C3553449[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 41

	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 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	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	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 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 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 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 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 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 31688	NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	EXOSC3 (D132A)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1B +5 more	GPathogenic
Select item 841376	NM_016042.4(EXOSC3):c.361G>A (p.Val121Met)	EXOSC3 (V121M)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 210964	NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile)	EXOSC3 (V110I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 914612	NM_016042.4(EXOSC3):c.325-6T>C	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GConflicting classifications of pathogenicity
Select item 914613	NM_016042.4(EXOSC3):c.324+15C>T	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GConflicting classifications of pathogenicity
Select item 2873713	NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)	EXOSC3 (D76fs)	Duplication (frameshift variant)	Pontocerebellar hypoplasia type 1B	GPathogenic/Likely pathogenic
Select item 210963	NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile)	EXOSC3 (V65I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	EXOSC3-related condition +3 more	GConflicting classifications of pathogenicity
Select item 706943	NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly)	EXOSC3 (R51G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 746975	NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro)	EXOSC3 (R18P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 746976	NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys)	EXOSC3 (R18C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 912644	NM_016042.4(EXOSC3):c.42C>T (p.Gly14=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GConflicting classifications of pathogenicity
Select item 912645	NM_016042.4(EXOSC3):c.37G>A (p.Ala13Thr)	EXOSC3 (A13T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
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 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 specified +1 more	GBenign

ClinVar

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Items: 41