"GeneDx"[submitter] AND "WAC"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 166

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58719	GRCh38/hg38 10p12.1-11.23(chr10:27046685-30228891)x1	ACBD5, ANKRD26 +90 more	Copy number loss	See cases	GPathogenic
Select item 1271155	NM_016628.5(WAC):c.-136A>C	WAC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1188283	NM_016628.5(WAC):c.-49C>G	LOC130003574, WAC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1270123	NM_016628.5(WAC):c.-19A>G	LOC130003574, WAC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1700970	NM_016628.5(WAC):c.-6G>T	LOC130003574, WAC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1305551	NM_016628.5(WAC):c.-3T>C	LOC130003574, WAC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1310182	NM_016628.5(WAC):c.8T>C (p.Met3Thr)	LOC130003574, WAC (M3T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372922	NM_016628.5(WAC):c.14C>G (p.Ala5Gly)	LOC130003574, WAC (A5G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1238326	NM_016628.5(WAC):c.41+38G>T	WAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1335861	NM_016628.5(WAC):c.41+40GGC[4]	WAC	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1219860	NM_016628.5(WAC):c.41+40GGC[5]	WAC	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1199167	NM_016628.5(WAC):c.42-186C>T	LOC130003575, WAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197674	NM_016628.5(WAC):c.42-74G>A	LOC130003576, WAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254192	NM_016628.5(WAC):c.61dup (p.Asp21fs)	LOC130003576, WAC (D21fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1220913	NM_016628.5(WAC):c.78+19G>T	LOC130003576, WAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253125	NM_016628.5(WAC):c.78+23A>G	LOC130003576, WAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264912	NM_016628.5(WAC):c.78+34G>A	LOC130003576, WAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278808	NM_016628.5(WAC):c.78+163G>A	WAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277842	NM_016628.5(WAC):c.78+164C>T	WAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188639	NM_016628.5(WAC):c.79-227del	WAC	Deletion (intron variant)	not provided	GLikely benign
Select item 1232413	NM_016628.5(WAC):c.79-227G>T	WAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286356	NM_016628.5(WAC):c.79-6T>C	WAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307703	NM_016628.5(WAC):c.95C>T (p.Ser32Leu)	WAC (S32L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 219144	NM_016628.5(WAC):c.112del (p.Ser38fs)	WAC (S38fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 987235	NM_016628.5(WAC):c.139C>T (p.Arg47Ter)	WAC (R2* +1 more)	Single nucleotide variant (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation +1 more	GPathogenic
Select item 1678817	NM_016628.5(WAC):c.140G>A (p.Arg47Gln)	WAC (R2Q +1 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome due to WAC point mutation +1 more	GConflicting classifications of pathogenicity
Select item 3373236	NM_016628.5(WAC):c.181A>G (p.Arg61Gly)	WAC (R16G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817273	NM_016628.5(WAC):c.203_204del (p.Lys68fs)	WAC (K23fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1712694	NM_016628.5(WAC):c.228_231del (p.Ser76fs)	WAC (S31fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1306403	NM_016628.5(WAC):c.233C>A (p.Ala78Asp)	WAC (A33D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452335	NM_016628.5(WAC):c.251_252insAA (p.His84fs)	WAC (H84fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 432966	NM_016628.5(WAC):c.252_253del (p.His84fs)	WAC (H39fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1179573	NM_016628.5(WAC):c.255_256del (p.Arg85fs)	WAC (R40fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 503976	NM_016628.5(WAC):c.257_258del (p.Val86fs)	WAC (V41fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 219139	NM_016628.5(WAC):c.263_266del (p.Glu88fs)	WAC (E88fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 2499922	NM_016628.5(WAC):c.260G>C (p.Arg87Thr)	WAC (R42T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 668542	NM_016628.5(WAC):c.274+3G>A	WAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228034	NM_016628.5(WAC):c.274+52A>G	WAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270804	NM_016628.5(WAC):c.274+140dup	WAC	Duplication (intron variant)	not provided	GBenign
Select item 1211822	NM_016628.5(WAC):c.274+255C>T	WAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217993	NM_016628.5(WAC):c.274+256G>A	WAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198242	NM_016628.5(WAC):c.276G>A (p.Gly92=)	WAC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1310753	NM_016628.5(WAC):c.278C>G (p.Thr93Ser)	WAC (T48S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1265192	NM_016628.5(WAC):c.284A>G (p.Tyr95Cys)	WAC (Y50C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3364168	NM_016628.5(WAC):c.304C>G (p.His102Asp)	WAC (H102D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817992	NM_016628.5(WAC):c.310del (p.His104fs)	WAC (H104fs +1 more)	Deletion (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation +1 more	GPathogenic
