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 |
|---|---|---|---|---|---|
A genetic alteration at chromosome 19, position 11113607, in gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGG... | TGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGG... | pathogenic | 298,344 |
A genetic variant on chromosome 19, position 11113633, affects the gene LDLR (low density lipoprotein receptor). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | CAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCA... | CAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCA... | pathogenic | 298,357 |
Considering the genetic mutation at chromosome 19, position 11113651, 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', 'Hypercholesterolemia,_familial,_1', 'LDLR-related_disorder'] | CAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTG... | CAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTG... | pathogenic | 298,369 |
Considering the genetic mutation at chromosome 19, position 11113653, impacting LDLR (low density lipoprotein receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGAC... | GCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGAC... | pathogenic | 298,370 |
The chromosome 19, position 11113660 genetic variant in gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGG... | CCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGG... | pathogenic | 298,371 |
Determine if the mutation at chromosome 19, position 11113666 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1', 'LDLR-related_disorder'] | ACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAA... | ACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAA... | pathogenic | 298,374 |
Evaluate the clinical significance of the mutation at chromosome 19, position 11113668 in gene LDLR (low density lipoprotein receptor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAG... | GAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAG... | pathogenic | 298,376 |
Clinical classification of chromosome 19, position 11113672, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAA... | GCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAA... | pathogenic | 298,378 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome 19, position 11113677—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAAT... | CAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAAT... | pathogenic | 298,379 |
A genetic variant at chromosome 19, position 11113704, affecting gene LDLR (low density lipoprotein receptor)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGT... | GGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGT... | pathogenic | 298,385 |
For chromosome 19, position 11113708, gene LDLR (low density lipoprotein receptor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTC... | GGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTC... | pathogenic | 298,387 |
For chromosome 19, position 11113722, gene LDLR (low density lipoprotein receptor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAA... | CACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAA... | pathogenic | 298,390 |
The mutation impacting LDLR (low density lipoprotein receptor) on chromosome 19 at position 11116113: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATG... | CACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATG... | pathogenic | 298,413 |
A genetic variant at chromosome 19, position 11116134, affecting gene LDLR (low density lipoprotein receptor)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACA... | ACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACA... | pathogenic | 298,420 |
Chromosome 19, position 11116136, gene LDLR (low density lipoprotein receptor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACT... | AGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACT... | pathogenic | 298,421 |
Is the chromosome 19, position 11116139 variant in LDLR (low density lipoprotein receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia'] | GTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGA... | GTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGA... | pathogenic | 298,423 |
Clinical significance of chromosome 19, position 11116147, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCAC... | CCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCAC... | pathogenic | 298,434 |
Considering the genetic mutation at chromosome 19, position 11116166, impacting LDLR (low density lipoprotein receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGA... | AAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGA... | pathogenic | 298,439 |
For chromosome 19, position 11116168, gene LDLR (low density lipoprotein receptor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAA... | AAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAA... | pathogenic | 298,440 |
Is the genetic change at chromosome 19, position 11116193, within gene LDLR (low density lipoprotein receptor) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGAT... | GCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGAT... | pathogenic | 298,450 |
Determine whether the variant at chromosome 19, position 11116205, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGA... | GATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGA... | pathogenic | 298,457 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome position 11116211 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGG... | ATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGG... | pathogenic | 298,461 |
Clinically, how would you classify the variant at chromosome 19, position 11116214, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCC... | TTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCC... | pathogenic | 298,465 |
