Full data view for gene ZEB2

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

83 entries on 1 page. Showing entries 1 - 83.
Legend  

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     

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Gender     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - 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.74-459_74-458del r.(=) p.(=) Unknown - likely benign g.145188063_145188064del g.144430496_144430497del ZEB2(NM_014795.3):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.200A>G r.(?) p.(Asn67Ser) Unknown - VUS g.145187467T>C g.144429900T>C ZEB2(NM_014795.3):c.200A>G (p.N67S) - ZEB2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.217_227del r.(?) p.(His73Serfs*11) 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_014795.3):c.220G>A (p.V74M) - ZEB2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.271_277del r.(?) p.(Gly91Trpfs*15) Parent #1 - - g.145187394_145187400del g.144429827_144429833del NM_014795: c.271_277del; p.91_93del - ZEB2_000009 - PubMed: Karaca 2015 - - Germline - - - 0 - DNA SEQ-NG-I - WES ? 26539891-FamBAB3413 PubMed: Karaca 2015 - - - - - - 0 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_014795.3):c.295A>G (p.N99D) - ZEB2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.396T>C r.(?) p.(=) Unknown - likely benign g.145182370A>G g.144424803A>G ZEB2(NM_014795.3):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_014795.3):c.404-193T>G - ZEB2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.420C>A r.(?) p.(Cys140*) Unknown - pathogenic g.145162575G>T g.144405008G>T - - ZEB2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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.489C>T r.(?) p.(=) Unknown - likely benign g.145162506G>A g.144404939G>A ZEB2(NM_014795.3):c.489C>T (p.I163=) - ZEB2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.489C>T r.(?) p.(=) Unknown - benign g.145162506G>A g.144404939G>A ZEB2(NM_014795.3):c.489C>T (p.I163=) - ZEB2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.489C>T r.(?) p.(=) Unknown - benign g.145162506G>A g.144404939G>A ZEB2(NM_014795.3):c.489C>T (p.I163=) - ZEB2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.593-205T>C r.(=) p.(=) Both (homozygous) - - g.145161902A>G g.144404335A>G - - ZEB2_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Almomani 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-?/. - c.636C>T r.(?) p.(=) 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.712G>T r.(?) p.(Glu238*) Unknown - pathogenic g.145161578C>A g.144404011C>A - - ZEB2_000007 - - - - De novo - - - 0 blood DNA SEQ-NG-I blood - ID P10 - - F no China - >08y - - - 1 Wenjuan Qiu
-?/. - c.759C>T r.(?) p.(=) Unknown - likely benign g.145161531G>A g.144403964G>A ZEB2(NM_014795.3):c.759C>T (p.R253=) - ZEB2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.759C>T r.(?) p.(=) Unknown - likely benign g.145161531G>A g.144403964G>A ZEB2(NM_014795.3):c.759C>T (p.R253=) - ZEB2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.798G>C r.(?) p.(=) Unknown - likely benign g.145161492C>G g.144403925C>G ZEB2(NM_014795.3):c.798G>C (p.G266=) - ZEB2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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.(Gln271*) Unknown - pathogenic g.145158871G>A g.144401304G>A - - ZEB2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.886C>T r.(?) p.(His296Tyr) Unknown - pathogenic g.145158796G>A g.144401229G>A - - ZEB2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.904C>T r.(?) p.(Arg302*) Unknown - pathogenic g.145158778G>A g.144401211G>A - - ZEB2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.916+2T>C r.spl? p.? Unknown - pathogenic g.145158764A>G g.144401197A>G ZEB2(NM_014795.3):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 - - - 0 - DNA SEQ - - myopathy, mitochondrial - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.930C>T r.(?) p.