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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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)
not provided
+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)
Cardiovascular phenotype
+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)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
APOB, LOC106560211
Single nucleotide variant
(synonymous variant)
not provided
+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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