"GeneDx"[submitter] AND "EXOSC3"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 390323	NM_016042.4(EXOSC3):c.627-3C>T	EXOSC3	Single nucleotide variant (intron variant)	not specified	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 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 384297	NM_016042.4(EXOSC3):c.540T>C (p.Cys180=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 432391	NM_016042.4(EXOSC3):c.476T>C (p.Val159Ala)	EXOSC3 (V159A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 488793	NM_016042.4(EXOSC3):c.475-12A>G	EXOSC3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1264966	NM_016042.4(EXOSC3):c.474+295A>G	EXOSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175636	NM_016042.4(EXOSC3):c.474+186A>T	EXOSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383585	NM_016042.4(EXOSC3):c.430T>C (p.Leu144=)	EXOSC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1310760	NM_016042.4(EXOSC3):c.420_422del (p.Leu141del)	EXOSC3 (L141del)	Deletion (inframe_deletion)	not provided	GUncertain significance
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 1291046	NM_016042.4(EXOSC3):c.325-163T>G	EXOSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309313	NM_016042.4(EXOSC3):c.322C>T (p.Arg108Trp)	EXOSC3 (R108W)	Single nucleotide variant (missense variant)	not provided +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
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 426671	NM_016042.4(EXOSC3):c.238G>C (p.Val80Leu)	EXOSC3 (V80L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 510036	NM_016042.4(EXOSC3):c.219C>A (p.Arg73=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B +1 more	GLikely benign
Select item 210963	NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile)	EXOSC3 (V65I)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1B +3 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 +2 more	GConflicting classifications of pathogenicity
Select item 280004	NM_016042.4(EXOSC3):c.155del (p.Pro52fs)	EXOSC3 (P52fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 706943	NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly)	EXOSC3 (R51G)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1B +1 more	GLikely benign
Select item 705030	NM_016042.4(EXOSC3):c.123C>T (p.Asp41=)	EXOSC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1313706	NM_016042.4(EXOSC3):c.94G>A (p.Glu32Lys)	EXOSC3 (E32K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 372991	NM_016042.4(EXOSC3):c.80T>G (p.Val27Gly)	EXOSC3 (V27G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1803355	NM_016042.4(EXOSC3):c.35T>C (p.Leu12Pro)	EXOSC3 (L12P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 387842	NM_016042.4(EXOSC3):c.24G>T (p.Ala8=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B +1 more	GLikely benign
Select item 546514	NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser)	EXOSC3 (A5S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1B +1 more	GUncertain significance
Select item 932631	NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr)	EXOSC3 (M1T)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 1B +2 more	GPathogenic/Likely pathogenic
Select item 366879	NM_016042.4(EXOSC3):c.-11T>C	EXOSC3	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 366880	NM_016042.4(EXOSC3):c.-12G>C	EXOSC3	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 1300468	NC_000009.12:g.37785180C>T	EXOSC3	Single nucleotide variant	not provided	GLikely benign
Select item 670512	NM_016042.3(EXOSC3):c.-203G>A	EXOSC3	Single nucleotide variant	not provided	GLikely benign
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 46