question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Considering the variant on chromosome 17, location 80095474, involving gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | ACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAGCTGATTTTAATATTAGGCTGTTTTCTTATTTCTCTTTTTTTTTTTTTTGAAACAGTCTCGCTCTGTTGCCCAGGCTAGAGAGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGTGCACCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGATTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGAGC... | ACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAGCTGATTTTAATATTAGGCTGTTTTCTTATTTCTCTTTTTTTTTTTTTTGAAACAGTCTCGCTCTGTTGCCCAGGCTAGAGAGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGTGCACCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGATTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGAGC... | benign | 285,036 |
Is the variant located on chromosome 17 at position 80097351, gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_15'] | TCCGTGCCATGGAGTTGGCGGTTGCCCGCAGAGAGACCGTCACCACCCAGGCCGAGGGGCAGCGCAAGATGGACAGGAAGGCGCTCACCCGCACCGACTTCCACCACAAGCAGCTTGAGCTGCGCCGGAAAATCAGGGACGTTCGCAAGGTAGGGAGCAGCGGAAAGGAAACAGGGCGCCTGCTCCTCTCTCTGGGATTCAAGGAACACTCCAGGAAGGCGTCTTGCTGGGTCCGGGGTGAGGATGCAGAGGCTGCAGTGGGGGCGTGCTCAGCACTGCTAACCTGCTGCTGGGTGCTGGGTCTGGGGTGAGGATGCAGA... | TCCGTGCCATGGAGTTGGCGGTTGCCCGCAGAGAGACCGTCACCACCCAGGCCGAGGGGCAGCGCAAGATGGACAGGAAGGCGCTCACCCGCACCGACTTCCACCACAAGCAGCTTGAGCTGCGCCGGAAAATCAGGGACGTTCGCAAGGTAGGGAGCAGCGGAAAGGAAACAGGGCGCCTGCTCCTCTCTCTGGGATTCAAGGAACACTCCAGGAAGGCGTCTTGCTGGGTCCGGGGTGAGGATGCAGAGGCTGCAGTGGGGGCGTGCTCAGCACTGCTAACCTGCTGCTGGGTGCTGGGTCTGGGGTGAGGATGCAGA... | pathogenic | 285,045 |
Variant in gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit), located at chromosome 17 position 80097377: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia'] | CGCAGAGAGACCGTCACCACCCAGGCCGAGGGGCAGCGCAAGATGGACAGGAAGGCGCTCACCCGCACCGACTTCCACCACAAGCAGCTTGAGCTGCGCCGGAAAATCAGGGACGTTCGCAAGGTAGGGAGCAGCGGAAAGGAAACAGGGCGCCTGCTCCTCTCTCTGGGATTCAAGGAACACTCCAGGAAGGCGTCTTGCTGGGTCCGGGGTGAGGATGCAGAGGCTGCAGTGGGGGCGTGCTCAGCACTGCTAACCTGCTGCTGGGTGCTGGGTCTGGGGTGAGGATGCAGAGAGACCATCCCCAGTTCTGCTAACCT... | CGCAGAGAGACCGTCACCACCCAGGCCGAGGGGCAGCGCAAGATGGACAGGAAGGCGCTCACCCGCACCGACTTCCACCACAAGCAGCTTGAGCTGCGCCGGAAAATCAGGGACGTTCGCAAGGTAGGGAGCAGCGGAAAGGAAACAGGGCGCCTGCTCCTCTCTCTGGGATTCAAGGAACACTCCAGGAAGGCGTCTTGCTGGGTCCGGGGTGAGGATGCAGAGGCTGCAGTGGGGGCGTGCTCAGCACTGCTAACCTGCTGCTGGGTGCTGGGTCTGGGGTGAGGATGCAGAGAGACCATCCCCAGTTCTGCTAACCT... | pathogenic | 285,047 |
Located at chromosome 17 position 80104622, the variant affecting gene GAA (alpha glucosidase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GAGGGCTTCCCGCCGGGTTGTGGAACACACCAAGGCACTGGAGGGTGGTGCGAGCAGAGAGCACAGCATCACTGCCCCCACCTCACACCAGGCCCTACGCATCTCTTCCATACGGCTGTCTGAGTTTTATCCTTTGTAATAAACCAGCAACTGTAAGAAACGCACTTTCCTGAGTTCTGTGACCCTGAAGAGGGAGTCCTGGGAACCTCTGAATTTATAACTAGTTGATCGAAAGTACAAGTGACAACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTG... | GAGGGCTTCCCGCCGGGTTGTGGAACACACCAAGGCACTGGAGGGTGGTGCGAGCAGAGAGCACAGCATCACTGCCCCCACCTCACACCAGGCCCTACGCATCTCTTCCATACGGCTGTCTGAGTTTTATCCTTTGTAATAAACCAGCAACTGTAAGAAACGCACTTTCCTGAGTTCTGTGACCCTGAAGAGGGAGTCCTGGGAACCTCTGAATTTATAACTAGTTGATCGAAAGTACAAGTGACAACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTG... | pathogenic | 285,087 |
Gene GAA (alpha glucosidase) variant at chromosome position 80104640 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glycogen_storage_disease,_type_II'] | TGTGGAACACACCAAGGCACTGGAGGGTGGTGCGAGCAGAGAGCACAGCATCACTGCCCCCACCTCACACCAGGCCCTACGCATCTCTTCCATACGGCTGTCTGAGTTTTATCCTTTGTAATAAACCAGCAACTGTAAGAAACGCACTTTCCTGAGTTCTGTGACCCTGAAGAGGGAGTCCTGGGAACCTCTGAATTTATAACTAGTTGATCGAAAGTACAAGTGACAACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTC... | TGTGGAACACACCAAGGCACTGGAGGGTGGTGCGAGCAGAGAGCACAGCATCACTGCCCCCACCTCACACCAGGCCCTACGCATCTCTTCCATACGGCTGTCTGAGTTTTATCCTTTGTAATAAACCAGCAACTGTAAGAAACGCACTTTCCTGAGTTCTGTGACCCTGAAGAGGGAGTCCTGGGAACCTCTGAATTTATAACTAGTTGATCGAAAGTACAAGTGACAACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTC... | pathogenic | 285,088 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 80104740, gene GAA (alpha glucosidase): what disease(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_II'] | TCTGAGTTTTATCCTTTGTAATAAACCAGCAACTGTAAGAAACGCACTTTCCTGAGTTCTGTGACCCTGAAGAGGGAGTCCTGGGAACCTCTGAATTTATAACTAGTTGATCGAAAGTACAAGTGACAACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGT... | TCTGAGTTTTATCCTTTGTAATAAACCAGCAACTGTAAGAAACGCACTTTCCTGAGTTCTGTGACCCTGAAGAGGGAGTCCTGGGAACCTCTGAATTTATAACTAGTTGATCGAAAGTACAAGTGACAACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGT... | pathogenic | 285,095 |
Variant at chromosome 17, position 80104815, gene GAA (alpha glucosidase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Glycogen_storage_disease,_type_II'] | GAGTCCTGGGAACCTCTGAATTTATAACTAGTTGATCGAAAGTACAAGTGACAACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGG... | GAGTCCTGGGAACCTCTGAATTTATAACTAGTTGATCGAAAGTACAAGTGACAACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGG... | pathogenic | 285,099 |
Determine if the mutation at chromosome 17, position 80104837 in gene GAA (alpha glucosidase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['GAA-related_disorder', 'Glycogen_storage_disease,_type_II'] | TATAACTAGTTGATCGAAAGTACAAGTGACAACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCC... | TATAACTAGTTGATCGAAAGTACAAGTGACAACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCC... | pathogenic | 285,105 |
Considering the variant on chromosome 17, location 80104837, involving gene GAA (alpha glucosidase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Glycogen_storage_disease,_type_II'] | TATAACTAGTTGATCGAAAGTACAAGTGACAACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCC... | TATAACTAGTTGATCGAAAGTACAAGTGACAACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCC... | pathogenic | 285,106 |
Is the variant located on chromosome 17 at position 80104866, gene GAA (alpha glucosidase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Glycogen_storage_disease,_type_II'] | CAACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACT... | CAACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACT... | pathogenic | 285,114 |
Clinically, how would you classify the variant at chromosome 17, position 80104867, gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Glycogen_storage_disease,_type_II'] | AACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTC... | AACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTC... | pathogenic | 285,115 |
Clinically, how would you classify the variant at chromosome 17, position 80104926, gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Glycogen_storage_disease,_type_II'] | ACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGG... | ACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGG... | pathogenic | 285,123 |
Evaluate if the mutation on chromosome 17 at position 80104927 in GAA (alpha glucosidase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGT... | CCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGT... | pathogenic | 285,124 |
A genetic variant on chromosome 17, position 80104950, affects the gene GAA (alpha glucosidase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Glycogen_storage_disease,_type_II'] | AGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGA... | AGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGA... | pathogenic | 285,130 |
Mutation at chromosome 17, position 80104961, within GAA (alpha glucosidase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | AGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGC... | AGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGC... | pathogenic | 285,133 |
Gene mutation in GAA (alpha glucosidase) at chromosome 17, position 80104963—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | ATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCA... | ATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCA... | pathogenic | 285,135 |
Considering the variant on chromosome 17, location 80104976, involving gene GAA (alpha glucosidase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCT... | GTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCT... | pathogenic | 285,138 |
Evaluate this variant at chromosome 17, position 80105022, gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGC... | GAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGC... | pathogenic | 285,141 |
A genetic variant on chromosome 17, position 80105032, affects the gene GAA (alpha glucosidase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCT... | CTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCT... | pathogenic | 285,143 |
Does the chromosome 17 mutation at position 80105042 within gene GAA (alpha glucosidase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Glycogen_storage_disease,_type_II'] | AATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGAC... | AATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGAC... | pathogenic | 285,147 |
