| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia | |
| | | Indel (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 +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hypercholesterolemia, familial, 1 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia +1 more | |
| | | Deletion (non-coding transcript variant +1 more) | Hypercholesterolemia, familial, 1 +1 more | |
| | | 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 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hypercholesterolemia, familial, 1 | |