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 19, location 38448637, involving gene RYR1 (ryanodine receptor 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAG... | CTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAG... | benign | 303,208 |
Gene RYR1 (ryanodine receptor 1) variant at chromosome 19, position 38448646—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['RYR1-related_disorder', 'RYR1-related_myopathy'] | AGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATC... | AGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATC... | pathogenic | 303,209 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 38451751, gene RYR1 (ryanodine receptor 1): what disease(s) if pathogenic? | benign | TTTTTGGCAGCAGGAACAGCATGTGCAAAGGTCCTGAGGTTAACATGAGCTTGGCTTGTTGCAGTAGCAGAAAGAAGCCACAGTGTGGAACAGGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTG... | TTTTTGGCAGCAGGAACAGCATGTGCAAAGGTCCTGAGGTTAACATGAGCTTGGCTTGTTGCAGTAGCAGAAAGAAGCCACAGTGTGGAACAGGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTG... | benign | 303,225 |
The mutation in gene RYR1 (ryanodine receptor 1) at chromosome 19, position 38455697—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'RYR1-related_disorder'] | TCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCT... | TCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCT... | pathogenic | 303,284 |
Does the chromosome 19 mutation at position 38457579 within gene RYR1 (ryanodine receptor 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Myopathy', 'RYR1-related_disorder'] | CTGGAGGCCTCGTCTGGTAGGAGAACCCGGGGGAGTGGGACAGAGGCTTGTGGGAGGGGATGGGCATGGCCGCTTCACCTCTCATTCTGGGCACCCTGGCAGGCATCCTGGAGGTCCTGTACTGTGTCCTCATTGAGAGTCCAGAGGTTCTGAACATCATCCAGGAGAATCACATCAAGTCCATCATCTCCCTCCTGGACAAGCATGGGAGGAACCACAAGGTCGGCCCCTCACCCCTGACCTCTCATCCCCTGAACTCTGAATGCTGGCCTCTCCCCAGGGCTCCAGAACTCTGCTCACTCCCTCACTTCCCTCCTCCA... | CTGGAGGCCTCGTCTGGTAGGAGAACCCGGGGGAGTGGGACAGAGGCTTGTGGGAGGGGATGGGCATGGCCGCTTCACCTCTCATTCTGGGCACCCTGGCAGGCATCCTGGAGGTCCTGTACTGTGTCCTCATTGAGAGTCCAGAGGTTCTGAACATCATCCAGGAGAATCACATCAAGTCCATCATCTCCCTCCTGGACAAGCATGGGAGGAACCACAAGGTCGGCCCCTCACCCCTGACCTCTCATCCCCTGAACTCTGAATGCTGGCCTCTCCCCAGGGCTCCAGAACTCTGCTCACTCCCTCACTTCCCTCCTCCA... | pathogenic | 303,295 |
Chromosome 19, position 38460434, gene RYR1 (ryanodine receptor 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'RYR1-related_disorder'] | GACTCCCTGAAAAGGTCAACTTTTGACCTTTTAGTCCTCATTTCCCAAGACCCTAACCCCAGAGCTTCTAGATTCCCGGCTCTGACTTGTATCCTCGTTACCTACAGAACTCTGATCCCAGAGTAGGTGTGACCTCTGACCCTAGATATCCCAGAAGACCACGCAGATTACTGTGATCTCTGATCTTTGACTTCTAACCCCAGGAGAATTTATTTATTTATTTATTTTGTTTGTTTGTTTGTTTGTTTGTTTATTTTGAAATGGAGTCTCACTCTGTCTCCTAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAA... | GACTCCCTGAAAAGGTCAACTTTTGACCTTTTAGTCCTCATTTCCCAAGACCCTAACCCCAGAGCTTCTAGATTCCCGGCTCTGACTTGTATCCTCGTTACCTACAGAACTCTGATCCCAGAGTAGGTGTGACCTCTGACCCTAGATATCCCAGAAGACCACGCAGATTACTGTGATCTCTGATCTTTGACTTCTAACCCCAGGAGAATTTATTTATTTATTTATTTTGTTTGTTTGTTTGTTTGTTTGTTTATTTTGAAATGGAGTCTCACTCTGTCTCCTAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAA... | pathogenic | 303,338 |
A genetic variant on chromosome 19, position 38460513, affects the gene RYR1 (ryanodine receptor 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Arthrogryposis_multiplex_congenita', 'Centronuclear_myopathy', 'Fetal_akinesia_deformation_sequence_1'] | CTCTGACTTGTATCCTCGTTACCTACAGAACTCTGATCCCAGAGTAGGTGTGACCTCTGACCCTAGATATCCCAGAAGACCACGCAGATTACTGTGATCTCTGATCTTTGACTTCTAACCCCAGGAGAATTTATTTATTTATTTATTTTGTTTGTTTGTTTGTTTGTTTGTTTATTTTGAAATGGAGTCTCACTCTGTCTCCTAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCC... | CTCTGACTTGTATCCTCGTTACCTACAGAACTCTGATCCCAGAGTAGGTGTGACCTCTGACCCTAGATATCCCAGAAGACCACGCAGATTACTGTGATCTCTGATCTTTGACTTCTAACCCCAGGAGAATTTATTTATTTATTTATTTTGTTTGTTTGTTTGTTTGTTTGTTTATTTTGAAATGGAGTCTCACTCTGTCTCCTAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCC... | pathogenic | 303,341 |
A mutation at chromosome position 38460514 on chromosome 19 in gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Central_core_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'Myopathy', 'RYR1-related_disorder'] | TCTGACTTGTATCCTCGTTACCTACAGAACTCTGATCCCAGAGTAGGTGTGACCTCTGACCCTAGATATCCCAGAAGACCACGCAGATTACTGTGATCTCTGATCTTTGACTTCTAACCCCAGGAGAATTTATTTATTTATTTATTTTGTTTGTTTGTTTGTTTGTTTGTTTATTTTGAAATGGAGTCTCACTCTGTCTCCTAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCC... | TCTGACTTGTATCCTCGTTACCTACAGAACTCTGATCCCAGAGTAGGTGTGACCTCTGACCCTAGATATCCCAGAAGACCACGCAGATTACTGTGATCTCTGATCTTTGACTTCTAACCCCAGGAGAATTTATTTATTTATTTATTTTGTTTGTTTGTTTGTTTGTTTGTTTATTTTGAAATGGAGTCTCACTCTGTCTCCTAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCC... | pathogenic | 303,342 |
Is the genetic variant on chromosome 19, position 38463408, gene RYR1 (ryanodine receptor 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TGTTTAACAGATGGAGAAACTGAGCACAGAGAGGCAAAGGATTCTGTCAGAGCAGAATCGCAGTCTCAGGGAGTCCTCACCACTGCCCCACAAAGAAAGGGTGGCTCACACCTGCGATCCTAGAACTCTGAGAGGCCGAGGCAGGATTGCTTGAGTCCACGAGTTTGAGACCAGCCTAGGCAACATAGCAAGACCCCATCTCTACTAAAAATTAAAAGTTAGCTGAGGTGATGGTCCACGACTGTAGTCCCAGCTACTTGGGAGGCTGAGATGGGAGGGTCACTTGAGCCCAGGGATTCGAGGCTGCAGTGAGCTATGAT... | TGTTTAACAGATGGAGAAACTGAGCACAGAGAGGCAAAGGATTCTGTCAGAGCAGAATCGCAGTCTCAGGGAGTCCTCACCACTGCCCCACAAAGAAAGGGTGGCTCACACCTGCGATCCTAGAACTCTGAGAGGCCGAGGCAGGATTGCTTGAGTCCACGAGTTTGAGACCAGCCTAGGCAACATAGCAAGACCCCATCTCTACTAAAAATTAAAAGTTAGCTGAGGTGATGGTCCACGACTGTAGTCCCAGCTACTTGGGAGGCTGAGATGGGAGGGTCACTTGAGCCCAGGGATTCGAGGCTGCAGTGAGCTATGAT... | benign | 303,351 |
For chromosome 19, position 38473406, gene RYR1 (ryanodine receptor 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['RYR1-related_disorder'] | GTCTCTACACAGAATAAACAAAATTATCTGGGCATGGTGGTATGTGCCTGTGGTCCCAGCCACTTGGGAGGCTGAAGTGGGAGGATTGTTTGAGCCCAGGATTTCGGGGCTGCAGTGAGCCGTGGTTGCACCACAGCACTCCAGCCCAGGTGACAGAGCAAGACCTGTCTCTAAGAAAAAAAGAGTGAATGCAGAAACCAGATTTATAAGACAGAGGGGAGAAAGAGGAGAGAAAAAAGACCCCTAAAGAGTCTGAGAACAGGCTGGGCTCGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCCGATGTGGGTGG... | GTCTCTACACAGAATAAACAAAATTATCTGGGCATGGTGGTATGTGCCTGTGGTCCCAGCCACTTGGGAGGCTGAAGTGGGAGGATTGTTTGAGCCCAGGATTTCGGGGCTGCAGTGAGCCGTGGTTGCACCACAGCACTCCAGCCCAGGTGACAGAGCAAGACCTGTCTCTAAGAAAAAAAGAGTGAATGCAGAAACCAGATTTATAAGACAGAGGGGAGAAAGAGGAGAGAAAAAAGACCCCTAAAGAGTCTGAGAACAGGCTGGGCTCGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCCGATGTGGGTGG... | pathogenic | 303,437 |
Clinically, how would you classify the variant at chromosome 19, position 38473573, gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Central_core_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'Congenital_myopathy_with_fiber_type_disproportion', 'King_Denborough_syndrome', 'Malignant_hyperthermia,_susceptibility_to,_1', 'RYR1-related_disorder'] | TCTCTAAGAAAAAAAGAGTGAATGCAGAAACCAGATTTATAAGACAGAGGGGAGAAAGAGGAGAGAAAAAAGACCCCTAAAGAGTCTGAGAACAGGCTGGGCTCGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCCGATGTGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTTCTAAAAATACAAAAAATTAGCCAGGCATGGTGCCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAAAAGTTGCAG... | TCTCTAAGAAAAAAAGAGTGAATGCAGAAACCAGATTTATAAGACAGAGGGGAGAAAGAGGAGAGAAAAAAGACCCCTAAAGAGTCTGAGAACAGGCTGGGCTCGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCCGATGTGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTTCTAAAAATACAAAAAATTAGCCAGGCATGGTGCCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAAAAGTTGCAG... | pathogenic | 303,452 |
Is the variant located on chromosome 19 at position 38473588, gene RYR1 (ryanodine receptor 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['RYR1-related_disorder'] | GAGTGAATGCAGAAACCAGATTTATAAGACAGAGGGGAGAAAGAGGAGAGAAAAAAGACCCCTAAAGAGTCTGAGAACAGGCTGGGCTCGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCCGATGTGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTTCTAAAAATACAAAAAATTAGCCAGGCATGGTGCCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAAAAGTTGCAGTCAGCCAAGATTGCA... | GAGTGAATGCAGAAACCAGATTTATAAGACAGAGGGGAGAAAGAGGAGAGAAAAAAGACCCCTAAAGAGTCTGAGAACAGGCTGGGCTCGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCCGATGTGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTTCTAAAAATACAAAAAATTAGCCAGGCATGGTGCCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAAAAGTTGCAGTCAGCCAAGATTGCA... | pathogenic | 303,455 |
