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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSEN1
(V257I +1 more)
Single nucleotide variant
(missense variant)
Early onset Alzheimer disease with behavioral disturbance
GLikely pathogenic
PSEN1
(L271V +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+3 more
GPathogenic