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 |
|---|---|---|---|---|---|
Evaluate if the mutation on chromosome 4 at position 185145039 in SLC25A4 (solute carrier family 25 member 4) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_12B_(cardiomyopathic_type),_autosomal_recessive'] | TAAATACGCGGCCCACATGCCGCGGTGACACGGTGTTCCCTGGGCTCGGCGGGACAGATAACATGAATGTGCCCTTTAAACGTCCCAAGTTGCAGGGACAGCCCCCGGCCCAGCCTCGCTCCCGGAAGCGCCTTCGCCCCCGATGCCCTCTGCAGCTGGGAGGAGGGGGCGCCCCGCACCTGCCCAGCCAATGCGCGGCGCGAGCGCCGGCCGCGACCCGCCTCCTCTCGCGAGAGCCCGGCGGGGATATAAGGGGGAGCTGCGGGCCAGGCGGCGGCCCCCTAGCGTCGCGCAGGGTCGGGGACTGCGCGGCGGTGCCA... | TAAATACGCGGCCCACATGCCGCGGTGACACGGTGTTCCCTGGGCTCGGCGGGACAGATAACATGAATGTGCCCTTTAAACGTCCCAAGTTGCAGGGACAGCCCCCGGCCCAGCCTCGCTCCCGGAAGCGCCTTCGCCCCCGATGCCCTCTGCAGCTGGGAGGAGGGGGCGCCCCGCACCTGCCCAGCCAATGCGCGGCGCGAGCGCCGGCCGCGACCCGCCTCCTCTCGCGAGAGCCCGGCGGGGATATAAGGGGGAGCTGCGGGCCAGGCGGCGGCCCCCTAGCGTCGCGCAGGGTCGGGGACTGCGCGGCGGTGCCA... | pathogenic | 88,024 |
A genetic variant on chromosome 4, position 185145173, affects the gene SLC25A4 (solute carrier family 25 member 4). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_12B_(cardiomyopathic_type),_autosomal_recessive', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_2', 'SLC25A4-related_disorder'] | CGCCCCCGATGCCCTCTGCAGCTGGGAGGAGGGGGCGCCCCGCACCTGCCCAGCCAATGCGCGGCGCGAGCGCCGGCCGCGACCCGCCTCCTCTCGCGAGAGCCCGGCGGGGATATAAGGGGGAGCTGCGGGCCAGGCGGCGGCCCCCTAGCGTCGCGCAGGGTCGGGGACTGCGCGGCGGTGCCAGGCCGGGCGTGGGCGAGAGCACGAACGGGCTGCCTGCGGGCTGAGAGCGTCGAGCTGTCACCATGGGTGATCACGCTTGGAGCTTCCTAAAGGACTTCCTGGCCGGGGGCGTCGCCGCTGCCGTCTCCAAGACC... | CGCCCCCGATGCCCTCTGCAGCTGGGAGGAGGGGGCGCCCCGCACCTGCCCAGCCAATGCGCGGCGCGAGCGCCGGCCGCGACCCGCCTCCTCTCGCGAGAGCCCGGCGGGGATATAAGGGGGAGCTGCGGGCCAGGCGGCGGCCCCCTAGCGTCGCGCAGGGTCGGGGACTGCGCGGCGGTGCCAGGCCGGGCGTGGGCGAGAGCACGAACGGGCTGCCTGCGGGCTGAGAGCGTCGAGCTGTCACCATGGGTGATCACGCTTGGAGCTTCCTAAAGGACTTCCTGGCCGGGGGCGTCGCCGCTGCCGTCTCCAAGACC... | pathogenic | 88,027 |
Variant in gene PDLIM3 (PDZ and LIM domain 3), located at chromosome 4 position 185523450: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAAGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTCGACATCCTGGGCTCAAGCACTCCTCCCACCTCAGCCTTCTGTGTAGCTGGGACTTACAGGTGTGTACCAACATGCCCTGGTTAATTTTTAAAATTTATAGAAATGGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCAGGGCTCAAGCAATCTTTTTGCCTCTGCCTCCCAAAGGATTATAGGTGTGAGTCAATGCGCCTGGCCCCACTCAACTTTCAAGATTACTTTCCATGCA... | TTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAAGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTCGACATCCTGGGCTCAAGCACTCCTCCCACCTCAGCCTTCTGTGTAGCTGGGACTTACAGGTGTGTACCAACATGCCCTGGTTAATTTTTAAAATTTATAGAAATGGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCAGGGCTCAAGCAATCTTTTTGCCTCTGCCTCCCAAAGGATTATAGGTGTGAGTCAATGCGCCTGGCCCCACTCAACTTTCAAGATTACTTTCCATGCA... | benign | 88,120 |
Is the genetic mutation found on chromosome 4 at position 186191998, within the gene CYP4V2 (cytochrome P450 family 4 subfamily V member 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bietti_crystalline_corneoretinal_dystrophy'] | GAGACTCACTGCTGCCCAGAGCAATCTCCCTTCTCTCCTTCTGGAGGGGAGGGGTTGTATGTTACCCGCCTGGTTTTATCCACAGAGGTTAGCAGAGACTGATACAGACAAACCCTTTTTCTTTCTAATTTTAGATTCAAGAGCACATGTGCAGGTTTGTTAAATTTGCCTGACGCTGAGGTTTGAGTTTCTATTGATCCCCTCACCTGAATAGGGAACACAGTACCCAATACACAGTTTTTCAACCATTACTCCCCTTCCTTCCTCCCCCTATTTTAGAATCCCCAGTATGTAGACAAATTGTTTACTTTTATAGCTGT... | GAGACTCACTGCTGCCCAGAGCAATCTCCCTTCTCTCCTTCTGGAGGGGAGGGGTTGTATGTTACCCGCCTGGTTTTATCCACAGAGGTTAGCAGAGACTGATACAGACAAACCCTTTTTCTTTCTAATTTTAGATTCAAGAGCACATGTGCAGGTTTGTTAAATTTGCCTGACGCTGAGGTTTGAGTTTCTATTGATCCCCTCACCTGAATAGGGAACACAGTACCCAATACACAGTTTTTCAACCATTACTCCCCTTCCTTCCTCCCCCTATTTTAGAATCCCCAGTATGTAGACAAATTGTTTACTTTTATAGCTGT... | pathogenic | 88,166 |
A genetic variant at chromosome 4, position 186197021, affecting gene CYP4V2 (cytochrome P450 family 4 subfamily V member 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Bietti_crystalline_corneoretinal_dystrophy'] | CTCAAGTTGCTCAGGGTCTCATATCAATGATAAACTTAGTCCAAATTTAAAAGACAATGCAAATTTGATATTTATGGGATAAATATTACAAACCCATGCTGTTGAAATTAGTCCTCCAAAAAGCTGTAGTCTTTTTACTTGTTGAAAGGTCTGGGGAAATCATCTTGTAGTATGGTGAGAAAAGGATTTGGGTCAGGAAACAAAGATGGGGTAAACAGAGCTTCTCTTCATCGACCAAAATTAAAGACTGAATTTCCTAGGAAGTAGTGCCAGGACATGTCTTTCTAATTATGGTGAAAATGTTGGAGTTTCTCTTGCTT... | CTCAAGTTGCTCAGGGTCTCATATCAATGATAAACTTAGTCCAAATTTAAAAGACAATGCAAATTTGATATTTATGGGATAAATATTACAAACCCATGCTGTTGAAATTAGTCCTCCAAAAAGCTGTAGTCTTTTTACTTGTTGAAAGGTCTGGGGAAATCATCTTGTAGTATGGTGAGAAAAGGATTTGGGTCAGGAAACAAAGATGGGGTAAACAGAGCTTCTCTTCATCGACCAAAATTAAAGACTGAATTTCCTAGGAAGTAGTGCCAGGACATGTCTTTCTAATTATGGTGAAAATGTTGGAGTTTCTCTTGCTT... | pathogenic | 88,177 |
Gene CYP4V2 (cytochrome P450 family 4 subfamily V member 2) variant at chromosome 4, position 186201149—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Bietti_crystalline_corneoretinal_dystrophy', 'Retinal_dystrophy'] | ACAATTGTGGTAAAATAGACATAACATAAAATTTCCCTTTATAACCATTTTAACTGTACAGTTTGGTGGTATTAAGTGCATTCACGATGTTGTGCAACCATCCCCACCGTTCATTTCCAGAACTTTTGGTAAGTCCATGATGTTGATGTTTTGTTAACATACCCGGTGTAGGACTATGGAGCCTATGTCTCAGAAAATAAAACTTGAATAATAATAGAAAACAATTTTTCATATAAAAAATTATACTTAAGTATAAAAATGTATACTTCAATTATGTAGTCAACAAATATTAATTAAGTACTCGCTAAGTGCTAACCACC... | ACAATTGTGGTAAAATAGACATAACATAAAATTTCCCTTTATAACCATTTTAACTGTACAGTTTGGTGGTATTAAGTGCATTCACGATGTTGTGCAACCATCCCCACCGTTCATTTCCAGAACTTTTGGTAAGTCCATGATGTTGATGTTTTGTTAACATACCCGGTGTAGGACTATGGAGCCTATGTCTCAGAAAATAAAACTTGAATAATAATAGAAAACAATTTTTCATATAAAAAATTATACTTAAGTATAAAAATGTATACTTCAATTATGTAGTCAACAAATATTAATTAAGTACTCGCTAAGTGCTAACCACC... | pathogenic | 88,188 |
Is the chromosome 4, position 186205268 variant in CYP4V2 (cytochrome P450 family 4 subfamily V member 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Retinal_dystrophy'] | CCTACCAGGAACCTCTCAATCTCACGTAAACAATCAGAACCAGACTAATGATTTTTCTTCCAACTCTAACATTCCTTGACATTCTAATTGTTTTCTTCTTTGCATTGAAAGGGAGGCAGCATACCAGGTGTGAGTGTGATACTGTGGCCTCCTCCACAGGTCGGTGCAGGCTGTGAGTGACACTGTGGCCTCCTCCACAGGCCGGTGCAGGCTGTGAGTGTGATACTGTGGCCTCCTCCACAGGCTGGTGCAGGCTGCAACTGCCCAGGTTCCAGCTGTGAGCTAAAAGTGGGCGTCCTCCCCTGCTCCACCAGTGTGCC... | CCTACCAGGAACCTCTCAATCTCACGTAAACAATCAGAACCAGACTAATGATTTTTCTTCCAACTCTAACATTCCTTGACATTCTAATTGTTTTCTTCTTTGCATTGAAAGGGAGGCAGCATACCAGGTGTGAGTGTGATACTGTGGCCTCCTCCACAGGTCGGTGCAGGCTGTGAGTGACACTGTGGCCTCCTCCACAGGCCGGTGCAGGCTGTGAGTGTGATACTGTGGCCTCCTCCACAGGCTGGTGCAGGCTGCAACTGCCCAGGTTCCAGCTGTGAGCTAAAAGTGGGCGTCCTCCCCTGCTCCACCAGTGTGCC... | pathogenic | 88,195 |
A genetic variant at chromosome 4, position 186210839, affecting gene CYP4V2 (cytochrome P450 family 4 subfamily V member 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CTGTTCTTTTTAGATGTCTGCACCCCCAGCCCCCACTGCTCTTTCAGGTCATCTTATCTACTTGCTTTCATCAGGGAAGTCTGACCGTCCCGCTACAGTAGAAGACCTGAAGAAACTTCGGTATCTGGAATGTGTTATTAAGGAGACCCTTCGCCTTTTTCCTTCTGTTCCTTTATTTGCCCGTAGTGTTAGTGAAGATTGTGAAGTGGGTAAGTATGCTATACCTAAAGTAGAAGGGAGAGGGAAACTTTCTAATGTCTACCTTGCTCCGGTCTCATAATGTATTGACTACTTCTTGACAGCAGGTTACAGAGTTCTAA... | CTGTTCTTTTTAGATGTCTGCACCCCCAGCCCCCACTGCTCTTTCAGGTCATCTTATCTACTTGCTTTCATCAGGGAAGTCTGACCGTCCCGCTACAGTAGAAGACCTGAAGAAACTTCGGTATCTGGAATGTGTTATTAAGGAGACCCTTCGCCTTTTTCCTTCTGTTCCTTTATTTGCCCGTAGTGTTAGTGAAGATTGTGAAGTGGGTAAGTATGCTATACCTAAAGTAGAAGGGAGAGGGAAACTTTCTAATGTCTACCTTGCTCCGGTCTCATAATGTATTGACTACTTCTTGACAGCAGGTTACAGAGTTCTAA... | benign | 88,208 |
Does the variant on chromosome 4 at location 186271707 affecting gene F11 (coagulation factor XI) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_factor_XI_deficiency_disease'] | AGTTCTGGAGGTGGATGGTGCTGATGGTTGCACAGCAATGTAAATACCCTTAGTGCCACAGAACTGTACACTCAAGATGGCTACATGGCACATGGTATGCTATCTGTCATAATAAAAAATAAAAATAATTTTAAATGTTAATATGTGCCGAAAAATGCTTGCTAAAATTCTATTAATGATCAAAACTTTAAATAAACTGGAAATGGAAGAGAACTTTCATCAGCTATTAAACGATATTTTAAACAAAAGCAAACAAAAATCCAAACCAAAAATCTTCAAGAAACATAATACGTAATAGCGGAATATTGAAAGCTTTCCCA... | AGTTCTGGAGGTGGATGGTGCTGATGGTTGCACAGCAATGTAAATACCCTTAGTGCCACAGAACTGTACACTCAAGATGGCTACATGGCACATGGTATGCTATCTGTCATAATAAAAAATAAAAATAATTTTAAATGTTAATATGTGCCGAAAAATGCTTGCTAAAATTCTATTAATGATCAAAACTTTAAATAAACTGGAAATGGAAGAGAACTTTCATCAGCTATTAAACGATATTTTAAACAAAAGCAAACAAAAATCCAAACCAAAAATCTTCAAGAAACATAATACGTAATAGCGGAATATTGAAAGCTTTCCCA... | pathogenic | 88,250 |
Variant in gene F11 (coagulation factor XI), located at chromosome 4 position 186276275: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_factor_XI_deficiency_disease'] | GCCACTTTTTCACGTACGCCACAAGGCAGTTTCCCAGCCTGGAGCATCGGTGAGTGAGTCCCAGGACATTCGAGTGGTCGATGAAAAACAGAATCGTGATTTACTAAAAAGCTTTTGCCATCAACTTTATGCCAGAATTTATTTTGAACCCCTAAAAGACATTTCTATAATAGTACTCCTAGTTTTCTTCATGAAAAATACACTTAAAGCCTAATTTGGATGCATTTCATTTATGGTAAGGAGTCTATCTTTTAATAACACTGTCAGAAAAATATATATACTTGGCTAATTTCAAAAGCGCTACACTTTTAAATTGGCAC... | GCCACTTTTTCACGTACGCCACAAGGCAGTTTCCCAGCCTGGAGCATCGGTGAGTGAGTCCCAGGACATTCGAGTGGTCGATGAAAAACAGAATCGTGATTTACTAAAAAGCTTTTGCCATCAACTTTATGCCAGAATTTATTTTGAACCCCTAAAAGACATTTCTATAATAGTACTCCTAGTTTTCTTCATGAAAAATACACTTAAAGCCTAATTTGGATGCATTTCATTTATGGTAAGGAGTCTATCTTTTAATAACACTGTCAGAAAAATATATATACTTGGCTAATTTCAAAAGCGCTACACTTTTAAATTGGCAC... | pathogenic | 88,272 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 186280023, gene F11 (coagulation factor XI). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_factor_XI_deficiency_disease'] | TTTTTGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTGGTCTAGAACTCCTGGCCTCAAGCAATCCACCTGCCTTGGTCTCCCACAGTGCAGGGATTACAAGCCTGAGCCACTATGCCCAGCTTGCTATTCCTCATTGACAACATTCACTTAAACAAGCAAACAAATATCCGTAAAATTAAGTCAGCTTTAAAACCTGGCTTGTATATATCTCTGAATTGGAACTCTCAGAGCCCTCAGCACTTGCCTGATTGGCCTCCTGTTGATGAAAAGTTGTCCTCCAGACAACTCAGCCAAGGGAGGCCCTGTGTGCCTTGCCT... | TTTTTGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTGGTCTAGAACTCCTGGCCTCAAGCAATCCACCTGCCTTGGTCTCCCACAGTGCAGGGATTACAAGCCTGAGCCACTATGCCCAGCTTGCTATTCCTCATTGACAACATTCACTTAAACAAGCAAACAAATATCCGTAAAATTAAGTCAGCTTTAAAACCTGGCTTGTATATATCTCTGAATTGGAACTCTCAGAGCCCTCAGCACTTGCCTGATTGGCCTCCTGTTGATGAAAAGTTGTCCTCCAGACAACTCAGCCAAGGGAGGCCCTGTGTGCCTTGCCT... | pathogenic | 88,279 |
Chromosome 4, position 186280262, gene F11 (coagulation factor XI): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_factor_XI_deficiency_disease'] | GCACTTGCCTGATTGGCCTCCTGTTGATGAAAAGTTGTCCTCCAGACAACTCAGCCAAGGGAGGCCCTGTGTGCCTTGCCTATCACATGAGCCTCACTTTCCACTGAGTGAGGCTGTCATTTCAGAAGCACCGGGTCTGTCACATGAAAATATATCTGTTACCATCACTTACTAAACAAATTTAGTAGAATTTGTTTGGTGCTTATTATGTATCAGGCATTGTTCTGAAGGCTGGGGATACCATTTAGTGAACTAAATCGACAAAAACTTTGCCTATTGGACCAGAGTGGAGATGAGAGAGAAGTGACCAGATCGATCTG... | GCACTTGCCTGATTGGCCTCCTGTTGATGAAAAGTTGTCCTCCAGACAACTCAGCCAAGGGAGGCCCTGTGTGCCTTGCCTATCACATGAGCCTCACTTTCCACTGAGTGAGGCTGTCATTTCAGAAGCACCGGGTCTGTCACATGAAAATATATCTGTTACCATCACTTACTAAACAAATTTAGTAGAATTTGTTTGGTGCTTATTATGTATCAGGCATTGTTCTGAAGGCTGGGGATACCATTTAGTGAACTAAATCGACAAAAACTTTGCCTATTGGACCAGAGTGGAGATGAGAGAGAAGTGACCAGATCGATCTG... | pathogenic | 88,283 |
