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 |
|---|---|---|---|---|---|
Clinically, how would you classify the variant at chromosome 19, position 10986927, gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Rhabdoid_tumor_predisposition_syndrome_2'] | TCTCTTTTGCATGTCCCTGGATGTGGTTAGAGGACATATTCCCTTATACATACAGCATCTGAAAGGAAAGGTCATATTAGCATCCATGAGAAAAGGTGACATTTCTAAGTGTCACGGGCCACAGGAGGTCCCGGGTGGTAGAAGATGAGGATTGCTTGACCACAGTCTCCCATATGCTCGTGCTCCACTGGGCGACATTTATTTTGTGTACCTGTCTCGAGGCCTAAGTAGGTGTCAGAACCTTGCCTTGGAGTCATGCTGGGGACTGGGGAGATGCGCGTCATCTTCGGGTGGCTGTTCTCGGTGCCCTCGAGCTTCTC... | TCTCTTTTGCATGTCCCTGGATGTGGTTAGAGGACATATTCCCTTATACATACAGCATCTGAAAGGAAAGGTCATATTAGCATCCATGAGAAAAGGTGACATTTCTAAGTGTCACGGGCCACAGGAGGTCCCGGGTGGTAGAAGATGAGGATTGCTTGACCACAGTCTCCCATATGCTCGTGCTCCACTGGGCGACATTTATTTTGTGTACCTGTCTCGAGGCCTAAGTAGGTGTCAGAACCTTGCCTTGGAGTCATGCTGGGGACTGGGGAGATGCGCGTCATCTTCGGGTGGCTGTTCTCGGTGCCCTCGAGCTTCTC... | pathogenic | 296,498 |
Gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) variant at chromosome 19, position 10986948—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Intellectual_disability,_autosomal_dominant_16', 'Otosclerosis_12', 'Rhabdoid_tumor_predisposition_syndrome_2'] | TGTGGTTAGAGGACATATTCCCTTATACATACAGCATCTGAAAGGAAAGGTCATATTAGCATCCATGAGAAAAGGTGACATTTCTAAGTGTCACGGGCCACAGGAGGTCCCGGGTGGTAGAAGATGAGGATTGCTTGACCACAGTCTCCCATATGCTCGTGCTCCACTGGGCGACATTTATTTTGTGTACCTGTCTCGAGGCCTAAGTAGGTGTCAGAACCTTGCCTTGGAGTCATGCTGGGGACTGGGGAGATGCGCGTCATCTTCGGGTGGCTGTTCTCGGTGCCCTCGAGCTTCTCTCGGGCAGCGCATAGCTGCGC... | TGTGGTTAGAGGACATATTCCCTTATACATACAGCATCTGAAAGGAAAGGTCATATTAGCATCCATGAGAAAAGGTGACATTTCTAAGTGTCACGGGCCACAGGAGGTCCCGGGTGGTAGAAGATGAGGATTGCTTGACCACAGTCTCCCATATGCTCGTGCTCCACTGGGCGACATTTATTTTGTGTACCTGTCTCGAGGCCTAAGTAGGTGTCAGAACCTTGCCTTGGAGTCATGCTGGGGACTGGGGAGATGCGCGTCATCTTCGGGTGGCTGTTCTCGGTGCCCTCGAGCTTCTCTCGGGCAGCGCATAGCTGCGC... | pathogenic | 296,503 |
Is chromosome 19, position 10994880, gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Rhabdoid_tumor_predisposition_syndrome_2'] | CCGCCTGCCTCGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCTCCTGACCACCAACATTTTTTTATATATATTATTTCAGCCTTTTTTCTTGTATATTAATACAAGGTTAAATAGCCCTTTTTAAATTTTTTCTAAAACTTTGCTTTTTTTTTTTTTTTTTTTGAGTCAGAATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCCACTCACTGCAGCCTCTGTCTTCTGGGTTCAAGCGATTCTCCTGCCTTAGCCACCTGAGCAGCTGGAATTACAGGTGTGCACCACCACACCTGGCTA... | CCGCCTGCCTCGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCTCCTGACCACCAACATTTTTTTATATATATTATTTCAGCCTTTTTTCTTGTATATTAATACAAGGTTAAATAGCCCTTTTTAAATTTTTTCTAAAACTTTGCTTTTTTTTTTTTTTTTTTTGAGTCAGAATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCCACTCACTGCAGCCTCTGTCTTCTGGGTTCAAGCGATTCTCCTGCCTTAGCCACCTGAGCAGCTGGAATTACAGGTGTGCACCACCACACCTGGCTA... | pathogenic | 296,661 |
Mutation found at chromosome 19 position 10994958, gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Rhabdoid_tumor_predisposition_syndrome_2'] | TATTATTTCAGCCTTTTTTCTTGTATATTAATACAAGGTTAAATAGCCCTTTTTAAATTTTTTCTAAAACTTTGCTTTTTTTTTTTTTTTTTTTGAGTCAGAATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCCACTCACTGCAGCCTCTGTCTTCTGGGTTCAAGCGATTCTCCTGCCTTAGCCACCTGAGCAGCTGGAATTACAGGTGTGCACCACCACACCTGGCTACTTTTTGTACTTTTAGTAGAGATGGGGATTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCG... | TATTATTTCAGCCTTTTTTCTTGTATATTAATACAAGGTTAAATAGCCCTTTTTAAATTTTTTCTAAAACTTTGCTTTTTTTTTTTTTTTTTTTGAGTCAGAATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCCACTCACTGCAGCCTCTGTCTTCTGGGTTCAAGCGATTCTCCTGCCTTAGCCACCTGAGCAGCTGGAATTACAGGTGTGCACCACCACACCTGGCTACTTTTTGTACTTTTAGTAGAGATGGGGATTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCG... | pathogenic | 296,675 |
Mutation at chromosome 19, position 10996367, within SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Rhabdoid_tumor_predisposition_syndrome_2'] | TTTTTTTTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTGTTGCCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGGCCCCTCACCACGCCCGGCTGATTTTTTGAATTTTTTTTGTTAGTAGAGATGGGGTTTTACCATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCTAATTTTTTTATTTTTATTT... | TTTTTTTTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTGTTGCCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGGCCCCTCACCACGCCCGGCTGATTTTTTGAATTTTTTTTGTTAGTAGAGATGGGGTTTTACCATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCTAATTTTTTTATTTTTATTT... | pathogenic | 296,713 |
Evaluate if the mutation on chromosome 19 at position 10996373 in SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Rhabdoid_tumor_predisposition_syndrome_2'] | TTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTGTTGCCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGGCCCCTCACCACGCCCGGCTGATTTTTTGAATTTTTTTTGTTAGTAGAGATGGGGTTTTACCATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCTAATTTTTTTATTTTTATTTTTAGTA... | TTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTGTTGCCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGGCCCCTCACCACGCCCGGCTGATTTTTTGAATTTTTTTTGTTAGTAGAGATGGGGTTTTACCATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCTAATTTTTTTATTTTTATTTTTAGTA... | pathogenic | 296,714 |
Benign or pathogenic: chromosome 19, position 11003329, gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) variant? Disease(s) if pathogenic? | benign | CAACATAGGGAGACTCTGTCTCTCCAAAAAATAAAATAATTACCTGGGCATGGTGGTGTGCACTTGCGGTCCCAGCTGATTGGGAGCCAGAGGTAGGCGGATCACTTGAGCCCAGGGCTTTGAGGCTGTGATCACACCTGTGAATAACCATGGTACTGAGCCCGTCTCCAAAAAATAAAAAGTAAATTAAAAATCTTAAAAAGCGAGGATGCCCAAGCCTCACTCCAGAGGAGTTCAATCAGAATTTTGGGTGTAGGGGAGGCATGCAGCAATCGGCATCTTTGACTGCTCCTCCCAGTGATCCCAGAGAGGATGTGGAG... | CAACATAGGGAGACTCTGTCTCTCCAAAAAATAAAATAATTACCTGGGCATGGTGGTGTGCACTTGCGGTCCCAGCTGATTGGGAGCCAGAGGTAGGCGGATCACTTGAGCCCAGGGCTTTGAGGCTGTGATCACACCTGTGAATAACCATGGTACTGAGCCCGTCTCCAAAAAATAAAAAGTAAATTAAAAATCTTAAAAAGCGAGGATGCCCAAGCCTCACTCCAGAGGAGTTCAATCAGAATTTTGGGTGTAGGGGAGGCATGCAGCAATCGGCATCTTTGACTGCTCCTCCCAGTGATCCCAGAGAGGATGTGGAG... | benign | 296,761 |
Is the chromosome 19, position 11010538 variant in SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GCAGAGTGCTTCCAGTCTGGTCCTCAGCGTGCAGTGTCATACTGCGTCACGTTATATTCTCATTTTCGTAGCCTGTCCTTTGGTGACAAGCGTTTAGGTTATATTTGTCATCTTTTGCTCCTGTAACACATCACAGTTAACACAGTAATCTCTTCATTGCTTATGGTAAGGAATTAATAGATCCTGTTAAAAAGCAAGTGAGGGCTGGGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACTTGGTGAAACCGCATCTCTA... | GCAGAGTGCTTCCAGTCTGGTCCTCAGCGTGCAGTGTCATACTGCGTCACGTTATATTCTCATTTTCGTAGCCTGTCCTTTGGTGACAAGCGTTTAGGTTATATTTGTCATCTTTTGCTCCTGTAACACATCACAGTTAACACAGTAATCTCTTCATTGCTTATGGTAAGGAATTAATAGATCCTGTTAAAAAGCAAGTGAGGGCTGGGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACTTGGTGAAACCGCATCTCTA... | benign | 296,826 |
Considering the genetic mutation at chromosome 19, position 11021943, impacting SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Rhabdoid_tumor_predisposition_syndrome_2'] | GCAGGCCCTGAGTCAGGCCCAGAAGCTGGGGCCATCTACACAGCATGCGCTCTGCCTCCTCTCGGGCCTTCTGCCCAGAGAGCCTCAGCACCAAGGCGTCTCCTGACCCGCCTACAGAGTCCCCATGGGGCCTTGGCCAGACCAGTCTTGTCCTCCTGTCTCATTGCCTTGGCCGTCCCTCCCTGGGGCCCTGGCTTCTCACCACAGGCCATGGGCTGAGATTCAGCATGTGGGGGAGAGCTCGAGGGCCAAATACCATGACTGCCTGCTGGCCTTGGGCAGCTGGTTCGGGCTGTTCTGTGAGGGTCCTACTGTCCTGG... | GCAGGCCCTGAGTCAGGCCCAGAAGCTGGGGCCATCTACACAGCATGCGCTCTGCCTCCTCTCGGGCCTTCTGCCCAGAGAGCCTCAGCACCAAGGCGTCTCCTGACCCGCCTACAGAGTCCCCATGGGGCCTTGGCCAGACCAGTCTTGTCCTCCTGTCTCATTGCCTTGGCCGTCCCTCCCTGGGGCCCTGGCTTCTCACCACAGGCCATGGGCTGAGATTCAGCATGTGGGGGAGAGCTCGAGGGCCAAATACCATGACTGCCTGCTGGCCTTGGGCAGCTGGTTCGGGCTGTTCTGTGAGGGTCCTACTGTCCTGG... | pathogenic | 296,965 |
Is the variant located on chromosome 19 at position 11023577, gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Rhabdoid_tumor_predisposition_syndrome_2'] | GCTTGCAAGAGGCTACGTTGTGTGGCTCCAACTCGGTGAGTCAGCCCCGGGGCAGGACGTCAGGCCTGTGCTCTCCACCCAGCTGCGCTCTTCCACCTGGAGCCTTCCTGGCTGCTGGGCGCAGAGTGGGAGATTCTCCCCATGTGCCGGGCCACCTGCTGCCCCCTGCCCTGATTGCCCACTCTGGGGCCCGCAGATCCGTTGGAAGTACATGATTGTGGACGAAGGTCACCGCATGAAGAACCACCACTGCAAGCTGACGCAGGTGCTCAACACGCACTATGTGGCACCCCGCCGCCTGCTGCTGACGGGCACACCGC... | GCTTGCAAGAGGCTACGTTGTGTGGCTCCAACTCGGTGAGTCAGCCCCGGGGCAGGACGTCAGGCCTGTGCTCTCCACCCAGCTGCGCTCTTCCACCTGGAGCCTTCCTGGCTGCTGGGCGCAGAGTGGGAGATTCTCCCCATGTGCCGGGCCACCTGCTGCCCCCTGCCCTGATTGCCCACTCTGGGGCCCGCAGATCCGTTGGAAGTACATGATTGTGGACGAAGGTCACCGCATGAAGAACCACCACTGCAAGCTGACGCAGGTGCTCAACACGCACTATGTGGCACCCCGCCGCCTGCTGCTGACGGGCACACCGC... | pathogenic | 296,986 |
Clinical significance of chromosome 19, position 11030821, gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Rhabdoid_tumor_predisposition_syndrome_2'] | GGAGCCCTGGAGTGAGTTCTTCGTGGGAGTTACTAGAACTGGGCTTACGAGAAACACGAGCATGAGCTGCTGAGACAGACACGGCTCAGCCAGTTTGTTGTTCCCTACACGACCTCCCAGAGCCTTTGTTGAAGCTCCTGTGCAAGGTCTGTCTCACAGCAGGACACCCCAGACCTCCATACCCCTTGTCCCGTTGATCACTTGGACCTGTGTTTGCTGGGCCAACCTGCCCAGGTGCCACCCGGAGTGTGCCCTGTGTGTCCCTCCAAACTGCAGGTCCTCCCCGGGGTTCTGTCCAGGACCACTCTACAGACACGAGT... | GGAGCCCTGGAGTGAGTTCTTCGTGGGAGTTACTAGAACTGGGCTTACGAGAAACACGAGCATGAGCTGCTGAGACAGACACGGCTCAGCCAGTTTGTTGTTCCCTACACGACCTCCCAGAGCCTTTGTTGAAGCTCCTGTGCAAGGTCTGTCTCACAGCAGGACACCCCAGACCTCCATACCCCTTGTCCCGTTGATCACTTGGACCTGTGTTTGCTGGGCCAACCTGCCCAGGTGCCACCCGGAGTGTGCCCTGTGTGTCCCTCCAAACTGCAGGTCCTCCCCGGGGTTCTGTCCAGGACCACTCTACAGACACGAGT... | pathogenic | 297,115 |
Gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) variant at chromosome 19, position 11034121—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Rhabdoid_tumor_predisposition_syndrome_2'] | AGGAGGTGGTTGAGTTGTGTGTCCCCGTTGGCAGGCCGGCAGCAGGCGGAAGCTGCACCTCAGGGCTGGGGGCGCGTTGGGGAGGGCTGGCCCTGCCAGGAAGTGTGCTGACAGGGCAGGAGGGCTGAGCGGCAGACACAAGGCACTCCTGGTCCCCACCAGCTGTGGCCTCTGCCACCCCATGGGTGCCAGTCTTAAGTTTCAGAGCATCACTGGTACTCACCCTGGTCCTGCAGCTCCTGGGCCCAGAGACAGGATTTCGTGTTAGCCTCCTCGTACTGTGCTGGGGTGATGATAAAACTAACAACCCAGGCTGGACG... | AGGAGGTGGTTGAGTTGTGTGTCCCCGTTGGCAGGCCGGCAGCAGGCGGAAGCTGCACCTCAGGGCTGGGGGCGCGTTGGGGAGGGCTGGCCCTGCCAGGAAGTGTGCTGACAGGGCAGGAGGGCTGAGCGGCAGACACAAGGCACTCCTGGTCCCCACCAGCTGTGGCCTCTGCCACCCCATGGGTGCCAGTCTTAAGTTTCAGAGCATCACTGGTACTCACCCTGGTCCTGCAGCTCCTGGGCCCAGAGACAGGATTTCGTGTTAGCCTCCTCGTACTGTGCTGGGGTGATGATAAAACTAACAACCCAGGCTGGACG... | pathogenic | 297,211 |
A mutation at chromosome position 11034906 on chromosome 19 in gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GCACTGTGAGAGTGGCAGGGCCCACAGCCAAACCAAGCACTGCCACAACACGGCCGAGCTTCGGCCCCCTGTTGTAAATGGTGCTCGACTGTGTAGGTCCACGCTGTGGGGAGCTGTGCCGCTGCCACGGGAGCTGCTTGAGAATATAATCCCCTGGGGGGTTGGTGCTTTCTTCCCGAATATCTGTGGGGTCCCAATAAGGTAGAAGGTGGCACTTCTGGAGGAACGTGATGAGAGTCCCCTTCCCCCGAGGGACACATGGCGGCCCAGGCTCCACCAGCTCTGTTTTCATGCGGCGGCAGGTCAGGCTGGGCAGAATT... | GCACTGTGAGAGTGGCAGGGCCCACAGCCAAACCAAGCACTGCCACAACACGGCCGAGCTTCGGCCCCCTGTTGTAAATGGTGCTCGACTGTGTAGGTCCACGCTGTGGGGAGCTGTGCCGCTGCCACGGGAGCTGCTTGAGAATATAATCCCCTGGGGGGTTGGTGCTTTCTTCCCGAATATCTGTGGGGTCCCAATAAGGTAGAAGGTGGCACTTCTGGAGGAACGTGATGAGAGTCCCCTTCCCCCGAGGGACACATGGCGGCCCAGGCTCCACCAGCTCTGTTTTCATGCGGCGGCAGGTCAGGCTGGGCAGAATT... | benign | 297,235 |
Does the genetic variant at chromosome 19, position 11041405, impacting gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Rhabdoid_tumor_predisposition_syndrome_2'] | AAAAAAGGGAAATGACCTAAATGCCCAAGAACAAGGGGAGGCTAAATTAGGGCACGTTGTGCACTGAAACACTAAACAGACATTAAAAAATTTTGTTGTAGAAAATTACAGGAAAAGATATCCATGACACAGCCAGCAGTGTGGCACGTGGGCTACAATTCCAGCGTGGCCTTCAGTTCTGCACACGTGCGTCAAAGGTGGGGAGAGTTCTGGTGGTGGGTGGCGCTGAGGGCTGCACAACACTGGGGACGTGCCTAATGCCCCTGAACTGTGTACTAAAACATGGCTGCTTTGGTAAATTTTATGTTATATATGATTTA... | AAAAAAGGGAAATGACCTAAATGCCCAAGAACAAGGGGAGGCTAAATTAGGGCACGTTGTGCACTGAAACACTAAACAGACATTAAAAAATTTTGTTGTAGAAAATTACAGGAAAAGATATCCATGACACAGCCAGCAGTGTGGCACGTGGGCTACAATTCCAGCGTGGCCTTCAGTTCTGCACACGTGCGTCAAAGGTGGGGAGAGTTCTGGTGGTGGGTGGCGCTGAGGGCTGCACAACACTGGGGACGTGCCTAATGCCCCTGAACTGTGTACTAAAACATGGCTGCTTTGGTAAATTTTATGTTATATATGATTTA... | pathogenic | 297,326 |
For chromosome 19, position 11059783, gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Rhabdoid_tumor_predisposition_syndrome_2'] | ACAAAAAACAAAAAAATGTATCACAGGCCTGTTTGTGTGGTTGTCTCTGGGAAATGTTCCAGAAGCTACAAGAAAGCACATGTGCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGATGCTGAGGCGGGCTGATCACCTGAGGTCGGGAGTTTGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCTGGCATGGTGGTGCACGACTGTAAAAAATCCCAGTGACTCCAAAGGCTGAGGCAGGAGAATCTCCTGAACCTGGGAGGTGGAGGTTGCAGTGAGCC... | ACAAAAAACAAAAAAATGTATCACAGGCCTGTTTGTGTGGTTGTCTCTGGGAAATGTTCCAGAAGCTACAAGAAAGCACATGTGCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGATGCTGAGGCGGGCTGATCACCTGAGGTCGGGAGTTTGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCTGGCATGGTGGTGCACGACTGTAAAAAATCCCAGTGACTCCAAAGGCTGAGGCAGGAGAATCTCCTGAACCTGGGAGGTGGAGGTTGCAGTGAGCC... | pathogenic | 297,415 |
