Full data view for gene ODZ1

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

59 entries on 1 page. Showing entries 1 - 59.
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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.108A>C r.(?) p.(Pro36=) Unknown - likely benign g.124097495T>G - TENM1(NM_001163278.1):c.108A>C (p.P36=) - ODZ1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.415C>T r.(?) p.(Arg139Trp) Unknown - VUS g.124029893G>A g.124896044G>A TENM1(NM_001163278.1):c.415C>T (p.R139W) - ODZ1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1015+10T>C r.(=) p.(=) Unknown - benign g.123838853A>G - TENM1(NM_001163278.1):c.1015+10T>C - ODZ1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1112T>C r.(?) p.(Met371Thr) Unknown - likely benign g.123805589A>G - TENM1(NM_001163278.1):c.1112T>C (p.(Met371Thr)) - ODZ1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1187C>T r.(?) p.(Ala396Val) Unknown - likely benign g.123787615G>A g.124653765G>A TENM1(NM_001163278.1):c.1187C>T (p.A396V, p.(Ala396Val)) - ODZ1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1187C>T r.(?) p.(Ala396Val) Unknown - likely benign g.123787615G>A g.124653765G>A TENM1(NM_001163278.1):c.1187C>T (p.A396V, p.(Ala396Val)) - ODZ1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2100T>C r.(?) p.(Gly700=) Unknown - likely benign g.123699388A>G - TENM1(NM_001163278.1):c.2100T>C (p.G700=) - ODZ1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2264-3dup r.spl? p.? Unknown - benign g.123697628dup - TENM1(NM_001163278.2):c.2264-3dupT - ODZ1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2603G>T r.(?) p.(Gly868Val) Unknown - likely benign g.123680772C>A g.124546922C>A TENM1(NM_001163278.1):c.2603G>T (p.(Gly868Val)) - ODZ1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2644G>A r.(?) p.(Asp882Asn) Unknown - likely benign g.123680731C>T - TENM1(NM_001163278.1):c.2644G>A (p.D882N) - ODZ1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2818G>A r.(?) p.(Asp940Asn) Unknown - benign g.123657429C>T g.124523579C>T TENM1(NM_001163278.1):c.2818G>A (p.D940N) - ODZ1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3034-9_3034-8del r.(=) p.(=) Unknown - VUS g.123654657_123654658del g.124520807_124520808del TENM1(NM_001163278.1):c.3034-10_3034-9del (p.(=)) - ODZ1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3034-8dup r.(=) p.(=) Unknown - VUS g.123654658dup g.124520808dup - - ODZ1_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.3034-7del r.(=) p.(=) Unknown - VUS g.123654641del g.124520791del - - ODZ1_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.3336C>T r.(?) p.(Asp1112=) Unknown - likely benign g.123637519G>A - TENM1(NM_001163278.1):c.3336C>T (p.D1112=) - ODZ1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3362T>C r.(?) p.(Val1121Ala) Unknown - VUS g.123637493A>G g.124503643A>G TENM1(NM_001163278.1):c.3362T>C (p.(Val1121Ala)) - ODZ1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3485C>T r.(?) p.(Ser1162Phe) Unknown - VUS g.123631076G>A g.124497226G>A TENM1(NM_001163278.1):c.3485C>T (p.S1162F) - ODZ1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3556A>G r.(?) p.(Asn1186Asp) Unknown - likely benign g.123631005T>C - TENM1(NM_001163278.1):c.3556A>G (p.N1186D) - ODZ1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3655A>G r.(?) p.(Ile1219Val) Unknown - VUS g.123630906T>C g.124497056T>C TENM1(NM_001163278.1):c.3655A>G (p.(Ile1219Val)) - ODZ1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3703C>T r.(?) p.(Pro1235Ser) Unknown - likely benign g.123615807G>A g.124481957G>A TENM1(NM_001163278.1):c.3724C>T (p.(Pro1242Ser)), TENM1(NM_001163278.2):c.3724C>T (p.P1242S) - ODZ1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3703C>T r.(?) p.(Pro1235Ser) Unknown - likely benign g.123615807G>A - TENM1(NM_001163278.1):c.3724C>T (p.(Pro1242Ser)), TENM1(NM_001163278.2):c.3724C>T (p.P1242S) - ODZ1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3841G>T r.(?) p.(Gly1281*) Unknown - VUS g.123615669C>A - TENM1(NM_001163279.1):c.3859G>T (p.(Ala1287Ser)) - ODZ1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3859C>G r.(?) p.(Leu1287Val) Unknown - VUS g.123615651G>C g.124481801G>C TENM1(NM_001163278.1):c.3880C>G (p.L1294V) - ODZ1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4184G>A r.(?) p.(Arg1395His) Unknown - VUS g.123556388C>T g.124422538C>T TENM1(NM_001163278.1):c.4205G>A (p.R1402H) - ODZ1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4336G>A r.(?) p.(Glu1446Lys) Unknown - VUS g.123556236C>T - TENM1(NM_001163278.2):c.4357G>A (p.E1453K) - ODZ1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4691A>G r.(?) p.(Tyr1564Cys) Unknown - likely benign g.123554431T>C - TENM1(NM_001163278.1):c.4712A>G (p.(Tyr1571Cys)) - ODZ1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4706C>T r.(?) p.(Thr1569Ile) Unknown - VUS g.123554416G>A - TENM1(NM_001163278.1):c.4727C>T (p.T1576I) - ODZ1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4961+56A>G r.(=) p.(=) Maternal (inferred) - VUS g.123554105T>C g.124420255T>C - - ODZ1_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.4961+56A>G r.(=) p.