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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APOB
(R3527Q)
Single nucleotide variant
(missense variant)
APOB-related disorder
+9 more
GPathogenic/Likely pathogenic
LDLR
(C27W)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(W44*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+4 more
GPathogenic/Likely pathogenic
LDLR
(C75Y)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
+1 more
GLikely pathogenic
LDLR
(R81C)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GLikely pathogenic
LDLR
Deletion
(splice donor variant +1 more)
Familial hypercholesterolemia
+3 more
GPathogenic/Likely pathogenic
LDLR
(C155G +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial hypercholesterolemia
+3 more
GPathogenic/Likely pathogenic
LDLR
(E208K +1 more)
Single nucleotide variant
(missense variant +1 more)
LDLR-related disorder
+5 more
GPathogenic/Likely pathogenic
LDLR
(R237C +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(G343S +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(R350* +3 more)
Single nucleotide variant
(nonsense)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
Single nucleotide variant
(splice acceptor variant)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
Single nucleotide variant
(splice acceptor variant)
Hypercholesterolemia, familial, 1
+1 more
GPathogenic/Likely pathogenic
LDLR
(V436A +3 more)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+3 more
GConflicting classifications of pathogenicity
LDLR
(D482N +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+4 more
GPathogenic/Likely pathogenic
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
+4 more
GConflicting classifications of pathogenicity
LDLR
(I560F +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
LDLR
(N564H +3 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
LDLR
(W577S +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
LDLR
(G592E +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(P608R +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GLikely pathogenic
LDLR
Deletion
(inframe_deletion)
Hypercholesterolemia, familial, 1
+4 more
GConflicting classifications of pathogenicity
LDLR
(S849* +3 more)
Single nucleotide variant
(nonsense)
Hypercholesterolemia, familial, 1
GLikely pathogenic
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