"PreventionGenetics, part of Exact Sciences"[submitter] AND "EXOSC3"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 384313	NM_016042.4(EXOSC3):c.757A>G (p.Ile253Val)	EXOSC3 (I253V)	Single nucleotide variant (3 prime UTR variant +1 more)	EXOSC3-related disorder +2 more	GLikely benign
Select item 129026	NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His)	EXOSC3 (Y225H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 386440	NM_016042.4(EXOSC3):c.588T>C (p.Asp196=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	EXOSC3-related disorder +2 more	GLikely benign
Select item 129025	NM_016042.4(EXOSC3):c.498G>A (p.Gln166=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 2958688	NM_016042.4(EXOSC3):c.234G>C (p.Leu78=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B +1 more	GLikely benign
Select item 510036	NM_016042.4(EXOSC3):c.219C>A (p.Arg73=)	EXOSC3	Single nucleotide variant (synonymous variant)	EXOSC3-related disorder +2 more	GLikely benign
Select item 210963	NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile)	EXOSC3 (V65I)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 366878	NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)	EXOSC3 (N56H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity

ClinVar