A genetic alteration at chromosome 17, position 80105052, in gene GAA (alpha glucosidase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGA... | GTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGA... | pathogenic | 285,148 |
Mutation found at chromosome 17 position 80105065, gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | GTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGAGGACCTCTCTGCA... | GTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGAGGACCTCTCTGCA... | pathogenic | 285,149 |
Chromosome 17, position 80105096, gene GAA (alpha glucosidase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Glycogen_storage_disease,_type_II'] | TACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGAGGACCTCTCTGCATCCCTCCCCCATGGCCTTGCTCCTAGGACAC... | TACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGAGGACCTCTCTGCATCCCTCCCCCATGGCCTTGCTCCTAGGACAC... | pathogenic | 285,151 |
Evaluate if the mutation on chromosome 17 at position 80105110 in GAA (alpha glucosidase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGAGGACCTCTCTGCATCCCTCCCCCATGGCCTTGCTCCTAGGACACCTTCTTCCTCCTTT... | GGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGAGGACCTCTCTGCATCCCTCCCCCATGGCCTTGCTCCTAGGACACCTTCTTCCTCCTTT... | pathogenic | 285,153 |
Evaluate if the mutation on chromosome 17 at position 80105110 in GAA (alpha glucosidase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGAGGACCTCTCTGCATCCCTCCCCCATGGCCTTGCTCCTAGGACACCTTCTTCCTCCTTT... | GGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGAGGACCTCTCTGCATCCCTCCCCCATGGCCTTGCTCCTAGGACACCTTCTTCCTCCTTT... | pathogenic | 285,154 |
Gene GAA (alpha glucosidase) variant at chromosome position 80105131 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGAGGACCTCTCTGCATCCCTCCCCCATGGCCTTGCTCCTAGGACACCTTCTTCCTCCTTTCCCTGGGGTCAGACTTGCCTA... | GGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGAGGACCTCTCTGCATCCCTCCCCCATGGCCTTGCTCCTAGGACACCTTCTTCCTCCTTTCCCTGGGGTCAGACTTGCCTA... | pathogenic | 285,156 |
Variant on chromosome 17, at position 80107572, affecting GAA (alpha glucosidase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | TTCAGAGTTATCAGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTC... | TTCAGAGTTATCAGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTC... | pathogenic | 285,195 |
Regarding the variant at chromosome 17 and position 80107579, affecting gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Glycogen_storage_disease,_type_II'] | TTATCAGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAG... | TTATCAGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAG... | pathogenic | 285,197 |
Evaluate if the mutation on chromosome 17 at position 80107584 in GAA (alpha glucosidase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_II'] | AGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTT... | AGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTT... | pathogenic | 285,198 |
Clinical significance of chromosome 17, position 80107598, gene GAA (alpha glucosidase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_II'] | TTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGC... | TTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGC... | pathogenic | 285,199 |
Regarding the variant at chromosome 17 and position 80107618, affecting gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGC... | GCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGC... | pathogenic | 285,202 |
The chromosome 17, position 80107620 genetic variant in gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | GTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGT... | GTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGT... | pathogenic | 285,203 |
Chromosome 17, position 80107630, gene GAA (alpha glucosidase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | TGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTT... | TGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTT... | pathogenic | 285,206 |
A mutation at chromosome position 80107630 on chromosome 17 in gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Glycogen_storage_disease,_type_II'] | TGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTT... | TGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTT... | pathogenic | 285,207 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 80107631, gene GAA (alpha glucosidase): what disease(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTC... | GGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTC... | pathogenic | 285,208 |
