Full data view for gene ZEB2

Information The variants shown are described using the NM_014795.3 transcript reference sequence.

147 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-69-198C>G r.(=) p.(=) Unknown - VUS g.145275184G>C - ZEB2(NM_014795.4):c.-69-198C>G - ZEB2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-69-197A>T r.(=) p.(=) Unknown - likely benign g.145275183T>A - ZEB2(NM_014795.4):c.-69-197A>T - ZEB2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-69-179A>C r.(=) p.(=) Unknown - likely benign g.145275165T>G - ZEB2(NM_014795.4):c.-69-179A>C - ZEB2_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.? r.(?) p.(Thr350Met) Unknown - VUS g.? - - - SNRNP200_000007 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K107 PubMed: Heidet 2017 - - - France - - - - - 1 Johan den Dunnen
-?/. - c.1A>G r.(?) p.? Unknown - likely benign g.145274917T>C - - - ZEB2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9G>C r.(?) p.(Gln3His) Unknown - likely benign g.145274909C>G g.144517342C>G ZEB2(NM_014795.3):c.9G>C (p.Q3H) - ZEB2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.28C>T r.(?) p.(Pro10Ser) Unknown - VUS g.145274890G>A g.144517323G>A - - ZEB2_000137 - PubMed: Mansoorshahi 2024 - rs1451219938 Germline - - - - - DNA SEQ, SEQ-NG - WES CHD BAV249 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - 1 Johan den Dunnen
-?/. - c.55A>T r.(?) p.(Asn19Tyr) Unknown - likely benign g.145274863T>A - ZEB2(NM_014795.3):c.55A>T (p.(Asn19Tyr)) - ZEB2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.73+19259_73+19260insTTA r.(=) p.(=) Unknown - likely benign g.145255587_145255588insATA - ZEB2(NM_014795.4):c.73+19259_73+19260insTTA - ZEB2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.73+19270_73+19271insCA r.(=) p.(=) Unknown - likely benign g.145255575_145255576insGT - ZEB2(NM_014795.4):c.73+19270_73+19271insCA - ZEB2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.74-459_74-458del r.(=) p.(=) Unknown - likely benign g.145188063_145188064del g.144430496_144430497del ZEB2(NM_014795.4):c.74-459_74-458delGT - ZEB2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.83A>G r.(?) p.(Tyr28Cys) Unknown - VUS g.145187584T>C g.144430017T>C - - ZEB2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.104del r.(?) p.(Gly35Valfs*40) Unknown - pathogenic g.145187564del - - - ZEB2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.173A>G r.(?) p.(Gln58Arg) Unknown - VUS g.145187494T>C - ZEB2(NM_014795.3):c.173A>G (p.(Gln58Arg)), ZEB2(NM_014795.4):c.173A>G (p.Q58R) - ZEB2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.173A>G r.(?) p.(Gln58Arg) Unknown - VUS g.145187494T>C - ZEB2(NM_014795.3):c.173A>G (p.(Gln58Arg)), ZEB2(NM_014795.4):c.173A>G (p.Q58R) - ZEB2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.200A>G r.(?) p.(Asn67Ser) Unknown - VUS g.145187467T>C g.144429900T>C ZEB2(NM_014795.4):c.200A>G (p.N67S) - ZEB2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.217_227del r.(?) p.(His73SerfsTer11) Unknown - pathogenic g.145187443_145187453del g.144429876_144429886del - - ZEB2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.220G>A r.(?) p.(Val74Met) Unknown - likely benign g.145187447C>T g.144429880C>T ZEB2(NM_014795.4):c.220G>A (p.V74M) - ZEB2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.271_277del r.(?) p.(Gly91Trpfs*15) Parent #1 - pathogenic g.145187394_145187400del g.144429827_144429833del NM_014795: c.271_277del; p.91_93del - ZEB2_000009 - PubMed: Karaca 2015 - - Germline - - - - - DNA SEQ-NG-I - WES ? 26539891-FamBAB3413 PubMed: Karaca 2015 - - - - - - - family structure in paper - 1 Johan den Dunnen
