"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "OPN3"[g - ClinVar

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

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 740740	NM_014322.3(OPN3):c.600C>A (p.Ser200=)	OPN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750178	NM_014322.3(OPN3):c.276C>T (p.Leu92=)	CHML, OPN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775697	NM_014322.3(OPN3):c.240G>C (p.Leu80=)	CHML, OPN3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3248036	NC_000001.10:g.(?_241661128)_(245027609_?)del	ADSS2, AKT3 +16 more	Deletion	not provided	GUncertain significance
Select item 3247844	NC_000001.10:g.(?_241661128)_(245027609_?)dup	ADSS2, AKT3 +16 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 2427727	NC_000001.10:g.(?_241661128)_(244218672_?)del	AKT3, CEP170 +10 more	Deletion	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ARL8A, CNIH4 +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 832829	NC_000001.10:g.(?_241661128)_(242034263_?)dup	CHML, EXO1 +4 more	Duplication	Fumarase deficiency	GUncertain significance
Select item 831850	NC_000001.10:g.(?_241661128)_(242034263_?)del	CHML, EXO1 +4 more	Deletion	Fumarase deficiency	GPathogenic
Select item 831714	NC_000001.10:g.(?_241661108)_(242431558_?)del	CHML, EXO1 +6 more	Deletion	Fumarase deficiency	GPathogenic