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Items: 6

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)
HFE-related condition
+10 more
GConflicting classifications of pathogenicity
APP
(V717I +9 more)
Single nucleotide variant
(missense variant)
Alzheimer disease type 1
+3 more
GPathogenic
APP
(E693G +9 more)
Single nucleotide variant
(missense variant)
Alzheimer disease type 1
+1 more
GPathogenic
APP
(A692G +9 more)
Single nucleotide variant
(missense variant)
Alzheimer disease type 1
+1 more
GPathogenic
APP
Inversion
(missense variant)
APP-related condition
+1 more
GPathogenic
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