"Fulgent Genetics, Fulgent Genetics"[submitter] AND "AP2S1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1670990	NM_004069.6(AP2S1):c.387G>A (p.Thr129=)	AP2S1	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia 3 +1 more	GLikely benign
Select item 1167857	NM_004069.6(AP2S1):c.261C>T (p.Phe87=)	AP2S1	Single nucleotide variant (synonymous variant +1 more)	Familial hypocalciuric hypercalcemia 3 +1 more	GBenign/Likely benign
Select item 1395311	NM_004069.6(AP2S1):c.153+5C>T	AP2S1	Single nucleotide variant (intron variant)	Familial hypocalciuric hypercalcemia 3 +1 more	GUncertain significance
Select item 1654562	NM_004069.6(AP2S1):c.111C>T (p.Ala37=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1596996	NM_004069.6(AP2S1):c.75T>C (p.Asp25=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 39424	NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys)	AP2S1 (R15C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1600451	NM_004069.6(AP2S1):c.4-14_4-12del	AP2S1	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign

ClinVar