(=) Maternal (inferred) - VUS g.123554105T>C g.124420255T>C - - ODZ1_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.4962-228dup r.(=) p.(=) Maternal (inferred) - VUS g.123540572dup g.124406722dup - - ODZ1_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.4962-228dup r.(=) p.(=) Maternal (inferred) - VUS g.123540572dup g.124406722dup - - ODZ1_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.4962-228dup r.(=) p.(=) Maternal (inferred) - VUS g.123540572dup g.124406722dup - - ODZ1_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.4962-228dup r.(=) p.(=) Maternal (inferred) - VUS g.123540572dup g.124406722dup - - ODZ1_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.4994C>T r.(?) p.(Thr1665Met) Unknown - likely benign g.123540307G>A - TENM1(NM_001163278.1):c.5015C>T (p.(Thr1672Met)) - ODZ1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5072G>A r.(?) p.(Arg1691His) Unknown - likely benign g.123540229C>T g.124406379C>T TENM1(NM_001163278.1):c.5093G>A (p.(Arg1698His)) - ODZ1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5280G>T r.(?) p.(Leu1760Phe) Unknown - likely benign g.123538971C>A - TENM1(NM_001163278.1):c.5301G>T (p.(Leu1767Phe)) - ODZ1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5349G>A r.(?) p.(Ser1783=) Unknown - likely benign g.123538902C>T - TENM1(NM_001163278.1):c.5370G>A (p.S1790=) - ODZ1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5370+71_5370+78del r.(=) p.(=) Maternal (inferred) - VUS g.123538830_123538837del g.124404980_124404987del - - ODZ1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.5370+71_5370+78del r.(=) p.(=) Maternal (inferred) - VUS g.123538830_123538837del g.124404980_124404987del - - ODZ1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.5370+72_5370+79del r.(=) p.(=) Maternal (inferred) - VUS g.123538802_123538809del g.124404952_124404959del - - ODZ1_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.5370+72_5370+79del r.(=) p.(=) Maternal (inferred) - VUS g.123538802_123538809del g.124404952_124404959del - - ODZ1_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.5574G>A r.(?) p.(Thr1858=) Unknown - likely benign g.123525995C>T - TENM1(NM_001163278.1):c.5595G>A (p.T1865=) - ODZ1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5699G>A r.(?) p.(Arg1900His) Unknown - VUS g.123519883C>T - TENM1(NM_001163278.2):c.5720G>A (p.R1907H) - ODZ1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5862C>G r.(?) p.(Gly1954=) Unknown - likely benign g.123519720G>C - TENM1(NM_001163278.1):c.5883C>G (p.G1961=) - ODZ1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6056-7C>T r.(=) p.(=) Unknown - likely benign g.123518711G>A g.124384861G>A TENM1(NM_001163278.1):c.6077-7C>T (p.(=)) - ODZ1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6157G>T r.(?) p.(Ala2053Ser) Unknown - VUS g.123518603C>A g.124384753C>A TENM1(NM_001163278.1):c.6178G>T (p.A2060S) - ODZ1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6522C>T r.(?) p.(Tyr2174=) Unknown - likely benign g.123518238G>A - TENM1(NM_001163278.1):c.6543C>T (p.Y2181=) - ODZ1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6554A>T r.(?) p.(His2185Leu) Unknown - likely benign g.123518206T>A - TENM1(NM_001163278.1):c.6575A>T (p.(His2192Leu)) - ODZ1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6734C>G r.(?) p.(Thr2245Ser) Unknown - likely benign g.123518026G>C - TENM1(NM_001163278.1):c.6755C>G (p.(Thr2252Ser)) - ODZ1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6824C>A r.(?) p.(Thr2275Asn) Unknown - likely benign g.123517936G>T - TENM1(NM_001163278.1):c.6845C>A (p.T2282N) - ODZ1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7051C>G r.(?) p.(Pro2351Ala) Unknown - VUS g.123517709G>C g.124383859G>C TENM1(NM_001163278.1):c.7072C>G (p.P2358A) - ODZ1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7528G>A r.(?) p.(Gly2510Arg) Unknown - VUS g.123515036C>T g.124381186C>T TENM1(NM_001163278.1):c.7549G>A (p.(Gly2517Arg)) - ODZ1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7775G>C r.(?) p.(Gly2592Ala) Unknown - likely benign g.123514789C>G - TENM1(NM_001163278.1):c.7796G>C (p.(Gly2599Ala)) - ODZ1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7852C>T r.(?) p.(Arg2618Trp) Unknown - VUS g.123514712G>A - TENM1(NM_001163278.1):c.7873C>T (p.R2625W) - ODZ1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7978A>G r.(?) p.(Thr2660Ala) Unknown - likely benign g.123514586T>C - TENM1(NM_001163278.1):c.7999A>G (p.T2667A) - ODZ1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8065C>T r.(?) p.(Arg2689Trp) Unknown - likely benign g.123514499G>A g.124380649G>A TENM1(NM_001163278.1):c.8086C>T (p.(Arg2696Trp)) - ODZ1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1282A>C r.(=) p.(=) Maternal (inferred) - VUS g.123513104T>G g.124379254T>G - - ODZ1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*1282A>C r.(=) p.(=) Maternal (inferred) - VUS g.123513104T>G g.124379254T>G - - ODZ1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.*9216_*9220del r.(=) p.(=) Unknown - likely benign g.123505169_123505173del g.124371319_124371323del SH2D1A(NM_002351.4):c.347-32_347-28delATTTT - SH2D1A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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