-?/. - c.295A>G r.(?) p.(Asn99Asp) Unknown - likely benign g.145187372T>C g.144429805T>C ZEB2(NM_014795.4):c.295A>G (p.N99D) - ZEB2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.304A>T r.(?) p.(Ile102Phe) Unknown - likely benign g.145187363T>A g.144429796T>A ZEB2(NM_014795.3):c.304A>T (p.I102F), ZEB2(NM_014795.4):c.304A>T (p.I102F) - ZEB2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.304A>T r.(?) p.(Ile102Phe) Unknown - likely benign g.145187363T>A g.144429796T>A ZEB2(NM_014795.3):c.304A>T (p.I102F), ZEB2(NM_014795.4):c.304A>T (p.I102F) - ZEB2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.392A>G r.(?) p.(Asn131Ser) Unknown - likely benign g.145182374T>C - ZEB2(NM_014795.3):c.392A>G (p.(Asn131Ser)) - ZEB2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.395A>C r.(?) p.(Asn132Thr) Unknown - likely benign g.145182371T>G - ZEB2(NM_014795.3):c.395A>C (p.N132T) - ZEB2_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.396T>C r.(?) p.(Asn132=) Unknown - likely benign g.145182370A>G g.144424803A>G ZEB2(NM_014795.4):c.396T>C (p.N132=) - ZEB2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.404-193T>G r.(=) p.(=) Unknown - benign g.145162784A>C g.144405217A>C ZEB2(NM_014795.4):c.404-193T>G - ZEB2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.420C>A r.(?) p.(Cys140Ter) Unknown - pathogenic g.145162575G>T g.144405008G>T - - ZEB2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.466C>T r.(?) p.(Arg156Cys) Unknown - likely benign g.145162529G>A g.144404962G>A ZEB2(NM_014795.3):c.466C>T (p.R156C) - ZEB2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.467G>A r.(?) p.(Arg156His) Unknown - VUS g.145162528C>T - ZEB2(NM_014795.4):c.467G>A (p.R156H) - ZEB2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.489C>T r.(?) p.(Ile163=) Unknown - likely benign g.145162506G>A g.144404939G>A ZEB2(NM_014795.3):c.489C>T (p.I163=), ZEB2(NM_014795.4):c.489C>T (p.I163=) - ZEB2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.489C>T r.(?) p.(Ile163=) Unknown - benign g.145162506G>A g.144404939G>A ZEB2(NM_014795.3):c.489C>T (p.I163=), ZEB2(NM_014795.4):c.489C>T (p.I163=) - ZEB2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.592_592+1dup r.spl? p.? Unknown - pathogenic g.145162402_145162403dup - ZEB2(NM_014795.4):c.592+2_592+3insGG - ZEB2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.593-205T>C r.(=) p.(=) Both (homozygous) - VUS g.145161902A>G g.144404335A>G - - ZEB2_000001 - PubMed: Almomani 2011 {dbSNP:13009259} - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Almomani 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.593-8G>A r.(=) p.(=) Unknown - likely benign g.145161705C>T g.144404138C>T ZEB2(NM_014795.3):c.593-8G>A (p.?) - ZEB2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.636C>T r.(?) p.(Thr212=) Unknown - likely benign g.145161654G>A g.144404087G>A ZEB2(NM_014795.3):c.636C>T (p.T212=) - ZEB2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.712G>T r.(?) p.(Glu238*) Unknown - pathogenic g.145161578C>A g.144404011C>A - - ZEB2_000007 - - - - De novo - - - - blood DNA SEQ-NG-I blood - ID P10 - - F no China - >08y - - - 1 Wenjuan Qiu
-?/. - c.759C>T r.(?) p.(Arg253=) Unknown - likely benign g.145161531G>A g.144403964G>A ZEB2(NM_014795.3):c.759C>T (p.R253=), ZEB2(NM_014795.4):c.759C>T (p.R253=) - ZEB2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.759C>T r.(?) p.(Arg253=) Unknown - likely benign g.145161531G>A g.144403964G>A ZEB2(NM_014795.3):c.759C>T (p.R253=), ZEB2(NM_014795.4):c.759C>T (p.R253=) - ZEB2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.786dup r.(?) p.(His263ThrfsTer17) Unknown - likely pathogenic g.145161504dup g.144403937dup ZEB2(NM_014795.3):c.786dupA (p.