_29808 | The gene WAS (WASP actin nucleation promoting factor), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; X-linked severe congenital neutropenia | GCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAA... | GCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAA... |
Task1_train_29809 | A mutation in WAS (WASP actin nucleation promoting factor), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Wiskott-Aldrich syndrome | GCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAA... | GCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAA... |
Task1_train_29810 | A variant has been detected on Chromosome X in WAS (WASP actin nucleation promoting factor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Thrombocytopenia 1 | GCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAA... | GCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAA... |
Task1_train_29811 | The gene WAS (WASP actin nucleation promoting factor) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Thrombocytopenia 1 | GCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAA... | GCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAA... |
Task1_train_29812 | A sequence alteration has been identified in WAS (WASP actin nucleation promoting factor) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Thrombocytopenia 1 | CCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCC... | CCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCC... |
Task1_train_29813 | This variant affects the gene WAS (WASP actin nucleation promoting factor) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Wiskott-Aldrich syndrome | CCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCC... | CCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCC... |
Task1_train_29814 | The gene WAS (WASP actin nucleation promoting factor) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; X-linked severe congenital neutropenia | CCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCC... | CCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCC... |
Task1_train_29815 | This variant impacts the gene WAS (WASP actin nucleation promoting factor) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; THROMBOCYTOPENIA, X-LINKED, INTERMITTENT | CATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCT... | CATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCT... |
Task1_train_29816 | A mutation on Chromosome X affecting WAS (WASP actin nucleation promoting factor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; X-linked severe congenital neutropenia | CAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGAT... | CAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGAT... |
Task1_train_29817 | The gene WAS (WASP actin nucleation promoting factor) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Thrombocytopenia 1 | CAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCT... | CAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCT... |
Task1_train_29818 | This variant lies on Chromosome X and affects the gene WAS (WASP actin nucleation promoting factor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; X-linked severe congenital neutropenia | CAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCT... | CAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCT... |
Task1_train_29819 | Assess the clinical impact of this variant on gene WAS (WASP actin nucleation promoting factor), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Thrombocytopenia 1 | CAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCT... | CAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCT... |
Task1_train_29820 | The following genetic variant occurs in WAS (WASP actin nucleation promoting factor) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Wiskott-Aldrich syndrome | CAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCT... | CAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCT... |
Task1_train_29821 | A variant on Chromosome X in gene WAS (WASP actin nucleation promoting factor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Wiskott-Aldrich syndrome | GGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACG... | GGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACG... |
Task1_train_29822 | A change on Chromosome X affects gene WAS (WASP actin nucleation promoting factor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; X-linked severe congenital neutropenia | GGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACG... | GGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACG... |
Task1_train_29823 | This sequence change occurs on Chromosome X, altering WAS (WASP actin nucleation promoting factor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Thrombocytopenia 1 | GGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACG... | GGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACG... |
Task1_train_29824 | This is a variant in WAS (WASP actin nucleation promoting factor), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Wiskott-Aldrich syndrome | GGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACG... | GGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACG... |
Task1_train_29825 | Here is a genetic alteration in WAS (WASP actin nucleation promoting factor) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Wiskott-Aldrich syndrome | GCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGA... | GCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGA... |
Task1_train_29826 | This alteration in WAS (WASP actin nucleation promoting factor) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; X-linked severe congenital neutropenia | GCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGA... | GCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGA... |
Task1_train_29827 | This sequence change occurs on Chromosome X, altering WAS (WASP actin nucleation promoting factor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Thrombocytopenia 1 | GCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGA... | GCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGA... |
Task1_train_29828 | A variant on Chromosome X in gene WAS (WASP actin nucleation promoting factor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Wiskott-Aldrich syndrome | GCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGA... | GCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGA... |
Task1_train_29829 | A variant has been detected on Chromosome X in WAS (WASP actin nucleation promoting factor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Wiskott-Aldrich syndrome | GCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGA... | GCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGA... |