A mutation at chromosome position 38478417 on chromosome 19 in gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TTGTGTTTTTAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGGTCTACCCGCCTCGGTCTCGCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTAATTTTTGTATTTTTGGTAGAAACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAATCCCCGACCTCAAATGATCCTACTGCCTCAGACTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGTTCGGCTGTAGATTCTTACAAGGAGTACTCACCCTAGGTGGCTTGGATCCCAGTACCAGCCCA... | TTGTGTTTTTAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGGTCTACCCGCCTCGGTCTCGCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTAATTTTTGTATTTTTGGTAGAAACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAATCCCCGACCTCAAATGATCCTACTGCCTCAGACTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGTTCGGCTGTAGATTCTTACAAGGAGTACTCACCCTAGGTGGCTTGGATCCCAGTACCAGCCCA... | benign | 303,500 |
Does the genetic variant at chromosome 19, position 38478460, impacting gene RYR1 (ryanodine receptor 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['RYR1-related_disorder'] | TGGTCTCAAACTCCTGACCTCGTGGTCTACCCGCCTCGGTCTCGCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTAATTTTTGTATTTTTGGTAGAAACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAATCCCCGACCTCAAATGATCCTACTGCCTCAGACTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGTTCGGCTGTAGATTCTTACAAGGAGTACTCACCCTAGGTGGCTTGGATCCCAGTACCAGCCCACAGCCTGGGGTTGGGGATCCCTGGCCTCGAGATTAGATCATGG... | TGGTCTCAAACTCCTGACCTCGTGGTCTACCCGCCTCGGTCTCGCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTAATTTTTGTATTTTTGGTAGAAACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAATCCCCGACCTCAAATGATCCTACTGCCTCAGACTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGTTCGGCTGTAGATTCTTACAAGGAGTACTCACCCTAGGTGGCTTGGATCCCAGTACCAGCCCACAGCCTGGGGTTGGGGATCCCTGGCCTCGAGATTAGATCATGG... | pathogenic | 303,502 |
Determine whether the variant at chromosome 19, position 38483079, in gene RYR1 (ryanodine receptor 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Central_core_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'Congenital_myopathy_with_fiber_type_disproportion', 'King_Denborough_syndrome', 'Malignant_hyperthermia,_susceptibility_to,_1', 'RYR1-related_disorder'] | TTATTTAATTATTTATTTTAATTTATTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGTGCGCAGTGGTGCCAACCGTACTCAACCTTATTTATTTATTTATTTTAATTTATTAAGACAGGGTCTCATTCTGTCACCCAGGCTGGTGCACAGTGGTGCAATCTTGGCTTACTGCAGCCTCAACCTCCTGGGATCAAACGATCCTCCCACCTCAGCCTCCCAAGTGGCTGGGACCACAGACACGCACTACCACACCTGGCTAATTTTTGTATTTTTTGTAGAGACGGTGTTTTGCCATGTTGCCCAGGCCAGTCTTGAAC... | TTATTTAATTATTTATTTTAATTTATTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGTGCGCAGTGGTGCCAACCGTACTCAACCTTATTTATTTATTTATTTTAATTTATTAAGACAGGGTCTCATTCTGTCACCCAGGCTGGTGCACAGTGGTGCAATCTTGGCTTACTGCAGCCTCAACCTCCTGGGATCAAACGATCCTCCCACCTCAGCCTCCCAAGTGGCTGGGACCACAGACACGCACTACCACACCTGGCTAATTTTTGTATTTTTTGTAGAGACGGTGTTTTGCCATGTTGCCCAGGCCAGTCTTGAAC... | pathogenic | 303,509 |
The mutation impacting RYR1 (ryanodine receptor 1) on chromosome 19 at position 38485732: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['RYR1-related_disorder'] | TATGTCCCAGGGGGATTCAGACTCAACGCAGGAGGCTCTACACCATCCCAGTGGACCGCAGGCCCACCCTAAGGGAACCCAGACAATACCCCAAGGACCCAGACCCACTCCACAGGGCCCCAAACCCATCTCAGGGAGCCAGACCCACATCAACACCCCAGGGGGCCCCAAGTACACCCCAGGATCCCTGGACATGATTCAGGGAGGCTTGGATGCACCCTAGAGTCTCTTGGGCATATGCAGGGAGGCTTTAAGAAGAATCCCGTGGATATTTCAAACCCACCCCAGGGGACCCAGACACACCTAGGGCCACAGATGCG... | TATGTCCCAGGGGGATTCAGACTCAACGCAGGAGGCTCTACACCATCCCAGTGGACCGCAGGCCCACCCTAAGGGAACCCAGACAATACCCCAAGGACCCAGACCCACTCCACAGGGCCCCAAACCCATCTCAGGGAGCCAGACCCACATCAACACCCCAGGGGGCCCCAAGTACACCCCAGGATCCCTGGACATGATTCAGGGAGGCTTGGATGCACCCTAGAGTCTCTTGGGCATATGCAGGGAGGCTTTAAGAAGAATCCCGTGGATATTTCAAACCCACCCCAGGGGACCCAGACACACCTAGGGCCACAGATGCG... | pathogenic | 303,535 |
Clinical classification of chromosome 19, position 38486099, gene RYR1 (ryanodine receptor 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Centronuclear_myopathy', 'RYR1-related_disorder'] | GCACAGTGCCTCACACCTGTAATCCCAGCACGTTGGGAGGCTGAGGCAGGCAGGTCACCTGAGGTCAGGAGTCTCTACTAAAAATACAAAAATTAGCCAGTTGTGGTGGTGTGCACCCATCGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATTGCTTAAACCCAGGAGGCGGAGGTTGCATTGAGCTAGGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATGCCATCTCAAAAAATAGAATTCTGAACGTGGGAGGAATCCCAGACTCACCCAGGAGGCTTCTGACATGCCTCTTTCTTTCTTTCCTT... | GCACAGTGCCTCACACCTGTAATCCCAGCACGTTGGGAGGCTGAGGCAGGCAGGTCACCTGAGGTCAGGAGTCTCTACTAAAAATACAAAAATTAGCCAGTTGTGGTGGTGTGCACCCATCGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATTGCTTAAACCCAGGAGGCGGAGGTTGCATTGAGCTAGGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATGCCATCTCAAAAAATAGAATTCTGAACGTGGGAGGAATCCCAGACTCACCCAGGAGGCTTCTGACATGCCTCTTTCTTTCTTTCCTT... | pathogenic | 303,560 |
Determine whether the variant at chromosome 19, position 38489293, in gene RYR1 (ryanodine receptor 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TCCATCTACCCGTTCCCTATCCTTCTCTCCATCCCTTGTATCATGTACCCTTTTATTCGTAGACCCATCTAACTATTCATTTATATATCCATCTTTTTGGTTTTGTTTGTGTGTTTGTTTGTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGAAGAGTGCAGTGGAGCAATCTCAAATCACTGCAACCTCCGCTTCCCATGTTCAAGAGATTCTTCTGCCTCAGCCTCCCAAGTAGATGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAG... | TCCATCTACCCGTTCCCTATCCTTCTCTCCATCCCTTGTATCATGTACCCTTTTATTCGTAGACCCATCTAACTATTCATTTATATATCCATCTTTTTGGTTTTGTTTGTGTGTTTGTTTGTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGAAGAGTGCAGTGGAGCAATCTCAAATCACTGCAACCTCCGCTTCCCATGTTCAAGAGATTCTTCTGCCTCAGCCTCCCAAGTAGATGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAG... | benign | 303,574 |
For chromosome 19, position 38496852, gene RYR1 (ryanodine receptor 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Centronuclear_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'RYR1-related_disorder'] | AGCAGCTCCGCTTCTGTGTGACTCTCAGCAGGACATTCCCCACCCCCCCCTTTTTTTTTTTTTTTGTGAGACTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCATACCAGGCTAATTTTTTATATTTAGTAGAGACAGGGTTTCACCATGTTGATCAGACTAGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA... | AGCAGCTCCGCTTCTGTGTGACTCTCAGCAGGACATTCCCCACCCCCCCCTTTTTTTTTTTTTTTGTGAGACTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCATACCAGGCTAATTTTTTATATTTAGTAGAGACAGGGTTTCACCATGTTGATCAGACTAGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA... | pathogenic | 303,662 |
Gene RYR1 (ryanodine receptor 1) variant at chromosome position 38499145 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['RYR1-related_disorder'] | CAGGGAGAGAACGGCACCCAGTTGTTCATTCATGGGATGCTTCCTGGCTGTGGGCCGGTCCGCACTCCACGCTTCCCGTCTGGGGGCAGGTCCACAGTCTACGCTTCCGGGATGGGGGCGGATCCGCACTCTAACTTCCAGGCTGGGGGCGGATCCGCAGTCTACACTTCCGGGCTGGGGGCGGATCCGCACGCTACGCTTCCGGGTTGGGGGCCGATCCACAGTCTAGGCTTCCAGCCAGGTGGCCTTGGCACATTTCTTCGCTCTCCGAGCTTCCACTTCTGTGTACAGTGGTGAAATGCGTGGGCTCCAGACTTCAG... | CAGGGAGAGAACGGCACCCAGTTGTTCATTCATGGGATGCTTCCTGGCTGTGGGCCGGTCCGCACTCCACGCTTCCCGTCTGGGGGCAGGTCCACAGTCTACGCTTCCGGGATGGGGGCGGATCCGCACTCTAACTTCCAGGCTGGGGGCGGATCCGCAGTCTACACTTCCGGGCTGGGGGCGGATCCGCACGCTACGCTTCCGGGTTGGGGGCCGATCCACAGTCTAGGCTTCCAGCCAGGTGGCCTTGGCACATTTCTTCGCTCTCCGAGCTTCCACTTCTGTGTACAGTGGTGAAATGCGTGGGCTCCAGACTTCAG... | pathogenic | 303,670 |
Mutation at chromosome 19, position 38499644, within RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'Malignant_hyperthermia,_susceptibility_to,_1', 'RYR1-related_disorder', 'desflurane_response_-_Toxicity', 'enflurane_response_-_Toxicity', 'halothane_response_-_Toxicity', 'isoflurane_response_-_Toxicity', 'methoxyflurane_response_-_Toxicity',... | AACGTTAGCTGCTGTTATATTATCATTCAACAAATATGTAGTGTTAGCTTACCATATGCAAAGCAGTAGCAATATGACAGTCAAAAATCCCTGTCTGGCCAGGCAAAGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTAAGCTCAGGAGTTTAAGACCAGCCTGGACAATATAGGGACACCTTGTCTCTACAAAAAATACAAAAAGTAGGTGGGTGTAGTGGCACGTAACTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTTGATAGAGCCTGCGAGGCTGAGGCTGC... | AACGTTAGCTGCTGTTATATTATCATTCAACAAATATGTAGTGTTAGCTTACCATATGCAAAGCAGTAGCAATATGACAGTCAAAAATCCCTGTCTGGCCAGGCAAAGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTAAGCTCAGGAGTTTAAGACCAGCCTGGACAATATAGGGACACCTTGTCTCTACAAAAAATACAAAAAGTAGGTGGGTGTAGTGGCACGTAACTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTTGATAGAGCCTGCGAGGCTGAGGCTGC... | pathogenic | 303,683 |