(His263ThrfsTer17)) - ZEB2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.798G>C r.(?) p.(Gly266=) Unknown - likely benign g.145161492C>G g.144403925C>G ZEB2(NM_014795.4):c.798G>C (p.(Gly266=), p.G266=) - ZEB2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.798G>C r.(?) p.(Gly266=) Unknown - likely benign g.145161492C>G - ZEB2(NM_014795.4):c.798G>C (p.(Gly266=), p.G266=) - ZEB2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.807+3G>C r.spl? p.? Unknown - VUS g.145161480C>G g.144403913C>G ZEB2(NM_014795.3):c.807+3G>C - ZEB2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.811C>T r.(?) p.(Gln271Ter) Unknown - pathogenic g.145158871G>A g.144401304G>A - - ZEB2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.850T>C r.(?) p.(Cys284Arg) Unknown - likely pathogenic g.145158832A>G - ZEB2(NM_014795.4):c.850T>C (p.C284R) - ZEB2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.886C>T r.(?) p.(His296Tyr) Unknown - pathogenic g.145158796G>A g.144401229G>A - - ZEB2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.904C>T r.(?) p.(Arg302Ter) Unknown - pathogenic g.145158778G>A g.144401211G>A - - ZEB2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.905G>A r.(?) p.(Arg302Gln) Unknown - VUS g.145158777C>T - - - ZEB2_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.916+2T>C r.spl? p.? Unknown - pathogenic g.145158764A>G g.144401197A>G ZEB2(NM_014795.4):c.916+2T>C - ZEB2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.917-21T>C r.(=) p.(=) Parent #1 - benign g.145157858A>G g.144400291A>G - - ZEB2_000002 - - - rs35213774 Germline - - - - - DNA SEQ - - MEOAL;MMDS8 - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.930C>T r.(?) p.(Tyr310=) Unknown - likely benign g.145157824G>A g.144400257G>A ZEB2(NM_014795.4):c.930C>T (p.(Tyr310=), p.Y310=) - ZEB2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.930C>T r.(?) p.(Tyr310=) Unknown - likely benign g.145157824G>A - ZEB2(NM_014795.4):c.930C>T (p.(Tyr310=), p.Y310=) - ZEB2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.961del r.(?) p.(His321Ilefs*17) Unknown - pathogenic g.145157795del - ZEB2(NM_014795.4):c.961delC (p.H321Ifs*17) - ZEB2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.980C>A r.(?) p.(Ser327Ter) Unknown - pathogenic g.145157774G>T g.144400207G>T - - ZEB2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1000T>G r.(?) p.(Cys334Gly) Unknown - likely pathogenic g.145157754A>C - - - ZEB2_000096 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+/. - c.1027C>T r.(?) p.(Arg343Ter) Unknown - pathogenic g.145157727G>A g.144400160G>A ZEB2(NM_014795.3):c.1027C>T (p.R343*) - ZEB2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1049C>T r.(?) p.(Thr350Met) Unknown - VUS g.145157705G>A - ZEB2(NM_014795.4):c.1049C>T (p.T350M) - ZEB2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1221C>T r.(?) p.(His407=) Unknown - likely benign g.145157533G>A - ZEB2(NM_014795.4):c.1221C>T (p.H407=) - ZEB2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1276T>A r.(?) p.(Leu426Ile) Parent #1 - VUS g.145157478A>T g.144399911A>T - - ZEB2_000003 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.1276T>A r.(?) p.(Leu426Ile) Unknown - likely benign g.145157478A>T g.144399911A>T ZEB2(NM_014795.3):c.1276T>A (p.L426I), ZEB2(NM_014795.4):c.1276T>A (p.L426I) - ZEB2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1276T>A r.(?) p.(Leu426Ile) Unknown - likely benign g.145157478A>T - ZEB2(NM_014795.3):c.1276T>A (p.L426I), ZEB2(NM_014795.4):c.1276T>A (p.L426I) - ZEB2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1306A>G r.(?) p.(Met436Val) Unknown - likely benign g.145157448T>C - ZEB2(NM_014795.4):c.1306A>G (p.M436V) - ZEB2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1322T>G r.(?) p.(Val441Gly) Unknown - VUS g.145157432A>C - ZEB2(NM_014795.4):c.1322T>G (p.V441G) - ZEB2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.1326del r.(?) p.(Met443Trpfs*11) Unknown ACMG pathogenic (dominant) g.145157430del g.144399863del - - ZEB2_000125 ACMG: PVS1, PS2_MOD, PM2_SUP - - - De novo - - - - - DNA SEQ-NG-I Blood - MOWS 290575 - - F no Turkey - - - - - 1 Andreas Laner
