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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSEN1
(A79V +1 more)
Single nucleotide variant
(missense variant)
Pick disease
+4 more
GPathogenic
PSEN1
(C92S +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic
PSEN1
(L113P +1 more)
Single nucleotide variant
(missense variant)
Pick disease
+4 more
GLikely pathogenic
PSEN1
Deletion
(splice donor variant)
not provided
GPathogenic
PSEN1
(E120D +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic
PSEN1
(M139V +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+4 more
GPathogenic
PSEN1
(M146V +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic
PSEN1
(M146L +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+4 more
GPathogenic
PSEN1
(M146I +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic
PSEN1
(H163Y +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic
PSEN1
(H163R +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
PSEN1
(L166P +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic
PSEN1
(S170F +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic
PSEN1
(L174M +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic
PSEN1
(G183V +1 more)
Single nucleotide variant
(missense variant)
Pick disease
GPathogenic
PSEN1
(G206A +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1U
+5 more
GPathogenic
PSEN1
(G217R +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+3 more
GLikely pathogenic
PSEN1
(A246E +1 more)
Single nucleotide variant
(missense variant)
Pick disease
+4 more
GPathogenic
PSEN1
(L250S +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic
PSEN1
(G266S +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GLikely pathogenic
PSEN1
(P267S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PSEN1
(L271V +1 more)
Single nucleotide variant
(missense variant)
Pick disease
+3 more
GPathogenic
PSEN1
(R278I +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+3 more
GPathogenic
PSEN1
(E280G +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+4 more
GPathogenic
PSEN1
(E280A +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+3 more
GPathogenic
PSEN1
(L286V +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PSEN1
Single nucleotide variant
(splice acceptor variant)
Alzheimer disease, familial, with spastic paraparesis and unusual plaques
+1 more
GPathogenic
PSEN1
(D333G +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia
+5 more
GConflicting classifications of pathogenicity
PSEN1
(L381F +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GLikely pathogenic
PSEN1
(C410Y +1 more)
Single nucleotide variant
(missense variant)
Pick disease
+3 more
GPathogenic
PSEN1
(A426P +1 more)
Single nucleotide variant
(missense variant)
Pick disease
+5 more
GLikely pathogenic
PSEN1
(A431E +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
PSEN1
(A434C +1 more)
Indel
(missense variant)
not provided
GPathogenic
PSEN1
(P436Q +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic
APOE
(R43C +1 more)
Single nucleotide variant
(missense variant)
Lipoprotein glomerulopathy
+6 more
GPathogenic/Likely pathogenic
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