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 |
|---|---|---|---|---|---|
Does the chromosome 3 mutation at position 37050647 within gene MLH1 (mutL homolog 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAGGTGAATTGGGACGAA... | TAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAGGTGAATTGGGACGAA... | pathogenic | 65,429 |
Evaluate the clinical significance of the mutation at chromosome 3, position 37050649 in gene MLH1 (mutL homolog 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Lynch_syndrome', 'Lynch_syndrome_1'] | GCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAGGTGAATTGGGACGAAGA... | GCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAGGTGAATTGGGACGAAGA... | pathogenic | 65,430 |
Benign or pathogenic: chromosome 3, position 37050659, gene MLH1 (mutL homolog 1) variant? Disease(s) if pathogenic? | benign | TCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAGGTGAATTGGGACGAAGAAAAGGAATGT... | TCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAGGTGAATTGGGACGAAGAAAAGGAATGT... | benign | 65,431 |
Located at chromosome 3 position 37050682, the variant affecting gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | CATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAGGTGAATTGGGACGAAGAAAAGGAATGTTTTGAAAGCCTCAGTAAAGAATG... | CATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAGGTGAATTGGGACGAAGAAAAGGAATGTTTTGAAAGCCTCAGTAAAGAATG... | benign | 65,432 |
Variant in MLH1 (mutL homolog 1), chromosome 3, position 37050810—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAGGTGAATTGGGACGAAGAAAAGGAATGTTTTGAAAGCCTCAGTAAAGAATGCGCTATGTTCTATTCCATCCGGAAGCAGTACATATCTGAGGAGTCGACCCTCTCAGGCCAGCAGGTACAGTGGTGATGCACACTGGCACCCCAGGACTAGGACAGGACCTCATACAATCTTTAGGAGA... | AATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAGGTGAATTGGGACGAAGAAAAGGAATGTTTTGAAAGCCTCAGTAAAGAATGCGCTATGTTCTATTCCATCCGGAAGCAGTACATATCTGAGGAGTCGACCCTCTCAGGCCAGCAGGTACAGTGGTGATGCACACTGGCACCCCAGGACTAGGACAGGACCTCATACAATCTTTAGGAGA... | benign | 65,434 |
Clinically, how would you classify the variant at chromosome 3, position 38138852, gene MYD88 (MYD88 innate immune signal transduction adaptor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Pyogenic_bacterial_infections_due_to_MyD88_deficiency'] | ACCGGACCCCAGCCCGCGCCGGCGTCTTCCCACACTCGGCGCCCAGACCCTCGGGCCTCACCTTGAAGCCGCCGCGGCCCGCCCGGCAGATGGCCGTGCGCCGCCCGTGCACCACCACCACGTCCGCGGCCGAGGCCTGCGGGGCACCGCTCAGGCAAGGCGCGGCCTGCGGCATCCAGCCGGAATCGGCCGGACCCCTCAGGTGGCCCAGCACTACCTGCAGCCTCTGCATTGCGCAGGTCAACCCTGCAGACCAGCCACCAGTCCGGGAACTGACCGCGGAGTTAACAGACAGCCGTCCGCACACGCGCAGAACCACA... | ACCGGACCCCAGCCCGCGCCGGCGTCTTCCCACACTCGGCGCCCAGACCCTCGGGCCTCACCTTGAAGCCGCCGCGGCCCGCCCGGCAGATGGCCGTGCGCCGCCCGTGCACCACCACCACGTCCGCGGCCGAGGCCTGCGGGGCACCGCTCAGGCAAGGCGCGGCCTGCGGCATCCAGCCGGAATCGGCCGGACCCCTCAGGTGGCCCAGCACTACCTGCAGCCTCTGCATTGCGCAGGTCAACCCTGCAGACCAGCCACCAGTCCGGGAACTGACCGCGGAGTTAACAGACAGCCGTCCGCACACGCGCAGAACCACA... | pathogenic | 65,492 |
The chromosome 3, position 38548867 genetic variant in gene SCN5A (sodium voltage-gated channel alpha subunit 5): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CCAGCACTTTGGGAGGCCAAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCATCTCTACTAAAAACACAAAAATTAGCTGGTGGTGGCTGGTGCCTGTAGTTCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCACTTGAACCGGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCGACAGAGTGGGACTCCATCTCAAAAAACAAAAAGCAAACAAACAAACAAAAAAACTACAATGAGATACCATCTCAGACAGATTAGGATGACT... | CCAGCACTTTGGGAGGCCAAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCATCTCTACTAAAAACACAAAAATTAGCTGGTGGTGGCTGGTGCCTGTAGTTCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCACTTGAACCGGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCGACAGAGTGGGACTCCATCTCAAAAAACAAAAAGCAAACAAACAAACAAAAAAACTACAATGAGATACCATCTCAGACAGATTAGGATGACT... | benign | 65,546 |
Evaluate the clinical significance of the mutation at chromosome 3, position 38550838 in gene SCN5A (sodium voltage-gated channel alpha subunit 5): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Brugada_syndrome'] | GAGCTGGAATGGGGCAGCCAAGCCCCTGCCTGCTCAGGCTTCGCCAGTTGACCCTGTTACCTCAGGGTGACAGTTCTCTATGTTAAAAGATTTGCATATGCTAAATAGGATTGTCAGCAGCTGAAGAGGTCCTGGGGGTGATTGGACTAGTAAAATATTTTTCCCTGAAAAAGCCTTTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCT... | GAGCTGGAATGGGGCAGCCAAGCCCCTGCCTGCTCAGGCTTCGCCAGTTGACCCTGTTACCTCAGGGTGACAGTTCTCTATGTTAAAAGATTTGCATATGCTAAATAGGATTGTCAGCAGCTGAAGAGGTCCTGGGGGTGATTGGACTAGTAAAATATTTTTCCCTGAAAAAGCCTTTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCT... | pathogenic | 65,600 |
Is the genetic change at chromosome 3, position 38550904, within gene SCN5A (sodium voltage-gated channel alpha subunit 5) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Brugada_syndrome', 'Cardiac_arrhythmia', 'Cardiovascular_phenotype'] | GTGACAGTTCTCTATGTTAAAAGATTTGCATATGCTAAATAGGATTGTCAGCAGCTGAAGAGGTCCTGGGGGTGATTGGACTAGTAAAATATTTTTCCCTGAAAAAGCCTTTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCC... | GTGACAGTTCTCTATGTTAAAAGATTTGCATATGCTAAATAGGATTGTCAGCAGCTGAAGAGGTCCTGGGGGTGATTGGACTAGTAAAATATTTTTCCCTGAAAAAGCCTTTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCC... | pathogenic | 65,605 |
Regarding the variant at chromosome 3 and position 38550909, affecting gene SCN5A (sodium voltage-gated channel alpha subunit 5): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cardiovascular_phenotype'] | AGTTCTCTATGTTAAAAGATTTGCATATGCTAAATAGGATTGTCAGCAGCTGAAGAGGTCCTGGGGGTGATTGGACTAGTAAAATATTTTTCCCTGAAAAAGCCTTTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACT... | AGTTCTCTATGTTAAAAGATTTGCATATGCTAAATAGGATTGTCAGCAGCTGAAGAGGTCCTGGGGGTGATTGGACTAGTAAAATATTTTTCCCTGAAAAAGCCTTTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACT... | pathogenic | 65,606 |
Clinical classification of chromosome 3, position 38550951, gene SCN5A (sodium voltage-gated channel alpha subunit 5): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Atrial_fibrillation,_familial,_10', 'Brugada_syndrome_1', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1E', 'Long_QT_syndrome_3', 'Progressive_familial_heart_block,_type_1A', 'SUDDEN_INFANT_DEATH_SYNDROME', 'Sick_sinus_syndrome_1', 'Ventricular_fibrillation,_paroxysmal_familial,_type_1'] | TCAGCAGCTGAAGAGGTCCTGGGGGTGATTGGACTAGTAAAATATTTTTCCCTGAAAAAGCCTTTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGA... | TCAGCAGCTGAAGAGGTCCTGGGGGTGATTGGACTAGTAAAATATTTTTCCCTGAAAAAGCCTTTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGA... | pathogenic | 65,611 |
A genetic variant on chromosome 3, position 38550986, affects the gene SCN5A (sodium voltage-gated channel alpha subunit 5). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiovascular_phenotype'] | AGTAAAATATTTTTCCCTGAAAAAGCCTTTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGA... | AGTAAAATATTTTTCCCTGAAAAAGCCTTTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGA... | pathogenic | 65,615 |
Variant at chromosome 3, position 38551007, gene SCN5A (sodium voltage-gated channel alpha subunit 5): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic | AAAGCCTTTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTC... | AAAGCCTTTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTC... | pathogenic | 65,620 |
A mutation at chromosome position 38551014 on chromosome 3 in gene SCN5A (sodium voltage-gated channel alpha subunit 5): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Brugada_syndrome', 'Brugada_syndrome_1', 'Cardiac_arrhythmia'] | TTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTCAGGCAGG... | TTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTCAGGCAGG... | pathogenic | 65,621 |
Is the genetic variant on chromosome 3, position 38551115, gene SCN5A (sodium voltage-gated channel alpha subunit 5), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Brugada_syndrome_1'] | ACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTCAGGCAGGCTGAGGGGCCGCCATGGCTCAGGGCTGGTGAACTTCTTAGCCCCAAACCCCCATGGCTCAGCCCTCTCTTCCGATGGCTGGCTGGGCAGGGCCTGCCAGGT... | ACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTCAGGCAGGCTGAGGGGCCGCCATGGCTCAGGGCTGGTGAACTTCTTAGCCCCAAACCCCCATGGCTCAGCCCTCTCTTCCGATGGCTGGCTGGGCAGGGCCTGCCAGGT... | pathogenic | 65,633 |
Gene SCN5A (sodium voltage-gated channel alpha subunit 5) variant at chromosome position 38551519 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Atrial_fibrillation,_familial,_10', 'Brugada_syndrome_1', 'Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Congenital_long_QT_syndrome', 'Dilated_cardiomyopathy_1E', 'Long_QT_syndrome', 'Long_QT_syndrome_3', 'Progressive_familial_heart_block,_type_1A', 'SUDDEN_INFANT_DEATH_SYNDROME', 'Sick_sinus_syndrom... | GAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCTGTGTCTGGCCTCCGTGTGTGAGGACTGTGTGTGTGTGCTTGTGTGAGTGGGGGTTCAGCCCTCCCAGCATCTCAGGTC... | GAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCTGTGTCTGGCCTCCGTGTGTGAGGACTGTGTGTGTGTGCTTGTGTGAGTGGGGGTTCAGCCCTCCCAGCATCTCAGGTC... | pathogenic | 65,689 |
Evaluate if the mutation on chromosome 3 at position 38554272 in SCN5A (sodium voltage-gated channel alpha subunit 5) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Brugada_syndrome', 'Brugada_syndrome_1'] | CTGGGTTTGGAGTTTTAAGGGGCATGGATATAAATCATGGAATAAAGAGTGAAATAAACTTGTCTTATATGGCCCAAGTGCCCTTTCCAGACTCCTTATATAATAATGTCACTGACTGACATGGGTCCAGTGTTTACGATCACTGGGGCAATGGGCCGAGCACTTTATAGCCATCATTTCATTTAGTCCTTCCCATTGTCCTAGGAAGTGAGCAGATGCCATCATCCTTATCTTCCAGAAGAGGAAACAGAGGTGAGGTAACTTACCCAAGTTGCCACCTAGTGAGTGAGAAGCTGGGATTTGACTCAGACGTTCGGGCT... | CTGGGTTTGGAGTTTTAAGGGGCATGGATATAAATCATGGAATAAAGAGTGAAATAAACTTGTCTTATATGGCCCAAGTGCCCTTTCCAGACTCCTTATATAATAATGTCACTGACTGACATGGGTCCAGTGTTTACGATCACTGGGGCAATGGGCCGAGCACTTTATAGCCATCATTTCATTTAGTCCTTCCCATTGTCCTAGGAAGTGAGCAGATGCCATCATCCTTATCTTCCAGAAGAGGAAACAGAGGTGAGGTAACTTACCCAAGTTGCCACCTAGTGAGTGAGAAGCTGGGATTTGACTCAGACGTTCGGGCT... | pathogenic | 65,694 |
