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Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCSK9
(E32K)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, 3
+4 more
GPathogenic/Likely pathogenic
PCSK9
(R237W +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
PCSK9
(N425S +5 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, 3
+6 more
GConflicting classifications of pathogenicity
PCSK9
(P467A +6 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
PCSK9
(T653M +8 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+4 more
GUncertain significance
APOB
(Q4494del)
Microsatellite
(inframe_deletion)
not specified
+5 more
GConflicting classifications of pathogenicity
APOB
(Y3560C)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+4 more
GConflicting classifications of pathogenicity
APOB
(R3527W)
Single nucleotide variant
(missense variant)
APOB-related disorder
+8 more
GPathogenic/Likely pathogenic
APOB
(S3279G)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
APOB
(P2739L)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+5 more
GBenign/Likely benign
APOB
(Q1551*)
Single nucleotide variant
(nonsense)
Hypercholesterolemia, autosomal dominant, type B
+2 more
GPathogenic
APOB
(R1164T)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+3 more
GConflicting classifications of pathogenicity
APOB
(R1128H)
Single nucleotide variant
(missense variant)
APOB-related condition
+7 more
GConflicting classifications of pathogenicity
APOB
(A618V)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+4 more
GBenign/Likely benign
APOB
(T170fs)
Deletion
(frameshift variant)
Hypercholesterolemia, familial, 1
GLikely pathogenic
LDLR
(D36Y)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(G98S)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LDLR
Single nucleotide variant
(synonymous variant +2 more)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
LDLR
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
LDLR
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 1
+2 more
GConflicting classifications of pathogenicity
LDLR
(G269D +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GLikely benign
LDLR
(C276* +3 more)
Single nucleotide variant
(nonsense)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(E277K +3 more)
Single nucleotide variant
(missense variant)
LDLR-related condition
+5 more
GConflicting classifications of pathogenicity
LDLR
(E288K +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(K143fs +3 more)
Deletion
(frameshift variant)
Familial hypercholesterolemia
+1 more
GPathogenic
LDLR
(G314R +3 more)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+3 more
GUncertain significance
LDLR
(G324S +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GBenign
LDLR, MIR6886
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GLikely pathogenic
LDLR
(A501V +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
LDLR
(W368C +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+1 more
GConflicting classifications of pathogenicity
LDLR
(L568V +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GPathogenic/Likely pathogenic
LDLR
(H583Y +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
LDLR
(D601H +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
LDLR
(A606S +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(E626K +3 more)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+3 more
GConflicting classifications of pathogenicity
LDLR
(P661L +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GConflicting classifications of pathogenicity
LDLR
(S691L +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
+1 more
GConflicting classifications of pathogenicity
LDLR
(G701S +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(T761M +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LDLR
(A771T +3 more)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+1 more
GConflicting classifications of pathogenicity
LDLR
(I792T +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(R814Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LDLR
(S854G +4 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+1 more
GUncertain significance
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