-?/. - c.1386G>T r.(?) p.(Lys462Asn) Unknown - likely benign g.145157368C>A - ZEB2(NM_014795.3):c.1386G>T (p.(Lys462Asn)) - ZEB2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1426dup r.(?) p.(Met476Asnfs*6) Unknown - pathogenic g.145157333dup - ZEB2(NM_014795.4):c.1426dupA (p.M476Nfs*6) - ZEB2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1451C>T r.(?) p.(Ser484Leu) Unknown - VUS g.145157303G>A g.144399736G>A ZEB2(NM_014795.3):c.1451C>T (p.S484L) - ZEB2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1480C>T r.(?) p.(Pro494Ser) Unknown - likely benign g.145157274G>A g.144399707G>A ZEB2(NM_014795.3):c.1480C>T (p.P494S, p.(Pro494Ser)), ZEB2(NM_014795.4):c.1480C>T (p.P494S) - ZEB2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1480C>T r.(?) p.(Pro494Ser) Unknown - likely benign g.145157274G>A g.144399707G>A ZEB2(NM_014795.3):c.1480C>T (p.P494S, p.(Pro494Ser)), ZEB2(NM_014795.4):c.1480C>T (p.P494S) - ZEB2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1480C>T r.(?) p.(Pro494Ser) Unknown - likely benign g.145157274G>A g.144399707G>A ZEB2(NM_014795.3):c.1480C>T (p.P494S, p.(Pro494Ser)), ZEB2(NM_014795.4):c.1480C>T (p.P494S) - ZEB2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1492C>T r.(?) p.(Pro498Ser) Unknown - VUS g.145157262G>A g.144399695G>A ZEB2(NM_014795.4):c.1492C>T (p.P498S) - ZEB2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1542G>T r.(?) p.(Pro514=) Unknown - likely benign g.145157212C>A g.144399645C>A ZEB2(NM_014795.4):c.1542G>T (p.P514=) - ZEB2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1575del r.(?) p.(Ile526LeufsTer18) Unknown - pathogenic g.145157180del g.144399613del ZEB2(NM_014795.4):c.1575delT (p.I526Lfs*18) - ZEB2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1586del r.(?) p.(Thr529Serfs*15) Parent #1 - pathogenic g.145157168del g.144399601del - - ZEB2_000091 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398124276 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.1587G>A r.(?) p.(Thr529=) Unknown - benign g.145157167C>T g.144399600C>T - - ZEB2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1603G>T r.(?) p.(Glu535Ter) Unknown - pathogenic g.145157151C>A - - - ZEB2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1722C>A r.(?) p.(Asn574Lys) Unknown - likely benign g.145157032G>T - ZEB2(NM_014795.3):c.1722C>A (p.(Asn574Lys)) - ZEB2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1749C>A r.(?) p.(Cys583Ter) Unknown - VUS g.145157005G>T g.144399438G>T ZEB2(NM_014795.3):c.1749C>A (p.(Cys583Ter)) - ZEB2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1791_1813dup r.(?) p.(Lys605IlefsTer10) Unknown - pathogenic g.145156942_145156964dup g.144399375_144399397dup - - ZEB2_000098 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2908 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-/. - c.1848T>G r.(=) p.(=) Parent #1 - benign g.145156906A>C g.144399339A>C - - ZEB2_000005 - - - rs144835963 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.1875C>T r.(?) p.(Ala625=) Unknown - likely benign g.145156879G>A - ZEB2(NM_014795.4):c.1875C>T (p.A625=) - ZEB2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1956C>G r.(?) p.(Tyr652Ter) Unknown - pathogenic g.145156798G>C g.144399231G>C - - ZEB2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2083C>T r.