Is the chromosome 19, position 38500834 variant in RYR1 (ryanodine receptor 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic | GGGTTTTGGCCGGCTTCTTTACTGCAGCCTATTTTATCAGCAAGGACTTTATGACCTGTATCTTGTGCCAACCTTCTATCTTGTTCTGTGACTTAGAATGCCTTAACCATCTGGGAATGCAGCCCAGTAGGTCTCAAGCTCCTGTTCAAGATGGAGTTGCTGTAGTTTACAGGCCTCTGACAGGACCAGGGCTAATGGGCCGAGGGATCAGAGCTGAACCGGACTGAGGAGCCGCAGGGCAGGGCAGGGCAGGGCAGAGGGCTGAGCCCCAGGAGGAAGGTGGCATGGGTCTGGTCTCTGACTGAGCCCCTTCTGCCCCC... | GGGTTTTGGCCGGCTTCTTTACTGCAGCCTATTTTATCAGCAAGGACTTTATGACCTGTATCTTGTGCCAACCTTCTATCTTGTTCTGTGACTTAGAATGCCTTAACCATCTGGGAATGCAGCCCAGTAGGTCTCAAGCTCCTGTTCAAGATGGAGTTGCTGTAGTTTACAGGCCTCTGACAGGACCAGGGCTAATGGGCCGAGGGATCAGAGCTGAACCGGACTGAGGAGCCGCAGGGCAGGGCAGGGCAGGGCAGAGGGCTGAGCCCCAGGAGGAAGGTGGCATGGGTCTGGTCTCTGACTGAGCCCCTTCTGCCCCC... | pathogenic | 303,738 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 38504245, gene RYR1 (ryanodine receptor 1): what disease(s) if pathogenic? | pathogenic; ['Central_core_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'Congenital_myopathy_with_fiber_type_disproportion', 'King_Denborough_syndrome', 'Malignant_hyperthermia,_susceptibility_to,_1', 'RYR1-related_disorder'] | TAGAGAGGAGATAAGCGTGCAGACCATTGATATTTACAGAAGAGCCAAATCTGTAATGGGGTTCATTAATCTCATCGACCAGTTGTGTGTGTTTGAAATTTTGCATAATCCAAAGTAGTAAGTGGTGGGGTGGGGGCTGTGGGCATAGGGGTGTGGGCATAGGGTGGGAGGAGGGTGGTAGAGATTGGGAGGAGCAGGTTTTGGGGGAGTCATCAGAAGCTTGGATCCTTTGGCCACAGTCGCTCAAGACAGGTGCCAGAGCAGCCCCAGGGGTGTGCAGCGGGCCTGATGTCCTCACCCTGCGCCCTAGGCCACTTTCA... | TAGAGAGGAGATAAGCGTGCAGACCATTGATATTTACAGAAGAGCCAAATCTGTAATGGGGTTCATTAATCTCATCGACCAGTTGTGTGTGTTTGAAATTTTGCATAATCCAAAGTAGTAAGTGGTGGGGTGGGGGCTGTGGGCATAGGGGTGTGGGCATAGGGTGGGAGGAGGGTGGTAGAGATTGGGAGGAGCAGGTTTTGGGGGAGTCATCAGAAGCTTGGATCCTTTGGCCACAGTCGCTCAAGACAGGTGCCAGAGCAGCCCCAGGGGTGTGCAGCGGGCCTGATGTCCTCACCCTGCGCCCTAGGCCACTTTCA... | pathogenic | 303,830 |
Evaluate the clinical significance of the mutation at chromosome 19, position 38504262 in gene RYR1 (ryanodine receptor 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['RYR1-related_disorder'] | TGCAGACCATTGATATTTACAGAAGAGCCAAATCTGTAATGGGGTTCATTAATCTCATCGACCAGTTGTGTGTGTTTGAAATTTTGCATAATCCAAAGTAGTAAGTGGTGGGGTGGGGGCTGTGGGCATAGGGGTGTGGGCATAGGGTGGGAGGAGGGTGGTAGAGATTGGGAGGAGCAGGTTTTGGGGGAGTCATCAGAAGCTTGGATCCTTTGGCCACAGTCGCTCAAGACAGGTGCCAGAGCAGCCCCAGGGGTGTGCAGCGGGCCTGATGTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCG... | TGCAGACCATTGATATTTACAGAAGAGCCAAATCTGTAATGGGGTTCATTAATCTCATCGACCAGTTGTGTGTGTTTGAAATTTTGCATAATCCAAAGTAGTAAGTGGTGGGGTGGGGGCTGTGGGCATAGGGGTGTGGGCATAGGGTGGGAGGAGGGTGGTAGAGATTGGGAGGAGCAGGTTTTGGGGGAGTCATCAGAAGCTTGGATCCTTTGGCCACAGTCGCTCAAGACAGGTGCCAGAGCAGCCCCAGGGGTGTGCAGCGGGCCTGATGTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCG... | pathogenic | 303,833 |
Mutation found at chromosome 19 position 38504715, gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GTCGTTCGCTCACCAAGGCGCAGCGTGACGTCATCGAGGACTGCCTCATGTCGCTCTGCAGGTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGCAGAGCGGGCCTGGACGGGGGATTCTACATCTTGTGCATTGTCCCGCAGGTACATCCGCCCGTCGATGCTGCAGCACCTGTTGCGCCGCCTGGTGTTCGACGTGCCCATCCTCAACGAGTTCGCCAAGATGCCACTCAAGGTGAGGGCAAGCGCTC... | GTCGTTCGCTCACCAAGGCGCAGCGTGACGTCATCGAGGACTGCCTCATGTCGCTCTGCAGGTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGCAGAGCGGGCCTGGACGGGGGATTCTACATCTTGTGCATTGTCCCGCAGGTACATCCGCCCGTCGATGCTGCAGCACCTGTTGCGCCGCCTGGTGTTCGACGTGCCCATCCTCAACGAGTTCGCCAAGATGCCACTCAAGGTGAGGGCAAGCGCTC... | benign | 303,845 |
Evaluate the clinical significance of the mutation at chromosome 19, position 38504810 in gene RYR1 (ryanodine receptor 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Central_core_myopathy', 'RYR1-related_disorder'] | CAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGCAGAGCGGGCCTGGACGGGGGATTCTACATCTTGTGCATTGTCCCGCAGGTACATCCGCCCGTCGATGCTGCAGCACCTGTTGCGCCGCCTGGTGTTCGACGTGCCCATCCTCAACGAGTTCGCCAAGATGCCACTCAAGGTGAGGGCAAGCGCTCTTTAGCATCTCATTTCCAGGCCGCACCCACTGGTTTGCTCTTCCCTCCTACTGCGGGGCTCATTTGTGTCGGCACTGCCCAGCCCAATAAACCTG... | CAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGCAGAGCGGGCCTGGACGGGGGATTCTACATCTTGTGCATTGTCCCGCAGGTACATCCGCCCGTCGATGCTGCAGCACCTGTTGCGCCGCCTGGTGTTCGACGTGCCCATCCTCAACGAGTTCGCCAAGATGCCACTCAAGGTGAGGGCAAGCGCTCTTTAGCATCTCATTTCCAGGCCGCACCCACTGGTTTGCTCTTCCCTCCTACTGCGGGGCTCATTTGTGTCGGCACTGCCCAGCCCAATAAACCTG... | pathogenic | 303,853 |
Considering the variant on chromosome 19, location 38505338, involving gene RYR1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Central_core_myopathy', 'Centronuclear_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'King_Denborough_syndrome', 'Malignant_hyperthermia,_susceptibility_to,_1', 'RYR1-related_disorder'] | CCTGGACCACCAGACTTCCACTATTCAAATGAGTGCATTTATTTGAATAAACATTATCACAGCTATTCTGAATATTTGCACACTGTCTCTCTTATTTTTTCATTTGCATGCTAATTTGCATAAAGAGATACCCCCAACTCAGATATTTTGACTATTTTGCATAATACATCGAAATCAGCTCCTATTTCAAATTTGCATTTTAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTAC... | CCTGGACCACCAGACTTCCACTATTCAAATGAGTGCATTTATTTGAATAAACATTATCACAGCTATTCTGAATATTTGCACACTGTCTCTCTTATTTTTTCATTTGCATGCTAATTTGCATAAAGAGATACCCCCAACTCAGATATTTTGACTATTTTGCATAATACATCGAAATCAGCTCCTATTTCAAATTTGCATTTTAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTAC... | pathogenic | 303,874 |
Determine whether the variant at chromosome 19, position 38505945, in gene RYR1 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Central_core_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'King_Denborough_syndrome', 'Malignant_hyperthermia,_susceptibility_to,_1', 'RYR1-related_disorder'] | ATCCATATGCCCATTTACTCACTACATACCCATGGATTAATATTAGCACGCTTATTTGTGTAAAGCAATACCAGACACAACCAGCTCTAGTTTAATGCCCATTTTAACTCTAAATTAAGAATGCTAAATTTGCATACTAAGCTGTCTAGGACCACTCCTCAATAAACATACCATTTCTTCCCTTATTAGCATATCATTTGCATAACCCACACCTCCTTCATAATTTAAAAGCACTGGCATGCCTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCATTCGCTGGTGCCCCCCTCATTTGTGTGTCCCCCTCTTGTTCCCACC... | ATCCATATGCCCATTTACTCACTACATACCCATGGATTAATATTAGCACGCTTATTTGTGTAAAGCAATACCAGACACAACCAGCTCTAGTTTAATGCCCATTTTAACTCTAAATTAAGAATGCTAAATTTGCATACTAAGCTGTCTAGGACCACTCCTCAATAAACATACCATTTCTTCCCTTATTAGCATATCATTTGCATAACCCACACCTCCTTCATAATTTAAAAGCACTGGCATGCCTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCATTCGCTGGTGCCCCCCTCATTTGTGTGTCCCCCTCTTGTTCCCACC... | pathogenic | 303,889 |
Is the variant located on chromosome 19 at position 38507824, gene RYR1 (ryanodine receptor 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Central_core_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'Congenital_myopathy_with_fiber_type_disproportion', 'King_Denborough_syndrome', 'Malignant_hyperthermia,_susceptibility_to,_1', 'RYR1-related_disorder'] | ACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAA... | ACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAA... | pathogenic | 303,933 |
The mutation impacting RYR1 (ryanodine receptor 1) on chromosome 19 at position 38507857: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGG... | AAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGG... | benign | 303,934 |
Located at chromosome 19 position 38511551, the variant affecting gene RYR1 (ryanodine receptor 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | ACTGCAGTGGCGCGATCTCAGCTCACTGCAGGCTCCGCCTCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGTTAATTTTTTGTGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCAGTATTATTATTTTAATAGTATCAGTTATGACTGTCACCATTATTATTGTTTGAAATTTATTTCC... | ACTGCAGTGGCGCGATCTCAGCTCACTGCAGGCTCCGCCTCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGTTAATTTTTTGTGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCAGTATTATTATTTTAATAGTATCAGTTATGACTGTCACCATTATTATTGTTTGAAATTTATTTCC... | benign | 303,949 |
Benign or pathogenic: chromosome 19, position 38511598, gene RYR1 (ryanodine receptor 1) variant? Disease(s) if pathogenic? | pathogenic; ['Malignant_hyperthermia,_susceptibility_to,_1', 'Myopathy,_RYR1-associated', 'RYR1-related_disorder'] | CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGTTAATTTTTTGTGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCAGTATTATTATTTTAATAGTATCAGTTATGACTGTCACCATTATTATTGTTTGAAATTTATTTCCATTTTGAAATTAACTCTAATTTGTTTACATTGACTTCTTGTTTCATT... | CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGTTAATTTTTTGTGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCAGTATTATTATTTTAATAGTATCAGTTATGACTGTCACCATTATTATTGTTTGAAATTTATTTCCATTTTGAAATTAACTCTAATTTGTTTACATTGACTTCTTGTTTCATT... | pathogenic | 303,951 |
Evaluate the clinical significance of the mutation at chromosome 19, position 38517571 in gene RYR1 (ryanodine receptor 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'RYR1-related_disorder'] | GCGCGGTGGCTCACACCTGTGAGCACTTTGGGAGGCTGAGGCGGGAAGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACTCCATCTCTACAAAAAAAAATTTTTTTTAATTAGCCTGGTGTGGTGTGGTGTAGTGGCGCTGGTGCCTGTAAATCCACCTACTCCTAAGGCTGAGATGGGGGGATCGCTTGAGCTCCAGCCTGAGCAGCATAGGGAGACTGCATCTCTACAAAAACGACTTTTTTTAAAACTAGCTAGGCATGGTATGGTGTGTGCCTGTAATCCCAGCGACTCAGGAGGCTG... | GCGCGGTGGCTCACACCTGTGAGCACTTTGGGAGGCTGAGGCGGGAAGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACTCCATCTCTACAAAAAAAAATTTTTTTTAATTAGCCTGGTGTGGTGTGGTGTAGTGGCGCTGGTGCCTGTAAATCCACCTACTCCTAAGGCTGAGATGGGGGGATCGCTTGAGCTCCAGCCTGAGCAGCATAGGGAGACTGCATCTCTACAAAAACGACTTTTTTTAAAACTAGCTAGGCATGGTATGGTGTGTGCCTGTAATCCCAGCGACTCAGGAGGCTG... | pathogenic | 304,008 |
