Unique variants in the ENOX2 gene

Information The variants shown are described using the NM_182314.1 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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.123C>T r.(?) p.(Ala41=) - likely benign g.129837155G>A g.130703181G>A ENOX2(NM_182314.2):c.123C>T (p.A41=) - ENOX2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.445G>A r.(?) p.(Glu149Lys) - VUS g.129813618C>T g.130679644C>T ENOX2(NM_006375.2):c.358G>A (p.(Glu120Lys)) - ENOX2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.709C>T r.(?) p.(Arg237Cys) - likely benign g.129804011G>A g.130670037G>A ENOX2(NM_006375.2):c.622C>T (p.(Arg208Cys)) - ENOX2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.710G>A r.(?) p.(Arg237His) - VUS g.129804010C>T g.130670036C>T ENOX2(NM_182314.2):c.710G>A (p.R237H) - ENOX2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.849T>C r.(?) p.(Arg283=) - likely benign g.129801649A>G g.130667675A>G ENOX2(NM_182314.2):c.849T>C (p.R283=) - ENOX2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1048C>A r.(?) p.(His350Asn) - VUS g.129799670G>T - ENOX2(NM_182314.2):c.1048C>A (p.H350N) - ENOX2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1162A>G r.(?) p.(Met388Val) - VUS g.129790609T>C g.130656635T>C ENOX2(NM_006375.2):c.1075A>G (p.(Met359Val)) - ENOX2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1216+6G>A r.(=) p.(=) - likely benign g.129790549C>T g.130656575C>T ENOX2(NM_006375.2):c.1129+6G>A (p.(=)) - ENOX2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1398+8C>T r.(=) p.(=) - VUS g.129771195G>A g.130637221G>A ENOX2(NM_006375.2):c.1311+8C>T (p.(=)) - ENOX2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1448A>G r.(?) p.(Glu483Gly) - VUS g.129769016T>C g.130635042T>C - - ENOX2_000014 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.1507-246_1507-245insG r.(=) p.(=) - VUS g.129765795_129765796insC g.130631821_130631822insC - - ENOX2_000005 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1507-230dup r.(=) p.(=) - VUS g.129765796dup g.130631822dup - - ENOX2_000004 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1549G>A r.(?) p.(Glu517Lys) - likely benign g.129765508C>T g.130631534C>T ENOX2(NM_182314.2):c.1549G>A (p.E517K) - ENOX2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1702-177C>T r.(=) p.(=) - VUS g.129759596G>A g.130625622G>A - - ENOX2_000001 - - - - Germline - - - - - Yu Sun
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