The mutation in gene SCN5A (sodium voltage-gated channel alpha subunit 5) at chromosome 3, position 38555670—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Congenital_long_QT_syndrome', 'Long_QT_syndrome', 'Long_QT_syndrome_3'] | TATGGTATGTGAATTATGTCTCAGTAAAGCTGTTATATAAAAAAAAGATCTGGGCTCCGAGGTCAAACAGACATGGGTCAGGATTGGGTCTCTGCTTCTCCCTAGCTGCACAATCTCCCTCCTTTGGTGCTGAATTGACTGGGTGAATTGCATGAGGCAGGTGATGTCTGAAGGAGTCTGGCATACACCTTGGCGGTTAGCTCCAGAATTTTCCATCTTCAGGGATAATTTCTACTCTGGAGGGCCACCTATCCCCCATCCCTGGGGACCCATCTCATCCTGAGCTTCCTTCTCCTTCAACCTAAGTGCAGGCAGAATTA... | TATGGTATGTGAATTATGTCTCAGTAAAGCTGTTATATAAAAAAAAGATCTGGGCTCCGAGGTCAAACAGACATGGGTCAGGATTGGGTCTCTGCTTCTCCCTAGCTGCACAATCTCCCTCCTTTGGTGCTGAATTGACTGGGTGAATTGCATGAGGCAGGTGATGTCTGAAGGAGTCTGGCATACACCTTGGCGGTTAGCTCCAGAATTTTCCATCTTCAGGGATAATTTCTACTCTGGAGGGCCACCTATCCCCCATCCCTGGGGACCCATCTCATCCTGAGCTTCCTTCTCCTTCAACCTAAGTGCAGGCAGAATTA... | pathogenic | 65,727 |
Variant at chromosome position 38555718, chromosome 3, gene SCN5A (sodium voltage-gated channel alpha subunit 5): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Brugada_syndrome', 'Brugada_syndrome_1'] | TCTGGGCTCCGAGGTCAAACAGACATGGGTCAGGATTGGGTCTCTGCTTCTCCCTAGCTGCACAATCTCCCTCCTTTGGTGCTGAATTGACTGGGTGAATTGCATGAGGCAGGTGATGTCTGAAGGAGTCTGGCATACACCTTGGCGGTTAGCTCCAGAATTTTCCATCTTCAGGGATAATTTCTACTCTGGAGGGCCACCTATCCCCCATCCCTGGGGACCCATCTCATCCTGAGCTTCCTTCTCCTTCAACCTAAGTGCAGGCAGAATTAGCCTCCACAGCACCCACTCCCATTCCCAGACTCATCCTTGAAGCTCTC... | TCTGGGCTCCGAGGTCAAACAGACATGGGTCAGGATTGGGTCTCTGCTTCTCCCTAGCTGCACAATCTCCCTCCTTTGGTGCTGAATTGACTGGGTGAATTGCATGAGGCAGGTGATGTCTGAAGGAGTCTGGCATACACCTTGGCGGTTAGCTCCAGAATTTTCCATCTTCAGGGATAATTTCTACTCTGGAGGGCCACCTATCCCCCATCCCTGGGGACCCATCTCATCCTGAGCTTCCTTCTCCTTCAACCTAAGTGCAGGCAGAATTAGCCTCCACAGCACCCACTCCCATTCCCAGACTCATCCTTGAAGCTCTC... | pathogenic | 65,734 |
Does the variant on chromosome 3 at location 38556493 affecting gene SCN5A (sodium voltage-gated channel alpha subunit 5) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype'] | TGTCTCCACCATCATGGTCACCATATTCAAGCAGATCAGAAACATGATGGTGACGTCAAAGGCCTGCTTGGTCACAATGTCGAATATGAAGCCCTGGTACTTGTTCTGAAAGGAGAGGCAAATGGAAAGTGCTCAGCAGGGCCCTTGGGGAGGCTGGCAAATGCCTGTTGCTGCCTCTCATCCCAGACCACCCACCCTCCCACTCTACCCTCTAGTGAGCCCAAAGCCCCTGCAACACTGCCACAGAGAGTGCAGAGGAAAAAGTCCTGGAGGCTAAAGCCACTGGCTGTCCTGCTGAAATGCTTCCTGGGCTTCAAGGC... | TGTCTCCACCATCATGGTCACCATATTCAAGCAGATCAGAAACATGATGGTGACGTCAAAGGCCTGCTTGGTCACAATGTCGAATATGAAGCCCTGGTACTTGTTCTGAAAGGAGAGGCAAATGGAAAGTGCTCAGCAGGGCCCTTGGGGAGGCTGGCAAATGCCTGTTGCTGCCTCTCATCCCAGACCACCCACCCTCCCACTCTACCCTCTAGTGAGCCCAAAGCCCCTGCAACACTGCCACAGAGAGTGCAGAGGAAAAAGTCCTGGAGGCTAAAGCCACTGGCTGTCCTGCTGAAATGCTTCCTGGGCTTCAAGGC... | pathogenic | 65,748 |
Is chromosome 3, position 38556549, gene SCN5A (sodium voltage-gated channel alpha subunit 5) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Brugada_syndrome', 'Cardiac_arrhythmia'] | CAAAGGCCTGCTTGGTCACAATGTCGAATATGAAGCCCTGGTACTTGTTCTGAAAGGAGAGGCAAATGGAAAGTGCTCAGCAGGGCCCTTGGGGAGGCTGGCAAATGCCTGTTGCTGCCTCTCATCCCAGACCACCCACCCTCCCACTCTACCCTCTAGTGAGCCCAAAGCCCCTGCAACACTGCCACAGAGAGTGCAGAGGAAAAAGTCCTGGAGGCTAAAGCCACTGGCTGTCCTGCTGAAATGCTTCCTGGGCTTCAAGGCCCATCCCCAGAGCTCCATCTTCCATGAGGCCTTCCATGATGGATCTTCAGGGAGAG... | CAAAGGCCTGCTTGGTCACAATGTCGAATATGAAGCCCTGGTACTTGTTCTGAAAGGAGAGGCAAATGGAAAGTGCTCAGCAGGGCCCTTGGGGAGGCTGGCAAATGCCTGTTGCTGCCTCTCATCCCAGACCACCCACCCTCCCACTCTACCCTCTAGTGAGCCCAAAGCCCCTGCAACACTGCCACAGAGAGTGCAGAGGAAAAAGTCCTGGAGGCTAAAGCCACTGGCTGTCCTGCTGAAATGCTTCCTGGGCTTCAAGGCCCATCCCCAGAGCTCCATCTTCCATGAGGCCTTCCATGATGGATCTTCAGGGAGAG... | pathogenic | 65,751 |
A genetic variant on chromosome 3, position 38557229, affects the gene SCN5A (sodium voltage-gated channel alpha subunit 5). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Brugada_syndrome_1', 'Cardiovascular_phenotype', 'SUDDEN_INFANT_DEATH_SYNDROME'] | CACACACACACACAATTTTTTGGATAATGGCTTGATTGGGCCAAGGGAGTCAGTCTTGGAGAGGACCCCGCTCTCCAGAGCTCTTGGCTCTCCCCACCAGGTGACTCAGGAATCCGGCTCCCTGACTGTTCTGGGGTTCCAAGGATGAGGCTGTGAGTGGGGTGGGGTGGGGCTGTGAAGGCTGCACTGCTTTTCCTGGGGAAAGCCTGCATCCTTGAGGGGAAGGAGGAGATTTGCTCAGGTACAGAGGGTTCCTGTGGGTGGGGAGTGTCCTGGGATGCTACATCCTTATCATACCTTCCTCCCTATCTCTACGAGGC... | CACACACACACACAATTTTTTGGATAATGGCTTGATTGGGCCAAGGGAGTCAGTCTTGGAGAGGACCCCGCTCTCCAGAGCTCTTGGCTCTCCCCACCAGGTGACTCAGGAATCCGGCTCCCTGACTGTTCTGGGGTTCCAAGGATGAGGCTGTGAGTGGGGTGGGGTGGGGCTGTGAAGGCTGCACTGCTTTTCCTGGGGAAAGCCTGCATCCTTGAGGGGAAGGAGGAGATTTGCTCAGGTACAGAGGGTTCCTGTGGGTGGGGAGTGTCCTGGGATGCTACATCCTTATCATACCTTCCTCCCTATCTCTACGAGGC... | pathogenic | 65,758 |
Evaluate the clinical significance of the mutation at chromosome 3, position 38557285 in gene SCN5A (sodium voltage-gated channel alpha subunit 5): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype'] | TGGAGAGGACCCCGCTCTCCAGAGCTCTTGGCTCTCCCCACCAGGTGACTCAGGAATCCGGCTCCCTGACTGTTCTGGGGTTCCAAGGATGAGGCTGTGAGTGGGGTGGGGTGGGGCTGTGAAGGCTGCACTGCTTTTCCTGGGGAAAGCCTGCATCCTTGAGGGGAAGGAGGAGATTTGCTCAGGTACAGAGGGTTCCTGTGGGTGGGGAGTGTCCTGGGATGCTACATCCTTATCATACCTTCCTCCCTATCTCTACGAGGCTGGGACCTCTCTTCATGATCAGACATCTGATAGTGCCCCTCAGGCTGGGCTGAAAG... | TGGAGAGGACCCCGCTCTCCAGAGCTCTTGGCTCTCCCCACCAGGTGACTCAGGAATCCGGCTCCCTGACTGTTCTGGGGTTCCAAGGATGAGGCTGTGAGTGGGGTGGGGTGGGGCTGTGAAGGCTGCACTGCTTTTCCTGGGGAAAGCCTGCATCCTTGAGGGGAAGGAGGAGATTTGCTCAGGTACAGAGGGTTCCTGTGGGTGGGGAGTGTCCTGGGATGCTACATCCTTATCATACCTTCCTCCCTATCTCTACGAGGCTGGGACCTCTCTTCATGATCAGACATCTGATAGTGCCCCTCAGGCTGGGCTGAAAG... | pathogenic | 65,761 |
Variant on chromosome 3, at position 38560197, affecting SCN5A (sodium voltage-gated channel alpha subunit 5): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | AGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCAGCTCACTGC... | AGCTTGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCAGCTCACTGC... | pathogenic | 65,774 |
A genetic variant on chromosome 3, position 38560201, affects the gene SCN5A (sodium voltage-gated channel alpha subunit 5). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Brugada_syndrome_1', 'Cardiovascular_phenotype'] | TGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCAGCTCACTGCAACC... | TGCAAAATTTCTGAAAATGTAACAATGAGCTCTTGTGAGCTGGCACAAGCTGGCTCCAGCATACCACACCAAGGGAGTAAAGAGGGAGGCTGAACCAGAGGGGGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCAGCTCACTGCAACC... | pathogenic | 65,775 |
Benign or pathogenic: chromosome 3, position 38560303, gene SCN5A (sodium voltage-gated channel alpha subunit 5) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype'] | GGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCGTGCAACACCACTACCAGCTAATTTTTGTATTTTTAGTAG... | GGCCCTAGTGCTGGTGGCATTGTCTGCCCTAGTCTGGGCTGCTATGCAGAAAGAGCCCAAGAGACACGCTTGGTGTGAGACTGACTCCCCAGTGAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCGTGCAACACCACTACCAGCTAATTTTTGTATTTTTAGTAG... | pathogenic | 65,785 |
Is the variant located on chromosome 3 at position 38560396, gene SCN5A (sodium voltage-gated channel alpha subunit 5), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Brugada_syndrome', 'Primary_dilated_cardiomyopathy', 'Primary_familial_dilated_cardiomyopathy'] | GAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCGTGCAACACCACTACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCCACCTACCTCAGGCTCCCAAAGTGCTGGGATTACAA... | GAAGTCTCATTTGTGTTTTTGGCCAAATCCAGTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCGTGCAACACCACTACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCCACCTACCTCAGGCTCCCAAAGTGCTGGGATTACAA... | pathogenic | 65,795 |
Does the chromosome 3 mutation at position 38560427 within gene SCN5A (sodium voltage-gated channel alpha subunit 5) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic | GTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCGTGCAACACCACTACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCCACCTACCTCAGGCTCCCAAAGTGCTGGGATTACAAGTATGAGCTACCATGCCTGGCCCCCAAGCTT... | GTCCTGCCCCGAGCCTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCGTGCAACACCACTACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCCACCTACCTCAGGCTCCCAAAGTGCTGGGATTACAAGTATGAGCTACCATGCCTGGCCCCCAAGCTT... | pathogenic | 65,802 |
The genetic variant at chromosome 3, position 38562413, affecting gene SCN5A (sodium voltage-gated channel alpha subunit 5): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Brugada_syndrome', 'Cardiac_arrhythmia'] | TGAGGCAGACGAGGAGGACGTTCATGATGGACGGGATGGCGCCCACCAGGGCATTGACCACCACCTCAAGTGGACAGAGAAGTGGCTCAGTTCCTGGGGGTGCCCAGAGCACATGCCCTTTTCAAGACCCCCTGCCACCCCAAGAAAGAATGAACTCCCTGGCTGCAGGGGGCTGTGCAGGTGGGTGTGCAGATCCCACACTCAAGGGAGAGGCCAGCTCCATGGCTAGAAGCCCTGGTGGGGAGTGAGGGGAGTGCACCCTAGAGTCTGGTGTGGCTTCAGAACATCTGGTTTCCCTTCTTGGCCCTGCCCTGAATCTG... | TGAGGCAGACGAGGAGGACGTTCATGATGGACGGGATGGCGCCCACCAGGGCATTGACCACCACCTCAAGTGGACAGAGAAGTGGCTCAGTTCCTGGGGGTGCCCAGAGCACATGCCCTTTTCAAGACCCCCTGCCACCCCAAGAAAGAATGAACTCCCTGGCTGCAGGGGGCTGTGCAGGTGGGTGTGCAGATCCCACACTCAAGGGAGAGGCCAGCTCCATGGCTAGAAGCCCTGGTGGGGAGTGAGGGGAGTGCACCCTAGAGTCTGGTGTGGCTTCAGAACATCTGGTTTCCCTTCTTGGCCCTGCCCTGAATCTG... | pathogenic | 65,807 |
Determine if the mutation at chromosome 3, position 38566483 in gene SCN5A (sodium voltage-gated channel alpha subunit 5) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype'] | TTGTTCCCTAAGATCCCCAGCACCATAACAGTACTTGCACACAGTAGAGACCCAACTGCATTTATTGAAAAATAATGCAGAATTCATCTTGGAAACATCCTTCCCTAGACTCTGAGGCCTGAGACAAACTTTCCCATGAAGCATGCGGATGGGGTAGGGGCACAGCAGCGTGGCCAGTGCCAAGAAAGCTGGATTCCACACCCACTTCCTTCTGCTCAGCCTTGGGCAAGGCCCCTCCCTGCTGTGAGCCTTGGTTGCCTTCTCCACAGGCTCCTTCTCTCTTGGGCCTGAGCAGGGAAGCACTGCCGATTCCCTTTCCC... | TTGTTCCCTAAGATCCCCAGCACCATAACAGTACTTGCACACAGTAGAGACCCAACTGCATTTATTGAAAAATAATGCAGAATTCATCTTGGAAACATCCTTCCCTAGACTCTGAGGCCTGAGACAAACTTTCCCATGAAGCATGCGGATGGGGTAGGGGCACAGCAGCGTGGCCAGTGCCAAGAAAGCTGGATTCCACACCCACTTCCTTCTGCTCAGCCTTGGGCAAGGCCCCTCCCTGCTGTGAGCCTTGGTTGCCTTCTCCACAGGCTCCTTCTCTCTTGGGCCTGAGCAGGGAAGCACTGCCGATTCCCTTTCCC... | pathogenic | 65,831 |
Evaluate if the mutation on chromosome 3 at position 38566552 in SCN5A (sodium voltage-gated channel alpha subunit 5) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype'] | AAATAATGCAGAATTCATCTTGGAAACATCCTTCCCTAGACTCTGAGGCCTGAGACAAACTTTCCCATGAAGCATGCGGATGGGGTAGGGGCACAGCAGCGTGGCCAGTGCCAAGAAAGCTGGATTCCACACCCACTTCCTTCTGCTCAGCCTTGGGCAAGGCCCCTCCCTGCTGTGAGCCTTGGTTGCCTTCTCCACAGGCTCCTTCTCTCTTGGGCCTGAGCAGGGAAGCACTGCCGATTCCCTTTCCCTTGCCTTGGCTCTGAGCTCCCCAAGGTGGCCAGCGGCTGGTGGGTGGGTTTCCCCAGAAGTCTGCGCAG... | AAATAATGCAGAATTCATCTTGGAAACATCCTTCCCTAGACTCTGAGGCCTGAGACAAACTTTCCCATGAAGCATGCGGATGGGGTAGGGGCACAGCAGCGTGGCCAGTGCCAAGAAAGCTGGATTCCACACCCACTTCCTTCTGCTCAGCCTTGGGCAAGGCCCCTCCCTGCTGTGAGCCTTGGTTGCCTTCTCCACAGGCTCCTTCTCTCTTGGGCCTGAGCAGGGAAGCACTGCCGATTCCCTTTCCCTTGCCTTGGCTCTGAGCTCCCCAAGGTGGCCAGCGGCTGGTGGGTGGGTTTCCCCAGAAGTCTGCGCAG... | pathogenic | 65,836 |
