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Items: 1 to 100 of 123

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063041, LOC130063042
+687 more
Copy number gain
See cases
GPathogenic
LOC130062978, LOC130062979
+903 more
Copy number gain
See cases
GPathogenic
LOC130062818, LOC130062819
+332 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+321 more
Copy number gain
See cases
GPathogenic
BSG, BSG-AS1
+74 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+429 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+301 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+453 more
Copy number gain
See cases
GLikely pathogenic
ABCA7, ARHGAP45
+168 more
Copy number gain
See cases
GPathogenic
AZU1, CFD
+25 more
Copy number gain
See cases
GUncertain significance
ABCA7, ARHGAP45
+136 more
Copy number loss
See cases
GPathogenic
PLPPR3
(A741V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(M711K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(E699K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(L693P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(R682P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P707L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(A704E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(A672V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P697S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P668A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(T663M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(T663A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(V659I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(E678Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(G636A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P635R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(G655D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(E603D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(H594R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(H590Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(H617Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(H586Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(T610A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(S573L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P572L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(S567L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(S558L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P561S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(G506S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(E498K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P497L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P519L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(R481P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(R481L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P476T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P470T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(L496R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P493R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(A464V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(E450K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(E449K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(E447D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(A427S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(S437N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(T394A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MIR3187, PLPPR3
(P406S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
MIR3187, PLPPR3
(R362H +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
PLPPR3
(G347D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(E342D +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PLPPR3
(R341P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(R341C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P338S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(R365W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(N318S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(Q345R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(D312N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(H311Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(A299T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P289L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P289A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(A271V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P288S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(A242V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(A268T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P238L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLPPR3
(T234I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLPPR3
(L233V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLPPR3
(A230T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLPPR3
(P222L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLPPR3
(A215T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(T209M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(G190S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P181L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(T175M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P160S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(T155M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(R132W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(R128Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(G119S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(N117S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(G114S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(M94L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(A86T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(D43N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(S32F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(V24L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(D13H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P11R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLPPR3
(P11A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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