The mutation impacting GAA (alpha glucosidase) on chromosome 17 at position 80107663: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_II'] | AGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGA... | AGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGA... | pathogenic | 285,214 |
Mutation found at chromosome 17 position 80107668, gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | GAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGC... | GAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGC... | pathogenic | 285,215 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 80107687, gene GAA (alpha glucosidase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGA... | CCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGA... | pathogenic | 285,216 |
Is the variant located on chromosome 17 at position 80107691, gene GAA (alpha glucosidase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Glycogen_storage_disease,_type_II'] | ATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGC... | ATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGC... | pathogenic | 285,217 |
Is the genetic mutation found on chromosome 17 at position 80107727, within the gene GAA (alpha glucosidase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGA... | TGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGA... | benign | 285,226 |
Variant in gene GAA (alpha glucosidase), located at chromosome 17 position 80107727: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGA... | TGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGA... | benign | 285,227 |
Considering the variant on chromosome 17, location 80107727, involving gene GAA (alpha glucosidase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGA... | TGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGA... | benign | 285,228 |
For chromosome 17, position 80107727, gene GAA (alpha glucosidase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGA... | TGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGA... | benign | 285,229 |
A mutation at chromosome position 80107727 on chromosome 17 in gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGA... | TGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGA... | benign | 285,230 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 80107730, gene GAA (alpha glucosidase): what disease(s) if pathogenic? | benign | CGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACAC... | CGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACAC... | benign | 285,232 |
Variant at chromosome 17, position 80107873, gene GAA (alpha glucosidase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Glycogen_storage_disease,_type_II'] | TCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAA... | TCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAA... | pathogenic | 285,254 |
Is chromosome 17, position 80108283, gene GAA (alpha glucosidase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCA... | CTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCA... | pathogenic | 285,261 |
Is the genetic change at chromosome 17, position 80108303, within gene GAA (alpha glucosidase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_II'] | CCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGG... | CCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGG... | pathogenic | 285,262 |
The mutation in gene GAA (alpha glucosidase) at chromosome 17, position 80108362—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | CATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTAT... | CATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTAT... | pathogenic | 285,268 |
Mutation found at chromosome 17 position 80108383, gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | ACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCA... | ACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCA... | pathogenic | 285,270 |
Variant in gene GAA (alpha glucosidase), located at chromosome 17 position 80108390: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGC... | CAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGC... | pathogenic | 285,271 |
Is the genetic mutation found on chromosome 17 at position 80108511, within the gene GAA (alpha glucosidase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | CTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGA... | CTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGA... | pathogenic | 285,287 |
A genetic variant at chromosome 17, position 80108539, affecting gene GAA (alpha glucosidase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | CTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCT... | CTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCT... | pathogenic | 285,296 |