Clinical impact (benign or pathogenic) of the variant at chromosome 4, location 186280315, gene F11 (coagulation factor XI): what disease(s) if pathogenic? | pathogenic; ['Hereditary_factor_XI_deficiency_disease'] | GCCAAGGGAGGCCCTGTGTGCCTTGCCTATCACATGAGCCTCACTTTCCACTGAGTGAGGCTGTCATTTCAGAAGCACCGGGTCTGTCACATGAAAATATATCTGTTACCATCACTTACTAAACAAATTTAGTAGAATTTGTTTGGTGCTTATTATGTATCAGGCATTGTTCTGAAGGCTGGGGATACCATTTAGTGAACTAAATCGACAAAAACTTTGCCTATTGGACCAGAGTGGAGATGAGAGAGAAGTGACCAGATCGATCTGTGTTATCAGCAGACAGCCAATAAGATTTGCTGATAGGTTGGACCACGGATTGT... | GCCAAGGGAGGCCCTGTGTGCCTTGCCTATCACATGAGCCTCACTTTCCACTGAGTGAGGCTGTCATTTCAGAAGCACCGGGTCTGTCACATGAAAATATATCTGTTACCATCACTTACTAAACAAATTTAGTAGAATTTGTTTGGTGCTTATTATGTATCAGGCATTGTTCTGAAGGCTGGGGATACCATTTAGTGAACTAAATCGACAAAAACTTTGCCTATTGGACCAGAGTGGAGATGAGAGAGAAGTGACCAGATCGATCTGTGTTATCAGCAGACAGCCAATAAGATTTGCTGATAGGTTGGACCACGGATTGT... | pathogenic | 88,285 |
A mutation at chromosome position 186280516 on chromosome 4 in gene F11 (coagulation factor XI): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['F11-related_disorder', 'Hereditary_factor_XI_deficiency_disease', 'Plasma_factor_XI_deficiency'] | AAATCGACAAAAACTTTGCCTATTGGACCAGAGTGGAGATGAGAGAGAAGTGACCAGATCGATCTGTGTTATCAGCAGACAGCCAATAAGATTTGCTGATAGGTTGGACCACGGATTGTGAAGGAGTCAGTGATAGCACCAAGACTTTTGGCCCAAGGAACTGGAAAGATGGAAATGTCAATGACAGAATGTGGAGGATTTCGCAAGCAGCAGAGTGTAGGAGAAGCAATGCCCTTGGCTCATCTAGGGCAAAGGGTTGAATTGGCAACTGGAAATAGAAGTCAAATTCAGAAGAGAGGTTTATGTGGACATCTGTGTTT... | AAATCGACAAAAACTTTGCCTATTGGACCAGAGTGGAGATGAGAGAGAAGTGACCAGATCGATCTGTGTTATCAGCAGACAGCCAATAAGATTTGCTGATAGGTTGGACCACGGATTGTGAAGGAGTCAGTGATAGCACCAAGACTTTTGGCCCAAGGAACTGGAAAGATGGAAATGTCAATGACAGAATGTGGAGGATTTCGCAAGCAGCAGAGTGTAGGAGAAGCAATGCCCTTGGCTCATCTAGGGCAAAGGGTTGAATTGGCAACTGGAAATAGAAGTCAAATTCAGAAGAGAGGTTTATGTGGACATCTGTGTTT... | pathogenic | 88,291 |
Clinical classification of chromosome 4, position 186284084, gene F11 (coagulation factor XI): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_factor_XI_deficiency_disease', 'Plasma_factor_XI_deficiency'] | ATTTCCCTAAGACAAGAAGGAGCATTCGGCACCATTCTGTTGTCTTTCTTCTACTTCTAAGCGTTAGAAGGGACACTTAGCAAATGTTGCTGTTAAGTAATGTTGACATGGTTTAATAAAATGGGAATGAGCACGTATACCTCAATACATTGCAGACTGCATTTTCCCCCTTCCTTCTTCATTATGGTTTTCTCTGTTGGATTTATAGACTCTGGCCTGTAGAAGTTACAGAATATGCCAGGTATAGATTGATAGCTACAGGAGAAAATGTAAGATAAAGGAAAATAAAGTCTTACGTCTTTTCAGTGCAACTTTGGAGG... | ATTTCCCTAAGACAAGAAGGAGCATTCGGCACCATTCTGTTGTCTTTCTTCTACTTCTAAGCGTTAGAAGGGACACTTAGCAAATGTTGCTGTTAAGTAATGTTGACATGGTTTAATAAAATGGGAATGAGCACGTATACCTCAATACATTGCAGACTGCATTTTCCCCCTTCCTTCTTCATTATGGTTTTCTCTGTTGGATTTATAGACTCTGGCCTGTAGAAGTTACAGAATATGCCAGGTATAGATTGATAGCTACAGGAGAAAATGTAAGATAAAGGAAAATAAAGTCTTACGTCTTTTCAGTGCAACTTTGGAGG... | pathogenic | 88,294 |
Regarding the variant found on chromosome 4 at position 186284230 in gene F11 (coagulation factor XI): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_factor_XI_deficiency_disease'] | ACATTGCAGACTGCATTTTCCCCCTTCCTTCTTCATTATGGTTTTCTCTGTTGGATTTATAGACTCTGGCCTGTAGAAGTTACAGAATATGCCAGGTATAGATTGATAGCTACAGGAGAAAATGTAAGATAAAGGAAAATAAAGTCTTACGTCTTTTCAGTGCAACTTTGGAGGGAGTGAATTAGATAACTAGGTTTTTACTGCGCTGTATTTGATGAAATAACCCCCTAATGTGAAAGGGAATAGCTGCGTGAGATATTTATGGTGCCTTGTCTGTCACTGGTCTACAATGTAACTTAACTTTCTGAAGATAGATAGCA... | ACATTGCAGACTGCATTTTCCCCCTTCCTTCTTCATTATGGTTTTCTCTGTTGGATTTATAGACTCTGGCCTGTAGAAGTTACAGAATATGCCAGGTATAGATTGATAGCTACAGGAGAAAATGTAAGATAAAGGAAAATAAAGTCTTACGTCTTTTCAGTGCAACTTTGGAGGGAGTGAATTAGATAACTAGGTTTTTACTGCGCTGTATTTGATGAAATAACCCCCTAATGTGAAAGGGAATAGCTGCGTGAGATATTTATGGTGCCTTGTCTGTCACTGGTCTACAATGTAACTTAACTTTCTGAAGATAGATAGCA... | pathogenic | 88,303 |
Is the variant located on chromosome 4 at position 186285654, gene F11 (coagulation factor XI), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_factor_XI_deficiency_disease', 'Plasma_factor_XI_deficiency'] | CAGCCTGCGGGCAAGGTGCTTGCCTTTTCTTTCTAAGAGCAGTTCTCAAACGCCAGCAGGGCTGGTTCAAACACAGATGGCTGAGCTTCCAGGCTGGAGTTTCTCATTCACTGGATCTGAGGTTGGGCTGAAGAATGTGCATTTCTAACACGTTCCCAGGTGACGCTGTTGGTCTGGAGACTGCACTTGACAACCACTGGTTTAAAAACACCATTCACGTTATCATTTGAAGGAGGGTAAGACAGCCTTGTAGTACCACACAAGGAGGGCTACATTCTTAGGGGTGTGTAATTACAAGATGACTTAGTCAATTCCATTTT... | CAGCCTGCGGGCAAGGTGCTTGCCTTTTCTTTCTAAGAGCAGTTCTCAAACGCCAGCAGGGCTGGTTCAAACACAGATGGCTGAGCTTCCAGGCTGGAGTTTCTCATTCACTGGATCTGAGGTTGGGCTGAAGAATGTGCATTTCTAACACGTTCCCAGGTGACGCTGTTGGTCTGGAGACTGCACTTGACAACCACTGGTTTAAAAACACCATTCACGTTATCATTTGAAGGAGGGTAAGACAGCCTTGTAGTACCACACAAGGAGGGCTACATTCTTAGGGGTGTGTAATTACAAGATGACTTAGTCAATTCCATTTT... | pathogenic | 88,306 |
A genetic alteration at chromosome 4, position 186285774, in gene F11 (coagulation factor XI)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic | GGTTGGGCTGAAGAATGTGCATTTCTAACACGTTCCCAGGTGACGCTGTTGGTCTGGAGACTGCACTTGACAACCACTGGTTTAAAAACACCATTCACGTTATCATTTGAAGGAGGGTAAGACAGCCTTGTAGTACCACACAAGGAGGGCTACATTCTTAGGGGTGTGTAATTACAAGATGACTTAGTCAATTCCATTTTTCATGTGCATGTTTTGCTTTGGCAGCTTGATTATAAAGTCTCTGTAACTCAGGGTCATGATAAACTATTGACTTGAGGAAAGGTTTTCTTCTTGTTCCTGAAGGAGCATAATTACTGATG... | GGTTGGGCTGAAGAATGTGCATTTCTAACACGTTCCCAGGTGACGCTGTTGGTCTGGAGACTGCACTTGACAACCACTGGTTTAAAAACACCATTCACGTTATCATTTGAAGGAGGGTAAGACAGCCTTGTAGTACCACACAAGGAGGGCTACATTCTTAGGGGTGTGTAATTACAAGATGACTTAGTCAATTCCATTTTTCATGTGCATGTTTTGCTTTGGCAGCTTGATTATAAAGTCTCTGTAACTCAGGGTCATGATAAACTATTGACTTGAGGAAAGGTTTTCTTCTTGTTCCTGAAGGAGCATAATTACTGATG... | pathogenic | 88,309 |
Is the genetic change at chromosome 5, position 218355, within gene SDHA (succinate dehydrogenase complex flavoprotein subunit A) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | GTTACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTC... | GTTACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTC... | pathogenic | 88,513 |
Considering the genetic mutation at chromosome 5, position 218355, impacting SDHA (succinate dehydrogenase complex flavoprotein subunit A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Paragangliomas_5'] | GTTACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTC... | GTTACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTC... | pathogenic | 88,514 |
The genetic variant at chromosome 5, position 218359, affecting gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | CAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCAA... | CAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCAA... | pathogenic | 88,523 |
Variant in gene SDHA (succinate dehydrogenase complex flavoprotein subunit A), located at chromosome 5 position 218360: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_5'] | AGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCAAA... | AGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCAAA... | pathogenic | 88,524 |
Variant chromosome 5, position 218395, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | TTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCAAAGTCACGGCCTTCAGGCTCCCACACCATGCTGCCTC... | TTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCAAAGTCACGGCCTTCAGGCTCCCACACCATGCTGCCTC... | pathogenic | 88,544 |
Does the variant on chromosome 5 at location 218419 affecting gene SDHA (succinate dehydrogenase complex flavoprotein subunit A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | AGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCAAAGTCACGGCCTTCAGGCTCCCACACCATGCTGCCTCCCTCACCGGGGCTCCACACTCTCA... | AGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCAAAGTCACGGCCTTCAGGCTCCCACACCATGCTGCCTCCCTCACCGGGGCTCCACACTCTCA... | pathogenic | 88,553 |
Determine if the mutation at chromosome 5, position 223500 in gene SDHA (succinate dehydrogenase complex flavoprotein subunit A) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | ATTAGTTTCTTGCTCGTGATTTATAGGTGCGTTGTATTAGATGAGGACCCCTTACTTTGCTAGATTTCGGATATGAATGTCTCTGCACTTCTTACTTTTCCCCTCCACCTCCTAATTCAGTCATCTGAAATTCTGTATTGTTAAGCAAGGTCTAAGTATTCCTTTTAGTTATATGTTCCCCATTTTTTTTCTTGAGGAAATGTTTGATAGTTTCTCCTAAAAAAATTAACAATTGGCACAAAAGACTAGTTTTGTGTCAAAACTAGTTTTGAGTTTTATCTAAAGACTGAAATTGGCTTAAAGTTGGGCTTTCCAAATTC... | ATTAGTTTCTTGCTCGTGATTTATAGGTGCGTTGTATTAGATGAGGACCCCTTACTTTGCTAGATTTCGGATATGAATGTCTCTGCACTTCTTACTTTTCCCCTCCACCTCCTAATTCAGTCATCTGAAATTCTGTATTGTTAAGCAAGGTCTAAGTATTCCTTTTAGTTATATGTTCCCCATTTTTTTTCTTGAGGAAATGTTTGATAGTTTCTCCTAAAAAAATTAACAATTGGCACAAAAGACTAGTTTTGTGTCAAAACTAGTTTTGAGTTTTATCTAAAGACTGAAATTGGCTTAAAGTTGGGCTTTCCAAATTC... | pathogenic | 88,560 |
Is the chromosome 5, position 223513 variant in SDHA (succinate dehydrogenase complex flavoprotein subunit A) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | TCGTGATTTATAGGTGCGTTGTATTAGATGAGGACCCCTTACTTTGCTAGATTTCGGATATGAATGTCTCTGCACTTCTTACTTTTCCCCTCCACCTCCTAATTCAGTCATCTGAAATTCTGTATTGTTAAGCAAGGTCTAAGTATTCCTTTTAGTTATATGTTCCCCATTTTTTTTCTTGAGGAAATGTTTGATAGTTTCTCCTAAAAAAATTAACAATTGGCACAAAAGACTAGTTTTGTGTCAAAACTAGTTTTGAGTTTTATCTAAAGACTGAAATTGGCTTAAAGTTGGGCTTTCCAAATTCAAAAATCTGCCCC... | TCGTGATTTATAGGTGCGTTGTATTAGATGAGGACCCCTTACTTTGCTAGATTTCGGATATGAATGTCTCTGCACTTCTTACTTTTCCCCTCCACCTCCTAATTCAGTCATCTGAAATTCTGTATTGTTAAGCAAGGTCTAAGTATTCCTTTTAGTTATATGTTCCCCATTTTTTTTCTTGAGGAAATGTTTGATAGTTTCTCCTAAAAAAATTAACAATTGGCACAAAAGACTAGTTTTGTGTCAAAACTAGTTTTGAGTTTTATCTAAAGACTGAAATTGGCTTAAAGTTGGGCTTTCCAAATTCAAAAATCTGCCCC... | pathogenic | 88,563 |
Is the genetic mutation found on chromosome 5 at position 223539, within the gene SDHA (succinate dehydrogenase complex flavoprotein subunit A), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | GATGAGGACCCCTTACTTTGCTAGATTTCGGATATGAATGTCTCTGCACTTCTTACTTTTCCCCTCCACCTCCTAATTCAGTCATCTGAAATTCTGTATTGTTAAGCAAGGTCTAAGTATTCCTTTTAGTTATATGTTCCCCATTTTTTTTCTTGAGGAAATGTTTGATAGTTTCTCCTAAAAAAATTAACAATTGGCACAAAAGACTAGTTTTGTGTCAAAACTAGTTTTGAGTTTTATCTAAAGACTGAAATTGGCTTAAAGTTGGGCTTTCCAAATTCAAAAATCTGCCCCAGATTAGATTTAGATTGAGAGGGTTA... | GATGAGGACCCCTTACTTTGCTAGATTTCGGATATGAATGTCTCTGCACTTCTTACTTTTCCCCTCCACCTCCTAATTCAGTCATCTGAAATTCTGTATTGTTAAGCAAGGTCTAAGTATTCCTTTTAGTTATATGTTCCCCATTTTTTTTCTTGAGGAAATGTTTGATAGTTTCTCCTAAAAAAATTAACAATTGGCACAAAAGACTAGTTTTGTGTCAAAACTAGTTTTGAGTTTTATCTAAAGACTGAAATTGGCTTAAAGTTGGGCTTTCCAAATTCAAAAATCTGCCCCAGATTAGATTTAGATTGAGAGGGTTA... | pathogenic | 88,570 |
