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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSEN1
(M233T +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GPathogenic/Likely pathogenic
PSEN1
(L271V +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+3 more
GPathogenic
PSEN1
(F384S +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
GUncertain significance
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