23065[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 59922	GRCh38/hg38 1p36.13(chr1:19093306-20063342)x1	AKR7A2, AKR7A3 +57 more	Copy number loss	See cases	GPathogenic
Select item 152815	GRCh38/hg38 1p36.13(chr1:19169253-19797307)x3	AKR7A2, AKR7A3 +39 more	Copy number gain	See cases	GLikely benign
Select item 152221	GRCh38/hg38 1p36.13(chr1:19169253-19415934)x1	AKR7A2, AKR7A3 +18 more	Copy number loss	See cases	GUncertain significance
Select item 1374892	NM_015047.3(EMC1):c.2978G>A (p.Arg993Gln)	EMC1, EMC1-AS1 (R971Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 935713	NM_015047.3(EMC1):c.2977C>T (p.Arg993Ter)	EMC1, EMC1-AS1 (R992* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1536876	NM_015047.3(EMC1):c.2973C>G (p.Ala991=)	EMC1-AS1, EMC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845450	NM_015047.3(EMC1):c.2968dup (p.Arg990fs)	EMC1, EMC1-AS1 (R968fs +4 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1525107	NM_015047.3(EMC1):c.2969G>A (p.Arg990Gln)	EMC1-AS1, EMC1 (R968Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367729	NM_015047.3(EMC1):c.2968C>T (p.Arg990Trp)	EMC1, EMC1-AS1 (R968W +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1085267	NM_015047.3(EMC1):c.2968C>A (p.Arg990=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1603332	NM_015047.3(EMC1):c.2967T>C (p.Asn989=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2504057	NM_015047.3(EMC1):c.2964G>C (p.Leu988=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2974133	NM_015047.3(EMC1):c.2958G>A (p.Lys986=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 817005	NM_015047.3(EMC1):c.2954_2955dup (p.Lys986Ter)	EMC1, EMC1-AS1 (K964* +4 more)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 1544323	NM_015047.3(EMC1):c.2955G>A (p.Val985=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791958	NM_015047.3(EMC1):c.2949A>G (p.Ala983=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1945433	NM_015047.3(EMC1):c.2940G>A (p.Lys980=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663605	NM_015047.3(EMC1):c.2933_2935dup (p.Ile978_Thr979insIle)	EMC1, EMC1-AS1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1720876	NM_015047.3(EMC1):c.2936C>T (p.Thr979Ile)	EMC1, EMC1-AS1 (T957I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 717470	NM_015047.3(EMC1):c.2928C>A (p.Thr976=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1156286	NM_015047.3(EMC1):c.2913C>T (p.Gly971=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818851	NM_015047.3(EMC1):c.2912G>T (p.Gly971Val)	EMC1, EMC1-AS1 (G949V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1035673	NM_015047.3(EMC1):c.2909T>C (p.Phe970Ser)	EMC1, EMC1-AS1 (F948S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 860844	NM_015047.3(EMC1):c.2902G>A (p.Val968Ile)	EMC1, EMC1-AS1 (V967I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1575729	NM_015047.3(EMC1):c.2901C>T (p.Ser967=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988839	NM_015047.3(EMC1):c.2900G>C (p.Ser967Thr)	EMC1, EMC1-AS1 (S945T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1538481	NM_015047.3(EMC1):c.2889G>A (p.Val963=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1415703	NM_015047.3(EMC1):c.2887G>A (p.Val963Met)	EMC1, EMC1-AS1 (V941M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 774792	NM_015047.3(EMC1):c.2886C>T (p.Tyr962=)	EMC1-AS1, EMC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2504725	NM_015047.3(EMC1):c.2872_2877dup (p.Asp959_Tyr960insAspAsp)	EMC1, EMC1-AS1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1154805	NM_015047.3(EMC1):c.2862C>T (p.Asp954=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443546	NM_015047.3(EMC1):c.2861del (p.Asp954fs)	EMC1, EMC1-AS1 (D932fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1472149	NM_015047.3(EMC1):c.2858T>A (p.Phe953Tyr)	EMC1, EMC1-AS1 (F952Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 691806	NM_015047.3(EMC1):c.2858T>C (p.Phe953Ser)	EMC1, EMC1-AS1 (F952S +2 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GConflicting classifications of pathogenicity
Select item 1464830	NM_015047.3(EMC1):c.2857T>C (p.Phe953Leu)	EMC1, EMC1-AS1 (F931L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378507	NM_015047.3(EMC1):c.2852_2855del (p.Lys951fs)	EMC1, EMC1-AS1 (K950fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 742945	NM_015047.3(EMC1):c.2850C>A (p.Ser950=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 968013	NM_015047.3(EMC1):c.2840T>A (p.Val947Asp)	EMC1, EMC1-AS1 (V946D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 967839	NM_015047.3(EMC1):c.2839G>A (p.Val947Ile)	EMC1, EMC1-AS1 (V925I +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1476375	NM_015047.3(EMC1):c.2837G>A (p.Arg946Gln)	EMC1, EMC1-AS1 (R945Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 840139	NM_015047.3(EMC1):c.2834C>T (p.Thr945Ile)	EMC1, EMC1-AS1 (T944I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701569	NM_015047.3(EMC1):c.2833A>T (p.Thr945Ser)	EMC1, EMC1-AS1 (T947S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2008995	NM_015047.3(EMC1):c.2827del (p.Tyr943fs)	EMC1, EMC1-AS1 (Y943fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 717671	NM_015047.3(EMC1):c.2826T>A (p.Ile942=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1450411	NM_015047.3(EMC1):c.2825T>C (p.Ile942Thr)	EMC1, EMC1-AS1 (I944T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705065	NM_015047.3(EMC1):c.2818T>C (p.Leu940=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1384862	NM_015047.3(EMC1):c.2813A>G (p.Tyr938Cys)	EMC1, EMC1-AS1 (Y916C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133519	NM_015047.3(EMC1):c.2804T>C (p.Val935Ala)	EMC1, EMC1-AS1 (V935A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1143441	NM_015047.3(EMC1):c.2803-4C>T	EMC1, EMC1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1567231	NM_015047.3(EMC1):c.2803-8C>T	EMC1, EMC1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551723	NM_015047.3(EMC1):c.2803-13A>G	EMC1, EMC1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810605	NM_015047.3(EMC1):c.2802+20G>A	EMC1, EMC1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1121275	NM_015047.3(EMC1):c.2802+13del	EMC1, EMC1-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2749211	NM_015047.3(EMC1):c.2802+7A>G	EMC1, EMC1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1020299	NM_015047.3(EMC1):c.2802+6T>C	EMC1-AS1, EMC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2626938	NM_015047.3(EMC1):c.2802+2T>C	EMC1, EMC1-AS1	Single nucleotide variant (splice donor variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation;	GLikely pathogenic
Select item 2131157	NM_015047.3(EMC1):c.2802+1del	EMC1, EMC1-AS1	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2813153	NM_015047.3(EMC1):c.2794A>G (p.Thr932Ala)	EMC1, EMC1-AS1 (T934A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843867	NM_015047.3(EMC1):c.2789A>G (p.Glu930Gly)	EMC1, EMC1-AS1 (E933G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2275634	NM_015047.3(EMC1):c.2789A>C (p.Glu930Ala)	EMC1, EMC1-AS1 (E908A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1994312	NM_015047.3(EMC1):c.2781G>T (p.Ser927=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1486699	NM_015047.3(EMC1):c.2781G>A (p.Ser927=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1058651	NM_015047.3(EMC1):c.2780C>T (p.Ser927Leu)	EMC1, EMC1-AS1 (S905L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1437438	NM_015047.3(EMC1):c.2773G>A (p.Ala925Thr)	EMC1-AS1, EMC1 (A927T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1156520	NM_015047.3(EMC1):c.2766C>T (p.Ile922=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1714212	NM_015047.3(EMC1):c.2765T>C (p.Ile922Thr)	EMC1, EMC1-AS1 (I900T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713651	NM_015047.3(EMC1):c.2762G>T (p.Gly921Val)	EMC1, EMC1-AS1 (G899V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144777	NM_015047.3(EMC1):c.2759G>A (p.Arg920Gln)	EMC1, EMC1-AS1 (R922Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1668906	NM_015047.3(EMC1):c.2758C>A (p.Arg920=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1405730	NM_015047.3(EMC1):c.2758C>T (p.Arg920Ter)	EMC1, EMC1-AS1 (R922* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1497288	NM_015047.3(EMC1):c.2753G>A (p.Arg918Gln)	EMC1, EMC1-AS1 (R917Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 843993	NM_015047.3(EMC1):c.2752C>G (p.Arg918Gly)	EMC1, EMC1-AS1 (R896G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 961493	NM_015047.3(EMC1):c.2749dup (p.Ser917fs)	EMC1, EMC1-AS1 (S916fs +4 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1024226	NM_015047.3(EMC1):c.2749T>A (p.Ser917Thr)	EMC1, EMC1-AS1 (S895T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1897372	NM_015047.3(EMC1):c.2748T>G (p.Val916=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1648834	NM_015047.3(EMC1):c.2745A>C (p.Thr915=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134427	NM_015047.3(EMC1):c.2741del (p.Gln914fs)	EMC1, EMC1-AS1 (Q913fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2865255	NM_015047.3(EMC1):c.2732A>G (p.Asn911Ser)	EMC1, EMC1-AS1 (N913S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058175	NM_015047.3(EMC1):c.2731A>C (p.Asn911His)	EMC1, EMC1-AS1 (N910H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1393769	NM_015047.3(EMC1):c.2731A>G (p.Asn911Asp)	EMC1, EMC1-AS1 (N910D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1652574	NM_015047.3(EMC1):c.2730C>T (p.Ile910=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2004475	NM_015047.3(EMC1):c.2729T>C (p.Ile910Thr)	EMC1, EMC1-AS1 (I910T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836976	NM_015047.3(EMC1):c.2723G>A (p.Arg908Gln)	EMC1, EMC1-AS1 (R886Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363846	NM_015047.3(EMC1):c.2722C>T (p.Arg908Ter)	EMC1, EMC1-AS1 (R886* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2826805	NM_015047.3(EMC1):c.2722C>A (p.Arg908=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1521333	NM_015047.3(EMC1):c.2716G>A (p.Ala906Thr)	EMC1, EMC1-AS1 (A905T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1137773	NM_015047.3(EMC1):c.2715C>T (p.His905=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 598641	NM_015047.3(EMC1):c.2712dup (p.His905fs)	EMC1, EMC1-AS1 (H904fs +2 more)	Duplication (frameshift variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more	GConflicting classifications of pathogenicity
Select item 1491658	NM_015047.3(EMC1):c.2709G>C (p.Gln903His)	EMC1-AS1, EMC1 (Q902H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965299	NM_015047.3(EMC1):c.2704G>A (p.Val902Ile)	EMC1, EMC1-AS1 (V901I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976934	NM_015047.3(EMC1):c.2700A>T (p.Pro900=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 742030	NM_015047.3(EMC1):c.2697T>C (p.Ser899=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1630771	NM_015047.3(EMC1):c.2691G>A (p.Pro897=)	EMC1, EMC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1428569	NM_015047.3(EMC1):c.2690C>T (p.Pro897Leu)	EMC1, EMC1-AS1 (P897L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050646	NM_015047.3(EMC1):c.2686dup (p.Ile896fs)	EMC1, EMC1-AS1 (I895fs +4 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1355547	NM_015047.3(EMC1):c.2674GAG[1] (p.Glu893del)	EMC1, EMC1-AS1 (E895del +4 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance

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