RUVBL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 148370	GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1	ABTB1, ACAD9 +124 more	Copy number loss	See cases	GPathogenic
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 152304	GRCh38/hg38 3q21.3(chr3:127818502-128451950)x3	EEFSEC, KBTBD12 +32 more	Copy number gain	See cases	GUncertain significance
Select item 1183327	NM_013336.4(SEC61A1):c.617-22A>T	RUVBL1, SEC61A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1638118	NM_013336.4(SEC61A1):c.617-18CTC[2]	RUVBL1, SEC61A1	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2032997	NM_013336.4(SEC61A1):c.617-16C>T	RUVBL1, SEC61A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2986078	NM_013336.4(SEC61A1):c.617-12C>T	RUVBL1, SEC61A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2722263	NM_013336.4(SEC61A1):c.619A>G (p.Met207Val)	RUVBL1, SEC61A1 (M207V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1576942	NM_013336.4(SEC61A1):c.633T>G (p.Gly211=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1360517	NM_013336.4(SEC61A1):c.637A>G (p.Ile213Val)	RUVBL1, SEC61A1 (I213V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1633996	NM_013336.4(SEC61A1):c.642C>T (p.Ile214=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1919031	NM_013336.4(SEC61A1):c.646C>G (p.Leu216Val)	RUVBL1, SEC61A1 (L163V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1956425	NM_013336.4(SEC61A1):c.651C>T (p.Phe217=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3009196	NM_013336.4(SEC61A1):c.653A>G (p.His218Arg)	RUVBL1, SEC61A1 (H165R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1395846	NM_013336.4(SEC61A1):c.654T>A (p.His218Gln)	SEC61A1, RUVBL1 (H218Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1619806	NM_013336.4(SEC61A1):c.657G>C (p.Leu219=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2043650	NM_013336.4(SEC61A1):c.658C>T (p.Leu220=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2030334	NM_013336.4(SEC61A1):c.666A>T (p.Thr222=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2019137	NM_013336.4(SEC61A1):c.693G>C (p.Arg231=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1569417	NM_013336.4(SEC61A1):c.699G>A (p.Ala233=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1255613	NM_013336.4(SEC61A1):c.706C>T (p.Arg236Cys)	RUVBL1, SEC61A1 (R236C +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 1255612	NM_013336.4(SEC61A1):c.707G>A (p.Arg236His)	RUVBL1, SEC61A1 (R236H +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic liver disease	GUncertain significance
Select item 796287	NM_013336.4(SEC61A1):c.720C>G (p.Pro240=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3159382	NM_013336.4(SEC61A1):c.736A>C (p.Ile246Leu)	RUVBL1, SEC61A1 (I246L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2092054	NM_013336.4(SEC61A1):c.745A>G (p.Ile249Val)	RUVBL1, SEC61A1 (I196V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1718677	NM_013336.4(SEC61A1):c.755T>C (p.Phe252Ser)	RUVBL1, SEC61A1 (F199S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2704339	NM_013336.4(SEC61A1):c.761T>C (p.Val254Ala)	RUVBL1, SEC61A1 (V260A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2728053	NM_013336.4(SEC61A1):c.764T>C (p.Val255Ala)	RUVBL1, SEC61A1 (V202A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1095005	NM_013336.4(SEC61A1):c.774C>T (p.Phe258=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2977092	NM_013336.4(SEC61A1):c.777+11A>T	RUVBL1, SEC61A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2967509	NM_013336.4(SEC61A1):c.777+16A>G	RUVBL1, SEC61A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2073438	NM_013336.4(SEC61A1):c.777+20C>T	RUVBL1, SEC61A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1239920	NM_013336.4(SEC61A1):c.777+238T>C	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277151	NM_013336.4(SEC61A1):c.777+261G>A	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268713	NM_013336.4(SEC61A1):c.778-246G>A	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256715	NM_013336.4(SEC61A1):c.778-196C>T	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1631535	NM_013336.4(SEC61A1):c.778-14G>A	SEC61A1, RUVBL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170774	NM_013336.4(SEC61A1):c.784C>A (p.Arg262=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	Hyperuricemic nephropathy, familial juvenile type 4 +1 more	GBenign/Likely benign
Select item 3159383	NM_013336.4(SEC61A1):c.785G>A (p.Arg262Gln)	RUVBL1, SEC61A1 (R262Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3236200	NM_013336.4(SEC61A1):c.806C>T (p.Ser269Leu)	RUVBL1, SEC61A1 (S216L +2 more)	Single nucleotide variant (missense variant +1 more)	Hyperuricemic nephropathy, familial juvenile type 4	GUncertain significance
Select item 2396398	NM_013336.4(SEC61A1):c.811C>T (p.Arg271Cys)	RUVBL1, SEC61A1 (R218C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1462983	NM_013336.4(SEC61A1):c.817C>A (p.Arg273Ser)	RUVBL1, SEC61A1 (R273S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1993475	NM_013336.4(SEC61A1):c.833C>T (p.Thr278Ile)	RUVBL1, SEC61A1 (T284I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1450714	NM_013336.4(SEC61A1):c.836A>G (p.Tyr279Cys)	RUVBL1, SEC61A1 (Y279C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3352281	NM_013336.4(SEC61A1):c.849C>T (p.Leu283=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	SEC61A1-related disorder	GLikely benign
Select item 2797424	NM_013336.4(SEC61A1):c.859T>C (p.Ser287Pro)	RUVBL1, SEC61A1 (S293P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1371201	NM_013336.4(SEC61A1):c.869_877dup (p.Ile292_Leu293insProIleIle)	RUVBL1, SEC61A1	Duplication (intron variant)	not provided	GUncertain significance