Chromosome 5, position 223553, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | ACTTTGCTAGATTTCGGATATGAATGTCTCTGCACTTCTTACTTTTCCCCTCCACCTCCTAATTCAGTCATCTGAAATTCTGTATTGTTAAGCAAGGTCTAAGTATTCCTTTTAGTTATATGTTCCCCATTTTTTTTCTTGAGGAAATGTTTGATAGTTTCTCCTAAAAAAATTAACAATTGGCACAAAAGACTAGTTTTGTGTCAAAACTAGTTTTGAGTTTTATCTAAAGACTGAAATTGGCTTAAAGTTGGGCTTTCCAAATTCAAAAATCTGCCCCAGATTAGATTTAGATTGAGAGGGTTAGTGTCCTTTTCGCC... | ACTTTGCTAGATTTCGGATATGAATGTCTCTGCACTTCTTACTTTTCCCCTCCACCTCCTAATTCAGTCATCTGAAATTCTGTATTGTTAAGCAAGGTCTAAGTATTCCTTTTAGTTATATGTTCCCCATTTTTTTTCTTGAGGAAATGTTTGATAGTTTCTCCTAAAAAAATTAACAATTGGCACAAAAGACTAGTTTTGTGTCAAAACTAGTTTTGAGTTTTATCTAAAGACTGAAATTGGCTTAAAGTTGGGCTTTCCAAATTCAAAAATCTGCCCCAGATTAGATTTAGATTGAGAGGGTTAGTGTCCTTTTCGCC... | pathogenic | 88,573 |
The mutation impacting SDHA (succinate dehydrogenase complex flavoprotein subunit A) on chromosome 5 at position 224376: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Dilated_cardiomyopathy_1GG', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | TCCTAAAGCTTTTTTTTCTTTTCTTTTTTTTTTTTTTGGAGACGTTGTCTCTCTCTGTTGCCGAGGCCGGAGTGCAGTGGCACAGTCTAGGCTCACTGCAGCCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACGACGCCCAGCTAATTGTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTTGGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCCCTAAAAC... | TCCTAAAGCTTTTTTTTCTTTTCTTTTTTTTTTTTTTGGAGACGTTGTCTCTCTCTGTTGCCGAGGCCGGAGTGCAGTGGCACAGTCTAGGCTCACTGCAGCCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACGACGCCCAGCTAATTGTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTTGGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCCCTAAAAC... | pathogenic | 88,582 |
Considering the genetic mutation at chromosome 5, position 224379, impacting SDHA (succinate dehydrogenase complex flavoprotein subunit A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | TAAAGCTTTTTTTTCTTTTCTTTTTTTTTTTTTTGGAGACGTTGTCTCTCTCTGTTGCCGAGGCCGGAGTGCAGTGGCACAGTCTAGGCTCACTGCAGCCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACGACGCCCAGCTAATTGTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTTGGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCCCTAAAACTAT... | TAAAGCTTTTTTTTCTTTTCTTTTTTTTTTTTTTGGAGACGTTGTCTCTCTCTGTTGCCGAGGCCGGAGTGCAGTGGCACAGTCTAGGCTCACTGCAGCCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACGACGCCCAGCTAATTGTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTTGGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCCCTAAAACTAT... | pathogenic | 88,584 |
Is chromosome 5, position 224451, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | AGTGGCACAGTCTAGGCTCACTGCAGCCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACGACGCCCAGCTAATTGTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTTGGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCCCTAAAACTATTCTTGATGATATTTCTGAGACTATTCAGTGGTCTTCTCAAATGTAGCCAGCAGAATGGAAAACGTATCCCCT... | AGTGGCACAGTCTAGGCTCACTGCAGCCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACGACGCCCAGCTAATTGTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTTGGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCCCTAAAACTATTCTTGATGATATTTCTGAGACTATTCAGTGGTCTTCTCAAATGTAGCCAGCAGAATGGAAAACGTATCCCCT... | pathogenic | 88,593 |
Clinically, how would you classify the variant at chromosome 5, position 224501, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACGACGCCCAGCTAATTGTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTTGGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCCCTAAAACTATTCTTGATGATATTTCTGAGACTATTCAGTGGTCTTCTCAAATGTAGCCAGCAGAATGGAAAACGTATCCCCTAAATGGCTGGCCAACCTTAGCATATGGACAGTGTCACCTCTCTCACACAG... | TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACGACGCCCAGCTAATTGTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTTGGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCCCTAAAACTATTCTTGATGATATTTCTGAGACTATTCAGTGGTCTTCTCAAATGTAGCCAGCAGAATGGAAAACGTATCCCCTAAATGGCTGGCCAACCTTAGCATATGGACAGTGTCACCTCTCTCACACAG... | pathogenic | 88,607 |
Clinical significance of chromosome 5, position 224516, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Dilated_cardiomyopathy_1GG', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | CTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACGACGCCCAGCTAATTGTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTTGGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCCCTAAAACTATTCTTGATGATATTTCTGAGACTATTCAGTGGTCTTCTCAAATGTAGCCAGCAGAATGGAAAACGTATCCCCTAAATGGCTGGCCAACCTTAGCATATGGACAGTGTCACCTCTCTCACACAGAGCCACTAAAAACTA... | CTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACGACGCCCAGCTAATTGTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTTGGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCCCTAAAACTATTCTTGATGATATTTCTGAGACTATTCAGTGGTCTTCTCAAATGTAGCCAGCAGAATGGAAAACGTATCCCCTAAATGGCTGGCCAACCTTAGCATATGGACAGTGTCACCTCTCTCACACAGAGCCACTAAAAACTA... | pathogenic | 88,613 |
The mutation in gene SDHA (succinate dehydrogenase complex flavoprotein subunit A) at chromosome 5, position 224516—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | CTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACGACGCCCAGCTAATTGTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTTGGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCCCTAAAACTATTCTTGATGATATTTCTGAGACTATTCAGTGGTCTTCTCAAATGTAGCCAGCAGAATGGAAAACGTATCCCCTAAATGGCTGGCCAACCTTAGCATATGGACAGTGTCACCTCTCTCACACAGAGCCACTAAAAACTA... | CTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACGACGCCCAGCTAATTGTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTTGGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCCCTAAAACTATTCTTGATGATATTTCTGAGACTATTCAGTGGTCTTCTCAAATGTAGCCAGCAGAATGGAAAACGTATCCCCTAAATGGCTGGCCAACCTTAGCATATGGACAGTGTCACCTCTCTCACACAGAGCCACTAAAAACTA... | pathogenic | 88,614 |
Does the genetic variant at chromosome 5, position 225427, impacting gene SDHA (succinate dehydrogenase complex flavoprotein subunit A), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | TACATAAGAAGGTGAACAGTTTGCAAGGGGAAATTACTATCCCCCACAGCATTTGTTCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTTTTTTGGCTTAGGGGGTAAGGATCTATACCAGTTTGTTTTCATATGAGTCATAGACATAAGGGAAAAATTTCTCATAGGTATCCAATGCATGCTG... | TACATAAGAAGGTGAACAGTTTGCAAGGGGAAATTACTATCCCCCACAGCATTTGTTCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTTTTTTGGCTTAGGGGGTAAGGATCTATACCAGTTTGTTTTCATATGAGTCATAGACATAAGGGAAAAATTTCTCATAGGTATCCAATGCATGCTG... | pathogenic | 88,624 |
Variant at chromosome position 225482, chromosome 5, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Dilated_cardiomyopathy_1GG', 'Hereditary_cancer-predisposing_syndrome', 'Leigh_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5', 'SDHA-related_disorder'] | TTCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTTTTTTGGCTTAGGGGGTAAGGATCTATACCAGTTTGTTTTCATATGAGTCATAGACATAAGGGAAAAATTTCTCATAGGTATCCAATGCATGCTGAAATTATTTTCAGTGTAATAATACTTAATTGCAAGTACAAATATAAACATAGATG... | TTCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTTTTTTGGCTTAGGGGGTAAGGATCTATACCAGTTTGTTTTCATATGAGTCATAGACATAAGGGAAAAATTTCTCATAGGTATCCAATGCATGCTGAAATTATTTTCAGTGTAATAATACTTAATTGCAAGTACAAATATAAACATAGATG... | pathogenic | 88,634 |
Is the chromosome 5, position 225504 variant in SDHA (succinate dehydrogenase complex flavoprotein subunit A) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | TGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTTTTTTGGCTTAGGGGGTAAGGATCTATACCAGTTTGTTTTCATATGAGTCATAGACATAAGGGAAAAATTTCTCATAGGTATCCAATGCATGCTGAAATTATTTTCAGTGTAATAATACTTAATTGCAAGTACAAATATAAACATAGATGTTTACATTTTTACTTGTATCTG... | TGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTTTTTTGGCTTAGGGGGTAAGGATCTATACCAGTTTGTTTTCATATGAGTCATAGACATAAGGGAAAAATTTCTCATAGGTATCCAATGCATGCTGAAATTATTTTCAGTGTAATAATACTTAATTGCAAGTACAAATATAAACATAGATGTTTACATTTTTACTTGTATCTG... | pathogenic | 88,638 |
Chromosome 5, position 225551, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | GGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTTTTTTGGCTTAGGGGGTAAGGATCTATACCAGTTTGTTTTCATATGAGTCATAGACATAAGGGAAAAATTTCTCATAGGTATCCAATGCATGCTGAAATTATTTTCAGTGTAATAATACTTAATTGCAAGTACAAATATAAACATAGATGTTTACATTTTTACTTGTATCTGTTATGTATCTATAAACTAGATTTAAATTTAGATCAAGTAAAGCAATA... | GGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTTTTTTGGCTTAGGGGGTAAGGATCTATACCAGTTTGTTTTCATATGAGTCATAGACATAAGGGAAAAATTTCTCATAGGTATCCAATGCATGCTGAAATTATTTTCAGTGTAATAATACTTAATTGCAAGTACAAATATAAACATAGATGTTTACATTTTTACTTGTATCTGTTATGTATCTATAAACTAGATTTAAATTTAGATCAAGTAAAGCAATA... | pathogenic | 88,646 |
Is the genetic mutation found on chromosome 5 at position 225879, within the gene SDHA (succinate dehydrogenase complex flavoprotein subunit A), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Dilated_cardiomyopathy_1GG', 'Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | TAAAATGAACAGTGTCTGCTGTGATAGATGATAAAATTCCTACTGAAAATAGGACGGTGGGGCCAGTGAACAGTATCTGCTGTGATAGATGATAAAATCCTACTGAAAATAGGATGGTGGGGCCCCTCGGGTGTGGGTTGCTTTGTATTTAGTGAGCCTATCTCTGTTGAAAAACTGAAACTTGCTGAGAAGTTGTTTTCTTATAAGCCCACAATAGCGACTGAATACTCCTTGGCACCTTCTCAGGCATAAGCATAGGCACGGCCCTGAAGTAGAGTTGTGGTCCTCAGTCTGACCCCATGGGATAGACCCTCTACCAT... | TAAAATGAACAGTGTCTGCTGTGATAGATGATAAAATTCCTACTGAAAATAGGACGGTGGGGCCAGTGAACAGTATCTGCTGTGATAGATGATAAAATCCTACTGAAAATAGGATGGTGGGGCCCCTCGGGTGTGGGTTGCTTTGTATTTAGTGAGCCTATCTCTGTTGAAAAACTGAAACTTGCTGAGAAGTTGTTTTCTTATAAGCCCACAATAGCGACTGAATACTCCTTGGCACCTTCTCAGGCATAAGCATAGGCACGGCCCTGAAGTAGAGTTGTGGTCCTCAGTCTGACCCCATGGGATAGACCCTCTACCAT... | pathogenic | 88,664 |
Is the genetic variant on chromosome 5, position 225886, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5', 'SDHA-related_disorder'] | AACAGTGTCTGCTGTGATAGATGATAAAATTCCTACTGAAAATAGGACGGTGGGGCCAGTGAACAGTATCTGCTGTGATAGATGATAAAATCCTACTGAAAATAGGATGGTGGGGCCCCTCGGGTGTGGGTTGCTTTGTATTTAGTGAGCCTATCTCTGTTGAAAAACTGAAACTTGCTGAGAAGTTGTTTTCTTATAAGCCCACAATAGCGACTGAATACTCCTTGGCACCTTCTCAGGCATAAGCATAGGCACGGCCCTGAAGTAGAGTTGTGGTCCTCAGTCTGACCCCATGGGATAGACCCTCTACCATTCGTAGA... | AACAGTGTCTGCTGTGATAGATGATAAAATTCCTACTGAAAATAGGACGGTGGGGCCAGTGAACAGTATCTGCTGTGATAGATGATAAAATCCTACTGAAAATAGGATGGTGGGGCCCCTCGGGTGTGGGTTGCTTTGTATTTAGTGAGCCTATCTCTGTTGAAAAACTGAAACTTGCTGAGAAGTTGTTTTCTTATAAGCCCACAATAGCGACTGAATACTCCTTGGCACCTTCTCAGGCATAAGCATAGGCACGGCCCTGAAGTAGAGTTGTGGTCCTCAGTCTGACCCCATGGGATAGACCCTCTACCATTCGTAGA... | pathogenic | 88,666 |