Variant in gene LDLR (low density lipoprotein receptor), located at chromosome 19 position 11116868: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACA... | ATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACA... | pathogenic | 298,485 |
Clinical significance of chromosome 19, position 11116869, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAA... | TTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAA... | pathogenic | 298,486 |
Variant in LDLR (low density lipoprotein receptor), chromosome 19, position 11116889—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCA... | AGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCA... | pathogenic | 298,497 |
Considering the genetic mutation at chromosome 19, position 11116899, impacting LDLR (low density lipoprotein receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATG... | TGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATG... | pathogenic | 298,500 |
Variant at chromosome position 11116903, chromosome 19, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTG... | GCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTG... | pathogenic | 298,505 |
Is the genetic change at chromosome 19, position 11116908, within gene LDLR (low density lipoprotein receptor) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTA... | GGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTA... | pathogenic | 298,508 |
Mutation at chromosome 19, position 11116926, within LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTT... | TGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTT... | pathogenic | 298,514 |
Does the variant impacting LDLR (low density lipoprotein receptor) on chromosome 19, position 11116935, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACAT... | CTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACAT... | pathogenic | 298,519 |
The genetic variant at chromosome 19, position 11116957, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype'] | AGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAG... | AGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAG... | pathogenic | 298,525 |
Evaluate if the mutation on chromosome 19 at position 11116965 in LDLR (low density lipoprotein receptor) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTC... | GTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTC... | pathogenic | 298,526 |
Located at chromosome 19 position 11116979, the variant affecting gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACT... | TCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACT... | pathogenic | 298,533 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 11116997, gene LDLR (low density lipoprotein receptor): what disease(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTG... | AGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTG... | pathogenic | 298,540 |
Does the genetic variant at chromosome 19, position 11116999, impacting gene LDLR (low density lipoprotein receptor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia'] | GATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTT... | GATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTT... | pathogenic | 298,544 |
Regarding the variant at chromosome 19 and position 11120094, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_hypercholesterolemia'] | AAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGG... | AAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGG... | pathogenic | 298,555 |
Is the variant located on chromosome 19 at position 11120112, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | AGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAG... | AGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAG... | pathogenic | 298,567 |
Determine if the mutation at chromosome 19, position 11120112 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAG... | AGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAG... | pathogenic | 298,568 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 11120122, gene LDLR (low density lipoprotein receptor): what disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGG... | GTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGG... | pathogenic | 298,571 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome 19, position 11120128—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTG... | GGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTG... | pathogenic | 298,576 |
Clinical significance of chromosome 19, position 11120147, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | ACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGA... | ACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGA... | pathogenic | 298,581 |
Is the chromosome 19, position 11120155 variant in LDLR (low density lipoprotein receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAA... | CGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAA... | pathogenic | 298,582 |
Chromosome 19, position 11120176, gene LDLR (low density lipoprotein receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | TAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGC... | TAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGC... | pathogenic | 298,588 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 11120180, gene LDLR (low density lipoprotein receptor): what disease(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATC... | GATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATC... | pathogenic | 298,589 |
A genetic variant at chromosome 19, position 11120192, affecting gene LDLR (low density lipoprotein receptor)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCC... | CCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCC... | pathogenic | 298,594 |
Variant at chromosome 19, position 11120197, gene LDLR (low density lipoprotein receptor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTC... | TTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTC... | pathogenic | 298,598 |
