"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PSEN2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380643	NM_000447.3(PSEN2):c.50G>A (p.Arg17Gln)	PSEN2 (R17Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 567646	NM_000447.3(PSEN2):c.184C>T (p.Arg62Cys)	PSEN2 (R62C)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +2 more	GUncertain significance
Select item 2682720	NM_000447.3(PSEN2):c.292_293del (p.Cys98fs)	PSEN2 (C98fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 652702	NM_000447.3(PSEN2):c.772G>A (p.Ala258Thr)	PSEN2 (A258T)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +2 more	GUncertain significance
Select item 3380653	NM_000447.3(PSEN2):c.1024C>T (p.Pro342Ser)	PSEN2 (P341S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 875452	NM_000447.3(PSEN2):c.1177G>A (p.Val393Met)	PSEN2 (V392M +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +2 more	GUncertain significance

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