REL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 60146	GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1	B3GNT2, BCL11A +161 more	Copy number loss	See cases	GPathogenic
Select item 60147	GRCh38/hg38 2p16.1-15(chr2:57249378-61842734)x1	LOC110120782, LOC110120811 +123 more	Copy number loss	See cases	GPathogenic
Select item 154940	GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1	B3GNT2, BCL11A +177 more	Copy number loss	See cases	GPathogenic
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 60178	GRCh38/hg38 2p16.1-15(chr2:59224998-61621710)x1	BCL11A, C2orf74 +85 more	Copy number loss	See cases	GPathogenic
Select item 57148	GRCh38/hg38 2p16.1-15(chr2:59658846-62336083)x1	B3GNT2, BCL11A +118 more	Copy number loss	See cases	GPathogenic
Select item 58870	GRCh38/hg38 2p16.1-15(chr2:60009106-62006709)x3	BCL11A, C2orf74 +96 more	Copy number gain	See cases	GUncertain significance
Select item 150334	GRCh38/hg38 2p16.1-15(chr2:60359313-61704436)x3	BCL11A, C2orf74 +72 more	Copy number gain	See cases	GLikely pathogenic
Select item 148468	GRCh38/hg38 2p16.1-15(chr2:60359313-61775405)x3	BCL11A, C2orf74 +73 more	Copy number gain	See cases	GUncertain significance
Select item 2102685	NM_001291746.2(REL):c.6C>A (p.Ala2=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747785	NM_001291746.2(REL):c.10+8T>C	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972125	NM_001291746.2(REL):c.10+10C>T	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970920	NM_001291746.2(REL):c.10+11A>T	REL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1972965	NM_001291746.2(REL):c.10+12T>C	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 146630	GRCh38/hg38 2p16.1(chr2:60886284-60922484)x1	LOC122757949, REL	Copy number loss	See cases	GBenign
Select item 2688308	NM_001291746.2(REL):c.11-79A>G	REL	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2797513	NM_001291746.2(REL):c.11G>A (p.Gly4Asp)	REL (G4D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050457	NM_001291746.2(REL):c.24G>A (p.Pro8=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892802	NM_001291746.2(REL):c.57G>A (p.Arg19=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101695	NM_001291746.2(REL):c.128A>G (p.Asn43Ser)	REL (N43S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975388	NM_001291746.2(REL):c.132C>T (p.Asn44=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053835	NM_001291746.2(REL):c.133C>A (p.Arg45=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2009009	NM_001291746.2(REL):c.138A>G (p.Thr46=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126898	NM_001291746.2(REL):c.153+17C>T	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688192	NM_001291746.2(REL):c.154-40G>A	REL	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2789933	NM_001291746.2(REL):c.154-14C>T	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873223	NM_001291746.2(REL):c.154-12C>T	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924275	NM_001291746.2(REL):c.154-10C>G	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3152886	NM_001291746.2(REL):c.157A>G (p.Met53Val)	REL (M53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2057899	NM_001291746.2(REL):c.171A>G (p.Gly57=)	REL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2601587	NM_001291746.2(REL):c.176G>C (p.Gly59Ala)	REL (G59A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1975798	NM_001291746.2(REL):c.183G>A (p.Val61=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871671	NM_001291746.2(REL):c.192A>C (p.Thr64=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783974	NM_001291746.2(REL):c.192A>G (p.Thr64=)	REL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1976083	NM_001291746.2(REL):c.258C>T (p.Asp86=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3152887	NM_001291746.2(REL):c.281G>A (p.Gly94Glu)	REL (G94E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1971208	NM_001291746.2(REL):c.289C>T (p.Arg97Cys)	REL (R97C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720753	NM_001291746.2(REL):c.297T>A (p.Pro99=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804420	NM_001291746.2(REL):c.302+8C>A	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2696894	NM_001291746.2(REL):c.302+19A>G	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864614	NM_001291746.2(REL):c.303-19A>T	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880860	NM_001291746.2(REL):c.303-9dup	REL	Duplication (intron variant)	not provided	GBenign
Select item 2807915	NM_001291746.2(REL):c.303-13T>C	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779167	NM_001291746.2(REL):c.303-6T>C	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697521	NM_001291746.2(REL):c.303-4C>T	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1985090	NM_001291746.2(REL):c.303-3T>C	REL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2427933	NM_001291746.2(REL):c.313T>C (p.Leu105=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127653	NM_001291746.2(REL):c.323G>A (p.Arg108Gln)	REL (R108Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775621	NM_001291746.2(REL):c.330G>T (p.Val110=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707505	NM_001291746.2(REL):c.345A>G (p.Val115=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1975311	NM_001291746.2(REL):c.392A>G (p.Asn131Ser)	REL (N131S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102071	NM_001291746.2(REL):c.394+3A>G	REL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2823839	NM_001291746.2(REL):c.394+8T>C	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2129976	NM_001291746.2(REL):c.394+20T>G	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973691	NM_001291746.2(REL):c.395-19A>T	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971781	NM_001291746.2(REL):c.395-9dup	REL	Duplication (intron variant)	not provided	GBenign
