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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA
(R545H +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+24 more
GConflicting classifications of pathogenicity
LDLR, LDLR-AS1
(G20R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GBenign
LDLR
(A50S)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+6 more
GConflicting classifications of pathogenicity
LDLR
(R191H)
Single nucleotide variant
(missense variant +2 more)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(D266E +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(E408K +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GLikely pathogenic
LDLR
(T413M +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GLikely pathogenic
LDLR
(D482N +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GPathogenic/Likely pathogenic
LDLR
(D492N +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LDLR
(G592E +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(R595W +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(C681* +2 more)
Single nucleotide variant
(nonsense +1 more)
Familial hypercholesterolemia
+5 more
GPathogenic/Likely pathogenic
APOE
(G145D +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 2
+7 more
GUncertain significance
APOE
(R176C +1 more)
Single nucleotide variant
(missense variant)
atorvastatin response - Efficacy
Gdrug response
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