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Links from MedGen

Items: 1 to 100 of 213

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSEN2
(P413S +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
Single nucleotide variant
(intron variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(I288M)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(A281D)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(Y346fs +1 more)
Deletion
(frameshift variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(R284G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PSEN2
(L143F)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(V197M)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(D55E)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
+1 more
GLikely benign
PSEN2
(Y294D)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(I146F)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
Single nucleotide variant
(intron variant)
Alzheimer disease 4
GLikely benign
PSEN2
(V208I)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
PSEN2-related disorder
+1 more
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
(P435L +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(G189A)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(intron variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(intron variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(G117R)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
(C65Y)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
Single nucleotide variant
(intron variant)
Alzheimer disease 4
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
(P336S +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(L238P)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
(N116K)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(intron variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(intron variant)
Alzheimer disease 4
GLikely benign
PSEN2
(R434W +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
(H87L)
Indel
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
Single nucleotide variant
(intron variant)
Alzheimer disease 4
GLikely benign
PSEN2
Deletion
(intron variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
(R110C)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
PSEN2-related disorder
+1 more
GLikely benign
PSEN2
Single nucleotide variant
(intron variant)
Alzheimer disease 4
GLikely benign
PSEN2
(I293L)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
+1 more
GLikely benign
PSEN2
(M298T)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
Single nucleotide variant
(intron variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
(A414T +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(L180P)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(T301M)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
+2 more
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(intron variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(intron variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(intron variant)
Alzheimer disease 4
+1 more
GBenign/Likely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(intron variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(P224L)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(G348E +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(I100V)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(T386I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PSEN2
(R29C)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
+2 more
GUncertain significance
PSEN2
(Y319C)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(P28T)
Indel
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(V93M)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(W47G)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(H444Y +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
APOE
(E230K +1 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
PSEN2
Single nucleotide variant
(intron variant)
Alzheimer disease 4
+2 more
GBenign
PSEN2
Single nucleotide variant
(intron variant)
Alzheimer disease 4
+2 more
GBenign
PSEN2
Single nucleotide variant
(intron variant)
Alzheimer disease 4
+2 more
GBenign
PSEN2
Single nucleotide variant
(intron variant)
Alzheimer disease 4
+2 more
GBenign
PSEN2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1V
+2 more
GBenign
APOE
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(intron variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
+1 more
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
GLikely benign
PSEN2
(H169N)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
+1 more
GBenign/Likely benign
PSEN2
(H87R)
Inversion
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(V68A)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
+1 more
GUncertain significance
PSEN2
(V214L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
PSEN2
(R134H)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(K161R)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
(S310P)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
GUncertain significance
PSEN2
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1V
+1 more
GUncertain significance
PSEN2
(R434Q +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1V
+1 more
GUncertain significance
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