Task1_train_29830 | The gene WAS (WASP actin nucleation promoting factor) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; X-linked severe congenital neutropenia | CCAGAGGGAGGAGGGTCTGAGCCAGTCAGAAGGAGATGGGCCCCAGAGAGTAAGAAAGGGGGAGGAGGACCCAAGCTGATCCAAAAGGTGGGTCTAAGCAGTCAAGTGGAGGAGGGTTCCAATCTGATGGCGGAGGGCCCAAGCTCAGCCTAACGAGGAGGCCAGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGG... | CCAGAGGGAGGAGGGTCTGAGCCAGTCAGAAGGAGATGGGCCCCAGAGAGTAAGAAAGGGGGAGGAGGACCCAAGCTGATCCAAAAGGTGGGTCTAAGCAGTCAAGTGGAGGAGGGTTCCAATCTGATGGCGGAGGGCCCAAGCTCAGCCTAACGAGGAGGCCAGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGG... |
Task1_train_29831 | Gene WAS (WASP actin nucleation promoting factor), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Thrombocytopenia 1 | CCAGAGGGAGGAGGGTCTGAGCCAGTCAGAAGGAGATGGGCCCCAGAGAGTAAGAAAGGGGGAGGAGGACCCAAGCTGATCCAAAAGGTGGGTCTAAGCAGTCAAGTGGAGGAGGGTTCCAATCTGATGGCGGAGGGCCCAAGCTCAGCCTAACGAGGAGGCCAGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGG... | CCAGAGGGAGGAGGGTCTGAGCCAGTCAGAAGGAGATGGGCCCCAGAGAGTAAGAAAGGGGGAGGAGGACCCAAGCTGATCCAAAAGGTGGGTCTAAGCAGTCAAGTGGAGGAGGGTTCCAATCTGATGGCGGAGGGCCCAAGCTCAGCCTAACGAGGAGGCCAGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGG... |
Task1_train_29832 | A mutation in WAS (WASP actin nucleation promoting factor), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Wiskott-Aldrich syndrome | CCAGAGGGAGGAGGGTCTGAGCCAGTCAGAAGGAGATGGGCCCCAGAGAGTAAGAAAGGGGGAGGAGGACCCAAGCTGATCCAAAAGGTGGGTCTAAGCAGTCAAGTGGAGGAGGGTTCCAATCTGATGGCGGAGGGCCCAAGCTCAGCCTAACGAGGAGGCCAGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGG... | CCAGAGGGAGGAGGGTCTGAGCCAGTCAGAAGGAGATGGGCCCCAGAGAGTAAGAAAGGGGGAGGAGGACCCAAGCTGATCCAAAAGGTGGGTCTAAGCAGTCAAGTGGAGGAGGGTTCCAATCTGATGGCGGAGGGCCCAAGCTCAGCCTAACGAGGAGGCCAGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGG... |
Task1_train_29833 | A mutation found in WAS (WASP actin nucleation promoting factor) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | CAGAGGGAGGAGGGTCTGAGCCAGTCAGAAGGAGATGGGCCCCAGAGAGTAAGAAAGGGGGAGGAGGACCCAAGCTGATCCAAAAGGTGGGTCTAAGCAGTCAAGTGGAGGAGGGTTCCAATCTGATGGCGGAGGGCCCAAGCTCAGCCTAACGAGGAGGCCAGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGG... | CAGAGGGAGGAGGGTCTGAGCCAGTCAGAAGGAGATGGGCCCCAGAGAGTAAGAAAGGGGGAGGAGGACCCAAGCTGATCCAAAAGGTGGGTCTAAGCAGTCAAGTGGAGGAGGGTTCCAATCTGATGGCGGAGGGCCCAAGCTCAGCCTAACGAGGAGGCCAGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGG... |
Task1_train_29834 | Here is a variant affecting WAS (WASP actin nucleation promoting factor) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Thrombocytopenia 1 | AGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTT... | AGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTT... |
Task1_train_29835 | Mutation context: Chromosome X, Gene WAS (WASP actin nucleation promoting factor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Wiskott-Aldrich syndrome | AGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTT... | AGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTT... |
Task1_train_29836 | Here’s a variant in WAS (WASP actin nucleation promoting factor) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; X-linked severe congenital neutropenia | AGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTT... | AGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTT... |
Task1_train_29837 | This alteration occurs within gene WAS (WASP actin nucleation promoting factor) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; X-linked severe congenital neutropenia | TGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTC... | TGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTC... |
Task1_train_29838 | A mutation found in WAS (WASP actin nucleation promoting factor) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Thrombocytopenia 1 | TGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTC... | TGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTC... |
Task1_train_29839 | This sequence change occurs on Chromosome X, altering WAS (WASP actin nucleation promoting factor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Wiskott-Aldrich syndrome | TGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTC... | TGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTC... |
Task1_train_29840 | This is a variant in WAS (WASP actin nucleation promoting factor), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Thrombocytopenia 1 | TTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTCCTTCTCTCTCTT... | TTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTCCTTCTCTCTCTT... |
Task1_train_29841 | Here is a genetic alteration in WAS (WASP actin nucleation promoting factor) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Thrombocytopenia 1 | CACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTAC... | CACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTAC... |
Task1_train_29842 | A variant has been detected on Chromosome X in WAS (WASP actin nucleation promoting factor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; X-linked severe congenital neutropenia | TGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATGGGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTGAATGAATGAACAGTGAATAAATGACTAAATGACAAGTTTCAGTCAGTGAAGAAAGCATGATTGAATGAATAAATGAGTAAATGAATATTTTAACAAATTCATTAGTCAATGAGCCAGTGAATGATAAAGCATGAGGGAATGAAAACATGAATGAATCAGTGAATGTATGAA... | TGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATGGGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTGAATGAATGAACAGTGAATAAATGACTAAATGACAAGTTTCAGTCAGTGAAGAAAGCATGATTGAATGAATAAATGAGTAAATGAATATTTTAACAAATTCATTAGTCAATGAGCCAGTGAATGATAAAGCATGAGGGAATGAAAACATGAATGAATCAGTGAATGTATGAA... |
Task1_train_29843 | With a mutation on Chromosome X in gene WAS (WASP actin nucleation promoting factor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Wiskott-Aldrich syndrome | TGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATGGGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTGAATGAATGAACAGTGAATAAATGACTAAATGACAAGTTTCAGTCAGTGAAGAAAGCATGATTGAATGAATAAATGAGTAAATGAATATTTTAACAAATTCATTAGTCAATGAGCCAGTGAATGATAAAGCATGAGGGAATGAAAACATGAATGAATCAGTGAATGTATGAA... | TGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATGGGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTGAATGAATGAACAGTGAATAAATGACTAAATGACAAGTTTCAGTCAGTGAAGAAAGCATGATTGAATGAATAAATGAGTAAATGAATATTTTAACAAATTCATTAGTCAATGAGCCAGTGAATGATAAAGCATGAGGGAATGAAAACATGAATGAATCAGTGAATGTATGAA... |