Select item 1971667	NM_001291746.2(REL):c.395-9del	REL	Deletion (intron variant)	not provided	GBenign
Select item 1971549	NM_001291746.2(REL):c.395-18T>A	REL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2099051	NM_001291746.2(REL):c.395-15T>C	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327626	NM_001291746.2(REL):c.395-1G>A	REL	Single nucleotide variant (splice acceptor variant)	Immunodeficiency 92	GPathogenic
Select item 2904275	NM_001291746.2(REL):c.435C>T (p.Leu145=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2740914	NM_001291746.2(REL):c.475G>A (p.Glu159Lys)	REL (E159K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178806	NM_001291746.2(REL):c.491C>T (p.Thr164Met)	REL (T164M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181984	NM_001291746.2(REL):c.492G>A (p.Thr164=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747289	NM_001291746.2(REL):c.498T>C (p.Ala166=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088594	NM_001291746.2(REL):c.513C>T (p.Val171=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868680	NM_001291746.2(REL):c.516G>A (p.Ser172=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003937	NM_001291746.2(REL):c.528T>C (p.Tyr176=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1327625	NM_001291746.2(REL):c.535+1G>A	REL	Single nucleotide variant (splice donor variant)	Immunodeficiency 92	GPathogenic
Select item 2111844	NM_001291746.2(REL):c.539C>T (p.Ala180Val)	REL (A180V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777772	NM_001291746.2(REL):c.555A>G (p.Glu185=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2629360	NM_001291746.2(REL):c.589A>G (p.Ser197Gly)	REL (S197G)	Single nucleotide variant (missense variant)	REL-related disorder	GUncertain significance
Select item 2608516	NM_001291746.2(REL):c.604G>A (p.Asp202Asn)	REL (D202N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2006636	NM_001291746.2(REL):c.618A>G (p.Leu206=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167041	NM_001291746.2(REL):c.640+2TATT[2]	REL	Microsatellite (splice donor variant)	not provided	GLikely benign
Select item 2779409	NM_001291746.2(REL):c.640+13T>G	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2035094	NM_001291746.2(REL):c.641-17G>T	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3256112	NM_001291746.2(REL):c.659T>C (p.Phe220Ser)	REL (F220S)	Single nucleotide variant (missense variant)	Immunodeficiency 92	GUncertain significance
Select item 2083888	NM_001291746.2(REL):c.670G>A (p.Asp224Asn)	REL (D224N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2769080	NM_001291746.2(REL):c.684A>G (p.Lys228=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876273	NM_001291746.2(REL):c.711C>T (p.His237=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2486343	NM_001291746.2(REL):c.713G>A (p.Arg238His)	REL (R238H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2013200	NM_001291746.2(REL):c.754G>A (p.Ala252Thr)	REL (A252T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2372590	NM_001291746.2(REL):c.766C>T (p.Pro256Ser)	REL (P256S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2176381	NM_001291746.2(REL):c.767C>A (p.Pro256His)	REL (P256H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873106	NM_001291746.2(REL):c.768C>T (p.Pro256=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124297	NM_001291746.2(REL):c.789G>A (p.Leu263=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898560	NM_001291746.2(REL):c.804C>T (p.Asp268=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788164	NM_001291746.2(REL):c.807G>A (p.Gln269=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2144759	NM_001291746.2(REL):c.834A>G (p.Arg278=)	REL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2868755	NM_001291746.2(REL):c.853+8A>G	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811738	NM_001291746.2(REL):c.853+9T>C	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2107454	NM_001291746.2(REL):c.853+19_853+20delinsGG	REL	Indel (intron variant)	not provided	GUncertain significance
Select item 2851461	NM_001291746.2(REL):c.854-12C>T	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818561	NM_001291746.2(REL):c.854-8del	REL	Deletion (intron variant)	not provided	GLikely benign
Select item 2818562	NM_001291746.2(REL):c.854-6A>T	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2148348	NM_001291746.2(REL):c.861C>T (p.Tyr287=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905257	NM_001291746.2(REL):c.879A>G (p.Lys293=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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