Related gene-specific medical variations for Gene (Select 8607) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3159380	NM_013336.4(SEC61A1):c.1060G>A (p.Val354Met)	RUVBL1, SEC61A1 (V301M +2 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3087343	NM_021937.5(EEFSEC):c.244G>A (p.Gly82Ser)	EEFSEC, LOC129937512 +1 more (G82S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087342	NM_021937.5(EEFSEC):c.187C>T (p.Arg63Cys)	EEFSEC, LOC129937512 +1 more (R63C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087332	NM_021937.5(EEFSEC):c.130G>C (p.Glu44Gln)	EEFSEC, LOC129937512 +1 more (E44Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087331	NM_021937.5(EEFSEC):c.114G>T (p.Lys38Asn)	EEFSEC, LOC129937512 +1 more (K38N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3032511	NM_013336.4(SEC61A1):c.1336G>A (p.Gly446Arg)	RUVBL1, SEC61A1 (G393R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3013100	NM_013336.4(SEC61A1):c.1168-10C>T	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 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 2965282	NM_013336.4(SEC61A1):c.1388A>C (p.Lys463Thr)	RUVBL1, SEC61A1 (K463T +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 (L320F)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2908897	NM_013336.4(SEC61A1):c.1347C>T (p.Leu449=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2901767	NM_013336.4(SEC61A1):c.1167+6T>C	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2887786	NM_013336.4(SEC61A1):c.1218G>T (p.Glu406Asp)	RUVBL1, SEC61A1 (E412D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2869740	NM_013336.4(SEC61A1):c.981G>A (p.Thr327=)	SEC61A1, RUVBL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 2828209	NM_013336.4(SEC61A1):c.1244+17G>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 2801091	NM_013336.4(SEC61A1):c.975G>A (p.Ser325=)	RUVBL1, SEC61A1 (D326N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 2770746	NM_013336.4(SEC61A1):c.1168-11G>C	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	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 2765134	NM_013336.4(SEC61A1):c.1168-4del	RUVBL1, SEC61A1	Deletion (intron variant)	not provided	GLikely benign
Select item 2758647	NM_013336.4(SEC61A1):c.1167+6dup	RUVBL1, SEC61A1	Duplication (intron variant)	not provided	GLikely benign
Select item 2728053	NM_013336.4(SEC61A1):c.764T>C (p.Val255Ala)	SEC61A1, RUVBL1 (V202A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2722523	NM_013336.4(SEC61A1):c.976-5C>T	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	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 2718491	NM_013336.4(SEC61A1):c.969C>G (p.Thr323=)	RUVBL1, SEC61A1 (W324G)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2717594	NM_013336.4(SEC61A1):c.1225A>C (p.Met409Leu)	RUVBL1, SEC61A1 (M356L +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 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 2654109	NM_021937.5(EEFSEC):c.144G>T (p.Thr48=)	EEFSEC, LOC129937512 +1 more	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 +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553216	NM_021937.5(EEFSEC):c.176C>A (p.Pro59Gln)	EEFSEC, LOC129937512 +1 more (P59Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465244	NM_021937.5(EEFSEC):c.133C>G (p.Arg45Gly)	EEFSEC, LOC129937512 +1 more (R45G)	Single nucleotide variant (missense variant +1 more)	not specified	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 2283750	NM_021937.5(EEFSEC):c.55G>A (p.Gly19Ser)	EEFSEC, LOC129937512 +1 more (G19S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2189539	NM_013336.4(SEC61A1):c.1260C>T (p.Ala420=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2188022	NM_013336.4(SEC61A1):c.1390G>A (p.Glu464Lys)	RUVBL1, SEC61A1 (E411K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2160004	NM_013336.4(SEC61A1):c.1188G>A (p.Glu396=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2083960	NM_013336.4(SEC61A1):c.1371C>T (p.Tyr457=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2082695	NM_013336.4(SEC61A1):c.975+7A>C	SEC61A1, RUVBL1 (G329R)	Single nucleotide variant (missense 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 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 2042196	NM_013336.4(SEC61A1):c.1402G>A (p.Val468Ile)	RUVBL1, SEC61A1 (V415I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2033949	NM_013336.4(SEC61A1):c.1029T>C (p.Tyr343=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2032997	NM_013336.4(SEC61A1):c.617-16C>T	SEC61A1, RUVBL1	Single nucleotide variant (3 prime UTR 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 2028303	NM_013336.4(SEC61A1):c.975+6T>A	SEC61A1, RUVBL1 (S328R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2020529	NM_013336.4(SEC61A1):c.1245-3dup	SEC61A1, RUVBL1	Duplication (intron variant)	not provided	GBenign
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 2013527	NM_013336.4(SEC61A1):c.1338G>C (p.Gly446=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1993475	NM_013336.4(SEC61A1):c.833C>T (p.Thr278Ile)	RUVBL1, SEC61A1 (S278I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962099	NM_013336.4(SEC61A1):c.1290C>G (p.Ala430=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1946172	NM_013336.4(SEC61A1):c.1245-4C>T	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1919031	NM_013336.4(SEC61A1):c.646C>G (p.Leu216Val)	SEC61A1, RUVBL1 (L163V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1911477	NM_013336.4(SEC61A1):c.1260C>G (p.Ala420=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1909988	NM_013336.4(SEC61A1):c.1168-6C>G	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1909007	NM_013336.4(SEC61A1):c.1244+8G>T	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1716581	NM_013336.4(SEC61A1):c.1176G>C (p.Lys392Asn)	RUVBL1, SEC61A1 (K339N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1678185	NM_013336.4(SEC61A1):c.1393C>G (p.Gln465Glu)	RUVBL1, SEC61A1 (Q465E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1676884	NM_013336.4(SEC61A1):c.1167+111G>A	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1636781	NM_013336.4(SEC61A1):c.1167+20T>C	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633996	NM_013336.4(SEC61A1):c.642C>T (p.Ile214=)	SEC61A1, RUVBL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1631535	NM_013336.4(SEC61A1):c.778-14G>A	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1605982	NM_013336.4(SEC61A1):c.1317C>T (p.Gly439=)	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 (L320F)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
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 1578998	NM_013336.4(SEC61A1):c.1263G>A (p.Ala421=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 1552589	NM_013336.4(SEC61A1):c.1168-17C>T	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1541341	NM_013336.4(SEC61A1):c.1245-6C>T	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539359	NM_013336.4(SEC61A1):c.1244+8G>A	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1536401	NM_013336.4(SEC61A1):c.1245-18C>T	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533159	NM_013336.4(SEC61A1):c.1383C>T (p.Phe461=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	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 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 1519793	NM_013336.4(SEC61A1):c.1075G>C (p.Val359Leu)	RUVBL1, SEC61A1 (V359L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 1485535	NM_013336.4(SEC61A1):c.1168-3C>T	RUVBL1, SEC61A1	Single nucleotide variant (intron variant)	not provided	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

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