ClinVar for MedGen (Select 863956) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579203	GRCh38/hg38 16q23.1(chr16:78330637-78461650)x0	LOC112486209, LOC132090435 +1 more	Copy number loss	Developmental and epileptic encephalopathy, 28	GUncertain significance
Select item 2579165	GRCh38/hg38 16q23.1(chr16:78099236-78100272)x0	WWOX	Copy number loss	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 2500714	NM_016373.4(WWOX):c.982_998del (p.Tyr328fs)	WWOX (Y215fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 2500713	NM_016373.4(WWOX):c.606-1778_792-2744del	LOC112486209, LOC132090435 +1 more	Deletion (splice acceptor variant +1 more)	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 2498155	NM_016373.4:c.517-94998_1056+78427del	LOC110120570, LOC112486209 +5 more	Deletion	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 2099038	NM_016373.4(WWOX):c.552dup (p.Ala185fs)	WWOX (A185fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 28 +2 more	GPathogenic
Select item 1810421	Single allele	WWOX	Deletion	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 1727234	NM_016373.4(WWOX):c.461C>A (p.Ala154Asp)	WWOX (A154D +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 28	GUncertain significance
Select item 1707593	NM_016373.4(WWOX):c.172+5G>A	WWOX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 28	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 1676782	NM_016373.4(WWOX):c.172+1G>C	WWOX	Single nucleotide variant (splice donor variant +1 more)	Developmental and epileptic encephalopathy, 28 +1 more	GPathogenic
Select item 1383452	NM_016373.4(WWOX):c.500G>A (p.Arg167His)	WWOX (R167H +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 28 +2 more	GUncertain significance
Select item 1341791	NC_000016.10:g.77893032_78561479dup	CLEC3A, LOC110120570 +32 more	Duplication	Developmental and epileptic encephalopathy, 28	GUncertain significance
Select item 1339503	NM_016373.4(WWOX):c.929G>C (p.Arg310Pro)	WWOX (R197P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 28	GLikely pathogenic
Select item 1339502	NC_000016.9:g.78159969_78320350del	WWOX	Deletion	Developmental and epileptic encephalopathy, 28	GLikely pathogenic
Select item 1339501	NM_016373.4(WWOX):c.409+1G>T	WWOX	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 1338793	NM_016373.4:c.(516+1_517-1)_(605+1_606-1)del	WWOX	Deletion	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 1338792	NM_016373.4(WWOX):c.49G>A (p.Glu17Lys)	WWOX (E17K)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +2 more	GConflicting classifications of pathogenicity
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 1318555	NM_016373.4(WWOX):c.926G>A (p.Arg309His)	WWOX (R196H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +4 more	GUncertain significance
Select item 1191212	NM_016373.4(WWOX):c.108-14_108-13dup	WWOX	Duplication (intron variant)	Developmental and epileptic encephalopathy, 28 +3 more	GBenign/Likely benign
Select item 1187712	NM_016373.4(WWOX):c.107+252C>T	WWOX	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +3 more	GLikely benign
Select item 1067495	NM_016373.4(WWOX):c.605_605+3del	WWOX	Microsatellite (splice donor variant)	Autosomal recessive spinocerebellar ataxia 12 +3 more	GLikely pathogenic
Select item 1033412	NM_016373.4(WWOX):c.730C>T (p.Gln244Ter)	WWOX (Q244* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1033411	NM_016373.4(WWOX):c.*15G>T	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 1029448	NM_016373.4(WWOX):c.325G>A (p.Gly109Ser)	WWOX (G109S)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 28 +2 more	GUncertain significance
Select item 978033	NC_000016.10:g.78152047_78188346del	LOC132090430, WWOX	Deletion	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 976436	NM_016373.4(WWOX):c.184G>T (p.Gly62Ter)	WWOX (G62*)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 953615	NM_016373.4(WWOX):c.989A>G (p.Asn330Ser)	WWOX (N330S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +2 more	GUncertain significance
Select item 931770	NM_016373.4(WWOX):c.791+18A>T	WWOX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 28	GUncertain significance
Select item 931445	NM_016373.4(WWOX):c.16T>C (p.Tyr6His)	WWOX (Y6H)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 28	GUncertain significance
Select item 931133	NM_016373.4(WWOX):c.517C>T (p.His173Tyr)	WWOX (H60Y +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 28	GUncertain significance
Select item 915975	GRCh37/hg19 16q23.1(chr16:78458767-78458953)	WWOX	Copy number loss	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 871669	NM_016373.4(WWOX):c.716T>G (p.Leu239Arg)	WWOX (L239R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 849697	NM_016373.4(WWOX):c.59C>T (p.Pro20Leu)	WWOX (P20L)	Single nucleotide variant (5 prime UTR variant +2 more)	Malignant tumor of esophagus +5 more	GUncertain significance
Select item 813767	NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)	WWOX (Q117P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +7 more	GPathogenic/Likely pathogenic
Select item 813331	GRCh37/hg19 16q23.1(chr16:78198080-78198186)	WWOX	Copy number loss	Developmental and epileptic encephalopathy, 28	GLikely pathogenic
Select item 804478	NM_016373.4(WWOX):c.108-2A>T	WWOX	Single nucleotide variant (splice acceptor variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +2 more	GLikely pathogenic
Select item 803276	NM_016373.4(WWOX):c.705dup (p.His236fs)	WWOX (H123fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 1 +2 more	GPathogenic
Select item 689796	NM_016373.4(WWOX):c.107+1G>A	WWOX	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 676824	NM_016373.4(WWOX):c.108-13dup	WWOX	Duplication (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +3 more	GBenign
Select item 670869	NM_016373.4(WWOX):c.1057-40T>C	MAF, WWOX	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 662024	NM_016373.4(WWOX):c.746G>A (p.Arg249His)	WWOX (R249H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 28 +4 more	GUncertain significance
Select item 635056	NM_016373.4(WWOX):c.410G>T (p.Gly137Val)	WWOX (G137V +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 28	GUncertain significance
Select item 626053	NM_016373.4(WWOX):c.517-108243C>T	WWOX	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +2 more	GUncertain significance
Select item 625820	GRCh37/hg19 16q23.1(chr16:78458774-78463512)	WWOX	Copy number loss	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 625676	GRCh37/hg19 16q23.1(chr16:78409180-78431277)	WWOX	Copy number loss	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 625675	GRCh37/hg19 16q23.1(chr16:78143268-78154701)	WWOX	Copy number loss	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 578011	NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr)	WWOX (S312Y +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +4 more	GUncertain significance
Select item 574528	NM_016373.4(WWOX):c.953C>T (p.Ser318Leu)	WWOX (S318L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +3 more	GConflicting classifications of pathogenicity
Select item 571630	NM_016373.4(WWOX):c.173-6T>G	WWOX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +4 more	GConflicting classifications of pathogenicity
Select item 570205	NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln)	MAF, WWOX (R408Q +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of esophagus +3 more	GUncertain significance
Select item 569507	NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr)	WWOX (P347T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +3 more	GUncertain significance
Select item 546463	NM_016373.4(WWOX):c.341T>C (p.Met114Thr)	WWOX (M114T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 540245	NM_016373.4(WWOX):c.228T>C (p.Val76=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +2 more	GConflicting classifications of pathogenicity
Select item 540231	NM_016373.4(WWOX):c.562C>T (p.Arg188Cys)	WWOX (R188C +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 512975	NM_016373.4(WWOX):c.747C>G (p.Arg249=)	WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +4 more	GBenign/Likely benign
Select item 495112	NM_016373.4(WWOX):c.791+1G>A	WWOX	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 28	GLikely pathogenic
Select item 493191	NM_016373.4(WWOX):c.107+2_107+5del	WWOX	Deletion (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 28 +1 more	GLikely pathogenic
Select item 473036	NM_016373.4(WWOX):c.946G>C (p.Val316Leu)	WWOX (V316L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 473027	NM_016373.4(WWOX):c.535G>T (p.Ala179Ser)	WWOX (A179S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 28 +4 more	GConflicting classifications of pathogenicity
Select item 473024	NM_016373.4(WWOX):c.406A>G (p.Ile136Val)	WWOX (I136V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +3 more	GConflicting classifications of pathogenicity
Select item 450592	NM_016373.4(WWOX):c.605+5G>A	WWOX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 28 +3 more	GConflicting classifications of pathogenicity
Select item 449920	NM_016373.4(WWOX):c.214C>T (p.Gln72Ter)	WWOX (Q72*)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +3 more	GPathogenic/Likely pathogenic
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 444378	NM_016373.4(WWOX):c.410G>A (p.Gly137Glu)	WWOX (G137E +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 1 +2 more	GConflicting classifications of pathogenicity
