"Ambry Genetics"[submitter] AND "LOC123493284"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2242084	NM_001204375.2(NPR3):c.157A>G (p.Ile53Val)	LOC123493284, NPR3 (I53V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2073147	NM_001204375.2(NPR3):c.272G>T (p.Arg91Leu)	LOC123493284, NPR3 (R91L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2308563	NM_001204375.2(NPR3):c.626T>A (p.Leu209Gln)	LOC123493284, NPR3 (L209Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1387753	NM_001204375.2(NPR3):c.683G>A (p.Gly228Asp)	LOC123493284, NPR3 (G228D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1376340	NM_001204375.2(NPR3):c.688C>T (p.His230Tyr)	LOC123493284, NPR3 (H230Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2481594	NM_001204375.2(NPR3):c.743T>C (p.Val248Ala)	LOC123493284, NPR3 (V248A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1519290	NM_001204375.2(NPR3):c.763G>C (p.Glu255Gln)	LOC123493284, NPR3 (E255Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

ClinVar