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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSEN1
(A79V +1 more)
Single nucleotide variant
(missense variant)
Pick disease
+4 more
GPathogenic
PSEN1
(V89L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
PSEN1
(L113P +1 more)
Single nucleotide variant
(missense variant)
Pick disease
+4 more
GLikely pathogenic
PSEN1
(M139V +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+4 more
GPathogenic
PSEN1
(M146L +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+4 more
GPathogenic
PSEN1
(S170F +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic
PSEN1
(G183V +1 more)
Single nucleotide variant
(missense variant)
Pick disease
GPathogenic
PSEN1
(M233V +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+4 more
GPathogenic/Likely pathogenic
PSEN1
(Y256S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
PSEN1
(R269H +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia
+4 more
GPathogenic
PSEN1
(E280A +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+3 more
GPathogenic
PSEN1
(L392P +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+3 more
GPathogenic
PSEN1
(A431E +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+4 more
GPathogenic
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