Is the genetic mutation found on chromosome 17 at position 80108541, within the gene GAA (alpha glucosidase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | CTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTAC... | CTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTAC... | pathogenic | 285,297 |
Benign or pathogenic: chromosome 17, position 80108554, gene GAA (alpha glucosidase) variant? Disease(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAG... | CTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAG... | pathogenic | 285,300 |
Is the genetic change at chromosome 17, position 80108563, within gene GAA (alpha glucosidase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_II'] | AGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGA... | AGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGA... | pathogenic | 285,302 |
Variant in GAA (alpha glucosidase), chromosome 17, position 80108576—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCA... | GAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCA... | pathogenic | 285,304 |
Determine whether the variant at chromosome 17, position 80108600, in gene GAA (alpha glucosidase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | GCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCA... | GCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCA... | pathogenic | 285,306 |
Is the chromosome 17, position 80108600 variant in GAA (alpha glucosidase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCA... | GCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCA... | pathogenic | 285,307 |
Regarding the variant found on chromosome 17 at position 80108605 in gene GAA (alpha glucosidase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | TGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATT... | TGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATT... | pathogenic | 285,309 |
Chromosome 17, position 80108725, gene GAA (alpha glucosidase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGGGT... | GGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGGGT... | pathogenic | 285,322 |
Is the variant located on chromosome 17 at position 80108793, gene GAA (alpha glucosidase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Glycogen_storage_disease,_type_II'] | CCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGGGTGCGGTGTGAGCCCGTCCTGCGAAATTAGCTGTGCTGTGTTAACAGAGGACGCGTCTTCCTGTGGACCG... | CCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGGGTGCGGTGTGAGCCCGTCCTGCGAAATTAGCTGTGCTGTGTTAACAGAGGACGCGTCTTCCTGTGGACCG... | pathogenic | 285,327 |
Variant chromosome 17, position 80109963, gene GAA (alpha glucosidase): benign or pathogenic? Disease(s)? | pathogenic; ['Glycogen_storage_disease,_type_II'] | AGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGAGACTGGAGGTCCGCATGAGGGGCCCTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGC... | AGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGAGACTGGAGGTCCGCATGAGGGGCCCTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGC... | pathogenic | 285,341 |
Located at chromosome 17 position 80109972, the variant affecting gene GAA (alpha glucosidase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGAGACTGGAGGTCCGCATGAGGGGCCCTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTC... | GCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGAGACTGGAGGTCCGCATGAGGGGCCCTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTC... | pathogenic | 285,343 |
For chromosome 17, position 80109994, gene GAA (alpha glucosidase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CTGCCCTGGAGACTGGAGGTCCGCATGAGGGGCCCTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTCCAAGTGAAGAATCTGTCCCCCA... | CTGCCCTGGAGACTGGAGGTCCGCATGAGGGGCCCTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTCCAAGTGAAGAATCTGTCCCCCA... | pathogenic | 285,345 |
Is the chromosome 17, position 80110008 variant in GAA (alpha glucosidase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GGAGGTCCGCATGAGGGGCCCTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTCCAAGTGAAGAATCTGTCCCCCAACCCCAGAGCTGCT... | GGAGGTCCGCATGAGGGGCCCTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTCCAAGTGAAGAATCTGTCCCCCAACCCCAGAGCTGCT... | pathogenic | 285,347 |
Assess the variant on chromosome 17, position 80110008, impacting GAA (alpha glucosidase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | GGAGGTCCGCATGAGGGGCCCTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTCCAAGTGAAGAATCTGTCCCCCAACCCCAGAGCTGCT... | GGAGGTCCGCATGAGGGGCCCTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTCCAAGTGAAGAATCTGTCCCCCAACCCCAGAGCTGCT... | pathogenic | 285,348 |