Does the variant on chromosome 19 at location 11089550 affecting gene LDLR have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | ATTTATAAACGTTGCAGCAGCTCCTAGAACTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATC... | ATTTATAAACGTTGCAGCAGCTCCTAGAACTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATC... | pathogenic | 297,484 |
The chromosome 19, position 11089554 genetic variant in gene LDLR: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ATAAACGTTGCAGCAGCTCCTAGAACTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACC... | ATAAACGTTGCAGCAGCTCCTAGAACTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACC... | pathogenic | 297,487 |
A genetic alteration at chromosome 19, position 11089579, in gene LDLR—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGG... | CTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGG... | pathogenic | 297,494 |
Gene LDLR variant at chromosome position 11089587 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | TCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGG... | TCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGG... | pathogenic | 297,495 |
Is the chromosome 19, position 11100230 variant in LDLR (low density lipoprotein receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAA... | GTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAA... | pathogenic | 297,516 |
Variant in gene LDLR (low density lipoprotein receptor), located at chromosome 19 position 11100262: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCAGCCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGT... | CCAGCCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGT... | pathogenic | 297,529 |
Variant in LDLR (low density lipoprotein receptor), chromosome 19, position 11100266—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCT... | CCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCT... | pathogenic | 297,531 |
Does the variant on chromosome 19 at location 11100271 affecting gene LDLR (low density lipoprotein receptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGT... | GTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGT... | pathogenic | 297,532 |
Is the chromosome 19, position 11100271 variant in LDLR (low density lipoprotein receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGT... | GTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGT... | pathogenic | 297,533 |
Variant at chromosome position 11100272, chromosome 19, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTC... | TGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTC... | pathogenic | 297,534 |
Is the variant located on chromosome 19 at position 11100291, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTG... | CTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTG... | pathogenic | 297,540 |
Classify the chromosome 19 variant at position 11100344 affecting gene LDLR (low density lipoprotein receptor) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCA... | TAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCA... | pathogenic | 297,555 |
Is the genetic variant on chromosome 19, position 11100344, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCA... | TAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCA... | pathogenic | 297,556 |
Does the genetic variant at chromosome 19, position 11102662, impacting gene LDLR (low density lipoprotein receptor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTT... | TTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTT... | pathogenic | 297,563 |
Clinically, how would you classify the variant at chromosome 19, position 11102667, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTA... | GCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTA... | pathogenic | 297,567 |
