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Items: 1 to 100 of 1277

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARTN, ATP6V0B
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
LOC129388541, LOC129388542
+570 more
Copy number gain
See cases
GPathogenic
ACOT11, AK4
+421 more
Copy number gain
See cases
GLikely pathogenic
ACOT11, ALG6
+280 more
Copy number loss
See cases
GPathogenic
ACOT11, BSND
+205 more
Copy number loss
See cases
GPathogenic
PCSK9
Single nucleotide variant
Familial hypercholesterolemia
Gassociation
PCSK9
Single nucleotide variant
Hypercholesterolemia, familial, 1
GBenign
PCSK9
Single nucleotide variant
Familial hypobetalipoproteinemia
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
Hypercholesterolemia, autosomal dominant, 3
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
Hypobetalipoproteinemia
+4 more
GUncertain significance
PCSK9
Single nucleotide variant
Familial hypercholesterolemia
GUncertain significance
PCSK9
Single nucleotide variant
(5 prime UTR variant)
Hypobetalipoproteinemia
+2 more
GBenign/Likely benign
PCSK9
Single nucleotide variant
(5 prime UTR variant)
Hypobetalipoproteinemia
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
(5 prime UTR variant)
Hypercholesterolemia, autosomal dominant, 3
+2 more
GConflicting classifications of pathogenicity
PCSK9
Single nucleotide variant
(5 prime UTR variant)
Hypercholesterolemia, familial, 1
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
(5 prime UTR variant)
Hypercholesterolemia, familial, 1
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
(5 prime UTR variant)
Hypercholesterolemia, familial, 1
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
(5 prime UTR variant)
Familial hypobetalipoproteinemia
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
(5 prime UTR variant)
Familial hypobetalipoproteinemia
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
(5 prime UTR variant)
Hypercholesterolemia, familial, 1
GBenign
PCSK9
Single nucleotide variant
(5 prime UTR variant)
Hypobetalipoproteinemia
+1 more
GConflicting classifications of pathogenicity
PCSK9
Single nucleotide variant
(5 prime UTR variant)
Hypercholesterolemia, familial, 1
GUncertain significance
PCSK9
Single nucleotide variant
(5 prime UTR variant)
Hypercholesterolemia, autosomal dominant, 3
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
(5 prime UTR variant)
Hypercholesterolemia, familial, 1
GUncertain significance
PCSK9
Single nucleotide variant
(5 prime UTR variant)
Hypobetalipoproteinemia
+2 more
GBenign
PCSK9
Single nucleotide variant
(5 prime UTR variant)
Hypobetalipoproteinemia
+1 more
GBenign/Likely benign
PCSK9
Single nucleotide variant
(5 prime UTR variant +1 more)
Hypercholesterolemia, autosomal dominant, 3
GUncertain significance
PCSK9
Single nucleotide variant
(5 prime UTR variant)
Familial hypercholesterolemia
GLikely benign
PCSK9
Deletion
(5 prime UTR variant +1 more)
Hypercholesterolemia, autosomal dominant, 3
GUncertain significance
PCSK9
Single nucleotide variant
(5 prime UTR variant)
PCSK9-related disorder
+3 more
GConflicting classifications of pathogenicity
PCSK9
Single nucleotide variant
(5 prime UTR variant +1 more)
Hypercholesterolemia, autosomal dominant, 3
GUncertain significance
PCSK9
Single nucleotide variant
(5 prime UTR variant +1 more)
Hypercholesterolemia, autosomal dominant, 3
GUncertain significance
PCSK9
Single nucleotide variant
(5 prime UTR variant +1 more)
Cardiovascular phenotype
GUncertain significance
PCSK9
(M1R)
Single nucleotide variant
(missense variant +1 more)
Familial hypercholesterolemia
GUncertain significance
PCSK9
(G2S)
Single nucleotide variant
(missense variant +2 more)
Hypercholesterolemia, autosomal dominant, 3
GUncertain significance
PCSK9
(G2D)
Single nucleotide variant
(missense variant +2 more)
Hypercholesterolemia, autosomal dominant, 3
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
PCSK9
(T3I)
Single nucleotide variant
(missense variant +2 more)