(?) p.(Arg695Ter) Unknown - pathogenic g.145156671G>A g.144399104G>A ZEB2(NM_014795.3):c.2083C>T (p.(Arg695Ter)) - ZEB2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2083C>T r.(?) p.(Arg695Ter) Unknown - pathogenic g.145156671G>A g.144399104G>A ZEB2(NM_014795.3):c.2083C>T (p.(Arg695Ter)) - ZEB2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.2099A>G r.(?) p.(Tyr700Cys) Unknown - VUS g.145156655T>C g.144399088T>C - - ZEB2_000097 - - - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-495 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.2117del r.(?) p.(Pro706HisfsTer10) Unknown - pathogenic g.145156640del - ZEB2(NM_014795.4):c.2117delC (p.P706Hfs*10) - ZEB2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2141C>T r.(?) p.(Pro714Leu) Unknown - likely benign g.145156613G>A g.144399046G>A ZEB2(NM_014795.3):c.2141C>T (p.P714L, p.(Pro714Leu)), ZEB2(NM_014795.4):c.2141C>T (p.P714L) - ZEB2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2141C>T r.(?) p.(Pro714Leu) Unknown - likely benign g.145156613G>A g.144399046G>A ZEB2(NM_014795.3):c.2141C>T (p.P714L, p.(Pro714Leu)), ZEB2(NM_014795.4):c.2141C>T (p.P714L) - ZEB2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2141C>T r.(?) p.(Pro714Leu) Unknown - likely benign g.145156613G>A - ZEB2(NM_014795.3):c.2141C>T (p.P714L, p.(Pro714Leu)), ZEB2(NM_014795.4):c.2141C>T (p.P714L) - ZEB2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2142G>A r.(?) p.(Pro714=) Unknown - likely benign g.145156612C>T g.144399045C>T ZEB2(NM_014795.4):c.2142G>A (p.P714=) - ZEB2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2203C>T r.(?) p.(Pro735Ser) Unknown - likely benign g.145156551G>A g.144398984G>A ZEB2(NM_014795.4):c.2203C>T (p.P735S) - ZEB2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2204C>G r.(?) p.(Pro735Arg) Unknown - VUS g.145156550G>C g.144398983G>C ZEB2(NM_014795.3):c.2204C>G (p.(Pro735Arg)) - ZEB2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2205T>C r.(?) p.(Pro735=) Unknown - VUS g.145156549A>G - ZEB2(NM_014795.3):c.2205T>C (p.P735=), ZEB2(NM_014795.4):c.2205T>C (p.P735=) - ZEB2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2205T>C r.(?) p.(Pro735=) Unknown - VUS g.145156549A>G - ZEB2(NM_014795.3):c.2205T>C (p.P735=), ZEB2(NM_014795.4):c.2205T>C (p.P735=) - ZEB2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2206A>G r.(?) p.(Met736Val) Unknown - VUS g.145156548T>C - ZEB2(NM_014795.3):c.2206A>G (p.M736V) - ZEB2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2218A>G r.(?) p.(Thr740Ala) Unknown - VUS g.145156536T>C g.144398969T>C ZEB2(NM_001171653.1):c.2146A>G (p.(Thr716Ala)) - ZEB2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2230A>G r.(?) p.(Ile744Val) Unknown - likely benign g.145156524T>C g.144398957T>C ZEB2(NM_014795.4):c.2230A>G (p.I744V) - ZEB2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.2234C>A r.(?) p.(Ala745Glu) Parent #1 - VUS g.145156520G>T g.144398953G>T - - ZEB2_000120 - PubMed: Sarker 2023 - - Germline/De novo (untested) - - - - - DNA PCRm, SEQ-NG - WES DMD PID_15 PubMed: Sarker 2023 no family history M - Bangladesh - - - - - 1 Johan den Dunnen
?/. - c.2255C>T r.(?) p.(Thr752Met) Unknown - VUS g.145156499G>A - ZEB2(NM_014795.3):c.2255C>T (p.T752M) - ZEB2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2275A>G r.(?) p.(Arg759Gly) Unknown - likely benign g.145156479T>C - ZEB2(NM_014795.3):c.2275A>G (p.(Arg759Gly)) - ZEB2_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2276G>A r.(?) p.(Arg759Lys) Unknown - VUS g.145156478C>T - ZEB2(NM_014795.3):c.2276G>A (p.(Arg759Lys)) - ZEB2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.