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Links from MedGen

Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APP
(K556N +9 more)
Single nucleotide variant
(missense variant)
Cerebral amyloid angiopathy, APP-related
+1 more
GLikely pathogenic
NOS3
(G786R)
Single nucleotide variant
(missense variant)
Alzheimer disease type 1
GUncertain significance
APP
Single nucleotide variant
(intron variant)
Alzheimer disease type 1
GUncertain significance
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
+1 more
GLikely pathogenic
APP
Single nucleotide variant
(intron variant)
Alzheimer disease type 1
+2 more
GBenign/Likely benign
APP
(P484S +6 more)
Single nucleotide variant
(missense variant)
Alzheimer disease
+2 more
GConflicting classifications of pathogenicity
APP
(T588P +9 more)
Single nucleotide variant
(missense variant)
Alzheimer disease type 1
GLikely pathogenic
LOC106694315, MPO
Single nucleotide variant
(splice acceptor variant)
Myeloperoxidase deficiency
+1 more
GLikely pathogenic
HFE
Single nucleotide variant
(splice donor variant)
Microvascular complications of diabetes, susceptibility to, 7
+7 more
GPathogenic/Likely pathogenic
HFE
Single nucleotide variant
(3 prime UTR variant)
Variegate porphyria
+5 more
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
+5 more
GUncertain significance
APP
(R16Q)
Single nucleotide variant
(missense variant +1 more)
Cerebral amyloid angiopathy, APP-related
+2 more
GUncertain significance
APP
(S290Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral amyloid angiopathy, APP-related
+2 more
GUncertain significance
MPO
Single nucleotide variant
(synonymous variant)
Alzheimer disease type 1
+2 more
GBenign/Likely benign
NOS3
Single nucleotide variant
(synonymous variant)
Alzheimer disease type 1
+4 more
GBenign/Likely benign
APP
Single nucleotide variant
(synonymous variant)
Cerebral amyloid angiopathy, APP-related
+3 more
GLikely benign
HFE
(R226W +8 more)
Single nucleotide variant
(missense variant +1 more)
Alzheimer disease type 1
+5 more
GUncertain significance
NOS3
(D298E)
Single nucleotide variant
(missense variant +1 more)
Metabolic syndrome, susceptibility to
Grisk factor
MPO
(E202*)
Single nucleotide variant
(nonsense)
Myeloperoxidase deficiency
+2 more
GLikely pathogenic
HFE
(V256I +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial porphyria cutanea tarda
+6 more
GUncertain significance
HFE
(L183fs +2 more)
Deletion
(frameshift variant +1 more)
Hereditary hemochromatosis
+6 more
GPathogenic/Likely pathogenic
APP
Single nucleotide variant
(intron variant +1 more)
Cerebral amyloid angiopathy, APP-related
+2 more
GUncertain significance
APP
(V225A +3 more)
Single nucleotide variant
(missense variant)
Alzheimer disease
+2 more
GUncertain significance
APP
(S614G +6 more)
Single nucleotide variant
(missense variant)
Cerebral amyloid angiopathy, APP-related
+3 more
GBenign/Likely benign
APP
Single nucleotide variant
(synonymous variant)
Cerebral amyloid angiopathy, APP-related
+3 more
GBenign/Likely benign
HFE
(E168Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary hemochromatosis
+7 more
GUncertain significance
HFE, HFE-AS1
(R6S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+7 more
GUncertain significance
APP
(V717L +9 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
APP
(T714A +9 more)
Single nucleotide variant
(missense variant)
Alzheimer disease type 1
+1 more
GPathogenic
APP
(T714I +9 more)
Single nucleotide variant
(missense variant)
Alzheimer disease type 1
GPathogenic
APP
(E693G +9 more)
Single nucleotide variant
(missense variant)
Alzheimer disease type 1
+1 more
GPathogenic
APP
(V715M +9 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
APP
(I716V +9 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
APP
(E665D +9 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
APP
(A713T +9 more)
Single nucleotide variant
(missense variant)
Primary degenerative dementia of the Alzheimer type, presenile onset
+3 more
GConflicting classifications of pathogenicity
APP
Inversion
(missense variant)
APP-related condition
+1 more
GPathogenic
APP
(A692G +9 more)
Single nucleotide variant
(missense variant)
Alzheimer disease type 1
+1 more
GPathogenic
APP
(V717G +9 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
APP
(V717F +9 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
APP
(V717I +9 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
NOS3
(D298E)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign
MPO
Single nucleotide variant
(splice acceptor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
LOC106694316, MPO
(R569W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
HFE, HFE-AS1
(S65C +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary hemochromatosis
+9 more
GConflicting classifications of pathogenicity
HFE
(C282Y +8 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary hemochromatosis
+20 more
GPathogenic/Pathogenic, low penetrance; other; risk factor
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