Hypercholesterolemia, autosomal dominant, 3
GUncertain significance
PCSK9
(T3N)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, 3
GUncertain significance
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
Single nucleotide variant
(synonymous variant +2 more)
Hypercholesterolemia, autosomal dominant, 3
GLikely benign
PCSK9
(S6F)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, 3
GLikely benign
PCSK9
(R8W)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+1 more
GUncertain significance
PCSK9
(R8Q)
Single nucleotide variant
(missense variant +2 more)
Hypercholesterolemia, autosomal dominant, 3
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
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
Insertion
(inframe_insertion +2 more)
Hypercholesterolemia, autosomal dominant, 3
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
(L15fs)
Insertion
(frameshift variant)
Hypercholesterolemia, familial, 1
GPathogenic
PCSK9
Microsatellite
(inframe_insertion)
Cardiovascular phenotype
+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)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
PCSK9
Insertion
(inframe_insertion)
not provided
GLikely benign
PCSK9
Single nucleotide variant
(non-coding transcript variant +2 more)
Cardiovascular phenotype
GLikely benign
PCSK9
(L18R)
Single nucleotide variant
(missense variant +2 more)
Hypercholesterolemia, autosomal dominant, 3
GUncertain significance
PCSK9
Duplication
(inframe_insertion +2 more)
Hypercholesterolemia, autosomal dominant, 3
+1 more
GLikely benign
PCSK9
Single nucleotide variant
(synonymous variant +2 more)
Hypercholesterolemia, autosomal dominant, 3
+1 more
GLikely benign
PCSK9
Insertion
(inframe_indel +1 more)
Hypercholesterolemia, autosomal dominant, 3
GLikely benign
PCSK9
Insertion
(inframe_insertion +2 more)
Familial hypercholesterolemia
GUncertain significance
PCSK9
(L22P)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+1 more
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
PCSK9
(L23fs)
Deletion
(frameshift variant +2 more)
Hypercholesterolemia, autosomal dominant, 3
+1 more
GLikely benign
PCSK9
(G24C)
Single nucleotide variant
(missense variant +2 more)
Hypercholesterolemia, autosomal dominant, 3
GUncertain significance
PCSK9
(G24S)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, 3
+2 more
GUncertain significance
PCSK9
(A26fs)
Deletion
(frameshift variant +2 more)
Hypercholesterolemia, autosomal dominant, 3
GLikely benign
PCSK9
Single nucleotide variant
(synonymous variant +2 more)
Hypercholesterolemia, autosomal dominant, 3
GLikely benign
PCSK9
(A26T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
PCSK9
(A26V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant +2 more)
Hypercholesterolemia, autosomal dominant, 3
+1 more
GLikely benign
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
(A28T)
Single nucleotide variant
(missense variant +2 more)
Hypercholesterolemia, autosomal dominant, 3
GUncertain significance
PCSK9
(R29fs)
Deletion
(frameshift variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PCSK9
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
PCSK9
(R29C)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
PCSK9
(R29G)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, 3
+1 more
GUncertain significance
PCSK9
(R29H)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, 3
+1 more
GUncertain significance
PCSK9
(Q31fs)
Duplication
(frameshift variant)
Hypercholesterolemia, autosomal dominant, 3
GLikely benign
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)
Hypercholesterolemia, autosomal dominant, 3
+4 more
GPathogenic/Likely pathogenic
PCSK9
(E32D)
Single nucleotide variant
(missense variant +2 more)
Hypercholesterolemia, autosomal dominant, 3
GUncertain significance
PCSK9
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, 3
GLikely benign
PCSK9
(D33N)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+1 more
GUncertain significance
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