Is chromosome 19, position 38517653, gene RYR1 (ryanodine receptor 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['RYR1-related_disorder'] | GCAACATAGTGAGACTCCATCTCTACAAAAAAAAATTTTTTTTAATTAGCCTGGTGTGGTGTGGTGTAGTGGCGCTGGTGCCTGTAAATCCACCTACTCCTAAGGCTGAGATGGGGGGATCGCTTGAGCTCCAGCCTGAGCAGCATAGGGAGACTGCATCTCTACAAAAACGACTTTTTTTAAAACTAGCTAGGCATGGTATGGTGTGTGCCTGTAATCCCAGCGACTCAGGAGGCTGAGGTGGGAGGATCACTTGAACCCAGGAATGTGAGGTTGCTGTGAGCCAAGATCAGGCCACTGCACTGCAGCCTGAGTAACAG... | GCAACATAGTGAGACTCCATCTCTACAAAAAAAAATTTTTTTTAATTAGCCTGGTGTGGTGTGGTGTAGTGGCGCTGGTGCCTGTAAATCCACCTACTCCTAAGGCTGAGATGGGGGGATCGCTTGAGCTCCAGCCTGAGCAGCATAGGGAGACTGCATCTCTACAAAAACGACTTTTTTTAAAACTAGCTAGGCATGGTATGGTGTGTGCCTGTAATCCCAGCGACTCAGGAGGCTGAGGTGGGAGGATCACTTGAACCCAGGAATGTGAGGTTGCTGTGAGCCAAGATCAGGCCACTGCACTGCAGCCTGAGTAACAG... | pathogenic | 304,013 |
Clinical significance of chromosome 19, position 38523128, gene RYR1 (ryanodine receptor 1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GCCTAGGCAACATGGCTAGACCCTGTCTCTACAAAAAAAGAAAAGAAATACAAAAATTAGTCAGGCATGGTGACACACACCTGTAGTCCTTGCCTCAGGCTGGGACTGGGAGGCTGAGGTGGGAGGATCGTTTGAGCCCAGGAGGTCAAAGCTGCAGTGAGCTATGATCACACCGCTGCACTCCAACCTGGGCAACAGAGATAGACCCTGTCTCAATAAGGTTTGTTTTTTTTTAATACAAGTAAATGAATAAAATAAAATATGTGAACCTACTTAGATTCTGACCCTGTCTCAAAAAAAAAAGAAATTTTATGCTGGGT... | GCCTAGGCAACATGGCTAGACCCTGTCTCTACAAAAAAAGAAAAGAAATACAAAAATTAGTCAGGCATGGTGACACACACCTGTAGTCCTTGCCTCAGGCTGGGACTGGGAGGCTGAGGTGGGAGGATCGTTTGAGCCCAGGAGGTCAAAGCTGCAGTGAGCTATGATCACACCGCTGCACTCCAACCTGGGCAACAGAGATAGACCCTGTCTCAATAAGGTTTGTTTTTTTTTAATACAAGTAAATGAATAAAATAAAATATGTGAACCTACTTAGATTCTGACCCTGTCTCAAAAAAAAAAGAAATTTTATGCTGGGT... | benign | 304,052 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 38523923, gene RYR1 (ryanodine receptor 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Central_core_myopathy', 'RYR1-related_disorder'] | TTTTTTGTATTTTTTAGTAGAGATGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCTGAAAGAAAAAATTTTAAAAAGTTTTTAGCCTAGAAGTTAGAATATGGATGATTTTTCAGGAGGAGGAAGGGGGAGTGGCTGGGAGGGGCCATGATAGTACTTCCAGGGACCAGAAATGTCCTATTTCTTGACTTCGGTGCTGGCTACACAAGTGTGTTCATTTGTGATAATTCACCAGGTTGATATT... | TTTTTTGTATTTTTTAGTAGAGATGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCTGAAAGAAAAAATTTTAAAAAGTTTTTAGCCTAGAAGTTAGAATATGGATGATTTTTCAGGAGGAGGAAGGGGGAGTGGCTGGGAGGGGCCATGATAGTACTTCCAGGGACCAGAAATGTCCTATTTCTTGACTTCGGTGCTGGCTACACAAGTGTGTTCATTTGTGATAATTCACCAGGTTGATATT... | pathogenic | 304,064 |
A mutation at chromosome position 38527629 on chromosome 19 in gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | ACCACAATGCCACTGAGCCCCCCAGGTCCCTGGGAGCCTTCCCTTCAGACCCCACTGAGTTCTTTTCCGGGATGCTGAGGACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCC... | ACCACAATGCCACTGAGCCCCCCAGGTCCCTGGGAGCCTTCCCTTCAGACCCCACTGAGTTCTTTTCCGGGATGCTGAGGACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCC... | benign | 304,084 |
Is the chromosome 19, position 38527634 variant in RYR1 (ryanodine receptor 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AATGCCACTGAGCCCCCCAGGTCCCTGGGAGCCTTCCCTTCAGACCCCACTGAGTTCTTTTCCGGGATGCTGAGGACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTG... | AATGCCACTGAGCCCCCCAGGTCCCTGGGAGCCTTCCCTTCAGACCCCACTGAGTTCTTTTCCGGGATGCTGAGGACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTG... | benign | 304,086 |
The chromosome 19, position 38527683 genetic variant in gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['RYR1-related_disorder'] | CTGAGTTCTTTTCCGGGATGCTGAGGACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTG... | CTGAGTTCTTTTCCGGGATGCTGAGGACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTG... | pathogenic | 304,092 |
The mutation in gene RYR1 (ryanodine receptor 1) at chromosome 19, position 38527708—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['RYR1-related_disorder'] | GACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTGAACCTCTGGGTTCCTGCTGAGCCCT... | GACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTGAACCTCTGGGTTCCTGCTGAGCCCT... | pathogenic | 304,095 |
Evaluate this variant at chromosome 19, position 38528587, gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GTCCTAGAACCCCAGTGAACCCCCACCCTGCTGATGCCCCCTTTGGCCCCTGTGTAACCAGTGACTCCGTTGACCTACGTGATCCCCCATGACCTCTGCTGACCCCTTCTGATCTTCAAAGACTCCCTGCCCCACTCTGACCCCCCAGTCATCCCTCTTTGGCCATATTTGACCTTTGATGAGATCCTCTTGTCACCCTTTGCCTCTTCCCAGACCTCCACGAGGCCCCTCGAATCCTTACTGTATCTTCAAGGTGACTCTGTGACCCTCCGGCCCCTCTAGGACCCCTTCTGACCCCGTCAACCTCTGCATCCTTTTGT... | GTCCTAGAACCCCAGTGAACCCCCACCCTGCTGATGCCCCCTTTGGCCCCTGTGTAACCAGTGACTCCGTTGACCTACGTGATCCCCCATGACCTCTGCTGACCCCTTCTGATCTTCAAAGACTCCCTGCCCCACTCTGACCCCCCAGTCATCCCTCTTTGGCCATATTTGACCTTTGATGAGATCCTCTTGTCACCCTTTGCCTCTTCCCAGACCTCCACGAGGCCCCTCGAATCCTTACTGTATCTTCAAGGTGACTCTGTGACCCTCCGGCCCCTCTAGGACCCCTTCTGACCCCGTCAACCTCTGCATCCTTTTGT... | benign | 304,111 |
Is the chromosome 19, position 38532658 variant in RYR1 (ryanodine receptor 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AGACTTCAGGACTGGGCAGTGGCACAGGGACACTGACAGGGGCCCAGGGTCTTTCTAGCTTTCTGCTCTGCCCTTCTTAGCTTTTGTCTGTAGTCCTGGGTGGATGCTGCACTTCTAGGCATCACAGCCACATGCCAGGCAGAAAGAAGGACAAAGGGTCCCCACTCTTCACCCTCAGCAAGATCTTTGGTCTCTCTCTCTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCGCTGCAATCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGA... | AGACTTCAGGACTGGGCAGTGGCACAGGGACACTGACAGGGGCCCAGGGTCTTTCTAGCTTTCTGCTCTGCCCTTCTTAGCTTTTGTCTGTAGTCCTGGGTGGATGCTGCACTTCTAGGCATCACAGCCACATGCCAGGCAGAAAGAAGGACAAAGGGTCCCCACTCTTCACCCTCAGCAAGATCTTTGGTCTCTCTCTCTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCGCTGCAATCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGA... | benign | 304,128 |
Benign or pathogenic: chromosome 19, position 38534774, gene RYR1 (ryanodine receptor 1) variant? Disease(s) if pathogenic? | pathogenic | TCTCCTTTGAGGTAGGTGGGCTCAGGAGGTCCTGGAGGGAAGGGATGGGGGACCCTGACTGCAGTCATCTCCCATTCATTCAGCATGTGTTCACAGAGCAAAGCTCTGGGGACACAGCAGTGACCAAGTCAGTCCACTGGGGAGACAGATACACCCGCCAAACTAACACCACGGAGTGTACACCATGGTCATGGGGGAAGCTCAGGCAGAGGGGTCAGGGCTGGAATTGGGGAGGCTCAGGCAGAGGGGTCAGGGCTGGGATTGAGGAGGCTCAGGCAGAGGGGTCAGGGTTGGGATGATGGGGATACAGGCAGAGGGGT... | TCTCCTTTGAGGTAGGTGGGCTCAGGAGGTCCTGGAGGGAAGGGATGGGGGACCCTGACTGCAGTCATCTCCCATTCATTCAGCATGTGTTCACAGAGCAAAGCTCTGGGGACACAGCAGTGACCAAGTCAGTCCACTGGGGAGACAGATACACCCGCCAAACTAACACCACGGAGTGTACACCATGGTCATGGGGGAAGCTCAGGCAGAGGGGTCAGGGCTGGAATTGGGGAGGCTCAGGCAGAGGGGTCAGGGCTGGGATTGAGGAGGCTCAGGCAGAGGGGTCAGGGTTGGGATGATGGGGATACAGGCAGAGGGGT... | pathogenic | 304,135 |
Determine if the mutation at chromosome 19, position 38534774 in gene RYR1 (ryanodine receptor 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['RYR1-related_disorder'] | TCTCCTTTGAGGTAGGTGGGCTCAGGAGGTCCTGGAGGGAAGGGATGGGGGACCCTGACTGCAGTCATCTCCCATTCATTCAGCATGTGTTCACAGAGCAAAGCTCTGGGGACACAGCAGTGACCAAGTCAGTCCACTGGGGAGACAGATACACCCGCCAAACTAACACCACGGAGTGTACACCATGGTCATGGGGGAAGCTCAGGCAGAGGGGTCAGGGCTGGAATTGGGGAGGCTCAGGCAGAGGGGTCAGGGCTGGGATTGAGGAGGCTCAGGCAGAGGGGTCAGGGTTGGGATGATGGGGATACAGGCAGAGGGGT... | TCTCCTTTGAGGTAGGTGGGCTCAGGAGGTCCTGGAGGGAAGGGATGGGGGACCCTGACTGCAGTCATCTCCCATTCATTCAGCATGTGTTCACAGAGCAAAGCTCTGGGGACACAGCAGTGACCAAGTCAGTCCACTGGGGAGACAGATACACCCGCCAAACTAACACCACGGAGTGTACACCATGGTCATGGGGGAAGCTCAGGCAGAGGGGTCAGGGCTGGAATTGGGGAGGCTCAGGCAGAGGGGTCAGGGCTGGGATTGAGGAGGCTCAGGCAGAGGGGTCAGGGTTGGGATGATGGGGATACAGGCAGAGGGGT... | pathogenic | 304,136 |
Is the variant located on chromosome 19 at position 38535136, gene RYR1 (ryanodine receptor 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic | AACAAGGTGCCTGACCCAGCCTGCAGGAAAATGTATCAGGGAGGGCTTCTCGGAGGAGGGGACTTCTGAGCAGAAGGATAAAAGGAGCCTGCCAGTTGAAGAAAAAGAGAAAAATGTTCTACGTAGGGAGAATAGTATATGCCAAGGCCAGGCAGCAAGAAAGAGCTAGTAAACATGCAATTCACCGATCCATTCATTCATTGAGACAGTTAGCAAGCATTTACTTCATAGTTTTCTTCACTGTTTCTGTGCCAGAGTCCCTTCTGGCATCTGGTGAAGACTTTCTCAGGATCATGTTTTTAAATGTATAAAATGAATTC... | AACAAGGTGCCTGACCCAGCCTGCAGGAAAATGTATCAGGGAGGGCTTCTCGGAGGAGGGGACTTCTGAGCAGAAGGATAAAAGGAGCCTGCCAGTTGAAGAAAAAGAGAAAAATGTTCTACGTAGGGAGAATAGTATATGCCAAGGCCAGGCAGCAAGAAAGAGCTAGTAAACATGCAATTCACCGATCCATTCATTCATTGAGACAGTTAGCAAGCATTTACTTCATAGTTTTCTTCACTGTTTCTGTGCCAGAGTCCCTTCTGGCATCTGGTGAAGACTTTCTCAGGATCATGTTTTTAAATGTATAAAATGAATTC... | pathogenic | 304,140 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 38548246, gene RYR1 (ryanodine receptor 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['RYR1-related_disorder'] | TGTCTGCCAGCCTTCCCACTACCCATCACCTATCGAGCCCGTCCCCCAAGTGCCAACCCCACCCCCACAATCTTGTCTCTCTGCCCCTTCCCCTGCTTCCGAGGAACATGTCTGGACTCGGGTCCCCTCGGAGGTAAGAGGGGAGAAAACGGGTTTAGGCCCTGCTGGGTAGGTGAGGAGGGGGAGAAGCAACAGAGGTGGGGGAGGTGTATGCTGAGACCAGCCCTCACCGAGCTGGGATCTCTAGGACTCAAGCCAGATCGAGCTGCTGAAGGAGCTGCTGGATCTGCAGAAGGACATGGTGGTGATGTTGCTGTCGC... | TGTCTGCCAGCCTTCCCACTACCCATCACCTATCGAGCCCGTCCCCCAAGTGCCAACCCCACCCCCACAATCTTGTCTCTCTGCCCCTTCCCCTGCTTCCGAGGAACATGTCTGGACTCGGGTCCCCTCGGAGGTAAGAGGGGAGAAAACGGGTTTAGGCCCTGCTGGGTAGGTGAGGAGGGGGAGAAGCAACAGAGGTGGGGGAGGTGTATGCTGAGACCAGCCCTCACCGAGCTGGGATCTCTAGGACTCAAGCCAGATCGAGCTGCTGAAGGAGCTGCTGGATCTGCAGAAGGACATGGTGGTGATGTTGCTGTCGC... | pathogenic | 304,204 |
