"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ABHD2"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 743653	NM_152924.5(ABHD2):c.926+9G>T	ABHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787965	NM_152924.5(ABHD2):c.936C>T (p.His312=)	ABHD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777877	NM_152924.5(ABHD2):c.1200C>T (p.Tyr400=)	ABHD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710075	NM_152924.5(ABHD2):c.1260G>A (p.Val420=)	ABHD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3243685	NC_000015.9:g.(?_89379429)_(91312836_?)del	ABHD2, ACAN +29 more	Deletion	D-2-hydroxyglutaric aciduria 2 +1 more	GConflicting classifications of pathogenicity
Select item 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	ABHD2, ACAN +37 more	Duplication	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance

ClinVar