U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APOB
(R3527Q)
Single nucleotide variant
(missense variant)
Homozygous familial hypercholesterolemia
+10 more
GPathogenic/Likely pathogenic
APOB
(E2566K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
APOB
(P1143S)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+8 more
GConflicting classifications of pathogenicity
Format
Sort by
Choose Destination