All variants in the ZEB1 gene

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

79 entries on 1 page. Showing entries 1 - 79.
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Effect     

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_9_ c.0 r.0 p.0 - pathogenic (dominant) g.29277299_32553577del - - - ZEB1_000000 - PubMed: Liskova 2016, Journal: Liskova 2016 - - Germline yes - - - - Cerys Evans
+/. _1_9_ c.0 r.0 p.0 - pathogenic (dominant) g.(31298325_31350494)_(32214122_32285574)del - - - ZEB1_000000 - PubMed: Liskova 2016, Journal: Liskova 2016 - - Germline/De novo (untested) ? - - - - Cerys Evans
+/. - c.1A>G r.(?) p.(Met1?) - pathogenic g.31608164A>G g.31319235A>G - - ZEB1_000012 - PubMed: Vincent 2009 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.2T>G r.(?) p.(Met1?) - pathogenic g.31608165T>G g.31319236T>G - - ZEB1_000013 - PubMed: Aldave 2007 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.3G>T r.(?) p.(Met1?) - pathogenic g.31608166G>T g.31319237G>T - - ZEB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.15del r.(?) p.(Arg6GlyfsTer22) - VUS g.31608178del g.31319249del ZEB1(NM_001128128.2):c.-2280del (p.(=)) - ZEB1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.17G>A r.(?) p.(Arg6Lys) - likely benign g.31608180G>A - ZEB1(NM_030751.5):c.17G>A (p.(Arg6Lys)) - ZEB1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.34C>T r.(?) p.(Gln12*) - pathogenic g.31608197C>T g.31319268C>T - - ZEB1_000015 - PubMed: Aldave 2007 - - Germline/De novo (untested) - - - - - Cerys Evans
?/. - c.77_82del r.(?) p.(Val26_Val27del) - VUS g.31749984_31749989del g.31461055_31461060del ZEB1(NM_001128128.2):c.26_31delTGGTAG (p.V9_V10del), ZEB1(NM_001174096.2):c.77_82del (p.(Val26_Val27del)) - ZEB1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.77_82del r.(?) p.(Val26_Val27del) - VUS g.31749984_31749989del - ZEB1(NM_001128128.2):c.26_31delTGGTAG (p.V9_V10del), ZEB1(NM_001174096.2):c.77_82del (p.(Val26_Val27del)) - ZEB1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 2 c.101A>G r.(?) p.(Lys34Arg) - VUS g.31750008A>G g.31461079A>G 31750009A>G - ZEB1_000003 - - - - Unknown - - - - - Hyojin Chae
?/. - c.146A>T r.(?) p.(Asp49Val) - VUS g.31750053A>T - ZEB1(NM_001174093.1):c.146A>T (p.(Asp49Val)) - ZEB1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.170C>T r.(?) p.(Pro57Leu) - VUS g.31750077C>T g.31461148C>T ZEB1(NM_001128128.2):c.119C>T (p.P40L) - ZEB1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.180C>T r.(?) p.(Asp60=) - likely benign g.31750087C>T g.31461158C>T ZEB1(NM_001128128.2):c.129C>T (p.D43=) - ZEB1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.233A>C r.(?) p.(Asn78Thr) - pathogenic g.31750140A>C - ZEB1(NM_001174093.1):c.233A>C (p.(Asn78Thr)) - ZEB1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 3i_9_ c.319+28_*39555delinsACACACAC r.? p.? - pathogenic (dominant) g.31784795_31855747delinsACACACAC g.31495866_31566819delinsACACACAC - - ZEB1_000002 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Liskova 2016, Journal: Liskova 2016 - - Germline/De novo (untested) ? - - - - Cerys Evans
+/. - c.358C>T r.(?) p.(Gln120Ter) - pathogenic g.31791314C>T g.31502386C>T - - ZEB1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.449del r.(?) p.(Gly150Alafs*36) - pathogenic g.31791405del g.31502477del - - ZEB1_000018 - PubMed: Bakhtiari 2013 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.449del r.(?) p.(Gly150Alafs*36) - pathogenic g.31791405del g.31502477del - - ZEB1_000018 - PubMed: Jang 2014 - - Germline/De novo (untested) - - - - - Cerys Evans