Task1_train_29844 | This alteration occurs within gene WAS (WASP actin nucleation promoting factor) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Thrombocytopenia 1 | TGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATGGGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTGAATGAATGAACAGTGAATAAATGACTAAATGACAAGTTTCAGTCAGTGAAGAAAGCATGATTGAATGAATAAATGAGTAAATGAATATTTTAACAAATTCATTAGTCAATGAGCCAGTGAATGATAAAGCATGAGGGAATGAAAACATGAATGAATCAGTGAATGTATGAA... | TGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATGGGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTGAATGAATGAACAGTGAATAAATGACTAAATGACAAGTTTCAGTCAGTGAAGAAAGCATGATTGAATGAATAAATGAGTAAATGAATATTTTAACAAATTCATTAGTCAATGAGCCAGTGAATGATAAAGCATGAGGGAATGAAAACATGAATGAATCAGTGAATGTATGAA... |
Task1_train_29845 | Gene WAS (WASP actin nucleation promoting factor) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; THROMBOCYTOPENIA, X-LINKED, INTERMITTENT | GGATGGATGGATAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGAT... | GGATGGATGGATAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGAT... |
Task1_train_29846 | Given a variant located on Chromosome X and affecting WAS (WASP actin nucleation promoting factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Wiskott-Aldrich syndrome | TAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTG... | TAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTG... |
Task1_train_29847 | This alteration in WAS (WASP actin nucleation promoting factor) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; X-linked severe congenital neutropenia | TAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTG... | TAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTG... |
Task1_train_29848 | Gene WAS (WASP actin nucleation promoting factor) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Thrombocytopenia 1 | TAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTG... | TAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTG... |
Task1_train_29849 | Gene WAS (WASP actin nucleation promoting factor), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Wiskott-Aldrich syndrome | TAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTG... | TAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTG... |
Task1_train_29850 | The variant affects gene GATA1 (GATA binding protein 1), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis | GTGGGAGGCCGAGGTGGGCCGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTTTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCTGGGGTTGCAGTGAGCTGAGATCGCACCACTGCACACCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAGAAAAAGCACAGAAGGAGAAGACAAGCTATATCATAGAAACACAGAAAGCTGGG... | GTGGGAGGCCGAGGTGGGCCGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTTTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCTGGGGTTGCAGTGAGCTGAGATCGCACCACTGCACACCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAGAAAAAGCACAGAAGGAGAAGACAAGCTATATCATAGAAACACAGAAAGCTGGG... |
Task1_train_29851 | The gene GATA1 (GATA binding protein 1), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Diamond-Blackfan anemia | GTGGGAGGCCGAGGTGGGCCGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTTTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCTGGGGTTGCAGTGAGCTGAGATCGCACCACTGCACACCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAGAAAAAGCACAGAAGGAGAAGACAAGCTATATCATAGAAACACAGAAAGCTGGG... | GTGGGAGGCCGAGGTGGGCCGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTTTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCTGGGGTTGCAGTGAGCTGAGATCGCACCACTGCACACCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAGAAAAAGCACAGAAGGAGAAGACAAGCTATATCATAGAAACACAGAAAGCTGGG... |
Task1_train_29852 | A variant was discovered in gene GATA1 (GATA binding protein 1), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis | TGGGAGGCCGAGGTGGGCCGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTTTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCTGGGGTTGCAGTGAGCTGAGATCGCACCACTGCACACCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAGAAAAAGCACAGAAGGAGAAGACAAGCTATATCATAGAAACACAGAAAGCTGGGG... | TGGGAGGCCGAGGTGGGCCGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTTTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCTGGGGTTGCAGTGAGCTGAGATCGCACCACTGCACACCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAGAAAAAGCACAGAAGGAGAAGACAAGCTATATCATAGAAACACAGAAAGCTGGGG... |
Task1_train_29853 | This gene mutation involves GATA1 (GATA binding protein 1) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Diamond-Blackfan anemia | TGGGAGGCCGAGGTGGGCCGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTTTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCTGGGGTTGCAGTGAGCTGAGATCGCACCACTGCACACCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAGAAAAAGCACAGAAGGAGAAGACAAGCTATATCATAGAAACACAGAAAGCTGGGG... | TGGGAGGCCGAGGTGGGCCGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTTTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCTGGGGTTGCAGTGAGCTGAGATCGCACCACTGCACACCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAGAAAAAGCACAGAAGGAGAAGACAAGCTATATCATAGAAACACAGAAAGCTGGGG... |
Task1_train_29854 | Here is a genetic alteration in GATA1 (GATA binding protein 1) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Diamond-Blackfan anemia | TGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAGAAAAAGCACAGAAGGAGAAGACAAGCTATATCATAGAAACACAGAAAGCTGGGGAAGCTACAGAGTCAGACTTGAGAGGGAACAGAGAGTCAGGGGAAAGAGCCCCAGGGGATAGAGAAGTGGAGAGCTAGATGACAGACACACACAAGGCAAAACAGGCAAAGGGCCATCCCACAGGTCTCAGCTCAGCCCCAGCCCATCACCACCCCCAATACAGCAGATGGGGAAACTGAGGCCTGGGAACTGAAAGAGCCTGAAAGCAGAACTCTGG... | TGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAGAAAAAGCACAGAAGGAGAAGACAAGCTATATCATAGAAACACAGAAAGCTGGGGAAGCTACAGAGTCAGACTTGAGAGGGAACAGAGAGTCAGGGGAAAGAGCCCCAGGGGATAGAGAAGTGGAGAGCTAGATGACAGACACACACAAGGCAAAACAGGCAAAGGGCCATCCCACAGGTCTCAGCTCAGCCCCAGCCCATCACCACCCCCAATACAGCAGATGGGGAAACTGAGGCCTGGGAACTGAAAGAGCCTGAAAGCAGAACTCTGG... |
Task1_train_29855 | Chromosome X houses a mutation in gene GATA1 (GATA binding protein 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis | TGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAGAAAAAGCACAGAAGGAGAAGACAAGCTATATCATAGAAACACAGAAAGCTGGGGAAGCTACAGAGTCAGACTTGAGAGGGAACAGAGAGTCAGGGGAAAGAGCCCCAGGGGATAGAGAAGTGGAGAGCTAGATGACAGACACACACAAGGCAAAACAGGCAAAGGGCCATCCCACAGGTCTCAGCTCAGCCCCAGCCCATCACCACCCCCAATACAGCAGATGGGGAAACTGAGGCCTGGGAACTGAAAGAGCCTGAAAGCAGAACTCTGG... | TGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAGAAAAAGCACAGAAGGAGAAGACAAGCTATATCATAGAAACACAGAAAGCTGGGGAAGCTACAGAGTCAGACTTGAGAGGGAACAGAGAGTCAGGGGAAAGAGCCCCAGGGGATAGAGAAGTGGAGAGCTAGATGACAGACACACACAAGGCAAAACAGGCAAAGGGCCATCCCACAGGTCTCAGCTCAGCCCCAGCCCATCACCACCCCCAATACAGCAGATGGGGAAACTGAGGCCTGGGAACTGAAAGAGCCTGAAAGCAGAACTCTGG... |
