| | | Deletion (splice acceptor variant +2 more) | Homozygous familial hypercholesterolemia | |
| | | Duplication | Homozygous familial hypercholesterolemia | |
| | | Deletion | Homozygous familial hypercholesterolemia | |
| | | Deletion | Homozygous familial hypercholesterolemia | |
| | | Deletion | Homozygous familial hypercholesterolemia | |
| | | Deletion (frameshift variant) | Homozygous familial hypercholesterolemia | |
| | | Deletion (frameshift variant) | Homozygous familial hypercholesterolemia | |
| | | Single nucleotide variant (nonsense) | Homozygous familial hypercholesterolemia | |
| | | Single nucleotide variant (splice donor variant +1 more) | Homozygous familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Homozygous familial hypercholesterolemia | |
| | | Single nucleotide variant (splice acceptor variant) | Familial hypercholesterolemia +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Homozygous familial hypercholesterolemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Homozygous familial hypercholesterolemia +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Homozygous familial hypercholesterolemia +1 more | |
| | | Duplication (frameshift variant) | Homozygous familial hypercholesterolemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Homozygous familial hypercholesterolemia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Homozygous familial hypercholesterolemia +1 more | |
| | | Duplication | Homozygous familial hypercholesterolemia +1 more | |
| | | Deletion (frameshift variant) | Hypercholesterolemia, familial, 1 +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Familial hypercholesterolemia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Hypercholesterolemia, familial, 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Hypercholesterolemia, familial, 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Hypercholesterolemia, familial, 1 | |
| | | Duplication (frameshift variant) | Homozygous familial hypercholesterolemia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Homozygous familial hypercholesterolemia +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Cardiovascular phenotype +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | LDLR-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | Homozygous familial hypercholesterolemia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Homozygous familial hypercholesterolemia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Homozygous familial hypercholesterolemia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (splice donor variant) | Homozygous familial hypercholesterolemia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Homozygous familial hypercholesterolemia +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (nonsense) | Homozygous familial hypercholesterolemia +2 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Homozygous familial hypercholesterolemia +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | Homozygous familial hypercholesterolemia +4 more | |
| | | Single nucleotide variant (nonsense) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +3 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant) | Familial hypercholesterolemia +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Familial hypercholesterolemia +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Homozygous familial hypercholesterolemia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Homozygous familial hypercholesterolemia +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Homozygous familial hypercholesterolemia +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Hypercholesterolemia, familial, 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Homozygous familial hypercholesterolemia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Hypercholesterolemia, familial, 1 +2 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Homozygous familial hypercholesterolemia +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Homozygous familial hypercholesterolemia +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Familial hypercholesterolemia +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Deletion (frameshift variant +1 more) | Homozygous familial hypercholesterolemia +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Homozygous familial hypercholesterolemia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Homozygous familial hypercholesterolemia +2 more | |
| | | Deletion (frameshift variant) | Homozygous familial hypercholesterolemia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial hypercholesterolemia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +5 more | GConflicting classifications of pathogenicity |
| | | Duplication | Hypercholesterolemia, familial, 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Homozygous familial hypercholesterolemia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Familial hypercholesterolemia +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (intron variant) | Familial hypercholesterolemia +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Cardiovascular phenotype +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Microsatellite (inframe_deletion +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant +1 more) | Familial hypercholesterolemia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Homozygous familial hypercholesterolemia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Cardiovascular phenotype +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Homozygous familial hypercholesterolemia +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Homozygous familial hypercholesterolemia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Homozygous familial hypercholesterolemia +4 more | GPathogenic/Likely pathogenic |
| | | 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) | Homozygous familial hypercholesterolemia +4 more | GConflicting classifications of pathogenicity |