Does the chromosome 5 mutation at position 225890 within gene SDHA (succinate dehydrogenase complex flavoprotein subunit A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | GTGTCTGCTGTGATAGATGATAAAATTCCTACTGAAAATAGGACGGTGGGGCCAGTGAACAGTATCTGCTGTGATAGATGATAAAATCCTACTGAAAATAGGATGGTGGGGCCCCTCGGGTGTGGGTTGCTTTGTATTTAGTGAGCCTATCTCTGTTGAAAAACTGAAACTTGCTGAGAAGTTGTTTTCTTATAAGCCCACAATAGCGACTGAATACTCCTTGGCACCTTCTCAGGCATAAGCATAGGCACGGCCCTGAAGTAGAGTTGTGGTCCTCAGTCTGACCCCATGGGATAGACCCTCTACCATTCGTAGAATCT... | GTGTCTGCTGTGATAGATGATAAAATTCCTACTGAAAATAGGACGGTGGGGCCAGTGAACAGTATCTGCTGTGATAGATGATAAAATCCTACTGAAAATAGGATGGTGGGGCCCCTCGGGTGTGGGTTGCTTTGTATTTAGTGAGCCTATCTCTGTTGAAAAACTGAAACTTGCTGAGAAGTTGTTTTCTTATAAGCCCACAATAGCGACTGAATACTCCTTGGCACCTTCTCAGGCATAAGCATAGGCACGGCCCTGAAGTAGAGTTGTGGTCCTCAGTCTGACCCCATGGGATAGACCCTCTACCATTCGTAGAATCT... | pathogenic | 88,667 |
Clinical significance of chromosome 5, position 225909, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Dilated_cardiomyopathy_1GG', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Neurodegeneration_with_ataxia_and_late-onset_optic_atrophy', 'Paragangliomas_5'] | ATAAAATTCCTACTGAAAATAGGACGGTGGGGCCAGTGAACAGTATCTGCTGTGATAGATGATAAAATCCTACTGAAAATAGGATGGTGGGGCCCCTCGGGTGTGGGTTGCTTTGTATTTAGTGAGCCTATCTCTGTTGAAAAACTGAAACTTGCTGAGAAGTTGTTTTCTTATAAGCCCACAATAGCGACTGAATACTCCTTGGCACCTTCTCAGGCATAAGCATAGGCACGGCCCTGAAGTAGAGTTGTGGTCCTCAGTCTGACCCCATGGGATAGACCCTCTACCATTCGTAGAATCTGATTGTCAGTCCCTTCTCC... | ATAAAATTCCTACTGAAAATAGGACGGTGGGGCCAGTGAACAGTATCTGCTGTGATAGATGATAAAATCCTACTGAAAATAGGATGGTGGGGCCCCTCGGGTGTGGGTTGCTTTGTATTTAGTGAGCCTATCTCTGTTGAAAAACTGAAACTTGCTGAGAAGTTGTTTTCTTATAAGCCCACAATAGCGACTGAATACTCCTTGGCACCTTCTCAGGCATAAGCATAGGCACGGCCCTGAAGTAGAGTTGTGGTCCTCAGTCTGACCCCATGGGATAGACCCTCTACCATTCGTAGAATCTGATTGTCAGTCCCTTCTCC... | pathogenic | 88,673 |
A genetic alteration at chromosome 5, position 225979, in gene SDHA (succinate dehydrogenase complex flavoprotein subunit A)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | TACTGAAAATAGGATGGTGGGGCCCCTCGGGTGTGGGTTGCTTTGTATTTAGTGAGCCTATCTCTGTTGAAAAACTGAAACTTGCTGAGAAGTTGTTTTCTTATAAGCCCACAATAGCGACTGAATACTCCTTGGCACCTTCTCAGGCATAAGCATAGGCACGGCCCTGAAGTAGAGTTGTGGTCCTCAGTCTGACCCCATGGGATAGACCCTCTACCATTCGTAGAATCTGATTGTCAGTCCCTTCTCCAGGTGCGAATGTGCCCACCTCTCCCCGAACTGTTCAGGGCTCAGCCCCAGGACAGGATGGAGGCCCTGTG... | TACTGAAAATAGGATGGTGGGGCCCCTCGGGTGTGGGTTGCTTTGTATTTAGTGAGCCTATCTCTGTTGAAAAACTGAAACTTGCTGAGAAGTTGTTTTCTTATAAGCCCACAATAGCGACTGAATACTCCTTGGCACCTTCTCAGGCATAAGCATAGGCACGGCCCTGAAGTAGAGTTGTGGTCCTCAGTCTGACCCCATGGGATAGACCCTCTACCATTCGTAGAATCTGATTGTCAGTCCCTTCTCCAGGTGCGAATGTGCCCACCTCTCCCCGAACTGTTCAGGGCTCAGCCCCAGGACAGGATGGAGGCCCTGTG... | pathogenic | 88,686 |
Variant in gene SDHA (succinate dehydrogenase complex flavoprotein subunit A), located at chromosome 5 position 228163: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | GGGTTAGCGTGCCCAGTGAGTCAGCCAGAGATTACGTAAAAAGCAACAGAGAACAGCAGCGTGGGGCGCATGCAGCGACTGTGGATGTGACAGGACCAGACGTGTGCCTTGAGGAGCTGTCCCTAAGGCAGTGTGTGACTTCTTGCATCTATGTCAGAAAGTTGAATCGATAATCTTACATACCAGGTTTTAACTTGGGATATGTGACACTCAACATACAAGAGCAGAGCAAGCAGGCCAGGCACAGTGGCTCAGGTCTGTAATCCCAGCACTTTAGGAGGCCAAGGCAGGAGGATCACTTGAGACCAGAAGTTTGAGAC... | GGGTTAGCGTGCCCAGTGAGTCAGCCAGAGATTACGTAAAAAGCAACAGAGAACAGCAGCGTGGGGCGCATGCAGCGACTGTGGATGTGACAGGACCAGACGTGTGCCTTGAGGAGCTGTCCCTAAGGCAGTGTGTGACTTCTTGCATCTATGTCAGAAAGTTGAATCGATAATCTTACATACCAGGTTTTAACTTGGGATATGTGACACTCAACATACAAGAGCAGAGCAAGCAGGCCAGGCACAGTGGCTCAGGTCTGTAATCCCAGCACTTTAGGAGGCCAAGGCAGGAGGATCACTTGAGACCAGAAGTTTGAGAC... | benign | 88,703 |
Evaluate if the mutation on chromosome 5 at position 228228 in SDHA (succinate dehydrogenase complex flavoprotein subunit A) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Dilated_cardiomyopathy_1GG', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5', 'SDHA-related_disorder'] | GCGCATGCAGCGACTGTGGATGTGACAGGACCAGACGTGTGCCTTGAGGAGCTGTCCCTAAGGCAGTGTGTGACTTCTTGCATCTATGTCAGAAAGTTGAATCGATAATCTTACATACCAGGTTTTAACTTGGGATATGTGACACTCAACATACAAGAGCAGAGCAAGCAGGCCAGGCACAGTGGCTCAGGTCTGTAATCCCAGCACTTTAGGAGGCCAAGGCAGGAGGATCACTTGAGACCAGAAGTTTGAGACCAGCCTGGACAACATAGCAAGACCCTGTCTCTACAAAAAGTTTAAAAATTAGCTGGGCATGGTGG... | GCGCATGCAGCGACTGTGGATGTGACAGGACCAGACGTGTGCCTTGAGGAGCTGTCCCTAAGGCAGTGTGTGACTTCTTGCATCTATGTCAGAAAGTTGAATCGATAATCTTACATACCAGGTTTTAACTTGGGATATGTGACACTCAACATACAAGAGCAGAGCAAGCAGGCCAGGCACAGTGGCTCAGGTCTGTAATCCCAGCACTTTAGGAGGCCAAGGCAGGAGGATCACTTGAGACCAGAAGTTTGAGACCAGCCTGGACAACATAGCAAGACCCTGTCTCTACAAAAAGTTTAAAAATTAGCTGGGCATGGTGG... | pathogenic | 88,717 |
A genetic variant on chromosome 5, position 228247, affects the gene SDHA (succinate dehydrogenase complex flavoprotein subunit A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Dilated_cardiomyopathy_1GG', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Neurodegeneration_with_ataxia_and_late-onset_optic_atrophy', 'Paragangliomas_5', 'SDHA-related_disorder'] | ATGTGACAGGACCAGACGTGTGCCTTGAGGAGCTGTCCCTAAGGCAGTGTGTGACTTCTTGCATCTATGTCAGAAAGTTGAATCGATAATCTTACATACCAGGTTTTAACTTGGGATATGTGACACTCAACATACAAGAGCAGAGCAAGCAGGCCAGGCACAGTGGCTCAGGTCTGTAATCCCAGCACTTTAGGAGGCCAAGGCAGGAGGATCACTTGAGACCAGAAGTTTGAGACCAGCCTGGACAACATAGCAAGACCCTGTCTCTACAAAAAGTTTAAAAATTAGCTGGGCATGGTGGTACATGCTTGTAATCCCAG... | ATGTGACAGGACCAGACGTGTGCCTTGAGGAGCTGTCCCTAAGGCAGTGTGTGACTTCTTGCATCTATGTCAGAAAGTTGAATCGATAATCTTACATACCAGGTTTTAACTTGGGATATGTGACACTCAACATACAAGAGCAGAGCAAGCAGGCCAGGCACAGTGGCTCAGGTCTGTAATCCCAGCACTTTAGGAGGCCAAGGCAGGAGGATCACTTGAGACCAGAAGTTTGAGACCAGCCTGGACAACATAGCAAGACCCTGTCTCTACAAAAAGTTTAAAAATTAGCTGGGCATGGTGGTACATGCTTGTAATCCCAG... | pathogenic | 88,722 |
Evaluate this variant at chromosome 5, position 228253, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | CAGGACCAGACGTGTGCCTTGAGGAGCTGTCCCTAAGGCAGTGTGTGACTTCTTGCATCTATGTCAGAAAGTTGAATCGATAATCTTACATACCAGGTTTTAACTTGGGATATGTGACACTCAACATACAAGAGCAGAGCAAGCAGGCCAGGCACAGTGGCTCAGGTCTGTAATCCCAGCACTTTAGGAGGCCAAGGCAGGAGGATCACTTGAGACCAGAAGTTTGAGACCAGCCTGGACAACATAGCAAGACCCTGTCTCTACAAAAAGTTTAAAAATTAGCTGGGCATGGTGGTACATGCTTGTAATCCCAGTTACTC... | CAGGACCAGACGTGTGCCTTGAGGAGCTGTCCCTAAGGCAGTGTGTGACTTCTTGCATCTATGTCAGAAAGTTGAATCGATAATCTTACATACCAGGTTTTAACTTGGGATATGTGACACTCAACATACAAGAGCAGAGCAAGCAGGCCAGGCACAGTGGCTCAGGTCTGTAATCCCAGCACTTTAGGAGGCCAAGGCAGGAGGATCACTTGAGACCAGAAGTTTGAGACCAGCCTGGACAACATAGCAAGACCCTGTCTCTACAAAAAGTTTAAAAATTAGCTGGGCATGGTGGTACATGCTTGTAATCCCAGTTACTC... | pathogenic | 88,724 |
A genetic variant on chromosome 5, position 228282, affects the gene SDHA (succinate dehydrogenase complex flavoprotein subunit A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | TCCCTAAGGCAGTGTGTGACTTCTTGCATCTATGTCAGAAAGTTGAATCGATAATCTTACATACCAGGTTTTAACTTGGGATATGTGACACTCAACATACAAGAGCAGAGCAAGCAGGCCAGGCACAGTGGCTCAGGTCTGTAATCCCAGCACTTTAGGAGGCCAAGGCAGGAGGATCACTTGAGACCAGAAGTTTGAGACCAGCCTGGACAACATAGCAAGACCCTGTCTCTACAAAAAGTTTAAAAATTAGCTGGGCATGGTGGTACATGCTTGTAATCCCAGTTACTCAGGAGGCTGAGGCTCCTGGATCACTTGAG... | TCCCTAAGGCAGTGTGTGACTTCTTGCATCTATGTCAGAAAGTTGAATCGATAATCTTACATACCAGGTTTTAACTTGGGATATGTGACACTCAACATACAAGAGCAGAGCAAGCAGGCCAGGCACAGTGGCTCAGGTCTGTAATCCCAGCACTTTAGGAGGCCAAGGCAGGAGGATCACTTGAGACCAGAAGTTTGAGACCAGCCTGGACAACATAGCAAGACCCTGTCTCTACAAAAAGTTTAAAAATTAGCTGGGCATGGTGGTACATGCTTGTAATCCCAGTTACTCAGGAGGCTGAGGCTCCTGGATCACTTGAG... | pathogenic | 88,728 |
Mutation found at chromosome 5 position 228318, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | AGAAAGTTGAATCGATAATCTTACATACCAGGTTTTAACTTGGGATATGTGACACTCAACATACAAGAGCAGAGCAAGCAGGCCAGGCACAGTGGCTCAGGTCTGTAATCCCAGCACTTTAGGAGGCCAAGGCAGGAGGATCACTTGAGACCAGAAGTTTGAGACCAGCCTGGACAACATAGCAAGACCCTGTCTCTACAAAAAGTTTAAAAATTAGCTGGGCATGGTGGTACATGCTTGTAATCCCAGTTACTCAGGAGGCTGAGGCTCCTGGATCACTTGAGACCAGGAGGTTGAGGCTACAGTGAGCCATGTTCGTA... | AGAAAGTTGAATCGATAATCTTACATACCAGGTTTTAACTTGGGATATGTGACACTCAACATACAAGAGCAGAGCAAGCAGGCCAGGCACAGTGGCTCAGGTCTGTAATCCCAGCACTTTAGGAGGCCAAGGCAGGAGGATCACTTGAGACCAGAAGTTTGAGACCAGCCTGGACAACATAGCAAGACCCTGTCTCTACAAAAAGTTTAAAAATTAGCTGGGCATGGTGGTACATGCTTGTAATCCCAGTTACTCAGGAGGCTGAGGCTCCTGGATCACTTGAGACCAGGAGGTTGAGGCTACAGTGAGCCATGTTCGTA... | pathogenic | 88,737 |
Assess the variant on chromosome 5, position 228323, impacting SDHA (succinate dehydrogenase complex flavoprotein subunit A): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Dilated_cardiomyopathy_1GG', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Neurodegeneration_with_ataxia_and_late-onset_optic_atrophy', 'Paragangliomas_5'] | GTTGAATCGATAATCTTACATACCAGGTTTTAACTTGGGATATGTGACACTCAACATACAAGAGCAGAGCAAGCAGGCCAGGCACAGTGGCTCAGGTCTGTAATCCCAGCACTTTAGGAGGCCAAGGCAGGAGGATCACTTGAGACCAGAAGTTTGAGACCAGCCTGGACAACATAGCAAGACCCTGTCTCTACAAAAAGTTTAAAAATTAGCTGGGCATGGTGGTACATGCTTGTAATCCCAGTTACTCAGGAGGCTGAGGCTCCTGGATCACTTGAGACCAGGAGGTTGAGGCTACAGTGAGCCATGTTCGTACCACT... | GTTGAATCGATAATCTTACATACCAGGTTTTAACTTGGGATATGTGACACTCAACATACAAGAGCAGAGCAAGCAGGCCAGGCACAGTGGCTCAGGTCTGTAATCCCAGCACTTTAGGAGGCCAAGGCAGGAGGATCACTTGAGACCAGAAGTTTGAGACCAGCCTGGACAACATAGCAAGACCCTGTCTCTACAAAAAGTTTAAAAATTAGCTGGGCATGGTGGTACATGCTTGTAATCCCAGTTACTCAGGAGGCTGAGGCTCCTGGATCACTTGAGACCAGGAGGTTGAGGCTACAGTGAGCCATGTTCGTACCACT... | pathogenic | 88,738 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 230879, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | AAGAAATATTTTCCAAACCATATGTGTAATAATATCTTACTATCTAAAATAGCAAAAAAAAAACCCTACTAAAAACAACCTACTAAACCCTACTAAAAAACAACCCTACTAAAAATGGGCAAAGGACTTGAATAGATATTTTTCTAGAGAAGACATACAAATGGCCAATTGATGTATGAAAAAATGCTCAACGTCACTAAGCACCAGAGAAATGCAAATTAAAACCCCAATGAGATATCATCTCATCTCGCTCCAGTTAGAATGACTGTTACCAAGAGGACAAAAGAGCAAGTGTTGGTGAGGATGTGGAGAAAAGGGAA... | AAGAAATATTTTCCAAACCATATGTGTAATAATATCTTACTATCTAAAATAGCAAAAAAAAAACCCTACTAAAAACAACCTACTAAACCCTACTAAAAAACAACCCTACTAAAAATGGGCAAAGGACTTGAATAGATATTTTTCTAGAGAAGACATACAAATGGCCAATTGATGTATGAAAAAATGCTCAACGTCACTAAGCACCAGAGAAATGCAAATTAAAACCCCAATGAGATATCATCTCATCTCGCTCCAGTTAGAATGACTGTTACCAAGAGGACAAAAGAGCAAGTGTTGGTGAGGATGTGGAGAAAAGGGAA... | pathogenic | 88,745 |
Classify the chromosome 5 variant at position 230889 affecting gene SDHA (succinate dehydrogenase complex flavoprotein subunit A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | TTCCAAACCATATGTGTAATAATATCTTACTATCTAAAATAGCAAAAAAAAAACCCTACTAAAAACAACCTACTAAACCCTACTAAAAAACAACCCTACTAAAAATGGGCAAAGGACTTGAATAGATATTTTTCTAGAGAAGACATACAAATGGCCAATTGATGTATGAAAAAATGCTCAACGTCACTAAGCACCAGAGAAATGCAAATTAAAACCCCAATGAGATATCATCTCATCTCGCTCCAGTTAGAATGACTGTTACCAAGAGGACAAAAGAGCAAGTGTTGGTGAGGATGTGGAGAAAAGGGAACCCTGTGTGC... | TTCCAAACCATATGTGTAATAATATCTTACTATCTAAAATAGCAAAAAAAAAACCCTACTAAAAACAACCTACTAAACCCTACTAAAAAACAACCCTACTAAAAATGGGCAAAGGACTTGAATAGATATTTTTCTAGAGAAGACATACAAATGGCCAATTGATGTATGAAAAAATGCTCAACGTCACTAAGCACCAGAGAAATGCAAATTAAAACCCCAATGAGATATCATCTCATCTCGCTCCAGTTAGAATGACTGTTACCAAGAGGACAAAAGAGCAAGTGTTGGTGAGGATGTGGAGAAAAGGGAACCCTGTGTGC... | pathogenic | 88,748 |
Mutation at chromosome 5, position 230999, within SDHA (succinate dehydrogenase complex flavoprotein subunit A): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | AAAGGACTTGAATAGATATTTTTCTAGAGAAGACATACAAATGGCCAATTGATGTATGAAAAAATGCTCAACGTCACTAAGCACCAGAGAAATGCAAATTAAAACCCCAATGAGATATCATCTCATCTCGCTCCAGTTAGAATGACTGTTACCAAGAGGACAAAAGAGCAAGTGTTGGTGAGGATGTGGAGAAAAGGGAACCCTGTGTGCTGTTGGTGGGAATGTAAATTAGTACAACTATTACGGAAAACTCTGGAGGTTCCTCAAAATTCATAGGACTACTATGTGCTCCAGCAACCCCATTTCTGGGTGTATATCCA... | AAAGGACTTGAATAGATATTTTTCTAGAGAAGACATACAAATGGCCAATTGATGTATGAAAAAATGCTCAACGTCACTAAGCACCAGAGAAATGCAAATTAAAACCCCAATGAGATATCATCTCATCTCGCTCCAGTTAGAATGACTGTTACCAAGAGGACAAAAGAGCAAGTGTTGGTGAGGATGTGGAGAAAAGGGAACCCTGTGTGCTGTTGGTGGGAATGTAAATTAGTACAACTATTACGGAAAACTCTGGAGGTTCCTCAAAATTCATAGGACTACTATGTGCTCCAGCAACCCCATTTCTGGGTGTATATCCA... | pathogenic | 88,774 |
Chromosome 5, position 233522, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_5'] | TGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGTAAAGCAGGGATTGTTCAGTGTCCCTCTTCGCAACGAGGTCGTCAGCTCCTCGGGCAGGCAGGTCTTCTCGTTAGCTGTGGTGCTCCATGCCCAGCACATGGTAGGGTCTCCACCGGGGTTTACTGAGTGAACATTCTGAGAGCTGGGAGAATGCCATGGAACCGAGAAGCAGCACAGGCAGACTTCAGCTTTGTAGGAGAACACGGAGCTTCT... | TGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGTAAAGCAGGGATTGTTCAGTGTCCCTCTTCGCAACGAGGTCGTCAGCTCCTCGGGCAGGCAGGTCTTCTCGTTAGCTGTGGTGCTCCATGCCCAGCACATGGTAGGGTCTCCACCGGGGTTTACTGAGTGAACATTCTGAGAGCTGGGAGAATGCCATGGAACCGAGAAGCAGCACAGGCAGACTTCAGCTTTGTAGGAGAACACGGAGCTTCT... | pathogenic | 88,783 |
A genetic alteration at chromosome 5, position 233570, in gene SDHA (succinate dehydrogenase complex flavoprotein subunit A)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | TGCACTCCAGCCTGGGCAACAGAGTAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGTAAAGCAGGGATTGTTCAGTGTCCCTCTTCGCAACGAGGTCGTCAGCTCCTCGGGCAGGCAGGTCTTCTCGTTAGCTGTGGTGCTCCATGCCCAGCACATGGTAGGGTCTCCACCGGGGTTTACTGAGTGAACATTCTGAGAGCTGGGAGAATGCCATGGAACCGAGAAGCAGCACAGGCAGACTTCAGCTTTGTAGGAGAACACGGAGCTTCTGTGACAATGGGATGTAAAGTTAGGACGCAGCCGTGACAGAACCCCATG... | TGCACTCCAGCCTGGGCAACAGAGTAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGTAAAGCAGGGATTGTTCAGTGTCCCTCTTCGCAACGAGGTCGTCAGCTCCTCGGGCAGGCAGGTCTTCTCGTTAGCTGTGGTGCTCCATGCCCAGCACATGGTAGGGTCTCCACCGGGGTTTACTGAGTGAACATTCTGAGAGCTGGGAGAATGCCATGGAACCGAGAAGCAGCACAGGCAGACTTCAGCTTTGTAGGAGAACACGGAGCTTCTGTGACAATGGGATGTAAAGTTAGGACGCAGCCGTGACAGAACCCCATG... | pathogenic | 88,796 |
A genetic variant on chromosome 5, position 233575, affects the gene SDHA (succinate dehydrogenase complex flavoprotein subunit A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Dilated_cardiomyopathy_1GG', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | TCCAGCCTGGGCAACAGAGTAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGTAAAGCAGGGATTGTTCAGTGTCCCTCTTCGCAACGAGGTCGTCAGCTCCTCGGGCAGGCAGGTCTTCTCGTTAGCTGTGGTGCTCCATGCCCAGCACATGGTAGGGTCTCCACCGGGGTTTACTGAGTGAACATTCTGAGAGCTGGGAGAATGCCATGGAACCGAGAAGCAGCACAGGCAGACTTCAGCTTTGTAGGAGAACACGGAGCTTCTGTGACAATGGGATGTAAAGTTAGGACGCAGCCGTGACAGAACCCCATGTGACA... | TCCAGCCTGGGCAACAGAGTAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGTAAAGCAGGGATTGTTCAGTGTCCCTCTTCGCAACGAGGTCGTCAGCTCCTCGGGCAGGCAGGTCTTCTCGTTAGCTGTGGTGCTCCATGCCCAGCACATGGTAGGGTCTCCACCGGGGTTTACTGAGTGAACATTCTGAGAGCTGGGAGAATGCCATGGAACCGAGAAGCAGCACAGGCAGACTTCAGCTTTGTAGGAGAACACGGAGCTTCTGTGACAATGGGATGTAAAGTTAGGACGCAGCCGTGACAGAACCCCATGTGACA... | pathogenic | 88,800 |
Is the chromosome 5, position 233591 variant in SDHA (succinate dehydrogenase complex flavoprotein subunit A) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Dilated_cardiomyopathy_1GG', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Neurodegeneration_with_ataxia_and_late-onset_optic_atrophy', 'Paragangliomas_5'] | GAGTAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGTAAAGCAGGGATTGTTCAGTGTCCCTCTTCGCAACGAGGTCGTCAGCTCCTCGGGCAGGCAGGTCTTCTCGTTAGCTGTGGTGCTCCATGCCCAGCACATGGTAGGGTCTCCACCGGGGTTTACTGAGTGAACATTCTGAGAGCTGGGAGAATGCCATGGAACCGAGAAGCAGCACAGGCAGACTTCAGCTTTGTAGGAGAACACGGAGCTTCTGTGACAATGGGATGTAAAGTTAGGACGCAGCCGTGACAGAACCCCATGTGACATTGGGCGCTGGGCTCA... | GAGTAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGTAAAGCAGGGATTGTTCAGTGTCCCTCTTCGCAACGAGGTCGTCAGCTCCTCGGGCAGGCAGGTCTTCTCGTTAGCTGTGGTGCTCCATGCCCAGCACATGGTAGGGTCTCCACCGGGGTTTACTGAGTGAACATTCTGAGAGCTGGGAGAATGCCATGGAACCGAGAAGCAGCACAGGCAGACTTCAGCTTTGTAGGAGAACACGGAGCTTCTGTGACAATGGGATGTAAAGTTAGGACGCAGCCGTGACAGAACCCCATGTGACATTGGGCGCTGGGCTCA... | pathogenic | 88,806 |
The genetic variant at chromosome 5, position 233623, affecting gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | AAAAGTAAAGCAGGGATTGTTCAGTGTCCCTCTTCGCAACGAGGTCGTCAGCTCCTCGGGCAGGCAGGTCTTCTCGTTAGCTGTGGTGCTCCATGCCCAGCACATGGTAGGGTCTCCACCGGGGTTTACTGAGTGAACATTCTGAGAGCTGGGAGAATGCCATGGAACCGAGAAGCAGCACAGGCAGACTTCAGCTTTGTAGGAGAACACGGAGCTTCTGTGACAATGGGATGTAAAGTTAGGACGCAGCCGTGACAGAACCCCATGTGACATTGGGCGCTGGGCTCAGCCCACGTGACCACTGAGAGAGCTTGTCGTGG... | AAAAGTAAAGCAGGGATTGTTCAGTGTCCCTCTTCGCAACGAGGTCGTCAGCTCCTCGGGCAGGCAGGTCTTCTCGTTAGCTGTGGTGCTCCATGCCCAGCACATGGTAGGGTCTCCACCGGGGTTTACTGAGTGAACATTCTGAGAGCTGGGAGAATGCCATGGAACCGAGAAGCAGCACAGGCAGACTTCAGCTTTGTAGGAGAACACGGAGCTTCTGTGACAATGGGATGTAAAGTTAGGACGCAGCCGTGACAGAACCCCATGTGACATTGGGCGCTGGGCTCAGCCCACGTGACCACTGAGAGAGCTTGTCGTGG... | pathogenic | 88,815 |
Variant in SDHA (succinate dehydrogenase complex flavoprotein subunit A), chromosome 5, position 233633—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CAGGGATTGTTCAGTGTCCCTCTTCGCAACGAGGTCGTCAGCTCCTCGGGCAGGCAGGTCTTCTCGTTAGCTGTGGTGCTCCATGCCCAGCACATGGTAGGGTCTCCACCGGGGTTTACTGAGTGAACATTCTGAGAGCTGGGAGAATGCCATGGAACCGAGAAGCAGCACAGGCAGACTTCAGCTTTGTAGGAGAACACGGAGCTTCTGTGACAATGGGATGTAAAGTTAGGACGCAGCCGTGACAGAACCCCATGTGACATTGGGCGCTGGGCTCAGCCCACGTGACCACTGAGAGAGCTTGTCGTGGGGAAGATGAG... | CAGGGATTGTTCAGTGTCCCTCTTCGCAACGAGGTCGTCAGCTCCTCGGGCAGGCAGGTCTTCTCGTTAGCTGTGGTGCTCCATGCCCAGCACATGGTAGGGTCTCCACCGGGGTTTACTGAGTGAACATTCTGAGAGCTGGGAGAATGCCATGGAACCGAGAAGCAGCACAGGCAGACTTCAGCTTTGTAGGAGAACACGGAGCTTCTGTGACAATGGGATGTAAAGTTAGGACGCAGCCGTGACAGAACCCCATGTGACATTGGGCGCTGGGCTCAGCCCACGTGACCACTGAGAGAGCTTGTCGTGGGGAAGATGAG... | pathogenic | 88,818 |
A mutation at chromosome position 235269 on chromosome 5 in gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | AGGTCTGTGGGCCGGCCTTTCTCCTCTCTGGGGACACCGCTCTGCCCCAGCCTCTGCTGCAGCTGTCAGCCTTGTCAGTGCTTTTTGTTATCCAGACTTTCTACTGTATCTTAACTGTCTTGCTGTGCAGTTTTGCACATAATGCCTTCTGCTTATCTTTTTCCTCTTTCCCCCAAAAAATGTCTTGAAAAAAATAATGCATTTGAAATAGAGATCTAGCAATTGTTAGGTAATAAATATGTGTGGTTTTTTGCAGGCATATATGGTGCTGGTTGTCTCATTACGGAAGGATGTCGTGGAGAGGGAGGCATTCTCATTAA... | AGGTCTGTGGGCCGGCCTTTCTCCTCTCTGGGGACACCGCTCTGCCCCAGCCTCTGCTGCAGCTGTCAGCCTTGTCAGTGCTTTTTGTTATCCAGACTTTCTACTGTATCTTAACTGTCTTGCTGTGCAGTTTTGCACATAATGCCTTCTGCTTATCTTTTTCCTCTTTCCCCCAAAAAATGTCTTGAAAAAAATAATGCATTTGAAATAGAGATCTAGCAATTGTTAGGTAATAAATATGTGTGGTTTTTTGCAGGCATATATGGTGCTGGTTGTCTCATTACGGAAGGATGTCGTGGAGAGGGAGGCATTCTCATTAA... | pathogenic | 88,859 |
Clinical significance of chromosome 5, position 235322, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | CTGCTGCAGCTGTCAGCCTTGTCAGTGCTTTTTGTTATCCAGACTTTCTACTGTATCTTAACTGTCTTGCTGTGCAGTTTTGCACATAATGCCTTCTGCTTATCTTTTTCCTCTTTCCCCCAAAAAATGTCTTGAAAAAAATAATGCATTTGAAATAGAGATCTAGCAATTGTTAGGTAATAAATATGTGTGGTTTTTTGCAGGCATATATGGTGCTGGTTGTCTCATTACGGAAGGATGTCGTGGAGAGGGAGGCATTCTCATTAACAGTCAAGGCGAAAGGTTTATGGAGCGATACGCCCCTGTCGCGAAGGACCTGG... | CTGCTGCAGCTGTCAGCCTTGTCAGTGCTTTTTGTTATCCAGACTTTCTACTGTATCTTAACTGTCTTGCTGTGCAGTTTTGCACATAATGCCTTCTGCTTATCTTTTTCCTCTTTCCCCCAAAAAATGTCTTGAAAAAAATAATGCATTTGAAATAGAGATCTAGCAATTGTTAGGTAATAAATATGTGTGGTTTTTTGCAGGCATATATGGTGCTGGTTGTCTCATTACGGAAGGATGTCGTGGAGAGGGAGGCATTCTCATTAACAGTCAAGGCGAAAGGTTTATGGAGCGATACGCCCCTGTCGCGAAGGACCTGG... | pathogenic | 88,876 |
Evaluate if the mutation on chromosome 5 at position 235332 in SDHA (succinate dehydrogenase complex flavoprotein subunit A) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_5'] | TGTCAGCCTTGTCAGTGCTTTTTGTTATCCAGACTTTCTACTGTATCTTAACTGTCTTGCTGTGCAGTTTTGCACATAATGCCTTCTGCTTATCTTTTTCCTCTTTCCCCCAAAAAATGTCTTGAAAAAAATAATGCATTTGAAATAGAGATCTAGCAATTGTTAGGTAATAAATATGTGTGGTTTTTTGCAGGCATATATGGTGCTGGTTGTCTCATTACGGAAGGATGTCGTGGAGAGGGAGGCATTCTCATTAACAGTCAAGGCGAAAGGTTTATGGAGCGATACGCCCCTGTCGCGAAGGACCTGGCGTCTAGAGA... | TGTCAGCCTTGTCAGTGCTTTTTGTTATCCAGACTTTCTACTGTATCTTAACTGTCTTGCTGTGCAGTTTTGCACATAATGCCTTCTGCTTATCTTTTTCCTCTTTCCCCCAAAAAATGTCTTGAAAAAAATAATGCATTTGAAATAGAGATCTAGCAATTGTTAGGTAATAAATATGTGTGGTTTTTTGCAGGCATATATGGTGCTGGTTGTCTCATTACGGAAGGATGTCGTGGAGAGGGAGGCATTCTCATTAACAGTCAAGGCGAAAGGTTTATGGAGCGATACGCCCCTGTCGCGAAGGACCTGGCGTCTAGAGA... | pathogenic | 88,877 |
The genetic variant at chromosome 5, position 236446, affecting gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Dilated_cardiomyopathy_1GG', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | GACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACAGAGAAGTCAAATGGTTTTTTGGAATATGGTGGCCCTCCGTACCCATTGGTTCCACATGTGTGGTTTCAGCCAACTATGTATTGAAAATAAAATTGCATCCTTACAAATATGCAGACTTTTTTTCCTTGTCATTGTTCCCTTAACAATACAGTGTAACAGCTATTTACGTAGCATTTACATTGTATTAGGTACTATGAGTCATCCTGGAGTTGCTGTAAAACTTAAACGTAAAACTTGAAATGAGGATGATTTAAAGTATAGAGGAGGATGT... | GACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACAGAGAAGTCAAATGGTTTTTTGGAATATGGTGGCCCTCCGTACCCATTGGTTCCACATGTGTGGTTTCAGCCAACTATGTATTGAAAATAAAATTGCATCCTTACAAATATGCAGACTTTTTTTCCTTGTCATTGTTCCCTTAACAATACAGTGTAACAGCTATTTACGTAGCATTTACATTGTATTAGGTACTATGAGTCATCCTGGAGTTGCTGTAAAACTTAAACGTAAAACTTGAAATGAGGATGATTTAAAGTATAGAGGAGGATGT... | pathogenic | 88,891 |
Assess the variant on chromosome 5, position 236504, impacting SDHA (succinate dehydrogenase complex flavoprotein subunit A): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | AATGGTTTTTTGGAATATGGTGGCCCTCCGTACCCATTGGTTCCACATGTGTGGTTTCAGCCAACTATGTATTGAAAATAAAATTGCATCCTTACAAATATGCAGACTTTTTTTCCTTGTCATTGTTCCCTTAACAATACAGTGTAACAGCTATTTACGTAGCATTTACATTGTATTAGGTACTATGAGTCATCCTGGAGTTGCTGTAAAACTTAAACGTAAAACTTGAAATGAGGATGATTTAAAGTATAGAGGAGGATGTGCATAGGTTATATGCAAATACTCTCCCATTTTATATTAGGGACTTGAGCATCCACGGA... | AATGGTTTTTTGGAATATGGTGGCCCTCCGTACCCATTGGTTCCACATGTGTGGTTTCAGCCAACTATGTATTGAAAATAAAATTGCATCCTTACAAATATGCAGACTTTTTTTCCTTGTCATTGTTCCCTTAACAATACAGTGTAACAGCTATTTACGTAGCATTTACATTGTATTAGGTACTATGAGTCATCCTGGAGTTGCTGTAAAACTTAAACGTAAAACTTGAAATGAGGATGATTTAAAGTATAGAGGAGGATGTGCATAGGTTATATGCAAATACTCTCCCATTTTATATTAGGGACTTGAGCATCCACGGA... | pathogenic | 88,908 |
