C3151038[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 18124	NM_000021.4(PSEN1):c.488A>G (p.His163Arg)	PSEN1 (H163R +1 more)	Single nucleotide variant (missense variant)	PSEN1-related disorder +6 more	GPathogenic
Select item 18143	NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)	PSEN1 (G206A +1 more)	Single nucleotide variant (missense variant)	Pick disease +5 more	GPathogenic
Select item 98065	NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr)	PSEN1 (A231T +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +5 more	GLikely pathogenic
Select item 18136	NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)	PSEN1 (A426P +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GLikely pathogenic
Select item 1518360	NM_000021.4(PSEN1):c.1377A>G (p.Gln459=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +5 more	GConflicting classifications of pathogenicity
Select item 885414	NM_000021.4(PSEN1):c.*390T>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +4 more	GUncertain significance

ClinVar