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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HFE, HFE-AS1
(H63D +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
+9 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other
HFE, HFE-AS1
(S65C +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alzheimer disease type 1
+10 more
GConflicting classifications of pathogenicity
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
APP
(R323W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
APP
(R16Q)
Single nucleotide variant
(missense variant +1 more)
Cerebral amyloid angiopathy, APP-related
+2 more
GUncertain significance
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