"Ambry Genetics"[submitter] AND "PSEN2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 295987	NM_000447.3(PSEN2):c.38T>C (p.Val13Ala)	PSEN2 (V13A)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +2 more	GUncertain significance
Select item 855512	NM_000447.3(PSEN2):c.80C>T (p.Thr27Met)	PSEN2 (T27M)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +1 more	GUncertain significance
Select item 1446296	NM_000447.3(PSEN2):c.85C>T (p.Arg29Cys)	PSEN2 (R29C)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +2 more	GUncertain significance
Select item 2282340	NM_000447.3(PSEN2):c.217C>T (p.Pro73Ser)	PSEN2 (P73S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239312	NM_000447.3(PSEN2):c.992T>C (p.Phe331Ser)	PSEN2 (F330S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531235	NM_000447.3(PSEN2):c.1168G>T (p.Ala390Ser)	PSEN2 (A390S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408050	NM_000447.3(PSEN2):c.1260C>G (p.Ile420Met)	PSEN2 (I419M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488385	NM_000447.3(PSEN2):c.1288A>G (p.Thr430Ala)	PSEN2 (T429A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar