ClinVar for Gene (Select 4685) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3180304	NM_004540.5(NCAM2):c.47G>A (p.Ser16Asn)	NCAM2 (S16N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180297	NM_004540.5(NCAM2):c.452A>G (p.His151Arg)	NCAM2 (H176R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180292	NM_004540.5(NCAM2):c.361G>A (p.Val121Ile)	NCAM2 (V121I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180290	NM_004540.5(NCAM2):c.2476G>A (p.Asp826Asn)	NCAM2 (D851N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180257	NM_004540.5(NCAM2):c.1820A>G (p.Lys607Arg)	NCAM2 (K465R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180253	NM_004540.5(NCAM2):c.1819A>G (p.Lys607Glu)	NCAM2 (K465E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180243	NM_004540.5(NCAM2):c.1643A>G (p.His548Arg)	NCAM2 (H406R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180239	NM_004540.5(NCAM2):c.1504G>T (p.Val502Leu)	NCAM2 (V360L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180238	NM_004540.5(NCAM2):c.1441A>T (p.Ile481Leu)	NCAM2 (I481L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148897	GRCh37/hg19 21q21.1-21.2(chr21:21927356-24277822)x1	NCAM2	Copy number loss	not provided	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3058984	NM_004540.5(NCAM2):c.1049T>C (p.Leu350Pro)	NCAM2 (L208P +2 more)	Single nucleotide variant (missense variant)	NCAM2-related condition	GBenign
Select item 3058963	NM_004540.5(NCAM2):c.2157A>G (p.Thr719=)	NCAM2	Single nucleotide variant (synonymous variant)	NCAM2-related condition	GBenign
Select item 3056255	NM_004540.5(NCAM2):c.2078-9C>A	NCAM2	Single nucleotide variant (intron variant)	NCAM2-related condition	GLikely benign
Select item 3050462	NM_004540.5(NCAM2):c.504C>T (p.Asn168=)	NCAM2	Single nucleotide variant (synonymous variant)	NCAM2-related condition	GBenign
Select item 3049716	NM_004540.5(NCAM2):c.1957T>C (p.Leu653=)	NCAM2	Single nucleotide variant (synonymous variant)	NCAM2-related condition	GBenign
Select item 3044809	NM_004540.5(NCAM2):c.130+6T>C	NCAM2	Single nucleotide variant (intron variant)	NCAM2-related condition	GBenign
Select item 3043466	NM_004540.5(NCAM2):c.56-69935G>A	NCAM2 (E28K)	Single nucleotide variant (missense variant +1 more)	NCAM2-related condition	GLikely benign
Select item 3042988	NM_004540.5(NCAM2):c.246T>C (p.Asn82=)	NCAM2	Single nucleotide variant (synonymous variant +1 more)	NCAM2-related condition	GLikely benign
Select item 3041245	NM_004540.5(NCAM2):c.1039G>A (p.Asp347Asn)	NCAM2 (D205N +2 more)	Single nucleotide variant (missense variant)	NCAM2-related condition	GBenign
Select item 3039447	NM_004540.5(NCAM2):c.56-69974C>A	NCAM2 (H15N)	Single nucleotide variant (missense variant +1 more)	NCAM2-related condition	GLikely benign
Select item 3038921	NM_004540.5(NCAM2):c.1422T>C (p.Asn474=)	NCAM2	Single nucleotide variant (synonymous variant)	NCAM2-related condition	GBenign
Select item 3037657	NM_004540.5(NCAM2):c.2485C>G (p.Gln829Glu)	NCAM2 (Q687E +3 more)	Single nucleotide variant (missense variant)	NCAM2-related condition	GLikely benign
Select item 3035047	NM_004540.5(NCAM2):c.48C>T (p.Ser16=)	NCAM2	Single nucleotide variant (synonymous variant +1 more)	NCAM2-related condition	GLikely benign
Select item 2685657	GRCh37/hg19 21q21.1(chr21:22512344-22865665)x1	NCAM2	Copy number loss	not provided	GUncertain significance
Select item 2685656	GRCh37/hg19 21q21.1-21.3(chr21:21596314-26986899)x1	MIR155, MRPL39 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684913	GRCh37/hg19 21q21.1-21.3(chr21:21437700-30474088)x3	ADAMTS1, ADAMTS5 +14 more	Copy number gain	not provided	GPathogenic