(=) Unknown - likely benign g.145157824G>A g.144400257G>A ZEB2(NM_014795.3):c.930C>T (p.Y310=) - ZEB2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.980C>A r.(?) p.(Ser327*) Unknown - pathogenic g.145157774G>T g.144400207G>T - - ZEB2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1027C>T r.(?) p.(Arg343*) 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1276T>A r.(?) p.(Leu426Ile) Parent #1 - VUS g.145157478A>T g.144399911A>T - - ZEB2_000003 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 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_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1480C>T r.(?) p.(Pro494Ser) Unknown - likely benign g.145157274G>A g.144399707G>A ZEB2(NM_014795.3):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) - 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_014795.3):c.1492C>T (p.P498S) - ZEB2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1542G>T r.(?) p.(=) Unknown - likely benign g.145157212C>A g.144399645C>A ZEB2(NM_014795.3):c.1542G>T (p.P514=) - ZEB2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1575del r.(?) p.(Ile526Leufs*18) Unknown - pathogenic g.145157180del g.144399613del ZEB2(NM_014795.3):c.1575delT (p.I526Lfs*18) - ZEB2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1586del r.(?) p.(Thr529Serfs*15) Parent #1 - - g.145157168del g.144399601del - - ZEB2_000091 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs398124276 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-/. - c.1587G>A r.(?) p.(=) Unknown - benign g.145157167C>T g.144399600C>T - - ZEB2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1749C>A r.(?) p.(Cys583*) 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1848T>G r.(=) p.(=) Parent #1 - benign g.145156906A>C g.144399339A>C - - ZEB2_000005 - - - rs144835963 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.1956C>G r.(?) p.(Tyr652*) Unknown - pathogenic g.145156798G>C g.144399231G>C - - ZEB2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2083C>T r.(?) p.(Arg695*) 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2083C>T r.(?) p.(Arg695*) 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.2117del r.(?) p.(Pro706Hisfs*10) Unknown - pathogenic g.145156640del g.144399073del ZEB2(NM_014795.3):c.2117delC (p.P706Hfs*10) - ZEB2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2141C>T r.(?) p.(Pro714Leu) Unknown - likely benign g.145156613G>A g.144399046G>A ZEB2(NM_014795.3):c.2141C>T (p.P714L) - ZEB2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2142G>A r.(?) p.(=) Unknown - likely benign g.145156612C>T g.144399045C>T ZEB2(NM_014795.3):c.2142G>A (p.P714=) - ZEB2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2203C>T r.(?) p.(Pro735Ser) Unknown - likely benign g.145156551G>A g.144398984G>A ZEB2(NM_014795.3):c.2203C>T (p.P735S) - ZEB2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2230A>G r.(?) p.(Ile744Val) Unknown - likely benign g.145156524T>C g.144398957T>C ZEB2(NM_014795.3):c.2230A>G (p.I744V) - ZEB2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2403C>G r.(?) p.(Tyr801*) Unknown - pathogenic g.145156351G>C g.144398784G>C - - ZEB2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2476G>T r.(?) p.(Glu826*) Unknown - pathogenic g.145156278C>A g.144398711C>A - - ZEB2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2769C>A r.(?) p.(Tyr923*) Unknown ACMG likely pathogenic g.145155985G>T g.144398418G>T - - ZEB2_000006 - Trujillano et al., submitted - - De novo - - - 0 - DNA SEQ, SEQ-NG - - MOWS - Trujillano et al., submitted unaffected non-carrier parents - - - - - 0 - - 1 Daniel Trujillano
