Related gene-specific medical variations for Gene (Select 4094) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3025376	NM_016373.4(WWOX):c.*162G>C	MAF, WWOX (E313Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2946373	NM_016373.4(WWOX):c.1130A>G (p.Asn377Ser)	WWOX, MAF (N264S +1 more)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 2945483	NM_016373.4(WWOX):c.1230C>A (p.Gly410=)	MAF, WWOX (A254E)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2940449	NM_016373.4(WWOX):c.1057-9G>C	MAF, WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2939550	NM_016373.4(WWOX):c.1083C>T (p.Tyr361=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2939533	NM_016373.4(WWOX):c.1113G>A (p.Leu371=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2936752	NM_016373.4(WWOX):c.1057-14_1057-13insTCTC	MAF, WWOX	Insertion (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2934306	NM_016373.4(WWOX):c.1189C>T (p.Leu397=)	MAF, WWOX (P241L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2932169	NM_016373.4(WWOX):c.1057-7T>C	MAF, WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2931344	NM_016373.4(WWOX):c.1057-13_1057-11del	MAF, WWOX	Microsatellite (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2926732	NM_016373.4(WWOX):c.1236G>A (p.Gln412=)	MAF, WWOX (S256N)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2646889	NM_016373.4(WWOX):c.*134C>T	MAF, WWOX	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2646888	NM_016373.4(WWOX):c.*107G>A	WWOX, MAF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646887	NM_016373.4(WWOX):c.1122G>T (p.Met374Ile)	MAF, WWOX (M261I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2584595	NM_005360.5(MAF):c.860T>G (p.Ile287Ser)	MAF (I287S)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 2578769	NM_016373.4(WWOX):c.*46C>T	MAF, WWOX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2438615	NM_016373.4(WWOX):c.1060C>T (p.Gln354Ter)	MAF, WWOX (Q241* +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433601	NM_005360.5(MAF):c.442G>T (p.Ala148Ser)	MAF (A148S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2197039	NM_016373.4(WWOX):c.1183C>A (p.Arg395=)	MAF, WWOX (P239Q)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2183678	NM_016373.4(WWOX):c.1057-10G>C	MAF, WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2164882	NM_016373.4(WWOX):c.1203C>G (p.Ser401Arg)	MAF, WWOX (S245R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 2143833	NM_016373.4(WWOX):c.1057-20C>T	MAF, WWOX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2130348	NM_016373.4(WWOX):c.1232G>C (p.Ser411Thr)	MAF, WWOX (A255P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 2103855	NM_016373.4(WWOX):c.1067C>T (p.Ala356Val)	MAF, WWOX (A243V +1 more)	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2091177	NM_016373.4(WWOX):c.1245A>C (p.Ter415Tyr)	MAF, WWOX (K259T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2056946	NM_016373.4(WWOX):c.1102C>T (p.Leu368=)	MAF, WWOX (T212I)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2050202	NM_016373.4(WWOX):c.1218A>G (p.Gln406=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2040940	NM_016373.4(WWOX):c.1178C>G (p.Thr393Arg)	MAF, WWOX (D237E +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 2027731	NM_016373.4(WWOX):c.1119G>C (p.Gly373=)	MAF, WWOX (D218H)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2026794	NM_016373.4(WWOX):c.1057-22_1057-19del	MAF, WWOX	Deletion (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2022047	NM_016373.4(WWOX):c.1059A>C (p.Gln353His)	MAF, WWOX (Q353H +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2007335	NM_016373.4(WWOX):c.1182C>G (p.Ala394=)	MAF, WWOX (P239A)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2005311	NM_016373.4(WWOX):c.1242del (p.Ter415LysextTer?)	MAF, WWOX	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1975886	NM_016373.4(WWOX):c.1103T>G (p.Leu368Arg)	MAF, WWOX (L255R +1 more)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1905071	NM_016373.4(WWOX):c.1069G>A (p.Ala357Thr)	MAF, WWOX (A244T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1901906	NM_016373.4(WWOX):c.1110T>G (p.Gly370=)	MAF, WWOX (S215A)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1810593	NM_016373.4(WWOX):c.1163C>T (p.Ala388Val)	MAF, WWOX (A275V +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1720623	NM_016373.4(WWOX):c.1112T>G (p.Leu371Arg)	MAF, WWOX (L258R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1717306	NM_016373.4(WWOX):c.1156C>T (p.Pro386Ser)	MAF, WWOX (P273S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1700190	NM_016373.4(WWOX):c.1129AAC[1] (p.Asn378del)	MAF, WWOX (N265del +1 more)	Microsatellite (inframe_deletion)	Neurodevelopmental delay	GPathogenic
Select item 1691349	NM_016373.4(WWOX):c.1200_1244dup (p.415Tyrext15)	MAF, WWOX	Duplication (inframe_insertion)	Progressive myositis ossificans	GUncertain significance
Select item 1683687	NM_016373.4(WWOX):c.1223G>T (p.Arg408Leu)	MAF, WWOX (R295L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +3 more	GUncertain significance
Select item 1679613	NM_005360.5(MAF):c.487G>C (p.Val163Leu)	MAF (V163L)	Single nucleotide variant (missense variant)	Ayme-Gripp syndrome	GUncertain significance
Select item 1675635	NM_016373.4(WWOX):c.150_154dup	MAF, WWOX	Duplication (3 prime UTR variant)	not provided	GUncertain significance
