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Items: 1 to 100 of 643

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCSK9
Single nucleotide variant
Hypercholesterolemia, familial, 1
GBenign
PCSK9
Single nucleotide variant
(5 prime UTR variant)
Familial hypercholesterolemia
GLikely benign
PCSK9
Single nucleotide variant
(5 prime UTR variant)
PCSK9-related disorder
+3 more
GConflicting classifications of pathogenicity
PCSK9
(M1R)
Single nucleotide variant
(missense variant +1 more)
Familial hypercholesterolemia
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
+1 more
GLikely benign
PCSK9
(V4L)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
PCSK9
(V4I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
PCSK9
(S6F)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
PCSK9
(R8W)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
+1 more
GLikely benign
PCSK9
(P12T)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+2 more
GUncertain significance
PCSK9
(P12L)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+2 more
GConflicting classifications of pathogenicity
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
+1 more
GLikely benign
PCSK9
(P14S)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, 3
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant +2 more)
Familial hypercholesterolemia
+1 more
GLikely benign
PCSK9
(L23del)
Deletion
(inframe_deletion)
Familial hypercholesterolemia
GLikely benign
PCSK9
Deletion
(inframe_deletion)
Familial hypercholesterolemia
+1 more
GConflicting classifications of pathogenicity
PCSK9
Microsatellite
(inframe_insertion)
not provided
+2 more
GUncertain significance
PCSK9
Microsatellite
(inframe_insertion)
not provided
+4 more
GConflicting classifications of pathogenicity
PCSK9
Microsatellite
(inframe_insertion)
Familial hypercholesterolemia
+5 more
GConflicting classifications of pathogenicity
PCSK9
Microsatellite
(inframe_insertion)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
PCSK9
Microsatellite
(inframe_deletion)
Familial hypercholesterolemia
GUncertain significance
PCSK9
Insertion
(inframe_insertion)
Familial hypercholesterolemia
GUncertain significance
PCSK9
Microsatellite
(inframe_deletion)
Hypercholesterolemia, autosomal dominant, 3
+3 more
GConflicting classifications of pathogenicity
PCSK9
(L23del)
Microsatellite
(inframe_deletion)
PCSK9-related disorder
+5 more
GConflicting classifications of pathogenicity
PCSK9
Duplication
(inframe_insertion +2 more)
Hypercholesterolemia, autosomal dominant, 3
+1 more
GLikely benign
PCSK9
(L22P)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
+3 more
GLikely benign
PCSK9
(L23fs)
Deletion
(frameshift variant +2 more)
Hypercholesterolemia, autosomal dominant, 3
+1 more
GLikely benign
PCSK9
(G24S)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, 3
+2 more
GUncertain significance
PCSK9
(A26V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
PCSK9
(G27D)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+1 more
GUncertain significance
PCSK9
(G27A)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
+1 more
GLikely benign
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
PCSK9
(R29C)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
PCSK9
(A30E)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
PCSK9
Microsatellite
(inframe_insertion)
Hypercholesterolemia, autosomal dominant, 3
+2 more
GConflicting classifications of pathogenicity
PCSK9
(E32K)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
PCSK9
(D33N)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+1 more
GUncertain significance
PCSK9
(E34K)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+4 more
GUncertain significance
PCSK9
(D35Y)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
+2 more
GLikely benign
PCSK9
(G36S)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+1 more
GUncertain significance
PCSK9
(E39K)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, 3
+1 more
GUncertain significance
PCSK9
(E40K)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+2 more
GConflicting classifications of pathogenicity
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
+2 more
GLikely benign
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
PCSK9
(R46C)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
PCSK9
(R46L)
Single nucleotide variant
(missense variant)
Hypobetalipoproteinemia
+6 more
GBenign/Likely benign
PCSK9
Single nucleotide variant
(synonymous variant)
Hypobetalipoproteinemia
+6 more
GConflicting classifications of pathogenicity
PCSK9
(E49del)
Microsatellite
(inframe_deletion +2 more)
Familial hypercholesterolemia
GUncertain significance
PCSK9
(E48*)
Single nucleotide variant
(nonsense)
Familial hypercholesterolemia
GLikely benign
PCSK9
(E48K)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+2 more
GUncertain significance
PCSK9
(L52P)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+2 more
GUncertain significance
PCSK9
(A53V)
Indel
(missense variant)
Familial hypercholesterolemia
GLikely benign
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
PCSK9
(A53G)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, 3
+4 more
GUncertain significance
PCSK9
(A53V)
Single nucleotide variant
(missense variant)
not provided
+6 more
GBenign/Likely benign
PCSK9
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, 3
+1 more
GLikely benign
PCSK9
(A55V)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
PCSK9
(P56S)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+2 more
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
+1 more
GLikely benign
PCSK9
(E57K)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PCSK9
(G59A)
Single nucleotide variant
(missense variant +2 more)
Familial hypercholesterolemia
GUncertain significance
PCSK9
(T60A)
Single nucleotide variant
(missense variant +2 more)
Familial hypercholesterolemia
GLikely benign
PCSK9
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
PCSK9
(T63I)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant +2 more)
Familial hypercholesterolemia
GLikely benign
PCSK9
(R66C)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, 3
+2 more
GUncertain significance
PCSK9
(R66Q)
Indel
(missense variant)
Familial hypercholesterolemia
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
+2 more
GLikely benign
PCSK9
(C67R)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GUncertain significance
PCSK9
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GUncertain significance
PCSK9
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
PCSK9
Single nucleotide variant
(intron variant)
Hypobetalipoproteinemia
+5 more
GBenign
PCSK9
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 1
+1 more
GLikely benign
PCSK9
Single nucleotide variant
(intron variant)
Hypercholesterolemia, autosomal dominant, 3
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
+1 more
GLikely benign
PCSK9
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
(intron variant)
Hypercholesterolemia, autosomal dominant, 3
+1 more
GUncertain significance
PCSK9
(P71L)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+4 more
GConflicting classifications of pathogenicity
PCSK9
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
PCSK9
(R73S)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
PCSK9
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
+2 more
GLikely benign
PCSK9
(V81E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCSK9
(K83E)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
PCSK9
(E85K)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
PCSK9
(H87Q)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
PCSK9
(S89W)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, 3
+3 more
GConflicting classifications of pathogenicity
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