ClinVar for OMIM (Select 108960) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Links from OMIM

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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