Unique variants in the WWOX gene

Information The variants shown are described using the NM_016373.2 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
Legend   How to query  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 1 - c.108-12G>T r.(=) p.(=) - benign g.78142308G>T g.78108411G>T WWOX(NM_016373.3):c.108-12G>T, WWOX(NM_016373.3):c.108-12_108-11delGTinsTT - WWOX_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.173-6T>G r.(=) p.(=) - likely benign g.78143669T>G g.78109772T>G WWOX(NM_016373.3):c.173-6T>G - WWOX_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.173-1G>T r.spl p.? ACMG likely pathogenic g.78143674G>T g.78109777G>T - - WWOX_000001 - PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
+?/. 1 3 c.183C>A r.(?) p.(Tyr61*) ACMG likely pathogenic g.78143685C>A g.78109788C>A - - WWOX_000040 - PubMed: Tumienė 2018 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.214C>T r.(?) p.(Gln72Ter) - likely pathogenic g.78143716C>T - WWOX(NM_016373.3):c.214C>T (p.Q72*) - WWOX_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.222T>C r.(?) p.(Phe74=) - likely benign g.78143724T>C g.78109827T>C WWOX(NM_016373.3):c.222T>C (p.F74=) - WWOX_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.251C>G r.(?) p.(Thr84Ser) - VUS g.78148893C>G - WWOX(NM_016373.3):c.251C>G (p.T84S) - WWOX_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 3 - c.293C>T r.(?) p.(Pro98Leu) - benign g.78148935C>T g.78115038C>T WWOX(NM_016373.3):c.293C>T (p.P98L) - WWOX_000015 1 homozygous; Clinindb (India), 25 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs144601717 CLASSIFICATION record, Germline - 1/2795 individuals, 25/2795 individuals - - - VKGL-NL_Groningen, Mohammed Faruq
./. 1 - c.310C>T r.(?) p.(Arg104Trp) - VUS g.78148952C>T g.78115055C>T - - WWOX_000004 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - Dheeraj Bobbili
-?/. 1 - c.332C>G r.(?) p.(Thr111Ser) - likely benign g.78148974C>G g.78115077C>G WWOX(NM_016373.3):c.332C>G (p.T111S) - WWOX_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.358C>T r.(?) p.(Arg120Trp) - likely benign g.78149000C>T g.78115103C>T WWOX(NM_016373.3):c.358C>T (p.R120W) - WWOX_000017 2 homozygous; Clinindb (India), 77 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs141361080 CLASSIFICATION record, Germline - 2/2795 individuals, 77/2795 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
?/. 1 - c.406A>G r.(?) p.(Ile136Val) - VUS g.78149048A>G g.78115151A>G WWOX(NM_016373.3):c.406A>G (p.I136V) - WWOX_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.409+1G>T r.spl? p.? ACMG likely pathogenic g.78149052G>T g.78115155G>T - - WWOX_000002 - PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
?/. 1 - c.410G>T r.(?) p.(Gly137Val) - VUS g.78198080G>T - WWOX(NM_016373.3):c.410G>T (p.G137V) - WWOX_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.421G>A r.(?) p.(Ala141Thr) - likely benign, VUS g.78198091G>A g.78164194G>A WWOX(NM_016373.3):c.421G>A (p.A141T) - WWOX_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.480G>A r.(?) p.(Arg160=) - likely benign g.78198150G>A g.78164253G>A WWOX(NM_016373.3):c.480G>A (p.R160=) - WWOX_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.516+6T>C r.(=) p.(=) - benign g.78198192T>C g.78164295T>C - - WWOX_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.517-108260C>A r.(=) p.(=) - benign g.78312497C>A g.78278600C>A WWOX(NM_016373.3):c.517-108260C>A - WWOX_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 2 - c.517-108230A>G r.(=) p.(=) - benign, likely benign g.78312527A>G g.78278630A>G WWOX(NM_130791.3):c.544A>G (p.K182E) - WWOX_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.517-3C>A r.spl? p.? - likely benign g.78420754C>A g.78386857C>A - - WWOX_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., ?/. 2 - c.535G>A r.(?) p.(Ala179Thr) - benign, VUS g.78420775G>A g.78386878G>A WWOX(NM_016373.3):c.535G>A (p.A179T) - WWOX_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.605+6_605+18del r.(=) p.(=) - VUS g.78420851_78420863del g.78386954_78386966del WWOX(NM_016373.2):c.605+3_605+15del (p.?) - WWOX_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.606-17G>A r.(=) p.(=) - benign g.78458750G>A g.78424853G>A WWOX(NM_016373.3):c.606-17G>A - WWOX_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 2 - c.606-1G>A r.spl, r.spl? p.? ACMG likely pathogenic, pathogenic g.78458766G>A g.78424869G>A - - WWOX_000039 ACMG PVS1, PM2, PP1, VKGL data sharing initiative Nederland PubMed: Anazi 2017 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
-/. 1 - c.613C>A r.(?) p.(His205Asn) - benign g.78458774C>A g.78424877C>A WWOX(NM_016373.3):c.613C>A (p.H205N) - WWOX_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.635C>T r.(?) p.(Ala212Val) - VUS g.78458796C>T g.78424899C>T - - WWOX_000005 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs202006159 Germline - 1/567 controls - - - Dheeraj Bobbili
?/. 1 - c.637A>T r.(?) p.(Thr213Ser) - VUS g.78458798A>T g.78424901A>T WWOX(NM_016373.3):c.637A>T (p.T213S) - WWOX_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.689A>C r.(?) p.(Gln230Pro) - VUS g.78458850A>C g.78424953A>C WWOX(NM_016373.3):c.689A>C (p.Q230P) - WWOX_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., ?/. 2 - c.716T>G r.(?) p.(Leu239Arg) - pathogenic, VUS g.78458877T>G g.78424980T>G WWOX(NM_016373.2):c.716T>G (p.(Leu239Arg)) - WWOX_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Leiden, IMGAG
+?/. 1 7 c.735dup r.(?) p.(Val246CysfsTer24) - likely pathogenic g.78458896dup g.78424999dup c.735dupT - WWOX_000059 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
-?/., ./. 2 - c.754C>G r.(?) p.(Pro252Ala) - likely benign, VUS g.78458915C>G g.78425018C>G WWOX(NM_016373.3):c.754C>G (p.P252A) - WWOX_000006 VKGL data sharing initiative Nederland PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs75559202 CLASSIFICATION record, Germline - 1/194 cases RE - - - Dheeraj Bobbili, VKGL-NL_Utrecht
-?/. 1 - c.798A>C r.(?) p.(Thr266=) - likely benign g.78466391A>C g.78432494A>C WWOX(NM_016373.3):c.798A>C (p.T266=) - WWOX_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.807C>T r.(?) p.(Asn269=) - likely benign g.78466400C>T g.78432503C>T WWOX(NM_016373.3):c.807C>T (p.N269=) - WWOX_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.816G>T r.(?) p.(Leu272Phe) - likely benign g.78466409G>T g.78432512G>T WWOX(NM_016373.3):c.816G>T (p.L272F) - WWOX_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.835C>T r.(?) p.(Arg279Cys) - benign g.78466428C>T g.78432531C>T WWOX(NM_016373.3):c.835C>T (p.R279C) - WWOX_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.876T>C r.(?) p.(Ala292=) - likely benign g.78466469T>C g.78432572T>C WWOX(NM_016373.3):c.876T>C (p.A292=) - WWOX_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.888C>G r.(?) p.(Ser296=) - likely benign g.78466481C>G - WWOX(NM_016373.3):c.888C>G (p.S296=) - WWOX_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.915C>T r.(?) p.(Asn305=) - likely benign g.78466508C>T g.78432611C>T WWOX(NM_016373.3):c.915C>T (p.N305=) - WWOX_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 5 c.918del r.(?) p.(Glu306Aspfs*21) ACMG likely pathogenic g.78466511del g.78432614del 918delG - WWOX_000003 - PubMed: Trujillano 2017, PubMed: Tumienė 2018 - - Germline - - - - - Johan den Dunnen, Daniel Trujillano
?/. 1 - c.928C>T r.(?) p.(Arg310Cys) - VUS g.78466521C>T - WWOX(NM_016373.3):c.928C>T (p.R310C) - WWOX_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.933C>G r.(?) p.(Leu311=) - likely benign g.78466526C>G g.78432629C>G WWOX(NM_016373.3):c.933C>G (p.L311=) - WWOX_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.946G>C r.(?) p.(Val316Leu) - VUS g.78466539G>C g.78432642G>C - - WWOX_000007 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs201941494 Germline - 1/567 controls - - - Dheeraj Bobbili
./. 1 - c.990C>G r.(?) p.(Asn330Lys) - VUS g.78466583C>G g.78432686C>G - - WWOX_000008 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs117209694 Germline - 1/194 cases RE - - - Dheeraj Bobbili
?/. 1 - c.998G>A r.(?) p.(Arg333His) - VUS g.78466591G>A g.78432694G>A - - WWOX_000050 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs184773837 Germline - 1/2795 individuals - - - Mohammed Faruq
?/. 1 - c.1006T>G r.(?) p.(Trp336Gly) - VUS g.78466599T>G g.78432702T>G WWOX(NM_016373.2):c.1006T>G (p.(Trp336Gly)) - WWOX_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1029C>G r.(?) p.(Thr343=) - likely benign g.78466622C>G g.78432725C>G WWOX(NM_016373.3):c.1029C>G (p.T343=) - WWOX_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1035G>A r.(?) p.(Ala345=) - likely benign g.78466628G>A g.78432731G>A WWOX(NM_016373.3):c.1035G>A (p.A345=, p.=) - WWOX_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.1057-4C>T r.spl? p.? - likely benign g.79245501C>T g.79211604C>T WWOX(NM_016373.2):c.1057-4C>T (p.?) - WWOX_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 5i_8i c.(516+1_5171)_(1056+1_1057-1)dup r.? p.? - VUS g.? - Large dup - CRYM_000000 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1108G>A r.(?) p.(Gly370Ser) - likely benign g.79245556G>A g.79211659G>A WWOX(NM_016373.2):c.1108G>A (p.(Gly370Ser)) - WWOX_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 2 - c.1134C>T r.(?) p.(Asn378=) - benign, likely benign g.79245582C>T g.79211685C>T WWOX(NM_016373.3):c.1134C>T (p.N378=) - WWOX_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
./., ?/. 2 - c.1142G>A r.(?) p.(Arg381His) - VUS g.79245590G>A g.79211693G>A WWOX(NM_016373.3):c.1142G>A (p.R381H) - WWOX_000009 VKGL data sharing initiative Nederland PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs202002431 CLASSIFICATION record, Germline - 1/567 controls - - - VKGL-NL_Rotterdam, Dheeraj Bobbili
-?/., ./. 3 - c.1178C>T r.(?) p.(Thr393Met) - likely benign, VUS g.79245626C>T g.79211729C>T WWOX(NM_016373.3):c.1178C>T (p.T393M) - WWOX_000010 VKGL data sharing initiative Nederland PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs139253468 CLASSIFICATION record, Germline - 1/567 controls - - - VKGL-NL_Rotterdam, Dheeraj Bobbili, VKGL-NL_Utrecht
-?/. 2 - c.1197G>A r.(?) p.(Ala399=) - likely benign g.79245645G>A g.79211748G>A WWOX(NM_016373.3):c.1197G>A (p.A399=) - WWOX_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
./., ?/. 3 - c.1204G>A r.(?) p.(Glu402Lys) - VUS g.79245652G>A g.79211755G>A WWOX(NM_016373.3):c.1204G>A (p.E402K) - WWOX_000011 VKGL data sharing initiative Nederland PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs200839945 CLASSIFICATION record, Germline - 2/567 controls - - - VKGL-NL_Rotterdam, Dheeraj Bobbili
+?/. 1 - c.1204G>T r.(?) p.(Glu402Ter) - likely pathogenic g.79245652G>T - - - WWOX_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 1 - c.1222C>T r.(?) p.(Arg408Trp) - VUS g.79245670C>T g.79211773C>T - - WWOX_000012 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs144234059 Germline - 1/194 cases RE - - - Dheeraj Bobbili
-/. 1 - c.1238C>A r.(?) p.(Ser413Tyr) - benign g.79245686C>A g.79211789C>A - - WWOX_000051 27 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117065412 Germline - 27/2794 individuals - - - Mohammed Faruq
-/., -?/. 2 - c.1239C>T r.(?) p.(=), p.(Ser413=) - benign, likely benign g.79245687C>T g.79211790C>T WWOX(NM_016373.3):c.1239C>T (p.S413=) - WWOX_000041 VKGL data sharing initiative Nederland PubMed: van Rootselaar 2017 - - CLASSIFICATION record, Germline no - - - - Johan den Dunnen, VKGL-NL_Rotterdam
Legend   How to query