Regarding the variant found on chromosome 19 at position 38548250 in gene RYR1 (ryanodine receptor 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['RYR1-related_disorder'] | TGCCAGCCTTCCCACTACCCATCACCTATCGAGCCCGTCCCCCAAGTGCCAACCCCACCCCCACAATCTTGTCTCTCTGCCCCTTCCCCTGCTTCCGAGGAACATGTCTGGACTCGGGTCCCCTCGGAGGTAAGAGGGGAGAAAACGGGTTTAGGCCCTGCTGGGTAGGTGAGGAGGGGGAGAAGCAACAGAGGTGGGGGAGGTGTATGCTGAGACCAGCCCTCACCGAGCTGGGATCTCTAGGACTCAAGCCAGATCGAGCTGCTGAAGGAGCTGCTGGATCTGCAGAAGGACATGGTGGTGATGTTGCTGTCGCTACT... | TGCCAGCCTTCCCACTACCCATCACCTATCGAGCCCGTCCCCCAAGTGCCAACCCCACCCCCACAATCTTGTCTCTCTGCCCCTTCCCCTGCTTCCGAGGAACATGTCTGGACTCGGGTCCCCTCGGAGGTAAGAGGGGAGAAAACGGGTTTAGGCCCTGCTGGGTAGGTGAGGAGGGGGAGAAGCAACAGAGGTGGGGGAGGTGTATGCTGAGACCAGCCCTCACCGAGCTGGGATCTCTAGGACTCAAGCCAGATCGAGCTGCTGAAGGAGCTGCTGGATCTGCAGAAGGACATGGTGGTGATGTTGCTGTCGCTACT... | pathogenic | 304,205 |
The mutation impacting RYR1 (ryanodine receptor 1) on chromosome 19 at position 38565311: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Central_core_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'Congenital_myopathy_with_fiber_type_disproportion', 'King_Denborough_syndrome', 'Malignant_hyperthermia,_susceptibility_to,_1'] | CTACGGTGTTGTTGTTGTTTGAGACAGAGTTTCGCTCTTGTTGACCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTCAACCTCCACCTCCTGGGTTCAAGCGGTTTTCCTGTCTCAGCCTCCTGAGTAGCTGAGATTACAGCCATGTGCAACCATGCCCACCTAATTTTTATATTTTCAGTAGAGGCGGGGTTTTGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATC... | CTACGGTGTTGTTGTTGTTTGAGACAGAGTTTCGCTCTTGTTGACCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTCAACCTCCACCTCCTGGGTTCAAGCGGTTTTCCTGTCTCAGCCTCCTGAGTAGCTGAGATTACAGCCATGTGCAACCATGCCCACCTAATTTTTATATTTTCAGTAGAGGCGGGGTTTTGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATC... | pathogenic | 304,257 |
Considering the genetic mutation at chromosome 19, position 38565341, impacting RYR1 (ryanodine receptor 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Central_core_myopathy', 'Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber', 'RYR1-related_disorder', 'RYR1-related_myopathy'] | TTCGCTCTTGTTGACCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTCAACCTCCACCTCCTGGGTTCAAGCGGTTTTCCTGTCTCAGCCTCCTGAGTAGCTGAGATTACAGCCATGTGCAACCATGCCCACCTAATTTTTATATTTTCAGTAGAGGCGGGGTTTTGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATCAGGCACCGGGCGCTGTTCTAATCATGCAGC... | TTCGCTCTTGTTGACCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTCAACCTCCACCTCCTGGGTTCAAGCGGTTTTCCTGTCTCAGCCTCCTGAGTAGCTGAGATTACAGCCATGTGCAACCATGCCCACCTAATTTTTATATTTTCAGTAGAGGCGGGGTTTTGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATCAGGCACCGGGCGCTGTTCTAATCATGCAGC... | pathogenic | 304,260 |
Evaluate this variant at chromosome 19, position 38565368, gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'RYR1-related_disorder'] | CAATGGCACGATCTCAGCTCACTCAACCTCCACCTCCTGGGTTCAAGCGGTTTTCCTGTCTCAGCCTCCTGAGTAGCTGAGATTACAGCCATGTGCAACCATGCCCACCTAATTTTTATATTTTCAGTAGAGGCGGGGTTTTGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATCAGGCACCGGGCGCTGTTCTAATCATGCAGCATCTATTAACTCATTTAACCCTCACAC... | CAATGGCACGATCTCAGCTCACTCAACCTCCACCTCCTGGGTTCAAGCGGTTTTCCTGTCTCAGCCTCCTGAGTAGCTGAGATTACAGCCATGTGCAACCATGCCCACCTAATTTTTATATTTTCAGTAGAGGCGGGGTTTTGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATCAGGCACCGGGCGCTGTTCTAATCATGCAGCATCTATTAACTCATTTAACCCTCACAC... | pathogenic | 304,261 |
Mutation found at chromosome 19 position 38565551, gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Congenital_multicore_myopathy_with_external_ophthalmoplegia'] | GATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATCAGGCACCGGGCGCTGTTCTAATCATGCAGCATCTATTAACTCATTTAACCCTCACACCAACCCTATAATGTAGGTCCTATTATGCCCATTTTACAGAGGGGAAAACGGAGGTCCAGAGAGTTAATTCAAAATCACCCAGCTACTCAGTGGCAGAATCAGGATTTGAACCCAGGCAGGCTGGCTGCAGAGCCTTTGCCTTTAAGCACTATGCTCCTCCTCTCAAGGAAGCTAAACACATCC... | GATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATCAGGCACCGGGCGCTGTTCTAATCATGCAGCATCTATTAACTCATTTAACCCTCACACCAACCCTATAATGTAGGTCCTATTATGCCCATTTTACAGAGGGGAAAACGGAGGTCCAGAGAGTTAATTCAAAATCACCCAGCTACTCAGTGGCAGAATCAGGATTTGAACCCAGGCAGGCTGGCTGCAGAGCCTTTGCCTTTAAGCACTATGCTCCTCCTCTCAAGGAAGCTAAACACATCC... | pathogenic | 304,265 |
The mutation in gene RYR1 (ryanodine receptor 1) at chromosome 19, position 38567865—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['RYR1-related_disorder'] | TGGAGGGAGGAAGAGAGCCCGGCTGGGTGGAGACACACACAGAGGAGAGAACTGGCTAGGGGGATGGGCACACGCACCCACGGAGGACGCACCCATGGAGGACGCACACGGGGACAGCGGGCGCCGGGCAAGAGAGACGCTCAGAGACAGAGGGATACTCAGACCCACAGAGAAAGAGACTCAGAGATGGAGACCTGGAGAAAGGGCCGGGGAGAGAGAGTGCAGGGCCGGACAGAGTGCAGGGCCGGACAGAGTGCAGGGCCCGGAGAGGTAGAGAAAATGATACCTGCAGAGCCAGAGAGAGTAAGAAACCCAGAGAC... | TGGAGGGAGGAAGAGAGCCCGGCTGGGTGGAGACACACACAGAGGAGAGAACTGGCTAGGGGGATGGGCACACGCACCCACGGAGGACGCACCCATGGAGGACGCACACGGGGACAGCGGGCGCCGGGCAAGAGAGACGCTCAGAGACAGAGGGATACTCAGACCCACAGAGAAAGAGACTCAGAGATGGAGACCTGGAGAAAGGGCCGGGGAGAGAGAGTGCAGGGCCGGACAGAGTGCAGGGCCGGACAGAGTGCAGGGCCCGGAGAGGTAGAGAAAATGATACCTGCAGAGCCAGAGAGAGTAAGAAACCCAGAGAC... | pathogenic | 304,297 |
Regarding the variant at chromosome 19 and position 38575899, affecting gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAG... | GGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAG... | benign | 304,340 |
The mutation in gene RYR1 (ryanodine receptor 1) at chromosome 19, position 38575899—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAG... | GGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAG... | benign | 304,341 |
Considering the variant on chromosome 19, location 38575905, involving gene RYR1 (ryanodine receptor 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCAC... | TGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCAC... | benign | 304,342 |
Is chromosome 19, position 38580106, gene RYR1 (ryanodine receptor 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Central_core_myopathy'] | GGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAG... | GGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAG... | pathogenic | 304,366 |
Clinical significance of chromosome 19, position 38580126, gene RYR1 (ryanodine receptor 1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTT... | GGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTT... | benign | 304,368 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 38583493, gene RYR1 (ryanodine receptor 1). What disease(s) is it linked to if pathogenic? | benign | GCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTG... | GCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTG... | benign | 304,382 |
Variant in RYR1 (ryanodine receptor 1), chromosome 19, position 38585055—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Central_core_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'Congenital_myopathy_with_fiber_type_disproportion', 'King_Denborough_syndrome', 'Malignant_hyperthermia,_susceptibility_to,_1', 'RYR1-related_disorder'] | CAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAA... | CAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAA... | pathogenic | 304,398 |
Is chromosome 19, position 38586156, gene RYR1 (ryanodine receptor 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['RYR1-related_disorder'] | CCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACC... | CCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACC... | pathogenic | 304,415 |
A genetic variant at chromosome 19, position 38915624, affecting gene SARS2 (seryl-tRNA synthetase 2, mitochondrial)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GGAGTTCAAGACCAGCCTGGTCAACATGGCGAAACCCTGCCTCTACTAAAAATACAAAAAATTAGCCGGACATGGTGGCACCTCCCTGTAATCCCAGCTATGCGGGAGGCTGAGGCAAAAGAATCTCTCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGACAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGTATCTCAGATGTAGGTACTGAGTGCTGGGGGGGTTTTACTGTGGTCACGGAAGACTTCTTGGAAGAGGTGACATTTGAGCTAAGGCCTGAGTGACAAGAT... | GGAGTTCAAGACCAGCCTGGTCAACATGGCGAAACCCTGCCTCTACTAAAAATACAAAAAATTAGCCGGACATGGTGGCACCTCCCTGTAATCCCAGCTATGCGGGAGGCTGAGGCAAAAGAATCTCTCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGACAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGTATCTCAGATGTAGGTACTGAGTGCTGGGGGGGTTTTACTGTGGTCACGGAAGACTTCTTGGAAGAGGTGACATTTGAGCTAAGGCCTGAGTGACAAGAT... | benign | 304,543 |
