ClinVar for Gene (Select 5978) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370397	REST, 2-BP DEL, 1901AG	REST	Deletion	Fibromatosis, gingival, 5	GPathogenic
Select item 3359380	NM_005612.5(REST):c.3063C>A (p.Asp1021Glu)	REST (D1021E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358339	NM_005612.5(REST):c.375T>G (p.Phe125Leu)	REST (F125L)	Single nucleotide variant (missense variant)	REST-related disorder	GUncertain significance
Select item 3353575	NM_005612.5(REST):c.278T>C (p.Leu93Pro)	REST (L93P)	Single nucleotide variant (missense variant)	REST-related disorder	GUncertain significance
Select item 3347323	NM_005612.5(REST):c.2615T>G (p.Leu872Ter)	REST (L872*)	Single nucleotide variant (nonsense)	REST-related disorder	GLikely pathogenic
Select item 3345684	NM_005612.5(REST):c.208G>A (p.Glu70Lys)	REST (E70K)	Single nucleotide variant (missense variant)	REST-related disorder	GUncertain significance
Select item 3344722	NM_005612.5(REST):c.2284_2287del (p.Val761_Lys762insTer)	REST	Deletion (nonsense)	REST-related disorder	GLikely pathogenic
Select item 3313687	NM_005612.5(REST):c.2170G>A (p.Val724Ile)	REST (V724I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313686	NM_005612.5(REST):c.2030G>T (p.Gly677Val)	REST (G677V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313685	NM_005612.5(REST):c.2100A>T (p.Gln700His)	REST (Q700H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257435	NM_005612.5(REST):c.2688A>G (p.Lys896=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3246739	NC_000004.11:g.(?_57795997)_(57798318_?)dup	REST	Duplication	not provided	GUncertain significance
Select item 3246738	NC_000004.11:g.(?_57785933)_(57793760_?)del	REST	Deletion	not provided	GUncertain significance
Select item 3246588	NC_000004.11:g.(?_55124936)_(57786056_?)del	AASDH, ARL9 +18 more	Deletion	Gastrointestinal stromal tumor	GPathogenic
Select item 3239285	NM_005612.5(REST):c.604G>T (p.Gly202Cys)	REST (G202C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3153125	NM_005612.5(REST):c.87C>A (p.Asp29Glu)	REST (D29E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153123	NM_005612.5(REST):c.3287A>G (p.Gln1096Arg)	REST (Q1096R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153122	NM_005612.5(REST):c.2209A>T (p.Met737Leu)	REST (M737L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061089	NM_005612.5(REST):c.2115C>G (p.Pro705=)	REST	Single nucleotide variant (synonymous variant)	REST-related disorder	GLikely benign
Select item 3060915	NM_005612.5(REST):c.2532T>C (p.Pro844=)	REST	Single nucleotide variant (synonymous variant)	REST-related disorder	GLikely benign
Select item 3056774	NM_005612.5(REST):c.1374T>C (p.Ala458=)	REST	Single nucleotide variant (synonymous variant)	REST-related disorder	GLikely benign
Select item 3044985	NM_005612.5(REST):c.1170T>A (p.Asn390Lys)	REST (N390K)	Single nucleotide variant (missense variant)	REST-related disorder	GUncertain significance
Select item 3044943	NM_005612.5(REST):c.3234C>T (p.His1078=)	REST	Single nucleotide variant (synonymous variant)	REST-related disorder	GLikely benign
Select item 3036135	NM_005612.5(REST):c.2088G>A (p.Thr696=)	REST	Single nucleotide variant (synonymous variant)	REST-related disorder	GLikely benign
Select item 3033506	NM_005612.5(REST):c.131C>G (p.Pro44Arg)	REST (P44R)	Single nucleotide variant (missense variant)	REST-related disorder	GUncertain significance
Select item 3031292	NM_005612.5(REST):c.2340G>A (p.Glu780=)	REST	Single nucleotide variant (synonymous variant)	REST-related disorder	GLikely benign
Select item 3030152	NM_005612.5(REST):c.983-2245A>G	REST	Single nucleotide variant (intron variant)	REST-related disorder	GLikely benign
Select item 3025396	NM_005612.5(REST):c.385G>A (p.Gly129Ser)	REST (G129S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3021874	NM_005612.5(REST):c.919G>C (p.Glu307Gln)	REST (E307Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020992	NM_005612.5(REST):c.1835A>G (p.Gln612Arg)	REST (Q612R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018049	NM_005612.5(REST):c.2925C>T (p.Pro975=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017887	NM_005612.5(REST):c.730A>G (p.Asn244Asp)	REST (N244D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016653	NM_005612.5(REST):c.1423A>G (p.Lys475Glu)	REST (K475E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016489	NM_005612.5(REST):c.1651T>C (p.Ser551Pro)	REST (S551P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015836	NM_005612.5(REST):c.2048C>T (p.Ala683Val)	REST (A683V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015792	NM_005612.5(REST):c.1246C>G (p.Pro416Ala)	REST (P416A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015734	NM_005612.5(REST):c.2045T>C (p.Leu682Pro)	REST (L682P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015268	NM_005612.5(REST):c.1316A>G (p.Asp439Gly)	REST (D439G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014871	NM_005612.5(REST):c.2095G>T (p.Ala699Ser)	REST (A699S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013662	NM_005612.5(REST):c.576A>G (p.Ala192=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009093	NM_005612.5(REST):c.2155G>A (p.Ala719Thr)	REST (A719T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006879	NM_005612.5(REST):c.898+3A>G	REST	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3006033	NM_005612.5(REST):c.898+12T>A	REST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998835	NM_005612.5(REST):c.1592A>G (p.His531Arg)	REST (H531R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996586	NM_005612.5(REST):c.3284G>A (p.Gly1095Glu)	REST (G1095E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981646	NM_005612.5(REST):c.1566G>A (p.Lys522=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975293	NM_005612.5(REST):c.52A>G (p.Ser18Gly)	REST (S18G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966644	NM_005612.5(REST):c.3230A>G (p.Lys1077Arg)	REST (K1077R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962460	NM_005612.5(REST):c.616G>C (p.Ala206Pro)	REST (A206P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960203	NM_005612.5(REST):c.760A>T (p.Thr254Ser)	REST (T254S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957042	NM_005612.5(REST):c.2174A>G (p.Gln725Arg)	REST (Q725R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956151	NM_005612.5(REST):c.983-1G>A	REST	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2954872	NM_005612.5(REST):c.2029G>C (p.Gly677Arg)	REST (G677R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2919823	NM_005612.5(REST):c.2893A>G (p.Thr965Ala)	REST (T965A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911591	NM_005612.5(REST):c.3106C>T (p.Arg1036Trp)	REST (R1036W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909135	NM_005612.5(REST):c.289G>A (p.Ala97Thr)	REST (A97T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908696	NM_005612.5(REST):c.1398C>T (p.Val466=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908061	NM_005612.5(REST):c.982+10A>C	REST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906966	NM_005612.5(REST):c.2677C>T (p.Pro893Ser)	REST (P893S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905693	NM_005612.5(REST):c.264A>G (p.Glu88=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905086	NM_005612.5(REST):c.2875C>T (p.Leu959Phe)	REST (L959F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902238	NM_005612.5(REST):c.983-13G>A	REST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901656	NM_005612.5(REST):c.1641A>G (p.Val547=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901139	NM_005612.5(REST):c.1158A>T (p.Pro386=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901111	NM_005612.5(REST):c.1116T>C (p.Asp372=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897663	NM_005612.5(REST):c.2490G>T (p.Arg830Ser)	REST (R830S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897231	NM_005612.5(REST):c.2936T>C (p.Val979Ala)	REST (V979A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897062	NM_005612.5(REST):c.101A>G (p.His34Arg)	REST (H34R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896549	NM_005612.5(REST):c.1986T>G (p.Ala662=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895653	NM_005612.5(REST):c.2200T>A (p.Ser734Thr)	REST (S734T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895534	NM_005612.5(REST):c.2390_2391inv (p.Pro797Leu)	REST (P797L)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2895524	NM_005612.5(REST):c.968T>C (p.Met323Thr)	REST (M323T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894391	NM_005612.5(REST):c.3033C>T (p.Ile1011=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894171	NM_005612.5(REST):c.1454T>C (p.Val485Ala)	REST (V485A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892861	NM_005612.5(REST):c.1921G>A (p.Gly641Ser)	REST (G641S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892603	NM_005612.5(REST):c.975T>A (p.Thr325=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892233	NM_005612.5(REST):c.307C>A (p.Pro103Thr)	REST (P103T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2891567	NM_005612.5(REST):c.2897T>G (p.Val966Gly)	REST (V966G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890909	NM_005612.5(REST):c.1836G>C (p.Gln612His)	REST (Q612H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890202	NM_005612.5(REST):c.1137T>C (p.His379=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890059	NM_005612.5(REST):c.3143A>G (p.Lys1048Arg)	REST (K1048R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889586	NM_005612.5(REST):c.370G>C (p.Val124Leu)	REST (V124L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889207	NM_005612.5(REST):c.2576A>T (p.Asp859Val)	REST (D859V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888765	NM_005612.5(REST):c.2924C>A (p.Pro975His)	REST (P975H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888630	NM_005612.5(REST):c.201C>A (p.Val67=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888382	NM_005612.5(REST):c.744C>T (p.Tyr248=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888138	NM_005612.5(REST):c.2193G>A (p.Met731Ile)	REST (M731I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887334	NM_005612.5(REST):c.2228A>T (p.Glu743Val)	REST (E743V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886962	NM_005612.5(REST):c.1477C>T (p.Arg493Ter)	REST (R493*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2886408	NM_005612.5(REST):c.413A>G (p.Lys138Arg)	REST (K138R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885711	NM_005612.5(REST):c.1869G>A (p.Lys623=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884686	NM_005612.5(REST):c.2579T>A (p.Leu860His)	REST (L860H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884398	NM_005612.5(REST):c.2742C>G (p.Asn914Lys)	REST (N914K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2884213	NM_005612.5(REST):c.1197C>G (p.Ser399=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883823	NM_005612.5(REST):c.296T>G (p.Ile99Arg)	REST (I99R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883822	NM_005612.5(REST):c.1271A>C (p.Lys424Thr)	REST (K424T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880829	NM_005612.5(REST):c.3134A>G (p.Lys1045Arg)	REST (K1045R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870693	NM_005612.5(REST):c.62A>G (p.Asn21Ser)	REST (N21S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866423	NM_005612.5(REST):c.868A>C (p.Asn290His)	REST (N290H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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