Select item 433131	NM_016373.4(WWOX):c.990C>G (p.Asn330Lys)	WWOX (N330K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +4 more	GUncertain significance
Select item 432543	NM_016373.4(WWOX):c.499C>T (p.Arg167Cys)	WWOX (R167C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 426546	NM_016373.4(WWOX):c.591C>G (p.Phe197Leu)	WWOX (F197L +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of esophagus +4 more	GUncertain significance
Select item 420383	NM_016373.4(WWOX):c.108-6dup	WWOX	Duplication (intron variant)	Developmental and epileptic encephalopathy, 28 +3 more	GBenign/Likely benign
Select item 419900	NM_016373.4(WWOX):c.108-12del	WWOX	Deletion (intron variant)	Developmental and epileptic encephalopathy, 28 +3 more	GBenign
Select item 415952	NM_016373.4(WWOX):c.468G>T (p.Arg156Ser)	WWOX (R156S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +4 more	GBenign/Likely benign
Select item 415948	NM_016373.4(WWOX):c.807C>T (p.Asn269=)	WWOX	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 410095	NM_016373.4(WWOX):c.995A>C (p.His332Pro)	WWOX (H332P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +2 more	GUncertain significance
Select item 410092	NM_016373.4(WWOX):c.409+1G>C	WWOX	Single nucleotide variant (splice donor variant)	Autosomal recessive spinocerebellar ataxia 12 +2 more	GPathogenic/Likely pathogenic
Select item 410086	NM_016373.4(WWOX):c.562C>A (p.Arg188Ser)	WWOX (R188S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 387873	NM_016373.4(WWOX):c.669T>C (p.Asp223=)	WWOX	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 387105	NM_016373.4(WWOX):c.618G>A (p.Val206=)	WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +3 more	GBenign/Likely benign
Select item 385633	NM_016373.4(WWOX):c.517-17A>G	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +3 more	GBenign/Likely benign
Select item 384940	NM_016373.4(WWOX):c.888C>G (p.Ser296=)	WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +4 more	GBenign
Select item 384616	NM_016373.4(WWOX):c.1197G>A (p.Ala399=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +3 more	GBenign/Likely benign
Select item 383964	NM_016373.4(WWOX):c.107+18G>A	WWOX	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +3 more	GBenign/Likely benign
Select item 383820	NM_016373.4(WWOX):c.332C>G (p.Thr111Ser)	WWOX (T111S)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 28 +3 more	GConflicting classifications of pathogenicity
Select item 383124	NM_016373.4(WWOX):c.1134C>T (p.Asn378=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely 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 382727	NM_016373.4(WWOX):c.876T>C (p.Ala292=)	WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +4 more	GBenign
Select item 382683	NM_016373.4(WWOX):c.876T>G (p.Ala292=)	WWOX	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 380943	NM_016373.4(WWOX):c.754C>G (p.Pro252Ala)	WWOX (P252A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +3 more	GBenign
Select item 373951	NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter)	WWOX (Y61*)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 28	GLikely pathogenic
Select item 373950	NM_016373.4(WWOX):c.918del (p.Glu306fs)	WWOX (E193fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 1 +2 more	GPathogenic/Likely pathogenic
Select item 281211	NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile)	NCF2 (N419I +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 28 +3 more	GBenign/Likely benign
Select item 260746	NM_016373.4(WWOX):c.941G>A (p.Arg314His)	WWOX (R314H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 28 +4 more	GBenign
Select item 260745	NM_016373.4(WWOX):c.844C>G (p.Pro282Ala)	WWOX (P282A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 28 +3 more	GBenign
Select item 260744	NM_016373.4(WWOX):c.646C>G (p.Leu216Val)	WWOX (L216V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +3 more	GBenign
Select item 260743	NM_016373.4(WWOX):c.613C>A (p.His205Asn)	WWOX (H205N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 28 +4 more	GBenign/Likely benign
Select item 260742	NM_016373.4(WWOX):c.606-17G>A	WWOX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 28 +3 more	GBenign
Select item 260741	NM_016373.4(WWOX):c.547G>A (p.Asp183Asn)	WWOX (D183N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 28 +3 more	GBenign
Select item 260740	NM_016373.4(WWOX):c.535G>A (p.Ala179Thr)	WWOX (A179T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 28 +5 more	GBenign
Select item 260739	NM_016373.4(WWOX):c.516+6T>C	WWOX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 28 +4 more	GBenign

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