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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	LOC130059528, LOC130059529 +162 more	Copy number loss	See cases	GPathogenic
Select item 669924	NM_016373.4(WWOX):c.1057-292C>T	MAF, WWOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668843	NM_016373.4(WWOX):c.1057-266T>C	MAF, WWOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183518	NM_016373.4(WWOX):c.1057-247T>C	MAF, WWOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677512	NM_016373.4(WWOX):c.1057-142C>G	MAF, WWOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670869	NM_016373.4(WWOX):c.1057-40T>C	MAF, WWOX	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1189403	NM_016373.4(WWOX):c.1057-23dup	MAF, WWOX	Duplication (intron variant)	not provided	GLikely benign
Select item 511782	NM_016373.4(WWOX):c.1057-18_1057-17dup	MAF, WWOX	Duplication (intron variant)	not specified +2 more	GLikely benign
Select item 421502	NM_016373.4(WWOX):c.1057-16del	MAF, WWOX	Deletion (intron variant)	not specified	GLikely benign
Select item 260736	NM_016373.4(WWOX):c.1057-14T>C	MAF, WWOX	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 509294	NM_016373.4(WWOX):c.1057-4C>T	WWOX, MAF	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 391689	NM_016373.4(WWOX):c.1066G>A (p.Ala356Thr)	MAF, WWOX (A356T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 392079	NM_016373.4(WWOX):c.1077C>T (p.Thr359=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 1046813	NM_016373.4(WWOX):c.1085G>A (p.Cys362Tyr)	WWOX, MAF (C249Y +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 450593	NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter)	MAF, WWOX (G372* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 419331	NM_016373.4(WWOX):c.1115G>A (p.Gly372Glu)	MAF, WWOX (G372E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 540234	NM_016373.4(WWOX):c.1131C>A (p.Asn377Lys)	MAF, WWOX (N377K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 383124	NM_016373.4(WWOX):c.1134C>T (p.Asn378=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +5 more	GBenign/Likely benign
Select item 546347	NM_016373.4(WWOX):c.1139G>A (p.Cys380Tyr)	MAF, WWOX (C380Y +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1316933	NM_016373.4(WWOX):c.1141C>G (p.Arg381Gly)	MAF, WWOX (R268G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 235284	NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys)	MAF, WWOX (R381C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 28 +4 more	GBenign/Likely benign
Select item 410089	NM_016373.4(WWOX):c.1142G>A (p.Arg381His)	MAF, WWOX (R381H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 514670	NM_016373.4(WWOX):c.1143C>T (p.Arg381=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 384388	NM_016373.4(WWOX):c.1146C>T (p.Cys382=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1810593	NM_016373.4(WWOX):c.1163C>T (p.Ala388Val)	MAF, WWOX (A275V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356028	NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter)	MAF, WWOX (Q276* +1 more)	Single nucleotide variant (nonsense)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 415951	NM_016373.4(WWOX):c.1170C>T (p.Ser390=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 838781	NM_016373.4(WWOX):c.1172A>G (p.Glu391Gly)	MAF, WWOX (E391G +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 410084	NM_016373.4(WWOX):c.1178C>T (p.Thr393Met)	MAF, WWOX (T393M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 382145	NM_016373.4(WWOX):c.1179G>A (p.Thr393=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 645483	NM_016373.4(WWOX):c.1184G>A (p.Arg395Gln)	MAF, WWOX (R395Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1204274	NM_016373.4(WWOX):c.1185G>C (p.Arg395=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 586943	NM_016373.4(WWOX):c.1196C>T (p.Ala399Val)	MAF, WWOX (A399V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 512201	NM_016373.4(WWOX):c.1197G>T (p.Ala399=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 384616	NM_016373.4(WWOX):c.1197G>A (p.Ala399=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +3 more	GBenign/Likely benign
Select item 383113	NM_016373.4(WWOX):c.1203C>T (p.Ser401=)	WWOX, MAF	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 453107	NM_016373.4(WWOX):c.1207_1208del (p.Arg403fs)	MAF, WWOX (R403fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 449787	NM_016373.4(WWOX):c.1204G>A (p.Glu402Lys)	MAF, WWOX (E402K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 449683	NM_016373.4(WWOX):c.1204G>T (p.Glu402Ter)	MAF, WWOX (E402* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 433132	NM_016373.4(WWOX):c.1222C>T (p.Arg408Trp)	WWOX, MAF (R408W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 506528	NM_016373.4(WWOX):c.1228G>T (p.Gly410Cys)	MAF, WWOX (G410C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 241099	NM_016373.4(WWOX):c.1238C>A (p.Ser413Tyr)	MAF, WWOX (S413Y +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +4 more	GBenign
Select item 241100	NM_016373.4(WWOX):c.1239C>T (p.Ser413=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +4 more	GBenign/Likely benign
Select item 449677	NM_016373.4(WWOX):c.1240G>A (p.Gly414Ser)	MAF, WWOX (G414S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 390019	NM_016373.4(WWOX):c.*1G>C	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 382759	NM_016373.4(WWOX):c.*3G>T	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	Developmental and epileptic encephalopathy, 28 +3 more	GBenign
