ClinVar for MedGen (Select 56350) - ClinVar

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

Format

Sort by

Choose Destination

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671886	NM_020061.6(OPN1LW):c.764_765del (p.Glu255fs)	OPN1LW (E255fs)	Microsatellite (frameshift variant)	Protan defect	GLikely pathogenic
Select item 10506	NM_020061.6(OPN1LW):c.1013G>A (p.Gly338Glu)	OPN1LW (G338E)	Single nucleotide variant (missense variant)	Protan defect	GPathogenic
Select item 10505	NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg)	OPN1LW (C203R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

Format

Sort by

Choose Destination