"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "UTP23"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 776379	NM_032334.3(UTP23):c.509A>G (p.His170Arg)	UTP23 (H170R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3245563	NC_000008.10:g.(?_116426251)_(119965024_?)del	AARD, EIF3H +9 more	Deletion	not provided	GPathogenic
Select item 3245509	NC_000008.10:g.(?_116426251)_(120844804_?)del	AARD, CCN3 +14 more	Deletion	Trichorhinophalangeal dysplasia type I +1 more	GPathogenic
Select item 3245404	NC_000008.10:g.(?_116426251)_(120844804_?)dup	AARD, CCN3 +14 more	Duplication	Multiple congenital exostosis +2 more	GUncertain significance
Select item 2422394	NC_000008.10:g.(?_117647788)_(120797526_?)dup	AARD, CCN3 +12 more	Duplication	Multiple congenital exostosis	GUncertain significance
Select item 1444166	NC_000008.10:g.(?_117574515)_(117878968_?)dup	EIF3H, RAD21 +1 more	Duplication	Cornelia de Lange syndrome 4	GUncertain significance

ClinVar