The mutation impacting LDLR (low density lipoprotein receptor) on chromosome 19 at position 11120203: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGA... | AGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGA... | pathogenic | 298,600 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 11120208, gene LDLR (low density lipoprotein receptor). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGG... | GGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGG... | pathogenic | 298,604 |
Does the variant on chromosome 19 at location 11120379 affecting gene LDLR (low density lipoprotein receptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAAC... | TCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAAC... | pathogenic | 298,626 |
Is the genetic variant on chromosome 19, position 11120396, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCA... | TGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCA... | pathogenic | 298,636 |
Clinical significance of chromosome 19, position 11120403, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGAT... | AGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGAT... | pathogenic | 298,637 |
Does the chromosome 19 mutation at position 11120407 within gene LDLR (low density lipoprotein receptor) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | AATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCT... | AATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCT... | pathogenic | 298,641 |
Variant at chromosome position 11120411, chromosome 19, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAG... | GGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAG... | pathogenic | 298,644 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome 19, position 11120432—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGA... | TGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGA... | pathogenic | 298,655 |
For chromosome 19, position 11120432, gene LDLR (low density lipoprotein receptor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | TGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGA... | TGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGA... | pathogenic | 298,656 |
Considering the genetic mutation at chromosome 19, position 11120442, impacting LDLR (low density lipoprotein receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGC... | CTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGC... | pathogenic | 298,663 |
Is the variant located on chromosome 19 at position 11120442, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGC... | CTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGC... | pathogenic | 298,664 |
Determine whether the variant at chromosome 19, position 11120443, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCC... | TGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCC... | pathogenic | 298,665 |
Evaluate this variant at chromosome 19, position 11120445, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAA... | GTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAA... | pathogenic | 298,666 |
Is the genetic mutation found on chromosome 19 at position 11120445, 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'] | GTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAA... | GTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAA... | pathogenic | 298,667 |
Is chromosome 19, position 11120458, gene LDLR (low density lipoprotein receptor) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | ACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTC... | ACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTC... | pathogenic | 298,671 |
Chromosome 19, position 11120465, gene LDLR (low density lipoprotein receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCT... | GAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCT... | pathogenic | 298,672 |
Chromosome 19, position 11120473, gene LDLR (low density lipoprotein receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAA... | AAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAA... | pathogenic | 298,678 |
The mutation impacting LDLR (low density lipoprotein receptor) on chromosome 19 at position 11120475: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATA... | GTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATA... | pathogenic | 298,682 |
Benign or pathogenic: chromosome 19, position 11120487, gene LDLR (low density lipoprotein receptor) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGC... | AGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGC... | pathogenic | 298,686 |
Assess the variant on chromosome 19, position 11123198, impacting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | CTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTG... | CTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTG... | pathogenic | 298,704 |
The genetic variant at chromosome 19, position 11123209, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGA... | TGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGA... | pathogenic | 298,706 |
Located at chromosome 19 position 11123211, 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', 'Hypercholesterolemia,_familial,_1'] | AATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGT... | AATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGT... | pathogenic | 298,709 |
Regarding the variant found on chromosome 19 at position 11123215 in gene LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAG... | TCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAG... | pathogenic | 298,711 |
Assess the variant on chromosome 19, position 11123216, 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'] | CCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGT... | CCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGT... | pathogenic | 298,712 |
The mutation in gene LDLR (low density lipoprotein receptor) at chromosome 19, position 11123231—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCT... | ACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCT... | pathogenic | 298,714 |
Does the variant on chromosome 19 at location 11123239 affecting gene LDLR (low density lipoprotein receptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAG... | CAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAG... | pathogenic | 298,716 |
A genetic alteration at chromosome 19, position 11123265, in gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cardiovascular_phenotype'] | CACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTT... | CACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTT... | pathogenic | 298,721 |
Regarding the variant at chromosome 19 and position 11123294, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTT... | GAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTT... | pathogenic | 298,726 |
Is the chromosome 19, position 11123298 variant in LDLR (low density lipoprotein receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAG... | TGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAG... | pathogenic | 298,728 |
Determine whether the variant at chromosome 19, position 11123299, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGC... | GTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGC... | pathogenic | 298,729 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 11123303, gene LDLR (low density lipoprotein receptor). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTT... | GGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTT... | pathogenic | 298,730 |
Evaluate the clinical significance of the mutation at chromosome 19, position 11123304 in gene LDLR (low density lipoprotein receptor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTC... | GATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTC... | pathogenic | 298,731 |
Evaluate this variant at chromosome 19, position 11123324, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAG... | TCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAG... | pathogenic | 298,735 |
Clinical significance of chromosome 19, position 11123325, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGT... | CAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGT... | pathogenic | 298,736 |
Evaluate if the mutation on chromosome 19 at position 11128029 in LDLR (low density lipoprotein receptor) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCACGAGAATCGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGAGGACAAGAGTGAAACTCCATTCCCCTCTGCAAAGAAAAGGAATATTATCAGATTCCTAAGCTTTTTGGCTCCCCCTTTAGTTTGGGGGCTGGGGTGGTGAGTGTCTGACCTGGCCTCACTGTCCTCCCTGGATGTGATGAGACCCAGGTGTGGGTCAGGATGTCATTCGTTTGTCCACCAGAGGGCGCCCAAACTGCTTT... | GGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCACGAGAATCGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGAGGACAAGAGTGAAACTCCATTCCCCTCTGCAAAGAAAAGGAATATTATCAGATTCCTAAGCTTTTTGGCTCCCCCTTTAGTTTGGGGGCTGGGGTGGTGAGTGTCTGACCTGGCCTCACTGTCCTCCCTGGATGTGATGAGACCCAGGTGTGGGTCAGGATGTCATTCGTTTGTCCACCAGAGGGCGCCCAAACTGCTTT... | pathogenic | 298,751 |
Clinically, how would you classify the variant at chromosome 19, position 11128077, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ACGAGAATCGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGAGGACAAGAGTGAAACTCCATTCCCCTCTGCAAAGAAAAGGAATATTATCAGATTCCTAAGCTTTTTGGCTCCCCCTTTAGTTTGGGGGCTGGGGTGGTGAGTGTCTGACCTGGCCTCACTGTCCTCCCTGGATGTGATGAGACCCAGGTGTGGGTCAGGATGTCATTCGTTTGTCCACCAGAGGGCGCCCAAACTGCTTTGAGCTGCTGGGAAATGGTGCTCCTAGACTTTTAGCAAACAAACAAAAA... | ACGAGAATCGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGAGGACAAGAGTGAAACTCCATTCCCCTCTGCAAAGAAAAGGAATATTATCAGATTCCTAAGCTTTTTGGCTCCCCCTTTAGTTTGGGGGCTGGGGTGGTGAGTGTCTGACCTGGCCTCACTGTCCTCCCTGGATGTGATGAGACCCAGGTGTGGGTCAGGATGTCATTCGTTTGTCCACCAGAGGGCGCCCAAACTGCTTTGAGCTGCTGGGAAATGGTGCTCCTAGACTTTTAGCAAACAAACAAAAA... | pathogenic | 298,755 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 11128099, gene LDLR (low density lipoprotein receptor): what disease(s) if pathogenic? | benign | AGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGAGGACAAGAGTGAAACTCCATTCCCCTCTGCAAAGAAAAGGAATATTATCAGATTCCTAAGCTTTTTGGCTCCCCCTTTAGTTTGGGGGCTGGGGTGGTGAGTGTCTGACCTGGCCTCACTGTCCTCCCTGGATGTGATGAGACCCAGGTGTGGGTCAGGATGTCATTCGTTTGTCCACCAGAGGGCGCCCAAACTGCTTTGAGCTGCTGGGAAATGGTGCTCCTAGACTTTTAGCAAACAAACAAAAAAAAATGGCACATCGGCAAATTT... | AGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGAGGACAAGAGTGAAACTCCATTCCCCTCTGCAAAGAAAAGGAATATTATCAGATTCCTAAGCTTTTTGGCTCCCCCTTTAGTTTGGGGGCTGGGGTGGTGAGTGTCTGACCTGGCCTCACTGTCCTCCCTGGATGTGATGAGACCCAGGTGTGGGTCAGGATGTCATTCGTTTGTCCACCAGAGGGCGCCCAAACTGCTTTGAGCTGCTGGGAAATGGTGCTCCTAGACTTTTAGCAAACAAACAAAAAAAAATGGCACATCGGCAAATTT... | benign | 298,765 |
A mutation at chromosome position 11129514 on chromosome 19 in gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CTTAGGTGATCTGCCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGT... | CTTAGGTGATCTGCCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGT... | pathogenic | 298,776 |
Variant in LDLR (low density lipoprotein receptor), chromosome 19, position 11129519—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GTGATCTGCCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTA... | GTGATCTGCCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTA... | pathogenic | 298,778 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome 19, position 11129522—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ATCTGCCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCC... | ATCTGCCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCC... | pathogenic | 298,780 |
Determine if the mutation at chromosome 19, position 11129534 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1', 'LDLR-related_disorder'] | TAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGA... | TAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGA... | pathogenic | 298,782 |
Determine whether the variant at chromosome 19, position 11129534, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGA... | TAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGA... | pathogenic | 298,783 |
Considering the variant on chromosome 19, location 11129540, 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'] | CCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTC... | CCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTC... | pathogenic | 298,785 |
Is the genetic variant on chromosome 19, position 11129568, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTC... | CCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTC... | pathogenic | 298,792 |
Classify the chromosome 19 variant at position 11129597 affecting gene LDLR (low density lipoprotein receptor) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCT... | TTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCT... | pathogenic | 298,797 |
The chromosome 19, position 11129630 genetic variant in gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAG... | TTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAG... | pathogenic | 298,806 |
The chromosome 19, position 11129663 genetic variant in gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCA... | AAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCA... | pathogenic | 298,811 |
Mutation found at chromosome 19 position 11129668, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTC... | TCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTC... | pathogenic | 298,812 |
Located at chromosome 19 position 11133511, the variant affecting gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACATGGAAGATGAAAGGGGAGGGGATGTCAGGCCCAGAGAAGCAAGTGGCTTTCAACACACAACAGCAGATGGCACCAACGGGACCCCCTGGCCCTGCCTCATCCACCAATCTCTAAGCCAAACCCCTAAACTCAGGAGTCAACGTGTTTACCTCTTCTATGCAAGCCTT... | GACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACATGGAAGATGAAAGGGGAGGGGATGTCAGGCCCAGAGAAGCAAGTGGCTTTCAACACACAACAGCAGATGGCACCAACGGGACCCCCTGGCCCTGCCTCATCCACCAATCTCTAAGCCAAACCCCTAAACTCAGGAGTCAACGTGTTTACCTCTTCTATGCAAGCCTT... | benign | 298,853 |
Classify the chromosome 19 variant at position 11200950 affecting gene DOCK6 (dedicator of cytokinesis 6) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Adams-Oliver_syndrome_2'] | AAAAAAAGCCAGGCACAGTGGCATGTGCCTATAATCTCTGCTACTCAGGAGGCTTGAGCCCCGGAGTTTGAGGCTGCAGTGAGCTATGACTGTGACACTGCATTCCAGCCTGGGGGACTGAGTGAGAGCGTCTGTTAAAAACAAACAAACAAAAACCAGGTATTGTTATTGCAGGTAAGCATGTGACATTATTTGTGTGTTGCCTTCCCTACTAGAACATCAGCTCCACAAGGGCAGGAATTTTTGCCTGTTGTCACCACGATGTCCCTGGCACCCAGTATGTTCTTGGTGTCCCCATTGATGATGCAGGGATGTGTGGA... | AAAAAAAGCCAGGCACAGTGGCATGTGCCTATAATCTCTGCTACTCAGGAGGCTTGAGCCCCGGAGTTTGAGGCTGCAGTGAGCTATGACTGTGACACTGCATTCCAGCCTGGGGGACTGAGTGAGAGCGTCTGTTAAAAACAAACAAACAAAAACCAGGTATTGTTATTGCAGGTAAGCATGTGACATTATTTGTGTGTTGCCTTCCCTACTAGAACATCAGCTCCACAAGGGCAGGAATTTTTGCCTGTTGTCACCACGATGTCCCTGGCACCCAGTATGTTCTTGGTGTCCCCATTGATGATGCAGGGATGTGTGGA... | pathogenic | 298,914 |
The mutation impacting DOCK6 on chromosome 19 at position 11211989: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Adams-Oliver_syndrome_2', 'Inborn_genetic_diseases'] | ACCTGTCCACCCTCTCACCTGCCCGCCCTCACCTGTCCACCCTCTCACCTGCCCATCCCTCACCTGCCCACCTTCTCACCTGTCCACCGTCTCACCTGTCCACCCTCTCACCTGTCCATCCCTTCACTTGTCTATCCCCTCACCTGCCCACCTTCTCACCTGTCCACCTCTCACCTGTCTATCCCCTTACCTGTCCACTCTCTCACCTGTCCACCCCTCACCTGCCCACCCTCTCACCTGTCCATCCCTTCAGCTGTTTGTCCCCTCATCTGTCCACCCCTCACCTGTCCATCCCCTCACTGTCTCTTCACCTGTCCACC... | ACCTGTCCACCCTCTCACCTGCCCGCCCTCACCTGTCCACCCTCTCACCTGCCCATCCCTCACCTGCCCACCTTCTCACCTGTCCACCGTCTCACCTGTCCACCCTCTCACCTGTCCATCCCTTCACTTGTCTATCCCCTCACCTGCCCACCTTCTCACCTGTCCACCTCTCACCTGTCTATCCCCTTACCTGTCCACTCTCTCACCTGTCCACCCCTCACCTGCCCACCCTCTCACCTGTCCATCCCTTCAGCTGTTTGTCCCCTCATCTGTCCACCCCTCACCTGTCCATCCCCTCACTGTCTCTTCACCTGTCCACC... | pathogenic | 298,939 |
Chromosome 19, position 11215472, gene DOCK6: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GTGTTCTGTCCTCTTTGGCCAAGTACCACTGGGTTCGGAGTCAGACCTGGGTTTAAGCCCCTTGCTGTGTGACCCCAGGTGAGTGACTTGGCCACTCTGATTCTGCCTTCCTTCCACTGTAAACTGTGGCAAAGCAGTCAGCTCCATGGAGTTGCAGAGCACACAGTAAGTGCTCAATGAATGAGCTCCTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTCTCCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCACTGCAGCTTTGAACTCCCAGGCTCAAGCCATCCTCCTGCCTCAGCCTCCCTAGTA... | GTGTTCTGTCCTCTTTGGCCAAGTACCACTGGGTTCGGAGTCAGACCTGGGTTTAAGCCCCTTGCTGTGTGACCCCAGGTGAGTGACTTGGCCACTCTGATTCTGCCTTCCTTCCACTGTAAACTGTGGCAAAGCAGTCAGCTCCATGGAGTTGCAGAGCACACAGTAAGTGCTCAATGAATGAGCTCCTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTCTCCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCACTGCAGCTTTGAACTCCCAGGCTCAAGCCATCCTCCTGCCTCAGCCTCCCTAGTA... | benign | 298,964 |
Evaluate if the mutation on chromosome 19 at position 11217055 in DOCK6 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | ATCTCGGCTCACTGTAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCGCTAGTAGCTGGGACTACAGGCACCTGCCACCACACCTGGCTTATTTTTTATATATTTTTTAGTAGAGACAAGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCTGATCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCATGCCCGGCTAATTTTTAAATTTTTGGTAGAGAGGGTCTTACTATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAA... | ATCTCGGCTCACTGTAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCGCTAGTAGCTGGGACTACAGGCACCTGCCACCACACCTGGCTTATTTTTTATATATTTTTTAGTAGAGACAAGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCTGATCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCATGCCCGGCTAATTTTTAAATTTTTGGTAGAGAGGGTCTTACTATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAA... | pathogenic | 298,974 |
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