Select item 2684912	GRCh37/hg19 21q21.1-22.11(chr21:20408138-32852758)x3	ADAMTS1, ADAMTS5 +52 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 2622524	NM_004540.5(NCAM2):c.2432A>C (p.Lys811Thr)	NCAM2 (K823T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610352	NM_004540.5(NCAM2):c.434C>T (p.Ala145Val)	NCAM2 (A170V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2603791	NM_004540.5(NCAM2):c.818A>G (p.Asn273Ser)	NCAM2 (N298S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598924	NM_004540.5(NCAM2):c.485G>A (p.Arg162Gln)	NCAM2 (R162Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553996	NM_004540.5(NCAM2):c.2257C>A (p.Leu753Ile)	NCAM2 (L611I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550578	NM_004540.5(NCAM2):c.2422G>A (p.Glu808Lys)	NCAM2 (E808K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547431	NM_004540.5(NCAM2):c.205G>C (p.Val69Leu)	NCAM2 (V69L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530714	NM_004540.5(NCAM2):c.607G>A (p.Val203Ile)	NCAM2 (V61I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530076	NM_004540.5(NCAM2):c.1903A>G (p.Lys635Glu)	NCAM2 (K493E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515455	NM_004540.5(NCAM2):c.482A>G (p.Asn161Ser)	NCAM2 (N186S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509479	NM_004540.5(NCAM2):c.1072G>A (p.Gly358Arg)	NCAM2 (G358R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484909	NM_004540.5(NCAM2):c.1644T>G (p.His548Gln)	NCAM2 (H573Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473980	NM_004540.5(NCAM2):c.2306T>G (p.Ile769Arg)	NCAM2 (I794R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462712	NM_004540.5(NCAM2):c.2256A>C (p.Glu752Asp)	NCAM2 (E752D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458867	NM_004540.5(NCAM2):c.971C>T (p.Ala324Val)	NCAM2 (A349V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396906	NM_004540.5(NCAM2):c.2321C>G (p.Thr774Arg)	NCAM2 (T632R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384837	NM_004540.5(NCAM2):c.2241T>G (p.Ser747Arg)	NCAM2 (S605R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377644	NM_004540.5(NCAM2):c.1058G>A (p.Arg353His)	NCAM2 (R211H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367772	NM_004540.5(NCAM2):c.721G>A (p.Ala241Thr)	NCAM2 (A266T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2339106	NM_004540.5(NCAM2):c.1663G>A (p.Val555Ile)	NCAM2 (V413I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324023	NM_004540.5(NCAM2):c.763G>A (p.Glu255Lys)	NCAM2 (E113K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319605	NM_004540.5(NCAM2):c.505A>G (p.Asn169Asp)	NCAM2 (N194D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315717	NM_004540.5(NCAM2):c.472A>G (p.Ile158Val)	NCAM2 (I158V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314415	NM_004540.5(NCAM2):c.1795A>G (p.Ile599Val)	NCAM2 (I457V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297942	NM_004540.5(NCAM2):c.2333G>T (p.Arg778Ile)	NCAM2 (R778I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284593	NM_004540.5(NCAM2):c.2431A>G (p.Lys811Glu)	NCAM2 (K823E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283355	NM_004540.5(NCAM2):c.1192G>A (p.Glu398Lys)	NCAM2 (E256K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279133	NM_004540.5(NCAM2):c.802G>A (p.Val268Ile)	NCAM2 (V126I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266637	NM_004540.5(NCAM2):c.772A>T (p.Ile258Leu)	NCAM2 (I283L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260195	NM_004540.5(NCAM2):c.1358G>A (p.Ser453Asn)	NCAM2 (S311N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254872	NM_004540.5(NCAM2):c.1981G>T (p.Gly661Trp)	NCAM2 (G661W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254277	NM_004540.5(NCAM2):c.1911C>A (p.Asp637Glu)	NCAM2 (D637E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240061	NM_004540.5(NCAM2):c.436G>A (p.Val146Ile)	NCAM2 (V146I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229918	NM_004540.5(NCAM2):c.728C>T (p.Ser243Phe)	NCAM2 (S268F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226705	NM_004540.5(NCAM2):c.538G>T (p.Asp180Tyr)	NCAM2 (D180Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225747	NM_004540.5(NCAM2):c.574G>A (p.Ala192Thr)	NCAM2 (A217T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808220	GRCh37/hg19 21q21.1-21.2(chr21:22789290-24987949)x1	NCAM2	Copy number loss	not provided	GUncertain significance
