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Links from MedGen

Items: 78

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSEN2
(G84R)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1V
GUncertain significance
PSEN2
(T301M)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
+2 more
GUncertain significance
PSEN2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1V
+1 more
GBenign/Likely benign
PSEN2
(R29C)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
+2 more
GUncertain significance
PSEN2
(Y195C)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1V
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
PSEN2
(V68A)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
+1 more
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)
Alzheimer disease 4
+1 more
GUncertain significance
PSEN2
(T420M +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
+1 more
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1V
+1 more
GUncertain significance
PSEN2
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1V
+1 more
GUncertain significance
PSEN2
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1V
+1 more
GUncertain significance
PSEN2
(V392M +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
+2 more
GUncertain significance
PSEN2
Single nucleotide variant
(5 prime UTR variant)
Alzheimer disease 4
+1 more
GUncertain significance
PSEN2
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease 4
+1 more
GUncertain significance
PSEN2
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease 4
+1 more
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1V
+1 more
GUncertain significance
PSEN2
(F243L)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1V
+1 more
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1V
+1 more
GConflicting classifications of pathogenicity
PSEN2
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1V
+1 more
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1V
+1 more
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
+1 more
GLikely benign
PSEN2
(G34S)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
+1 more
GConflicting classifications of pathogenicity
PSEN2
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1V
+1 more
GConflicting classifications of pathogenicity
PSEN2
(A252T)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
+1 more
GConflicting classifications of pathogenicity
PSEN2
(E54D)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
+1 more
GLikely benign
PSEN2
(M174V)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
+2 more
GBenign/Likely benign
PSEN2
(A258T)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
+2 more
GUncertain significance
PSEN2
(R62C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
+3 more
GBenign/Likely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1V
+1 more
GBenign/Likely benign
PSEN2
(L238F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PSEN2
(V139M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PSEN2
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1V
+1 more
GBenign/Likely benign
PSEN2
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1V
+1 more
GBenign/Likely benign
PSEN2
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1V
+1 more
GUncertain significance
PSEN2
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PSEN2
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
PSEN2
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1V
+1 more
GUncertain significance
PSEN2
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1V
+1 more
GConflicting classifications of pathogenicity
PSEN2
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1V
+1 more
GUncertain significance
PSEN2
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1V
+1 more
GUncertain significance
PSEN2
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1V
+1 more
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1V
+1 more
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
+2 more
GConflicting classifications of pathogenicity
PSEN2
(G313S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1V
+2 more
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
PSEN2
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1V
+2 more
GConflicting classifications of pathogenicity
PSEN2
(N137S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1V
+1 more
GUncertain significance
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
+3 more
GConflicting classifications of pathogenicity
PSEN2
Single nucleotide variant
(synonymous variant)
Alzheimer disease 4
+1 more
GUncertain significance
PSEN2
(V13A)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1V
+2 more
GUncertain significance
PSEN2
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1V
+1 more
GBenign
PSEN2
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1V
+1 more
GUncertain significance
PSEN2
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1V
+1 more
GUncertain significance
PSEN2
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1V
+1 more
GBenign
PSEN2
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1V
+1 more
GUncertain significance
PSEN2
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1V
+1 more
GLikely benign
LOC129932678, PSEN2
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1V
+1 more
GBenign
PSEN2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
PSEN2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
PSEN2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
PSEN2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
PSEN2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
PSEN2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
PSEN2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
PSEN2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
PSEN2
(R71W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
PSEN2
(P69A)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
+2 more
GUncertain significance
PSEN2
(Q50R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PSEN2
(P334R +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 4
+2 more
GUncertain significance
PSEN2
(R62H)
Single nucleotide variant
(missense variant)
Alzheimer disease
+4 more
GBenign/Likely benign
PSEN2
(S130L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
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