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 |
|---|---|---|---|---|---|
Determine whether the variant at chromosome 19, position 11105570, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAAC... | AGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAAC... | pathogenic | 297,853 |
Variant on chromosome 19, at position 11105571, affecting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACT... | GGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACT... | pathogenic | 297,856 |
Is the variant located on chromosome 19 at position 11105573, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1', 'LDLR-related_disorder'] | CGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCC... | CGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCC... | pathogenic | 297,859 |
A mutation at chromosome position 11105573 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'] | CGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCC... | CGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCC... | pathogenic | 297,860 |
Evaluate the clinical significance of the mutation at chromosome 19, position 11105573 in gene LDLR (low density lipoprotein receptor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCC... | CGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCC... | pathogenic | 297,861 |
Determine if the mutation at chromosome 19, position 11105575 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTT... | GGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTT... | pathogenic | 297,863 |
For chromosome 19, position 11105575, gene LDLR (low density lipoprotein receptor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTT... | GGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTT... | pathogenic | 297,864 |
Mutation at chromosome 19, position 11105578, within LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATC... | GGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATC... | pathogenic | 297,868 |
For chromosome 19, position 11105579, gene LDLR (low density lipoprotein receptor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_hypercholesterolemia'] | GATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCT... | GATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCT... | pathogenic | 297,869 |
Does the genetic variant at chromosome 19, position 11105580, impacting gene LDLR (low density lipoprotein receptor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTT... | ATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTT... | pathogenic | 297,870 |
The genetic variant at chromosome 19, position 11105582, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | CACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCC... | CACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCC... | pathogenic | 297,872 |
The mutation impacting LDLR (low density lipoprotein receptor) on chromosome 19 at position 11105582: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCC... | CACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCC... | pathogenic | 297,873 |
The mutation impacting LDLR (low density lipoprotein receptor) on chromosome 19 at position 11105585: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGC... | TTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGC... | pathogenic | 297,876 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome 19, position 11105586—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCT... | TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCT... | pathogenic | 297,878 |
Determine if the mutation at chromosome 19, position 11105586 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCT... | TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCT... | pathogenic | 297,879 |
The chromosome 19, position 11105586 genetic variant in gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCT... | TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCT... | pathogenic | 297,880 |
Classify the chromosome 19 variant at position 11105586 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'] | TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCT... | TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCT... | pathogenic | 297,881 |
Clinical significance of chromosome 19, position 11105587, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTC... | GAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTC... | pathogenic | 297,883 |
Evaluate this variant at chromosome 19, position 11105587, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTC... | GAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTC... | pathogenic | 297,886 |
A genetic variant at chromosome 19, position 11105596, affecting gene LDLR (low density lipoprotein receptor)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATC... | AGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATC... | pathogenic | 297,894 |
Variant at chromosome 19, position 11105604, gene LDLR (low density lipoprotein receptor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | AGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACA... | AGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACA... | benign | 297,904 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome position 11106573 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | AGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCA... | AGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCA... | pathogenic | 297,914 |
Mutation found at chromosome 19 position 11106620, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACAC... | GCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACAC... | pathogenic | 297,924 |
Considering the variant on chromosome 19, location 11106646, 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; ['Cardiovascular_phenotype'] | ATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAG... | ATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAG... | pathogenic | 297,934 |
Does the variant on chromosome 19 at location 11106650 affecting gene LDLR (low density lipoprotein receptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGAT... | TTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGAT... | pathogenic | 297,936 |
Evaluate the clinical significance of the mutation at chromosome 19, position 11107393 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'] | ACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGT... | ACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGT... | pathogenic | 297,959 |
Is the variant located on chromosome 19 at position 11107396, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGG... | TGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGG... | pathogenic | 297,960 |
Is the genetic variant on chromosome 19, position 11107438, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACAT... | CCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACAT... | pathogenic | 297,976 |
A genetic variant on chromosome 19, position 11107445, affects the gene LDLR (low density lipoprotein receptor). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGA... | TGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGA... | pathogenic | 297,978 |
Evaluate the clinical significance of the mutation at chromosome 19, position 11107448 in gene LDLR (low density lipoprotein receptor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAG... | GGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAG... | pathogenic | 297,979 |
Considering the variant on chromosome 19, location 11107453, 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; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTC... | TGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTC... | pathogenic | 297,981 |
Assess the variant on chromosome 19, position 11107457, impacting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCAT... | ACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCAT... | pathogenic | 297,983 |
Variant at chromosome 19, position 11107469, gene LDLR (low density lipoprotein receptor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTT... | ACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTT... | pathogenic | 297,986 |