Considering the genetic mutation at chromosome 3, position 38575364, impacting SCN5A (sodium voltage-gated channel alpha subunit 5): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiac_arrhythmia'] | TTATTAAAACATGTGTTTGATCTTGCCTCTATTATATTATTTTGTTTTCTGATTTTGTTTTCTTGTTGCTTCTTTTTCCTTCTACCTTTTGCTGTGAGATCTCTGTTTTTTCTTTTTTTAAAAAAAATTTTCCCTCAGCAATTTGGAAAGGATATAGTTTGCTTTCTGTTAAACAAGTTTACAACTTTAAATAACACACTCAGATTTCTCTTTTTCTCAATATATCATTGACGTGGTTTTTTAACAACAGAGCTTGGCTGTCTACCCTGATTAGATTCACCAGATGCTTGCCAAAACTCCTCCTCACTTATGCCAAGCTG... | TTATTAAAACATGTGTTTGATCTTGCCTCTATTATATTATTTTGTTTTCTGATTTTGTTTTCTTGTTGCTTCTTTTTCCTTCTACCTTTTGCTGTGAGATCTCTGTTTTTTCTTTTTTTAAAAAAAATTTTCCCTCAGCAATTTGGAAAGGATATAGTTTGCTTTCTGTTAAACAAGTTTACAACTTTAAATAACACACTCAGATTTCTCTTTTTCTCAATATATCATTGACGTGGTTTTTTAACAACAGAGCTTGGCTGTCTACCCTGATTAGATTCACCAGATGCTTGCCAAAACTCCTCCTCACTTATGCCAAGCTG... | pathogenic | 65,850 |
Clinical classification of chromosome 3, position 38575444, gene SCN5A (sodium voltage-gated channel alpha subunit 5): benign or pathogenic? Disease(s) if pathogenic? | pathogenic | TCTACCTTTTGCTGTGAGATCTCTGTTTTTTCTTTTTTTAAAAAAAATTTTCCCTCAGCAATTTGGAAAGGATATAGTTTGCTTTCTGTTAAACAAGTTTACAACTTTAAATAACACACTCAGATTTCTCTTTTTCTCAATATATCATTGACGTGGTTTTTTAACAACAGAGCTTGGCTGTCTACCCTGATTAGATTCACCAGATGCTTGCCAAAACTCCTCCTCACTTATGCCAAGCTGAGCTTTCCCTCCACAGCCCAGACGAAATGGCTCTGGCTGCCCTTGTTTGTGGCTGTTTAAAAACAAAACTAGTTAACATA... | TCTACCTTTTGCTGTGAGATCTCTGTTTTTTCTTTTTTTAAAAAAAATTTTCCCTCAGCAATTTGGAAAGGATATAGTTTGCTTTCTGTTAAACAAGTTTACAACTTTAAATAACACACTCAGATTTCTCTTTTTCTCAATATATCATTGACGTGGTTTTTTAACAACAGAGCTTGGCTGTCTACCCTGATTAGATTCACCAGATGCTTGCCAAAACTCCTCCTCACTTATGCCAAGCTGAGCTTTCCCTCCACAGCCCAGACGAAATGGCTCTGGCTGCCCTTGTTTGTGGCTGTTTAAAAACAAAACTAGTTAACATA... | pathogenic | 65,856 |
Considering the genetic mutation at chromosome 3, position 38576675, impacting SCN5A (sodium voltage-gated channel alpha subunit 5): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype'] | TGTTCCTGAGGCCAGGGCTGGGGCCTCCTCCTGTAGCTCCCACATGGCTGAATACATAGAGCTAGATACAAGGAGGGTTTTTAGAAGACTGACTGAACAAATGAGAAGTCAAGGCAAAGGACTCTGGAATCTGACTGCTTGGGTTCAAATGCCAGATCTGTGGTTCCTGAGTGGTGGGACCTTGAGCAAGTTACTTAATGCTTCTACAAAGAGTTGTCATGGGGATTACGCATCATCATGTGTGAACTATAGGGCGCAGCCTCCAGCCTGAAGACATAGACTCAGTGGAGCCAGCACTGTACTGTGAGCCAGCGTGGTTA... | TGTTCCTGAGGCCAGGGCTGGGGCCTCCTCCTGTAGCTCCCACATGGCTGAATACATAGAGCTAGATACAAGGAGGGTTTTTAGAAGACTGACTGAACAAATGAGAAGTCAAGGCAAAGGACTCTGGAATCTGACTGCTTGGGTTCAAATGCCAGATCTGTGGTTCCTGAGTGGTGGGACCTTGAGCAAGTTACTTAATGCTTCTACAAAGAGTTGTCATGGGGATTACGCATCATCATGTGTGAACTATAGGGCGCAGCCTCCAGCCTGAAGACATAGACTCAGTGGAGCCAGCACTGTACTGTGAGCCAGCGTGGTTA... | pathogenic | 65,867 |
Clinical significance of chromosome 3, position 38576680, gene SCN5A (sodium voltage-gated channel alpha subunit 5): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Brugada_syndrome_1'] | CTGAGGCCAGGGCTGGGGCCTCCTCCTGTAGCTCCCACATGGCTGAATACATAGAGCTAGATACAAGGAGGGTTTTTAGAAGACTGACTGAACAAATGAGAAGTCAAGGCAAAGGACTCTGGAATCTGACTGCTTGGGTTCAAATGCCAGATCTGTGGTTCCTGAGTGGTGGGACCTTGAGCAAGTTACTTAATGCTTCTACAAAGAGTTGTCATGGGGATTACGCATCATCATGTGTGAACTATAGGGCGCAGCCTCCAGCCTGAAGACATAGACTCAGTGGAGCCAGCACTGTACTGTGAGCCAGCGTGGTTAACTGC... | CTGAGGCCAGGGCTGGGGCCTCCTCCTGTAGCTCCCACATGGCTGAATACATAGAGCTAGATACAAGGAGGGTTTTTAGAAGACTGACTGAACAAATGAGAAGTCAAGGCAAAGGACTCTGGAATCTGACTGCTTGGGTTCAAATGCCAGATCTGTGGTTCCTGAGTGGTGGGACCTTGAGCAAGTTACTTAATGCTTCTACAAAGAGTTGTCATGGGGATTACGCATCATCATGTGTGAACTATAGGGCGCAGCCTCCAGCCTGAAGACATAGACTCAGTGGAGCCAGCACTGTACTGTGAGCCAGCGTGGTTAACTGC... | pathogenic | 65,869 |
Does the variant on chromosome 3 at location 38576776 affecting gene SCN5A (sodium voltage-gated channel alpha subunit 5) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype'] | TGAGAAGTCAAGGCAAAGGACTCTGGAATCTGACTGCTTGGGTTCAAATGCCAGATCTGTGGTTCCTGAGTGGTGGGACCTTGAGCAAGTTACTTAATGCTTCTACAAAGAGTTGTCATGGGGATTACGCATCATCATGTGTGAACTATAGGGCGCAGCCTCCAGCCTGAAGACATAGACTCAGTGGAGCCAGCACTGTACTGTGAGCCAGCGTGGTTAACTGCACTGTGACAGCTTGACAGAACACTGATGCTGTGTGCAGGTGGGTGTGTCACCAGAGCTCTGGTGTAGGAGGCTGGTGATCTGGGGCAAATCATTTC... | TGAGAAGTCAAGGCAAAGGACTCTGGAATCTGACTGCTTGGGTTCAAATGCCAGATCTGTGGTTCCTGAGTGGTGGGACCTTGAGCAAGTTACTTAATGCTTCTACAAAGAGTTGTCATGGGGATTACGCATCATCATGTGTGAACTATAGGGCGCAGCCTCCAGCCTGAAGACATAGACTCAGTGGAGCCAGCACTGTACTGTGAGCCAGCGTGGTTAACTGCACTGTGACAGCTTGACAGAACACTGATGCTGTGTGCAGGTGGGTGTGTCACCAGAGCTCTGGTGTAGGAGGCTGGTGATCTGGGGCAAATCATTTC... | pathogenic | 65,875 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 38579461, gene SCN5A. What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype'] | GTGCCCTTGTGAGTGTCTGTGTGTGTCACTTGTGGGTGTGGGTGTAAAGGGGTGTTACAGGGGCCACTGTGGGTACCCTGCCCAATTCCACTACATAAGACCACTGCACCCATTCCCAGCCACTTGAATGCTAGCTGCTTAGCTGGCCCTCCTCCAGAAAATCATCTTCAGCTGGGGGACTGCCGTCCCAAGGGGTGGCCGGTGCCCAGCAGCCACTGATACAAGAATACAGAAGGCCAGCCCCTAGCCTTGAGTTGGGGCAATGCTGTGGTGCAATTCATGCCCCAGAGCTCTACTTGGGACAGGATGAGGCTGACTCC... | GTGCCCTTGTGAGTGTCTGTGTGTGTCACTTGTGGGTGTGGGTGTAAAGGGGTGTTACAGGGGCCACTGTGGGTACCCTGCCCAATTCCACTACATAAGACCACTGCACCCATTCCCAGCCACTTGAATGCTAGCTGCTTAGCTGGCCCTCCTCCAGAAAATCATCTTCAGCTGGGGGACTGCCGTCCCAAGGGGTGGCCGGTGCCCAGCAGCCACTGATACAAGAATACAGAAGGCCAGCCCCTAGCCTTGAGTTGGGGCAATGCTGTGGTGCAATTCATGCCCCAGAGCTCTACTTGGGACAGGATGAGGCTGACTCC... | pathogenic | 65,890 |
Mutation at chromosome 3, position 38579476, within SCN5A: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic | TCTGTGTGTGTCACTTGTGGGTGTGGGTGTAAAGGGGTGTTACAGGGGCCACTGTGGGTACCCTGCCCAATTCCACTACATAAGACCACTGCACCCATTCCCAGCCACTTGAATGCTAGCTGCTTAGCTGGCCCTCCTCCAGAAAATCATCTTCAGCTGGGGGACTGCCGTCCCAAGGGGTGGCCGGTGCCCAGCAGCCACTGATACAAGAATACAGAAGGCCAGCCCCTAGCCTTGAGTTGGGGCAATGCTGTGGTGCAATTCATGCCCCAGAGCTCTACTTGGGACAGGATGAGGCTGACTCCAGCTGGAAAGCCTTT... | TCTGTGTGTGTCACTTGTGGGTGTGGGTGTAAAGGGGTGTTACAGGGGCCACTGTGGGTACCCTGCCCAATTCCACTACATAAGACCACTGCACCCATTCCCAGCCACTTGAATGCTAGCTGCTTAGCTGGCCCTCCTCCAGAAAATCATCTTCAGCTGGGGGACTGCCGTCCCAAGGGGTGGCCGGTGCCCAGCAGCCACTGATACAAGAATACAGAAGGCCAGCCCCTAGCCTTGAGTTGGGGCAATGCTGTGGTGCAATTCATGCCCCAGAGCTCTACTTGGGACAGGATGAGGCTGACTCCAGCTGGAAAGCCTTT... | pathogenic | 65,894 |
Assess the variant on chromosome 3, position 38581006, impacting SCN5A: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Brugada_syndrome', 'Cardiovascular_phenotype', 'SCN5A-related_disorder'] | CAGGCGTGAGCCACCGTGCCCAGCCTCCTGAAGTCTTCTTTGGATGGGGAGATTCACAGGACAAACATTTGCCAAACAGGACCAAAACACAGGGATGGAGTATGTGGAGAGGGTGAACACATGGAGGTAGTGGGTTAGTCCTGCATCAGAGTTTGGGACCAGAATTTCCAGAATTTCCCATTGGCCCTGGGCCCTGTACCGTCTCTCCCCTGTCAGGACAGGGATGCCCACCCTCCCCTCTGCAGACTGGTCTTCCACGCTGCCTGTGACAGTGGCTGTGGCTCCCAACAGCAAATGCAGGCATGCACCTCTCACAGCCT... | CAGGCGTGAGCCACCGTGCCCAGCCTCCTGAAGTCTTCTTTGGATGGGGAGATTCACAGGACAAACATTTGCCAAACAGGACCAAAACACAGGGATGGAGTATGTGGAGAGGGTGAACACATGGAGGTAGTGGGTTAGTCCTGCATCAGAGTTTGGGACCAGAATTTCCAGAATTTCCCATTGGCCCTGGGCCCTGTACCGTCTCTCCCCTGTCAGGACAGGGATGCCCACCCTCCCCTCTGCAGACTGGTCTTCCACGCTGCCTGTGACAGTGGCTGTGGCTCCCAACAGCAAATGCAGGCATGCACCTCTCACAGCCT... | pathogenic | 65,910 |
The mutation in gene SCN5A at chromosome 3, position 38581136—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | TGGGTTAGTCCTGCATCAGAGTTTGGGACCAGAATTTCCAGAATTTCCCATTGGCCCTGGGCCCTGTACCGTCTCTCCCCTGTCAGGACAGGGATGCCCACCCTCCCCTCTGCAGACTGGTCTTCCACGCTGCCTGTGACAGTGGCTGTGGCTCCCAACAGCAAATGCAGGCATGCACCTCTCACAGCCTGGCTCTGACCCAAGCAGCGGCGCCCAGCTGGCTTCAGGGACAAAGGCATGCATTACCTCACCGCACCCTGGGGCCTGGGGTTCCGCTTTCCACTGCTGCCGCCAGTCGGCCTGAGATGCACTGGCCTCGG... | TGGGTTAGTCCTGCATCAGAGTTTGGGACCAGAATTTCCAGAATTTCCCATTGGCCCTGGGCCCTGTACCGTCTCTCCCCTGTCAGGACAGGGATGCCCACCCTCCCCTCTGCAGACTGGTCTTCCACGCTGCCTGTGACAGTGGCTGTGGCTCCCAACAGCAAATGCAGGCATGCACCTCTCACAGCCTGGCTCTGACCCAAGCAGCGGCGCCCAGCTGGCTTCAGGGACAAAGGCATGCATTACCTCACCGCACCCTGGGGCCTGGGGTTCCGCTTTCCACTGCTGCCGCCAGTCGGCCTGAGATGCACTGGCCTCGG... | pathogenic | 65,928 |
Evaluate the clinical significance of the mutation at chromosome 3, position 38581152 in gene SCN5A: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Brugada_syndrome_(shorter-than-normal_QT_interval)'] | CAGAGTTTGGGACCAGAATTTCCAGAATTTCCCATTGGCCCTGGGCCCTGTACCGTCTCTCCCCTGTCAGGACAGGGATGCCCACCCTCCCCTCTGCAGACTGGTCTTCCACGCTGCCTGTGACAGTGGCTGTGGCTCCCAACAGCAAATGCAGGCATGCACCTCTCACAGCCTGGCTCTGACCCAAGCAGCGGCGCCCAGCTGGCTTCAGGGACAAAGGCATGCATTACCTCACCGCACCCTGGGGCCTGGGGTTCCGCTTTCCACTGCTGCCGCCAGTCGGCCTGAGATGCACTGGCCTCGGCCTCAGAGGAGGCAGT... | CAGAGTTTGGGACCAGAATTTCCAGAATTTCCCATTGGCCCTGGGCCCTGTACCGTCTCTCCCCTGTCAGGACAGGGATGCCCACCCTCCCCTCTGCAGACTGGTCTTCCACGCTGCCTGTGACAGTGGCTGTGGCTCCCAACAGCAAATGCAGGCATGCACCTCTCACAGCCTGGCTCTGACCCAAGCAGCGGCGCCCAGCTGGCTTCAGGGACAAAGGCATGCATTACCTCACCGCACCCTGGGGCCTGGGGTTCCGCTTTCCACTGCTGCCGCCAGTCGGCCTGAGATGCACTGGCCTCGGCCTCAGAGGAGGCAGT... | pathogenic | 65,930 |
Variant at chromosome position 38581292, chromosome 3, gene SCN5A: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Brugada_syndrome', 'Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome_3'] | AACAGCAAATGCAGGCATGCACCTCTCACAGCCTGGCTCTGACCCAAGCAGCGGCGCCCAGCTGGCTTCAGGGACAAAGGCATGCATTACCTCACCGCACCCTGGGGCCTGGGGTTCCGCTTTCCACTGCTGCCGCCAGTCGGCCTGAGATGCACTGGCCTCGGCCTCAGAGGAGGCAGTCGCTGACACCTGGCTCCAGGTCCTGGAATCCGGAGGGGCCTCTGGGCCACCGGACACAGGCTGGGATTCCTGCTGAAAAGACCCCAGCCTATGAGCTGAGTCCACACACCCAGCCAGAGGGTCTCCAGGGCCCTGACCCT... | AACAGCAAATGCAGGCATGCACCTCTCACAGCCTGGCTCTGACCCAAGCAGCGGCGCCCAGCTGGCTTCAGGGACAAAGGCATGCATTACCTCACCGCACCCTGGGGCCTGGGGTTCCGCTTTCCACTGCTGCCGCCAGTCGGCCTGAGATGCACTGGCCTCGGCCTCAGAGGAGGCAGTCGCTGACACCTGGCTCCAGGTCCTGGAATCCGGAGGGGCCTCTGGGCCACCGGACACAGGCTGGGATTCCTGCTGAAAAGACCCCAGCCTATGAGCTGAGTCCACACACCCAGCCAGAGGGTCTCCAGGGCCCTGACCCT... | pathogenic | 65,943 |
