"Fulgent Genetics, Fulgent Genetics"[submitter] AND "EXOSC3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 594188	NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer)	EXOSC3	Duplication (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1324354	NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)	EXOSC3 (Y143fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 1B	GPathogenic/Likely pathogenic
Select item 31688	NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	EXOSC3 (D132A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic
Select item 129024	NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)	EXOSC3 (V80F)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1B +2 more	GPathogenic/Likely pathogenic
Select item 31691	NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	EXOSC3 (G31A)	Single nucleotide variant (missense variant)	Lissencephaly +9 more	GPathogenic/Likely pathogenic
Select item 650346	NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)	EXOSC3 (R18S)	Indel (missense variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 935731	NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro)	EXOSC3 (A13P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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