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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APOB, LOC106560211
(A73D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
APOB, LOC106560211
(G63R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
APOB, LOC106560211
(Y56H)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+3 more
GConflicting classifications of pathogenicity
APOB, LOC106560211
(Y52H)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+5 more
GUncertain significance
APOB, LOC106560211
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+2 more
GLikely benign
APOB, LOC106560211
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
APOB, LOC106560211
(L12P)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+2 more
GUncertain significance
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