29511[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 154635	GRCh38/hg38 17q25.3(chr17:81145383-81251829)x3	AATK, CEP131 +12 more	Copy number gain	See cases	GBenign
Select item 3142568	NM_014984.4(CEP131):c.3181C>T (p.Arg1061Trp)	CEP131 (R1061W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142566	NM_014984.4(CEP131):c.3131A>C (p.Lys1044Thr)	CEP131 (K1008T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299192	NM_014984.4(CEP131):c.3131A>G (p.Lys1044Arg)	CEP131 (K1008R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547854	NM_014984.4(CEP131):c.3103C>T (p.Arg1035Trp)	CEP131 (R1035W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545705	NM_014984.4(CEP131):c.3093G>C (p.Glu1031Asp)	CEP131 (E1034D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610636	NM_014984.4(CEP131):c.3074G>A (p.Arg1025His)	CEP131 (R992H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208210	NM_014984.4(CEP131):c.3073C>T (p.Arg1025Cys)	CEP131 (R989C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475454	NM_014984.4(CEP131):c.3070G>A (p.Ala1024Thr)	CEP131 (A1024T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142565	NM_014984.4(CEP131):c.3062C>T (p.Thr1021Met)	CEP131 (T985M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142564	NM_014984.4(CEP131):c.2992C>A (p.Arg998Ser)	CEP131 (R965S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291561	NM_014984.4(CEP131):c.2977C>G (p.Leu993Val)	CEP131 (L957V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620690	NM_014984.4(CEP131):c.2974A>G (p.Asn992Asp)	CEP131 (N959D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648435	NM_014984.4(CEP131):c.2949C>T (p.Asn983=)	CEP131	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2512794	NM_014984.4(CEP131):c.2949C>A (p.Asn983Lys)	CEP131 (N983K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204158	NM_014984.4(CEP131):c.2936C>T (p.Ala979Val)	CEP131 (A946V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207708	NM_014984.4(CEP131):c.2920C>T (p.Arg974Trp)	CEP131 (R938W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142563	NM_014984.4(CEP131):c.2908C>T (p.Arg970Trp)	CEP131 (R934W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266003	NM_014984.4(CEP131):c.2875G>A (p.Glu959Lys)	CEP131 (E962K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566735	NM_014984.4(CEP131):c.2864T>C (p.Leu955Pro)	CEP131 (L955P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381971	NM_014984.4(CEP131):c.2846C>T (p.Ser949Leu)	CEP131 (S916L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215809	NM_014984.4(CEP131):c.2824C>T (p.Arg942Trp)	CEP131 (R909W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475102	NM_014984.4(CEP131):c.2782G>A (p.Asp928Asn)	CEP131 (D928N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275623	NM_014984.4(CEP131):c.2773C>T (p.Arg925Cys)	CEP131 (R889C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557786	NM_014984.4(CEP131):c.2764C>T (p.Arg922Cys)	CEP131 (R886C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266002	NM_014984.4(CEP131):c.2668C>T (p.Arg890Trp)	CEP131 (R890W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513190	NM_014984.4(CEP131):c.2641C>T (p.Arg881Trp)	CEP131 (R845W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249046	NM_014984.4(CEP131):c.2561C>T (p.Thr854Ile)	CEP131 (T854I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142562	NM_014984.4(CEP131):c.2537G>T (p.Arg846Leu)	CEP131 (R813L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142561	NM_014984.4(CEP131):c.2537G>A (p.Arg846His)	CEP131 (R849H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520323	NM_014984.4(CEP131):c.2519G>A (p.Gly840Asp)	CEP131 (G807D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208665	NM_014984.4(CEP131):c.2444T>C (p.Leu815Pro)	CEP131 (L779P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613143	NM_014984.4(CEP131):c.2408G>A (p.Arg803Gln)	CEP131 (R806Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512196	NM_014984.4(CEP131):c.2375G>A (p.Arg792Gln)	CEP131 (R792Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515923	NM_014984.4(CEP131):c.2369G>A (p.Arg790Gln)	CEP131 (R790Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142560	NM_014984.4(CEP131):c.2368C>T (p.Arg790Trp)	CEP131 (R790W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142559	NM_014984.4(CEP131):c.2354C>T (p.Ala785Val)	CEP131 (A788V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142558	NM_014984.4(CEP131):c.2320C>T (p.Arg774Trp)	CEP131 (R774W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142557	NM_014984.4(CEP131):c.2302C>G (p.Arg768Gly)	CEP131 (R768G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266001	NM_014984.4(CEP131):c.2231G>A (p.Arg744His)	CEP131 (R744H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142556	NM_014984.4(CEP131):c.2219G>A (p.Arg740Gln)	CEP131 (R740Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142555	NM_014984.4(CEP131):c.2195C>T (p.Ala732Val)	CEP131 (A732V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648436	NM_014984.4(CEP131):c.2174G>T (p.Arg725Met)	CEP131 (R725M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2265056	NM_014984.4(CEP131):c.2136C>G (p.Ile712Met)	CEP131 (I715M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265999	NM_014984.4(CEP131):c.2129C>T (p.Pro710Leu)	CEP131 (P713L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308061	NM_014984.4(CEP131):c.2095A>G (p.Lys699Glu)	CEP131 (K699E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391059	NM_014984.4(CEP131):c.2063G>A (p.Arg688His)	CEP131 (R691H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364611	