Variant chromosome 19, position 11102667, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTA... | GCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTA... | pathogenic | 297,568 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 11102683, gene LDLR (low density lipoprotein receptor). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | ATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGG... | ATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGG... | pathogenic | 297,572 |
Evaluate the clinical significance of the mutation at chromosome 19, position 11102698 in gene LDLR (low density lipoprotein receptor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTA... | GATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTA... | pathogenic | 297,576 |
A genetic variant at chromosome 19, position 11102698, affecting gene LDLR (low density lipoprotein receptor)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTA... | GATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTA... | pathogenic | 297,577 |
Chromosome 19, position 11102703, gene LDLR (low density lipoprotein receptor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGG... | GAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGG... | pathogenic | 297,578 |
The genetic variant at chromosome 19, position 11102705, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | ATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGA... | ATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGA... | pathogenic | 297,580 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 11102708, gene LDLR (low density lipoprotein receptor). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGG... | TCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGG... | pathogenic | 297,581 |
Determine if the mutation at chromosome 19, position 11102714 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGA... | AACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGA... | pathogenic | 297,583 |
Is the chromosome 19, position 11102716 variant in LDLR (low density lipoprotein receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATC... | CATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATC... | pathogenic | 297,584 |
Clinically, how would you classify the variant at chromosome 19, position 11102722, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | ATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGA... | ATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGA... | pathogenic | 297,589 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 11102734, gene LDLR (low density lipoprotein receptor). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCA... | AGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCA... | pathogenic | 297,593 |
Determine if the mutation at chromosome 19, position 11102745 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_hypercholesterolemia'] | TACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGC... | TACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGC... | pathogenic | 297,605 |
Does the chromosome 19 mutation at position 11102775 within gene LDLR (low density lipoprotein receptor) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAG... | CTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAG... | pathogenic | 297,621 |
Evaluate if the mutation on chromosome 19 at position 11102781 in LDLR (low density lipoprotein receptor) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCA... | TGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCA... | pathogenic | 297,624 |
Variant at chromosome position 11102785, chromosome 19, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCC... | CCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCC... | pathogenic | 297,628 |
Variant at chromosome 19, position 11102786, gene LDLR (low density lipoprotein receptor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCC... | CAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCC... | pathogenic | 297,629 |
Mutation found at chromosome 19 position 11102787, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCG... | AAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCG... | pathogenic | 297,631 |
Mutation found at chromosome 19 position 11105219, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTC... | GAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTC... | pathogenic | 297,641 |
Considering the genetic mutation at chromosome 19, position 11105220, impacting LDLR (low density lipoprotein receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCA... | AAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCA... | pathogenic | 297,642 |
Considering the variant on chromosome 19, location 11105221, involving gene LDLR (low density lipoprotein receptor), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCAC... | AGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCAC... | pathogenic | 297,643 |
Regarding the variant at chromosome 19 and position 11105230, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAAT... | AGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAAT... | pathogenic | 297,648 |
Regarding the variant found on chromosome 19 at position 11105242 in gene LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTG... | CTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTG... | pathogenic | 297,653 |
Determine if the mutation at chromosome 19, position 11105243 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGA... | TGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGA... | pathogenic | 297,656 |
Does the genetic variant at chromosome 19, position 11105244, impacting gene LDLR (low density lipoprotein receptor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAG... | GCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAG... | pathogenic | 297,657 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome position 11105244 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAG... | GCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAG... | pathogenic | 297,658 |
Located at chromosome 19 position 11105250, the variant affecting gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTG... | GAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTG... | pathogenic | 297,660 |
Clinical classification of chromosome 19, position 11105255, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCG... | AGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCG... | pathogenic | 297,663 |
Evaluate the clinical significance of the mutation at chromosome 19, position 11105258 in gene LDLR (low density lipoprotein receptor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGT... | CCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGT... | pathogenic | 297,666 |
Variant at chromosome 19, position 11105270, gene LDLR (low density lipoprotein receptor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAG... | AAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAG... | pathogenic | 297,671 |
A genetic alteration at chromosome 19, position 11105273, in gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTC... | GGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTC... | pathogenic | 297,672 |
Chromosome 19, position 11105279, gene LDLR (low density lipoprotein receptor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGT... | GGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGT... | pathogenic | 297,674 |
Is the genetic mutation found on chromosome 19 at position 11105283, within the gene LDLR (low density lipoprotein receptor), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGA... | TTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGA... | pathogenic | 297,678 |
Clinical significance of chromosome 19, position 11105287, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGC... | AAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGC... | pathogenic | 297,680 |
Clinically, how would you classify the variant at chromosome 19, position 11105326, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAA... | CATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAA... | pathogenic | 297,700 |
The mutation in gene LDLR (low density lipoprotein receptor) at chromosome 19, position 11105353—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCG... | AAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCG... | pathogenic | 297,717 |
