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Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APOE
(D19N)
Single nucleotide variant
(missense variant +1 more)
Alzheimer disease 2
GUncertain significance
APOE
(E230K +1 more)
Single nucleotide variant
(missense variant)
Lipoprotein glomerulopathy
+7 more
GUncertain significance
APOE
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GLikely benign
APOE
Single nucleotide variant
(synonymous variant)
Alzheimer disease 3
+8 more
GBenign/Likely benign
APOE
Single nucleotide variant
(synonymous variant)
Lipoprotein glomerulopathy
+8 more
GLikely benign
not specified
GUncertain significance
APOE
(G145D +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+7 more
GUncertain significance
APOE
(R269G +1 more)
Single nucleotide variant
(missense variant)
Familial type 3 hyperlipoproteinemia
+8 more
GUncertain significance
APOE
(C130R +3 more)
Single nucleotide variant
(missense variant)
APOE5 VARIANT
Gassociation
APOE
(C130R +3 more)
Single nucleotide variant
(missense variant)
APOE4(-)-FREIBURG
+1 more
GPathogenic/Likely pathogenic
APOE
(C130R +3 more)
Single nucleotide variant
(missense variant)
Familial type 3 hyperlipoproteinemia
GPathogenic
APOE
(R176C +3 more)
Single nucleotide variant
(missense variant)
Hyperlipoproteinemia due to APOE1
GPathogenic
APOE
(C130R +3 more)
Single nucleotide variant
(missense variant)
Familial type 3 hyperlipoproteinemia
Gnot provided
APOE
(R43C +1 more)
Single nucleotide variant
(missense variant)
Lipoprotein glomerulopathy
+6 more
GPathogenic/Likely pathogenic
APOE
(C130R +1 more)
Single nucleotide variant
(missense variant)
Primary degenerative dementia of the Alzheimer type, presenile onset
+4 more
GConflicting classifications of pathogenicity; other; risk factor
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