Chromosome 3, position 38581358, gene SCN5A: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype'] | TTCAGGGACAAAGGCATGCATTACCTCACCGCACCCTGGGGCCTGGGGTTCCGCTTTCCACTGCTGCCGCCAGTCGGCCTGAGATGCACTGGCCTCGGCCTCAGAGGAGGCAGTCGCTGACACCTGGCTCCAGGTCCTGGAATCCGGAGGGGCCTCTGGGCCACCGGACACAGGCTGGGATTCCTGCTGAAAAGACCCCAGCCTATGAGCTGAGTCCACACACCCAGCCAGAGGGTCTCCAGGGCCCTGACCCTGGGGGTTTCAGACCCTGCCCATGCATCTGGGGCATTGCCTCCAGCTGTCTTCATGGGGCCTCCATC... | TTCAGGGACAAAGGCATGCATTACCTCACCGCACCCTGGGGCCTGGGGTTCCGCTTTCCACTGCTGCCGCCAGTCGGCCTGAGATGCACTGGCCTCGGCCTCAGAGGAGGCAGTCGCTGACACCTGGCTCCAGGTCCTGGAATCCGGAGGGGCCTCTGGGCCACCGGACACAGGCTGGGATTCCTGCTGAAAAGACCCCAGCCTATGAGCTGAGTCCACACACCCAGCCAGAGGGTCTCCAGGGCCCTGACCCTGGGGGTTTCAGACCCTGCCCATGCATCTGGGGCATTGCCTCCAGCTGTCTTCATGGGGCCTCCATC... | pathogenic | 65,948 |
Mutation found at chromosome 3 position 38585894, gene SCN5A (sodium voltage-gated channel alpha subunit 5): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Brugada_syndrome', 'Cardiovascular_phenotype', 'Congenital_long_QT_syndrome'] | ATGTGTGGGCCAACTGTGTACCCAGCAAGGTGGCTTCATGTCCACAGCGGACACGGATTGCTGCCTGAACCACTGACGACCCCAACCTTCCCTCTTCCTAAGGTGCCTTCTCTGGTATTTAAATTTTGGCTTTTCTCAGTTCCAGAATTCCCCACATTGGAAAGACACAAGACGAGATGCACCTGCCCAAGGACAGACAGGTACCCACAGGAGCAAAGGTGTGGGCCCCTCATGATGGGACAGCAGAGACTCCTACCACGCTACTCAGGGTGACATATAAAGCTCCTATGGGCCCCACCTTACCTGGACCACCACCTGTC... | ATGTGTGGGCCAACTGTGTACCCAGCAAGGTGGCTTCATGTCCACAGCGGACACGGATTGCTGCCTGAACCACTGACGACCCCAACCTTCCCTCTTCCTAAGGTGCCTTCTCTGGTATTTAAATTTTGGCTTTTCTCAGTTCCAGAATTCCCCACATTGGAAAGACACAAGACGAGATGCACCTGCCCAAGGACAGACAGGTACCCACAGGAGCAAAGGTGTGGGCCCCTCATGATGGGACAGCAGAGACTCCTACCACGCTACTCAGGGTGACATATAAAGCTCCTATGGGCCCCACCTTACCTGGACCACCACCTGTC... | pathogenic | 65,977 |
Benign or pathogenic: chromosome 3, position 38585926, gene SCN5A (sodium voltage-gated channel alpha subunit 5) variant? Disease(s) if pathogenic? | pathogenic; ['Atrial_fibrillation,_familial,_10', 'Brugada_syndrome', 'Brugada_syndrome_1', 'Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1E', 'Long_QT_syndrome_3', 'Progressive_familial_heart_block,_type_1A', 'SUDDEN_INFANT_DEATH_SYNDROME', 'Sick_sinus_syndrome_1', 'Ventricular_fibrillation... | GCTTCATGTCCACAGCGGACACGGATTGCTGCCTGAACCACTGACGACCCCAACCTTCCCTCTTCCTAAGGTGCCTTCTCTGGTATTTAAATTTTGGCTTTTCTCAGTTCCAGAATTCCCCACATTGGAAAGACACAAGACGAGATGCACCTGCCCAAGGACAGACAGGTACCCACAGGAGCAAAGGTGTGGGCCCCTCATGATGGGACAGCAGAGACTCCTACCACGCTACTCAGGGTGACATATAAAGCTCCTATGGGCCCCACCTTACCTGGACCACCACCTGTCTGCACCTGTGCTTTGCTCATCCTGTTCCTTCC... | GCTTCATGTCCACAGCGGACACGGATTGCTGCCTGAACCACTGACGACCCCAACCTTCCCTCTTCCTAAGGTGCCTTCTCTGGTATTTAAATTTTGGCTTTTCTCAGTTCCAGAATTCCCCACATTGGAAAGACACAAGACGAGATGCACCTGCCCAAGGACAGACAGGTACCCACAGGAGCAAAGGTGTGGGCCCCTCATGATGGGACAGCAGAGACTCCTACCACGCTACTCAGGGTGACATATAAAGCTCCTATGGGCCCCACCTTACCTGGACCACCACCTGTCTGCACCTGTGCTTTGCTCATCCTGTTCCTTCC... | pathogenic | 65,981 |
Is chromosome 3, position 38585944, gene SCN5A (sodium voltage-gated channel alpha subunit 5) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype'] | ACACGGATTGCTGCCTGAACCACTGACGACCCCAACCTTCCCTCTTCCTAAGGTGCCTTCTCTGGTATTTAAATTTTGGCTTTTCTCAGTTCCAGAATTCCCCACATTGGAAAGACACAAGACGAGATGCACCTGCCCAAGGACAGACAGGTACCCACAGGAGCAAAGGTGTGGGCCCCTCATGATGGGACAGCAGAGACTCCTACCACGCTACTCAGGGTGACATATAAAGCTCCTATGGGCCCCACCTTACCTGGACCACCACCTGTCTGCACCTGTGCTTTGCTCATCCTGTTCCTTCCCTCTTCAGCATTGCCTGT... | ACACGGATTGCTGCCTGAACCACTGACGACCCCAACCTTCCCTCTTCCTAAGGTGCCTTCTCTGGTATTTAAATTTTGGCTTTTCTCAGTTCCAGAATTCCCCACATTGGAAAGACACAAGACGAGATGCACCTGCCCAAGGACAGACAGGTACCCACAGGAGCAAAGGTGTGGGCCCCTCATGATGGGACAGCAGAGACTCCTACCACGCTACTCAGGGTGACATATAAAGCTCCTATGGGCCCCACCTTACCTGGACCACCACCTGTCTGCACCTGTGCTTTGCTCATCCTGTTCCTTCCCTCTTCAGCATTGCCTGT... | pathogenic | 65,983 |
Determine whether the variant at chromosome 3, position 38585944, in gene SCN5A (sodium voltage-gated channel alpha subunit 5) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Brugada_syndrome', 'Brugada_syndrome_1', 'Cardiovascular_phenotype'] | ACACGGATTGCTGCCTGAACCACTGACGACCCCAACCTTCCCTCTTCCTAAGGTGCCTTCTCTGGTATTTAAATTTTGGCTTTTCTCAGTTCCAGAATTCCCCACATTGGAAAGACACAAGACGAGATGCACCTGCCCAAGGACAGACAGGTACCCACAGGAGCAAAGGTGTGGGCCCCTCATGATGGGACAGCAGAGACTCCTACCACGCTACTCAGGGTGACATATAAAGCTCCTATGGGCCCCACCTTACCTGGACCACCACCTGTCTGCACCTGTGCTTTGCTCATCCTGTTCCTTCCCTCTTCAGCATTGCCTGT... | ACACGGATTGCTGCCTGAACCACTGACGACCCCAACCTTCCCTCTTCCTAAGGTGCCTTCTCTGGTATTTAAATTTTGGCTTTTCTCAGTTCCAGAATTCCCCACATTGGAAAGACACAAGACGAGATGCACCTGCCCAAGGACAGACAGGTACCCACAGGAGCAAAGGTGTGGGCCCCTCATGATGGGACAGCAGAGACTCCTACCACGCTACTCAGGGTGACATATAAAGCTCCTATGGGCCCCACCTTACCTGGACCACCACCTGTCTGCACCTGTGCTTTGCTCATCCTGTTCCTTCCCTCTTCAGCATTGCCTGT... | pathogenic | 65,984 |
Benign or pathogenic: chromosome 3, position 38587400, gene SCN5A (sodium voltage-gated channel alpha subunit 5) variant? Disease(s) if pathogenic? | pathogenic; ['Brugada_syndrome'] | AGTGGTGAACAGATAGATTGGTGTGTTCATTGGTGGGTGGGTGATTGATAAGTGGATGATCAATAGATAGATGGCTGTATGAGCATATAGGTGCAAGAATAAATGGGTACATTGAATAGATGGTTTGTTGATAAGTACATAGATGGATGGGTAAGTGAGTGCATGGGGGGGGTAGGTGAAATAAATGAGTGAGTAGTTAGATGGAAAGGTGGGTAAATGAATAGATGGATGGACGGATGGGTAGATGGATTGATAGAAGGGTAAGTAAATGGATAATTGGATGGGTGGGTAGCTGGGTAGATGAGTGGATGGTGTGTGTG... | AGTGGTGAACAGATAGATTGGTGTGTTCATTGGTGGGTGGGTGATTGATAAGTGGATGATCAATAGATAGATGGCTGTATGAGCATATAGGTGCAAGAATAAATGGGTACATTGAATAGATGGTTTGTTGATAAGTACATAGATGGATGGGTAAGTGAGTGCATGGGGGGGGTAGGTGAAATAAATGAGTGAGTAGTTAGATGGAAAGGTGGGTAAATGAATAGATGGATGGACGGATGGGTAGATGGATTGATAGAAGGGTAAGTAAATGGATAATTGGATGGGTGGGTAGCTGGGTAGATGAGTGGATGGTGTGTGTG... | pathogenic | 65,997 |
Considering the variant on chromosome 3, location 38587409, involving gene SCN5A (sodium voltage-gated channel alpha subunit 5), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Atrial_fibrillation,_familial,_10', 'Brugada_syndrome_1', 'Dilated_cardiomyopathy_1E', 'Long_QT_syndrome_3', 'Progressive_familial_heart_block,_type_1A', 'SUDDEN_INFANT_DEATH_SYNDROME', 'Sick_sinus_syndrome_1', 'Ventricular_fibrillation,_paroxysmal_familial,_type_1'] | CAGATAGATTGGTGTGTTCATTGGTGGGTGGGTGATTGATAAGTGGATGATCAATAGATAGATGGCTGTATGAGCATATAGGTGCAAGAATAAATGGGTACATTGAATAGATGGTTTGTTGATAAGTACATAGATGGATGGGTAAGTGAGTGCATGGGGGGGGTAGGTGAAATAAATGAGTGAGTAGTTAGATGGAAAGGTGGGTAAATGAATAGATGGATGGACGGATGGGTAGATGGATTGATAGAAGGGTAAGTAAATGGATAATTGGATGGGTGGGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGGCCCTTG... | CAGATAGATTGGTGTGTTCATTGGTGGGTGGGTGATTGATAAGTGGATGATCAATAGATAGATGGCTGTATGAGCATATAGGTGCAAGAATAAATGGGTACATTGAATAGATGGTTTGTTGATAAGTACATAGATGGATGGGTAAGTGAGTGCATGGGGGGGGTAGGTGAAATAAATGAGTGAGTAGTTAGATGGAAAGGTGGGTAAATGAATAGATGGATGGACGGATGGGTAGATGGATTGATAGAAGGGTAAGTAAATGGATAATTGGATGGGTGGGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGGCCCTTG... | pathogenic | 65,998 |
Is the genetic variant on chromosome 3, position 38587501, gene SCN5A (sodium voltage-gated channel alpha subunit 5), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic | AATGGGTACATTGAATAGATGGTTTGTTGATAAGTACATAGATGGATGGGTAAGTGAGTGCATGGGGGGGGTAGGTGAAATAAATGAGTGAGTAGTTAGATGGAAAGGTGGGTAAATGAATAGATGGATGGACGGATGGGTAGATGGATTGATAGAAGGGTAAGTAAATGGATAATTGGATGGGTGGGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGGCCCTTGGCCAACTTACCACAAGGTTGCCAATGACCATAACAAGCAAGAAGACCAGCAGGCATAATGACTGCCCCGACACCTCCATGCAGTCCCACATG... | AATGGGTACATTGAATAGATGGTTTGTTGATAAGTACATAGATGGATGGGTAAGTGAGTGCATGGGGGGGGTAGGTGAAATAAATGAGTGAGTAGTTAGATGGAAAGGTGGGTAAATGAATAGATGGATGGACGGATGGGTAGATGGATTGATAGAAGGGTAAGTAAATGGATAATTGGATGGGTGGGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGGCCCTTGGCCAACTTACCACAAGGTTGCCAATGACCATAACAAGCAAGAAGACCAGCAGGCATAATGACTGCCCCGACACCTCCATGCAGTCCCACATG... | pathogenic | 66,003 |
Evaluate this variant at chromosome 3, position 38587561, gene SCN5A (sodium voltage-gated channel alpha subunit 5): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiovascular_phenotype'] | CATGGGGGGGGTAGGTGAAATAAATGAGTGAGTAGTTAGATGGAAAGGTGGGTAAATGAATAGATGGATGGACGGATGGGTAGATGGATTGATAGAAGGGTAAGTAAATGGATAATTGGATGGGTGGGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGGCCCTTGGCCAACTTACCACAAGGTTGCCAATGACCATAACAAGCAAGAAGACCAGCAGGCATAATGACTGCCCCGACACCTCCATGCAGTCCCACATGGTCTCGATCCACTCTCCACAGAGGATGCGGAAGATGATGAGGAAGGCATGAAAGAAGTCC... | CATGGGGGGGGTAGGTGAAATAAATGAGTGAGTAGTTAGATGGAAAGGTGGGTAAATGAATAGATGGATGGACGGATGGGTAGATGGATTGATAGAAGGGTAAGTAAATGGATAATTGGATGGGTGGGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGGCCCTTGGCCAACTTACCACAAGGTTGCCAATGACCATAACAAGCAAGAAGACCAGCAGGCATAATGACTGCCCCGACACCTCCATGCAGTCCCACATGGTCTCGATCCACTCTCCACAGAGGATGCGGAAGATGATGAGGAAGGCATGAAAGAAGTCC... | pathogenic | 66,008 |
Does the genetic variant at chromosome 3, position 38597887, impacting gene SCN5A (sodium voltage-gated channel alpha subunit 5), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic | GTTTCCTGTATTTTAAATTGTTTATTAATAGGAGACTTTTCAGATTTTCTTGTCCATAATGTTGCTGGAAACAGAAGTTTCATTTGCCTTTTACTTTTATTTGTGTGATGGGCTAAAAAGTTAGCTAAATCTATCAGTCTTCTCCTTTGTGGAATTTGTCTTCAGAGACATGCTTAGAAAGGCTTTTCCCATGCTGATTATTTACTCATGCTTATTTTTATGGTTTTGTTTCTTAACACTTAATATTTAAACTACCTAGAATATATTAAATGCAATAAAATCAAAACCTTACATATTAGTAATAAAGCTATTCAAACAGA... | GTTTCCTGTATTTTAAATTGTTTATTAATAGGAGACTTTTCAGATTTTCTTGTCCATAATGTTGCTGGAAACAGAAGTTTCATTTGCCTTTTACTTTTATTTGTGTGATGGGCTAAAAAGTTAGCTAAATCTATCAGTCTTCTCCTTTGTGGAATTTGTCTTCAGAGACATGCTTAGAAAGGCTTTTCCCATGCTGATTATTTACTCATGCTTATTTTTATGGTTTTGTTTCTTAACACTTAATATTTAAACTACCTAGAATATATTAAATGCAATAAAATCAAAACCTTACATATTAGTAATAAAGCTATTCAAACAGA... | pathogenic | 66,029 |
Is chromosome 3, position 38599004, gene SCN5A (sodium voltage-gated channel alpha subunit 5) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Brugada_syndrome', 'Brugada_syndrome_1', 'Cardiac_arrest', 'Cardiovascular_phenotype', 'Sinoatrial_node_disorder'] | TCTGACTTCCAGGAGCAGTCTAACAACAACAACAATAGCACAGCTATCATTTGTTTTGAGTGCTTACTGTTTATCAATCTATGAGCCAAGCATATTATACACATTATCTTATACAGTCCTCATTACCTTCCTATGAGGTTGATATTGTCATACTAATTTCACATTTATTGAATTCAACAAATATTTATTGGGCCAATTACTGAGTAAACTGCTTGAGATCAGCTAGTTAGTAAGAGCTGAGTCAGAATTCAAATCTGGCTCTGCCTGATTTACTTACTACACCCAGCTATCCATCCATCTGTCCATCCATCCATCCATCC... | TCTGACTTCCAGGAGCAGTCTAACAACAACAACAATAGCACAGCTATCATTTGTTTTGAGTGCTTACTGTTTATCAATCTATGAGCCAAGCATATTATACACATTATCTTATACAGTCCTCATTACCTTCCTATGAGGTTGATATTGTCATACTAATTTCACATTTATTGAATTCAACAAATATTTATTGGGCCAATTACTGAGTAAACTGCTTGAGATCAGCTAGTTAGTAAGAGCTGAGTCAGAATTCAAATCTGGCTCTGCCTGATTTACTTACTACACCCAGCTATCCATCCATCTGTCCATCCATCCATCCATCC... | pathogenic | 66,038 |