Task1_train_29856 | This variant impacts the gene GATA1 (GATA binding protein 1) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Thrombocytopenia, X-linked, with dyserythropoietic anemia | CAAAAAAAAAACAAAAACTAGCCAGGCCTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTGCCGGGAGGCAGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGGAGACCCTGCCTCAAAAAAAAGTGTGTGTGGATGGGGGAGAGGGAGATAAGGTGTGTGAGAAAGGTAGAAAAGGAGAATGAAGACAAAAAGAGAAGGAGGACAAGGAAGAGGGGAAACAGGAAAGGAGAAGGAGGAGGTCAAGGAGGAAAAGAAGAAGGTGGAGGAGAAAAAG... | CAAAAAAAAAACAAAAACTAGCCAGGCCTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTGCCGGGAGGCAGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGGAGACCCTGCCTCAAAAAAAAGTGTGTGTGGATGGGGGAGAGGGAGATAAGGTGTGTGAGAAAGGTAGAAAAGGAGAATGAAGACAAAAAGAGAAGGAGGACAAGGAAGAGGGGAAACAGGAAAGGAGAAGGAGGAGGTCAAGGAGGAAAAGAAGAAGGTGGAGGAGAAAAAG... |
Task1_train_29857 | This variant affects the gene GATA1 (GATA binding protein 1) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Diamond-Blackfan anemia | AACAAAAACTAGCCAGGCCTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTGCCGGGAGGCAGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGGAGACCCTGCCTCAAAAAAAAGTGTGTGTGGATGGGGGAGAGGGAGATAAGGTGTGTGAGAAAGGTAGAAAAGGAGAATGAAGACAAAAAGAGAAGGAGGACAAGGAAGAGGGGAAACAGGAAAGGAGAAGGAGGAGGTCAAGGAGGAAAAGAAGAAGGTGGAGGAGAAAAAGGAAGCAGGA... | AACAAAAACTAGCCAGGCCTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTGCCGGGAGGCAGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGGAGACCCTGCCTCAAAAAAAAGTGTGTGTGGATGGGGGAGAGGGAGATAAGGTGTGTGAGAAAGGTAGAAAAGGAGAATGAAGACAAAAAGAGAAGGAGGACAAGGAAGAGGGGAAACAGGAAAGGAGAAGGAGGAGGTCAAGGAGGAAAAGAAGAAGGTGGAGGAGAAAAAGGAAGCAGGA... |
Task1_train_29858 | Gene GATA1 (GATA binding protein 1) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis | AACAAAAACTAGCCAGGCCTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTGCCGGGAGGCAGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGGAGACCCTGCCTCAAAAAAAAGTGTGTGTGGATGGGGGAGAGGGAGATAAGGTGTGTGAGAAAGGTAGAAAAGGAGAATGAAGACAAAAAGAGAAGGAGGACAAGGAAGAGGGGAAACAGGAAAGGAGAAGGAGGAGGTCAAGGAGGAAAAGAAGAAGGTGGAGGAGAAAAAGGAAGCAGGA... | AACAAAAACTAGCCAGGCCTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTGCCGGGAGGCAGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGGAGACCCTGCCTCAAAAAAAAGTGTGTGTGGATGGGGGAGAGGGAGATAAGGTGTGTGAGAAAGGTAGAAAAGGAGAATGAAGACAAAAAGAGAAGGAGGACAAGGAAGAGGGGAAACAGGAAAGGAGAAGGAGGAGGTCAAGGAGGAAAAGAAGAAGGTGGAGGAGAAAAAGGAAGCAGGA... |
Task1_train_29859 | This sequence change occurs on Chromosome X, altering GATA1 (GATA binding protein 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis | CACACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTGCCGGGAGGCAGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGGAGACCCTGCCTCAAAAAAAAGTGTGTGTGGATGGGGGAGAGGGAGATAAGGTGTGTGAGAAAGGTAGAAAAGGAGAATGAAGACAAAAAGAGAAGGAGGACAAGGAAGAGGGGAAACAGGAAAGGAGAAGGAGGAGGTCAAGGAGGAAAAGAAGAAGGTGGAGGAGAAAAAGGAAGCAGGAGAGAATGAGAAAAGAGTGGAAAGAG... | CACACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTGCCGGGAGGCAGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGGAGACCCTGCCTCAAAAAAAAGTGTGTGTGGATGGGGGAGAGGGAGATAAGGTGTGTGAGAAAGGTAGAAAAGGAGAATGAAGACAAAAAGAGAAGGAGGACAAGGAAGAGGGGAAACAGGAAAGGAGAAGGAGGAGGTCAAGGAGGAAAAGAAGAAGGTGGAGGAGAAAAAGGAAGCAGGAGAGAATGAGAAAAGAGTGGAAAGAG... |
Task1_train_29860 | With a mutation on Chromosome X in gene GATA1 (GATA binding protein 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Diamond-Blackfan anemia | CACACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTGCCGGGAGGCAGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGGAGACCCTGCCTCAAAAAAAAGTGTGTGTGGATGGGGGAGAGGGAGATAAGGTGTGTGAGAAAGGTAGAAAAGGAGAATGAAGACAAAAAGAGAAGGAGGACAAGGAAGAGGGGAAACAGGAAAGGAGAAGGAGGAGGTCAAGGAGGAAAAGAAGAAGGTGGAGGAGAAAAAGGAAGCAGGAGAGAATGAGAAAAGAGTGGAAAGAG... | CACACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTGCCGGGAGGCAGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGGAGACCCTGCCTCAAAAAAAAGTGTGTGTGGATGGGGGAGAGGGAGATAAGGTGTGTGAGAAAGGTAGAAAAGGAGAATGAAGACAAAAAGAGAAGGAGGACAAGGAAGAGGGGAAACAGGAAAGGAGAAGGAGGAGGTCAAGGAGGAAAAGAAGAAGGTGGAGGAGAAAAAGGAAGCAGGAGAGAATGAGAAAAGAGTGGAAAGAG... |
Task1_train_29861 | A change on Chromosome X affects gene GATA1 (GATA binding protein 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; X-linked dyserythropoetic anemia with abnormal platelets and neutropenia | CACACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTGCCGGGAGGCAGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGGAGACCCTGCCTCAAAAAAAAGTGTGTGTGGATGGGGGAGAGGGAGATAAGGTGTGTGAGAAAGGTAGAAAAGGAGAATGAAGACAAAAAGAGAAGGAGGACAAGGAAGAGGGGAAACAGGAAAGGAGAAGGAGGAGGTCAAGGAGGAAAAGAAGAAGGTGGAGGAGAAAAAGGAAGCAGGAGAGAATGAGAAAAGAGTGGAAAGAG... | CACACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTGCCGGGAGGCAGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGGAGACCCTGCCTCAAAAAAAAGTGTGTGTGGATGGGGGAGAGGGAGATAAGGTGTGTGAGAAAGGTAGAAAAGGAGAATGAAGACAAAAAGAGAAGGAGGACAAGGAAGAGGGGAAACAGGAAAGGAGAAGGAGGAGGTCAAGGAGGAAAAGAAGAAGGTGGAGGAGAAAAAGGAAGCAGGAGAGAATGAGAAAAGAGTGGAAAGAG... |
Task1_train_29862 | This variant affects gene GATA1 (GATA binding protein 1) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | CACACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTGCCGGGAGGCAGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGGAGACCCTGCCTCAAAAAAAAGTGTGTGTGGATGGGGGAGAGGGAGATAAGGTGTGTGAGAAAGGTAGAAAAGGAGAATGAAGACAAAAAGAGAAGGAGGACAAGGAAGAGGGGAAACAGGAAAGGAGAAGGAGGAGGTCAAGGAGGAAAAGAAGAAGGTGGAGGAGAAAAAGGAAGCAGGAGAGAATGAGAAAAGAGTGGAAAGAG... | CACACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTGCCGGGAGGCAGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGGAGACCCTGCCTCAAAAAAAAGTGTGTGTGGATGGGGGAGAGGGAGATAAGGTGTGTGAGAAAGGTAGAAAAGGAGAATGAAGACAAAAAGAGAAGGAGGACAAGGAAGAGGGGAAACAGGAAAGGAGAAGGAGGAGGTCAAGGAGGAAAAGAAGAAGGTGGAGGAGAAAAAGGAAGCAGGAGAGAATGAGAAAAGAGTGGAAAGAG... |
Task1_train_29863 | This is a variant in GATA1 (GATA binding protein 1), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Thrombocytopenia, X-linked, with dyserythropoietic anemia | ACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTGCCGGGAGGCAGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGGAGACCCTGCCTCAAAAAAAAGTGTGTGTGGATGGGGGAGAGGGAGATAAGGTGTGTGAGAAAGGTAGAAAAGGAGAATGAAGACAAAAAGAGAAGGAGGACAAGGAAGAGGGGAAACAGGAAAGGAGAAGGAGGAGGTCAAGGAGGAAAAGAAGAAGGTGGAGGAGAAAAAGGAAGCAGGAGAGAATGAGAAAAGAGTGGAAAGAGAAGGA... | ACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTGCCGGGAGGCAGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGGAGACCCTGCCTCAAAAAAAAGTGTGTGTGGATGGGGGAGAGGGAGATAAGGTGTGTGAGAAAGGTAGAAAAGGAGAATGAAGACAAAAAGAGAAGGAGGACAAGGAAGAGGGGAAACAGGAAAGGAGAAGGAGGAGGTCAAGGAGGAAAAGAAGAAGGTGGAGGAGAAAAAGGAAGCAGGAGAGAATGAGAAAAGAGTGGAAAGAGAAGGA... |
