"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PIAS3"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 773151	NM_006099.3(PIAS3):c.1783A>C (p.Ser595Arg)	PIAS3 (S595R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 756016	NM_006099.3(PIAS3):c.1583-8C>T	LOC126805850, PIAS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 726837	NM_006099.3(PIAS3):c.1335C>G (p.Val445=)	PIAS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728990	NM_006099.3(PIAS3):c.552T>C (p.Cys184=)	PIAS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1459111	NC_000001.10:g.(?_145414782)_(145610584_?)del	ANKRD34A, ANKRD35 +10 more	Deletion	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 1064148	NC_000001.10:g.(?_145414782)_(145610584_?)dup	LIX1L, NUDT17 +10 more	Duplication	Radial aplasia-thrombocytopenia syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ARL8A, CNIH4 +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance

ClinVar