U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LDLR
(C27W)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(R191H)
Single nucleotide variant
(missense variant +2 more)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(E140K +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(C167* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cardiovascular phenotype
+4 more
GPathogenic/Likely pathogenic
LDLR
(D178E +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GPathogenic/Likely pathogenic
LDLR
(D266E +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(R350* +3 more)
Single nucleotide variant
(nonsense)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
Single nucleotide variant
(splice donor variant)
Homozygous familial hypercholesterolemia
+5 more
GPathogenic/Likely pathogenic
LDLR, MIR6886
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(V578A +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
LDLR
(G592E +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(C681* +2 more)
Single nucleotide variant
(intron variant +1 more)
Homozygous familial hypercholesterolemia
+5 more
GPathogenic/Likely pathogenic
LDLR
(R744Q +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GLikely benign
Format
Items per page
Sort by
Choose Destination