"Invitae"[submitter] AND "PDIA2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 787682	NM_006849.4(PDIA2):c.780G>A (p.Thr260=)	PDIA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781316	NM_006849.4(PDIA2):c.1497G>A (p.Thr499=)	PDIA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	UNKL, UQCC4 +64 more	Deletion	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	ANTKMT, ARHGDIG +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	ANTKMT, ARHGDIG +55 more	Deletion	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2425036	NC_000016.9:g.(?_256302)_(633035_?)del	ARHGDIG, AXIN1 +13 more	Deletion	Epilepsy	GPathogenic
Select item 2425034	NC_000016.9:g.(?_289853)_(626274_?)dup	PDIA2, ARHGDIG +12 more	Duplication	Epilepsy	GUncertain significance

ClinVar