"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PSEN2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1446296	NM_000447.3(PSEN2):c.85C>T (p.Arg29Cys)	PSEN2 (R29C)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +3 more	GUncertain significance
Select item 705672	NM_000447.3(PSEN2):c.162G>C (p.Glu54Asp)	PSEN2 (E54D)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +1 more	GLikely benign
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 1054623	NM_000447.3(PSEN2):c.203T>C (p.Val68Ala)	PSEN2 (V68A)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +1 more	GUncertain significance
Select item 191771	NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala)	PSEN2 (P69A)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +2 more	GUncertain significance
Select item 695724	NM_000447.3(PSEN2):c.520A>G (p.Met174Val)	PSEN2 (M174V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 448151	NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe)	PSEN2 (L238F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1555813	NM_000447.3(PSEN2):c.886+16G>A	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4 +1 more	GBenign/Likely benign
Select item 1678339	NM_000447.3(PSEN2):c.902C>T (p.Thr301Met)	PSEN2 (T301M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 97998	NM_000447.3(PSEN2):c.1001C>G (p.Pro334Arg)	PSEN2 (P334R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1V +2 more	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