ClinVar for Gene (Select 27332) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3197389	NM_014497.5(ZNF638):c.845G>A (p.Arg282Gln)	ZNF638 (R282Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3197387	NM_014497.5(ZNF638):c.796G>A (p.Glu266Lys)	ZNF638 (E266K)	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 3197385	NM_014497.5(ZNF638):c.595C>T (p.Leu199Phe)	ZNF638 (L199F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197384	NM_014497.5(ZNF638):c.5605G>A (p.Val1869Met)	ZNF638 (V1869M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197383	NM_014497.5(ZNF638):c.5537A>G (p.His1846Arg)	ZNF638 (H1846R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197381	NM_014497.5(ZNF638):c.5313G>C (p.Glu1771Asp)	ZNF638 (E1771D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197380	NM_014497.5(ZNF638):c.5282C>T (p.Ser1761Phe)	ZNF638 (S1761F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197379	NM_014497.5(ZNF638):c.5281T>A (p.Ser1761Thr)	ZNF638 (S1761T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197378	NM_014497.5(ZNF638):c.5036G>A (p.Arg1679His)	ZNF638 (R1679H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197377	NM_014497.5(ZNF638):c.4918A>G (p.Asn1640Asp)	ZNF638 (N1640D)	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 3197374	NM_014497.5(ZNF638):c.4727A>T (p.Glu1576Val)	ZNF638 (E1576V)	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 3197372	NM_014497.5(ZNF638):c.3586G>A (p.Glu1196Lys)	ZNF638 (E1196K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3197369	NM_014497.5(ZNF638):c.2855C>G (p.Ala952Gly)	ZNF638 (A952G)	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 3197367	NM_014497.5(ZNF638):c.2743A>G (p.Lys915Glu)	ZNF638 (K915E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3197364	NM_014497.5(ZNF638):c.1778A>C (p.Lys593Thr)	ZNF638 (K593T)	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 3197362	NM_014497.5(ZNF638):c.1558A>C (p.Ser520Arg)	ZNF638 (S520R)	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 3197360	NM_014497.5(ZNF638):c.1506T>A (p.Ser502Arg)	ZNF638 (S502R)	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 3197358	NM_014497.5(ZNF638):c.1102G>A (p.Gly368Arg)	ZNF638 (G368R)	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 3197356	NM_014497.5(ZNF638):c.1013C>T (p.Ser338Leu)	ZNF638 (S338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2651023	NM_014497.5(ZNF638):c.4431G>A (p.Lys1477=)	LOC122787135, ZNF638	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622141	NM_014497.5(ZNF638):c.4655A>G (p.Asn1552Ser)	ZNF638 (N1552S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2611131	NM_014497.5(ZNF638):c.479A>T (p.Tyr160Phe)	ZNF638 (Y160F)	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 2607739	NM_014497.5(ZNF638):c.1897G>A (p.Gly633Arg)	ZNF638 (G633R)	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 2598037	NM_014497.5(ZNF638):c.2363C>T (p.Thr788Ile)	ZNF638 (T788I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2595242	NM_014497.5(ZNF638):c.1183A>G (p.Lys395Glu)	ZNF638 (K395E)	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 2590737	NM_014497.5(ZNF638):c.4582T>C (p.Ser1528Pro)	ZNF638 (S1528P)	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 2556838	NM_014497.5(ZNF638):c.2762A>T (p.Glu921Val)	ZNF638 (E921V)	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 2545733	NM_014497.5(ZNF638):c.3649A>G (p.Ile1217Val)	ZNF638 (I1217V)	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 2533514	NM_014497.5(ZNF638):c.4567G>A (p.Gly1523Ser)	ZNF638 (G1523S)	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 2528527	NM_014497.5(ZNF638):c.3799A>G (p.Lys1267Glu)	ZNF638 (K1267E)	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 2521891	NM_014497.5(ZNF638):c.4193T>C (p.Ile1398Thr)	ZNF638 (I1398T)	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 2510230	NM_014497.5(ZNF638):c.1049G>A (p.Arg350Gln)	ZNF638 (R350Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509395	NM_014497.5(ZNF638):c.4759T>A (p.Ser1587Thr)	ZNF638 (S1587T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508267	NM_014497.5(ZNF638):c.5849C>A (p.Thr1950Lys)	ZNF638 (T1950K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2488687	NM_014497.5(ZNF638):c.3062T>C (p.Leu1021Pro)	ZNF638 (L1021P)	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 2482484	NM_014497.5(ZNF638):c.4290G>C (p.Lys1430Asn)	ZNF638 (K1430N)	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 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	DGUOK, EMX1 +72 more	Duplication	not provided	GUncertain significance
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
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 2402055	NM_014497.5(ZNF638):c.217G>A (p.Val73Ile)	ZNF638 (V73I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2381894	NM_014497.5(ZNF638):c.5377G>A (p.Glu1793Lys)	ZNF638 (E1793K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380474	NM_014497.5(ZNF638):c.5390G>A (p.Ser1797Asn)	ZNF638 (S1797N)	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 2355507	NM_014497.5(ZNF638):c.2872A>G (p.Lys958Glu)	ZNF638 (K958E)	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 2344503	NM_014497.5(ZNF638):c.3619A>G (p.Ser1207Gly)	ZNF638 (S1207G)	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 2337369	NM_014497.5(ZNF638):c.5590T>C (p.Ser1864Pro)	ZNF638 (S1864P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2331690	NM_014497.5(ZNF638):c.4250T>A (p.Phe1417Tyr)	ZNF638 (F1417Y)	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 2316338	NM_014497.5(ZNF638):c.2438C>G (p.Ala813Gly)	ZNF638 (A813G)	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 2311112	NM_014497.5(ZNF638):c.5750A>C (p.Glu1917Ala)	ZNF638 (E1917A)	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 2308720	NM_014497.5(ZNF638):c.1703C>T (p.Ser568Leu)	ZNF638 (S568L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300304	NM_014497.5(ZNF638):c.4829C>T (p.Ala1610Val)	ZNF638 (A1610V)	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 2289551	NM_014497.5(ZNF638):c.4179C>G (p.Ser1393Arg)	ZNF638 (S1393R)	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 2274488	NM_014497.5(ZNF638):c.2659G>T (p.Ala887Ser)	ZNF638 (A887S)	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 2261495	NM_014497.5(ZNF638):c.1051A>G (p.Ile351Val)	ZNF638 (I351V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260393	NM_014497.5(ZNF638):c.4571G>A (p.Arg1524Lys)	ZNF638 (R1524K)	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 2247523	NM_014497.5(ZNF638):c.4387C>T (p.Leu1463Phe)	ZNF638 (L1463F)	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 2235639	NM_014497.5(ZNF638):c.2594C>T (p.Ser865Phe)	ZNF638 (S865F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234027	NM_014497.5(ZNF638):c.5731G>T (p.Val1911Leu)	ZNF638 (V1911L)	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 2225885	NM_014497.5(ZNF638):c.931G>A (p.Val311Ile)	ZNF638 (V311I)	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

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