ZNF638[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 144474	GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3	ADD2, ANKRD53 +48 more	Copy number gain	See cases	GUncertain significance
Select item 3258992	NM_014497.5(ZNF638):c.99G>T (p.Arg33Ser)	ZNF638 (R33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308943	NM_014497.5(ZNF638):c.154C>T (p.Pro52Ser)	ZNF638 (P52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239208	NM_014497.5(ZNF638):c.214C>G (p.Gln72Glu)	ZNF638 (Q72E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402055	NM_014497.5(ZNF638):c.217G>A (p.Val73Ile)	ZNF638 (V73I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537006	NM_014497.5(ZNF638):c.289G>C (p.Gly97Arg)	ZNF638 (G97R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259010	NM_014497.5(ZNF638):c.346G>A (p.Val116Met)	ZNF638 (V116M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197373	NM_014497.5(ZNF638):c.389A>G (p.Lys130Arg)	ZNF638 (K130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522520	NM_014497.5(ZNF638):c.401G>A (p.Arg134His)	ZNF638 (R134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197376	NM_014497.5(ZNF638):c.475C>T (p.Arg159Cys)	ZNF638 (R159C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611131	NM_014497.5(ZNF638):c.479A>T (p.Tyr160Phe)	ZNF638 (Y160F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530347	NM_014497.5(ZNF638):c.554G>A (p.Arg185Gln)	ZNF638 (R185Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197385	NM_014497.5(ZNF638):c.595C>T (p.Leu199Phe)	ZNF638 (L199F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197386	NM_014497.5(ZNF638):c.598G>A (p.Gly200Ser)	ZNF638 (G200S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349282	NM_014497.5(ZNF638):c.707A>T (p.Asp236Val)	ZNF638 (D236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218742	NM_014497.5(ZNF638):c.715G>A (p.Glu239Lys)	ZNF638 (E239K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3258990	NM_014497.5(ZNF638):c.737A>G (p.Gln246Arg)	ZNF638 (Q246R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197387	NM_014497.5(ZNF638):c.796G>A (p.Glu266Lys)	ZNF638 (E266K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197388	NM_014497.5(ZNF638):c.838A>G (p.Asn280Asp)	ZNF638 (N280D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259006	NM_014497.5(ZNF638):c.839A>G (p.Asn280Ser)	ZNF638 (N280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197389	NM_014497.5(ZNF638):c.845G>A (p.Arg282Gln)	ZNF638 (R282Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2206133	NM_014497.5(ZNF638):c.863A>G (p.Glu288Gly)	ZNF638 (E288G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197390	NM_014497.5(ZNF638):c.928T>A (p.Ser310Thr)	ZNF638 (S310T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225885	NM_014497.5(ZNF638):c.931G>A (p.Val311Ile)	ZNF638 (V311I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231472	NM_014497.5(ZNF638):c.935A>G (p.Asn312Ser)	ZNF638 (N312S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3259000	NM_014497.5(ZNF638):c.967A>G (p.Met323Val)	ZNF638 (M323V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549022	NM_014497.5(ZNF638):c.986C>T (p.Pro329Leu)	ZNF638 (P329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197356	NM_014497.5(ZNF638):c.1013C>T (p.Ser338Leu)	ZNF638 (S338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197357	NM_014497.5(ZNF638):c.1016C>T (p.Ser339Leu)	ZNF638 (S339L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510230	NM_014497.5(ZNF638):c.1049G>A (p.Arg350Gln)	ZNF638 (R350Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261495	NM_014497.5(ZNF638):c.1051A>G (p.Ile351Val)	ZNF638 (I351V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197358	NM_014497.5(ZNF638):c.1102G>A (p.Gly368Arg)	ZNF638 (G368R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259002	NM_014497.5(ZNF638):c.1180C>T (p.Pro394Ser)	ZNF638 (P394S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595242	NM_014497.5(ZNF638):c.1183A>G (p.Lys395Glu)	ZNF638 (K395E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197359	NM_014497.5(ZNF638):c.1211T>G (p.Met404Arg)	ZNF638 (M404R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266352	NM_014497.5(ZNF638):c.1372C>A (p.Arg458Ser)	ZNF638 (R458S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514599	NM_014497.5(ZNF638):c.1484G>A (p.Arg495His)	ZNF638 (R495H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197360	NM_014497.5(ZNF638):c.1506T>A (p.Ser502Arg)	ZNF638 (S502R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197361	NM_014497.5(ZNF638):c.1534A>G (p.Met512Val)	ZNF638 (M512V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2492398	NM_014497.5(ZNF638):c.1535T>C (p.Met512Thr)	ZNF638 (M512T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197362	NM_014497.5(ZNF638):c.1558A>C (p.Ser520Arg)	ZNF638 (S520R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197363	NM_014497.5(ZNF638):c.1583G>A (p.Arg528His)	ZNF638 (R528H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341092	NM_014497.5(ZNF638):c.1631G>A (p.Arg544Gln)	ZNF638 (R544Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311934	NM_014497.5(ZNF638):c.1690A>G (p.Met564Val)	ZNF638 (M564V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308720	NM_014497.5(ZNF638):c.1703C>T (p.Ser568Leu)	ZNF638 (S568L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197364	NM_014497.5(ZNF638):c.1778A>C (p.Lys593Thr)	ZNF638 (K593T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282840	NM_014497.5(ZNF638):c.1834A>T (p.Thr612Ser)	ZNF638 (T612S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607739	NM_014497.5(ZNF638):c.1897G>A (p.Gly633Arg)	ZNF638 (G633R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258998	NM_014497.5(ZNF638):c.1945T>G (p.Leu649Val)	ZNF638 (L649V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258999	