EXOSC3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 366867	NM_016042.4(EXOSC3):c.*954G>A	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 366868	NM_016042.4(EXOSC3):c.*881A>G	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 366869	NM_016042.4(EXOSC3):c.*847T>A	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 366870	NM_016042.4(EXOSC3):c.*812T>G	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 366871	NM_016042.4(EXOSC3):c.*795A>G	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 912609	NM_016042.4(EXOSC3):c.*611A>G	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 366872	NM_016042.4(EXOSC3):c.*582A>C	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 366873	NM_016042.4(EXOSC3):c.*571TAT[1]	EXOSC3	Microsatellite (3 prime UTR variant)	Pontoneocerebellar hypoplasia	GLikely benign
Select item 912610	NM_016042.4(EXOSC3):c.*555A>C	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 912611	NM_016042.4(EXOSC3):c.*419A>G	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 366874	NM_016042.4(EXOSC3):c.*402C>T	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 913704	NM_016042.4(EXOSC3):c.*354C>A	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 366875	NM_016042.4(EXOSC3):c.*354C>G	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 913705	NM_016042.4(EXOSC3):c.*312T>G	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 913706	NM_016042.4(EXOSC3):c.*296T>C	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GBenign
Select item 913707	NM_016042.4(EXOSC3):c.*242A>C	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 913708	NM_016042.4(EXOSC3):c.*197C>T	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B +1 more	GBenign
Select item 366876	NM_016042.4(EXOSC3):c.*194G>C	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 366877	NM_016042.4(EXOSC3):c.*118G>T	EXOSC3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 913709	NM_016042.4(EXOSC3):c.*64C>T	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B +1 more	GLikely benign
Select item 914101	NM_016042.4(EXOSC3):c.*63T>G	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 970610	NM_016042.4(EXOSC3):c.822_*6del (p.Glu274fs)	EXOSC3 (E274fs)	Deletion (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 2830545	NM_016042.4(EXOSC3):c.825T>C (p.Ser275=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2757470	NM_016042.4(EXOSC3):c.816G>A (p.Leu272=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2783961	NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GBenign
Select item 2195110	NM_016042.4(EXOSC3):c.813del (p.Arg271fs)	EXOSC3 (R271fs)	Deletion (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 758579	NM_016042.4(EXOSC3):c.813A>G (p.Arg271=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2910696	NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GBenign
Select item 1223416	NM_016042.4(EXOSC3):c.808_810del (p.Ser270del)	EXOSC3 (S270del)	Deletion (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 2788412	NM_016042.4(EXOSC3):c.804C>T (p.Ile268=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 3366462	NM_016042.4(EXOSC3):c.797_798del (p.Lys266fs)	EXOSC3 (K266fs)	Deletion (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2840066	NM_016042.4(EXOSC3):c.797A>G (p.Lys266Arg)	EXOSC3 (K266R)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 2241261	NM_016042.4(EXOSC3):c.788A>C (p.Asp263Ala)	EXOSC3 (D263A)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 661315	NM_016042.4(EXOSC3):c.785C>T (p.Ser262Leu)	EXOSC3 (S262L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 772755	NM_016042.4(EXOSC3):c.783G>A (p.Thr261=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 571172	NM_016042.4(EXOSC3):c.782C>T (p.Thr261Met)	EXOSC3 (T261M)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 384313	NM_016042.4(EXOSC3):c.757A>G (p.Ile253Val)	EXOSC3 (I253V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2900103	NM_016042.4(EXOSC3):c.753A>C (p.Ala251=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 1432342	NM_016042.4(EXOSC3):c.743T>C (p.Leu248Ser)	EXOSC3 (L248S)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 2770925	NM_016042.4(EXOSC3):c.741T>C (p.Thr247=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 1347428	NM_016042.4(EXOSC3):c.736_737delinsAC (p.Gln246Thr)	EXOSC3 (Q246T)	Indel (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 2767586	NM_016042.4(EXOSC3):c.714G>A (p.Trp238Ter)	EXOSC3 (W238*)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GPathogenic
Select item 31692	NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)	EXOSC3 (W238R)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely pathogenic
Select item 1407039	NM_016042.4(EXOSC3):c.709A>G (p.Ile237Val)	EXOSC3 (I237V)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 914102	NM_016042.4(EXOSC3):c.709A>C (p.Ile237Leu)	EXOSC3 (I237L)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 2500779	NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)	EXOSC3 (G235R)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely pathogenic
Select item 3020881	NM_016042.4(EXOSC3):c.702T>C (p.Asn234=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2043038	NM_016042.4(EXOSC3):c.691T>G (p.Phe231Val)	EXOSC3 (F231V)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 2694561	NM_016042.4(EXOSC3):c.684G>A (p.Glu228=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2150004	NM_016042.4(EXOSC3):c.680T>C (p.Leu227Pro)	EXOSC3 (L227P)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 3008556	NM_016042.4(EXOSC3):c.675T>C (p.Tyr225=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2501219	NM_016042.4(EXOSC3):c.673dup (p.Tyr225fs)	EXOSC3 (Y225fs)	Duplication (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2082361	NM_016042.4(EXOSC3):c.674A>G (p.Tyr225Cys)	EXOSC3 (Y225C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 129026	NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His)	EXOSC3 (Y225H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 2154660	NM_016042.4(EXOSC3):c.671T>A (p.Leu224His)	EXOSC3 (L224H)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 2487801	NM_016042.4(EXOSC3):c.668A>T (p.Lys223Ile)	EXOSC3 (K223I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2883557	NM_016042.4(EXOSC3):c.663G>A (p.Val221=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 3366785	NM_016042.4(EXOSC3):c.660dup (p.Val221fs)	EXOSC3 (V221fs)	Duplication (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2848458	NM_016042.4(EXOSC3):c.642T>C (p.Asp214=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2349297	NM_016042.4(EXOSC3):c.641A>G (p.Asp214Gly)	EXOSC3 (D214G)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2908394	NM_016042.4(EXOSC3):c.630A>G (p.Leu210=)	EXOSC3 (I160V)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 390323	NM_016042.4(EXOSC3):c.627-3C>T	EXOSC3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1087480	NM_016042.4(EXOSC3):c.627-12_627-8del	EXOSC3	Deletion (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2049254	NM_016042.4(EXOSC3):c.627-16_627-12del	EXOSC3	Microsatellite (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2959174	NM_016042.4(EXOSC3):c.627-18C>A	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 1278314	NM_016042.4(EXOSC3):c.627-241T>C	EXOSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677530	NM_016042.4(EXOSC3):c.626+245A>C	EXOSC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680124	NM_016042.4(EXOSC3):c.626+92G>A	EXOSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2884832	NM_016042.4(EXOSC3):c.626+15C>G	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2793975	NM_016042.4(EXOSC3):c.626+11A>G	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 1329042	NM_016042.4(EXOSC3):c.624_626+1del	EXOSC3	Deletion (intron variant +1 more)	Pontocerebellar hypoplasia type 1B +1 more	GLikely pathogenic
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 2328014	NM_016042.4(EXOSC3):c.619A>T (p.Ile207Phe)	EXOSC3 (I207F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2699878	NM_016042.4(EXOSC3):c.615C>T (p.Gly205=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2907468	NM_016042.4(EXOSC3):c.594G>C (p.Leu198=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2784114	NM_016042.4(EXOSC3):c.594G>A (p.Leu198=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2764185	NM_016042.4(EXOSC3):c.592C>T (p.Leu198=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 1532002	NM_016042.4(EXOSC3):c.591T>G (p.Gly197=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 3276834	NM_016042.4(EXOSC3):c.590G>T (p.Gly197Val)	EXOSC3 (G197V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 386440	NM_016042.4(EXOSC3):c.588T>C (p.Asp196=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3276838	NM_016042.4(EXOSC3):c.586G>A (p.Asp196Asn)	EXOSC3 (D196N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2723993	NM_016042.4(EXOSC3):c.582A>G (p.Gly194=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2724796	NM_016042.4(EXOSC3):c.579T>C (p.Ile193=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 210965	NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)	EXOSC3 (G191D)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 1B +1 more	GLikely pathogenic
Select item 183048	NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys)	EXOSC3 (G191C)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 1B	GPathogenic
Select item 1405008	NM_016042.4(EXOSC3):c.557G>A (p.Arg186Gln)	EXOSC3 (R186Q)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 1723242	NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)	EXOSC3 (R186*)	Single nucleotide variant (nonsense +1 more)	Pontocerebellar hypoplasia type 1B +1 more	GPathogenic
Select item 3017596	NM_016042.4(EXOSC3):c.555A>G (p.Gly185=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2735274	NM_016042.4(EXOSC3):c.551del (p.Cys184fs)	EXOSC3 (C184fs)	Deletion (frameshift variant +1 more)	Pontocerebellar hypoplasia type 1B	GPathogenic
Select item 3091195	NM_016042.4(EXOSC3):c.547A>G (p.Ser183Gly)	EXOSC3 (S183G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2966554	NM_016042.4(EXOSC3):c.546C>T (p.Asp182=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2577123	NM_016042.4(EXOSC3):c.545A>T (p.Asp182Val)	EXOSC3 (D182V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 384297	NM_016042.4(EXOSC3):c.540T>C (p.Cys180=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B +1 more	GBenign
Select item 2865986	NM_016042.4(EXOSC3):c.537C>T (p.Val179=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2915019	NM_016042.4(EXOSC3):c.531G>A (p.Glu177=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 129025	NM_016042.4(EXOSC3):c.498G>A (p.Gln166=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 3276837	NM_016042.4(EXOSC3):c.497A>G (p.Gln166Arg)	EXOSC3 (Q166R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2089777	NM_016042.4(EXOSC3):c.491A>G (p.Tyr164Cys)	EXOSC3 (Y164C)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 1675306	NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly)	EXOSC3 (D161G)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely pathogenic
Select item 432391	NM_016042.4(EXOSC3):c.476T>C (p.Val159Ala)	EXOSC3 (V159A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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