"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CLEC4F" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 775725	NM_173535.3(CLEC4F):c.1598G>A (p.Gly533Asp)	CLEC4F (G533D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775726	NM_173535.3(CLEC4F):c.1106T>C (p.Val369Ala)	CLEC4F (V369A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775727	NM_173535.3(CLEC4F):c.704C>T (p.Thr235Met)	CLEC4F (T235M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775728	NM_173535.3(CLEC4F):c.437A>G (p.Asn146Ser)	CLEC4F (N146S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic

ClinVar