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Items: 1 to 100 of 141

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSEN1
(R35Q +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+6 more
GConflicting classifications of pathogenicity
PSEN1
(A79V +1 more)
Single nucleotide variant
(missense variant)
Pick disease
+4 more
GPathogenic
PSEN1
(V82L +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
Deletion
(inframe_deletion)
not provided
Gnot provided
PSEN1
(L85P +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PSEN1
(V89L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
PSEN1
(C92S +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic
PSEN1
(V94M +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GUncertain significance
PSEN1
(V96F +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(V97L +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(F105I +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(F105L +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(L113P +1 more)
Single nucleotide variant
(missense variant)
Pick disease
+4 more
GLikely pathogenic
PSEN1
Deletion
(splice donor variant)
not provided
GPathogenic
PSEN1
(Y115D +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(Y115C +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+4 more
GPathogenic/Likely pathogenic
PSEN1
(T116I +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GPathogenic
PSEN1
(P117S +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GPathogenic
PSEN1
(P117L +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GLikely pathogenic
PSEN1
(E120K +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PSEN1
(E120D +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic
PSEN1
(E123K +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(N135D +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GLikely pathogenic
PSEN1
(N135S +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
PSEN1
(M139V +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+4 more
GPathogenic
PSEN1
(M139T +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic
PSEN1
(M139I +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(I143F +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(I143T +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+4 more
GPathogenic
PSEN1
(I143M +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(M146L +1 more)
Single nucleotide variant
(missense variant)
Pick disease
GPathogenic
PSEN1
(M146I +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
PSEN1
(T147I +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(L153V +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(Y154N +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(Y154C +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
Insertion
(inframe_insertion)
Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques
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
(W165G +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(W165C +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(L166del +1 more)
Deletion
(inframe_deletion)
not provided
Gnot provided
PSEN1
(I168del +1 more)
Microsatellite
(inframe_deletion)
not provided
Gnot provided
PSEN1
(L166R +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(S169P +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PSEN1
(S169L +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GPathogenic
PSEN1
(S170F +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic
PSEN1
(L171P +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GPathogenic
PSEN1
(L173W +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(L174M +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic
PSEN1
(L174R +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(F175S +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(F177L +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(F177S +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GPathogenic
PSEN1
(S178P +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GUncertain significance
PSEN1
(G183V +1 more)
Single nucleotide variant
(missense variant)
Pick disease
GPathogenic
PSEN1
(E184D +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GPathogenic
PSEN1
(G206S +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(G206V +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PSEN1
(G209R +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(G209V +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GPathogenic
PSEN1
(I213F +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(I213T +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(H214Y +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(G217D +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(L219F +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(L219P +1 more)
Single nucleotide variant
(missense variant)
Familial Alzheimer disease
GPathogenic
PSEN1
(Q222R +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(Q222H +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(L226F +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(L226R +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(I229F +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(A231T +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+5 more
GLikely pathogenic
PSEN1
(A231V +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(M233L +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(M233T +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic/Likely pathogenic
PSEN1
(M233I +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(L235V +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PSEN1
(L235P +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(F237L +1 more)
Single nucleotide variant
(missense variant)
Visual hallucination
+2 more
GLikely pathogenic
PSEN1
(T245P +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(A246E +1 more)
Single nucleotide variant
(missense variant)
Pick disease
+4 more
GPathogenic
PSEN1
(L250V +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(L250S +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic
PSEN1
(Y256S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
PSEN1
(A260V +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GPathogenic
PSEN1
(V261F +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(L262F +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PSEN1
(C263R +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(C263F +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(P264L +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+6 more
GPathogenic/Likely pathogenic
PSEN1
(P267S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PSEN1
(P267L +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GLikely pathogenic
PSEN1
(R269G +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(R269H +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia
+4 more
GPathogenic
PSEN1
(L271V +1 more)
Single nucleotide variant
(missense variant)
Pick disease
+3 more
GPathogenic
PSEN1
(V272A +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(E273A +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
PSEN1
(T274R +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GUncertain significance
PSEN1
(R278I +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+3 more
GPathogenic
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