?/. - c.2793C>G r.(?) p.(Phe931Leu) Unknown - VUS g.145155961G>C g.144398394G>C ZEB2(NM_014795.3):c.2793C>G (p.F931L) - ZEB2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2865C>A r.(?) p.(Tyr955*) Unknown - pathogenic g.145155889G>T g.144398322G>T - - ZEB2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2886+4A>C r.spl? p.? Unknown - VUS g.145155864T>G g.144398297T>G ZEB2(NM_014795.3):c.2886+4A>C - ZEB2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2973C>T r.(?) p.(=) Unknown - likely benign g.145154073G>A g.144396506G>A ZEB2(NM_014795.3):c.2973C>T (p.I991=) - ZEB2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2996_3003del r.(?) p.(Tyr999*) Unknown - VUS g.145154049_145154056del g.144396482_144396489del ZEB2(NM_014795.3):c.2996_3003del (p.(Tyr999Ter)) - ZEB2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.3010T>C r.(?) p.(Cys1004Arg) Unknown - likely pathogenic g.145154036A>G g.144396469A>G - - ZEB2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3050A>G r.(?) p.(His1017Arg) Unknown - VUS g.145153996T>C g.144396429T>C ZEB2(NM_014795.3):c.3050A>G (p.(His1017Arg)) - ZEB2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.3067G>C r.(?) p.(Gly1023Arg) Unknown - likely pathogenic g.145153979C>G g.144396412C>G ZEB2(NM_014795.3):c.3067G>C (p.G1023R) - ZEB2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3067+6A>T r.(=) p.(=) Parent #1 - benign g.145153973T>A g.144396406T>A - - ZEB2_000004 - - - rs143450927 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.3067+6A>T r.(=) p.(=) Unknown - benign g.145153973T>A g.144396406T>A ZEB2(NM_014795.3):c.3067+6A>T - ZEB2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3067+35C>G r.(=) p.(=) Unknown - benign g.145153944G>C g.144396377G>C ZEB2(NM_014795.3):c.3067+35C>G - ZEB2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3067+36C>G r.(=) p.(=) Unknown - benign g.145153943G>C g.144396376G>C ZEB2(NM_014795.3):c.3067+36C>G - ZEB2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3086G>T r.(?) p.(Cys1029Phe) Unknown - likely pathogenic g.145147577C>A g.144390010C>A ZEB2(NM_014795.3):c.3086G>T (p.C1029F) - ZEB2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3130G>A r.(?) p.(Glu1044Lys) Unknown - VUS g.145147533C>T g.144389966C>T - - ZEB2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.3170G>A r.(?) p.(Cys1057Tyr) Unknown - likely pathogenic g.145147493C>T g.144389926C>T - - ZEB2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.3197dup r.(?) p.(His1066Glnfs*58) Unknown - pathogenic g.145147466dup g.144389899dup ZEB2(NM_014795.3):c.3197dupA (p.H1066Qfs*58) - ZEB2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3200C>T r.(?) p.(Ser1067Leu) Unknown - likely pathogenic g.145147463G>A g.144389896G>A - - ZEB2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.3215A>G r.(?) p.(Gln1072Arg) Unknown - pathogenic g.145147448T>C g.144389881T>C - - ZEB2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3432C>T r.(?) p.(=) Unknown - VUS g.145147231G>A g.144389664G>A ZEB2(NM_014795.3):c.3432C>T (p.G1144=) - ZEB2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3471C>T r.(?) p.(=) Unknown - likely benign g.145147192G>A g.144389625G>A ZEB2(NM_014795.3):c.3471C>T (p.D1157=) - ZEB2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3492G>T r.(?) p.(Glu1164Asp) Unknown - VUS g.145147171C>A g.144389604C>A ZEB2(NM_014795.3):c.3492G>T (p.(Glu1164Asp)) - ZEB2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3595A>T r.(?) p.(Met1199Leu) Unknown - VUS g.145147068T>A g.144389501T>A - - ZEB2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*28T>A r.(=) p.(=) Unknown - benign g.145146990A>T g.144389423A>T ZEB2(NM_014795.3):c.*28T>A - ZEB2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*35del r.(?) p.(=) Unknown - benign g.145146991del g.144389424del ZEB2(NM_014795.3):c.*35delT - ZEB2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*514del r.(?) p.(=) Unknown - benign g.145146513del g.144388946del ZEB2(NM_014795.3):c.*514delT - ZEB2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*514dup r.(?) p.(=) Unknown - likely benign g.145146513dup g.144388946dup ZEB2(NM_014795.3):c.*514dupT - ZEB2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 10_ c.*9508G>A r.(?) p.(=) Unknown - - g.145137510C>T g.144379943C>T - - ZEB2_000008 - - - - De novo - - - 0 - DNA SEQ-NG-I blood - HCAD HK164C - - M - Hong Kong - - 0 - - 1 Xuehan Zhuang
Legend