A genetic variant at chromosome 19, position 38918406, affecting gene SARS2 (seryl-tRNA synthetase 2, mitochondrial)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GGAGGAGCAAGAGGAACAAATGGAAACGATGGAAGAGAAGGCAGCCAAAAAGCAGGAAAAAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGACCTCATCTACTCCAAAAAAACAAACAAAAAAAAGGAGACGATAGTGCCAAAGGAGAGAGTTGTGAGGCCAGGGGTGGTTATGGAGAAGGTGGTACATGGAGGGGGAAGCACAAAAGAGGTTGATGGGAGGGGAAAAAGGCACGTGGCAGGGTCCACCGGCTCTTCACAGTGGCCATTCACACATTTGCACCTTCTAGGCACCCTCGGTTTTTTTTTTTTT... | GGAGGAGCAAGAGGAACAAATGGAAACGATGGAAGAGAAGGCAGCCAAAAAGCAGGAAAAAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGACCTCATCTACTCCAAAAAAACAAACAAAAAAAAGGAGACGATAGTGCCAAAGGAGAGAGTTGTGAGGCCAGGGGTGGTTATGGAGAAGGTGGTACATGGAGGGGGAAGCACAAAAGAGGTTGATGGGAGGGGAAAAAGGCACGTGGCAGGGTCCACCGGCTCTTCACAGTGGCCATTCACACATTTGCACCTTCTAGGCACCCTCGGTTTTTTTTTTTTT... | benign | 304,553 |
A genetic variant at chromosome 19, position 38922088, affecting gene SARS2 (seryl-tRNA synthetase 2, mitochondrial)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GCAGGCAGCTGGGAGAGGGGCGTGGGGAGCCAGGGGAGGGGCTCACTTCTGACGGATGATGTCGAGTTTCTCGCCAATTTCCAGGTGGCCCCGAGGTTGGAAGGAGAAAACTGGATGTGGGTGAAAAGCACCGGTGTAAGGCAGCGGGGAGAGAGGGATGGGGCCCAGATAGAAGCTTCCAGAGACAGCAGAGAGGAGGGACGGTGAGAGAAAATAAAGGAGGGGCAGGAGGAGAGAAGGGAGAAGAAGACACGGAAAGGGAGGGAAAGGGAAGAAAAGACAGACAGGAAGGGAGGGAGATAAAAACAGAGACAGGGAGA... | GCAGGCAGCTGGGAGAGGGGCGTGGGGAGCCAGGGGAGGGGCTCACTTCTGACGGATGATGTCGAGTTTCTCGCCAATTTCCAGGTGGCCCCGAGGTTGGAAGGAGAAAACTGGATGTGGGTGAAAAGCACCGGTGTAAGGCAGCGGGGAGAGAGGGATGGGGCCCAGATAGAAGCTTCCAGAGACAGCAGAGAGGAGGGACGGTGAGAGAAAATAAAGGAGGGGCAGGAGGAGAGAAGGGAGAAGAAGACACGGAAAGGGAGGGAAAGGGAAGAAAAGACAGACAGGAAGGGAGGGAGATAAAAACAGAGACAGGGAGA... | benign | 304,573 |
Is chromosome 19, position 38922116, gene SARS2 (seryl-tRNA synthetase 2, mitochondrial) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GCCAGGGGAGGGGCTCACTTCTGACGGATGATGTCGAGTTTCTCGCCAATTTCCAGGTGGCCCCGAGGTTGGAAGGAGAAAACTGGATGTGGGTGAAAAGCACCGGTGTAAGGCAGCGGGGAGAGAGGGATGGGGCCCAGATAGAAGCTTCCAGAGACAGCAGAGAGGAGGGACGGTGAGAGAAAATAAAGGAGGGGCAGGAGGAGAGAAGGGAGAAGAAGACACGGAAAGGGAGGGAAAGGGAAGAAAAGACAGACAGGAAGGGAGGGAGATAAAAACAGAGACAGGGAGAGGAAATGAGAGGAGGCAGAGAGGGAAAT... | GCCAGGGGAGGGGCTCACTTCTGACGGATGATGTCGAGTTTCTCGCCAATTTCCAGGTGGCCCCGAGGTTGGAAGGAGAAAACTGGATGTGGGTGAAAAGCACCGGTGTAAGGCAGCGGGGAGAGAGGGATGGGGCCCAGATAGAAGCTTCCAGAGACAGCAGAGAGGAGGGACGGTGAGAGAAAATAAAGGAGGGGCAGGAGGAGAGAAGGGAGAAGAAGACACGGAAAGGGAGGGAAAGGGAAGAAAAGACAGACAGGAAGGGAGGGAGATAAAAACAGAGACAGGGAGAGGAAATGAGAGGAGGCAGAGAGGGAAAT... | benign | 304,574 |
Gene DLL3 (delta like canonical Notch ligand 3) variant at chromosome 19, position 39500628—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Spondylocostal_dysostosis_1,_autosomal_recessive'] | CACACAACTCCAGGCGTATGCTGAGCCGCACAGTCCCACGTGGACTCACAATGACAAAGTCATGTGCACCCTCCGGTAGCTCTGGTTCATACCACACACACAAAATCTTAAAATCATGTACAACCTCACACACAGGCTTAGCCCCCTAACCCCACCCCACCCTAGCCACACAAAAAGTCGCGGGATCACCCACGCATGACCTCGCTCGTGCCCACGACCACAGACGGAATCTCGCTGTTGCTCCTGCACGCTCCCCCTCCCCTGTGACCGCCCCCCCCGCCCCGCCCTTGGTCCCTTGGGGCCGGGTAGCTGCCTGAAGG... | CACACAACTCCAGGCGTATGCTGAGCCGCACAGTCCCACGTGGACTCACAATGACAAAGTCATGTGCACCCTCCGGTAGCTCTGGTTCATACCACACACACAAAATCTTAAAATCATGTACAACCTCACACACAGGCTTAGCCCCCTAACCCCACCCCACCCTAGCCACACAAAAAGTCGCGGGATCACCCACGCATGACCTCGCTCGTGCCCACGACCACAGACGGAATCTCGCTGTTGCTCCTGCACGCTCCCCCTCCCCTGTGACCGCCCCCCCCGCCCCGCCCTTGGTCCCTTGGGGCCGGGTAGCTGCCTGAAGG... | pathogenic | 304,689 |
Is the genetic change at chromosome 19, position 39500656, within gene DLL3 (delta like canonical Notch ligand 3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Spondylocostal_dysostosis_1,_autosomal_recessive'] | CACAGTCCCACGTGGACTCACAATGACAAAGTCATGTGCACCCTCCGGTAGCTCTGGTTCATACCACACACACAAAATCTTAAAATCATGTACAACCTCACACACAGGCTTAGCCCCCTAACCCCACCCCACCCTAGCCACACAAAAAGTCGCGGGATCACCCACGCATGACCTCGCTCGTGCCCACGACCACAGACGGAATCTCGCTGTTGCTCCTGCACGCTCCCCCTCCCCTGTGACCGCCCCCCCCGCCCCGCCCTTGGTCCCTTGGGGCCGGGTAGCTGCCTGAAGGGGCGGGGCCATTCTCTCAGATATAAGGC... | CACAGTCCCACGTGGACTCACAATGACAAAGTCATGTGCACCCTCCGGTAGCTCTGGTTCATACCACACACACAAAATCTTAAAATCATGTACAACCTCACACACAGGCTTAGCCCCCTAACCCCACCCCACCCTAGCCACACAAAAAGTCGCGGGATCACCCACGCATGACCTCGCTCGTGCCCACGACCACAGACGGAATCTCGCTGTTGCTCCTGCACGCTCCCCCTCCCCTGTGACCGCCCCCCCCGCCCCGCCCTTGGTCCCTTGGGGCCGGGTAGCTGCCTGAAGGGGCGGGGCCATTCTCTCAGATATAAGGC... | pathogenic | 304,692 |
Variant chromosome 19, position 39502930, gene DLL3: benign or pathogenic? Disease(s)? | pathogenic; ['DLL3-related_disorder'] | AAGCTCTCTTACTATCAAGGCTCCAGAGCAGAGTGTAGCATTTCACAGCCCTACCTTATCATCTGATGTTGAGAGCTCAGGGTGCGATATGAATTACTTCTGGTTCTTTTATGTGAAGTTTTTTTTTTTTCTTTCCAAGACAGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTACTTTTTTTTGTATTTTTAGTAGAGACAGGATTTCAC... | AAGCTCTCTTACTATCAAGGCTCCAGAGCAGAGTGTAGCATTTCACAGCCCTACCTTATCATCTGATGTTGAGAGCTCAGGGTGCGATATGAATTACTTCTGGTTCTTTTATGTGAAGTTTTTTTTTTTTCTTTCCAAGACAGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTACTTTTTTTTGTATTTTTAGTAGAGACAGGATTTCAC... | pathogenic | 304,699 |
Does the chromosome 19 mutation at position 39502998 within gene DLL3 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Leukodystrophy_and_acquired_microcephaly_with_or_without_dystonia%3B', 'Spondylocostal_dysostosis_1,_autosomal_recessive'] | TTGAGAGCTCAGGGTGCGATATGAATTACTTCTGGTTCTTTTATGTGAAGTTTTTTTTTTTTCTTTCCAAGACAGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTACTTTTTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAGAGTGTTG... | TTGAGAGCTCAGGGTGCGATATGAATTACTTCTGGTTCTTTTATGTGAAGTTTTTTTTTTTTCTTTCCAAGACAGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTACTTTTTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAGAGTGTTG... | pathogenic | 304,703 |
A genetic variant on chromosome 19, position 39503019, affects the gene DLL3. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Spondylocostal_dysostosis_1,_autosomal_recessive'] | TGAATTACTTCTGGTTCTTTTATGTGAAGTTTTTTTTTTTTCTTTCCAAGACAGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTACTTTTTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAGAGTGTTGAGATTACAGGCATGAGCCACC... | TGAATTACTTCTGGTTCTTTTATGTGAAGTTTTTTTTTTTTCTTTCCAAGACAGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTACTTTTTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAGAGTGTTGAGATTACAGGCATGAGCCACC... | pathogenic | 304,704 |
Variant chromosome 19, position 39505302, gene DLL3 (delta like canonical Notch ligand 3): benign or pathogenic? Disease(s)? | pathogenic; ['Spondylocostal_dysostosis_1,_autosomal_recessive'] | CCGCCCACCATCCAGCTGCCACCTTCGGAGAAACTGAGGACCCTGGACCTCTCTCCAGCCCTGCCTTGCTACTCGAGCCCCCTTCCCTCTCCCAGCCCTCTTGTTGCCCCAAATCGGAAGCCCACGTCCATTTTCTATGCTGGCACCCTCCAGTTCCTTCCCTAACCCACATTCACACCCTGTCCTGATGCTAGGACTCCAAAGCTCTTCTAATTCTGCGGCCCTCCCGACTCCCACTCGGAAGCTTTGGAATCTCCTCCCAGTCCACTCTGGCCAAGGGGCCCTCCATCCTCCCTCCCTAGGGTTGCAGGCCAGAACCC... | CCGCCCACCATCCAGCTGCCACCTTCGGAGAAACTGAGGACCCTGGACCTCTCTCCAGCCCTGCCTTGCTACTCGAGCCCCCTTCCCTCTCCCAGCCCTCTTGTTGCCCCAAATCGGAAGCCCACGTCCATTTTCTATGCTGGCACCCTCCAGTTCCTTCCCTAACCCACATTCACACCCTGTCCTGATGCTAGGACTCCAAAGCTCTTCTAATTCTGCGGCCCTCCCGACTCCCACTCGGAAGCTTTGGAATCTCCTCCCAGTCCACTCTGGCCAAGGGGCCCTCCATCCTCCCTCCCTAGGGTTGCAGGCCAGAACCC... | pathogenic | 304,715 |
The mutation impacting PLD3 on chromosome 19 at position 40394272: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGGAGACCTCTGGAGAAGGGGTGCAGAAGCTGCTGGGTCCCCAAGGGGATGCAGGAGAGAGTTTGGGAGTTGTCAGCACAGAGAGGAGGCGTGGAAGCCATGGGGGAGGGTGATGCACCCTAGGGAGGGTGTGGGGGTGGACAAGGGCCCGGGAGGAACCTCCGGTGCCCAAGGAGCACGGGGAGAGAGAGGTGTGGGGAAGAGGAGCAAGTGTCAGGAAGATCGAAGGGGCCTTGAAGAGTCAGGACAAGAGAGACAAAGGAAACCCTCAGGCGTGGCCACGGGGAGGTCACTGCTGACACAGACAAGGTAGGAGGAAA... | AGGAGACCTCTGGAGAAGGGGTGCAGAAGCTGCTGGGTCCCCAAGGGGATGCAGGAGAGAGTTTGGGAGTTGTCAGCACAGAGAGGAGGCGTGGAAGCCATGGGGGAGGGTGATGCACCCTAGGGAGGGTGTGGGGGTGGACAAGGGCCCGGGAGGAACCTCCGGTGCCCAAGGAGCACGGGGAGAGAGAGGTGTGGGGAAGAGGAGCAAGTGTCAGGAAGATCGAAGGGGCCTTGAAGAGTCAGGACAAGAGAGACAAAGGAAACCCTCAGGCGTGGCCACGGGGAGGTCACTGCTGACACAGACAAGGTAGGAGGAAA... | benign | 304,785 |
