17327[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 150697	GRCh38/hg38 10p12.1-11.23(chr10:26823016-30248926)x1	ABI1, ACBD5 +101 more	Copy number loss	See cases	GPathogenic
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 59700	GRCh38/hg38 10p12.1-11.23(chr10:27767970-30046085)x3	BAMBI, C10orf126 +49 more	Copy number gain	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 662757	NM_016628.5(WAC):c.25C>T (p.Gln9Ter)	WAC (Q9*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1343214	NM_016628.5(WAC):c.29_30del (p.Arg10fs)	WAC (R10fs)	Microsatellite (frameshift variant +1 more)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 1333994	NM_016628.5(WAC):c.31C>T (p.Leu11Phe)	WAC (L11F)	Single nucleotide variant (missense variant +1 more)	DeSanto-Shinawi syndrome due to WAC point mutation	GUncertain significance
Select item 746016	NM_016628.5(WAC):c.41+10C>T	WAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3189468	NM_016628.5(WAC):c.59G>A (p.Gly20Glu)	LOC130003576, WAC (G20E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3053577	NM_016628.5(WAC):c.66G>T (p.Ser22=)	LOC130003576, WAC	Single nucleotide variant (synonymous variant +1 more)	WAC-related disorder	GLikely benign
Select item 1334518	NM_016628.5(WAC):c.67C>T (p.Gln23Ter)	LOC130003576, WAC (Q23*)	Single nucleotide variant (nonsense +1 more)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
Select item 2536390	NM_016628.5(WAC):c.74A>G (p.Tyr25Cys)	LOC130003576, WAC (Y25C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1335878	NM_016628.5(WAC):c.78+1G>A	LOC130003576, WAC	Single nucleotide variant (splice donor variant)	DeSanto-Shinawi syndrome +1 more	Gnot provided
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 3035983	NM_016628.5(WAC):c.96G>A (p.Ser32=)	WAC	Single nucleotide variant (synonymous variant +1 more)	WAC-related disorder	GLikely benign
Select item 219144	NM_016628.5(WAC):c.112del (p.Ser38fs)	WAC (S38fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2231021	NM_016628.5(WAC):c.125G>A (p.Arg42Lys)	WAC (R42K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 817273	NM_016628.5(WAC):c.203_204del (p.Lys68fs)	WAC (K23fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1710204	NM_016628.5(WAC):c.207C>A (p.Tyr69Ter)	WAC (Y24* +1 more)	Single nucleotide variant (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 2640383	NM_016628.5(WAC):c.208A>G (p.Ser70Gly)	WAC (S25G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2438660	NM_016628.5(WAC):c.265_266del (p.Arg89fs)	WAC (R44fs +1 more)	Microsatellite (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	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 219141	NM_016628.5(WAC):c.267_268dup (p.Asp90fs)	WAC (D45fs +1 more)	Duplication (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 1709504	NM_016628.5(WAC):c.272del (p.Gly91fs)	WAC (G46fs +1 more)	Deletion (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
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 1325534	NM_016628.5(WAC):c.275-22319G>T	WAC	Single nucleotide variant (intron variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GUncertain significance
Select item 2284981	NM_016628.5(WAC):c.275-2del	WAC	Deletion (splice acceptor variant)	Inborn genetic diseases	GUncertain significance
Select item 1325352	NM_016628.5(WAC):c.275-1G>A	WAC	Single nucleotide variant (splice acceptor variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
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 2627951	NM_016628.5(WAC):c.284dup (p.Tyr95Ter)	WAC (Y50* +1 more)	Duplication (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
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 2266121	NM_016628.5(WAC):c.301T>A (p.Ser101Thr)	WAC (S56T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2266122	NM_016628.5(WAC):c.305dup (p.His102fs)	WAC (H57fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
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 3189466	NM_016628.5(WAC):c.314G>T (p.Ser105Ile)	WAC (S105I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 752763	NM_016628.5(WAC):c.324T>C (p.His108=)	WAC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2640384	NM_016628.5(WAC):c.337C>T (p.His113Tyr)	WAC (H113Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2501366	NM_016628.5(WAC):c.350dup (p.Ser118fs)	WAC (S118fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2570768	NM_016628.5(WAC):c.356A>T (p.Asn119Ile)	WAC (N119I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1031972	NM_016628.5(WAC):c.367A>C (p.Lys123Gln)	WAC (K123Q +1 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GUncertain significance
Select item 219142	NM_016628.5(WAC):c.374C>A (p.Ser125Ter)	WAC (S125* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	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 917876	NM_016628.5(WAC):c.405G>A (p.Trp135Ter)	WAC (W135* +1 more)	Single nucleotide variant (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
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 1526166	NM_016628.5(WAC):c.438del (p.Tyr147fs)	WAC (Y102fs +1 more)	Deletion (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
Select item 1072110	NM_016628.5(WAC):c.444C>A (p.Tyr148Ter)	WAC (Y103* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1698474	NM_016628.5(WAC):c.451C>G (p.Arg151Gly)	WAC (R106G +1 more)	Single nucleotide variant (missense variant)	not specified	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 3251853	NM_016628.5(WAC):c.455C>T (p.Thr152Ile)	WAC (T107I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1727239	NM_016628.5(WAC):c.464dup (p.Gln156fs)	WAC (Q111fs +1 more)	Duplication (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic

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