Variant in gene SCN5A (sodium voltage-gated channel alpha subunit 5), located at chromosome 3 position 38599043: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype'] | ACAGCTATCATTTGTTTTGAGTGCTTACTGTTTATCAATCTATGAGCCAAGCATATTATACACATTATCTTATACAGTCCTCATTACCTTCCTATGAGGTTGATATTGTCATACTAATTTCACATTTATTGAATTCAACAAATATTTATTGGGCCAATTACTGAGTAAACTGCTTGAGATCAGCTAGTTAGTAAGAGCTGAGTCAGAATTCAAATCTGGCTCTGCCTGATTTACTTACTACACCCAGCTATCCATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCCTCCATCCTTCCCTCCTTC... | ACAGCTATCATTTGTTTTGAGTGCTTACTGTTTATCAATCTATGAGCCAAGCATATTATACACATTATCTTATACAGTCCTCATTACCTTCCTATGAGGTTGATATTGTCATACTAATTTCACATTTATTGAATTCAACAAATATTTATTGGGCCAATTACTGAGTAAACTGCTTGAGATCAGCTAGTTAGTAAGAGCTGAGTCAGAATTCAAATCTGGCTCTGCCTGATTTACTTACTACACCCAGCTATCCATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCCTCCATCCTTCCCTCCTTC... | pathogenic | 66,046 |
Gene mutation in SCN5A (sodium voltage-gated channel alpha subunit 5) at chromosome 3, position 38603785—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic | CTTCTCCCACCTCCATCTGGACTTTTGGAACCAGGCAGTCTCATACAAGCAAGGGGCAAAGTAAGTCTTCAGCCCCTACCTCCCAATCTGGATAAACTGAACGTGAGCTGTCTGCTGGGCTGGCCCTTCCTTCCCATCCTTGTTGATTAGGCACCCACAGTGTGCCCAACCCTGTGCTTTGTTTTCAGACTAGAACTGGGCAGAAACGTCTCACTGGGGACCCAGTGGAAGCACAGAAGGCATTCCCAGGGGCCTGCAGCCTGCTAATCTCTTTGACTCTTCAAATGTCTCCATCTTGGTTTGCTAATTCCTTTAACTTT... | CTTCTCCCACCTCCATCTGGACTTTTGGAACCAGGCAGTCTCATACAAGCAAGGGGCAAAGTAAGTCTTCAGCCCCTACCTCCCAATCTGGATAAACTGAACGTGAGCTGTCTGCTGGGCTGGCCCTTCCTTCCCATCCTTGTTGATTAGGCACCCACAGTGTGCCCAACCCTGTGCTTTGTTTTCAGACTAGAACTGGGCAGAAACGTCTCACTGGGGACCCAGTGGAAGCACAGAAGGCATTCCCAGGGGCCTGCAGCCTGCTAATCTCTTTGACTCTTCAAATGTCTCCATCTTGGTTTGCTAATTCCTTTAACTTT... | pathogenic | 66,060 |
Gene SCN5A (sodium voltage-gated channel alpha subunit 5) variant at chromosome 3, position 38603848—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic | AGTCTTCAGCCCCTACCTCCCAATCTGGATAAACTGAACGTGAGCTGTCTGCTGGGCTGGCCCTTCCTTCCCATCCTTGTTGATTAGGCACCCACAGTGTGCCCAACCCTGTGCTTTGTTTTCAGACTAGAACTGGGCAGAAACGTCTCACTGGGGACCCAGTGGAAGCACAGAAGGCATTCCCAGGGGCCTGCAGCCTGCTAATCTCTTTGACTCTTCAAATGTCTCCATCTTGGTTTGCTAATTCCTTTAACTTTGCAAATGACCCTGTCTTGGCCTGCTAATCCCTTTAAGGTTACAAATGGGCCCCACAGAAGTGA... | AGTCTTCAGCCCCTACCTCCCAATCTGGATAAACTGAACGTGAGCTGTCTGCTGGGCTGGCCCTTCCTTCCCATCCTTGTTGATTAGGCACCCACAGTGTGCCCAACCCTGTGCTTTGTTTTCAGACTAGAACTGGGCAGAAACGTCTCACTGGGGACCCAGTGGAAGCACAGAAGGCATTCCCAGGGGCCTGCAGCCTGCTAATCTCTTTGACTCTTCAAATGTCTCCATCTTGGTTTGCTAATTCCTTTAACTTTGCAAATGACCCTGTCTTGGCCTGCTAATCCCTTTAAGGTTACAAATGGGCCCCACAGAAGTGA... | pathogenic | 66,064 |
Considering the genetic mutation at chromosome 3, position 38604761, impacting SCN5A (sodium voltage-gated channel alpha subunit 5): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Brugada_syndrome', 'Cardiac_arrhythmia'] | GCCATCCTCCACCTTCCTGGTCAAGCCTCCCATCTGTTCTACCTTCCTCTCCAAGTGCGCTCTGCAGGCCTTGGGGGTTGAGCCAGATGTTCAGCTTTTTCCTGGGTGGGCTGCTCTGGTCACTGTGTTGGGGGCCTGGGGTCAGCAAGGACACCTGATGGCTGATTGGGCAGCCATCAGTCTGTCATAGAACTGACTAAGTGACCAAAGCTCTGATTGGCCTTTCACAATCTGGCCAGTCCCTTCCTATCACCTTTGTAACAGTCACTGCAACTTCTCTCCCCGTCGCTCCCTCTGTTCCAGCCACACTGACCTCGTGG... | GCCATCCTCCACCTTCCTGGTCAAGCCTCCCATCTGTTCTACCTTCCTCTCCAAGTGCGCTCTGCAGGCCTTGGGGGTTGAGCCAGATGTTCAGCTTTTTCCTGGGTGGGCTGCTCTGGTCACTGTGTTGGGGGCCTGGGGTCAGCAAGGACACCTGATGGCTGATTGGGCAGCCATCAGTCTGTCATAGAACTGACTAAGTGACCAAAGCTCTGATTGGCCTTTCACAATCTGGCCAGTCCCTTCCTATCACCTTTGTAACAGTCACTGCAACTTCTCTCCCCGTCGCTCCCTCTGTTCCAGCCACACTGACCTCGTGG... | pathogenic | 66,099 |
Variant on chromosome 3, at position 38604815, affecting SCN5A (sodium voltage-gated channel alpha subunit 5): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Brugada_syndrome'] | GTGCGCTCTGCAGGCCTTGGGGGTTGAGCCAGATGTTCAGCTTTTTCCTGGGTGGGCTGCTCTGGTCACTGTGTTGGGGGCCTGGGGTCAGCAAGGACACCTGATGGCTGATTGGGCAGCCATCAGTCTGTCATAGAACTGACTAAGTGACCAAAGCTCTGATTGGCCTTTCACAATCTGGCCAGTCCCTTCCTATCACCTTTGTAACAGTCACTGCAACTTCTCTCCCCGTCGCTCCCTCTGTTCCAGCCACACTGACCTCGTGGCATCTCCTCCAACAGGCTAGGCAGAGTTCTGCCTCAGGGCCTTCACATTTGCTG... | GTGCGCTCTGCAGGCCTTGGGGGTTGAGCCAGATGTTCAGCTTTTTCCTGGGTGGGCTGCTCTGGTCACTGTGTTGGGGGCCTGGGGTCAGCAAGGACACCTGATGGCTGATTGGGCAGCCATCAGTCTGTCATAGAACTGACTAAGTGACCAAAGCTCTGATTGGCCTTTCACAATCTGGCCAGTCCCTTCCTATCACCTTTGTAACAGTCACTGCAACTTCTCTCCCCGTCGCTCCCTCTGTTCCAGCCACACTGACCTCGTGGCATCTCCTCCAACAGGCTAGGCAGAGTTCTGCCTCAGGGCCTTCACATTTGCTG... | pathogenic | 66,103 |
Benign or pathogenic: chromosome 3, position 38606824, gene SCN5A (sodium voltage-gated channel alpha subunit 5) variant? Disease(s) if pathogenic? | benign | CCCCACACTCCTCAGTTCCTGAAGACATCCGTTTTCTCCTCTTGCTTCTTCTCTCATGGCTGTTTACTGGGGCCAAAGGGGACATCTCCAAGGAGCTACGGGACACGGTATCCACACCCCTGATGGTGAGGGCCTGGAAAAGAGTGGAGGAACGGACGTTTCCATCATTGAGACTTTGTGCAGCCTCAGGCTCAGGCAGGCCAGGCAACTCTCAGTGACTTGGTTTTCCCTATCAGTAAGTGGACTTGCACACCTACCCCAAAATGAGGACATCATGGAGATAAACTCAGACAGACCCAGAATGTTTTGGGAAAGATCAA... | CCCCACACTCCTCAGTTCCTGAAGACATCCGTTTTCTCCTCTTGCTTCTTCTCTCATGGCTGTTTACTGGGGCCAAAGGGGACATCTCCAAGGAGCTACGGGACACGGTATCCACACCCCTGATGGTGAGGGCCTGGAAAAGAGTGGAGGAACGGACGTTTCCATCATTGAGACTTTGTGCAGCCTCAGGCTCAGGCAGGCCAGGCAACTCTCAGTGACTTGGTTTTCCCTATCAGTAAGTGGACTTGCACACCTACCCCAAAATGAGGACATCATGGAGATAAACTCAGACAGACCCAGAATGTTTTGGGAAAGATCAA... | benign | 66,170 |
Mutation at chromosome 3, position 38609766, within SCN5A (sodium voltage-gated channel alpha subunit 5): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Brugada_syndrome'] | ACTGGGCATCTCAAGGAAAGTCCAGGCTGCTGGAGAAACCACATTTGCTCCAAGGGACAGATCAGCAGCAACGGAGGGAAGACTGGAGCTGGAGGGAGCAGTTCTGGGGAGCTTCTGGAAGGGAATGGAGCTGGGGGTGGGCTGGTTGGGGGGCTGTAGAAGGCATCCCAGGCTATCCCTCAGTCCCAGCCCACCTTCAGGGCTCCGTTAGCTCTCCCTGCAGCTCTGTCCCTGACCTTTCTCCAGAAGCTGTCTCCTCTGTGCTGGGGGCAAGGTGGGGAAGCTGGGGAAGGGTCCTGGCAGGTAAGGGAGACAAAAGA... | ACTGGGCATCTCAAGGAAAGTCCAGGCTGCTGGAGAAACCACATTTGCTCCAAGGGACAGATCAGCAGCAACGGAGGGAAGACTGGAGCTGGAGGGAGCAGTTCTGGGGAGCTTCTGGAAGGGAATGGAGCTGGGGGTGGGCTGGTTGGGGGGCTGTAGAAGGCATCCCAGGCTATCCCTCAGTCCCAGCCCACCTTCAGGGCTCCGTTAGCTCTCCCTGCAGCTCTGTCCCTGACCTTTCTCCAGAAGCTGTCTCCTCTGTGCTGGGGGCAAGGTGGGGAAGCTGGGGAAGGGTCCTGGCAGGTAAGGGAGACAAAAGA... | pathogenic | 66,184 |
Considering the genetic mutation at chromosome 3, position 38620877, impacting SCN5A (sodium voltage-gated channel alpha subunit 5): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype'] | ACATCCCAAACTGGACTTTTGATTTTCTTCCTACTTCAGCCAGTGTCGCTCTCTCCAATTTTCCATTTCAACCAATGGGAACACCGTCCACCTAGCAGCTGCTCAAACCAAAAACCACCTTGGGGGGCCTCCTGTCAGCCCTACCTGCAAAGTATGTCCAGAATCTGACCAGGTGCTCCCCTTCTCCACTTGGTCCTTGGTTCCAGTCACTATCTTCTGTCTCCTGGCTTCCAAGATATAGCCTCCTAACTACTCCGTCTGTCTCTACCTTCTCCAGTCTGTGGTCCACACCATAGCCAGGGGAGTCTCTACAGAATGTA... | ACATCCCAAACTGGACTTTTGATTTTCTTCCTACTTCAGCCAGTGTCGCTCTCTCCAATTTTCCATTTCAACCAATGGGAACACCGTCCACCTAGCAGCTGCTCAAACCAAAAACCACCTTGGGGGGCCTCCTGTCAGCCCTACCTGCAAAGTATGTCCAGAATCTGACCAGGTGCTCCCCTTCTCCACTTGGTCCTTGGTTCCAGTCACTATCTTCTGTCTCCTGGCTTCCAAGATATAGCCTCCTAACTACTCCGTCTGTCTCTACCTTCTCCAGTCTGTGGTCCACACCATAGCCAGGGGAGTCTCTACAGAATGTA... | pathogenic | 66,236 |
Gene SCN5A (sodium voltage-gated channel alpha subunit 5) variant at chromosome position 38633052 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Brugada_syndrome'] | TCATGAACAGTGCAATGCAACCCCTCCCTGAGCTTCTGGAAGATCCTTTCTACACAGCACAATGGGGCACAGGAGCGGACAATGAGAGCCAAATGCTGAGACACATGCACATCAGGTGCCCAAGCAGCCCTTGAGGACAGCAGTGCCTCCCCACCTGCCCCGGTGTGTGGTGGTCACAGCTCTGTGGCCTCACGGAGGTCTAGGGGAATGTCACAACCTGACATTCCCCTGAGACCTCCCTCACCTCCACCCATGGGCAAGGCAGTGAGTCCACTATTCTGCCGAATGAGCTGGTGGGACAAGGTTCTACCCAATCTGGT... | TCATGAACAGTGCAATGCAACCCCTCCCTGAGCTTCTGGAAGATCCTTTCTACACAGCACAATGGGGCACAGGAGCGGACAATGAGAGCCAAATGCTGAGACACATGCACATCAGGTGCCCAAGCAGCCCTTGAGGACAGCAGTGCCTCCCCACCTGCCCCGGTGTGTGGTGGTCACAGCTCTGTGGCCTCACGGAGGTCTAGGGGAATGTCACAACCTGACATTCCCCTGAGACCTCCCTCACCTCCACCCATGGGCAAGGCAGTGAGTCCACTATTCTGCCGAATGAGCTGGTGGGACAAGGTTCTACCCAATCTGGT... | pathogenic | 66,289 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 38633118, gene SCN5A (sodium voltage-gated channel alpha subunit 5). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiac_arrhythmia'] | GCACAGGAGCGGACAATGAGAGCCAAATGCTGAGACACATGCACATCAGGTGCCCAAGCAGCCCTTGAGGACAGCAGTGCCTCCCCACCTGCCCCGGTGTGTGGTGGTCACAGCTCTGTGGCCTCACGGAGGTCTAGGGGAATGTCACAACCTGACATTCCCCTGAGACCTCCCTCACCTCCACCCATGGGCAAGGCAGTGAGTCCACTATTCTGCCGAATGAGCTGGTGGGACAAGGTTCTACCCAATCTGGTCTGGGGAGACAAGCTGACCAGATAGATTAGGACCAAAAGTTCTGTTGTGGTGCCTCCATTGCCTTG... | GCACAGGAGCGGACAATGAGAGCCAAATGCTGAGACACATGCACATCAGGTGCCCAAGCAGCCCTTGAGGACAGCAGTGCCTCCCCACCTGCCCCGGTGTGTGGTGGTCACAGCTCTGTGGCCTCACGGAGGTCTAGGGGAATGTCACAACCTGACATTCCCCTGAGACCTCCCTCACCTCCACCCATGGGCAAGGCAGTGAGTCCACTATTCTGCCGAATGAGCTGGTGGGACAAGGTTCTACCCAATCTGGTCTGGGGAGACAAGCTGACCAGATAGATTAGGACCAAAAGTTCTGTTGTGGTGCCTCCATTGCCTTG... | pathogenic | 66,299 |
Mutation found at chromosome 3 position 38633204, gene SCN5A (sodium voltage-gated channel alpha subunit 5): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic | ACCTGCCCCGGTGTGTGGTGGTCACAGCTCTGTGGCCTCACGGAGGTCTAGGGGAATGTCACAACCTGACATTCCCCTGAGACCTCCCTCACCTCCACCCATGGGCAAGGCAGTGAGTCCACTATTCTGCCGAATGAGCTGGTGGGACAAGGTTCTACCCAATCTGGTCTGGGGAGACAAGCTGACCAGATAGATTAGGACCAAAAGTTCTGTTGTGGTGCCTCCATTGCCTTGTGGGGCTGCAGGCAGCGTGGCCAGGGATCAACAAGTGGAAACAGAAAGTGAGAGGCCGGAATCATCCCTGGAGCTGCTGTTCAAGC... | ACCTGCCCCGGTGTGTGGTGGTCACAGCTCTGTGGCCTCACGGAGGTCTAGGGGAATGTCACAACCTGACATTCCCCTGAGACCTCCCTCACCTCCACCCATGGGCAAGGCAGTGAGTCCACTATTCTGCCGAATGAGCTGGTGGGACAAGGTTCTACCCAATCTGGTCTGGGGAGACAAGCTGACCAGATAGATTAGGACCAAAAGTTCTGTTGTGGTGCCTCCATTGCCTTGTGGGGCTGCAGGCAGCGTGGCCAGGGATCAACAAGTGGAAACAGAAAGTGAGAGGCCGGAATCATCCCTGGAGCTGCTGTTCAAGC... | pathogenic | 66,311 |
