"CHU Sainte-Justine Research Center, University of Montreal"[submitter - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 254110	NM_153606.4(GARIN4):c.1465T>C (p.Ser489Pro)	GARIN4 (S489P)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 254111	NM_153606.4(GARIN4):c.1475G>A (p.Gly492Asp)	GARIN4 (G492D)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign