| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (intron variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Deletion (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Deletion (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Deletion (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (intron variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion (non-coding transcript variant +2 more) | not provided | |
| | | Deletion | not provided | |
| | | Indel (non-coding transcript variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Duplication | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Deletion | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Deletion | Hypercholesterolemia, familial, 1 | |
| | | Deletion | Hypercholesterolemia, familial, 1 | |
| | | Deletion | Hypercholesterolemia, familial, 1 | |
| | | Deletion | Hypercholesterolemia, familial, 1 | |
| | | Deletion | Hypercholesterolemia, familial, 1 | |
| | | Deletion | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Duplication (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Deletion (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Deletion (frameshift variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Deletion | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Hypercholesterolemia, familial, 1 | |
| | | Deletion | Hypercholesterolemia, familial, 1 | |
| | | Deletion | Hypercholesterolemia, familial, 1 | |
| | | Deletion | Hypercholesterolemia, familial, 1 | |