Does the variant on chromosome 17 at location 80110024 affecting gene GAA (alpha glucosidase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['GAA-related_disorder', 'Glycogen_storage_disease,_type_II'] | GGCCCTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTCCAAGTGAAGAATCTGTCCCCCAACCCCAGAGCTGCTTCCCTTCCAGATGTGG... | GGCCCTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTCCAAGTGAAGAATCTGTCCCCCAACCCCAGAGCTGCTTCCCTTCCAGATGTGG... | pathogenic | 285,351 |
Chromosome 17, position 80110028, gene GAA (alpha glucosidase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['GAA-related_disorder', 'Glycogen_storage_disease,_type_II'] | CTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTCCAAGTGAAGAATCTGTCCCCCAACCCCAGAGCTGCTTCCCTTCCAGATGTGGTCCT... | CTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTCCAAGTGAAGAATCTGTCCCCCAACCCCAGAGCTGCTTCCCTTCCAGATGTGGTCCT... | pathogenic | 285,352 |
Gene GAA (alpha glucosidase) variant at chromosome position 80110047 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glycogen_storage_disease,_type_II'] | TTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTCCAAGTGAAGAATCTGTCCCCCAACCCCAGAGCTGCTTCCCTTCCAGATGTGGTCCTGCAGCCGAGCCCTGCCCTT... | TTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTCCAAGTGAAGAATCTGTCCCCCAACCCCAGAGCTGCTTCCCTTCCAGATGTGGTCCTGCAGCCGAGCCCTGCCCTT... | pathogenic | 285,353 |
Located at chromosome 17 position 80110729, the variant affecting gene GAA (alpha glucosidase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CGTGTTGTGGCTGCAGGACGTCCAGTGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAACAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGTGTGTGCCCCCACACTGTGGGTCTTTGGGAAGGGGGCCGCCCGGTGCCCAGTGGCTCCTTCTCTGTGCAGCGTCATCCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCA... | CGTGTTGTGGCTGCAGGACGTCCAGTGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAACAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGTGTGTGCCCCCACACTGTGGGTCTTTGGGAAGGGGGCCGCCCGGTGCCCAGTGGCTCCTTCTCTGTGCAGCGTCATCCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCA... | pathogenic | 285,367 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 80110749, gene GAA (alpha glucosidase): what disease(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_II'] | TCCAGTGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAACAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGTGTGTGCCCCCACACTGTGGGTCTTTGGGAAGGGGGCCGCCCGGTGCCCAGTGGCTCCTTCTCTGTGCAGCGTCATCCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGT... | TCCAGTGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAACAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGTGTGTGCCCCCACACTGTGGGTCTTTGGGAAGGGGGCCGCCCGGTGCCCAGTGGCTCCTTCTCTGTGCAGCGTCATCCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGT... | pathogenic | 285,376 |
Variant on chromosome 17, at position 80110946, affecting GAA (alpha glucosidase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | AGCGTCATCCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCC... | AGCGTCATCCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCC... | pathogenic | 285,399 |
The genetic variant at chromosome 17, position 80110954, affecting gene GAA (alpha glucosidase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGA... | CCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGA... | pathogenic | 285,404 |
The mutation impacting GAA (alpha glucosidase) on chromosome 17 at position 80110967: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_II'] | TGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGAAAGG... | TGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGAAAGG... | pathogenic | 285,405 |
Determine whether the variant at chromosome 17, position 80110967, in gene GAA (alpha glucosidase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | TGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGAAAGG... | TGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGAAAGG... | pathogenic | 285,406 |
Is the variant located on chromosome 17 at position 80110991, gene GAA (alpha glucosidase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Glycogen_storage_disease,_type_II'] | GGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGAAAGGACGGCGTGAGTGAGGGCAGCTTCC... | GGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGAAAGGACGGCGTGAGTGAGGGCAGCTTCC... | pathogenic | 285,408 |