Variant in gene LDLR (low density lipoprotein receptor), located at chromosome 19 position 11105354: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGT... | AGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGT... | pathogenic | 297,718 |
Chromosome 19, position 11105371, gene LDLR (low density lipoprotein receptor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | ATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGC... | ATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGC... | pathogenic | 297,727 |
Determine whether the variant at chromosome 19, position 11105377, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCG... | AAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCG... | pathogenic | 297,728 |
Chromosome 19, position 11105385, gene LDLR (low density lipoprotein receptor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTG... | TGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTG... | pathogenic | 297,735 |
Chromosome 19, position 11105415, gene LDLR (low density lipoprotein receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGC... | TTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGC... | pathogenic | 297,752 |
Considering the genetic mutation at chromosome 19, position 11105415, impacting LDLR (low density lipoprotein receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGC... | TTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGC... | pathogenic | 297,753 |
A mutation at chromosome position 11105423 on chromosome 19 in gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | TTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTG... | TTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTG... | pathogenic | 297,763 |
Does the genetic variant at chromosome 19, position 11105431, impacting gene LDLR (low density lipoprotein receptor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGC... | TTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGC... | pathogenic | 297,768 |
Mutation at chromosome 19, position 11105438, within LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATC... | TTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATC... | pathogenic | 297,774 |
The genetic variant at chromosome 19, position 11105459, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTG... | CCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTG... | pathogenic | 297,785 |
Classify the chromosome 19 variant at position 11105463 affecting gene LDLR (low density lipoprotein receptor) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | ATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGG... | ATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGG... | pathogenic | 297,787 |
Variant in LDLR (low density lipoprotein receptor), chromosome 19, position 11105465—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGAC... | TAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGAC... | pathogenic | 297,788 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome 19, position 11105471—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGC... | AAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGC... | pathogenic | 297,792 |
Regarding the variant found on chromosome 19 at position 11105483 in gene LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCT... | GACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCT... | pathogenic | 297,795 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome 19, position 11105486—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | CGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAA... | CGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAA... | pathogenic | 297,796 |
Located at chromosome 19 position 11105487, the variant affecting gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAA... | GAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAA... | pathogenic | 297,797 |
A genetic alteration at chromosome 19, position 11105514, in gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACT... | CAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACT... | pathogenic | 297,811 |