Task1_train_29864 | The gene GATA1 (GATA binding protein 1) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | TTCCTCCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCACTGGCCTACTACAGGGACGCTGAGGCCTACAGACACTCCCCAGGTAACTCCATTGAGTGGCTGTCTTGGCATTGGCTGAGTGCTGTTGGGGTTGCCATGGAGATCCTTGGCTAGGTCAGAATACCACTGTGAGGATATCTCAGAAATGGCTGGAAGCTTCTCAAATGGATGTGCCGACCACTTTCCCTAGTTAAGTGCAGACCTGGGAATTCCAATGCTCCTCAACCTGCCATATTGGGGCGGCCACACTGAGAGGCAATACTGGAAGTATGTGGTG... | TTCCTCCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCACTGGCCTACTACAGGGACGCTGAGGCCTACAGACACTCCCCAGGTAACTCCATTGAGTGGCTGTCTTGGCATTGGCTGAGTGCTGTTGGGGTTGCCATGGAGATCCTTGGCTAGGTCAGAATACCACTGTGAGGATATCTCAGAAATGGCTGGAAGCTTCTCAAATGGATGTGCCGACCACTTTCCCTAGTTAAGTGCAGACCTGGGAATTCCAATGCTCCTCAACCTGCCATATTGGGGCGGCCACACTGAGAGGCAATACTGGAAGTATGTGGTG... |
Task1_train_29865 | The following genetic variant occurs in PQBP1 (polyglutamine binding protein 1) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Renpenning syndrome | AACTGACATCTATTACAAGCCTACTGTGTGCAAGGTATAGACCTTGTGGTTAATAAAATTGTCAATGATCCCAGGCCGGGCAGGGTGCCTCATGCCTGTAATCTCAGCGCTTTGGGAGGCGGAGGTGGACGGATCACGAGGTCAGGAGATCGAGACCATTCTGGCTAACAGGGTGAAACCCCATCTCTAATAAAAATACAAAAAACTTAGCCGGGCGTGGTGCCAGATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATCATGCCACTGC... | AACTGACATCTATTACAAGCCTACTGTGTGCAAGGTATAGACCTTGTGGTTAATAAAATTGTCAATGATCCCAGGCCGGGCAGGGTGCCTCATGCCTGTAATCTCAGCGCTTTGGGAGGCGGAGGTGGACGGATCACGAGGTCAGGAGATCGAGACCATTCTGGCTAACAGGGTGAAACCCCATCTCTAATAAAAATACAAAAAACTTAGCCGGGCGTGGTGCCAGATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATCATGCCACTGC... |
Task1_train_29866 | A variant on Chromosome X in gene SLC35A2 (solute carrier family 35 member A2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; SLC35A2-congenital disorder of glycosylation | CAGGTGGGCTGTGTCCGCCACATCACCCATCCCCATCCCCTGACTCTTTCACCGGCAGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGAAGCTTCGGCCTCCCTGGCCCTGGGTTAAAATAAAAGCTTTCTGGTGATCCTGCCCACCATACCTGAGTGCTTCCTTTGAGGCTGCCCAACCCAAGTCGGCAAGAT... | CAGGTGGGCTGTGTCCGCCACATCACCCATCCCCATCCCCTGACTCTTTCACCGGCAGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGAAGCTTCGGCCTCCCTGGCCCTGGGTTAAAATAAAAGCTTTCTGGTGATCCTGCCCACCATACCTGAGTGCTTCCTTTGAGGCTGCCCAACCCAAGTCGGCAAGAT... |
Task1_train_29867 | Chromosome X houses a mutation in gene SLC35A2 (solute carrier family 35 member A2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; SLC35A2-congenital disorder of glycosylation | AGAGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGG... | AGAGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGG... |
Task1_train_29868 | Gene SLC35A2 (solute carrier family 35 member A2) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; SLC35A2-congenital disorder of glycosylation | AGGTCAGGAGTTCGAGACCAGGCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTTTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCAGACAACAAGGGCAAAACTCCATTTCAAAACAAACAAACAAAAAACATGAGAATCATTTCCTATGTAACAAGGCCTTTGCAAAGCTCGCCCCACTTTTTGGCAGTTCATCTTTTTTTTTGGCGGGGCGGG... | AGGTCAGGAGTTCGAGACCAGGCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTTTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCAGACAACAAGGGCAAAACTCCATTTCAAAACAAACAAACAAAAAACATGAGAATCATTTCCTATGTAACAAGGCCTTTGCAAAGCTCGCCCCACTTTTTGGCAGTTCATCTTTTTTTTTGGCGGGGCGGG... |
Task1_train_29869 | This sequence variant lies in SLC35A2 (solute carrier family 35 member A2) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; SLC35A2-congenital disorder of glycosylation | CTGCTACTTTATAAGCATTGGCAATCTCACTCCTACAGCCCACACAGGCCGGCTACCCGGCTGTTAGGGCTAGAAAAGTGTAAGATGCCGCTACGCATAGCTGGAGTGGCGCTCCAGGCAGGTTGAGATTTGGAGACACTCCTGAAGCAAACCATCTGTGTGAACACACACACATACATGTGGAGTCTCACCCACCGACCCCAGTGCAGCCCCATCCCTGGTTCGTACCCCTCTTCTGTGCGAAGAGCAGCAGCAGGCAGGTGAGACCTTTGAGCACTTCCGCCATGACCACAGCAGTGGTGGCAAAGAAGCGGTCCCCT... | CTGCTACTTTATAAGCATTGGCAATCTCACTCCTACAGCCCACACAGGCCGGCTACCCGGCTGTTAGGGCTAGAAAAGTGTAAGATGCCGCTACGCATAGCTGGAGTGGCGCTCCAGGCAGGTTGAGATTTGGAGACACTCCTGAAGCAAACCATCTGTGTGAACACACACACATACATGTGGAGTCTCACCCACCGACCCCAGTGCAGCCCCATCCCTGGTTCGTACCCCTCTTCTGTGCGAAGAGCAGCAGCAGGCAGGTGAGACCTTTGAGCACTTCCGCCATGACCACAGCAGTGGTGGCAAAGAAGCGGTCCCCT... |
Task1_train_29870 | An alteration has been detected in SLC35A2 (solute carrier family 35 member A2) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; SLC35A2-congenital disorder of glycosylation | GCTACTTTATAAGCATTGGCAATCTCACTCCTACAGCCCACACAGGCCGGCTACCCGGCTGTTAGGGCTAGAAAAGTGTAAGATGCCGCTACGCATAGCTGGAGTGGCGCTCCAGGCAGGTTGAGATTTGGAGACACTCCTGAAGCAAACCATCTGTGTGAACACACACACATACATGTGGAGTCTCACCCACCGACCCCAGTGCAGCCCCATCCCTGGTTCGTACCCCTCTTCTGTGCGAAGAGCAGCAGCAGGCAGGTGAGACCTTTGAGCACTTCCGCCATGACCACAGCAGTGGTGGCAAAGAAGCGGTCCCCTGG... | GCTACTTTATAAGCATTGGCAATCTCACTCCTACAGCCCACACAGGCCGGCTACCCGGCTGTTAGGGCTAGAAAAGTGTAAGATGCCGCTACGCATAGCTGGAGTGGCGCTCCAGGCAGGTTGAGATTTGGAGACACTCCTGAAGCAAACCATCTGTGTGAACACACACACATACATGTGGAGTCTCACCCACCGACCCCAGTGCAGCCCCATCCCTGGTTCGTACCCCTCTTCTGTGCGAAGAGCAGCAGCAGGCAGGTGAGACCTTTGAGCACTTCCGCCATGACCACAGCAGTGGTGGCAAAGAAGCGGTCCCCTGG... |
Task1_train_29871 | Assess the clinical impact of this variant on gene OTUD5 (OTU deubiquitinase 5), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | ACTTCCACTAAACTCATGTTGCTACAAAGTATCAGTTGCACTTTTCCAAGGCTTTTCTTCATCAGATCATGATAAGGAAAGAGCAGCATTCATGGTGAGAGGCAGGCGGAGAAGCTGGAATTCAGGCAGGAAGTTCAAGCTCACAGTCCTCTGCTACCATCACCCCCCCCCCCCCAGGAAATAGGGTAGGCAGGGGTGGGGTCAGCAGGCAAAGACGCAGCTTTTCCAGTGGCAATAGGTCCAGAAGGAGGTTTAATAAGCAGCAAATCAAATACAAACTCCAGGCCCCCAGACAGACCCTGCTGGAGAGCATTCACACC... | ACTTCCACTAAACTCATGTTGCTACAAAGTATCAGTTGCACTTTTCCAAGGCTTTTCTTCATCAGATCATGATAAGGAAAGAGCAGCATTCATGGTGAGAGGCAGGCGGAGAAGCTGGAATTCAGGCAGGAAGTTCAAGCTCACAGTCCTCTGCTACCATCACCCCCCCCCCCCCAGGAAATAGGGTAGGCAGGGGTGGGGTCAGCAGGCAAAGACGCAGCTTTTCCAGTGGCAATAGGTCCAGAAGGAGGTTTAATAAGCAGCAAATCAAATACAAACTCCAGGCCCCCAGACAGACCCTGCTGGAGAGCATTCACACC... |
Task1_train_29872 | Gene OTUD5 (OTU deubiquitinase 5), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | AGGAGGTTTGGCAAGAGCTAAAACAGTGCCTGGGGAAGGGGGCTTCATGCCCAATTCAGCATGCAGCTCAGGGTGCTCAGGTGACGAGGCTGAACTCCGCTGCCGCGGGGACCGGCTAGTCCACTCCTCCAGGCCACTGGAGGCTGCTGCTGTGGCCGAACTGCATGTGGCGCTGGCTTTCCGGGGCTGCAGCGGGGAAGGTAAATGCGTTAAGGACCACCAGCAGCCATGACCTTCTTGTGACCCATCCCTGAATGCTGGCTCCCTTCCCAGGACCTTGGCTATGATACAGCTTCTATGTAGGTCAACATCATCCCCAC... | AGGAGGTTTGGCAAGAGCTAAAACAGTGCCTGGGGAAGGGGGCTTCATGCCCAATTCAGCATGCAGCTCAGGGTGCTCAGGTGACGAGGCTGAACTCCGCTGCCGCGGGGACCGGCTAGTCCACTCCTCCAGGCCACTGGAGGCTGCTGCTGTGGCCGAACTGCATGTGGCGCTGGCTTTCCGGGGCTGCAGCGGGGAAGGTAAATGCGTTAAGGACCACCAGCAGCCATGACCTTCTTGTGACCCATCCCTGAATGCTGGCTCCCTTCCCAGGACCTTGGCTATGATACAGCTTCTATGTAGGTCAACATCATCCCCAC... |
