CHTF18[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 148917	GRCh38/hg38 16p13.3(chr16:46766-882211)x1	NHLRC4, NME4 +119 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 150513	GRCh38/hg38 16p13.3(chr16:412341-925326)x3	ANTKMT, CAPN15 +76 more	Copy number gain	See cases	GUncertain significance
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 148466	GRCh38/hg38 16p13.3(chr16:742199-1019543)x1	CEROX1, CHTF18 +18 more	Copy number loss	See cases	GUncertain significance
Select item 154698	GRCh38/hg38 16p13.3(chr16:752357-1064093)x1	CEROX1, CHTF18 +21 more	Copy number loss	See cases	GUncertain significance
Select item 145780	GRCh38/hg38 16p13.3(chr16:774069-813010)x3	CHTF18, GNG13 +8 more	Copy number gain	See cases	GBenign
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 3144835	NM_022092.3(CHTF18):c.26G>A (p.Cys9Tyr)	CHTF18 (C9Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389365	NM_022092.3(CHTF18):c.43T>A (p.Phe15Ile)	CHTF18 (F15I)	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 2408488	NM_022092.3(CHTF18):c.92G>A (p.Gly31Glu)	CHTF18 (G31E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271342	NM_022092.3(CHTF18):c.109C>T (p.Pro37Ser)	CHTF18 (P37S)	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 2240924	NM_022092.3(CHTF18):c.146C>G (p.Pro49Arg)	CHTF18 (P49R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2376982	NM_022092.3(CHTF18):c.172A>G (p.Arg58Gly)	CHTF18 (R58G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2228830	NM_022092.3(CHTF18):c.341C>T (p.Ser114Leu)	CHTF18 (S114L)	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 2351842	NM_022092.3(CHTF18):c.349A>T (p.Met117Leu)	CHTF18 (M117L)	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 2645864	NM_022092.3(CHTF18):c.369C>G (p.Pro123=)	CHTF18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2542233	NM_022092.3(CHTF18):c.403A>G (p.Ser135Gly)	CHTF18 (S135G)	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 3267275	NM_022092.3(CHTF18):c.458A>G (p.Asp153Gly)	CHTF18 (D153G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334088	NM_022092.3(CHTF18):c.459C>G (p.Asp153Glu)	CHTF18 (D153E)	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 2481852	NM_022092.3(CHTF18):c.496C>G (p.Pro166Ala)	CHTF18 (P166A)	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 3144847	NM_022092.3(CHTF18):c.521T>C (p.Leu174Ser)	CHTF18 (L174S)	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 2550666	NM_022092.3(CHTF18):c.530A>G (p.Tyr177Cys)	CHTF18 (Y177C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786283	NM_022092.3(CHTF18):c.537C>T (p.His179=)	CHTF18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2263557	NM_022092.3(CHTF18):c.538G>A (p.Val180Met)	CHTF18 (V180M)	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 2407349	NM_022092.3(CHTF18):c.562G>T (p.Ala188Ser)	CHTF18 (A188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264377	NM_022092.3(CHTF18):c.577C>T (p.Arg193Cys)	CHTF18 (R193C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299847	NM_022092.3(CHTF18):c.596C>T (p.Pro199Leu)	CHTF18 (P199L)	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 3267288	NM_022092.3(CHTF18):c.647T>G (p.Leu216Arg)	CHTF18 (L216R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711639	NM_022092.3(CHTF18):c.697G>A (p.Glu233Lys)	CHTF18 (E233K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2342761	NM_022092.3(CHTF18):c.700C>T (p.Arg234Trp)	CHTF18 (R234W)	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 2610551	NM_022092.3(CHTF18):c.706G>A (p.Glu236Lys)	CHTF18 (E236K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724412	NM_022092.3(CHTF18):c.760T>C (p.Ser254Pro)	CHTF18 (S254P)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3267282	NM_022092.3(CHTF18):c.793G>C (p.Ala265Pro)	CHTF18 (A265P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384579	NM_022092.3(CHTF18):c.794C>T (p.Ala265Val)	CHTF18 (A265V)	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 3144852	NM_022092.3(CHTF18):c.808C>T (p.Pro270Ser)	CHTF18 (P270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390186	NM_022092.3(CHTF18):c.809C>T (p.Pro270Leu)	CHTF18 (P270L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 786284	NM_022092.3(CHTF18):c.852T>A (p.Asp284Glu)	CHTF18 (D284E)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2645865	NM_022092.3(CHTF18):c.895-4G>T	CHTF18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2277680	NM_022092.3(CHTF18):c.902A>G (p.Asn301Ser)	CHTF18 (N301S)	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 3144853	NM_022092.3(CHTF18):c.908G>A (p.Cys303Tyr)	CHTF18 (C303Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236752	NM_022092.3(CHTF18):c.967C>G (p.Arg323Gly)	CHTF18 (R323G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775363	NM_022092.3(CHTF18):c.972G>A (p.Lys324=)	CHTF18	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2549800	NM_022092.3(CHTF18):c.1069G>A (p.Ala357Thr)	CHTF18 (A357T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392127	NM_022092.3(CHTF18):c.1166G>A (p.Arg389His)	CHTF18 (R389H)	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 2492292	NM_022092.3(CHTF18):c.1181C>T (p.Ser394Phe)	CHTF18 (S394F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645866	NM_022092.3(CHTF18):c.1182T>A (p.Ser394=)	CHTF18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2367279	NM_022092.3(CHTF18):c.1210C>T (p.Arg404Cys)	CHTF18 (R404C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377568	NM_022092.3(CHTF18):c.1228C>A (p.Arg410Ser)	CHTF18 (R410S)	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 3144811	NM_022092.3(CHTF18):c.1277G>C (p.Gly426Ala)	CHTF18 (G426A)	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 2390020	NM_022092.3(CHTF18):c.1324G>A (p.Val442Met)	CHTF18 (V442M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389695	NM_022092.3(CHTF18):c.1351A>G (p.Ile451Val)	CHTF18 (I451V)	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 2303920	NM_022092.3(CHTF18):c.1361G>A (p.Arg454His)	CHTF18 (R454H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369549	NM_022092.3(CHTF18):c.1367G>C (p.Gly456Ala)	CHTF18 (G456A)	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 3267279	NM_022092.3(CHTF18):c.1394C>T (p.Pro465Leu)	CHTF18 (P465L)	Single nucleotide variant (missense variant)	not specified	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 2520582	NM_022092.3(CHTF18):c.1420C>T (p.Arg474Trp)	CHTF18 (R474W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3144813	NM_022092.3(CHTF18):c.1465A>G (p.Ile489Val)	CHTF18 (I489V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232582	NM_022092.3(CHTF18):c.1621C>T (p.Leu541Phe)	CHTF18 (L541F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790159	NM_022092.3(CHTF18):c.1623C>A (p.Leu541=)	CHTF18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2343057	NM_022092.3(CHTF18):c.1685G>A (p.Arg562Gln)	CHTF18 (R562Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259443	NM_022092.3(CHTF18):c.1688G>A (p.Gly563Asp)	CHTF18 (G563D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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