Assess the variant on chromosome 19, position 11105520, impacting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAA... | GGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAA... | pathogenic | 297,816 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome 19, position 11105521—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAAC... | GGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAAC... | pathogenic | 297,817 |
Evaluate the clinical significance of the mutation at chromosome 19, position 11105522 in gene LDLR (low density lipoprotein receptor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACT... | GTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACT... | pathogenic | 297,818 |
Mutation found at chromosome 19 position 11105529, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTT... | ACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTT... | pathogenic | 297,823 |
The chromosome 19, position 11105537 genetic variant in gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATG... | TCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATG... | pathogenic | 297,825 |
The chromosome 19, position 11105551 genetic variant in gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACA... | CCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACA... | pathogenic | 297,830 |
Variant on chromosome 19, at position 11105552, affecting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAG... | CAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAG... | pathogenic | 297,832 |
Chromosome 19, position 11105553, gene LDLR (low density lipoprotein receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGC... | AGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGC... | pathogenic | 297,834 |
Is the chromosome 19, position 11105555 variant in LDLR (low density lipoprotein receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCC... | CCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCC... | pathogenic | 297,835 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 11105556, gene LDLR (low density lipoprotein receptor): what disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCT... | CTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCT... | pathogenic | 297,836 |
Is the variant located on chromosome 19 at position 11105557, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTC... | TTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTC... | pathogenic | 297,838 |
Mutation at chromosome 19, position 11105560, within LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTG... | TGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTG... | pathogenic | 297,839 |
Does the chromosome 19 mutation at position 11105562 within gene LDLR (low density lipoprotein receptor) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCG... | AGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCG... | pathogenic | 297,840 |
Assess the variant on chromosome 19, position 11105565, impacting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAA... | GGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAA... | pathogenic | 297,841 |
Regarding the variant at chromosome 19 and position 11105565, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAA... | GGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAA... | pathogenic | 297,842 |
Clinical significance of chromosome 19, position 11105566, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAA... | GCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAA... | pathogenic | 297,843 |
Located at chromosome 19 position 11105567, the variant affecting gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | CTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAAT... | CTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAAT... | pathogenic | 297,846 |
The genetic variant at chromosome 19, position 11105567, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAAT... | CTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAAT... | pathogenic | 297,848 |
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