Task1_train_29873 | A genetic alteration is present in OTUD5 (OTU deubiquitinase 5) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | CTGCCTCGGCCTCCCAAGTAGCTCGGATTACAGGTGTGTGCCACCACACCCGGCTAATTTTTTTTTGTATTTTTAGTAGAAACAGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGAGATCCTCCCATCTCAGCCTCCCAGTGTTGGGATTACAGGCGTGAGCCACCGCACCTGGCCAGAACATTCATATTTTTGAAGAAAGAAAAAGAGGAAGCTGGGTGCAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCACAAGGATCACTTGAGCCCAAGAGTTCAAGGTCAGCCTCG... | CTGCCTCGGCCTCCCAAGTAGCTCGGATTACAGGTGTGTGCCACCACACCCGGCTAATTTTTTTTTGTATTTTTAGTAGAAACAGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGAGATCCTCCCATCTCAGCCTCCCAGTGTTGGGATTACAGGCGTGAGCCACCGCACCTGGCCAGAACATTCATATTTTTGAAGAAAGAAAAAGAGGAAGCTGGGTGCAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCACAAGGATCACTTGAGCCCAAGAGTTCAAGGTCAGCCTCG... |
Task1_train_29874 | Given a variant located on Chromosome X and affecting OTUD5 (OTU deubiquitinase 5), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Inborn genetic diseases | CGGCAATATAGTGAGACCTTGTCTCTACAAAAAAAAAAAATTTTTTTTCATTTTTTTACAAAAAGTTTTTTTAAAACACTGGCCGGGCATGGTGGCGAGCACCTGTAGTCTCCCAGCTACTCGGGAGGCTGAGGTGAGAGGCTTGCTTGAGCCAGGGAAGTGGAGGCTAGCTACAGTGAGCCTAGATTGCCCCACTGCACTCCAGCCTGGGTGAGAGAGTGAGACCCTGTCTCTCCACCCGCCCACCAAAAAAGAAAATGAGCCATTAAACCAGGACAAGTCACAGATGAATCTTAAATGCATAGTGTTAAGTGAAAAAA... | CGGCAATATAGTGAGACCTTGTCTCTACAAAAAAAAAAAATTTTTTTTCATTTTTTTACAAAAAGTTTTTTTAAAACACTGGCCGGGCATGGTGGCGAGCACCTGTAGTCTCCCAGCTACTCGGGAGGCTGAGGTGAGAGGCTTGCTTGAGCCAGGGAAGTGGAGGCTAGCTACAGTGAGCCTAGATTGCCCCACTGCACTCCAGCCTGGGTGAGAGAGTGAGACCCTGTCTCTCCACCCGCCCACCAAAAAAGAAAATGAGCCATTAAACCAGGACAAGTCACAGATGAATCTTAAATGCATAGTGTTAAGTGAAAAAA... |
Task1_train_29875 | Located on Chromosome X, this mutation impacts OTUD5 (OTU deubiquitinase 5). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | TACACACACACATACACACACACACACACACACACACACACACACACACAGAGAACAGCTAGCTAGATACACACACACACACACACACACACACACACACACACACGGCTCTTGATATGAGTTACTACACAAGCCAGGTCCTCACTAGCCAGTCCCAAGGCTTACCCTCAATGACTGCCCAAGACTCAGATGCCCGCTGCATTCTCTAATCCTAACTCCACCAGAAGCCCTGCTTACCCCACATCTAGCCTGAGGTCTCAACACAGGGCCTAGCACCTAACAGGCCCCCACCTATTCTTTCTTTGCCTTTCTTTTGTCCA... | TACACACACACATACACACACACACACACACACACACACACACACACACAGAGAACAGCTAGCTAGATACACACACACACACACACACACACACACACACACACACGGCTCTTGATATGAGTTACTACACAAGCCAGGTCCTCACTAGCCAGTCCCAAGGCTTACCCTCAATGACTGCCCAAGACTCAGATGCCCGCTGCATTCTCTAATCCTAACTCCACCAGAAGCCCTGCTTACCCCACATCTAGCCTGAGGTCTCAACACAGGGCCTAGCACCTAACAGGCCCCCACCTATTCTTTCTTTGCCTTTCTTTTGTCCA... |
Task1_train_29876 | This variant affects the gene TFE3 (transcription factor binding to IGHM enhancer 3) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | CGTGCTGGCGGGCACCTGTAATCTCGGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGGTGCAATGAGCAGAGATCGCACATTGCATTCCAGCCTGGACAAGGAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTCAATAAAAAATAAATAAATAAATAAATAAAGCAAGTTAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAAGTCAGGAGATTGAGATAACCTGGGTAACACGGTGAAACCCCGTCTCTACTAAAAATA... | CGTGCTGGCGGGCACCTGTAATCTCGGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGGTGCAATGAGCAGAGATCGCACATTGCATTCCAGCCTGGACAAGGAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTCAATAAAAAATAAATAAATAAATAAATAAAGCAAGTTAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAAGTCAGGAGATTGAGATAACCTGGGTAACACGGTGAAACCCCGTCTCTACTAAAAATA... |
Task1_train_29877 | A mutation found in TFE3 (transcription factor binding to IGHM enhancer 3) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | AGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGGTGCAATGAGCAGAGATCGCACATTGCATTCCAGCCTGGACAAGGAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTCAATAAAAAATAAATAAATAAATAAATAAAGCAAGTTAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAAGTCAGGAGATTGAGATAACCTGGGTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGGGGCACGCGCCTGTAGTCCCAG... | AGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGGTGCAATGAGCAGAGATCGCACATTGCATTCCAGCCTGGACAAGGAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTCAATAAAAAATAAATAAATAAATAAATAAAGCAAGTTAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAAGTCAGGAGATTGAGATAACCTGGGTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGGGGCACGCGCCTGTAGTCCCAG... |
Task1_train_29878 | A variant has been detected on Chromosome X in TFE3 (transcription factor binding to IGHM enhancer 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | AGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGGTGCAATGAGCAGAGATCGCACATTGCATTCCAGCCTGGACAAGGAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTCAATAAAAAATAAATAAATAAATAAATAAAGCAAGTTAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAAGTCAGGAGATTGAGATAACCTGGGTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGGGGCACGCGCCTGTAGTCCCAG... | AGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGGTGCAATGAGCAGAGATCGCACATTGCATTCCAGCCTGGACAAGGAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTCAATAAAAAATAAATAAATAAATAAATAAAGCAAGTTAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAAGTCAGGAGATTGAGATAACCTGGGTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGGGGCACGCGCCTGTAGTCCCAG... |
Task1_train_29879 | A sequence alteration has been identified in TFE3 (transcription factor binding to IGHM enhancer 3) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | GGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGGTGCAATGAGCAGAGATCGCACATTGCATTCCAGCCTGGACAAGGAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTCAATAAAAAATAAATAAATAAATAAATAAAGCAAGTTAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAAGTCAGGAGATTGAGATAACCTGGGTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGGGGCACGCGCCTGTAGTCCCAGT... | GGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGGTGCAATGAGCAGAGATCGCACATTGCATTCCAGCCTGGACAAGGAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTCAATAAAAAATAAATAAATAAATAAATAAAGCAAGTTAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAAGTCAGGAGATTGAGATAACCTGGGTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGGGGCACGCGCCTGTAGTCCCAGT... |
Task1_train_29880 | This sequence change occurs on Chromosome X, altering TFE3 (transcription factor binding to IGHM enhancer 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | CAGTGAGCCAAGATCGCACCGCTGCACTCCAGCCAGGGTGACAGAGTGAGACTCTGTCTTAAAAGAAAAAAAAGGTAAAAATAAAATAAAACAAAATGCTCCAATCATTACATGGTCTGGTGTATATGTCCCGATGACCTGAATCCCTTGGTACATTCAAGTTGCTATAAGATGCTCATCTCGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGTTCAAGACCCGCCTGACCAACGTGATGAAACCCCGTCTCTACTAAAAATAGAAAAATTAGCTT... | CAGTGAGCCAAGATCGCACCGCTGCACTCCAGCCAGGGTGACAGAGTGAGACTCTGTCTTAAAAGAAAAAAAAGGTAAAAATAAAATAAAACAAAATGCTCCAATCATTACATGGTCTGGTGTATATGTCCCGATGACCTGAATCCCTTGGTACATTCAAGTTGCTATAAGATGCTCATCTCGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGTTCAAGACCCGCCTGACCAACGTGATGAAACCCCGTCTCTACTAAAAATAGAAAAATTAGCTT... |