NM_014497.5(ZNF638):c.1975G>C (p.Ala659Pro)	ZNF638 (A659P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299296	NM_014497.5(ZNF638):c.2086T>G (p.Leu696Val)	ZNF638 (L696V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2620953	NM_014497.5(ZNF638):c.2203A>G (p.Thr735Ala)	ZNF638 (T735A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208954	NM_014497.5(ZNF638):c.2213C>T (p.Thr738Met)	ZNF638 (T738M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398059	NM_014497.5(ZNF638):c.2291T>C (p.Leu764Ser)	ZNF638 (L764S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197365	NM_014497.5(ZNF638):c.2306T>C (p.Val769Ala)	ZNF638 (V769A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259013	NM_014497.5(ZNF638):c.2317A>G (p.Thr773Ala)	ZNF638 (T773A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598037	NM_014497.5(ZNF638):c.2363C>T (p.Thr788Ile)	ZNF638 (T788I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609843	NM_014497.5(ZNF638):c.2422T>C (p.Ser808Pro)	ZNF638 (S808P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258994	NM_014497.5(ZNF638):c.2438C>T (p.Ala813Val)	ZNF638 (A813V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316338	NM_014497.5(ZNF638):c.2438C>G (p.Ala813Gly)	ZNF638 (A813G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259011	NM_014497.5(ZNF638):c.2462C>T (p.Thr821Met)	ZNF638 (T821M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258993	NM_014497.5(ZNF638):c.2464G>T (p.Val822Leu)	ZNF638 (V822L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235639	NM_014497.5(ZNF638):c.2594C>T (p.Ser865Phe)	ZNF638 (S865F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206123	NM_014497.5(ZNF638):c.2594C>G (p.Ser865Cys)	ZNF638 (S865C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595029	NM_014497.5(ZNF638):c.2602A>G (p.Lys868Glu)	ZNF638 (K868E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488087	NM_014497.5(ZNF638):c.2633A>C (p.Asn878Thr)	ZNF638 (N878T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274488	NM_014497.5(ZNF638):c.2659G>T (p.Ala887Ser)	ZNF638 (A887S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197367	NM_014497.5(ZNF638):c.2743A>G (p.Lys915Glu)	ZNF638 (K915E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556838	NM_014497.5(ZNF638):c.2762A>T (p.Glu921Val)	ZNF638 (E921V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197368	NM_014497.5(ZNF638):c.2768A>G (p.Tyr923Cys)	ZNF638 (Y923C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197369	NM_014497.5(ZNF638):c.2855C>G (p.Ala952Gly)	ZNF638 (A952G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355507	NM_014497.5(ZNF638):c.2872A>G (p.Lys958Glu)	ZNF638 (K958E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460156	NM_014497.5(ZNF638):c.2941A>G (p.Met981Val)	ZNF638 (M981V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1232080	NM_014497.5(ZNF638):c.3018T>C (p.Ile1006=)	ZNF638	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3197370	NM_014497.5(ZNF638):c.3026G>A (p.Arg1009Gln)	ZNF638 (R1009Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488687	NM_014497.5(ZNF638):c.3062T>C (p.Leu1021Pro)	ZNF638 (L1021P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1248509	NM_014497.5(ZNF638):c.3132C>T (p.Asn1044=)	ZNF638	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2596835	NM_014497.5(ZNF638):c.3178T>C (p.Tyr1060His)	ZNF638 (Y1060H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559135	NM_014497.5(ZNF638):c.3179A>G (p.Tyr1060Cys)	ZNF638 (Y1060C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410493	NM_014497.5(ZNF638):c.3208A>G (p.Ile1070Val)	ZNF638 (I1070V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598136	NM_014497.5(ZNF638):c.3403A>G (p.Ile1135Val)	ZNF638 (I1135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221728	NM_014497.5(ZNF638):c.3436C>T (p.Pro1146Ser)	ZNF638 (P1146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217477	NM_014497.5(ZNF638):c.3487G>C (p.Glu1163Gln)	ZNF638 (E1163Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197372	NM_014497.5(ZNF638):c.3586G>A (p.Glu1196Lys)	ZNF638 (E1196K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329298	NM_014497.5(ZNF638):c.3590A>G (p.Glu1197Gly)	ZNF638 (E1197G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344503	NM_014497.5(ZNF638):c.3619A>G (p.Ser1207Gly)	ZNF638 (S1207G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545733	NM_014497.5(ZNF638):c.3649A>G (p.Ile1217Val)	ZNF638 (I1217V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259003	NM_014497.5(ZNF638):c.3773T>C (p.Met1258Thr)	ZNF638 (M1258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528527	NM_014497.5(ZNF638):c.3799A>G (p.Lys1267Glu)	ZNF638 (K1267E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259412	NM_014497.5(ZNF638):c.3814T>A (p.Ser1272Thr)	ZNF638 (S1272T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258989	NM_014497.5(ZNF638):c.3838A>G (p.Ile1280Val)	ZNF638 (I1280V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3258995	NM_014497.5(ZNF638):c.3940G>A (p.Glu1314Lys)	ZNF638 (E1314K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224864	NM_014497.5(ZNF638):c.3950C>T (p.Thr1317Ile)	ZNF638 (T1317I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258988	NM_014497.5(ZNF638):c.4006G>A (p.Gly1336Ser)	ZNF638 (G1336S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369409	NM_014497.5(ZNF638):c.4016A>T (p.Asp1339Val)	ZNF638 (D1339V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2335136	NM_014497.5(ZNF638):c.4045A>G (p.Met1349Val)	ZNF638 (M1349V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2289551	NM_014497.5(ZNF638):c.4179C>G (p.Ser1393Arg)	ZNF638 (S1393R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208680	NM_014497.5(ZNF638):c.4180A>G (p.Ile1394Val)	ZNF638 (I1394V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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