Regarding the variant at chromosome 17 and position 80110998, affecting gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGAAAGGACGGCGTGAGTGAGGGCAGCTTCCAGCCCTC... | GTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGAAAGGACGGCGTGAGTGAGGGCAGCTTCCAGCCCTC... | pathogenic | 285,409 |
Considering the variant on chromosome 17, location 80111990, involving gene GAA (alpha glucosidase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CAGGATCCTGCCATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAGGGTCTGCGGAGGGGGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGGACGGGGGTTAGAAAGCAGAGGCCTCCAGCCAGGGGGAGCCGGCAGCTGCTCAGGAAGACGGTGGGATTTGAGGAGCCATCACGCCCAGTGGGACAGCTGAGAGGAATGGGCCACAGTGGCCCGTGACGATGGTGGCTCCTACAAGGAATGGCCCCGTGAGTTCTTCCATCAGCAGGCCTTTGACTT... | CAGGATCCTGCCATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAGGGTCTGCGGAGGGGGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGGACGGGGGTTAGAAAGCAGAGGCCTCCAGCCAGGGGGAGCCGGCAGCTGCTCAGGAAGACGGTGGGATTTGAGGAGCCATCACGCCCAGTGGGACAGCTGAGAGGAATGGGCCACAGTGGCCCGTGACGATGGTGGCTCCTACAAGGAATGGCCCCGTGAGTTCTTCCATCAGCAGGCCTTTGACTT... | pathogenic | 285,420 |
Does the chromosome 17 mutation at position 80111997 within gene GAA (alpha glucosidase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Glycogen_storage_disease,_type_II'] | CTGCCATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAGGGTCTGCGGAGGGGGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGGACGGGGGTTAGAAAGCAGAGGCCTCCAGCCAGGGGGAGCCGGCAGCTGCTCAGGAAGACGGTGGGATTTGAGGAGCCATCACGCCCAGTGGGACAGCTGAGAGGAATGGGCCACAGTGGCCCGTGACGATGGTGGCTCCTACAAGGAATGGCCCCGTGAGTTCTTCCATCAGCAGGCCTTTGACTTCATGGGC... | CTGCCATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAGGGTCTGCGGAGGGGGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGGACGGGGGTTAGAAAGCAGAGGCCTCCAGCCAGGGGGAGCCGGCAGCTGCTCAGGAAGACGGTGGGATTTGAGGAGCCATCACGCCCAGTGGGACAGCTGAGAGGAATGGGCCACAGTGGCCCGTGACGATGGTGGCTCCTACAAGGAATGGCCCCGTGAGTTCTTCCATCAGCAGGCCTTTGACTTCATGGGC... | pathogenic | 285,421 |
Regarding the variant at chromosome 17 and position 80112035, affecting gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Glycogen_storage_disease,_type_II', 'Inborn_genetic_diseases'] | CCCTACGACGAGGGTCTGCGGAGGGGGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGGACGGGGGTTAGAAAGCAGAGGCCTCCAGCCAGGGGGAGCCGGCAGCTGCTCAGGAAGACGGTGGGATTTGAGGAGCCATCACGCCCAGTGGGACAGCTGAGAGGAATGGGCCACAGTGGCCCGTGACGATGGTGGCTCCTACAAGGAATGGCCCCGTGAGTTCTTCCATCAGCAGGCCTTTGACTTCATGGGCAGCTGGGCCTGGCCCAGGCACAAGCCCTGCAGACCCTC... | CCCTACGACGAGGGTCTGCGGAGGGGGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGGACGGGGGTTAGAAAGCAGAGGCCTCCAGCCAGGGGGAGCCGGCAGCTGCTCAGGAAGACGGTGGGATTTGAGGAGCCATCACGCCCAGTGGGACAGCTGAGAGGAATGGGCCACAGTGGCCCGTGACGATGGTGGCTCCTACAAGGAATGGCCCCGTGAGTTCTTCCATCAGCAGGCCTTTGACTTCATGGGCAGCTGGGCCTGGCCCAGGCACAAGCCCTGCAGACCCTC... | pathogenic | 285,428 |
Does the genetic variant at chromosome 17, position 80112050, impacting gene GAA (alpha glucosidase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | CTGCGGAGGGGGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGGACGGGGGTTAGAAAGCAGAGGCCTCCAGCCAGGGGGAGCCGGCAGCTGCTCAGGAAGACGGTGGGATTTGAGGAGCCATCACGCCCAGTGGGACAGCTGAGAGGAATGGGCCACAGTGGCCCGTGACGATGGTGGCTCCTACAAGGAATGGCCCCGTGAGTTCTTCCATCAGCAGGCCTTTGACTTCATGGGCAGCTGGGCCTGGCCCAGGCACAAGCCCTGCAGACCCTCAGTGAGGCCTTAGGG... | CTGCGGAGGGGGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGGACGGGGGTTAGAAAGCAGAGGCCTCCAGCCAGGGGGAGCCGGCAGCTGCTCAGGAAGACGGTGGGATTTGAGGAGCCATCACGCCCAGTGGGACAGCTGAGAGGAATGGGCCACAGTGGCCCGTGACGATGGTGGCTCCTACAAGGAATGGCCCCGTGAGTTCTTCCATCAGCAGGCCTTTGACTTCATGGGCAGCTGGGCCTGGCCCAGGCACAAGCCCTGCAGACCCTCAGTGAGGCCTTAGGG... | pathogenic | 285,430 |
Evaluate if the mutation on chromosome 17 at position 80112629 in GAA (alpha glucosidase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CTCCAGGGTGCAGGTCTCTCAGATTTGCAAATGTGGGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCA... | CTCCAGGGTGCAGGTCTCTCAGATTTGCAAATGTGGGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCA... | pathogenic | 285,461 |
Is the variant located on chromosome 17 at position 80112644, gene GAA (alpha glucosidase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Glycogen_storage_disease,_type_II'] | CTCTCAGATTTGCAAATGTGGGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCA... | CTCTCAGATTTGCAAATGTGGGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCA... | pathogenic | 285,465 |
Considering the genetic mutation at chromosome 17, position 80112648, impacting GAA (alpha glucosidase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_II'] | CAGATTTGCAAATGTGGGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTA... | CAGATTTGCAAATGTGGGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTA... | pathogenic | 285,467 |