Task1_train_29881 | Gene TFE3 (transcription factor binding to IGHM enhancer 3) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Neurodevelopmental disorder | GCCAAGATCGCACCGCTGCACTCCAGCCAGGGTGACAGAGTGAGACTCTGTCTTAAAAGAAAAAAAAGGTAAAAATAAAATAAAACAAAATGCTCCAATCATTACATGGTCTGGTGTATATGTCCCGATGACCTGAATCCCTTGGTACATTCAAGTTGCTATAAGATGCTCATCTCGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGTTCAAGACCCGCCTGACCAACGTGATGAAACCCCGTCTCTACTAAAAATAGAAAAATTAGCTTGGTATG... | GCCAAGATCGCACCGCTGCACTCCAGCCAGGGTGACAGAGTGAGACTCTGTCTTAAAAGAAAAAAAAGGTAAAAATAAAATAAAACAAAATGCTCCAATCATTACATGGTCTGGTGTATATGTCCCGATGACCTGAATCCCTTGGTACATTCAAGTTGCTATAAGATGCTCATCTCGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGTTCAAGACCCGCCTGACCAACGTGATGAAACCCCGTCTCTACTAAAAATAGAAAAATTAGCTTGGTATG... |
Task1_train_29882 | A mutation on Chromosome X affecting TFE3 (transcription factor binding to IGHM enhancer 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | GCCAAGATCGCACCGCTGCACTCCAGCCAGGGTGACAGAGTGAGACTCTGTCTTAAAAGAAAAAAAAGGTAAAAATAAAATAAAACAAAATGCTCCAATCATTACATGGTCTGGTGTATATGTCCCGATGACCTGAATCCCTTGGTACATTCAAGTTGCTATAAGATGCTCATCTCGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGTTCAAGACCCGCCTGACCAACGTGATGAAACCCCGTCTCTACTAAAAATAGAAAAATTAGCTTGGTATG... | GCCAAGATCGCACCGCTGCACTCCAGCCAGGGTGACAGAGTGAGACTCTGTCTTAAAAGAAAAAAAAGGTAAAAATAAAATAAAACAAAATGCTCCAATCATTACATGGTCTGGTGTATATGTCCCGATGACCTGAATCCCTTGGTACATTCAAGTTGCTATAAGATGCTCATCTCGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGTTCAAGACCCGCCTGACCAACGTGATGAAACCCCGTCTCTACTAAAAATAGAAAAATTAGCTTGGTATG... |
Task1_train_29883 | The gene TFE3 (transcription factor binding to IGHM enhancer 3) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | CCAAGATCGCACCGCTGCACTCCAGCCAGGGTGACAGAGTGAGACTCTGTCTTAAAAGAAAAAAAAGGTAAAAATAAAATAAAACAAAATGCTCCAATCATTACATGGTCTGGTGTATATGTCCCGATGACCTGAATCCCTTGGTACATTCAAGTTGCTATAAGATGCTCATCTCGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGTTCAAGACCCGCCTGACCAACGTGATGAAACCCCGTCTCTACTAAAAATAGAAAAATTAGCTTGGTATGG... | CCAAGATCGCACCGCTGCACTCCAGCCAGGGTGACAGAGTGAGACTCTGTCTTAAAAGAAAAAAAAGGTAAAAATAAAATAAAACAAAATGCTCCAATCATTACATGGTCTGGTGTATATGTCCCGATGACCTGAATCCCTTGGTACATTCAAGTTGCTATAAGATGCTCATCTCGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGTTCAAGACCCGCCTGACCAACGTGATGAAACCCCGTCTCTACTAAAAATAGAAAAATTAGCTTGGTATGG... |
Task1_train_29884 | Given this variant in gene WDR45 (WD repeat domain 45) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Neurodegeneration with brain iron accumulation 5 | AACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGT... | AACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGT... |
Task1_train_29885 | A variant found in Chromosome X affects WDR45 (WD repeat domain 45). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Neurodegeneration with brain iron accumulation 5 | CCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGC... | CCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGC... |
Task1_train_29886 | Gene LOC126863256, WDR45 (BRD4-independent group 4 enhancer GRCh37_chrX:48934848-48936047| WD repeat domain 45), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Developmental disorder | CTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGC... | CTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGC... |
Task1_train_29887 | The gene LOC126863256, WDR45 (BRD4-independent group 4 enhancer GRCh37_chrX:48934848-48936047| WD repeat domain 45) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Neurodegeneration with brain iron accumulation 5 | AAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCA... | AAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCA... |
Task1_train_29888 | This gene mutation involves SYP (synaptophysin) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Intellectual disability, X-linked 96 | AAGTGAGCTGGGCATGGTCGCTCACACTTATAGTCTCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGTTCAAGTCTAGCATTCCTAAAGTGCTAGGATTACAGGCGTGAGCTACCACGCCCAGCCTGCGACAGGGCAGAGTTCTGACACAGGAGGACTGTGGCCTAATTTAGGATTTAACAGAATCCCTCCAGATGCTGTGAGTAGAACAGAATGGAAATGGAGACCTGAGAAGAGGTCTGGGAGAGATGACAGTGGAAGATGAAGGATATATTTTTTGAAGGTAGGACCCACAGGATTTTTTGA... | AAGTGAGCTGGGCATGGTCGCTCACACTTATAGTCTCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGTTCAAGTCTAGCATTCCTAAAGTGCTAGGATTACAGGCGTGAGCTACCACGCCCAGCCTGCGACAGGGCAGAGTTCTGACACAGGAGGACTGTGGCCTAATTTAGGATTTAACAGAATCCCTCCAGATGCTGTGAGTAGAACAGAATGGAAATGGAGACCTGAGAAGAGGTCTGGGAGAGATGACAGTGGAAGATGAAGGATATATTTTTTGAAGGTAGGACCCACAGGATTTTTTGA... |
Task1_train_29889 | Mutation context: Chromosome X, Gene CACNA1F (calcium voltage-gated channel subunit alpha1 F). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; X-linked cone-rod dystrophy 3 | GGTGAGATCTGAGGGCCTCTGCAGTTCTTGGGACAATTCTGGGACTATATCTTTGGGCCTTGGTGAGATCTAGAGGCTCTAAAGTCTTTGGGAGGGGTCCTGAGCTCCGTGGACGGCAGGGTCTTGGGCACTCACTTGCATTCTTGAGGGGTGTGTTTGGCCTCGTCCGTGCAGGTGTAGAATTTCCCCTGTAGAGAGGATGTCTGTCAAGTAGGTTCACCCTTCATCACACTCCCGCCCAGACCCCTGCCTGGCATTCCCTCCAGTGTTTGCCCCACCTTGAAGAGCTGCACCCCGATGCAGGCGAACATAAATTGCAG... | GGTGAGATCTGAGGGCCTCTGCAGTTCTTGGGACAATTCTGGGACTATATCTTTGGGCCTTGGTGAGATCTAGAGGCTCTAAAGTCTTTGGGAGGGGTCCTGAGCTCCGTGGACGGCAGGGTCTTGGGCACTCACTTGCATTCTTGAGGGGTGTGTTTGGCCTCGTCCGTGCAGGTGTAGAATTTCCCCTGTAGAGAGGATGTCTGTCAAGTAGGTTCACCCTTCATCACACTCCCGCCCAGACCCCTGCCTGGCATTCCCTCCAGTGTTTGCCCCACCTTGAAGAGCTGCACCCCGATGCAGGCGAACATAAATTGCAG... |
Task1_train_29890 | The gene CACNA1F (calcium voltage-gated channel subunit alpha1 F) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | AGGACAGGAAGACGGGAGTCATCAATGGTGAGGGAGACACAGGGAATGGACACAGGGGAGGCATGGAAGAAATGTAATAATAGGGGAAAGAATAGGCAGAGGATGAAGGTTAAAGACATGCACATATGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTTTCAAAAATAACAAAAATTAGCCGAGTGTGGTGGCGCATGCCTGTAAATCCCAGCTACTTGGGAGGCTGAGGCAGG... | AGGACAGGAAGACGGGAGTCATCAATGGTGAGGGAGACACAGGGAATGGACACAGGGGAGGCATGGAAGAAATGTAATAATAGGGGAAAGAATAGGCAGAGGATGAAGGTTAAAGACATGCACATATGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTTTCAAAAATAACAAAAATTAGCCGAGTGTGGTGGCGCATGCCTGTAAATCCCAGCTACTTGGGAGGCTGAGGCAGG... |
Task1_train_29891 | A variant was discovered in gene CACNA1F (calcium voltage-gated channel subunit alpha1 F), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | AGACGGGAGTCATCAATGGTGAGGGAGACACAGGGAATGGACACAGGGGAGGCATGGAAGAAATGTAATAATAGGGGAAAGAATAGGCAGAGGATGAAGGTTAAAGACATGCACATATGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTTTCAAAAATAACAAAAATTAGCCGAGTGTGGTGGCGCATGCCTGTAAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCT... | AGACGGGAGTCATCAATGGTGAGGGAGACACAGGGAATGGACACAGGGGAGGCATGGAAGAAATGTAATAATAGGGGAAAGAATAGGCAGAGGATGAAGGTTAAAGACATGCACATATGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTTTCAAAAATAACAAAAATTAGCCGAGTGTGGTGGCGCATGCCTGTAAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCT... |