-?/. - c.481+7G>T r.(=) p.(=) - likely benign g.31791444G>T - ZEB1(NM_001174096.2):c.484+7G>T - ZEB1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.627del r.(?) p.(Phe209Leufs*11) - pathogenic g.31799746del g.31510818del - - ZEB1_000019 - PubMed: Evans 2015 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.640C>T r.(?) p.(Gln214*) - pathogenic g.31799759C>T g.31510831C>T - - ZEB1_000020 - PubMed: Aldave 2007 - - Germline/De novo (untested) - - - - - Cerys Evans
?/. - c.650G>A r.(?) p.(Arg217His) - VUS g.31799769G>A g.31510841G>A ZEB1(NM_001128128.2):c.602G>A (p.(Arg201His)) - ZEB1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.657G>T r.(?) p.(Met219Ile) - VUS g.31799776G>T - ZEB1(NM_001323638.2):c.3G>T (p.(Met1?)) - ZEB1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.672del r.(?) p.(Gly225Glufs*7) - pathogenic g.31799791del g.31510863del - - ZEB1_000022 - PubMed: Nguyen 2010 - - Germline/De novo (untested) - - - - - Cerys Evans
-/. - c.685-15G>A r.(=) p.(=) - benign g.31803516G>A g.31514588G>A ZEB1(NM_001128128.3):c.637-15G>A - ZEB1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.685-2A>G r.spl p.(?) - pathogenic g.31803529A>G g.31514601A>G - - ZEB1_000023 - PubMed: Evans 2015 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.689_690del r.(?) p.(His230Argfs*7) - pathogenic g.31803535_31803536del g.31514607_31514608del - - ZEB1_000024 - PubMed: Bakhtiari 2013 - - Germline/De novo (untested) - - - - - Cerys Evans
-?/. - c.696G>A r.(?) p.(Thr232=) - likely benign g.31803542G>A g.31514614G>A ZEB1(NM_001323638.1):c.42G>A (p.T14=) - ZEB1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.698dup r.(?) p.(Ser234Valfs*4) - pathogenic g.31803544dup g.31514616dup - - ZEB1_000026 - PubMed: Liskova 2013 - - Germline/De novo (untested) - - - - - Cerys Evans
-?/. - c.789T>C r.(?) p.(Ser263=) - likely benign g.31803635T>C g.31514707T>C ZEB1(NM_001128128.2):c.741T>C (p.(=)) - ZEB1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.791-6_791-3del r.spl? p.? - likely benign g.31809048_31809051del - ZEB1(NM_001174096.2):c.794-6_794-3del - ZEB1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.929dup r.(?) p.(Cys311Valfs*25) - pathogenic g.31809192dup g.31520264dup - - ZEB1_000027 - PubMed: Aldave 2007 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.973C>T r.(?) p.(Arg325*) - pathogenic g.31809236C>T g.31520308C>T - - ZEB1_000028 - PubMed: Aldave 2007 - - Germline/De novo (untested) - - - - - Cerys Evans
?/. - c.985C>T r.(?) p.(Arg329Trp) - VUS g.31809248C>T g.31520320C>T ZEB1(NM_001128128.2):c.937C>T (p.(Arg313Trp)) - ZEB1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1124del r.(?) p.(Phe375Serfs*31) - pathogenic g.31809387del g.31520459del - - ZEB1_000029 - PubMed: Liskova 2007 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.1176dup r.(?) p.(Ala393Serfs*19) - pathogenic g.31809439dup g.31520511dup - - ZEB1_000030 - PubMed: Evans 2015 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.1332_1335del r.(?) p.(Ile444Metfs*48) - pathogenic g.31809595_31809598del g.31520667_31520670del - - ZEB1_000031 - PubMed: Krafchak 2005 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.1348C>T r.(?) p.(Gln450*) - pathogenic g.31809611C>T g.31520683C>T - - ZEB1_000032 - PubMed: Krafchak 2005 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.1387_1390del r.(?) p.(Pro463Trpfs*29) - pathogenic g.31809650_31809653del g.31520722_31520725del - - ZEB1_000033 - PubMed: Liskova 2007 - - Germline/De novo (untested) - - - - - Cerys Evans