Select item 1675634	NM_016373.4(WWOX):c.*53C>T	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1671667	NM_016373.4(WWOX):c.1242C>T (p.Gly414=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 1661153	NM_016373.4(WWOX):c.1057-22_1057-20del	MAF, WWOX	Deletion (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 1655305	NM_016373.4(WWOX):c.1057-17_1057-14del	MAF, WWOX	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1647358	NM_016373.4(WWOX):c.1077C>G (p.Thr359=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 1645516	NM_016373.4(WWOX):c.1057-18T>G	MAF, WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 1586407	NM_016373.4(WWOX):c.1128C>T (p.Phe376=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1579192	NM_016373.4(WWOX):c.1206G>A (p.Glu402=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1579058	NM_016373.4(WWOX):c.1209G>A (p.Arg403=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1544373	NM_016373.4(WWOX):c.1227T>C (p.Leu409=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 1517395	NM_016373.4(WWOX):c.1183C>T (p.Arg395Trp)	MAF, WWOX (R395W +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 1494098	NM_016373.4(WWOX):c.1244A>C (p.Ter415Ser)	MAF, WWOX	Single nucleotide variant (stop lost)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1492251	NM_016373.4(WWOX):c.1183C>G (p.Arg395Gly)	MAF, WWOX (R282G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1479488	NM_016373.4(WWOX):c.1176G>T (p.Glu392Asp)	MAF, WWOX (E279D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1474460	NM_016373.4(WWOX):c.1142G>C (p.Arg381Pro)	MAF, WWOX (R268P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1472765	NM_016373.4(WWOX):c.1109G>A (p.Gly370Asp)	MAF, WWOX (G257D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1465480	NM_016373.4(WWOX):c.1141C>A (p.Arg381Ser)	MAF, WWOX (R268S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1436911	NM_016373.4(WWOX):c.1088C>G (p.Ala363Gly)	MAF, WWOX (A363G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1432253	NM_016373.4(WWOX):c.1175A>T (p.Glu392Val)	MAF, WWOX (E279V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1425648	NM_016373.4(WWOX):c.1057-9_1057-6dup	MAF, WWOX	Duplication (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1423818	NM_016373.4(WWOX):c.1122G>A (p.Met374Ile)	MAF, WWOX (M374I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1422971	NM_016373.4(WWOX):c.1226T>C (p.Leu409Pro)	MAF, WWOX (L409P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1418567	NM_016373.4(WWOX):c.1057-2A>G	MAF, WWOX	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1391640	NM_016373.4(WWOX):c.1148T>C (p.Met383Thr)	MAF, WWOX (M383T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1390703	NM_016373.4(WWOX):c.1114G>A (p.Gly372Arg)	MAF, WWOX (G372R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1385440	NM_016373.4(WWOX):c.1073C>G (p.Thr358Ser)	MAF, WWOX (T245S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1381921	NM_016373.4(WWOX):c.1171G>C (p.Glu391Gln)	MAF, WWOX (E278Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1381570	NM_016373.4(WWOX):c.1057C>T (p.Gln353Ter)	MAF, WWOX (Q353* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 1 +1 more	GPathogenic
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 1355450	NM_016373.4(WWOX):c.1216C>G (p.Gln406Glu)	MAF, WWOX (Q293E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1347485	NM_016373.4(WWOX):c.1205A>G (p.Glu402Gly)	MAF, WWOX (E402G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1336809	NM_016373.4(WWOX):c.1178C>A (p.Thr393Lys)	MAF, WWOX (T280K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336332	NM_016373.4(WWOX):c.1152C>G (p.Pro384=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1334431	NM_016373.4(WWOX):c.1063G>C (p.Gly355Arg)	MAF, WWOX (G242R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 28	GLikely pathogenic
Select item 1329854	NM_016373.4(WWOX):c.1171G>T (p.Glu391Ter)	MAF, WWOX (E278* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GPathogenic
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 1295954	NM_016373.4(WWOX):c.*72C>T	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 1251859	NM_005360.5(MAF):c.-780T>G	LOC121587563, MAF	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1247347	NM_016373.4(WWOX):c.*211G>A	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1247128	NM_016373.4(WWOX):c.*127G>T	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1244788	NM_016373.4(WWOX):c.*268T>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 provided	GBenign
Select item 1231448	NM_016373.4(WWOX):c.184_188dup	MAF, WWOX	Duplication (3 prime UTR variant)	not provided	GBenign
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 1215083	NM_016373.4(WWOX):c.*293G>A	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not provided	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 1206910	NM_016373.4(WWOX):c.*97A>G	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1204274	NM_016373.4(WWOX):c.1185G>C (p.Arg395=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1196626	NM_005360.5(MAF):c.-759C>T	LOC121587563, MAF	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1189403	NM_016373.4(WWOX):c.1057-23dup	MAF, WWOX	Duplication (intron variant)	not provided	GLikely benign
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 1184399	NM_005360.5(MAF):c.743C>A (p.Pro248Gln)	MAF (P248Q)	Single nucleotide variant (missense variant)	Ayme-Gripp syndrome	GUncertain significance
Select item 1183518	NM_016373.4(WWOX):c.1057-247T>C	MAF, WWOX	Single nucleotide variant (intron 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 1104272	NM_016373.4(WWOX):c.1230C>G (p.Gly410=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign

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