Variant in gene SCN5A (sodium voltage-gated channel alpha subunit 5), located at chromosome 3 position 38633267: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype'] | ACCTGACATTCCCCTGAGACCTCCCTCACCTCCACCCATGGGCAAGGCAGTGAGTCCACTATTCTGCCGAATGAGCTGGTGGGACAAGGTTCTACCCAATCTGGTCTGGGGAGACAAGCTGACCAGATAGATTAGGACCAAAAGTTCTGTTGTGGTGCCTCCATTGCCTTGTGGGGCTGCAGGCAGCGTGGCCAGGGATCAACAAGTGGAAACAGAAAGTGAGAGGCCGGAATCATCCCTGGAGCTGCTGTTCAAGCATTCCCAGACCCAAGGACAGAAGAGATGGTGTCCCTGATCTCTCACAGGCTCAGCTGCCACCA... | ACCTGACATTCCCCTGAGACCTCCCTCACCTCCACCCATGGGCAAGGCAGTGAGTCCACTATTCTGCCGAATGAGCTGGTGGGACAAGGTTCTACCCAATCTGGTCTGGGGAGACAAGCTGACCAGATAGATTAGGACCAAAAGTTCTGTTGTGGTGCCTCCATTGCCTTGTGGGGCTGCAGGCAGCGTGGCCAGGGATCAACAAGTGGAAACAGAAAGTGAGAGGCCGGAATCATCCCTGGAGCTGCTGTTCAAGCATTCCCAGACCCAAGGACAGAAGAGATGGTGTCCCTGATCTCTCACAGGCTCAGCTGCCACCA... | pathogenic | 66,319 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 38756712, gene SCN10A (sodium voltage-gated channel alpha subunit 10): what disease(s) if pathogenic? | benign | GAAAGAGGAGGGCACAGATGCAGATAAATGCTGAAGTGTGGATGTGTCATGAGGTCAGTGTGCATGCAAGTGTGTCTGTGTTTGTATATGCACACATAAATCTGAGGGTTGGAGAGATGGTATTGCAAAAAAGTAAAATATCCTTCGGCTTAGCACAGGAAAAGAGATTGAGAGGGAAGTGAGAGGTATAAAGCATAAAAAAATAGCCATGTTGATCCCCTTTTCCACACTGTTAGTGTGGAGCCACCCTCCCACACAGCAGATATTATCTGTCAGACCTATAGAAAGGGCATATTTGGGGTAAAAGGACTTTCAAGGGG... | GAAAGAGGAGGGCACAGATGCAGATAAATGCTGAAGTGTGGATGTGTCATGAGGTCAGTGTGCATGCAAGTGTGTCTGTGTTTGTATATGCACACATAAATCTGAGGGTTGGAGAGATGGTATTGCAAAAAAGTAAAATATCCTTCGGCTTAGCACAGGAAAAGAGATTGAGAGGGAAGTGAGAGGTATAAAGCATAAAAAAATAGCCATGTTGATCCCCTTTTCCACACTGTTAGTGTGGAGCCACCCTCCCACACAGCAGATATTATCTGTCAGACCTATAGAAAGGGCATATTTGGGGTAAAAGGACTTTCAAGGGG... | benign | 66,584 |
A genetic variant on chromosome 3, position 38771268, affects the gene SCN10A (sodium voltage-gated channel alpha subunit 10). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | ATAATCAGCCTTCTGAATTCTTTTTTTTTTTTTTTTGAGATGGATTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACCGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACATCTAGCTAATTTTGTATTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCTTCAGGCTGGTCTTGAACTTCTGACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCTACTGTGCCCAGC... | ATAATCAGCCTTCTGAATTCTTTTTTTTTTTTTTTTGAGATGGATTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACCGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACATCTAGCTAATTTTGTATTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCTTCAGGCTGGTCTTGAACTTCTGACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCTACTGTGCCCAGC... | benign | 66,624 |
Evaluate the clinical significance of the mutation at chromosome 3, position 38896808 in gene SCN11A (sodium voltage-gated channel alpha subunit 11): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | CCACCTCTTTTTGCTGTGGTAAGTTTTGCTTCCTGCACCACTTGTGACAGAAATGCTCAAGAGTGTGTCTCACAAAACAAAAAGCCCGGCGGAATCGATCCAGTGCTAACTGGACTTTAGTTTTCCTGGCCTCTCCTTCTAAGTTTCCATTTCTTTCCTCATTGCTAAAGGAATTGAGCAGTAAGGCAATGAAGAGGTTGAGCACCTGGGAATGGGGTGGGTAGCAAGAAGAAAGGAAAGTTTAGCAAAGGAAAAGATATAGTGGGTTTCCAGGACAACTTTTCCCCAAGACTAAAAACAGAATCAAATTAGAGTTTTAT... | CCACCTCTTTTTGCTGTGGTAAGTTTTGCTTCCTGCACCACTTGTGACAGAAATGCTCAAGAGTGTGTCTCACAAAACAAAAAGCCCGGCGGAATCGATCCAGTGCTAACTGGACTTTAGTTTTCCTGGCCTCTCCTTCTAAGTTTCCATTTCTTTCCTCATTGCTAAAGGAATTGAGCAGTAAGGCAATGAAGAGGTTGAGCACCTGGGAATGGGGTGGGTAGCAAGAAGAAAGGAAAGTTTAGCAAAGGAAAAGATATAGTGGGTTTCCAGGACAACTTTTCCCCAAGACTAAAAACAGAATCAAATTAGAGTTTTAT... | benign | 66,723 |
Variant chromosome 3, position 38946916, gene SCN11A (sodium voltage-gated channel alpha subunit 11): benign or pathogenic? Disease(s)? | benign | GAAGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACCCTGTCTCAAAAAATAAAAAAAAATAAAAAAAGAATAGCTTTATTTTTGGCATAGTGAACTCCCATAACAATTTTTTACAAACAAAAACAAAGAATAAGTAAATACATAAATACAGCTTTATGCAAAAAGATTTTTATGACAATGTTACAATCTACTAAAATGCTAGAGTGGTGAAGTACATTATGGTTTATTCACCTGATAAAATATTATATAACCATCAAAATGGATACC... | GAAGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACCCTGTCTCAAAAAATAAAAAAAAATAAAAAAAGAATAGCTTTATTTTTGGCATAGTGAACTCCCATAACAATTTTTTACAAACAAAAACAAAGAATAAGTAAATACATAAATACAGCTTTATGCAAAAAGATTTTTATGACAATGTTACAATCTACTAAAATGCTAGAGTGGTGAAGTACATTATGGTTTATTCACCTGATAAAATATTATATAACCATCAAAATGGATACC... | benign | 66,778 |
Is the genetic change at chromosome 3, position 41225126, within gene CTNNB1 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | AAAAAACAAAACATAGTTCACACTTAAATATTTTATTCCATATCTTTACATACCCAATATGTTAATTTATAGTTCAAGATGAACTTGTTTGGGACAGATTTTGTAATAAAGGAAATCGTGTTATTAGAAATATCTAGAGGCCATGAGCCCTTAAACTGTTCTAATTTGCAAGTAGTTCCCTGTGTGATGCAGTTTTTTTCAATATTGCACAATAAAGGCAAAATACGGACAAATTAGATGATAAGATTTATATAAATTTTTAAAATATTGATCAAAATATGTATCCATATTGGTAATATTTGTATTTATAATAAATCATT... | AAAAAACAAAACATAGTTCACACTTAAATATTTTATTCCATATCTTTACATACCCAATATGTTAATTTATAGTTCAAGATGAACTTGTTTGGGACAGATTTTGTAATAAAGGAAATCGTGTTATTAGAAATATCTAGAGGCCATGAGCCCTTAAACTGTTCTAATTTGCAAGTAGTTCCCTGTGTGATGCAGTTTTTTTCAATATTGCACAATAAAGGCAAAATACGGACAAATTAGATGATAAGATTTATATAAATTTTTAAAATATTGATCAAAATATGTATCCATATTGGTAATATTTGTATTTATAATAAATCATT... | pathogenic | 66,871 |
The mutation impacting CTNNB1 on chromosome 3 at position 41225531: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Severe_intellectual_disability-progressive_spastic_diplegia_syndrome'] | ACCAAAAAATCTAAAATTCGCTATTCTAGTCACCAAAATTTGCTTTATGAAAAATAATTTTTGATGGCACTATATCAGAAAACAACTTGTTAAAGAAAATGTGGAGTTTTTAAAATCCCACTGTACCTCTGTTATCCAAAGGGGATCTGTGAATTTTTCTGTGAAAGGTTAAAAAAGGAGAGACCTTTAGGAATTCAGAGAGCAGCTGATTTTTGAATAGTGTTTTCCCCTCCCTGGCTTTTATTATTACAACTCTGTGCTTTTTCATCACCATCCTGAATATCTATAATTAATATTTATACTATTAATAAAAAGACATT... | ACCAAAAAATCTAAAATTCGCTATTCTAGTCACCAAAATTTGCTTTATGAAAAATAATTTTTGATGGCACTATATCAGAAAACAACTTGTTAAAGAAAATGTGGAGTTTTTAAAATCCCACTGTACCTCTGTTATCCAAAGGGGATCTGTGAATTTTTCTGTGAAAGGTTAAAAAAGGAGAGACCTTTAGGAATTCAGAGAGCAGCTGATTTTTGAATAGTGTTTTCCCCTCCCTGGCTTTTATTATTACAACTCTGTGCTTTTTCATCACCATCCTGAATATCTATAATTAATATTTATACTATTAATAAAAAGACATT... | pathogenic | 66,880 |
Benign or pathogenic: chromosome 3, position 41225646, gene CTNNB1 (catenin beta 1) variant? Disease(s) if pathogenic? | benign | TCCCACTGTACCTCTGTTATCCAAAGGGGATCTGTGAATTTTTCTGTGAAAGGTTAAAAAAGGAGAGACCTTTAGGAATTCAGAGAGCAGCTGATTTTTGAATAGTGTTTTCCCCTCCCTGGCTTTTATTATTACAACTCTGTGCTTTTTCATCACCATCCTGAATATCTATAATTAATATTTATACTATTAATAAAAAGACATTTTTGGTAAGGAGGAGTTTTCACTGAAGTTCAGCAGTGATGGAGCTGTGGTTGAGGTGTCTGGAGGAGACCATGAGGTCTGCGTTTCACTAACCTGGTAAAAGAGGATATGGGTTT... | TCCCACTGTACCTCTGTTATCCAAAGGGGATCTGTGAATTTTTCTGTGAAAGGTTAAAAAAGGAGAGACCTTTAGGAATTCAGAGAGCAGCTGATTTTTGAATAGTGTTTTCCCCTCCCTGGCTTTTATTATTACAACTCTGTGCTTTTTCATCACCATCCTGAATATCTATAATTAATATTTATACTATTAATAAAAAGACATTTTTGGTAAGGAGGAGTTTTCACTGAAGTTCAGCAGTGATGGAGCTGTGGTTGAGGTGTCTGGAGGAGACCATGAGGTCTGCGTTTCACTAACCTGGTAAAAGAGGATATGGGTTT... | benign | 66,881 |
Assess the variant on chromosome 3, position 41225731, impacting CTNNB1 (catenin beta 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Severe_intellectual_disability-progressive_spastic_diplegia_syndrome'] | AGCAGCTGATTTTTGAATAGTGTTTTCCCCTCCCTGGCTTTTATTATTACAACTCTGTGCTTTTTCATCACCATCCTGAATATCTATAATTAATATTTATACTATTAATAAAAAGACATTTTTGGTAAGGAGGAGTTTTCACTGAAGTTCAGCAGTGATGGAGCTGTGGTTGAGGTGTCTGGAGGAGACCATGAGGTCTGCGTTTCACTAACCTGGTAAAAGAGGATATGGGTTTTTTTTGTGGGTGTAATAGTGACATTTAACAGGTATCCCAGTGACTTAGGAGTATTAATCAAGCTAAATTTAAATCCTAATGACTT... | AGCAGCTGATTTTTGAATAGTGTTTTCCCCTCCCTGGCTTTTATTATTACAACTCTGTGCTTTTTCATCACCATCCTGAATATCTATAATTAATATTTATACTATTAATAAAAAGACATTTTTGGTAAGGAGGAGTTTTCACTGAAGTTCAGCAGTGATGGAGCTGTGGTTGAGGTGTCTGGAGGAGACCATGAGGTCTGCGTTTCACTAACCTGGTAAAAGAGGATATGGGTTTTTTTTGTGGGTGTAATAGTGACATTTAACAGGTATCCCAGTGACTTAGGAGTATTAATCAAGCTAAATTTAAATCCTAATGACTT... | pathogenic | 66,882 |
Does the genetic variant at chromosome 3, position 41225783, impacting gene CTNNB1 (catenin beta 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['CTNNB1-related_disorder', 'Severe_intellectual_disability-progressive_spastic_diplegia_syndrome'] | CTCTGTGCTTTTTCATCACCATCCTGAATATCTATAATTAATATTTATACTATTAATAAAAAGACATTTTTGGTAAGGAGGAGTTTTCACTGAAGTTCAGCAGTGATGGAGCTGTGGTTGAGGTGTCTGGAGGAGACCATGAGGTCTGCGTTTCACTAACCTGGTAAAAGAGGATATGGGTTTTTTTTGTGGGTGTAATAGTGACATTTAACAGGTATCCCAGTGACTTAGGAGTATTAATCAAGCTAAATTTAAATCCTAATGACTTTTGATTAACTTTTTTTAGGGTATTTGAAGTATACCATACAACTGTTTTGAAA... | CTCTGTGCTTTTTCATCACCATCCTGAATATCTATAATTAATATTTATACTATTAATAAAAAGACATTTTTGGTAAGGAGGAGTTTTCACTGAAGTTCAGCAGTGATGGAGCTGTGGTTGAGGTGTCTGGAGGAGACCATGAGGTCTGCGTTTCACTAACCTGGTAAAAGAGGATATGGGTTTTTTTTGTGGGTGTAATAGTGACATTTAACAGGTATCCCAGTGACTTAGGAGTATTAATCAAGCTAAATTTAAATCCTAATGACTTTTGATTAACTTTTTTTAGGGTATTTGAAGTATACCATACAACTGTTTTGAAA... | pathogenic | 66,883 |
Does the variant on chromosome 3 at location 41227180 affecting gene CTNNB1 (catenin beta 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TAACTATCAAGATGATGCAGAACTTGCCACACGTGCAATCCCTGAACTGACAAAACTGCTAAATGACGAGGACCAGGTAAGCAATGACATAGCTAGCTTTTTAGTCTGCTTTGAAGTAAATGCTCAAGGGGAGTAGTTTCAGAATGTCTACCCAATACCAGTACTTGAAAACTAACGATGTTTCTGAATTCCTGTATTACAGGTGGTGGTTAATAAGGCTGCAGTTATGGTCCATCAGCTTTCTAAAAAGGAAGCTTCCAGACACGCTATCATGCGTTCTCCTCAGATGGTGTCTGCTATTGTACGTACCATGCAGAATA... | TAACTATCAAGATGATGCAGAACTTGCCACACGTGCAATCCCTGAACTGACAAAACTGCTAAATGACGAGGACCAGGTAAGCAATGACATAGCTAGCTTTTTAGTCTGCTTTGAAGTAAATGCTCAAGGGGAGTAGTTTCAGAATGTCTACCCAATACCAGTACTTGAAAACTAACGATGTTTCTGAATTCCTGTATTACAGGTGGTGGTTAATAAGGCTGCAGTTATGGTCCATCAGCTTTCTAAAAAGGAAGCTTCCAGACACGCTATCATGCGTTCTCCTCAGATGGTGTCTGCTATTGTACGTACCATGCAGAATA... | benign | 66,886 |
Regarding the variant at chromosome 3 and position 41227268, affecting gene CTNNB1 (catenin beta 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['CTNNB1-related_disorder', 'Severe_intellectual_disability-progressive_spastic_diplegia_syndrome'] | ATAGCTAGCTTTTTAGTCTGCTTTGAAGTAAATGCTCAAGGGGAGTAGTTTCAGAATGTCTACCCAATACCAGTACTTGAAAACTAACGATGTTTCTGAATTCCTGTATTACAGGTGGTGGTTAATAAGGCTGCAGTTATGGTCCATCAGCTTTCTAAAAAGGAAGCTTCCAGACACGCTATCATGCGTTCTCCTCAGATGGTGTCTGCTATTGTACGTACCATGCAGAATACAAATGATGTAGAAACAGCTCGTTGTACCGCTGGGACCTTGCATAACCTTTCCCATCATCGTGAGGGCTTACTGGCCATCTTTAAGTC... | ATAGCTAGCTTTTTAGTCTGCTTTGAAGTAAATGCTCAAGGGGAGTAGTTTCAGAATGTCTACCCAATACCAGTACTTGAAAACTAACGATGTTTCTGAATTCCTGTATTACAGGTGGTGGTTAATAAGGCTGCAGTTATGGTCCATCAGCTTTCTAAAAAGGAAGCTTCCAGACACGCTATCATGCGTTCTCCTCAGATGGTGTCTGCTATTGTACGTACCATGCAGAATACAAATGATGTAGAAACAGCTCGTTGTACCGCTGGGACCTTGCATAACCTTTCCCATCATCGTGAGGGCTTACTGGCCATCTTTAAGTC... | pathogenic | 66,887 |
Gene CTNNB1 (catenin beta 1) variant at chromosome position 41227309 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hepatocellular_carcinoma', 'Severe_intellectual_disability-progressive_spastic_diplegia_syndrome'] | GGAGTAGTTTCAGAATGTCTACCCAATACCAGTACTTGAAAACTAACGATGTTTCTGAATTCCTGTATTACAGGTGGTGGTTAATAAGGCTGCAGTTATGGTCCATCAGCTTTCTAAAAAGGAAGCTTCCAGACACGCTATCATGCGTTCTCCTCAGATGGTGTCTGCTATTGTACGTACCATGCAGAATACAAATGATGTAGAAACAGCTCGTTGTACCGCTGGGACCTTGCATAACCTTTCCCATCATCGTGAGGGCTTACTGGCCATCTTTAAGTCTGGAGGCATTCCTGCCCTGGTGAAAATGCTTGGGTAAGAAA... | GGAGTAGTTTCAGAATGTCTACCCAATACCAGTACTTGAAAACTAACGATGTTTCTGAATTCCTGTATTACAGGTGGTGGTTAATAAGGCTGCAGTTATGGTCCATCAGCTTTCTAAAAAGGAAGCTTCCAGACACGCTATCATGCGTTCTCCTCAGATGGTGTCTGCTATTGTACGTACCATGCAGAATACAAATGATGTAGAAACAGCTCGTTGTACCGCTGGGACCTTGCATAACCTTTCCCATCATCGTGAGGGCTTACTGGCCATCTTTAAGTCTGGAGGCATTCCTGCCCTGGTGAAAATGCTTGGGTAAGAAA... | pathogenic | 66,891 |