Gene mutation in SDHA (succinate dehydrogenase complex flavoprotein subunit A) at chromosome 5, position 236598—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Dilated_cardiomyopathy_1GG', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Neurodegeneration_with_ataxia_and_late-onset_optic_atrophy', 'Paraganglioma', 'Paragangliomas_5', 'Pheochromocytoma'] | CAAATATGCAGACTTTTTTTCCTTGTCATTGTTCCCTTAACAATACAGTGTAACAGCTATTTACGTAGCATTTACATTGTATTAGGTACTATGAGTCATCCTGGAGTTGCTGTAAAACTTAAACGTAAAACTTGAAATGAGGATGATTTAAAGTATAGAGGAGGATGTGCATAGGTTATATGCAAATACTCTCCCATTTTATATTAGGGACTTGAGCATCCACGGATTTTGGTATCCGTGGGGGTCCTGGACCCAACCTGCCACGGATACGCAGGGACGACTGTATTTGGCATAGAGGCCTTTCTAATGCACTTACCAAG... | CAAATATGCAGACTTTTTTTCCTTGTCATTGTTCCCTTAACAATACAGTGTAACAGCTATTTACGTAGCATTTACATTGTATTAGGTACTATGAGTCATCCTGGAGTTGCTGTAAAACTTAAACGTAAAACTTGAAATGAGGATGATTTAAAGTATAGAGGAGGATGTGCATAGGTTATATGCAAATACTCTCCCATTTTATATTAGGGACTTGAGCATCCACGGATTTTGGTATCCGTGGGGGTCCTGGACCCAACCTGCCACGGATACGCAGGGACGACTGTATTTGGCATAGAGGCCTTTCTAATGCACTTACCAAG... | pathogenic | 88,926 |
Does the genetic variant at chromosome 5, position 236600, impacting gene SDHA (succinate dehydrogenase complex flavoprotein subunit A), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Dilated_cardiomyopathy_1GG', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | AATATGCAGACTTTTTTTCCTTGTCATTGTTCCCTTAACAATACAGTGTAACAGCTATTTACGTAGCATTTACATTGTATTAGGTACTATGAGTCATCCTGGAGTTGCTGTAAAACTTAAACGTAAAACTTGAAATGAGGATGATTTAAAGTATAGAGGAGGATGTGCATAGGTTATATGCAAATACTCTCCCATTTTATATTAGGGACTTGAGCATCCACGGATTTTGGTATCCGTGGGGGTCCTGGACCCAACCTGCCACGGATACGCAGGGACGACTGTATTTGGCATAGAGGCCTTTCTAATGCACTTACCAAGGA... | AATATGCAGACTTTTTTTCCTTGTCATTGTTCCCTTAACAATACAGTGTAACAGCTATTTACGTAGCATTTACATTGTATTAGGTACTATGAGTCATCCTGGAGTTGCTGTAAAACTTAAACGTAAAACTTGAAATGAGGATGATTTAAAGTATAGAGGAGGATGTGCATAGGTTATATGCAAATACTCTCCCATTTTATATTAGGGACTTGAGCATCCACGGATTTTGGTATCCGTGGGGGTCCTGGACCCAACCTGCCACGGATACGCAGGGACGACTGTATTTGGCATAGAGGCCTTTCTAATGCACTTACCAAGGA... | pathogenic | 88,929 |
Variant chromosome 5, position 240400, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | AAAAATGAAAAGGAAAGAAAAAATGCTTGTAGCATCACTATTCTCCCCCAAAACCCCCTGCAAAAAAAAATACATATATATACACATATATATGTATTTTTTTTTTTTAAGAGATAGTCTCCCTCTGTCGCCCAGGCTGTAGTGCAGTGGTACGATCAGGTGCACACCACCACACCTGGCTAATTTTTAAAAATGTTTTGTAGGGACAGGGTCTCCCTGTGTTGCCCAGGATGGGCTTGAACTCCTGGCCTCAAGTGTTCCTCCTGTCTCAGCCTCCCGAAGTGGTTACATGCGCCTATACATGTGTTAAAATTGGTAGA... | AAAAATGAAAAGGAAAGAAAAAATGCTTGTAGCATCACTATTCTCCCCCAAAACCCCCTGCAAAAAAAAATACATATATATACACATATATATGTATTTTTTTTTTTTAAGAGATAGTCTCCCTCTGTCGCCCAGGCTGTAGTGCAGTGGTACGATCAGGTGCACACCACCACACCTGGCTAATTTTTAAAAATGTTTTGTAGGGACAGGGTCTCCCTGTGTTGCCCAGGATGGGCTTGAACTCCTGGCCTCAAGTGTTCCTCCTGTCTCAGCCTCCCGAAGTGGTTACATGCGCCTATACATGTGTTAAAATTGGTAGA... | pathogenic | 88,940 |
Clinical classification of chromosome 5, position 240417, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | AAAAAATGCTTGTAGCATCACTATTCTCCCCCAAAACCCCCTGCAAAAAAAAATACATATATATACACATATATATGTATTTTTTTTTTTTAAGAGATAGTCTCCCTCTGTCGCCCAGGCTGTAGTGCAGTGGTACGATCAGGTGCACACCACCACACCTGGCTAATTTTTAAAAATGTTTTGTAGGGACAGGGTCTCCCTGTGTTGCCCAGGATGGGCTTGAACTCCTGGCCTCAAGTGTTCCTCCTGTCTCAGCCTCCCGAAGTGGTTACATGCGCCTATACATGTGTTAAAATTGGTAGAACTGAGGCTGGGTGCAG... | AAAAAATGCTTGTAGCATCACTATTCTCCCCCAAAACCCCCTGCAAAAAAAAATACATATATATACACATATATATGTATTTTTTTTTTTTAAGAGATAGTCTCCCTCTGTCGCCCAGGCTGTAGTGCAGTGGTACGATCAGGTGCACACCACCACACCTGGCTAATTTTTAAAAATGTTTTGTAGGGACAGGGTCTCCCTGTGTTGCCCAGGATGGGCTTGAACTCCTGGCCTCAAGTGTTCCTCCTGTCTCAGCCTCCCGAAGTGGTTACATGCGCCTATACATGTGTTAAAATTGGTAGAACTGAGGCTGGGTGCAG... | pathogenic | 88,943 |
Is chromosome 5, position 240451, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Dilated_cardiomyopathy_1GG', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5', 'SDHA-related_disorder'] | AACCCCCTGCAAAAAAAAATACATATATATACACATATATATGTATTTTTTTTTTTTAAGAGATAGTCTCCCTCTGTCGCCCAGGCTGTAGTGCAGTGGTACGATCAGGTGCACACCACCACACCTGGCTAATTTTTAAAAATGTTTTGTAGGGACAGGGTCTCCCTGTGTTGCCCAGGATGGGCTTGAACTCCTGGCCTCAAGTGTTCCTCCTGTCTCAGCCTCCCGAAGTGGTTACATGCGCCTATACATGTGTTAAAATTGGTAGAACTGAGGCTGGGTGCAGTGGCTCACGCCTATAATCCCACCGCTTTGGGAGG... | AACCCCCTGCAAAAAAAAATACATATATATACACATATATATGTATTTTTTTTTTTTAAGAGATAGTCTCCCTCTGTCGCCCAGGCTGTAGTGCAGTGGTACGATCAGGTGCACACCACCACACCTGGCTAATTTTTAAAAATGTTTTGTAGGGACAGGGTCTCCCTGTGTTGCCCAGGATGGGCTTGAACTCCTGGCCTCAAGTGTTCCTCCTGTCTCAGCCTCCCGAAGTGGTTACATGCGCCTATACATGTGTTAAAATTGGTAGAACTGAGGCTGGGTGCAGTGGCTCACGCCTATAATCCCACCGCTTTGGGAGG... | pathogenic | 88,948 |
Evaluate this variant at chromosome 5, position 251017, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Dilated_cardiomyopathy_1GG', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Neurodegeneration_with_ataxia_and_late-onset_optic_atrophy', 'Paragangliomas_5'] | TAGCTCTTAATAAGATCAAAATTTGGGAAAGAATAAAAAAGCATCTAGAAGGACACCGTACAAACTTGTCTTTGGATATTGCAAAATTGAAAGAACAGATATTTGAAGCATCCCAGCACACCTGACCTTAATGCCAGGAACTGGAGTGCTTGAAGGAGCTGCAGACAGATTAGCAGCTGGTAATCCATTAAAATGGATAAAAACACTTGGAAGCTCTGTGATTTCAATGAAGATTGTGCTTTTAATCTGTGTTATTTGTATAGTCTGCAGATGTGGATCCTGACTCTGCAAGAAGTAGCTCACCGTAACAAAGCTGCCTT... | TAGCTCTTAATAAGATCAAAATTTGGGAAAGAATAAAAAAGCATCTAGAAGGACACCGTACAAACTTGTCTTTGGATATTGCAAAATTGAAAGAACAGATATTTGAAGCATCCCAGCACACCTGACCTTAATGCCAGGAACTGGAGTGCTTGAAGGAGCTGCAGACAGATTAGCAGCTGGTAATCCATTAAAATGGATAAAAACACTTGGAAGCTCTGTGATTTCAATGAAGATTGTGCTTTTAATCTGTGTTATTTGTATAGTCTGCAGATGTGGATCCTGACTCTGCAAGAAGTAGCTCACCGTAACAAAGCTGCCTT... | pathogenic | 88,964 |
Is the genetic variant on chromosome 5, position 251051, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Dilated_cardiomyopathy_1GG', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | AAAAAAGCATCTAGAAGGACACCGTACAAACTTGTCTTTGGATATTGCAAAATTGAAAGAACAGATATTTGAAGCATCCCAGCACACCTGACCTTAATGCCAGGAACTGGAGTGCTTGAAGGAGCTGCAGACAGATTAGCAGCTGGTAATCCATTAAAATGGATAAAAACACTTGGAAGCTCTGTGATTTCAATGAAGATTGTGCTTTTAATCTGTGTTATTTGTATAGTCTGCAGATGTGGATCCTGACTCTGCAAGAAGTAGCTCACCGTAACAAAGCTGCCTTTGCTTTTATCACTTTGCAAAACAAATAAAGGGGA... | AAAAAAGCATCTAGAAGGACACCGTACAAACTTGTCTTTGGATATTGCAAAATTGAAAGAACAGATATTTGAAGCATCCCAGCACACCTGACCTTAATGCCAGGAACTGGAGTGCTTGAAGGAGCTGCAGACAGATTAGCAGCTGGTAATCCATTAAAATGGATAAAAACACTTGGAAGCTCTGTGATTTCAATGAAGATTGTGCTTTTAATCTGTGTTATTTGTATAGTCTGCAGATGTGGATCCTGACTCTGCAAGAAGTAGCTCACCGTAACAAAGCTGCCTTTGCTTTTATCACTTTGCAAAACAAATAAAGGGGA... | pathogenic | 88,974 |
Variant in gene SDHA (succinate dehydrogenase complex flavoprotein subunit A), located at chromosome 5 position 251339: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_5'] | CTTTTATCACTTTGCAAAACAAATAAAGGGGACACGTTGGGAACAGGCCCCCCAATGTGGCCATAAACTGTCCCCAAAACTGGCCATAAACAAAATCTCTGCAGCACTCTGACATGCTCTTGATGGCCATGATGCCCACGCTGGAAGGTTGTCGGTTTACTGGAATGAGGGCAAGGGACACCTGGCCCACCCAGGGTGGAAAACCGTTTAAGGCATTCTTAAACCACAAACAATAGCATGAGCGATCTGTGCCTTAAGGACATTTTCCTGCTGCAGATAACTAGCCAGAGCCCATCCTTTTGTTTCCCGTAAGGAATACT... | CTTTTATCACTTTGCAAAACAAATAAAGGGGACACGTTGGGAACAGGCCCCCCAATGTGGCCATAAACTGTCCCCAAAACTGGCCATAAACAAAATCTCTGCAGCACTCTGACATGCTCTTGATGGCCATGATGCCCACGCTGGAAGGTTGTCGGTTTACTGGAATGAGGGCAAGGGACACCTGGCCCACCCAGGGTGGAAAACCGTTTAAGGCATTCTTAAACCACAAACAATAGCATGAGCGATCTGTGCCTTAAGGACATTTTCCTGCTGCAGATAACTAGCCAGAGCCCATCCTTTTGTTTCCCGTAAGGAATACT... | pathogenic | 88,999 |
Variant at chromosome 5, position 251389, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | CCCAATGTGGCCATAAACTGTCCCCAAAACTGGCCATAAACAAAATCTCTGCAGCACTCTGACATGCTCTTGATGGCCATGATGCCCACGCTGGAAGGTTGTCGGTTTACTGGAATGAGGGCAAGGGACACCTGGCCCACCCAGGGTGGAAAACCGTTTAAGGCATTCTTAAACCACAAACAATAGCATGAGCGATCTGTGCCTTAAGGACATTTTCCTGCTGCAGATAACTAGCCAGAGCCCATCCTTTTGTTTCCCGTAAGGAATACTTTTAGTAAATCTTATCACTGGCTTGCTGTCAATAAATATGTGGGTAAATC... | CCCAATGTGGCCATAAACTGTCCCCAAAACTGGCCATAAACAAAATCTCTGCAGCACTCTGACATGCTCTTGATGGCCATGATGCCCACGCTGGAAGGTTGTCGGTTTACTGGAATGAGGGCAAGGGACACCTGGCCCACCCAGGGTGGAAAACCGTTTAAGGCATTCTTAAACCACAAACAATAGCATGAGCGATCTGTGCCTTAAGGACATTTTCCTGCTGCAGATAACTAGCCAGAGCCCATCCTTTTGTTTCCCGTAAGGAATACTTTTAGTAAATCTTATCACTGGCTTGCTGTCAATAAATATGTGGGTAAATC... | pathogenic | 89,008 |
Gene SDHA (succinate dehydrogenase complex flavoprotein subunit A) variant at chromosome position 251426 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Dilated_cardiomyopathy_1GG', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Neurodegeneration_with_ataxia_and_late-onset_optic_atrophy', 'Paragangliomas_5'] | AAACAAAATCTCTGCAGCACTCTGACATGCTCTTGATGGCCATGATGCCCACGCTGGAAGGTTGTCGGTTTACTGGAATGAGGGCAAGGGACACCTGGCCCACCCAGGGTGGAAAACCGTTTAAGGCATTCTTAAACCACAAACAATAGCATGAGCGATCTGTGCCTTAAGGACATTTTCCTGCTGCAGATAACTAGCCAGAGCCCATCCTTTTGTTTCCCGTAAGGAATACTTTTAGTAAATCTTATCACTGGCTTGCTGTCAATAAATATGTGGGTAAATCTCTGTTCAAGGCTCTCAGCTCTGAAGGCTGTAAGACC... | AAACAAAATCTCTGCAGCACTCTGACATGCTCTTGATGGCCATGATGCCCACGCTGGAAGGTTGTCGGTTTACTGGAATGAGGGCAAGGGACACCTGGCCCACCCAGGGTGGAAAACCGTTTAAGGCATTCTTAAACCACAAACAATAGCATGAGCGATCTGTGCCTTAAGGACATTTTCCTGCTGCAGATAACTAGCCAGAGCCCATCCTTTTGTTTCCCGTAAGGAATACTTTTAGTAAATCTTATCACTGGCTTGCTGTCAATAAATATGTGGGTAAATCTCTGTTCAAGGCTCTCAGCTCTGAAGGCTGTAAGACC... | pathogenic | 89,018 |
Does the chromosome 5 mutation at position 251427 within gene SDHA (succinate dehydrogenase complex flavoprotein subunit A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Mitochondrial_complex_II_deficiency,_nuclear_type_1', 'Paragangliomas_5'] | AACAAAATCTCTGCAGCACTCTGACATGCTCTTGATGGCCATGATGCCCACGCTGGAAGGTTGTCGGTTTACTGGAATGAGGGCAAGGGACACCTGGCCCACCCAGGGTGGAAAACCGTTTAAGGCATTCTTAAACCACAAACAATAGCATGAGCGATCTGTGCCTTAAGGACATTTTCCTGCTGCAGATAACTAGCCAGAGCCCATCCTTTTGTTTCCCGTAAGGAATACTTTTAGTAAATCTTATCACTGGCTTGCTGTCAATAAATATGTGGGTAAATCTCTGTTCAAGGCTCTCAGCTCTGAAGGCTGTAAGACCC... | AACAAAATCTCTGCAGCACTCTGACATGCTCTTGATGGCCATGATGCCCACGCTGGAAGGTTGTCGGTTTACTGGAATGAGGGCAAGGGACACCTGGCCCACCCAGGGTGGAAAACCGTTTAAGGCATTCTTAAACCACAAACAATAGCATGAGCGATCTGTGCCTTAAGGACATTTTCCTGCTGCAGATAACTAGCCAGAGCCCATCCTTTTGTTTCCCGTAAGGAATACTTTTAGTAAATCTTATCACTGGCTTGCTGTCAATAAATATGTGGGTAAATCTCTGTTCAAGGCTCTCAGCTCTGAAGGCTGTAAGACCC... | pathogenic | 89,020 |
Clinically, how would you classify the variant at chromosome 5, position 254429, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Dilated_cardiomyopathy_1GG', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_5'] | GTGGAGGAAATGCCAGTTTATTAAATAACGAGTAAGCCACCGTTTCAAGCCTGCCCTGTGGAGGAAATGCCAGTTTATTAAATAACGAGTAAGCCACCATTTCAAACCTGCCCTGTGGAGGAAATGCCAGTTTATTAACGAGTAAGTCACCGTTTCAAACCTGCCCTGTGGAGGAAATGCCAGTTTAGTAACGAGTAAGTCACCGTTTTAAGCCTGTCCTGTGGAGGAAATGCCAGTTTATTAACGAGTAAGCCACCGTTTCAAACCTGCCCTGTGGAGGAAGTGCCAGTTTATTAAATAATGAGTAAGTCACCGTTTCA... | GTGGAGGAAATGCCAGTTTATTAAATAACGAGTAAGCCACCGTTTCAAGCCTGCCCTGTGGAGGAAATGCCAGTTTATTAAATAACGAGTAAGCCACCATTTCAAACCTGCCCTGTGGAGGAAATGCCAGTTTATTAACGAGTAAGTCACCGTTTCAAACCTGCCCTGTGGAGGAAATGCCAGTTTAGTAACGAGTAAGTCACCGTTTTAAGCCTGTCCTGTGGAGGAAATGCCAGTTTATTAACGAGTAAGCCACCGTTTCAAACCTGCCCTGTGGAGGAAGTGCCAGTTTATTAAATAATGAGTAAGTCACCGTTTCA... | pathogenic | 89,040 |
