"SIB Swiss Institute of Bioinformatics"[submitter] AND "NPR3"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285628	NM_001204375.2(NPR3):c.442T>C (p.Ser148Pro)	LOC123493284, NPR3 (S148P)	Single nucleotide variant (missense variant +1 more)	Boudin-Mortier syndrome	GLikely pathogenic
Select item 1285630	NM_001204375.2(NPR3):c.1088A>T (p.Asp363Val)	NPR3 (D363V +3 more)	Single nucleotide variant (missense variant)	Boudin-Mortier syndrome	GLikely pathogenic