NM_014984.4(CEP131):c.2035G>A (p.Glu679Lys)	CEP131 (E679K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595761	NM_014984.4(CEP131):c.1991C>T (p.Ala664Val)	CEP131 (A667V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404913	NM_014984.4(CEP131):c.1987G>A (p.Val663Met)	CEP131 (V663M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387744	NM_014984.4(CEP131):c.1951G>A (p.Glu651Lys)	CEP131 (E651K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378642	NM_014984.4(CEP131):c.1936G>A (p.Glu646Lys)	CEP131 (E646K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142554	NM_014984.4(CEP131):c.1917G>T (p.Lys639Asn)	CEP131 (K642N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648437	NM_014984.4(CEP131):c.1917G>A (p.Lys639=)	CEP131	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3142553	NM_014984.4(CEP131):c.1876C>T (p.Arg626Trp)	CEP131 (R629W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292914	NM_014984.4(CEP131):c.1859A>G (p.Tyr620Cys)	CEP131 (Y620C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314793	NM_014984.4(CEP131):c.1855C>T (p.His619Tyr)	CEP131 (H619Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2648438	NM_014984.4(CEP131):c.1831C>T (p.Arg611Trp)	CEP131 (R611W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2406333	NM_014984.4(CEP131):c.1793C>T (p.Thr598Met)	CEP131 (T601M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570081	NM_014984.4(CEP131):c.1769C>T (p.Ala590Val)	CEP131 (A590V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561768	NM_014984.4(CEP131):c.1762C>G (p.Gln588Glu)	CEP131 (Q588E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304142	NM_014984.4(CEP131):c.1748C>A (p.Ala583Asp)	CEP131 (A583D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547002	NM_014984.4(CEP131):c.1695G>C (p.Glu565Asp)	CEP131 (E565D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142552	NM_014984.4(CEP131):c.1693G>A (p.Glu565Lys)	CEP131 (E565K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142551	NM_014984.4(CEP131):c.1653G>C (p.Trp551Cys)	CEP131 (W554C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142550	NM_014984.4(CEP131):c.1640A>G (p.Gln547Arg)	CEP131 (Q547R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207680	NM_014984.4(CEP131):c.1603G>A (p.Glu535Lys)	CEP131 (E535K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270483	NM_014984.4(CEP131):c.1537G>A (p.Glu513Lys)	CEP131 (E513K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142549	NM_014984.4(CEP131):c.1522C>T (p.Leu508Phe)	CEP131 (L508F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142548	NM_014984.4(CEP131):c.1493C>G (p.Thr498Arg)	CEP131 (T498R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142547	NM_014984.4(CEP131):c.1480G>A (p.Ala494Thr)	CEP131 (A497T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142546	NM_014984.4(CEP131):c.1462G>A (p.Ala488Thr)	CEP131 (A488T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2648439	NM_014984.4(CEP131):c.1419G>A (p.Val473=)	CEP131	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2372845	NM_014984.4(CEP131):c.1412C>T (p.Pro471Leu)	CEP131 (P471L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282547	NM_014984.4(CEP131):c.1391T>C (p.Leu464Pro)	CEP131 (L464P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142545	NM_014984.4(CEP131):c.1337C>T (p.Pro446Leu)	CEP131 (P446L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142544	NM_014984.4(CEP131):c.1334C>A (p.Ala445Asp)	CEP131 (A445D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340233	NM_014984.4(CEP131):c.1332G>A (p.Met444Ile)	CEP131 (M444I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266010	NM_014984.4(CEP131):c.1310C>T (p.Ala437Val)	CEP131 (A437V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142543	NM_014984.4(CEP131):c.1283C>T (p.Thr428Met)	CEP131 (T428M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2549115	NM_014984.4(CEP131):c.1219G>A (p.Gly407Arg)	CEP131 (G407R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366133	NM_014984.4(CEP131):c.1093C>T (p.Pro365Ser)	CEP131 (P365S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2383150	NM_014984.4(CEP131):c.1075C>T (p.Arg359Cys)	CEP131 (R359C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402362	NM_014984.4(CEP131):c.1072G>A (p.Glu358Lys)	CEP131 (E358K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274791	NM_014984.4(CEP131):c.1033C>G (p.Gln345Glu)	CEP131 (Q345E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481169	NM_014984.4(CEP131):c.997C>G (p.Arg333Gly)	CEP131 (R333G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569971	NM_014984.4(CEP131):c.913C>T (p.Arg305Trp)	CEP131 (R305W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266009	NM_014984.4(CEP131):c.874C>G (p.Arg292Gly)	CEP131 (R292G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514699	NM_014984.4(CEP131):c.859G>A (p.Gly287Arg)	CEP131 (G287R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2480282	NM_014984.4(CEP131):c.811G>C (p.Ala271Pro)	CEP131 (A271P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282162	NM_014984.4(CEP131):c.778G>A (p.Glu260Lys)	CEP131 (E260K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282161	NM_014984.4(CEP131):c.775G>A (p.Glu259Lys)	CEP131 (E259K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142573	NM_014984.4(CEP131):c.758G>A (p.Arg253Gln)	CEP131 (R253Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142572	NM_014984.4(CEP131):c.727A>C (p.Asn243His)	CEP131 (N243H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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