Determine whether the variant at chromosome 5, position 912005, in gene TRIP13 (thyroid hormone receptor interactor 13) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CATCATGAACATGTCACAGTGCTGCAGAGATTTTGTTATGGCCAGTTTTGGGGCCAGTTTATGGCCAGATTTTGGGGGGCTTGTCCCCAACAAGTGTGCAGGTCCTGGAGGGGGGCCTCCCCTGCCTCTGGCTTCCTTCTCCTCTTGTCCACTTCCTTCCCCACCTGGCTTGTCTCTCAGTCTACTGCAATCTGGCTCCTGCCCCCGCCGCAGCCCAGCAGCCCCGCATTCACATGAGTGTTCCCTTTTCTCTTTCTGGAACTTTGCACAGCGCTGACACCCTGATGGCCCCTTCCCTGAATCTCTTTGTGCCTCCCTCC... | CATCATGAACATGTCACAGTGCTGCAGAGATTTTGTTATGGCCAGTTTTGGGGCCAGTTTATGGCCAGATTTTGGGGGGCTTGTCCCCAACAAGTGTGCAGGTCCTGGAGGGGGGCCTCCCCTGCCTCTGGCTTCCTTCTCCTCTTGTCCACTTCCTTCCCCACCTGGCTTGTCTCTCAGTCTACTGCAATCTGGCTCCTGCCCCCGCCGCAGCCCAGCAGCCCCGCATTCACATGAGTGTTCCCTTTTCTCTTTCTGGAACTTTGCACAGCGCTGACACCCTGATGGCCCCTTCCCTGAATCTCTTTGTGCCTCCCTCC... | benign | 89,158 |
Gene mutation in TERT (telomerase reverse transcriptase) at chromosome 5, position 1258638—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Pulmonary_fibrosis', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_1'] | ACTTCCTGAGCCACTTCTGGAATGACCTGAGATCACACCAGTCAAGCCAGCACCCCGGTTTCAGCCTCTCAGTAACTCTGCTGAGGTGGGATGTCTTTTCCCCATTTAGCAACAACGGAAGCCAGGCCCAGAATGTTTTTAAACAAATAAATAAGCCTAAGGTCCCGGGGTTGCCACACGGCCACGCTCCTGACCCAGGAGGGAAACACCTAGCATGGGTGAGGGGCTCTCTTCCAAAGGGAGAAATAGCCACCTGCTAGAGGTCGGGGCGTCCACCCCAAGCCCGTGTGGAGGCGCGGCCAGCACGGGCCAGGAAGGCC... | ACTTCCTGAGCCACTTCTGGAATGACCTGAGATCACACCAGTCAAGCCAGCACCCCGGTTTCAGCCTCTCAGTAACTCTGCTGAGGTGGGATGTCTTTTCCCCATTTAGCAACAACGGAAGCCAGGCCCAGAATGTTTTTAAACAAATAAATAAGCCTAAGGTCCCGGGGTTGCCACACGGCCACGCTCCTGACCCAGGAGGGAAACACCTAGCATGGGTGAGGGGCTCTCTTCCAAAGGGAGAAATAGCCACCTGCTAGAGGTCGGGGCGTCCACCCCAAGCCCGTGTGGAGGCGCGGCCAGCACGGGCCAGGAAGGCC... | pathogenic | 89,374 |
Does the chromosome 5 mutation at position 1271125 within gene TERT (telomerase reverse transcriptase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Dyskeratosis_congenita,_autosomal_dominant_2', 'Idiopathic_Pulmonary_Fibrosis'] | ACCAACGAGAAGCAGAAACTCTCCAAACAAGGATGCCAAGGGTGCGTTTTCAGACAAACAGTGAGAGCAGAATAGCCCCGTGGAACCTAAAGGTGCACACAGAAGGCATGGCTGCCACGCGACCCTCAGCCATCCCCAGAGCCCACAGGACGCCACTCCTGTTGCTAAGAGACGCTTGCAGCCTACTGCAAAAACAAGACCTGTTATTTTCGGGAAGCGCTATAGGTGGTCACCTTAAAAAGAGGCTTTCCGGCTGGGCGTGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAG... | ACCAACGAGAAGCAGAAACTCTCCAAACAAGGATGCCAAGGGTGCGTTTTCAGACAAACAGTGAGAGCAGAATAGCCCCGTGGAACCTAAAGGTGCACACAGAAGGCATGGCTGCCACGCGACCCTCAGCCATCCCCAGAGCCCACAGGACGCCACTCCTGTTGCTAAGAGACGCTTGCAGCCTACTGCAAAAACAAGACCTGTTATTTTCGGGAAGCGCTATAGGTGGTCACCTTAAAAAGAGGCTTTCCGGCTGGGCGTGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAG... | pathogenic | 89,472 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 1293710, gene TERT (telomerase reverse transcriptase): what disease(s) if pathogenic? | pathogenic; ['Dyskeratosis_congenita,_autosomal_dominant_2', 'Idiopathic_Pulmonary_Fibrosis', 'TERT-related_disorder'] | GCACGGGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTACACGTGACAGGGACACCTGGGGGCAACGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACCACGCCTCACTCCCTGCATAAGCCAGGGGCAGATTGTGACCTCATCTGAAGTCAGAGAACAGCAATGACAGGCAGAGTCCTGATCAGAGAACTCAAACTCTCCTCAACGAAGGAAGCTGGAGCACAAAAAGCAAAACTGGGTTGCATGACGCTTATCTGACTCGGCGTGGTCCACCTGAGCCGCAGCAGGTGTGAGGCAGCTGCCGTTCGA... | GCACGGGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTACACGTGACAGGGACACCTGGGGGCAACGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACCACGCCTCACTCCCTGCATAAGCCAGGGGCAGATTGTGACCTCATCTGAAGTCAGAGAACAGCAATGACAGGCAGAGTCCTGATCAGAGAACTCAAACTCTCCTCAACGAAGGAAGCTGGAGCACAAAAAGCAAAACTGGGTTGCATGACGCTTATCTGACTCGGCGTGGTCCACCTGAGCCGCAGCAGGTGTGAGGCAGCTGCCGTTCGA... | pathogenic | 89,732 |
Mutation at chromosome 5, position 1293962, within TERT (telomerase reverse transcriptase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Dyskeratosis_congenita', 'Dyskeratosis_congenita,_autosomal_dominant_2', 'Idiopathic_Pulmonary_Fibrosis'] | GCATGACGCTTATCTGACTCGGCGTGGTCCACCTGAGCCGCAGCAGGTGTGAGGCAGCTGCCGTTCGATGGGTAGGGACTTCCAGTCACGCAAGACGCAGCATTTCAAGCAACCTGCTGTAAACACCGCCGAGTTAGCAATTCTGCACTGTACACAGAAAACGGTGTTAGGAGTGCCAATCTCATGTTATATGACTTTTGCCACCATAAAAAGAAAAAAAGAAAAAAAAGAGCCCCAAGAAGGTCACCCTCCTTGTCTGCATGGCCGGAAGTCTTACATGTCTTGGGAGTTTGTGGGGAGGGGGTGAAATCGGGACTTCT... | GCATGACGCTTATCTGACTCGGCGTGGTCCACCTGAGCCGCAGCAGGTGTGAGGCAGCTGCCGTTCGATGGGTAGGGACTTCCAGTCACGCAAGACGCAGCATTTCAAGCAACCTGCTGTAAACACCGCCGAGTTAGCAATTCTGCACTGTACACAGAAAACGGTGTTAGGAGTGCCAATCTCATGTTATATGACTTTTGCCACCATAAAAAGAAAAAAAGAAAAAAAAGAGCCCCAAGAAGGTCACCCTCCTTGTCTGCATGGCCGGAAGTCTTACATGTCTTGGGAGTTTGTGGGGAGGGGGTGAAATCGGGACTTCT... | pathogenic | 89,778 |
Mutation found at chromosome 5 position 1294549, gene TERT (telomerase reverse transcriptase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Acute_myeloid_leukemia', 'Aplastic_anemia', 'Dyskeratosis_congenita,_autosomal_dominant_1', 'Dyskeratosis_congenita,_autosomal_dominant_2', 'Idiopathic_Pulmonary_Fibrosis', 'Interstitial_lung_disease_2', 'Melanoma,_cutaneous_malignant,_susceptibility_to,_9', 'Pulmonary_fibrosis', 'Pulmonary_fibrosis_and/o... | GCACAATCAACGAACACTTTTTTTTTTTAAAGACAGAGTTTCACTCTTGTCGCCCAGGCTGGAGTACAATGGCACAATCTCAGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCATGCCCAGCTAATTTTTGTATTTTTAGTACAGATAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCTTCCCAAAGTGCTGGGATTACCGGCGTGAGCCACCGCACCTGGCCGTCAACAC... | GCACAATCAACGAACACTTTTTTTTTTTAAAGACAGAGTTTCACTCTTGTCGCCCAGGCTGGAGTACAATGGCACAATCTCAGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCATGCCCAGCTAATTTTTGTATTTTTAGTACAGATAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCTTCCCAAAGTGCTGGGATTACCGGCGTGAGCCACCGCACCTGGCCGTCAACAC... | pathogenic | 89,908 |
Is the variant located on chromosome 5 at position 1801448, gene NDUFS6 (NADH:ubiquinone oxidoreductase subunit S6), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_9'] | CCCCGGTCGCCCGCCCCTGCTTCCCCACGCGCCCCGGCCCTTAGGGTTCAGCGGCCCCGGCTGGGAAGAGCTGGGCCTGCAGGGCCCGGAGGACACTGCGGCACCGGAGCCGGCCCTGCGCGCGGGCTGTGAGGTCGCGTTCGGGAGCCGCCAGTTCTCCCGCCCCGGGGTCGCTGGACACCCCCTCCTGTCGCCAGGTCGGGCGCCCACGGTCGGACCCGCACCCCCCAACCCTGGCCCTCTGAGACCGCCAGGCCCCGGCCCACGCTCCTCTGACCGCAGCCCACTCGGGGAGACACGCCCGAGGGTCCCAAGGTGGC... | CCCCGGTCGCCCGCCCCTGCTTCCCCACGCGCCCCGGCCCTTAGGGTTCAGCGGCCCCGGCTGGGAAGAGCTGGGCCTGCAGGGCCCGGAGGACACTGCGGCACCGGAGCCGGCCCTGCGCGCGGGCTGTGAGGTCGCGTTCGGGAGCCGCCAGTTCTCCCGCCCCGGGGTCGCTGGACACCCCCTCCTGTCGCCAGGTCGGGCGCCCACGGTCGGACCCGCACCCCCCAACCCTGGCCCTCTGAGACCGCCAGGCCCCGGCCCACGCTCCTCTGACCGCAGCCCACTCGGGGAGACACGCCCGAGGGTCCCAAGGTGGC... | pathogenic | 90,044 |
Is the variant located on chromosome 5 at position 1814281, gene NDUFS6 (NADH:ubiquinone oxidoreductase subunit S6), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CTGTGAGGGCAGCCAGAATCCTTCATGAGGCAGAACCCTCATGACCTCAGTACCTCTGAAGGCCCCGCCCTGTCTCTCAACACTGTTGCATTGACTATTCAGTTTCCAACAGAGGAACTTTGGGGGAGCACATTCAAACCATAGTACCTGGTAAGGTAATTAATGAGTTTTTAAAATATGTTTATGAAATCATGAGTGTAAAAATTTGTGTTTCCACATTTTGCAGTTATAATCCCCTTGTCCCTCCAATTCCCTGTATCCCAGATTATCCCATGTGGCAAATTTCCCCGGGTTGACTCCTCTTTTAACACAACCTTAGT... | CTGTGAGGGCAGCCAGAATCCTTCATGAGGCAGAACCCTCATGACCTCAGTACCTCTGAAGGCCCCGCCCTGTCTCTCAACACTGTTGCATTGACTATTCAGTTTCCAACAGAGGAACTTTGGGGGAGCACATTCAAACCATAGTACCTGGTAAGGTAATTAATGAGTTTTTAAAATATGTTTATGAAATCATGAGTGTAAAAATTTGTGTTTCCACATTTTGCAGTTATAATCCCCTTGTCCCTCCAATTCCCTGTATCCCAGATTATCCCATGTGGCAAATTTCCCCGGGTTGACTCCTCTTTTAACACAACCTTAGT... | benign | 90,053 |
A mutation at chromosome position 1814393 on chromosome 5 in gene NDUFS6 (NADH:ubiquinone oxidoreductase subunit S6): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_9'] | AGGAACTTTGGGGGAGCACATTCAAACCATAGTACCTGGTAAGGTAATTAATGAGTTTTTAAAATATGTTTATGAAATCATGAGTGTAAAAATTTGTGTTTCCACATTTTGCAGTTATAATCCCCTTGTCCCTCCAATTCCCTGTATCCCAGATTATCCCATGTGGCAAATTTCCCCGGGTTGACTCCTCTTTTAACACAACCTTAGTTGCCTTAAAAACTTCCCTGACTTGTGCCACAGTAGAGTGTCTGAAGTTCATTCTATAACATTTCCTGTCCTGGACCCAGAATCAGTCATTTTTGAAAGAATCCAGTCCCTTC... | AGGAACTTTGGGGGAGCACATTCAAACCATAGTACCTGGTAAGGTAATTAATGAGTTTTTAAAATATGTTTATGAAATCATGAGTGTAAAAATTTGTGTTTCCACATTTTGCAGTTATAATCCCCTTGTCCCTCCAATTCCCTGTATCCCAGATTATCCCATGTGGCAAATTTCCCCGGGTTGACTCCTCTTTTAACACAACCTTAGTTGCCTTAAAAACTTCCCTGACTTGTGCCACAGTAGAGTGTCTGAAGTTCATTCTATAACATTTCCTGTCCTGGACCCAGAATCAGTCATTTTTGAAAGAATCCAGTCCCTTC... | pathogenic | 90,055 |
The genetic variant at chromosome 5, position 1815857, affecting gene NDUFS6 (NADH:ubiquinone oxidoreductase subunit S6): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_9'] | CCAAGGGGAAAGCCGGAAGGACATTGTTGGTCTAACGGATTGCAGAGCTACTGGCATTTTTGGCATTTTAGATAAATCTATTCCATCGGTATCATGTTTACTGAGGTGGATAACTGCATGGAGGTTCTGTGAGAGAATGTTCTTATGAAACGCACATGGGAGCCTGTGACAGACAGGCCCGAGCAATACAAATGTCCTCAGGTGGGACAGAACGATGTGGTGGGGAGAAGAGGGCGTGGCAGAGCCCACGGGGCACGTGTCAGCATTTGCTGGGTCCACGGGGACAGAAGGGAAAGGCTCTGTGCTGCTGGGATTCTTGC... | CCAAGGGGAAAGCCGGAAGGACATTGTTGGTCTAACGGATTGCAGAGCTACTGGCATTTTTGGCATTTTAGATAAATCTATTCCATCGGTATCATGTTTACTGAGGTGGATAACTGCATGGAGGTTCTGTGAGAGAATGTTCTTATGAAACGCACATGGGAGCCTGTGACAGACAGGCCCGAGCAATACAAATGTCCTCAGGTGGGACAGAACGATGTGGTGGGGAGAAGAGGGCGTGGCAGAGCCCACGGGGCACGTGTCAGCATTTGCTGGGTCCACGGGGACAGAAGGGAAAGGCTCTGTGCTGCTGGGATTCTTGC... | pathogenic | 90,065 |
The mutation in gene NSUN2 (NOP2/Sun RNA methyltransferase 2) at chromosome 5, position 6605281—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Intellectual_disability,_autosomal_recessive_5'] | TCTGAAGTGGAAGTTGATGAAATATAAAAGCAGCAATATGACCAATAATCTACTCCAGCTGGCTAGCAGAAAAGTCAGAACTGCTGGCAAGACTCTTATTTTGCTCTAACACAGGTGATTAAAATCTGCATGTTAGCCAGTCTCGTGAGGCTGTGTACCTTAAAAAACAAATTTACTGGCTGGGCGCGGTGGCCCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCG... | TCTGAAGTGGAAGTTGATGAAATATAAAAGCAGCAATATGACCAATAATCTACTCCAGCTGGCTAGCAGAAAAGTCAGAACTGCTGGCAAGACTCTTATTTTGCTCTAACACAGGTGATTAAAATCTGCATGTTAGCCAGTCTCGTGAGGCTGTGTACCTTAAAAAACAAATTTACTGGCTGGGCGCGGTGGCCCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCG... | pathogenic | 90,129 |
Determine if the mutation at chromosome 5, position 6605422 in gene NSUN2 (NOP2/Sun RNA methyltransferase 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CTCGTGAGGCTGTGTACCTTAAAAAACAAATTTACTGGCTGGGCGCGGTGGCCCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGTGCTTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATGGCTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAA... | CTCGTGAGGCTGTGTACCTTAAAAAACAAATTTACTGGCTGGGCGCGGTGGCCCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGTGCTTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATGGCTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAA... | benign | 90,131 |
