"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "OGFOD3" - ClinVar - NCBI

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

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Search results

Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 777261	NM_024648.3(OGFOD3):c.147G>A (p.Leu49=)	OGFOD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 3242977	NC_000017.10:g.(?_80039865)_(80901020_?)dup	CCDC57, CD7 +18 more	Duplication	Epileptic encephalopathy	GUncertain significance
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 2423509	NC_000017.10:g.(?_80332201)_(80758892_?)dup	CYBC1, FN3K +10 more	Duplication	not provided	GUncertain significance

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File