Select item 817437	NM_016628.5(WAC):c.313dup (p.Ser105fs)	WAC (S60fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2578154	NM_016628.5(WAC):c.313A>G (p.Ser105Gly)	WAC (S105G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253152	NM_016628.5(WAC):c.329C>G (p.Ser110Ter)	WAC (S110* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2501366	NM_016628.5(WAC):c.350dup (p.Ser118fs)	WAC (S118fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1708751	NM_016628.5(WAC):c.376G>C (p.Asp126His)	WAC (D126H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 633580	NM_016628.5(WAC):c.381+4_381+7del	WAC	Microsatellite (splice donor variant)	DeSanto-Shinawi syndrome due to WAC point mutation +1 more	GConflicting classifications of pathogenicity
Select item 1179896	NM_016628.5(WAC):c.381+63dup	WAC	Duplication (intron variant)	not provided	GBenign
Select item 1261168	NM_016628.5(WAC):c.381+107dup	WAC	Duplication (intron variant)	not provided	GBenign
Select item 1201641	NM_016628.5(WAC):c.381+106T>A	WAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199602	NM_016628.5(WAC):c.381+107T>A	WAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214315	NM_016628.5(WAC):c.382-195A>G	WAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 489085	NM_016628.5(WAC):c.382-2A>G	WAC	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2503377	NM_016628.5(WAC):c.390T>G (p.Asp130Glu)	WAC (D130E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738429	NM_016628.5(WAC):c.432A>G (p.Lys144=)	WAC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1331116	NM_016628.5(WAC):c.436TAC[2] (p.Tyr148del)	WAC (Y103del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 445335	NM_016628.5(WAC):c.437A>G (p.Tyr146Cys)	WAC (Y101C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280400	NM_016628.5(WAC):c.451C>T (p.Arg151Ter)	WAC (R151* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1693036	NM_016628.5(WAC):c.460G>A (p.Val154Ile)	WAC (V109I +1 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome due to WAC point mutation +1 more	GConflicting classifications of pathogenicity
Select item 3340967	NM_016628.5(WAC):c.482_483del (p.Lys161fs)	WAC (K116fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1231170	NM_016628.5(WAC):c.497+14A>T	WAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201247	NM_016628.5(WAC):c.497+69A>G	WAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216561	NM_016628.5(WAC):c.497+126G>A	WAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194519	NM_016628.5(WAC):c.497+331A>G	WAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327758	NM_016628.5(WAC):c.498-46G>T	WAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302685	NM_016628.5(WAC):c.498-9dup	WAC	Duplication (intron variant)	not provided	GLikely benign
Select item 1198998	NM_016628.5(WAC):c.498-9del	WAC	Deletion (intron variant)	not provided	GLikely benign
Select item 523849	NM_016628.5(WAC):c.577C>T (p.Gln193Ter)	WAC (Q148* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 723708	NM_016628.5(WAC):c.583A>G (p.Thr195Ala)	WAC (T150A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1222160	NM_016628.5(WAC):c.610+77A>G	WAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284047	NM_016628.5(WAC):c.611-300G>A	WAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240883	NM_016628.5(WAC):c.611-33C>G	WAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 421041	NM_016628.5(WAC):c.658del (p.Ile220fs)	WAC (I220fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 817803	NM_016628.5(WAC):c.670_673del (p.Thr224fs)	WAC (T179fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1214524	NM_016628.5(WAC):c.736G>C (p.Val246Leu)	WAC (V201L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1229664	NM_016628.5(WAC):c.769A>G (p.Thr257Ala)	WAC (T212A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1710867	NM_016628.5(WAC):c.837A>G (p.Ser279=)	WAC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1223419	NM_016628.5(WAC):c.839T>C (p.Phe280Ser)	WAC (F235S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 280741	NM_016628.5(WAC):c.851dup (p.Ala285fs)	WAC (A240fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3364223	NM_016628.5(WAC):c.854dup (p.Ser286fs)	WAC (S241fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1702583	NM_016628.5(WAC):c.857C>A (p.Ser286Tyr)	WAC (S241Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1268401	NM_016628.5(WAC):c.920-28T>G	WAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787899	NM_016628.5(WAC):c.925A>G (p.Thr309Ala)	WAC (T309A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1678846	NM_016628.5(WAC):c.971C>T (p.Thr324Met)	WAC (T221M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3369883	NM_016628.5(WAC):c.974C>G (p.Ser325Cys)	WAC (S222C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373124	NM_016628.5(WAC):c.1072C>T (p.Gln358Ter)	WAC (Q313* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1197040	NM_016628.5(WAC):c.1118C>T (p.Thr373Met)	WAC (T270M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 424178	NM_016628.5(WAC):c.1129A>G (p.Asn377Asp)	WAC (N332D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1178655	NM_016628.5(WAC):c.1141G>A (p.Val381Met)	WAC (V278M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 642241	NM_016628.5(WAC):c.1161_1164del (p.Asn387fs)	WAC (N342fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1239550	NM_016628.5(WAC):c.1165+325G>A	WAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232482	NM_016628.5(WAC):c.1166-305T>C	WAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230157	NM_016628.5(WAC):c.1166-158G>T	WAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 280431	NM_016628.5(WAC):c.1171dup (p.Thr391fs)	WAC (T288fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 424030	NM_016628.5(WAC):c.1198C>T (p.Gln400Ter)	WAC (Q355* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic

<< First< Prev

Page of 2