Regarding the variant found on chromosome 17 at position 80112649 in gene GAA (alpha glucosidase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | AGATTTGCAAATGTGGGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTAC... | AGATTTGCAAATGTGGGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTAC... | pathogenic | 285,468 |
Does the variant on chromosome 17 at location 80112664 affecting gene GAA (alpha glucosidase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCT... | GGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCT... | pathogenic | 285,475 |
Gene GAA (alpha glucosidase) variant at chromosome position 80112669 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAG... | CCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAG... | pathogenic | 285,480 |
Located at chromosome 17 position 80112670, the variant affecting gene GAA (alpha glucosidase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGG... | CACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGG... | pathogenic | 285,481 |
Does the genetic variant at chromosome 17, position 80112915, impacting gene GAA (alpha glucosidase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | CCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAG... | CCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAG... | pathogenic | 285,498 |
Does the variant impacting GAA (alpha glucosidase) on chromosome 17, position 80112936, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTG... | CCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTG... | pathogenic | 285,510 |
Evaluate the clinical significance of the mutation at chromosome 17, position 80112938 in gene GAA (alpha glucosidase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGG... | CACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGG... | pathogenic | 285,511 |
Variant at chromosome position 80112948, chromosome 17, gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Glycogen_storage_disease,_type_II'] | ACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGGTGCAGAGGCA... | ACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGGTGCAGAGGCA... | pathogenic | 285,514 |
Considering the genetic mutation at chromosome 17, position 80112956, impacting GAA (alpha glucosidase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_II'] | CAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCT... | CAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCT... | pathogenic | 285,515 |
Evaluate if the mutation on chromosome 17 at position 80113007 in GAA (alpha glucosidase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_II'] | AACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGAC... | AACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGAC... | pathogenic | 285,522 |
Gene GAA (alpha glucosidase) variant at chromosome position 80113237 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glycogen_storage_disease,_type_II'] | AAGCAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACA... | AAGCAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACA... | pathogenic | 285,540 |
Clinically, how would you classify the variant at chromosome 17, position 80113240, gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Glycogen_storage_disease,_type_II'] | CAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCG... | CAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCG... | pathogenic | 285,541 |
Mutation found at chromosome 17 position 80113242, gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | GTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCC... | GTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCC... | pathogenic | 285,543 |
Variant on chromosome 17, at position 80113254, affecting GAA (alpha glucosidase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | TGGGTGCAGAGGCACAGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTG... | TGGGTGCAGAGGCACAGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTG... | pathogenic | 285,545 |
Clinically, how would you classify the variant at chromosome 17, position 80113257, gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Glycogen_storage_disease,_type_II'] | GTGCAGAGGCACAGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAG... | GTGCAGAGGCACAGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAG... | pathogenic | 285,546 |
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