Variant at chromosome position 6616707, chromosome 5, gene NSUN2 (NOP2/Sun RNA methyltransferase 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AAATGGGTGAGGGTGGCAGAAGCATCCAGAGCTCCAGGCAAGTAACCCGGTCTGACAGCACAGCCAGCCCACAGAGCACACAGCATGTTCTCTGAGCGGGGACAATTTTGCGGTAATGAGACAGGCAAACAGCAAGTATCTCCAATGTGAGGAAAGAAAGCCCGGTGGACTCAGGCCAGCAAGTCCTGCCTGCAAAGAGTGACTCCAGCCACGAGTGAGGACAGGCTTGTGTGGACAAGAGCCTCTCTCACCTAAGAACTCAGGAGACCTGGCTTTTGGTCCCAGCCAAAAGCTTACAAGAGAAAAAGGAGCAAAATTAA... | AAATGGGTGAGGGTGGCAGAAGCATCCAGAGCTCCAGGCAAGTAACCCGGTCTGACAGCACAGCCAGCCCACAGAGCACACAGCATGTTCTCTGAGCGGGGACAATTTTGCGGTAATGAGACAGGCAAACAGCAAGTATCTCCAATGTGAGGAAAGAAAGCCCGGTGGACTCAGGCCAGCAAGTCCTGCCTGCAAAGAGTGACTCCAGCCACGAGTGAGGACAGGCTTGTGTGGACAAGAGCCTCTCTCACCTAAGAACTCAGGAGACCTGGCTTTTGGTCCCAGCCAAAAGCTTACAAGAGAAAAAGGAGCAAAATTAA... | benign | 90,145 |
Variant chromosome 5, position 6616727, gene NSUN2 (NOP2/Sun RNA methyltransferase 2): benign or pathogenic? Disease(s)? | pathogenic; ['Intellectual_disability', 'Intellectual_disability,_autosomal_recessive_5'] | AGCATCCAGAGCTCCAGGCAAGTAACCCGGTCTGACAGCACAGCCAGCCCACAGAGCACACAGCATGTTCTCTGAGCGGGGACAATTTTGCGGTAATGAGACAGGCAAACAGCAAGTATCTCCAATGTGAGGAAAGAAAGCCCGGTGGACTCAGGCCAGCAAGTCCTGCCTGCAAAGAGTGACTCCAGCCACGAGTGAGGACAGGCTTGTGTGGACAAGAGCCTCTCTCACCTAAGAACTCAGGAGACCTGGCTTTTGGTCCCAGCCAAAAGCTTACAAGAGAAAAAGGAGCAAAATTAAACACCTAGAGTACTTAACTA... | AGCATCCAGAGCTCCAGGCAAGTAACCCGGTCTGACAGCACAGCCAGCCCACAGAGCACACAGCATGTTCTCTGAGCGGGGACAATTTTGCGGTAATGAGACAGGCAAACAGCAAGTATCTCCAATGTGAGGAAAGAAAGCCCGGTGGACTCAGGCCAGCAAGTCCTGCCTGCAAAGAGTGACTCCAGCCACGAGTGAGGACAGGCTTGTGTGGACAAGAGCCTCTCTCACCTAAGAACTCAGGAGACCTGGCTTTTGGTCCCAGCCAAAAGCTTACAAGAGAAAAAGGAGCAAAATTAAACACCTAGAGTACTTAACTA... | pathogenic | 90,146 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 6623292, gene NSUN2 (NOP2/Sun RNA methyltransferase 2): what disease(s) if pathogenic? | benign | TCTAACACTGTAAGTAACTTGCCGATTAGGATTTGAACCCAGGGAGTCTGATGGTAGCTTTTAACTACACACTACTACCCTTCATGTAAGGCAGTAAGTAATAATAATAATAATAATAGTAATAATAATGAACAAAGGTGGGGGAAAGGGGAAATTGTTACTAAAAATTCAAACAGTGAAATCTATCTTCTGTAAGTAGGCTTGATAAAGAAACACCATCTGCAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACA... | TCTAACACTGTAAGTAACTTGCCGATTAGGATTTGAACCCAGGGAGTCTGATGGTAGCTTTTAACTACACACTACTACCCTTCATGTAAGGCAGTAAGTAATAATAATAATAATAATAGTAATAATAATGAACAAAGGTGGGGGAAAGGGGAAATTGTTACTAAAAATTCAAACAGTGAAATCTATCTTCTGTAAGTAGGCTTGATAAAGAAACACCATCTGCAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACA... | benign | 90,170 |
Assess the variant on chromosome 5, position 6623292, impacting NSUN2 (NOP2/Sun RNA methyltransferase 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TCTAACACTGTAAGTAACTTGCCGATTAGGATTTGAACCCAGGGAGTCTGATGGTAGCTTTTAACTACACACTACTACCCTTCATGTAAGGCAGTAAGTAATAATAATAATAATAATAGTAATAATAATGAACAAAGGTGGGGGAAAGGGGAAATTGTTACTAAAAATTCAAACAGTGAAATCTATCTTCTGTAAGTAGGCTTGATAAAGAAACACCATCTGCAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACA... | TCTAACACTGTAAGTAACTTGCCGATTAGGATTTGAACCCAGGGAGTCTGATGGTAGCTTTTAACTACACACTACTACCCTTCATGTAAGGCAGTAAGTAATAATAATAATAATAATAGTAATAATAATGAACAAAGGTGGGGGAAAGGGGAAATTGTTACTAAAAATTCAAACAGTGAAATCTATCTTCTGTAAGTAGGCTTGATAAAGAAACACCATCTGCAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACA... | benign | 90,171 |
Evaluate this variant at chromosome 5, position 6631894, gene NSUN2 (NOP2/Sun RNA methyltransferase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic | TCAGCACTCATTCTCTCTCCTGCCACCCTGTGCAGAGAGATCTTCCGCCATGATTTTAAGCTTCCTGAGGCCTCCCCGGCGATGTGGAAATGTGAGTCAATTAAGCCTATTTCCTTTATCTATACATTACTCAGGTATGTCCTTATAACAGTGTGAAAATGGACTACTACAGTATCAGACCTCTACTTCAAGTACAACACAATCAGTGTCGTCAATCAAATCTTCAAACCAAACGACTTGAGCAAAGTCTACAACCTAGTTACCAGGAGGAAGAAAAGCTTGATCTCGTGAAGGTTACCTCATCTCAGCAATGCCATAAC... | TCAGCACTCATTCTCTCTCCTGCCACCCTGTGCAGAGAGATCTTCCGCCATGATTTTAAGCTTCCTGAGGCCTCCCCGGCGATGTGGAAATGTGAGTCAATTAAGCCTATTTCCTTTATCTATACATTACTCAGGTATGTCCTTATAACAGTGTGAAAATGGACTACTACAGTATCAGACCTCTACTTCAAGTACAACACAATCAGTGTCGTCAATCAAATCTTCAAACCAAACGACTTGAGCAAAGTCTACAACCTAGTTACCAGGAGGAAGAAAAGCTTGATCTCGTGAAGGTTACCTCATCTCAGCAATGCCATAAC... | pathogenic | 90,176 |
Is chromosome 5, position 6632914, gene NSUN2 (NOP2/Sun RNA methyltransferase 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Intellectual_disability,_autosomal_recessive_5'] | GGGCGGATCATGAGGTCAGGAGATGAGACCATCCTGGCTAGCAAGGTAAAAACCCGTCTCCACTAAAAATACAAAAAAATTGGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGAATGGCGTGAACCAGGGAGGTGGAGCTTGCAGTGAGCCAAGATGGTGCCACTGCTCTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCCAAACAAACAAACAGACAAACAAAAAACGGCTTAATTCACCTTTTCGTGCATTACTTTTCTGAGAACTCAATACCTCAAAGTTAATAATAAC... | GGGCGGATCATGAGGTCAGGAGATGAGACCATCCTGGCTAGCAAGGTAAAAACCCGTCTCCACTAAAAATACAAAAAAATTGGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGAATGGCGTGAACCAGGGAGGTGGAGCTTGCAGTGAGCCAAGATGGTGCCACTGCTCTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCCAAACAAACAAACAGACAAACAAAAAACGGCTTAATTCACCTTTTCGTGCATTACTTTTCTGAGAACTCAATACCTCAAAGTTAATAATAAC... | pathogenic | 90,187 |
Evaluate if the mutation on chromosome 5 at position 6633194 in NSUN2 (NOP2/Sun RNA methyltransferase 2) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TACTTTTCTGAGAACTCAATACCTCAAAGTTAATAATAACGACTTTCCCACTTATGTAAGTTAACTGAAGGACTGGCGCCTCCGGAGTTCTCCAAGCATCTTTACAAGATGCTATCAGCACAAGGGATCACCTTCATACAACTGAGACTAGAACCGAGCCATGAGGAATAGGTAACCCAGAAGGCACCTCCAGGACAGGTCAAGAAAGAGGTAGCTCCCAGAGTAGTAGCACGCTTGGGTGCTGAGACTCGGAAATGCTACATTGGCTGGTGCAGTCTGTACTGCGAAGTACCAGGAGACAACCTGACAGCAGACAGTGG... | TACTTTTCTGAGAACTCAATACCTCAAAGTTAATAATAACGACTTTCCCACTTATGTAAGTTAACTGAAGGACTGGCGCCTCCGGAGTTCTCCAAGCATCTTTACAAGATGCTATCAGCACAAGGGATCACCTTCATACAACTGAGACTAGAACCGAGCCATGAGGAATAGGTAACCCAGAAGGCACCTCCAGGACAGGTCAAGAAAGAGGTAGCTCCCAGAGTAGTAGCACGCTTGGGTGCTGAGACTCGGAAATGCTACATTGGCTGGTGCAGTCTGTACTGCGAAGTACCAGGAGACAACCTGACAGCAGACAGTGG... | benign | 90,194 |
Variant at chromosome 5, position 7873472, gene MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Methylcobalamin_deficiency_type_cblE', 'Neural_tube_defects,_folate-sensitive'] | TTCAGTCTCTGCAGAAGTTCCTACCTTAGGGTATATGCAACTTTACCATCTTGTGTTCTTTTATTTAGTTTGCTGCCTCCAGATTATACTATTTCAGACAATTCAGGCGATAACAGTTGGCAGGGGCTTTATACCACAAGATGATTTGCCAGCCGCTAAGCAGTTAAAATTCACTTCAACATTTCAGAGACTGTCCTGCCAGTGCTCTCTCACCCAAGTGCACAACCCTCTCTGGCCTTTCCTAAAACTCCAGTTCAGAACACTAGACTGTGTGCAGCTCAAGTGAATTATAAACCCAGCTCACGGAAGGAGACTCACCT... | TTCAGTCTCTGCAGAAGTTCCTACCTTAGGGTATATGCAACTTTACCATCTTGTGTTCTTTTATTTAGTTTGCTGCCTCCAGATTATACTATTTCAGACAATTCAGGCGATAACAGTTGGCAGGGGCTTTATACCACAAGATGATTTGCCAGCCGCTAAGCAGTTAAAATTCACTTCAACATTTCAGAGACTGTCCTGCCAGTGCTCTCTCACCCAAGTGCACAACCCTCTCTGGCCTTTCCTAAAACTCCAGTTCAGAACACTAGACTGTGTGCAGCTCAAGTGAATTATAAACCCAGCTCACGGAAGGAGACTCACCT... | pathogenic | 90,219 |
The mutation in gene MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase) at chromosome 5, position 7873511—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Methylcobalamin_deficiency_type_cblE', 'Neural_tube_defects,_folate-sensitive'] | ACTTTACCATCTTGTGTTCTTTTATTTAGTTTGCTGCCTCCAGATTATACTATTTCAGACAATTCAGGCGATAACAGTTGGCAGGGGCTTTATACCACAAGATGATTTGCCAGCCGCTAAGCAGTTAAAATTCACTTCAACATTTCAGAGACTGTCCTGCCAGTGCTCTCTCACCCAAGTGCACAACCCTCTCTGGCCTTTCCTAAAACTCCAGTTCAGAACACTAGACTGTGTGCAGCTCAAGTGAATTATAAACCCAGCTCACGGAAGGAGACTCACCTAGTTCCTTTATGCAGCCCTGCCACGGTAACTCTGGACAC... | ACTTTACCATCTTGTGTTCTTTTATTTAGTTTGCTGCCTCCAGATTATACTATTTCAGACAATTCAGGCGATAACAGTTGGCAGGGGCTTTATACCACAAGATGATTTGCCAGCCGCTAAGCAGTTAAAATTCACTTCAACATTTCAGAGACTGTCCTGCCAGTGCTCTCTCACCCAAGTGCACAACCCTCTCTGGCCTTTCCTAAAACTCCAGTTCAGAACACTAGACTGTGTGCAGCTCAAGTGAATTATAAACCCAGCTCACGGAAGGAGACTCACCTAGTTCCTTTATGCAGCCCTGCCACGGTAACTCTGGACAC... | pathogenic | 90,221 |
Variant at chromosome 5, position 7875292, gene MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Methylcobalamin_deficiency_type_cblE', 'Neural_tube_defects,_folate-sensitive'] | GTCTCAAAAAAACTGGCAAGGAAGAAGATTGAAATACAAGACAGGAAACTAAGCTGATTGCTTTGCTGCTGAGTTAAATCAAAAATGCATGTAGTGTTAGGTCCCTGACTTGATATCCTTGTTTTGTAGTATGACCTAAAAACCGAAACAGCTCCTCTTGTTGTTGTGGTTTCTACCACGGGCACCGGAGACCCACCCGACACAGCCCGCAAGTTTGTTAAGGAAATACAGAACCAAACACTGCCGGTTGATTTCTTTGCTCACCTGCGGTATGGGTTACTGGGTAATGGACTCTCTCTTCTGATCTTACTATAGTATAC... | GTCTCAAAAAAACTGGCAAGGAAGAAGATTGAAATACAAGACAGGAAACTAAGCTGATTGCTTTGCTGCTGAGTTAAATCAAAAATGCATGTAGTGTTAGGTCCCTGACTTGATATCCTTGTTTTGTAGTATGACCTAAAAACCGAAACAGCTCCTCTTGTTGTTGTGGTTTCTACCACGGGCACCGGAGACCCACCCGACACAGCCCGCAAGTTTGTTAAGGAAATACAGAACCAAACACTGCCGGTTGATTTCTTTGCTCACCTGCGGTATGGGTTACTGGGTAATGGACTCTCTCTTCTGATCTTACTATAGTATAC... | pathogenic | 90,224 |
A genetic alteration at chromosome 5, position 7875327, in gene MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['MTRR-related_disorder', 'Methylcobalamin_deficiency_type_cblE'] | ACAAGACAGGAAACTAAGCTGATTGCTTTGCTGCTGAGTTAAATCAAAAATGCATGTAGTGTTAGGTCCCTGACTTGATATCCTTGTTTTGTAGTATGACCTAAAAACCGAAACAGCTCCTCTTGTTGTTGTGGTTTCTACCACGGGCACCGGAGACCCACCCGACACAGCCCGCAAGTTTGTTAAGGAAATACAGAACCAAACACTGCCGGTTGATTTCTTTGCTCACCTGCGGTATGGGTTACTGGGTAATGGACTCTCTCTTCTGATCTTACTATAGTATACTATTGATATCTCTGGTATCTGAATTATCTTTCAGA... | ACAAGACAGGAAACTAAGCTGATTGCTTTGCTGCTGAGTTAAATCAAAAATGCATGTAGTGTTAGGTCCCTGACTTGATATCCTTGTTTTGTAGTATGACCTAAAAACCGAAACAGCTCCTCTTGTTGTTGTGGTTTCTACCACGGGCACCGGAGACCCACCCGACACAGCCCGCAAGTTTGTTAAGGAAATACAGAACCAAACACTGCCGGTTGATTTCTTTGCTCACCTGCGGTATGGGTTACTGGGTAATGGACTCTCTCTTCTGATCTTACTATAGTATACTATTGATATCTCTGGTATCTGAATTATCTTTCAGA... | pathogenic | 90,226 |
Considering the variant on chromosome 5, location 7875351, involving gene MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Methylcobalamin_deficiency_type_cblE', 'Neural_tube_defects,_folate-sensitive'] | GCTTTGCTGCTGAGTTAAATCAAAAATGCATGTAGTGTTAGGTCCCTGACTTGATATCCTTGTTTTGTAGTATGACCTAAAAACCGAAACAGCTCCTCTTGTTGTTGTGGTTTCTACCACGGGCACCGGAGACCCACCCGACACAGCCCGCAAGTTTGTTAAGGAAATACAGAACCAAACACTGCCGGTTGATTTCTTTGCTCACCTGCGGTATGGGTTACTGGGTAATGGACTCTCTCTTCTGATCTTACTATAGTATACTATTGATATCTCTGGTATCTGAATTATCTTTCAGAACTATGAAGTGTGATCATATAGGT... | GCTTTGCTGCTGAGTTAAATCAAAAATGCATGTAGTGTTAGGTCCCTGACTTGATATCCTTGTTTTGTAGTATGACCTAAAAACCGAAACAGCTCCTCTTGTTGTTGTGGTTTCTACCACGGGCACCGGAGACCCACCCGACACAGCCCGCAAGTTTGTTAAGGAAATACAGAACCAAACACTGCCGGTTGATTTCTTTGCTCACCTGCGGTATGGGTTACTGGGTAATGGACTCTCTCTTCTGATCTTACTATAGTATACTATTGATATCTCTGGTATCTGAATTATCTTTCAGAACTATGAAGTGTGATCATATAGGT... | pathogenic | 90,227 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.