Mutation at chromosome 19, position 11107478, within LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | ATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTT... | ATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTT... | pathogenic | 297,990 |
Is the variant located on chromosome 19 at position 11107488, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTT... | TGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTT... | pathogenic | 297,996 |
Clinically, how would you classify the variant at chromosome 19, position 11107497, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTT... | GCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTT... | pathogenic | 298,004 |
Considering the variant on chromosome 19, location 11107504, 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; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTG... | TGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTG... | pathogenic | 298,006 |
Variant at chromosome 19, position 11107504, gene LDLR (low density lipoprotein receptor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTG... | TGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTG... | pathogenic | 298,007 |
Clinical significance of chromosome 19, position 11107506, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAG... | TAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAG... | pathogenic | 298,008 |
The genetic variant at chromosome 19, position 11107509, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATG... | GGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATG... | pathogenic | 298,010 |
Determine if the mutation at chromosome 19, position 11107512 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Dyslipidemia', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1', 'LDLR-related_disorder'] | TCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAG... | TCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAG... | pathogenic | 298,015 |
Assess the variant on chromosome 19, position 11107514, impacting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTC... | TTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTC... | pathogenic | 298,018 |
A genetic alteration at chromosome 19, position 11110660, in gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | ACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAAC... | ACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAAC... | pathogenic | 298,040 |
A genetic variant on chromosome 19, position 11110669, affects the gene LDLR (low density lipoprotein receptor). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACG... | GGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACG... | pathogenic | 298,045 |
Does the genetic variant at chromosome 19, position 11110671, impacting gene LDLR (low density lipoprotein receptor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCA... | TGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCA... | pathogenic | 298,046 |
Gene mutation in LDLR (low density lipoprotein receptor) at chromosome 19, position 11110676—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | ACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAA... | ACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAA... | pathogenic | 298,047 |
Is the chromosome 19, position 11110679 variant in LDLR (low density lipoprotein receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGC... | GAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGC... | pathogenic | 298,050 |
A genetic alteration at chromosome 19, position 11110680, in gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCA... | AAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCA... | pathogenic | 298,052 |
The mutation in gene LDLR (low density lipoprotein receptor) at chromosome 19, position 11110687—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | ATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAAT... | ATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAAT... | pathogenic | 298,058 |
Is the genetic change at chromosome 19, position 11110690, within gene LDLR (low density lipoprotein receptor) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACA... | TTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACA... | pathogenic | 298,062 |
Located at chromosome 19 position 11110718, 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'] | CAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATT... | CAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATT... | pathogenic | 298,071 |
Chromosome 19, position 11110718, gene LDLR (low density lipoprotein receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_hypercholesterolemia'] | CAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATT... | CAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATT... | pathogenic | 298,072 |
Determine whether the variant at chromosome 19, position 11110719, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Familial_type_3_hyperlipoproteinemia', 'Hypercholesterolemia,_familial,_1'] | AGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTT... | AGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTT... | pathogenic | 298,074 |
Regarding the variant at chromosome 19 and position 11110727, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACAC... | GTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACAC... | pathogenic | 298,081 |
Does the variant on chromosome 19 at location 11110730 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', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAA... | TTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAA... | pathogenic | 298,084 |
Evaluate if the mutation on chromosome 19 at position 11110740 in LDLR (low density lipoprotein receptor) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATT... | TATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATT... | pathogenic | 298,094 |
Gene mutation in LDLR (low density lipoprotein receptor) at chromosome 19, position 11110744—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCAT... | CCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCAT... | pathogenic | 298,095 |
Clinical classification of chromosome 19, position 11110750, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_hypercholesterolemia'] | TGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACT... | TGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACT... | pathogenic | 298,099 |
The genetic variant at chromosome 19, position 11110751, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTG... | GGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTG... | pathogenic | 298,100 |
Is the chromosome 19, position 11110753 variant in LDLR (low density lipoprotein receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTT... | GCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTT... | pathogenic | 298,101 |
Chromosome 19, position 11110756, gene LDLR (low density lipoprotein receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | TGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTG... | TGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTG... | pathogenic | 298,102 |
Located at chromosome 19 position 11110757, the variant affecting gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGT... | GGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGT... | pathogenic | 298,104 |
Variant chromosome 19, position 11110764, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGA... | GTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGA... | pathogenic | 298,109 |
Assess the variant on chromosome 19, position 11110781, impacting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTT... | TCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTT... | benign | 298,119 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome position 11111519 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | GCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGG... | GCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGG... | pathogenic | 298,132 |
Variant on chromosome 19, at position 11111521, affecting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTT... | ATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTT... | pathogenic | 298,135 |
