Unique variants in the ODZ1 gene

Information The variants shown are described using the NM_014253.3 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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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.108A>C r.(?) p.(Pro36=) - likely benign g.124097495T>G - TENM1(NM_001163278.1):c.108A>C (p.P36=) - ODZ1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.415C>T r.(?) p.(Arg139Trp) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1112T>C r.(?) p.(Met371Thr) - likely benign g.123805589A>G - TENM1(NM_001163278.1):c.1112T>C (p.(Met371Thr)) - ODZ1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.1187C>T r.(?) p.(Ala396Val) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.2100T>C r.(?) p.(Gly700=) - likely benign g.123699388A>G - TENM1(NM_001163278.1):c.2100T>C (p.G700=) - ODZ1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2603G>T r.(?) p.(Gly868Val) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.2644G>A r.(?) p.(Asp882Asn) - likely benign g.123680731C>T - TENM1(NM_001163278.1):c.2644G>A (p.D882N) - ODZ1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2818G>A r.(?) p.(Asp940Asn) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3034-9_3034-8del r.(=) p.(=) - VUS g.123654657_123654658del g.124520807_124520808del TENM1(NM_001163278.1):c.3034-9_3034-8del (p.(=)) - ODZ1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3034-8dup r.(=) p.(=) - VUS g.123654658dup g.124520808dup - - ODZ1_000014 - - - - Germline - - - - - Yu Sun
?/. 1 - c.3034-7del r.(=) p.(=) - VUS g.123654641del g.124520791del - - ODZ1_000015 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.3336C>T r.(?) p.(Asp1112=) - likely benign g.123637519G>A - TENM1(NM_001163278.1):c.3336C>T (p.D1112=) - ODZ1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3362T>C r.(?) p.(Val1121Ala) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.3485C>T r.(?) p.(Ser1162Phe) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3556A>G r.(?) p.(Asn1186Asp) - likely benign g.123631005T>C - TENM1(NM_001163278.1):c.3556A>G (p.N1186D) - ODZ1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3655A>G r.(?) p.(Ile1219Val) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.3703C>T r.(?) p.(Pro1235Ser) - likely benign g.123615807G>A g.124481957G>A TENM1(NM_001163278.1):c.3724C>T (p.(Pro1242Ser)) - ODZ1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3859C>G r.(?) p.(Leu1287Val) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4184G>A r.(?) p.(Arg1395His) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4706C>T r.(?) p.(Thr1569Ile) - VUS g.123554416G>A - TENM1(NM_001163278.1):c.4727C>T (p.T1576I) - ODZ1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.4961+56A>G r.(=) p.(=) - VUS g.123554105T>C g.124420255T>C - - ODZ1_000010 - - - - Germline - - - - - Yu Sun
?/. 4 - c.4962-228dup r.(=) p.(=) - VUS g.123540572dup g.124406722dup - - ODZ1_000008, ODZ1_000018 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.5072G>A r.(?) p.(Arg1691His) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.5349G>A r.(?) p.(Ser1783=) - likely benign g.123538902C>T - TENM1(NM_001163278.1):c.5370G>A (p.S1790=) - ODZ1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.5370+71_5370+78del r.(=) p.(=) - VUS g.123538830_123538837del g.124404980_124404987del - - ODZ1_000006 - - - - Germline - - - - - Yu Sun
?/. 2 - c.5370+72_5370+79del r.(=) p.(=) - VUS g.123538802_123538809del g.124404952_124404959del - - ODZ1_000016 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.5574G>A r.(?) p.(Thr1858=) - likely benign g.123525995C>T - TENM1(NM_001163278.1):c.5595G>A (p.T1865=) - ODZ1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.5699G>A r.(?) p.(Arg1900His) - VUS g.123519883C>T - TENM1(NM_001163278.2):c.5720G>A (p.R1907H) - ODZ1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.5862C>G r.(?) p.(Gly1954=) - likely benign g.123519720G>C - TENM1(NM_001163278.1):c.5883C>G (p.G1961=) - ODZ1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.6056-7C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.6157G>T r.(?) p.(Ala2053Ser) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.6522C>T r.(?) p.(Tyr2174=) - likely benign g.123518238G>A - TENM1(NM_001163278.1):c.6543C>T (p.Y2181=) - ODZ1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.6554A>T r.(?) p.(His2185Leu) - likely benign g.123518206T>A - TENM1(NM_001163278.1):c.6575A>T (p.(His2192Leu)) - ODZ1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.6734C>G r.(?) p.(Thr2245Ser) - likely benign g.123518026G>C - TENM1(NM_001163278.1):c.6755C>G (p.(Thr2252Ser)) - ODZ1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.6824C>A r.(?) p.(Thr2275Asn) - likely benign g.123517936G>T - TENM1(NM_001163278.1):c.6845C>A (p.T2282N) - ODZ1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.7051C>G r.(?) p.(Pro2351Ala) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.7528G>A r.(?) p.(Gly2510Arg) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.7852C>T r.(?) p.(Arg2618Trp) - VUS g.123514712G>A - TENM1(NM_001163278.1):c.7873C>T (p.R2625W) - ODZ1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.7978A>G r.(?) p.(Thr2660Ala) - likely benign g.123514586T>C - TENM1(NM_001163278.1):c.7999A>G (p.T2667A) - ODZ1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.8065C>T r.(?) p.(Arg2689Trp) - 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 - - - - - VKGL-NL_Leiden
?/. 2 - c.*1282A>C r.(=) p.(=) - VUS g.123513104T>G g.124379254T>G - - ODZ1_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.*9216_*9220del r.(=) p.(=) - 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 - - - - - VKGL-NL_Utrecht
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