?/. - c.1438G>C r.(?) p.(Glu480Gln) - VUS g.31809701G>C g.31520773G>C ZEB1(NM_001174096.2):c.1441G>C (p.(Glu481Gln)), ZEB1(NM_001323638.1):c.784G>C (p.E262Q) - ZEB1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1438G>C r.(?) p.(Glu480Gln) - likely benign g.31809701G>C - ZEB1(NM_001174096.2):c.1441G>C (p.(Glu481Gln)), ZEB1(NM_001323638.1):c.784G>C (p.E262Q) - ZEB1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1440_1441del r.(?) p.(Gln481AlafsTer2) ACMG pathogenic g.31809703_31809704del g.31520775_31520776del ZEB1 c.1440_1441del p.(Gln481AlafsTer2) het - ZEB1_000062 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - LOVD
+/. - c.1482dup r.(?) p.(Glu495Argfs*10) - pathogenic g.31809745dup g.31520817dup - - ZEB1_000035 - PubMed: Aldave 2007 - - Germline/De novo (untested) - - - - - Cerys Evans
?/. - c.1495G>A r.(?) p.(Ala499Thr) - VUS g.31809758G>A - ZEB1(NM_001323638.1):c.841G>A (p.A281T) - ZEB1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1569del r.(?) p.(Val526*) - pathogenic g.31809832del g.31520904del - - ZEB1_000036 - PubMed: Aldave 2007 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.1576del r.(?) p.(Val526Ter) - pathogenic g.31809839del g.31520911del 1576delG - ZEB1_000066 - PubMed: Moon 2021 - - Germline - - - - - Johan den Dunnen
+/. - c.1576dup r.(?) p.(Val526Glyfs*3) - pathogenic g.31809839dup g.31520911dup - - ZEB1_000037 - PubMed: Bakhtiari 2013 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.1576dup r.(?) p.(Val526Glyfs*3) - pathogenic g.31809839dup g.31520911dup - - ZEB1_000037 - PubMed: Evans 2015 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.1576dup r.(?) p.(Val526Glyfs*3) - pathogenic g.31809839dup g.31520911dup - - ZEB1_000037 - PubMed: Krafchak 2005 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.1576dup r.(?) p.(Val526Glyfs*3) - pathogenic g.31809839dup g.31520911dup - - ZEB1_000037 - PubMed: Lechner 2013 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.1669C>T r.(?) p.(Gln557*) - pathogenic g.31809932C>T - - - ZEB1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1717_1718del r.(?) p.(Val573Phefs*12) - pathogenic g.31809980_31809981del g.31521052_31521053del - - ZEB1_000038 - PubMed: Evans 2015 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.1751del r.(?) p.(Pro584Leufs*6) - pathogenic g.31810014del g.31521086del - - ZEB1_000039 - PubMed: Evans 2015 - - Germline/De novo (untested) - - - - - Cerys Evans
?/. - c.1775T>C r.(?) p.(Leu592Pro) - VUS g.31810038T>C g.31521110T>C ZEB1(NM_001323638.1):c.1121T>C (p.L374P) - ZEB1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1794A>G r.(?) p.(Ala598=) - likely benign g.31810057A>G - ZEB1(NM_001323638.1):c.1140A>G (p.A380=) - ZEB1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1913_1914del r.(?) p.(Ser638Cysfs*5) - pathogenic g.31810176_31810177del g.31521248_31521249del - - ZEB1_000040 - PubMed: Bakhtiari 2013 - - Germline/De novo (untested) - - - - - Cerys Evans
-?/. - c.1974C>G r.(?) p.(Asn658Lys) - likely benign g.31810237C>G g.31521309C>G ZEB1(NM_001128128.2):c.1926C>G (p.(Asn642Lys)) - ZEB1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.2034_2035del r.(?) p.(Pro680PhefsTer5) - pathogenic g.31810297_31810298del g.31521369_31521370del 2034_2035delAA - ZEB1_000067 - PubMed: Moon 2021 - - Germline - - - - - Johan den Dunnen
+?/. - c.2058_2062dup r.(?) p.(Val688Alafs*23) - likely pathogenic g.31810321_31810325dup - - - ZEB1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.2157C>G r.(?) p.(Tyr719*) - pathogenic g.31810420C>G g.31521492C>G - - ZEB1_000041 - PubMed: Liskova 2007 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.2182G>T r.(?) p.(Glu728*) - pathogenic g.31810445G>T g.31521517G>T - - ZEB1_000042 - PubMed: Krafchak 2005 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.2249C>A r.(?) p.(Ser750*) - pathogenic g.31810512C>A g.31521584C>A - - ZEB1_000043 - PubMed: Lechner 2013 - - Germline/De novo (untested) - - - - - Cerys Evans
?/. - c.2251A>G r.(?) p.(Thr751Ala) - VUS g.31810514A>G - ZEB1(NM_001323638.1):c.1597A>G (p.T533A) - ZEB1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2324dup r.(?) p.(Glu776Glyfs*44) - pathogenic g.31810587dup g.31521659dup - - ZEB1_000044 - PubMed: Liskova 2007 - - Germline/De novo (untested) - - - - - Cerys Evans
?/. - c.2416A>G r.(?) p.(Thr806Ala) - VUS g.31810679A>G g.31521751A>G ZEB1(NM_001323638.1):c.1762A>G (p.T588A) - ZEB1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2519A>C r.(?) p.(Gln840Pro) - VUS g.31810782A>C g.31521854A>C ZEB1(NM_001323638.1):c.1865A>C (p.Q622P), ZEB1(NM_030751.6):c.2519A>C (p.Q840P) - ZEB1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2519A>C r.(?) p.(Gln840Pro) - pathogenic g.31810782A>C g.31521854A>C - - ZEB1_000046 17 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118020901 Germline - 17/2794 individuals - - - Mohammed Faruq
-?/. - c.2519A>C r.(?) p.(Gln840Pro) - likely benign g.31810782A>C - ZEB1(NM_001323638.1):c.1865A>C (p.Q622P), ZEB1(NM_030751.6):c.2519A>C (p.Q840P) - ZEB1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.2617dup r.(?) p.(Thr873Asnfs*2) - pathogenic g.31812876dup g.31523948dup - - ZEB1_000047 - PubMed: Liskova 2013 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.2650del r.(?) p.(Gln884Argfs*37) - pathogenic g.31812909del g.31523981del - - ZEB1_000048 - PubMed: Bakhtiari 2013 - - Germline/De novo (untested) - - - - - Cerys Evans
?/. - c.2668A>C r.(?) p.(Thr890Pro) - VUS g.31812927A>C - ZEB1(NM_001323638.1):c.2014A>C (p.T672P) - ZEB1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2703T>C r.(?) p.(Asn901=) - likely benign g.31812962T>C - ZEB1(NM_001323638.1):c.2049T>C (p.N683=) - ZEB1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2916_2917del r.(?) p.(Gly973Valfs*14) - pathogenic g.31815733_31815734del g.31526805_31526806del - - ZEB1_000049 - PubMed: Krafchak 2005 - - Germline/De novo (untested) - - - - - Cerys Evans
+/. - c.2990_2991del r.(?) p.(Glu997Alafs*7) - pathogenic g.31815807_31815808del g.31526879_31526880del - - ZEB1_000050 - PubMed: Aldave 2007 - - Germline/De novo (untested) - - - - - Cerys Evans
?/. - c.3073_3080del r.(?) p.(Arg1025Phefs*7) - VUS g.31815890_31815897del - ZEB1(NM_001323638.1):c.2419_2426delAGAGAGAG (p.R807Ffs*7) - ZEB1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3090G>A r.(?) p.(Arg1030=) - likely benign g.31815907G>A g.31526979G>A ZEB1(NM_001323638.1):c.2436G>A (p.R812=) - ZEB1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.3116_3117del r.(?) p.(Glu1039Glyfs*6) - pathogenic g.31815933_31815934del g.31527005_31527006del - - ZEB1_000051 - PubMed: Bakhtiari 2013 - - Germline/De novo (untested) - - - - - Cerys Evans
-?/. - c.3207_3209del r.(?) p.(Glu1071del) - likely benign g.31816024_31816026del g.31527096_31527098del ZEB1(NM_001128128.2):c.3145_3147del (p.(Glu1049del)) - ZEB1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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