Variant in gene LDLR (low density lipoprotein receptor), located at chromosome 19 position 11111522: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTC... | TGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTC... | pathogenic | 298,137 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 11111537, gene LDLR (low density lipoprotein receptor). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGC... | GGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGC... | pathogenic | 298,142 |
Determine if the mutation at chromosome 19, position 11111552 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGT... | TATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGT... | pathogenic | 298,148 |
Determine whether the variant at chromosome 19, position 11111568, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGT... | TATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGT... | pathogenic | 298,155 |
The mutation impacting LDLR (low density lipoprotein receptor) on chromosome 19 at position 11111571: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | ATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCC... | ATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCC... | pathogenic | 298,159 |
Determine whether the variant at chromosome 19, position 11111582, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCAC... | TATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCAC... | pathogenic | 298,165 |
Does the variant on chromosome 19 at location 11111601 affecting gene LDLR (low density lipoprotein receptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTAT... | TTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTAT... | pathogenic | 298,178 |
Clinical classification of chromosome 19, position 11111610, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAG... | TATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAG... | pathogenic | 298,182 |
Assess the variant on chromosome 19, position 11111629, impacting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACC... | AAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACC... | pathogenic | 298,191 |
The chromosome 19, position 11113276 genetic variant in gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAG... | CAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAG... | pathogenic | 298,209 |
Variant chromosome 19, position 11113287, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCG... | AAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCG... | pathogenic | 298,215 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome position 11113292 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAAC... | CCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAAC... | pathogenic | 298,219 |
Considering the genetic mutation at chromosome 19, position 11113295, impacting LDLR (low density lipoprotein receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTG... | TCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTG... | pathogenic | 298,220 |
Chromosome 19, position 11113296, gene LDLR (low density lipoprotein receptor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGG... | CCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGG... | pathogenic | 298,221 |
Considering the genetic mutation at chromosome 19, position 11113297, impacting LDLR (low density lipoprotein receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGA... | CAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGA... | pathogenic | 298,222 |
Considering the variant on chromosome 19, location 11113299, 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'] | AAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGG... | AAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGG... | pathogenic | 298,223 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 11113334, gene LDLR (low density lipoprotein receptor). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | AATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAG... | AATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAG... | pathogenic | 298,242 |
The mutation in gene LDLR (low density lipoprotein receptor) at chromosome 19, position 11113374—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGC... | CGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGC... | pathogenic | 298,263 |
Is chromosome 19, position 11113394, gene LDLR (low density lipoprotein receptor) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | GGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGG... | GGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGG... | pathogenic | 298,278 |
Chromosome 19, position 11113395, gene LDLR (low density lipoprotein receptor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGG... | GTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGG... | pathogenic | 298,279 |
Located at chromosome 19 position 11113425, the variant affecting gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGT... | CCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGT... | pathogenic | 298,296 |
Variant on chromosome 19, at position 11113433, affecting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGT... | ACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGT... | pathogenic | 298,300 |
Is the genetic mutation found on chromosome 19 at position 11113534, within the gene LDLR (low density lipoprotein receptor), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | CCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGG... | CCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGG... | pathogenic | 298,317 |
Benign or pathogenic: chromosome 19, position 11113536, gene LDLR (low density lipoprotein receptor) variant? Disease(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCT... | ACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCT... | pathogenic | 298,318 |
Variant on chromosome 19, at position 11113539, affecting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGC... | AAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGC... | pathogenic | 298,321 |
Is the variant located on chromosome 19 at position 11113544, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGG... | TCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGG... | pathogenic | 298,323 |
Is the variant located on chromosome 19 at position 11113547, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGA... | TTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGA... | pathogenic | 298,325 |
A genetic variant on chromosome 19, position 11113551, affects the gene LDLR (low density lipoprotein receptor). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCC... | CTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCC... | pathogenic | 298,326 |
Determine whether the variant at chromosome 19, position 11113556, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_hypercholesterolemia'] | TTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCAT... | TTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCAT... | pathogenic | 298,328 |
For chromosome 19, position 11113566, gene LDLR (low density lipoprotein receptor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGT... | CGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGT... | pathogenic | 298,331 |
Evaluate if the mutation on chromosome 19 at position 11113589 in LDLR (low density lipoprotein receptor) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGG... | CCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGG... | pathogenic | 298,336 |
Variant at chromosome position 11113590, chromosome 19, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGA... | CTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGA... | pathogenic | 298,337 |
Benign or pathogenic: chromosome 19, position 11113599, gene LDLR (low density lipoprotein receptor) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGC... | GCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGC... | pathogenic | 298,340 |
Regarding the variant found on chromosome 19 at position 11113599 in gene LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGC... | GCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGC... | pathogenic | 298,341 |
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