Does the chromosome 3 mutation at position 41233409 within gene CTNNB1 (catenin beta 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic | CCAGGTGCTGAAGAGAAGGTCTGCATAAACAGAACTTAGTAATGAGGTGGATGGCCTGGTATGAGGTTGAGGTTAGGTAAGCAGAGCCATAACATGCAGGACTTTCTAGGTTCCTATAAGATAGTTACTACTCATGGAGTTTATTCATGCTTTATTCCAGCTTTGGAGCCATAGATACAGAATACTTTGGTCAGTTTGGAAGGCTAGGTGGGATCCAAATTCTAAACGGTTCCTCAGGGTTATACTAAAGTATTTCTATTATCTTAAAAGGATGCTGAGACACTTTCGATGGTTGTTTATCAATAGCAAAGCATCACAGT... | CCAGGTGCTGAAGAGAAGGTCTGCATAAACAGAACTTAGTAATGAGGTGGATGGCCTGGTATGAGGTTGAGGTTAGGTAAGCAGAGCCATAACATGCAGGACTTTCTAGGTTCCTATAAGATAGTTACTACTCATGGAGTTTATTCATGCTTTATTCCAGCTTTGGAGCCATAGATACAGAATACTTTGGTCAGTTTGGAAGGCTAGGTGGGATCCAAATTCTAAACGGTTCCTCAGGGTTATACTAAAGTATTTCTATTATCTTAAAAGGATGCTGAGACACTTTCGATGGTTGTTTATCAATAGCAAAGCATCACAGT... | pathogenic | 66,896 |
Determine whether the variant at chromosome 3, position 41233649, in gene CTNNB1 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Severe_intellectual_disability-progressive_spastic_diplegia_syndrome'] | TATACTAAAGTATTTCTATTATCTTAAAAGGATGCTGAGACACTTTCGATGGTTGTTTATCAATAGCAAAGCATCACAGTGGTGTGTTTAAAATATTAATAATAGCATTGTATAGATTAACAGTTTGAATGACCAAAAGCTAGAAGACCAGACTACTGAGATGTTACAGGCTTTTAGGAATGAAATAGTTTGCTTTTAGAACTCAATAGCAAAGGGCAGATGTCTGAGATGCCTGAAAGAATCATAGAATGTAATAATATAGGAGCTAAGGGAGCAACCAAAAACGGTTTGTGGAGGGGACAACATTGGTACCATGAAGA... | TATACTAAAGTATTTCTATTATCTTAAAAGGATGCTGAGACACTTTCGATGGTTGTTTATCAATAGCAAAGCATCACAGTGGTGTGTTTAAAATATTAATAATAGCATTGTATAGATTAACAGTTTGAATGACCAAAAGCTAGAAGACCAGACTACTGAGATGTTACAGGCTTTTAGGAATGAAATAGTTTGCTTTTAGAACTCAATAGCAAAGGGCAGATGTCTGAGATGCCTGAAAGAATCATAGAATGTAATAATATAGGAGCTAAGGGAGCAACCAAAAACGGTTTGTGGAGGGGACAACATTGGTACCATGAAGA... | pathogenic | 66,902 |
Regarding the variant found on chromosome 3 at position 41233836 in gene CTNNB1: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hepatocellular_carcinoma'] | GTTTGCTTTTAGAACTCAATAGCAAAGGGCAGATGTCTGAGATGCCTGAAAGAATCATAGAATGTAATAATATAGGAGCTAAGGGAGCAACCAAAAACGGTTTGTGGAGGGGACAACATTGGTACCATGAAGATAAATGGAACCCTCAGAAGGCATCCTTAATTTTTGAACATAATAATTTAAGAAGCTGACTTAAAGTGACTTAAAAGGTCAGTAGGTAGCTGGAAATGTATGATACTAGAATGCAAGAGAGGCAGGCTAGAGATTTGGAAGTTTCCCTCTTAGTATATAGGGGTAAGGGCAGCAGGGAAGGGGAGGTA... | GTTTGCTTTTAGAACTCAATAGCAAAGGGCAGATGTCTGAGATGCCTGAAAGAATCATAGAATGTAATAATATAGGAGCTAAGGGAGCAACCAAAAACGGTTTGTGGAGGGGACAACATTGGTACCATGAAGATAAATGGAACCCTCAGAAGGCATCCTTAATTTTTGAACATAATAATTTAAGAAGCTGACTTAAAGTGACTTAAAAGGTCAGTAGGTAGCTGGAAATGTATGATACTAGAATGCAAGAGAGGCAGGCTAGAGATTTGGAAGTTTCCCTCTTAGTATATAGGGGTAAGGGCAGCAGGGAAGGGGAGGTA... | pathogenic | 66,906 |
Determine whether the variant at chromosome 3, position 41236467, in gene CTNNB1 (catenin beta 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Severe_intellectual_disability-progressive_spastic_diplegia_syndrome'] | AAGTAAATAAATAAATAATTACACATTTCTATGGCTGCAGAGAAAATAAGGCATAGTGTGGCCCCAGTGATATTTCCTTGGACACGTCCTTCACATGGTCAGTCTTACAAAGGTTGGGTTAGGTGTTTCATAAAGTGTTCTCATTTAATTTACACAAAGGCCCACTTCCTTAGGAAGAGGTAGAGTCATAATTTGAGATCAAATCTGTGTAATTTCAGAGCCTCTTACCCTTGCCTCATCATGCATTTTGACTATAAATATTTAGCAGTCCGTTTTATTATCTTTTCTGTGAGTTAAACTTTTTTCATGGACCTAAGAAT... | AAGTAAATAAATAAATAATTACACATTTCTATGGCTGCAGAGAAAATAAGGCATAGTGTGGCCCCAGTGATATTTCCTTGGACACGTCCTTCACATGGTCAGTCTTACAAAGGTTGGGTTAGGTGTTTCATAAAGTGTTCTCATTTAATTTACACAAAGGCCCACTTCCTTAGGAAGAGGTAGAGTCATAATTTGAGATCAAATCTGTGTAATTTCAGAGCCTCTTACCCTTGCCTCATCATGCATTTTGACTATAAATATTTAGCAGTCCGTTTTATTATCTTTTCTGTGAGTTAAACTTTTTTCATGGACCTAAGAAT... | pathogenic | 66,920 |
Clinically, how would you classify the variant at chromosome 3, position 41236612, gene CTNNB1 (catenin beta 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Severe_intellectual_disability-progressive_spastic_diplegia_syndrome'] | TAATTTACACAAAGGCCCACTTCCTTAGGAAGAGGTAGAGTCATAATTTGAGATCAAATCTGTGTAATTTCAGAGCCTCTTACCCTTGCCTCATCATGCATTTTGACTATAAATATTTAGCAGTCCGTTTTATTATCTTTTCTGTGAGTTAAACTTTTTTCATGGACCTAAGAATATTCAGAAATAAGTAGTAGCATTTCTGTACTCTTAACCACAAAAATCTCAACCTGAAGCTTTGATACAAAGTTTGTGTCTTAAAAGTAGCTTCATTAAAAGTATAGTCTAATGACATTTCTGATTTCTCAGACTTTAAGACCTTA... | TAATTTACACAAAGGCCCACTTCCTTAGGAAGAGGTAGAGTCATAATTTGAGATCAAATCTGTGTAATTTCAGAGCCTCTTACCCTTGCCTCATCATGCATTTTGACTATAAATATTTAGCAGTCCGTTTTATTATCTTTTCTGTGAGTTAAACTTTTTTCATGGACCTAAGAATATTCAGAAATAAGTAGTAGCATTTCTGTACTCTTAACCACAAAAATCTCAACCTGAAGCTTTGATACAAAGTTTGTGTCTTAAAAGTAGCTTCATTAAAAGTATAGTCTAATGACATTTCTGATTTCTCAGACTTTAAGACCTTA... | pathogenic | 66,923 |
A genetic variant at chromosome 3, position 41238021, affecting gene CTNNB1 (catenin beta 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Severe_intellectual_disability-progressive_spastic_diplegia_syndrome'] | ATTTTTTGGTCAGTAAGAGAAACATTGAGACTTGAGAAGAGGGAGGAGATTTCACATTTCACTTTTATGGGTGCCTAGAGGGGAGAGCTGACCTGGGCTGCCAGAGGCAGGGCATAGACCCCCAACCAATTCTGGGTTTTCCAAATCTTAGATCAGTTAGAGCTGCCTCTGAAGAAAGGGTTTATAGCTAAAAAATATTATGGAAATCCAGTGCTCCAGAGCATTAAACACCCCAAGACATAAAATTCAGAGAATATTATTTACTACAGTGTGAATGCCTCTTGCACTCTGAATTGGGAATGTTTGCACCACAGTGGGGG... | ATTTTTTGGTCAGTAAGAGAAACATTGAGACTTGAGAAGAGGGAGGAGATTTCACATTTCACTTTTATGGGTGCCTAGAGGGGAGAGCTGACCTGGGCTGCCAGAGGCAGGGCATAGACCCCCAACCAATTCTGGGTTTTCCAAATCTTAGATCAGTTAGAGCTGCCTCTGAAGAAAGGGTTTATAGCTAAAAAATATTATGGAAATCCAGTGCTCCAGAGCATTAAACACCCCAAGACATAAAATTCAGAGAATATTATTTACTACAGTGTGAATGCCTCTTGCACTCTGAATTGGGAATGTTTGCACCACAGTGGGGG... | pathogenic | 66,930 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 42691888, gene KLHL40 (kelch like family member 40): what disease(s) if pathogenic? | benign | GCTGAAAGCCTGTAAGTCTGCATTTCTAACGCACCCCCAGGAGATGCTGACGCTGCTGGGCCATGAACCACACTTTGAGTAGCAAGAGTCTAGGAGGTGGGAGAAACAGGGCTTAGCTATTGATTGGATGTGGGGGTGAGAGGGGGAGAAGTACATGCTTCTGAGTGAGGGTGGGAGGCCATTTACTGGATAATCATTGGGATTGGGTAGGGAAAGTGAGGGTCCAGTTAGGACATGTGGACTTGAAGTACCTGGGGGTGTCCAAAAGGACCCCACCCGGGAGAGAGAGGGCTGAGCTGGAGGGAGAGATCTGGGGGTCA... | GCTGAAAGCCTGTAAGTCTGCATTTCTAACGCACCCCCAGGAGATGCTGACGCTGCTGGGCCATGAACCACACTTTGAGTAGCAAGAGTCTAGGAGGTGGGAGAAACAGGGCTTAGCTATTGATTGGATGTGGGGGTGAGAGGGGGAGAAGTACATGCTTCTGAGTGAGGGTGGGAGGCCATTTACTGGATAATCATTGGGATTGGGTAGGGAAAGTGAGGGTCCAGTTAGGACATGTGGACTTGAAGTACCTGGGGGTGTCCAAAAGGACCCCACCCGGGAGAGAGAGGGCTGAGCTGGAGGGAGAGATCTGGGGGTCA... | benign | 67,037 |
Does the genetic variant at chromosome 3, position 43080173, impacting gene POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_8'] | GTTAGGGAGAAAGATATTCTGGATGAAAGGAATGTCATAAAGATCCATGGCGACCATGAAAATGCACCATTCAGATCTCCTGCAGCAGAGAACAAGGGATGGCTCAGCTGCCATGCTGAATCCACCAAGGTACTGATGCTGAGGCCACACTTCCCACTGCGGCTCCCAGGTGACGACTAGCATCGGCGGGTGGGAGGGAATACTTATCTAATGGACACCTTTGGCTCAAAACTCCCCGATCAGCCTGCTGAGAGGTTCTCAGCACTGAGCTACAGCCTGAGGCTCTACCTCCTCTCCCCAGCTTCTCTCCCTCTCCCCCT... | GTTAGGGAGAAAGATATTCTGGATGAAAGGAATGTCATAAAGATCCATGGCGACCATGAAAATGCACCATTCAGATCTCCTGCAGCAGAGAACAAGGGATGGCTCAGCTGCCATGCTGAATCCACCAAGGTACTGATGCTGAGGCCACACTTCCCACTGCGGCTCCCAGGTGACGACTAGCATCGGCGGGTGGGAGGGAATACTTATCTAATGGACACCTTTGGCTCAAAACTCCCCGATCAGCCTGCTGAGAGGTTCTCAGCACTGAGCTACAGCCTGAGGCTCTACCTCCTCTCCCCAGCTTCTCTCCCTCTCCCCCT... | pathogenic | 67,063 |
Gene POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)) variant at chromosome position 43080198 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_8'] | AAAGGAATGTCATAAAGATCCATGGCGACCATGAAAATGCACCATTCAGATCTCCTGCAGCAGAGAACAAGGGATGGCTCAGCTGCCATGCTGAATCCACCAAGGTACTGATGCTGAGGCCACACTTCCCACTGCGGCTCCCAGGTGACGACTAGCATCGGCGGGTGGGAGGGAATACTTATCTAATGGACACCTTTGGCTCAAAACTCCCCGATCAGCCTGCTGAGAGGTTCTCAGCACTGAGCTACAGCCTGAGGCTCTACCTCCTCTCCCCAGCTTCTCTCCCTCTCCCCCTTACAGGAGTCAGACCTGCAGCAGGT... | AAAGGAATGTCATAAAGATCCATGGCGACCATGAAAATGCACCATTCAGATCTCCTGCAGCAGAGAACAAGGGATGGCTCAGCTGCCATGCTGAATCCACCAAGGTACTGATGCTGAGGCCACACTTCCCACTGCGGCTCCCAGGTGACGACTAGCATCGGCGGGTGGGAGGGAATACTTATCTAATGGACACCTTTGGCTCAAAACTCCCCGATCAGCCTGCTGAGAGGTTCTCAGCACTGAGCTACAGCCTGAGGCTCTACCTCCTCTCCCCAGCTTCTCTCCCTCTCCCCCTTACAGGAGTCAGACCTGCAGCAGGT... | pathogenic | 67,064 |
Is the genetic change at chromosome 3, position 43080199, within gene POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_8'] | AAGGAATGTCATAAAGATCCATGGCGACCATGAAAATGCACCATTCAGATCTCCTGCAGCAGAGAACAAGGGATGGCTCAGCTGCCATGCTGAATCCACCAAGGTACTGATGCTGAGGCCACACTTCCCACTGCGGCTCCCAGGTGACGACTAGCATCGGCGGGTGGGAGGGAATACTTATCTAATGGACACCTTTGGCTCAAAACTCCCCGATCAGCCTGCTGAGAGGTTCTCAGCACTGAGCTACAGCCTGAGGCTCTACCTCCTCTCCCCAGCTTCTCTCCCTCTCCCCCTTACAGGAGTCAGACCTGCAGCAGGTC... | AAGGAATGTCATAAAGATCCATGGCGACCATGAAAATGCACCATTCAGATCTCCTGCAGCAGAGAACAAGGGATGGCTCAGCTGCCATGCTGAATCCACCAAGGTACTGATGCTGAGGCCACACTTCCCACTGCGGCTCCCAGGTGACGACTAGCATCGGCGGGTGGGAGGGAATACTTATCTAATGGACACCTTTGGCTCAAAACTCCCCGATCAGCCTGCTGAGAGGTTCTCAGCACTGAGCTACAGCCTGAGGCTCTACCTCCTCTCCCCAGCTTCTCTCCCTCTCCCCCTTACAGGAGTCAGACCTGCAGCAGGTC... | pathogenic | 67,066 |
The mutation in gene ANO10 (anoctamin 10) at chromosome 3, position 43555394—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_10'] | CTCTTGCCACATTTAAAAAGTTCTTAGCCGTTATTTATTCAAGTACTTTTTGGGCCCCTCCCTCTTTCTTCTCTCCTTCTGTAACTCCAGTGACATGAATGTTAGCTCTTTTTTATACCCCCACAGGTCCCTGAGGCTATGTTTGTGCTTACAGAATATTTTCTCTCTGTTGTTCAGACTGGATAATTTCTCTCTTTTTTTTTTTTTTTGAGATGGAGTCCCACACTGTTGCTCGGGCTGGAGTGCAGTGGCGCAATCCAGCTCACTTCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTA... | CTCTTGCCACATTTAAAAAGTTCTTAGCCGTTATTTATTCAAGTACTTTTTGGGCCCCTCCCTCTTTCTTCTCTCCTTCTGTAACTCCAGTGACATGAATGTTAGCTCTTTTTTATACCCCCACAGGTCCCTGAGGCTATGTTTGTGCTTACAGAATATTTTCTCTCTGTTGTTCAGACTGGATAATTTCTCTCTTTTTTTTTTTTTTTGAGATGGAGTCCCACACTGTTGCTCGGGCTGGAGTGCAGTGGCGCAATCCAGCTCACTTCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTA... | pathogenic | 67,122 |
