Related gene-specific medical variations for Gene (Select 51010) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3016553	NM_016042.4(EXOSC3):c.279T>C (p.Ser93=)	EXOSC3, LOC130001814	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 3014226	NM_016042.4(EXOSC3):c.258C>T (p.Leu86=)	EXOSC3, LOC130001814	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2983189	NM_016042.4(EXOSC3):c.246G>A (p.Lys82=)	EXOSC3, LOC130001814	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2908421	NM_016042.4(EXOSC3):c.297_298insG (p.Tyr100fs)	EXOSC3, LOC130001814 (Y100fs)	Insertion (frameshift variant)	Pontocerebellar hypoplasia type 1B	GPathogenic
Select item 2870537	NM_016042.4(EXOSC3):c.276C>T (p.Gly92=)	EXOSC3, LOC130001814	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2803117	NM_016042.4(EXOSC3):c.249C>T (p.Cys83=)	EXOSC3, LOC130001814	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2731843	NM_016042.4(EXOSC3):c.240C>T (p.Val80=)	EXOSC3, LOC130001814	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2714264	NM_016042.4(EXOSC3):c.288C>T (p.Gly96=)	EXOSC3, LOC130001814	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2696591	NM_016042.4(EXOSC3):c.264C>T (p.His88=)	EXOSC3, LOC130001814	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2689034	NM_016042.4(EXOSC3):c.209G>A (p.Gly70Asp)	EXOSC3 (G70D)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 2183051	NM_016042.4(EXOSC3):c.285CGG[2] (p.Gly98del)	EXOSC3, LOC130001814 (G98del)	Microsatellite (inframe_deletion)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 1698880	NM_016042.4(EXOSC3):c.251G>T (p.Gly84Val)	EXOSC3, LOC130001814 (G84V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 1593622	NM_016042.4(EXOSC3):c.261T>A (p.Arg87=)	EXOSC3, LOC130001814	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 1483518	NM_016042.4(EXOSC3):c.259C>A (p.Arg87Ser)	EXOSC3, LOC130001814 (R87S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 1343679	NM_016042.4(EXOSC3):c.294T>A (p.Gly98=)	EXOSC3, LOC130001814	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1322842	NM_016042.4(EXOSC3):c.382dup (p.Ile128fs)	EXOSC3 (I128fs)	Duplication (frameshift variant)	Pontocerebellar hypoplasia type 1B	GPathogenic
Select item 1212158	NM_016042.4(EXOSC3):c.247T>G (p.Cys83Gly)	EXOSC3, LOC130001814 (C83G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 430520	NM_016042.4(EXOSC3):c.271C>A (p.Pro91Thr)	EXOSC3, LOC130001814 (P91T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance