ClinVar for Gene (Select 63922) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267290	NM_022092.3(CHTF18):c.1727G>A (p.Arg576His)	CHTF18 (R576H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3267289	NM_022092.3(CHTF18):c.2914A>G (p.Arg972Gly)	CHTF18 (R972G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267288	NM_022092.3(CHTF18):c.647T>G (p.Leu216Arg)	CHTF18 (L216R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267287	NM_022092.3(CHTF18):c.1270G>T (p.Gly424Cys)	CHTF18 (G424C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267286	NM_022092.3(CHTF18):c.2350C>T (p.Arg784Cys)	CHTF18 (R784C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267285	NM_022092.3(CHTF18):c.1394C>G (p.Pro465Arg)	CHTF18 (P465R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267284	NM_022092.3(CHTF18):c.1832C>G (p.Pro611Arg)	CHTF18 (P611R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267283	NM_022092.3(CHTF18):c.908G>T (p.Cys303Phe)	CHTF18 (C303F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267282	NM_022092.3(CHTF18):c.793G>C (p.Ala265Pro)	CHTF18 (A265P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267281	NM_022092.3(CHTF18):c.628T>C (p.Trp210Arg)	CHTF18 (W210R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267280	NM_022092.3(CHTF18):c.355G>A (p.Glu119Lys)	CHTF18 (E119K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267279	NM_022092.3(CHTF18):c.1394C>T (p.Pro465Leu)	CHTF18 (P465L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267278	NM_022092.3(CHTF18):c.2666G>A (p.Arg889Gln)	CHTF18 (R889Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267277	NM_022092.3(CHTF18):c.2896C>T (p.Arg966Trp)	CHTF18 (R966W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267276	NM_022092.3(CHTF18):c.862C>G (p.Pro288Ala)	CHTF18 (P288A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267275	NM_022092.3(CHTF18):c.458A>G (p.Asp153Gly)	CHTF18 (D153G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267274	NM_022092.3(CHTF18):c.1361G>T (p.Arg454Leu)	CHTF18 (R454L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	ANTKMT, ARHGDIG +53 more	Deletion	not provided	GPathogenic
Select item 3243338	NC_000016.9:g.(?_396128)_(1204056_?)dup	ANTKMT, AXIN1 +34 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 3144853	NM_022092.3(CHTF18):c.908G>A (p.Cys303Tyr)	CHTF18 (C303Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144852	NM_022092.3(CHTF18):c.808C>T (p.Pro270Ser)	CHTF18 (P270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144851	NM_022092.3(CHTF18):c.7G>A (p.Asp3Asn)	CHTF18 (D3N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144850	NM_022092.3(CHTF18):c.796C>T (p.Pro266Ser)	CHTF18 (P266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144849	NM_022092.3(CHTF18):c.796C>A (p.Pro266Thr)	CHTF18 (P266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144848	NM_022092.3(CHTF18):c.776C>T (p.Ala259Val)	CHTF18 (A259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144847	NM_022092.3(CHTF18):c.521T>C (p.Leu174Ser)	CHTF18 (L174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144845	NM_022092.3(CHTF18):c.46C>A (p.His16Asn)	CHTF18 (H16N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144844	NM_022092.3(CHTF18):c.460G>C (p.Val154Leu)	CHTF18 (V154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144843	NM_022092.3(CHTF18):c.406C>T (p.Pro136Ser)	CHTF18 (P136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144842	NM_022092.3(CHTF18):c.386A>C (p.Asp129Ala)	CHTF18 (D129A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144841	NM_022092.3(CHTF18):c.348G>T (p.Glu116Asp)	CHTF18 (E116D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144839	NM_022092.3(CHTF18):c.285C>G (p.His95Gln)	CHTF18 (H95Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144838	NM_022092.3(CHTF18):c.2825G>A (p.Arg942Gln)	CHTF18 (R942Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144837	NM_022092.3(CHTF18):c.2788G>A (p.Ala930Thr)	CHTF18 (A930T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144836	NM_022092.3(CHTF18):c.2723G>A (p.Arg908Gln)	CHTF18 (R908Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144835	NM_022092.3(CHTF18):c.26G>A (p.Cys9Tyr)	CHTF18 (C9Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144834	NM_022092.3(CHTF18):c.2626G>A (p.Glu876Lys)	CHTF18 (E876K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144833	NM_022092.3(CHTF18):c.2594G>T (p.Ser865Ile)	CHTF18 (S865I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144832	NM_022092.3(CHTF18):c.2581C>T (p.Arg861Trp)	CHTF18 (R861W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144831	NM_022092.3(CHTF18):c.2567C>T (p.Ala856Val)	CHTF18 (A856V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144830	NM_022092.3(CHTF18):c.2537G>A (p.Arg846His)	CHTF18 (R846H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144829	NM_022092.3(CHTF18):c.2497C>T (p.Arg833Cys)	CHTF18 (R833C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144828	NM_022092.3(CHTF18):c.2393C>T (p.Ala798Val)	CHTF18 (A798V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144826	NM_022092.3(CHTF18):c.2243C>T (p.Thr748Met)	CHTF18 (T748M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144825	NM_022092.3(CHTF18):c.2237C>T (p.Pro746Leu)	CHTF18 (P746L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144824	NM_022092.3(CHTF18):c.2186G>A (p.Arg729Gln)	CHTF18 (R729Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144823	NM_022092.3(CHTF18):c.2060A>G (p.His687Arg)	CHTF18 (H687R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144821	NM_022092.3(CHTF18):c.1973G>T (p.Arg658Leu)	CHTF18 (R658L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144820	