Considering the genetic mutation at chromosome 3, position 43555426, impacting ANO10 (anoctamin 10): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_10'] | ATTTATTCAAGTACTTTTTGGGCCCCTCCCTCTTTCTTCTCTCCTTCTGTAACTCCAGTGACATGAATGTTAGCTCTTTTTTATACCCCCACAGGTCCCTGAGGCTATGTTTGTGCTTACAGAATATTTTCTCTCTGTTGTTCAGACTGGATAATTTCTCTCTTTTTTTTTTTTTTTGAGATGGAGTCCCACACTGTTGCTCGGGCTGGAGTGCAGTGGCGCAATCCAGCTCACTTCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAAGTGCCCACCACCACGCCCA... | ATTTATTCAAGTACTTTTTGGGCCCCTCCCTCTTTCTTCTCTCCTTCTGTAACTCCAGTGACATGAATGTTAGCTCTTTTTTATACCCCCACAGGTCCCTGAGGCTATGTTTGTGCTTACAGAATATTTTCTCTCTGTTGTTCAGACTGGATAATTTCTCTCTTTTTTTTTTTTTTTGAGATGGAGTCCCACACTGTTGCTCGGGCTGGAGTGCAGTGGCGCAATCCAGCTCACTTCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAAGTGCCCACCACCACGCCCA... | pathogenic | 67,124 |
Variant in ANO10 (anoctamin 10), chromosome 3, position 43576702—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_10'] | CAGAGGTACACATATTTATTAATCAATCCTTGCCTATTTGCACAAAATATATTGATATCTTAGATTAGAAGCAACTCTTCATATTTGTATTCCTATATATTATGTAGTATATACCAGTTTCATAAAATGGATTTGTACATAAACGCTGTACTTACCACTAAAACTTTCAGAATTAGATGGTTCTGATAGGCAGATTCCAATCTGTGATTCTCTAAAACATTAAAACACACAGGTAACTTCTCAGTAAGAAAACAATACGAAAGCACTGTTATGAGGTAAAGTGAGTTGCATTGAGGGCGGAGATGTCCAACATCAGAGCC... | CAGAGGTACACATATTTATTAATCAATCCTTGCCTATTTGCACAAAATATATTGATATCTTAGATTAGAAGCAACTCTTCATATTTGTATTCCTATATATTATGTAGTATATACCAGTTTCATAAAATGGATTTGTACATAAACGCTGTACTTACCACTAAAACTTTCAGAATTAGATGGTTCTGATAGGCAGATTCCAATCTGTGATTCTCTAAAACATTAAAACACACAGGTAACTTCTCAGTAAGAAAACAATACGAAAGCACTGTTATGAGGTAAAGTGAGTTGCATTGAGGGCGGAGATGTCCAACATCAGAGCC... | pathogenic | 67,136 |
Is the genetic change at chromosome 3, position 43576708, within gene ANO10 (anoctamin 10) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_10'] | TACACATATTTATTAATCAATCCTTGCCTATTTGCACAAAATATATTGATATCTTAGATTAGAAGCAACTCTTCATATTTGTATTCCTATATATTATGTAGTATATACCAGTTTCATAAAATGGATTTGTACATAAACGCTGTACTTACCACTAAAACTTTCAGAATTAGATGGTTCTGATAGGCAGATTCCAATCTGTGATTCTCTAAAACATTAAAACACACAGGTAACTTCTCAGTAAGAAAACAATACGAAAGCACTGTTATGAGGTAAAGTGAGTTGCATTGAGGGCGGAGATGTCCAACATCAGAGCCTCAGTC... | TACACATATTTATTAATCAATCCTTGCCTATTTGCACAAAATATATTGATATCTTAGATTAGAAGCAACTCTTCATATTTGTATTCCTATATATTATGTAGTATATACCAGTTTCATAAAATGGATTTGTACATAAACGCTGTACTTACCACTAAAACTTTCAGAATTAGATGGTTCTGATAGGCAGATTCCAATCTGTGATTCTCTAAAACATTAAAACACACAGGTAACTTCTCAGTAAGAAAACAATACGAAAGCACTGTTATGAGGTAAAGTGAGTTGCATTGAGGGCGGAGATGTCCAACATCAGAGCCTCAGTC... | pathogenic | 67,137 |
Is chromosome 3, position 43576797, gene ANO10 (anoctamin 10) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_10'] | TATATTATGTAGTATATACCAGTTTCATAAAATGGATTTGTACATAAACGCTGTACTTACCACTAAAACTTTCAGAATTAGATGGTTCTGATAGGCAGATTCCAATCTGTGATTCTCTAAAACATTAAAACACACAGGTAACTTCTCAGTAAGAAAACAATACGAAAGCACTGTTATGAGGTAAAGTGAGTTGCATTGAGGGCGGAGATGTCCAACATCAGAGCCTCAGTCAGTAAATGTACTAGGCTGTCAATCACAGCTATGCCTTACCACCAAGAGCATCAAACAGGGACACATTTTTCAGGGTACTGCAATAGCAC... | TATATTATGTAGTATATACCAGTTTCATAAAATGGATTTGTACATAAACGCTGTACTTACCACTAAAACTTTCAGAATTAGATGGTTCTGATAGGCAGATTCCAATCTGTGATTCTCTAAAACATTAAAACACACAGGTAACTTCTCAGTAAGAAAACAATACGAAAGCACTGTTATGAGGTAAAGTGAGTTGCATTGAGGGCGGAGATGTCCAACATCAGAGCCTCAGTCAGTAAATGTACTAGGCTGTCAATCACAGCTATGCCTTACCACCAAGAGCATCAAACAGGGACACATTTTTCAGGGTACTGCAATAGCAC... | pathogenic | 67,139 |
For chromosome 3, position 43600431, gene ANO10 (anoctamin 10): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_10'] | TATACTGAGGTTCCAAAGGGAAAAGATATGTTCATAAAAATACAAGTTATTGTAAGTTTGTGTAAGTTCTTCTGTAAGAGGGAAAAAAGGCATCTATAATTTGCTATTTATGTCTATTAAGAAAAAGACTGGTTGACATAATGACTTACACAATGATTTTCCTGGATACAACTTTGCCTGAGGGTAACCAGGGATCATTTTTTCATCTTTAGCTCTAAGATTTTCAAGTTCATGTTTGATAATGAATTGACATTCTGCCATTGTCAGGAAATCATCATTGTTATCTAAAATAAAACAGAAATTACCAGATTTTAGTAATA... | TATACTGAGGTTCCAAAGGGAAAAGATATGTTCATAAAAATACAAGTTATTGTAAGTTTGTGTAAGTTCTTCTGTAAGAGGGAAAAAAGGCATCTATAATTTGCTATTTATGTCTATTAAGAAAAAGACTGGTTGACATAATGACTTACACAATGATTTTCCTGGATACAACTTTGCCTGAGGGTAACCAGGGATCATTTTTTCATCTTTAGCTCTAAGATTTTCAAGTTCATGTTTGATAATGAATTGACATTCTGCCATTGTCAGGAAATCATCATTGTTATCTAAAATAAAACAGAAATTACCAGATTTTAGTAATA... | pathogenic | 67,160 |
Variant on chromosome 3, at position 43605720, affecting ANO10 (anoctamin 10): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Abnormal_central_motor_function', 'Autosomal_recessive_cerebellar_ataxia', 'Autosomal_recessive_spinocerebellar_ataxia_10'] | GGCTGTATGAGTCTAAACAGAAGTTCTGAGGGCTTAGATGGAGCTCATCAAGGATGGCCTTTAATGCAAGGCAGTCTTGTCAAATAATCTTCCGTTAGCAACCCCCTGATTTCTGCACCTTTCGTTATTTTGTCTTAAGCTGGTCAGGTTCTCCAAAGAAAGATTGTCCAATCTGCTTCCTACAAGGTGTGAATCTTGTTGTTAATATTTTGGAAACTGAATTAGGTATGTGAGTGGTGGAGTAGGGGAAAGGGGAATGGTATTCAGTATCTTATTTTCAGTACAGAATCTGTGCCTTCAACTGTGCATAGATTTCTATG... | GGCTGTATGAGTCTAAACAGAAGTTCTGAGGGCTTAGATGGAGCTCATCAAGGATGGCCTTTAATGCAAGGCAGTCTTGTCAAATAATCTTCCGTTAGCAACCCCCTGATTTCTGCACCTTTCGTTATTTTGTCTTAAGCTGGTCAGGTTCTCCAAAGAAAGATTGTCCAATCTGCTTCCTACAAGGTGTGAATCTTGTTGTTAATATTTTGGAAACTGAATTAGGTATGTGAGTGGTGGAGTAGGGGAAAGGGGAATGGTATTCAGTATCTTATTTTCAGTACAGAATCTGTGCCTTCAACTGTGCATAGATTTCTATG... | pathogenic | 67,165 |
Determine whether the variant at chromosome 3, position 43605756, in gene ANO10 (anoctamin 10) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_10'] | GATGGAGCTCATCAAGGATGGCCTTTAATGCAAGGCAGTCTTGTCAAATAATCTTCCGTTAGCAACCCCCTGATTTCTGCACCTTTCGTTATTTTGTCTTAAGCTGGTCAGGTTCTCCAAAGAAAGATTGTCCAATCTGCTTCCTACAAGGTGTGAATCTTGTTGTTAATATTTTGGAAACTGAATTAGGTATGTGAGTGGTGGAGTAGGGGAAAGGGGAATGGTATTCAGTATCTTATTTTCAGTACAGAATCTGTGCCTTCAACTGTGCATAGATTTCTATGCCAAAAACCATGCATCTGACCATCTCCAGAGAATAA... | GATGGAGCTCATCAAGGATGGCCTTTAATGCAAGGCAGTCTTGTCAAATAATCTTCCGTTAGCAACCCCCTGATTTCTGCACCTTTCGTTATTTTGTCTTAAGCTGGTCAGGTTCTCCAAAGAAAGATTGTCCAATCTGCTTCCTACAAGGTGTGAATCTTGTTGTTAATATTTTGGAAACTGAATTAGGTATGTGAGTGGTGGAGTAGGGGAAAGGGGAATGGTATTCAGTATCTTATTTTCAGTACAGAATCTGTGCCTTCAACTGTGCATAGATTTCTATGCCAAAAACCATGCATCTGACCATCTCCAGAGAATAA... | pathogenic | 67,167 |
The mutation in gene ABHD5 (abhydrolase domain containing 5, lysophosphatidic acid acyltransferase) at chromosome 3, position 43715014—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Triglyceride_storage_disease_with_ichthyosis'] | ATTTGTTTCCAGGGCCTGCTTTCCTGGGCATGTTGCTGCCTAATTGATACTATAGAAAAGATGCGTTCTAACCAGGTGCTGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGTAGGCAGATCACTTGAGGCCAGGCTTTGAGACAAGCCCGGCCAACATGACAAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCATAGTGGCACACACCTGTAATCCCAGCTACTCAGGAGAGGAGGCTGAGACATGAGAATTACTCAAACCTGGGAGGTGGAGGTTGTGGCGAGCCAAGATCGCACCACT... | ATTTGTTTCCAGGGCCTGCTTTCCTGGGCATGTTGCTGCCTAATTGATACTATAGAAAAGATGCGTTCTAACCAGGTGCTGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGTAGGCAGATCACTTGAGGCCAGGCTTTGAGACAAGCCCGGCCAACATGACAAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCATAGTGGCACACACCTGTAATCCCAGCTACTCAGGAGAGGAGGCTGAGACATGAGAATTACTCAAACCTGGGAGGTGGAGGTTGTGGCGAGCCAAGATCGCACCACT... | pathogenic | 67,184 |
Considering the variant on chromosome 3, location 45491752, involving gene LARS2, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Nonsyndromic_genetic_hearing_loss'] | CTCTTAAACTTAACTGCACATTGGAAACACCTGAGAGTTTTAAAATAATACTGATGCCTGGGTCTCACTCCAGATACTCCGATTTGATGGTTATTGGTGGTGAGGGGGGCATGGATCAGACATCAATAGTGTTCAGAGCTCCCTAGTTGATTCTGATGTGCAGCAGAGTCTGGGAACTACTGACTTAACATAGTGATGCCACACCTGGCCATGGCTCTGAATCACCTGGGAGGTGCTTACAGGTCCCATCTTGGCTGATCTTGATTCAGTGAGACCTGAAGATCCAAGTTTTTCAGGTTTGTGACTATCTGGCTATATTT... | CTCTTAAACTTAACTGCACATTGGAAACACCTGAGAGTTTTAAAATAATACTGATGCCTGGGTCTCACTCCAGATACTCCGATTTGATGGTTATTGGTGGTGAGGGGGGCATGGATCAGACATCAATAGTGTTCAGAGCTCCCTAGTTGATTCTGATGTGCAGCAGAGTCTGGGAACTACTGACTTAACATAGTGATGCCACACCTGGCCATGGCTCTGAATCACCTGGGAGGTGCTTACAGGTCCCATCTTGGCTGATCTTGATTCAGTGAGACCTGAAGATCCAAGTTTTTCAGGTTTGTGACTATCTGGCTATATTT... | pathogenic | 67,265 |
A genetic variant on chromosome 3, position 45962333, affects the gene FYCO1 (FYVE and coiled-coil domain autophagy adaptor 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cataract_18'] | CTCTAGCAGCACCTCAGCCACCGGTAATGTGACACCCGAGCCACTCAGGTCCTGAGAGAGACAGGCTCCATCACTGACCAGGAACTCCCAATCAACCCCAGATCTTTTGCCTTAAATAAAAAAGCTTGAACATGGGCTTGGCTGGCTTTTTCAAGGACACTTGAAATTGTCAGGAAGCAGGAAGACTCATTCTCTGAAGCAGCCTCATTCTCTAGGCTGGTCCACCCAAACTTTGGGAATGTGGAATGCTGCCAGGAGCTGGTGTTTTCCATCACACCCCTCAGGTCACAAATACCCTGAGTTCTAACTCTGTATATTGA... | CTCTAGCAGCACCTCAGCCACCGGTAATGTGACACCCGAGCCACTCAGGTCCTGAGAGAGACAGGCTCCATCACTGACCAGGAACTCCCAATCAACCCCAGATCTTTTGCCTTAAATAAAAAAGCTTGAACATGGGCTTGGCTGGCTTTTTCAAGGACACTTGAAATTGTCAGGAAGCAGGAAGACTCATTCTCTGAAGCAGCCTCATTCTCTAGGCTGGTCCACCCAAACTTTGGGAATGTGGAATGCTGCCAGGAGCTGGTGTTTTCCATCACACCCCTCAGGTCACAAATACCCTGAGTTCTAACTCTGTATATTGA... | pathogenic | 67,390 |
A mutation at chromosome position 45979726 on chromosome 3 in gene FYCO1 (FYVE and coiled-coil domain autophagy adaptor 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cataract_18'] | CCGAGCTACACCCTCATCACAGTGAAACACAGTCCAAGCTGAGCCCATACTGAATCTCCAGAAATGGTTTCTTAGAACCTTCACCTATTTTAGCCTAAATAGCTACCGCCTACCTCAAAGGGGTCTGAGGGAACCTACAAATGCTTCTTATCCATTAACTCTTGCCCTCTCAGTTAAAGACCCAGATGGCTACTTGATTATTAAAATTAACCAAGTAACCAGCAACTCACTTAGCCTAGGGATGTTCCAAGCCATTCCAACCAATGATGCCCCAGAGAGCAGTCTTCAACAGAGATGAAACTGGACCCTATGGGAAGCAG... | CCGAGCTACACCCTCATCACAGTGAAACACAGTCCAAGCTGAGCCCATACTGAATCTCCAGAAATGGTTTCTTAGAACCTTCACCTATTTTAGCCTAAATAGCTACCGCCTACCTCAAAGGGGTCTGAGGGAACCTACAAATGCTTCTTATCCATTAACTCTTGCCCTCTCAGTTAAAGACCCAGATGGCTACTTGATTATTAAAATTAACCAAGTAACCAGCAACTCACTTAGCCTAGGGATGTTCCAAGCCATTCCAACCAATGATGCCCCAGAGAGCAGTCTTCAACAGAGATGAAACTGGACCCTATGGGAAGCAG... | pathogenic | 67,438 |
Clinically, how would you classify the variant at chromosome 3, position 46701541, gene TMIE (transmembrane inner ear): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic | TGATAGTATTTGGCTGTGGTGGGGTCAAGGAGGATCTAGAGTACTTGAGTTGGTTAAAAAAAGTTCTGGGTACAAAAGTATACTAGAAATAGTGTACTGTAAGATCTCAGCTGTGTTCAGGAGTCTGCAGAGAAGTGGAACCCACGCAGAGCAGTGGCCATCTCAGGGAACACCGGGGGACACATATGATTGTATTTTCTTTCAGATTTCTTCACTAGGCTTGCCCTACTTCTTGATGGATGGATGAACTTTACAGAAAACAGAAACAGCTCTCCTCTGGGCTGAGCTGTGATTGGGAGCCTGTAAGCAGCAGAGCACTG... | TGATAGTATTTGGCTGTGGTGGGGTCAAGGAGGATCTAGAGTACTTGAGTTGGTTAAAAAAAGTTCTGGGTACAAAAGTATACTAGAAATAGTGTACTGTAAGATCTCAGCTGTGTTCAGGAGTCTGCAGAGAAGTGGAACCCACGCAGAGCAGTGGCCATCTCAGGGAACACCGGGGGACACATATGATTGTATTTTCTTTCAGATTTCTTCACTAGGCTTGCCCTACTTCTTGATGGATGGATGAACTTTACAGAAAACAGAAACAGCTCTCCTCTGGGCTGAGCTGTGATTGGGAGCCTGTAAGCAGCAGAGCACTG... | pathogenic | 67,467 |
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