Chromosome 19, position 40394272, gene PRX (periaxin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | AGGAGACCTCTGGAGAAGGGGTGCAGAAGCTGCTGGGTCCCCAAGGGGATGCAGGAGAGAGTTTGGGAGTTGTCAGCACAGAGAGGAGGCGTGGAAGCCATGGGGGAGGGTGATGCACCCTAGGGAGGGTGTGGGGGTGGACAAGGGCCCGGGAGGAACCTCCGGTGCCCAAGGAGCACGGGGAGAGAGAGGTGTGGGGAAGAGGAGCAAGTGTCAGGAAGATCGAAGGGGCCTTGAAGAGTCAGGACAAGAGAGACAAAGGAAACCCTCAGGCGTGGCCACGGGGAGGTCACTGCTGACACAGACAAGGTAGGAGGAAA... | AGGAGACCTCTGGAGAAGGGGTGCAGAAGCTGCTGGGTCCCCAAGGGGATGCAGGAGAGAGTTTGGGAGTTGTCAGCACAGAGAGGAGGCGTGGAAGCCATGGGGGAGGGTGATGCACCCTAGGGAGGGTGTGGGGGTGGACAAGGGCCCGGGAGGAACCTCCGGTGCCCAAGGAGCACGGGGAGAGAGAGGTGTGGGGAAGAGGAGCAAGTGTCAGGAAGATCGAAGGGGCCTTGAAGAGTCAGGACAAGAGAGACAAAGGAAACCCTCAGGCGTGGCCACGGGGAGGTCACTGCTGACACAGACAAGGTAGGAGGAAA... | benign | 304,786 |
Evaluate this variant at chromosome 19, position 40395153, gene PLD3: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_type_4', 'Spinocerebellar_ataxia_46'] | GTGGGGAGCAACCAGCCTGGTAGGAGTGGGTCCCCCAGGACAGGCAGGCTTCCTGGCAGAGGGGTCCCGAAGCTGTGCTCTGCCAGGGAACATCCCAGAGTCCTCTTTAACAACCCCTGGGAATTCTCAAGGGCTAGGGACGTCTCCCTTCCCACCACGGCCTGTCCCAAGGCCATCCTGAGTCTTTGTTTTTGTTTTTGTTGAAACAGTCTGGCTCTGTTGCCTAGGCTGGAGTGCAGGGGCACCATCAAGGCTCACTGCAGCCTCGACCTCCCGGGCTCAAGTGATCCTCCCACCTCAGCCCCCCGAGTAGCTGGGAT... | GTGGGGAGCAACCAGCCTGGTAGGAGTGGGTCCCCCAGGACAGGCAGGCTTCCTGGCAGAGGGGTCCCGAAGCTGTGCTCTGCCAGGGAACATCCCAGAGTCCTCTTTAACAACCCCTGGGAATTCTCAAGGGCTAGGGACGTCTCCCTTCCCACCACGGCCTGTCCCAAGGCCATCCTGAGTCTTTGTTTTTGTTTTTGTTGAAACAGTCTGGCTCTGTTGCCTAGGCTGGAGTGCAGGGGCACCATCAAGGCTCACTGCAGCCTCGACCTCCCGGGCTCAAGTGATCCTCCCACCTCAGCCCCCCGAGTAGCTGGGAT... | pathogenic | 304,809 |
The genetic variant at chromosome 19, position 40395253, affecting gene PRX (periaxin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4F'] | TCCTCTTTAACAACCCCTGGGAATTCTCAAGGGCTAGGGACGTCTCCCTTCCCACCACGGCCTGTCCCAAGGCCATCCTGAGTCTTTGTTTTTGTTTTTGTTGAAACAGTCTGGCTCTGTTGCCTAGGCTGGAGTGCAGGGGCACCATCAAGGCTCACTGCAGCCTCGACCTCCCGGGCTCAAGTGATCCTCCCACCTCAGCCCCCCGAGTAGCTGGGATTACAGGCACGGGCCACCATGCCTGGATATTTTTTGTATTTTTTGTAGGGATGAGGTTTCCCTATGTTTCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGC... | TCCTCTTTAACAACCCCTGGGAATTCTCAAGGGCTAGGGACGTCTCCCTTCCCACCACGGCCTGTCCCAAGGCCATCCTGAGTCTTTGTTTTTGTTTTTGTTGAAACAGTCTGGCTCTGTTGCCTAGGCTGGAGTGCAGGGGCACCATCAAGGCTCACTGCAGCCTCGACCTCCCGGGCTCAAGTGATCCTCCCACCTCAGCCCCCCGAGTAGCTGGGATTACAGGCACGGGCCACCATGCCTGGATATTTTTTGTATTTTTTGTAGGGATGAGGTTTCCCTATGTTTCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGC... | pathogenic | 304,810 |
Gene PRX (periaxin) variant at chromosome 19, position 40395337—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4'] | TTTGTTTTTGTTTTTGTTGAAACAGTCTGGCTCTGTTGCCTAGGCTGGAGTGCAGGGGCACCATCAAGGCTCACTGCAGCCTCGACCTCCCGGGCTCAAGTGATCCTCCCACCTCAGCCCCCCGAGTAGCTGGGATTACAGGCACGGGCCACCATGCCTGGATATTTTTTGTATTTTTTGTAGGGATGAGGTTTCCCTATGTTTCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAG... | TTTGTTTTTGTTTTTGTTGAAACAGTCTGGCTCTGTTGCCTAGGCTGGAGTGCAGGGGCACCATCAAGGCTCACTGCAGCCTCGACCTCCCGGGCTCAAGTGATCCTCCCACCTCAGCCCCCCGAGTAGCTGGGATTACAGGCACGGGCCACCATGCCTGGATATTTTTTGTATTTTTTGTAGGGATGAGGTTTCCCTATGTTTCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAG... | pathogenic | 304,811 |
A genetic alteration at chromosome 19, position 40395498, in gene PRX (periaxin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'Inborn_genetic_diseases'] | ATATTTTTTGTATTTTTTGTAGGGATGAGGTTTCCCTATGTTTCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTA... | ATATTTTTTGTATTTTTTGTAGGGATGAGGTTTCCCTATGTTTCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTA... | pathogenic | 304,817 |
A genetic alteration at chromosome 19, position 40395564, in gene PRX (periaxin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_Dejerine-Sottas_syndrome', 'Charcot-Marie-Tooth_disease_type_4'] | GGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCA... | GGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCA... | pathogenic | 304,818 |
Evaluate if the mutation on chromosome 19 at position 40395576 in PRX (periaxin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4'] | CCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCAGGCCTCCCTGCC... | CCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCAGGCCTCCCTGCC... | pathogenic | 304,820 |
Determine if the mutation at chromosome 19, position 40396062 in gene PRX (periaxin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_Dejerine-Sottas_syndrome', 'Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4F'] | CCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTT... | CCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTT... | pathogenic | 304,837 |
Is the genetic variant on chromosome 19, position 40397724, gene PRX (periaxin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4F'] | CCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGG... | CCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGG... | pathogenic | 304,895 |
The mutation in gene PRX (periaxin) at chromosome 19, position 40403712—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_type_4'] | CATGGTCCCACCTTGGGGCATTTTTGCTGTCTGTTCCCTCTTCCAGATGGCCTCATAGCTTGTTCCCTTACCTCCTTTAGCCTTTTCACCCTTTCCAGCCCACCCCTTTTTTTTTTTTTTTTTAGGCGGAGTTTTGCTCTTTCGCCCAGGCTGGAGTGAAGTGGCGCGAACTCGGCTTACTGCAACCTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTATAGGCGCCTACCACCACACCCGGCTAATTTTTGAATTTTTAGTAGAGACAGAGTTTCGCCATATTGGCCAGGCTGGCCTCGAACTCCTGA... | CATGGTCCCACCTTGGGGCATTTTTGCTGTCTGTTCCCTCTTCCAGATGGCCTCATAGCTTGTTCCCTTACCTCCTTTAGCCTTTTCACCCTTTCCAGCCCACCCCTTTTTTTTTTTTTTTTTAGGCGGAGTTTTGCTCTTTCGCCCAGGCTGGAGTGAAGTGGCGCGAACTCGGCTTACTGCAACCTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTATAGGCGCCTACCACCACACCCGGCTAATTTTTGAATTTTTAGTAGAGACAGAGTTTCGCCATATTGGCCAGGCTGGCCTCGAACTCCTGA... | pathogenic | 304,913 |
Is the chromosome 19, position 40504139 variant in SPTBN4 (spectrin beta, non-erythrocytic 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TGGGATGAGGCTGACCCCCCTTCCTCTGCTGTGTCAGGTCTTGGACCAGGTATTGGAGGTGGGGAAGATCATAGAACGCTACGAGGAGCTGGCGGCTGAGCTGCTGGCCTGGATCCACCGCACCGTGGGCCTCATCAGCAATCAGAAATTTGCCAACTCCTTAAGTGGGGTGCAGCAGCAACTCCAGGCTTTCACGGCCTATTGCACGCTGGAGAAGCCTGTCAAGTGAGGCCCAGCTCTGGAGGGAGGGTGGGCAGGGGTGGCATGACGGCAGGGCTCCTGAGCTCATGCCCCTTCAGGTTCCAGGAGAAGGGGAACCT... | TGGGATGAGGCTGACCCCCCTTCCTCTGCTGTGTCAGGTCTTGGACCAGGTATTGGAGGTGGGGAAGATCATAGAACGCTACGAGGAGCTGGCGGCTGAGCTGCTGGCCTGGATCCACCGCACCGTGGGCCTCATCAGCAATCAGAAATTTGCCAACTCCTTAAGTGGGGTGCAGCAGCAACTCCAGGCTTTCACGGCCTATTGCACGCTGGAGAAGCCTGTCAAGTGAGGCCCAGCTCTGGAGGGAGGGTGGGCAGGGGTGGCATGACGGCAGGGCTCCTGAGCTCATGCCCCTTCAGGTTCCAGGAGAAGGGGAACCT... | benign | 304,939 |
Located at chromosome 19 position 40512814, the variant affecting gene SPTBN4 (spectrin beta, non-erythrocytic 4)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | AATCCCAGTACTTTGGGAGGCCAAGGTGGGTGAATTTCTTCAGCCCAGATATTGGAGACCAGCCAGCGAGACTCTATTTCTACAAGAAACTTAGAAAAAAAATTAGCCAGGCATGGTGTTGTGGGCCCATAGTCCCAGCTACTCAGGAAGCTGAGGCGGGAGGATTACTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGATAGAGTGATACCCTATCTCTAAAATAAATAAATAAATAAATAAACACACTTACCTCATGACTCACAGTTCACATGCATACATGGGCAC... | AATCCCAGTACTTTGGGAGGCCAAGGTGGGTGAATTTCTTCAGCCCAGATATTGGAGACCAGCCAGCGAGACTCTATTTCTACAAGAAACTTAGAAAAAAAATTAGCCAGGCATGGTGTTGTGGGCCCATAGTCCCAGCTACTCAGGAAGCTGAGGCGGGAGGATTACTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGATAGAGTGATACCCTATCTCTAAAATAAATAAATAAATAAATAAACACACTTACCTCATGACTCACAGTTCACATGCATACATGGGCAC... | benign | 304,943 |
Determine whether the variant at chromosome 19, position 40609521, in gene LTBP4 (latent transforming growth factor beta binding protein 4) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GCCGCGTAGGCAAGGCCTGGGGCCGGGGCTGCCAGCTCTGCCCACCCTTCGGCTCAGGTGAGCCCCTGCGGCAGTGCCTAGCCCTACGCGCAACACATGTGGCGCTCATTCTACGCCCCACCCTCCAACCCTGAGTTCACTGCCCCAACCTGACTGGCTGGGCTCCAGCCTTGGCCACGCAGCAGCCTCTGAGACCCGCAGGCCTCAGACTGGACAGCATCCATGGCTCCACCTCCATCTGTAGCCACAGCCACCCCTCCATTCGTAGCCACAGCTACCCCGGAGCTCCCAAGTTAGTTTTTGTCTCCTGAGCGTCAACG... | GCCGCGTAGGCAAGGCCTGGGGCCGGGGCTGCCAGCTCTGCCCACCCTTCGGCTCAGGTGAGCCCCTGCGGCAGTGCCTAGCCCTACGCGCAACACATGTGGCGCTCATTCTACGCCCCACCCTCCAACCCTGAGTTCACTGCCCCAACCTGACTGGCTGGGCTCCAGCCTTGGCCACGCAGCAGCCTCTGAGACCCGCAGGCCTCAGACTGGACAGCATCCATGGCTCCACCTCCATCTGTAGCCACAGCCACCCCTCCATTCGTAGCCACAGCTACCCCGGAGCTCCCAAGTTAGTTTTTGTCTCCTGAGCGTCAACG... | benign | 305,019 |
For chromosome 19, position 40692330, gene COQ8B (coenzyme Q8B): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Nephrotic_syndrome,_type_9'] | AAGACCCCGGTCTCCTGGGCTTTGGCTTGTTGGGCCTGTTCCTGGACCCCCACCCGGGACCACCCTCTCCAGCCTTGGCACCCTCTCTCCATCCGGGCGCCGCGGCCGCCTCCCACCCTCCGCCACATCAGCAGCGGCGCCGCCCCCGACCCGAGCCCCCCTCTCCCGCCCTTCTCACGCTGGCCGCCGCGCTGCGGGACATCCAGGGCCCGGGCGCCCCCGCCTCCCGCGGCCCTGGCTGGGCCTGGCTCCCCGACTGCTGCTGCTGCGGTGGTGGCGGCGGCAGCTCGGTCTGACGCCGGCCAGGGCCCGGGGCCGGG... | AAGACCCCGGTCTCCTGGGCTTTGGCTTGTTGGGCCTGTTCCTGGACCCCCACCCGGGACCACCCTCTCCAGCCTTGGCACCCTCTCTCCATCCGGGCGCCGCGGCCGCCTCCCACCCTCCGCCACATCAGCAGCGGCGCCGCCCCCGACCCGAGCCCCCCTCTCCCGCCCTTCTCACGCTGGCCGCCGCGCTGCGGGACATCCAGGGCCCGGGCGCCCCCGCCTCCCGCGGCCCTGGCTGGGCCTGGCTCCCCGACTGCTGCTGCTGCGGTGGTGGCGGCGGCAGCTCGGTCTGACGCCGGCCAGGGCCCGGGGCCGGG... | pathogenic | 305,142 |