Select item 2008246	NM_013336.4(SEC61A1):c.864C>T (p.Asn288=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1609427	NM_013336.4(SEC61A1):c.900C>T (p.Asn300=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1352639	NM_013336.4(SEC61A1):c.939T>G (p.Ser313Arg)	RUVBL1, SEC61A1 (S313R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2956888	NM_013336.4(SEC61A1):c.960G>C (p.Leu320=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1584193	NM_013336.4(SEC61A1):c.960G>T (p.Leu320=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2768193	NM_013336.4(SEC61A1):c.961C>T (p.Leu321=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2718491	NM_013336.4(SEC61A1):c.969C>G (p.Thr323=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2609365	NM_013336.4(SEC61A1):c.970T>C (p.Trp324Arg)	RUVBL1, SEC61A1 (W271R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2801091	NM_013336.4(SEC61A1):c.975G>A (p.Ser325=)	SEC61A1, RUVBL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2028303	NM_013336.4(SEC61A1):c.975+6T>A	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2082695	NM_013336.4(SEC61A1):c.975+7A>C	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811754	NM_013336.4(SEC61A1):c.975+17A>G	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2722523	NM_013336.4(SEC61A1):c.976-5C>T	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3159384	NM_013336.4(SEC61A1):c.977A>G (p.Asp326Gly)	RUVBL1, SEC61A1 (D332G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1943544	NM_013336.4(SEC61A1):c.980C>T (p.Thr327Met)	RUVBL1, SEC61A1 (T327M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2869740	NM_013336.4(SEC61A1):c.981G>A (p.Thr327=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1025938	NM_013336.4(SEC61A1):c.983C>T (p.Ser328Phe)	RUVBL1, SEC61A1 (S328F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1364979	NM_013336.4(SEC61A1):c.985T>C (p.Ser329Pro)	RUVBL1, SEC61A1 (S329P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1409777	NM_013336.4(SEC61A1):c.988G>A (p.Gly330Arg)	RUVBL1, SEC61A1 (G330R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2792716	NM_013336.4(SEC61A1):c.995C>T (p.Pro332Leu)	RUVBL1, SEC61A1 (P332L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1169855	NM_013336.4(SEC61A1):c.1002T>G (p.Arg334=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2860566	NM_013336.4(SEC61A1):c.1005T>C (p.Ala335=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2033949	NM_013336.4(SEC61A1):c.1029T>C (p.Tyr343=)	SEC61A1, RUVBL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1531946	NM_013336.4(SEC61A1):c.1059C>T (p.Ser353=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3159380	NM_013336.4(SEC61A1):c.1060G>A (p.Val354Met)	RUVBL1, SEC61A1 (V301M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1943013	NM_013336.4(SEC61A1):c.1069G>T (p.Asp357Tyr)	RUVBL1, SEC61A1 (D357Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1583818	NM_013336.4(SEC61A1):c.1074G>A (p.Pro358=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1519793	NM_013336.4(SEC61A1):c.1075G>C (p.Val359Leu)	RUVBL1, SEC61A1 (V359L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1156383	NM_013336.4(SEC61A1):c.1110C>G (p.Gly370=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1906809	NM_013336.4(SEC61A1):c.1122C>T (p.Phe374=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1503662	NM_013336.4(SEC61A1):c.1135T>A (p.Trp379Arg)	RUVBL1, SEC61A1 (W379R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2686028	NM_013336.4(SEC61A1):c.1141G>T (p.Glu381Ter)	RUVBL1, SEC61A1 (E381* +2 more)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency, common variable, 15	GPathogenic
Select item 3347795	NM_013336.4(SEC61A1):c.1166A>C (p.Asp389Ala)	RUVBL1, SEC61A1 (D336A +2 more)	Single nucleotide variant (missense variant +1 more)	SEC61A1-related disorder	GUncertain significance
Select item 2843614	NM_013336.4(SEC61A1):c.1167T>C (p.Asp389=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1441299	NM_013336.4(SEC61A1):c.1167+1G>A	RUVBL1, SEC61A1	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2758647	NM_013336.4(SEC61A1):c.1167+6dup	RUVBL1, SEC61A1	Duplication (intron variant)	not provided	GLikely benign
Select item 2901767	NM_013336.4(SEC61A1):c.1167+6T>C	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1636781	NM_013336.4(SEC61A1):c.1167+20T>C	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221505	NM_013336.4(SEC61A1):c.1167+96G>A	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1676884	NM_013336.4(SEC61A1):c.1167+111G>A	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253706	NM_013336.4(SEC61A1):c.1168-151T>G	SEC61A1, RUVBL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1552589	NM_013336.4(SEC61A1):c.1168-17C>T	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1532494	NM_013336.4(SEC61A1):c.1168-15G>C	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770746	NM_013336.4(SEC61A1):c.1168-11G>C	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013100	NM_013336.4(SEC61A1):c.1168-10C>T	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1909988	NM_013336.4(SEC61A1):c.1168-6C>G	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2765134	NM_013336.4(SEC61A1):c.1168-4del	RUVBL1, SEC61A1	Deletion (intron variant)	not provided	GLikely benign
Select item 1164875	NM_013336.4(SEC61A1):c.1168-4G>A	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1485535	NM_013336.4(SEC61A1):c.1168-3C>T	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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