NM_022092.3(CHTF18):c.1889A>G (p.Gln630Arg)	CHTF18 (Q630R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144819	NM_022092.3(CHTF18):c.1861G>C (p.Asp621His)	CHTF18 (D621H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144818	NM_022092.3(CHTF18):c.1825G>A (p.Ala609Thr)	CHTF18 (A609T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144817	NM_022092.3(CHTF18):c.1792C>G (p.Arg598Gly)	CHTF18 (R598G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144816	NM_022092.3(CHTF18):c.1774G>A (p.Glu592Lys)	CHTF18 (E592K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144815	NM_022092.3(CHTF18):c.1727G>T (p.Arg576Leu)	CHTF18 (R576L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144814	NM_022092.3(CHTF18):c.170C>T (p.Ala57Val)	CHTF18 (A57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144813	NM_022092.3(CHTF18):c.1465A>G (p.Ile489Val)	CHTF18 (I489V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144812	NM_022092.3(CHTF18):c.1279G>A (p.Gly427Arg)	CHTF18 (G427R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144811	NM_022092.3(CHTF18):c.1277G>C (p.Gly426Ala)	CHTF18 (G426A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144810	NM_022092.3(CHTF18):c.1171G>A (p.Ala391Thr)	CHTF18 (A391T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144808	NM_022092.3(CHTF18):c.1064T>C (p.Leu355Pro)	CHTF18 (L355P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2645866	NM_022092.3(CHTF18):c.1182T>A (p.Ser394=)	CHTF18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645865	NM_022092.3(CHTF18):c.895-4G>T	CHTF18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2645864	NM_022092.3(CHTF18):c.369C>G (p.Pro123=)	CHTF18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620916	NM_022092.3(CHTF18):c.1438G>T (p.Gly480Trp)	CHTF18 (G480W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620443	NM_022092.3(CHTF18):c.2129C>T (p.Ala710Val)	CHTF18 (A710V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617543	NM_022092.3(CHTF18):c.1967T>G (p.Phe656Cys)	CHTF18 (F656C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613590	NM_022092.3(CHTF18):c.553G>A (p.Gly185Ser)	CHTF18 (G185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610551	NM_022092.3(CHTF18):c.706G>A (p.Glu236Lys)	CHTF18 (E236K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609242	NM_022092.3(CHTF18):c.2264A>G (p.Gln755Arg)	CHTF18 (Q755R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603765	NM_022092.3(CHTF18):c.2504C>T (p.Pro835Leu)	CHTF18 (P835L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599966	NM_022092.3(CHTF18):c.2747T>A (p.Phe916Tyr)	CHTF18 (F916Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593245	NM_022092.3(CHTF18):c.703C>T (p.Arg235Trp)	CHTF18 (R235W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592786	NM_022092.3(CHTF18):c.118G>T (p.Val40Phe)	CHTF18 (V40F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588599	NM_022092.3(CHTF18):c.1693C>T (p.Arg565Trp)	CHTF18 (R565W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563035	NM_022092.3(CHTF18):c.1709G>A (p.Arg570Gln)	CHTF18 (R570Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556589	NM_022092.3(CHTF18):c.2258C>T (p.Thr753Met)	CHTF18 (T753M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550666	NM_022092.3(CHTF18):c.530A>G (p.Tyr177Cys)	CHTF18 (Y177C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549800	NM_022092.3(CHTF18):c.1069G>A (p.Ala357Thr)	CHTF18 (A357T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542233	NM_022092.3(CHTF18):c.403A>G (p.Ser135Gly)	CHTF18 (S135G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525951	NM_022092.3(CHTF18):c.2743G>A (p.Asp915Asn)	CHTF18 (D915N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520582	NM_022092.3(CHTF18):c.1420C>T (p.Arg474Trp)	CHTF18 (R474W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519841	NM_022092.3(CHTF18):c.2216C>T (p.Thr739Met)	CHTF18 (T739M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518648	NM_022092.3(CHTF18):c.2893G>A (p.Val965Met)	CHTF18 (V965M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510498	NM_022092.3(CHTF18):c.1756C>T (p.Leu586Phe)	CHTF18 (L586F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
Select item 2492292	NM_022092.3(CHTF18):c.1181C>T (p.Ser394Phe)	CHTF18 (S394F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487361	NM_022092.3(CHTF18):c.528C>G (p.Asp176Glu)	CHTF18 (D176E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481852	NM_022092.3(CHTF18):c.496C>G (p.Pro166Ala)	CHTF18 (P166A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466666	NM_022092.3(CHTF18):c.1871C>T (p.Ser624Phe)	CHTF18 (S624F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455440	NM_022092.3(CHTF18):c.508C>T (p.Arg170Trp)	CHTF18 (R170W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	ANTKMT, ARHGDIG +64 more	Deletion	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	ANTKMT, ARHGDIG +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	ANTKMT, ARHGDIG +55 more	Deletion	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	CAPN15, CCDC154 +170 more	Duplication	Hyperaldosteronism, familial, type IV +3 more	GUncertain significance
Select item 2409317	NM_022092.3(CHTF18):c.1418G>A (p.Arg473Gln)	CHTF18 (R473Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408488	NM_022092.3(CHTF18):c.92G>A (p.Gly31Glu)	CHTF18 (G31E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407349	NM_022092.3(CHTF18):c.562G>T (p.Ala188Ser)	CHTF18 (A188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398240	NM_022092.3(CHTF18):c.1714G>T (p.Val572Leu)	CHTF18 (V572L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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