Task1_train_29892 | A variant on Chromosome X in gene CACNA1F (calcium voltage-gated channel subunit alpha1 F) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Congenital stationary night blindness 2A | GCAGGCATTGGACTTCACTGCCCGACGGCAGCGTGCCCGAAGGACCCGGTTGGCTCGGCGGAGGCGGCGGCTGGGGGAAGGGGAGCCCACAGGCTGAGATCACCTACCTAAGCCTGCCCTGGGGGGCTCAGGTGGGGGATCCAAAGGTCATGAGGGCTTGGAGGTGGGGGGTTTCAAAGTTATGGAGTCAAGGATTTGCACAACTTTCCCAACTCACCAGACTCTGGTTTTCATGATCTTGTTTCTGAAAAAGAAGGGGGATGGGAGGTGTGTGTCGTAAAGGGCAGAAGGGGTGTCAGTGACTGGGGCCAGAGGTCAAG... | GCAGGCATTGGACTTCACTGCCCGACGGCAGCGTGCCCGAAGGACCCGGTTGGCTCGGCGGAGGCGGCGGCTGGGGGAAGGGGAGCCCACAGGCTGAGATCACCTACCTAAGCCTGCCCTGGGGGGCTCAGGTGGGGGATCCAAAGGTCATGAGGGCTTGGAGGTGGGGGGTTTCAAAGTTATGGAGTCAAGGATTTGCACAACTTTCCCAACTCACCAGACTCTGGTTTTCATGATCTTGTTTCTGAAAAAGAAGGGGGATGGGAGGTGTGTGTCGTAAAGGGCAGAAGGGGTGTCAGTGACTGGGGCCAGAGGTCAAG... |
Task1_train_29893 | This alteration occurs within gene CCDC22 (CCC complex scaffolding subunit CCDC22) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Ritscher-Schinzel syndrome 2 | GAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCATAGCTCACAGTAGCGTTGAATTCCTGTGCTCAAGTGATCCTCTGACCTCAGCCTCTGTAGCTGGGACTGCAGGTGTGCACTACCATGCCCAACTATTTTTTTTTTAAATTTTGGGTTGCTTCGAACTTTATTTGAGAACAACAGAAGATAAACCTATCAAAAGAACACACAGGTGGGTGCGGGGGCACGGCTAGTGGCGGCGGCCGGGGTGGGCATCCGGGCTAAGGCTTTTACTTGGCTGCAGACTGGTCGGATTTCGCAGCTCCTAGG... | GAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCATAGCTCACAGTAGCGTTGAATTCCTGTGCTCAAGTGATCCTCTGACCTCAGCCTCTGTAGCTGGGACTGCAGGTGTGCACTACCATGCCCAACTATTTTTTTTTTAAATTTTGGGTTGCTTCGAACTTTATTTGAGAACAACAGAAGATAAACCTATCAAAAGAACACACAGGTGGGTGCGGGGGCACGGCTAGTGGCGGCGGCCGGGGTGGGCATCCGGGCTAAGGCTTTTACTTGGCTGCAGACTGGTCGGATTTCGCAGCTCCTAGG... |
Task1_train_29894 | Gene CCDC22 (CCC complex scaffolding subunit CCDC22) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Ritscher-Schinzel syndrome 2 | GGAGCCCCAGGCCCAGGCCACTCAGGTGTCAGATGTGCCAGCCACCTCCCGGCGGCCTGAACAGGTGAGCAGAGTGGTTTGGAGGGGGGTGTCCCAGGCCCTTGCTTGTCTACTGGGCCTGACACCCCAACCCTGACTGGCCTGGGCCTCCCAGGTCACGTGGGCAGCTCAGGAACAGGAGCTCGAGTCCCTTCGGGAGCAGCTGGAAGGAGTGAACCGCAGCATTGAGGAGGTTGAGGCCGACATGAAGACCCTGGGCGTCAGCTTTGTGCAGGTAAGGGGCGGAGGAGGGGCTGCGCGTTGGGCTAGGTCAGAAGGAG... | GGAGCCCCAGGCCCAGGCCACTCAGGTGTCAGATGTGCCAGCCACCTCCCGGCGGCCTGAACAGGTGAGCAGAGTGGTTTGGAGGGGGGTGTCCCAGGCCCTTGCTTGTCTACTGGGCCTGACACCCCAACCCTGACTGGCCTGGGCCTCCCAGGTCACGTGGGCAGCTCAGGAACAGGAGCTCGAGTCCCTTCGGGAGCAGCTGGAAGGAGTGAACCGCAGCATTGAGGAGGTTGAGGCCGACATGAAGACCCTGGGCGTCAGCTTTGTGCAGGTAAGGGGCGGAGGAGGGGCTGCGCGTTGGGCTAGGTCAGAAGGAG... |
Task1_train_29895 | Here is a variant affecting FOXP3 (forkhead box P3) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Insulin-dependent diabetes mellitus secretory diarrhea syndrome | GGCTTTGTTTCATGGAGGATGAAGCTAGTGGGGTGGTGGGAGAGGGTGGCCTTCTTAGGGCATGGAGATGGTCAAGGGCAGCCCACTGATACCTTTGAGGTCCCTGTGTCTGGTCAGGATGCCAAGAAGGACGATGCTGTTCGGAAGGCCTATAAGTATCTAGCTGCTCTGCACGAGGTGAGGGGAGACATGTGCCTGGGGTGGGGCTGCTGGGGGTGGGTGGGACTGGGTGCAAGCCTTCTGCTCCTGTTGTCCCCAGAACTGCAGCCAGCTCATCCAGACCATCGAGGACACAGGCACCATCATGCGGGAGGTTCGAG... | GGCTTTGTTTCATGGAGGATGAAGCTAGTGGGGTGGTGGGAGAGGGTGGCCTTCTTAGGGCATGGAGATGGTCAAGGGCAGCCCACTGATACCTTTGAGGTCCCTGTGTCTGGTCAGGATGCCAAGAAGGACGATGCTGTTCGGAAGGCCTATAAGTATCTAGCTGCTCTGCACGAGGTGAGGGGAGACATGTGCCTGGGGTGGGGCTGCTGGGGGTGGGTGGGACTGGGTGCAAGCCTTCTGCTCCTGTTGTCCCCAGAACTGCAGCCAGCTCATCCAGACCATCGAGGACACAGGCACCATCATGCGGGAGGTTCGAG... |
Task1_train_29896 | Chromosome X houses a mutation in gene FOXP3 (forkhead box P3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Insulin-dependent diabetes mellitus secretory diarrhea syndrome | GCTTTGTTTCATGGAGGATGAAGCTAGTGGGGTGGTGGGAGAGGGTGGCCTTCTTAGGGCATGGAGATGGTCAAGGGCAGCCCACTGATACCTTTGAGGTCCCTGTGTCTGGTCAGGATGCCAAGAAGGACGATGCTGTTCGGAAGGCCTATAAGTATCTAGCTGCTCTGCACGAGGTGAGGGGAGACATGTGCCTGGGGTGGGGCTGCTGGGGGTGGGTGGGACTGGGTGCAAGCCTTCTGCTCCTGTTGTCCCCAGAACTGCAGCCAGCTCATCCAGACCATCGAGGACACAGGCACCATCATGCGGGAGGTTCGAGA... | GCTTTGTTTCATGGAGGATGAAGCTAGTGGGGTGGTGGGAGAGGGTGGCCTTCTTAGGGCATGGAGATGGTCAAGGGCAGCCCACTGATACCTTTGAGGTCCCTGTGTCTGGTCAGGATGCCAAGAAGGACGATGCTGTTCGGAAGGCCTATAAGTATCTAGCTGCTCTGCACGAGGTGAGGGGAGACATGTGCCTGGGGTGGGGCTGCTGGGGGTGGGTGGGACTGGGTGCAAGCCTTCTGCTCCTGTTGTCCCCAGAACTGCAGCCAGCTCATCCAGACCATCGAGGACACAGGCACCATCATGCGGGAGGTTCGAGA... |
Task1_train_29897 | This alteration occurs within gene FOXP3 (forkhead box P3) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Hydrops fetalis | GCTTTGTTTCATGGAGGATGAAGCTAGTGGGGTGGTGGGAGAGGGTGGCCTTCTTAGGGCATGGAGATGGTCAAGGGCAGCCCACTGATACCTTTGAGGTCCCTGTGTCTGGTCAGGATGCCAAGAAGGACGATGCTGTTCGGAAGGCCTATAAGTATCTAGCTGCTCTGCACGAGGTGAGGGGAGACATGTGCCTGGGGTGGGGCTGCTGGGGGTGGGTGGGACTGGGTGCAAGCCTTCTGCTCCTGTTGTCCCCAGAACTGCAGCCAGCTCATCCAGACCATCGAGGACACAGGCACCATCATGCGGGAGGTTCGAGA... | GCTTTGTTTCATGGAGGATGAAGCTAGTGGGGTGGTGGGAGAGGGTGGCCTTCTTAGGGCATGGAGATGGTCAAGGGCAGCCCACTGATACCTTTGAGGTCCCTGTGTCTGGTCAGGATGCCAAGAAGGACGATGCTGTTCGGAAGGCCTATAAGTATCTAGCTGCTCTGCACGAGGTGAGGGGAGACATGTGCCTGGGGTGGGGCTGCTGGGGGTGGGTGGGACTGGGTGCAAGCCTTCTGCTCCTGTTGTCCCCAGAACTGCAGCCAGCTCATCCAGACCATCGAGGACACAGGCACCATCATGCGGGAGGTTCGAGA... |
Task1_train_29898 | A variant has been detected on Chromosome X in FOXP3 (forkhead box P3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Insulin-dependent diabetes mellitus secretory diarrhea syndrome | AGAGGGTGGCCTTCTTAGGGCATGGAGATGGTCAAGGGCAGCCCACTGATACCTTTGAGGTCCCTGTGTCTGGTCAGGATGCCAAGAAGGACGATGCTGTTCGGAAGGCCTATAAGTATCTAGCTGCTCTGCACGAGGTGAGGGGAGACATGTGCCTGGGGTGGGGCTGCTGGGGGTGGGTGGGACTGGGTGCAAGCCTTCTGCTCCTGTTGTCCCCAGAACTGCAGCCAGCTCATCCAGACCATCGAGGACACAGGCACCATCATGCGGGAGGTTCGAGACCTCGAGGAGCAGGTGAGGCCTGGGGGCAGGATGGGGAG... | AGAGGGTGGCCTTCTTAGGGCATGGAGATGGTCAAGGGCAGCCCACTGATACCTTTGAGGTCCCTGTGTCTGGTCAGGATGCCAAGAAGGACGATGCTGTTCGGAAGGCCTATAAGTATCTAGCTGCTCTGCACGAGGTGAGGGGAGACATGTGCCTGGGGTGGGGCTGCTGGGGGTGGGTGGGACTGGGTGCAAGCCTTCTGCTCCTGTTGTCCCCAGAACTGCAGCCAGCTCATCCAGACCATCGAGGACACAGGCACCATCATGCGGGAGGTTCGAGACCTCGAGGAGCAGGTGAGGCCTGGGGGCAGGATGGGGAG... |
Task1_train_29899 | Gene FOXP3 (forkhead box P3), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Insulin-dependent diabetes mellitus secretory diarrhea syndrome | GAACTGCAGCCAGCTCATCCAGACCATCGAGGACACAGGCACCATCATGCGGGAGGTTCGAGACCTCGAGGAGCAGGTGAGGCCTGGGGGCAGGATGGGGAGCCAAGGCGGGCCGGGGGGACAGTTCCTCAGGTTATGCTGACAGAGGCTGTGGAGCCACACACAGCCGATGGCTGGACACCCAGCCCTGCCCCTTAGTGCCTGTGACCTGGGACAGGCAAGTGGCCTACTGTGAGCCCCAGCTTCCACCCCAAGGGCCCTCCTGTCTGCCTCCCAGGGCCATGGGCAGAGGCTTCAGCTTAAAGATGTAGGGGGAATCC... | GAACTGCAGCCAGCTCATCCAGACCATCGAGGACACAGGCACCATCATGCGGGAGGTTCGAGACCTCGAGGAGCAGGTGAGGCCTGGGGGCAGGATGGGGAGCCAAGGCGGGCCGGGGGGACAGTTCCTCAGGTTATGCTGACAGAGGCTGTGGAGCCACACACAGCCGATGGCTGGACACCCAGCCCTGCCCCTTAGTGCCTGTGACCTGGGACAGGCAAGTGGCCTACTGTGAGCCCCAGCTTCCACCCCAAGGGCCCTCCTGTCTGCCTCCCAGGGCCATGGGCAGAGGCTTCAGCTTAAAGATGTAGGGGGAATCC... |
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