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Items: 92

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APOB, APOB3'MAR
Single nucleotide variant
(3 prime UTR variant)
Hypercholesterolemia, autosomal dominant, type B
+3 more
GConflicting classifications of pathogenicity
APOB, APOB3'MAR
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 1
+6 more
GConflicting classifications of pathogenicity
APOB, APOB3'MAR
(T4560A)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
APOB, APOB3'MAR
(E4558K)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+2 more
GUncertain significance
APOB3'MAR, APOB
(G4557A)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+3 more
GConflicting classifications of pathogenicity
APOB, APOB3'MAR
(Y4551H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
APOB, APOB3'MAR
(P4550T)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
APOB, APOB3'MAR
(M4548V)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
APOB, APOB3'MAR
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+2 more
GLikely benign
APOB, APOB3'MAR
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
APOB, APOB3'MAR
(Y4534N)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
APOB, APOB3'MAR
(H4529R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
APOB
(A4481T)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 1
+3 more
GBenign/Likely benign
APOB
(S4338N)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+6 more
GBenign
APOB
(I4314V)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+6 more
GConflicting classifications of pathogenicity
APOB
(R4270T)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+6 more
GBenign
APOB
(V4265A)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+5 more
GConflicting classifications of pathogenicity
APOB
(E4181K)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+5 more
GBenign/Likely benign
APOB
(V4128M)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+6 more
GConflicting classifications of pathogenicity
APOB
Deletion
(intron variant)
not provided
+3 more
GBenign
APOB
(T3826M)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
APOB
(S3801T)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
APOB
(R3638Q)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+5 more
GConflicting classifications of pathogenicity
APOB
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
+2 more
GLikely benign
APOB
(R3527Q)
Single nucleotide variant
(missense variant)
APOB-related disorder
+9 more
GPathogenic/Likely pathogenic
APOB
(R3527W)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+7 more
GPathogenic/Likely pathogenic
APOB
(Q3432E)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+6 more
GConflicting classifications of pathogenicity
APOB
(S3279G)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+6 more
GConflicting classifications of pathogenicity
APOB
Single nucleotide variant
(synonymous variant)
APOB-related disorder
+4 more
GBenign/Likely benign
APOB
(R2907H)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+4 more
GConflicting classifications of pathogenicity
APOB
(N2785H)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+5 more
GConflicting classifications of pathogenicity
APOB
(P2739L)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+5 more
GBenign/Likely benign
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 1
+6 more
GConflicting classifications of pathogenicity
APOB
(V2539I)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+6 more
GConflicting classifications of pathogenicity
APOB
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GConflicting classifications of pathogenicity
APOB
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign
APOB
(S2429T)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+6 more
GConflicting classifications of pathogenicity
APOB
(K2428R)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+2 more
GConflicting classifications of pathogenicity
APOB
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
APOB
(D2213del)
Microsatellite
(inframe_deletion)
not provided
+7 more
GConflicting classifications of pathogenicity
APOB
(H1923R)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+5 more
GBenign/Likely benign
APOB
(N1914S)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+6 more
GBenign/Likely benign
APOB
(R1689H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 1
+5 more
GConflicting classifications of pathogenicity
APOB
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GBenign/Likely benign
APOB
(L1212M)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
APOB
(R1164K)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+4 more
GConflicting classifications of pathogenicity
APOB
(P1143S)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
APOB
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
+5 more
GConflicting classifications of pathogenicity
APOB
(R1128H)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+8 more
GConflicting classifications of pathogenicity
APOB
(D1113H)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+6 more
GConflicting classifications of pathogenicity
APOB
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
APOB
(T741N)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+6 more
GConflicting classifications of pathogenicity
APOB
(V730I)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
APOB
Single nucleotide variant
(intron variant)
not specified
+7 more
GConflicting classifications of pathogenicity
APOB
(A618V)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
APOB
(R532W)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
APOB
Single nucleotide variant
(intron variant)
Familial hypobetalipoproteinemia 1
+5 more
GConflicting classifications of pathogenicity
APOB
(A251T)
Single nucleotide variant
(missense variant)
not provided
+6 more
GBenign/Likely benign
APOB
(E202D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
APOB
(T194M)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+5 more
GBenign/Likely benign
APOB
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign/Likely benign
APOB
(P145S)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
APOB
(I135V)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+3 more
GConflicting classifications of pathogenicity
APOB
(T98I)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+5 more
GBenign/Likely benign
APOB
(Q96H)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+4 more
GConflicting classifications of pathogenicity
APOB, LOC106560211
Single nucleotide variant
(intron variant)
Hypercholesterolemia, autosomal dominant, type B
+2 more
GBenign
APOB, LOC106560211
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
APOB, LOC106560211
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
APOB, LOC106560211
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
APOB, LOC106560211
(A73D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
APOB, LOC106560211
(S72N)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
APOB, LOC106560211
(A68T)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
APOB, LOC106560211
(G63R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
APOB, LOC106560211
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+4 more
GBenign/Likely benign
APOB, LOC106560211
(Y56H)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+3 more
GConflicting classifications of pathogenicity
APOB, LOC106560211
(T53S)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
APOB, LOC106560211
(Y52H)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+5 more
GUncertain significance
APOB, LOC106560211
(K51R)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+2 more
GConflicting classifications of pathogenicity
APOB, LOC106560211
(H48L)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+2 more
GUncertain significance
APOB, LOC106560211
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
+3 more
GLikely benign
APOB, LOC106560211
(R45G)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+2 more
GConflicting classifications of pathogenicity
APOB, LOC106560211
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
+3 more
GConflicting classifications of pathogenicity
APOB, LOC106560211
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+4 more
GBenign
APOB, LOC106560211
(A43V)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
APOB, LOC106560211
(L37Q)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
APOB, LOC106560211
(S36T)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+2 more
GLikely benign
APOB, LOC106560211
(E29K)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+2 more
GUncertain significance
LOC106560211, APOB
Single nucleotide variant
(intron variant)
Familial hypobetalipoproteinemia 1
+2 more
GConflicting classifications of pathogenicity
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