Variant chromosome 19, position 40700302, gene COQ8B (coenzyme Q8B): benign or pathogenic? Disease(s)? | benign | TCCCTCCCATCTGTGACATACTGACATCATCTATTCCATAAAAAAAAAAAAAGTGCTGGTGGATCATGAGGTCAGGAGTTCAAGACTAGCCTGGCCAAAATGGTGAAACCTCATCTCTACTAAAGATACAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATTTCTCGAACCCCAGAGGCAGAGGCTTCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAGTCCTGTTGGAAACCAATAAA... | TCCCTCCCATCTGTGACATACTGACATCATCTATTCCATAAAAAAAAAAAAAGTGCTGGTGGATCATGAGGTCAGGAGTTCAAGACTAGCCTGGCCAAAATGGTGAAACCTCATCTCTACTAAAGATACAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATTTCTCGAACCCCAGAGGCAGAGGCTTCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAGTCCTGTTGGAAACCAATAAA... | benign | 305,153 |
Chromosome 19, position 40703786, gene COQ8B (coenzyme Q8B): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Nephrotic_syndrome,_type_9'] | GGATTTCATCCCGCATCTGAGTCTAGGGTGTGTGCCTCTAACCACTGCCTTCTACTGAGCTTTCACTCTCTGTCTACAGAGCTTGGCACGTTTTAGGCTGTCAATAAATGTGTGAGCCACACTGTGGAGGACCCCACTGAGGTGCCATTAATTGCTACACATCAGGATGCTTCCAAGATATAACCACATTGTTCCACGTAGCCATAGTTCATGCATTTTCACTGCTACGTAATATTCCACAGATGAATATACCGTTGCTTATTTGTCCACCCTGCTGGATAAACTTGATGGATATGGGTTGTTTCCAGTTTGGGGCTGTT... | GGATTTCATCCCGCATCTGAGTCTAGGGTGTGTGCCTCTAACCACTGCCTTCTACTGAGCTTTCACTCTCTGTCTACAGAGCTTGGCACGTTTTAGGCTGTCAATAAATGTGTGAGCCACACTGTGGAGGACCCCACTGAGGTGCCATTAATTGCTACACATCAGGATGCTTCCAAGATATAACCACATTGTTCCACGTAGCCATAGTTCATGCATTTTCACTGCTACGTAATATTCCACAGATGAATATACCGTTGCTTATTTGTCCACCCTGCTGGATAAACTTGATGGATATGGGTTGTTTCCAGTTTGGGGCTGTT... | pathogenic | 305,167 |
Variant chromosome 19, position 41342037, gene TGFB1 (transforming growth factor beta 1): benign or pathogenic? Disease(s)? | benign | GATGATCACTCTAAATTTACAACATTCTAACTCTCCATTTCAACTTTCTAGGAATCCAACATTTCAGCTTTCTTAGATTGCAGTATTAGCATTCCAGCATCTTATGATTCTAACATTCTGACAGCATCTTCAACTCTCTAGGATTCCCCCTTTCCAACCTTTGAGGATCTTGGCATTCCTGAATTCCAGTATGCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAG... | GATGATCACTCTAAATTTACAACATTCTAACTCTCCATTTCAACTTTCTAGGAATCCAACATTTCAGCTTTCTTAGATTGCAGTATTAGCATTCCAGCATCTTATGATTCTAACATTCTGACAGCATCTTCAACTCTCTAGGATTCCCCCTTTCCAACCTTTGAGGATCTTGGCATTCCTGAATTCCAGTATGCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAG... | benign | 305,267 |
Mutation found at chromosome 19 position 41363582, gene B9D2 (B9 domain containing 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TCCCAGCACTTTGGAAGGCCTACGCAGGCGGATCACTTAAGGCCAGGAGTTCGAGACCAGCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTAGCGGGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGACATAGGAGAATCGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCTTGGCTACAGAGTGAGACTCTGTCTCAAAAAAAAAAGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCTACGCAGG... | TCCCAGCACTTTGGAAGGCCTACGCAGGCGGATCACTTAAGGCCAGGAGTTCGAGACCAGCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTAGCGGGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGACATAGGAGAATCGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCTTGGCTACAGAGTGAGACTCTGTCTCAAAAAAAAAAGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCTACGCAGG... | benign | 305,296 |
Is the genetic mutation found on chromosome 19 at position 41397840, within the gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Maple_syrup_urine_disease'] | ACTCACTTCGTTCAGGCAATAGCCTGAAATACCATCTATATAGCCAGAGAGTTCCAAATTGCCTATGTCCAGCTTGGGTCTCTCTTCTGATTTCCAGACTTGTACAGATCTGGGCAGAAACCTTAGTTATGCCTGAATCTTTTTCCTCGCACTCAAACCAAACTATACGTAAGTTTTGTCCGTATTACTTTCAAACTACATCCAGAATCTCATCACCTCCACTACTCCTGCTCTGGCTGGAGCCACCATCACCTCCCTGTTTTCCCCCATACTCCCCACAATCAACACAGCAGCCAAATTTTGTTAAAATGTATTGGGGC... | ACTCACTTCGTTCAGGCAATAGCCTGAAATACCATCTATATAGCCAGAGAGTTCCAAATTGCCTATGTCCAGCTTGGGTCTCTCTTCTGATTTCCAGACTTGTACAGATCTGGGCAGAAACCTTAGTTATGCCTGAATCTTTTTCCTCGCACTCAAACCAAACTATACGTAAGTTTTGTCCGTATTACTTTCAAACTACATCCAGAATCTCATCACCTCCACTACTCCTGCTCTGGCTGGAGCCACCATCACCTCCCTGTTTTCCCCCATACTCCCCACAATCAACACAGCAGCCAAATTTTGTTAAAATGTATTGGGGC... | pathogenic | 305,306 |
Gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) variant at chromosome 19, position 41410638—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Inborn_genetic_diseases', 'Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | GTCCTTGCAGGACTCCTCCAGCCCCTCTGAGCTTTTTTTTTTGTTTGAGACAGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCT... | GTCCTTGCAGGACTCCTCCAGCCCCTCTGAGCTTTTTTTTTTGTTTGAGACAGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCT... | pathogenic | 305,314 |
Does the variant on chromosome 19 at location 41410638 affecting gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Maple_syrup_urine_disease'] | GTCCTTGCAGGACTCCTCCAGCCCCTCTGAGCTTTTTTTTTTGTTTGAGACAGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCT... | GTCCTTGCAGGACTCCTCCAGCCCCTCTGAGCTTTTTTTTTTGTTTGAGACAGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCT... | pathogenic | 305,315 |
The mutation in gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) at chromosome 19, position 41410638—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | GTCCTTGCAGGACTCCTCCAGCCCCTCTGAGCTTTTTTTTTTGTTTGAGACAGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCT... | GTCCTTGCAGGACTCCTCCAGCCCCTCTGAGCTTTTTTTTTTGTTTGAGACAGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCT... | pathogenic | 305,316 |
Is the genetic change at chromosome 19, position 41410670, within gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | TTTTTTTTTTGTTTGAGACAGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCTGAGCTCCTTCTGTCTTCCATGAAGGACACACT... | TTTTTTTTTTGTTTGAGACAGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCTGAGCTCCTTCTGTCTTCCATGAAGGACACACT... | pathogenic | 305,323 |
Evaluate if the mutation on chromosome 19 at position 41410689 in BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | AGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCTGAGCTCCTTCTGTCTTCCATGAAGGACACACTATTCCTTGCCTTTTGTCTT... | AGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCTGAGCTCCTTCTGTCTTCCATGAAGGACACACTATTCCTTGCCTTTTGTCTT... | pathogenic | 305,324 |
Evaluate the clinical significance of the mutation at chromosome 19, position 41414074 in gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | CCGGGGTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTT... | CCGGGGTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTT... | pathogenic | 305,340 |
Evaluate if the mutation on chromosome 19 at position 41414079 in BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | GTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCC... | GTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCC... | pathogenic | 305,341 |
A genetic alteration at chromosome 19, position 41419156, in gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | ATCAAGTGATCCTCCCACCTCAGCCCCCTGAATAGCTGGGACCACAGGTGCACGCCACCACACCTGGCTAATTTTTTTTTTGATTTTTGGTAGAGACGGGGTTTCGCTGTGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCAGTCCACCTGCCTCACCCTTCCAAAGTGCTGGGATTACAGGCACGAGCCACTGAGCCTGACAAGTTTGTACTTTTAGCACGTTCCCCTGCCCCTGCCCAGTCCTTCTCACATGGGTGGACCTAGTACCACATTCTGAGAAAGCCTGATTCCAAGGTCCTGTATCAGTCCCTTGG... | ATCAAGTGATCCTCCCACCTCAGCCCCCTGAATAGCTGGGACCACAGGTGCACGCCACCACACCTGGCTAATTTTTTTTTTGATTTTTGGTAGAGACGGGGTTTCGCTGTGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCAGTCCACCTGCCTCACCCTTCCAAAGTGCTGGGATTACAGGCACGAGCCACTGAGCCTGACAAGTTTGTACTTTTAGCACGTTCCCCTGCCCCTGCCCAGTCCTTCTCACATGGGTGGACCTAGTACCACATTCTGAGAAAGCCTGATTCCAAGGTCCTGTATCAGTCCCTTGG... | pathogenic | 305,348 |
Clinically, how would you classify the variant at chromosome 19, position 41422167, gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Maple_syrup_urine_disease'] | TCTGTTGCTGTCCCCACCCCATTCAGGGGCCTGAAGCCTGTGTGACCACACTCTGGATTTCCCAACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAA... | TCTGTTGCTGTCCCCACCCCATTCAGGGGCCTGAAGCCTGTGTGACCACACTCTGGATTTCCCAACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAA... | pathogenic | 305,358 |
Clinical significance of chromosome 19, position 41422175, gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Maple_syrup_urine_disease'] | TGTCCCCACCCCATTCAGGGGCCTGAAGCCTGTGTGACCACACTCTGGATTTCCCAACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAA... | TGTCCCCACCCCATTCAGGGGCCTGAAGCCTGTGTGACCACACTCTGGATTTCCCAACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAA... | pathogenic | 305,359 |
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