Select item 1188780	NM_016373.4(WWOX):c.*14C>T	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 382921	NM_016373.4(WWOX):c.*15G>A	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 387001	NM_016373.4(WWOX):c.*18T>C	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1213448	NM_016373.4(WWOX):c.*33G>A	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1219895	NM_016373.4(WWOX):c.*53C>A	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1295954	NM_016373.4(WWOX):c.*72C>T	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1183024	NM_016373.4(WWOX):c.*93A>G	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1206910	NM_016373.4(WWOX):c.*97A>G	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1247128	NM_016373.4(WWOX):c.*127G>T	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 1231448	NM_016373.4(WWOX):c.184_188dup	MAF, WWOX	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 449268	NM_016373.4(WWOX):c.*200GGGCT[1]	MAF, WWOX	Microsatellite (3 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 1247347	NM_016373.4(WWOX):c.*211G>A	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1278550	NM_016373.4(WWOX):c.*237G>C	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1234430	NM_016373.4(WWOX):c.*263C>G	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 1244788	NM_016373.4(WWOX):c.*268T>C	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 1215083	NM_016373.4(WWOX):c.*293G>A	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1193568	NM_005360.5(MAF):c.*219G>C	MAF	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1281348	NM_005360.5(MAF):c.*185G>C	MAF	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1263394	NM_005360.5(MAF):c.*176A>G	MAF	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1236763	NM_005360.5(MAF):c.*32del	MAF	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 3368814	NM_005360.5(MAF):c.1169G>A (p.Trp390Ter)	MAF (W390*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1288364	NM_005360.5(MAF):c.1119-88_1119-87del	MAF	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1245830	NM_005360.5(MAF):c.1119-87del	MAF	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1280411	NM_005360.5(MAF):c.1119-169dup	MAF	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1188727	NM_005360.5(MAF):c.1119-179C>T	MAF	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1291603	NM_005360.5(MAF):c.1118+217C>T	MAF	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1344968	NM_005360.5(MAF):c.1118+176AC[18]	MAF	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1274209	NM_005360.5(MAF):c.1118+176AC[16]	MAF	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1234541	NM_005360.5(MAF):c.1118+176AC[15]	MAF	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1207043	NM_005360.5(MAF):c.1118+176AC[17]	MAF	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1196267	NM_005360.5(MAF):c.1118+176AC[12]	MAF	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1180410	NM_005360.5(MAF):c.1118+176AC[13]	MAF	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1202104	NM_005360.5(MAF):c.1118+183_1118+184insCACG	MAF	Insertion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1217576	NM_005360.5(MAF):c.1118+67T>C	MAF	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1194516	NM_005360.5(MAF):c.1118+36A>T	MAF	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3373014	NM_005360.5(MAF):c.1079G>C (p.Gly360Ala)	MAF (G360A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312221	NM_005360.5(MAF):c.1037A>G (p.Glu346Gly)	MAF (E346G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444704	NM_005360.5(MAF):c.959A>G (p.Lys320Arg)	MAF (K320R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311969	NM_005360.5(MAF):c.898G>A (p.Gly300Ser)	MAF (G300S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364712	NM_005360.5(MAF):c.892A>T (p.Asn298Tyr)	MAF (N298Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3364040	NM_005360.5(MAF):c.866T>G (p.Leu289Arg)	MAF (L289R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662982	NM_005360.5(MAF):c.827G>C (p.Arg276Pro)	MAF (R276P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343770	NM_005360.5(MAF):c.779G>C (p.Arg260Pro)	MAF (R260P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370930	NM_005360.5(MAF):c.716_726dup (p.Gly243fs)	MAF (G243fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 474938	NM_005360.5(MAF):c.715G>A (p.Ala239Thr)	MAF (A239T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 576664	NM_005360.5(MAF):c.678CGG[10] (p.Gly237_Gly238dup)	MAF	Microsatellite (inframe_insertion)	not provided +2 more	GLikely benign
Select item 259753	NM_005360.5(MAF):c.702A>C (p.Gly234=)	MAF	Single nucleotide variant (synonymous variant)	Cataract 21 multiple types +4 more	GBenign/Likely benign
Select item 1144321	NM_005360.5(MAF):c.678CGG[7] (p.Gly238del)	MAF (G238del)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1210522	NM_005360.5(MAF):c.699C>A (p.Gly233=)	MAF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 772194	NM_005360.5(MAF):c.696C>A (p.Gly232=)	MAF	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 474936	NM_005360.5(MAF):c.611G>T (p.Gly204Val)	MAF (G204V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1311423	NM_005360.5(MAF):c.520C>G (p.Gln174Glu)	MAF (Q174E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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