Select item 1807985	GRCh37/hg19 21q21.1(chr21:19472236-22485199)x1	CHODL, NCAM2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1803737	NM_004540.5(NCAM2):c.365C>T (p.Ser122Phe)	NCAM2 (S122F +1 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 1708465	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29046428)x3	MIRLET7C, MRPL39 +23 more	Copy number gain	See cases	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	DOP1B, DSCAM +217 more	Copy number gain	Complete trisomy 21 syndrome	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	FAM3B, FTCD +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KRTAP13-1, KRTAP13-2 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526703	GRCh37/hg19 21q11.2-21.3(chr21:15006457-28820583)	ADAMTS1, ADAMTS5 +23 more	Copy number gain	not specified	GPathogenic
Select item 1526702	GRCh37/hg19 21q11.2-21.3(chr21:15006457-27430623)	APP, ATP5PF +20 more	Copy number gain	not specified	GPathogenic
Select item 1526701	GRCh37/hg19 21q11.2-21.2(chr21:15006457-26760450)	BTG3, C21orf91 +14 more	Copy number gain	not specified	GPathogenic
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1340057	GRCh37/hg19 21q21.1-21.2(chr21:22483884-24243920)x1	NCAM2	Copy number loss	not provided	GUncertain significance
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	ABCG1, ADAMTS1 +220 more	Copy number gain	See cases	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 980225	GRCh37/hg19 21q21.1-21.2(chr21:21315654-24758721)x1	NCAM2	Copy number loss	not provided	GUncertain significance
Select item 980223	GRCh37/hg19 21q21.1(chr21:21547660-22421168)x1	NCAM2	Copy number loss	not provided	GUncertain significance
Select item 979747	GRCh37/hg19 21q21.1(chr21:22206704-22504398)x3	NCAM2	Copy number gain	not provided	GLikely benign
Select item 816150	GRCh37/hg19 21q21.1(chr21:22751212-23009366)x3	NCAM2	Copy number gain	not provided	GUncertain significance
Select item 816149	GRCh37/hg19 21q21.1(chr21:22041946-22396557)x3	NCAM2	Copy number gain	not provided	GUncertain significance
Select item 816143	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29325923)x1	NCAM2, ADAMTS1 +23 more	Copy number loss	not provided	GPathogenic
Select item 816142	GRCh37/hg19 21q11.2-21.2(chr21:15006457-24522577)x1	BTG3, MIR125B2 +14 more	Copy number loss	not provided	GPathogenic
Select item 769118	NM_004540.5(NCAM2):c.2078-10_2078-9del	NCAM2	Deletion (intron variant)	not provided	GLikely benign
Select item 710284	NM_004540.5(NCAM2):c.2078-4_2078-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCAM2	Insertion (intron variant)	not provided	GBenign
Select item 688737	GRCh37/hg19 21q21.1(chr21:22828560-23175982)x3	NCAM2	Copy number gain	not provided	GUncertain significance
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 635905	Single allele	ADAMTS1, ADAMTS5 +23 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 625662	GRCh37/hg19 21p11.1-q21.2(chr21:10944001-25730963)	BAGE2, BAGE3 +17 more	Copy number gain	not provided	GPathogenic
Select item 564678	GRCh37/hg19 21q11.2-21.2(chr21:15006457-25292671)x1	MIR99A, CHODL +14 more	Copy number loss	not provided	GPathogenic
Select item 564675	GRCh37/hg19 21q21.1(chr21:19480521-23909274)x3	TMPRSS15, CHODL +1 more	Copy number gain	not provided	GUncertain significance
Select item 564673	GRCh37/hg19 21q21.1(chr21:21068283-22747570)x3	NCAM2	Copy number gain	not provided	GUncertain significance
Select item 564671	GRCh37/hg19 21q21.1(chr21:22162495-23773351)x3	NCAM2	Copy number gain	not provided	GUncertain significance
Select item 564663	GRCh37/hg19 21q21.1(chr21:22589601-23392840)x1	NCAM2	Copy number loss	not provided	GUncertain significance
Select item 549650	NC_000021.8:g.22418118_22450219del32102	NCAM2	Deletion	Primary amenorrhea	GLikely benign
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443575	GRCh37/hg19 21q21.1(chr21:17049083-22765034)x3	BTG3, C21orf91 +8 more	Copy number gain	See cases	GUncertain significance

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