Unique variants in the EGFL6 gene

Information The variants shown are described using the NM_015507.3 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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     
?/. 2 - c.-152T>G r.(?) p.(=) - VUS g.13587829T>G g.13569710T>G - - EGFL6_000034 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.47T>G r.(?) p.(Val16Gly) - likely benign g.13588027T>G g.13569908T>G EGFL6(NM_001167890.1):c.47T>G (p.V16G) - EGFL6_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.75-278A>G r.(=) p.(=) - VUS g.13607397A>G g.13589278A>G - - EGFL6_000037 - - - - Germline - - - - - Yu Sun
?/. 2 - c.75-253T>C r.(=) p.(=) - VUS g.13607422T>C g.13589303T>C - - EGFL6_000032 - - - - Germline - - - - - Yu Sun
?/. 1 - c.120C>A r.(?) p.(Val40=) - VUS g.13607720C>A - EGFL6(NM_001167890.1):c.120C>A (p.V40=) - EGFL6_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.187+94C>G r.(=) p.(=) - VUS g.13607881C>G g.13589762C>G - - EGFL6_000026 - - - - Germline - - - - - Yu Sun
?/. 2 - c.187+338A>G r.(=) p.(=) - VUS g.13608125A>G g.13590006A>G - - EGFL6_000029 - - - - Germline - - - - - Yu Sun
?/. 1 - c.188-433C>T r.(=) p.(=) - VUS g.13612522C>T g.13594403C>T - - EGFL6_000031 - - - - Germline - - - - - Yu Sun
?/. 2 - c.188-240T>C r.(=) p.(=) - VUS g.13612715T>C g.13594596T>C - - EGFL6_000023 - - - - Germline - - - - - Yu Sun
?/. 1 - c.223G>A r.(?) p.(Val75Met) - VUS g.13612990G>A g.13594871G>A - - EGFL6_000046 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 2 - c.400+182_400+185dup r.(=) p.(=) - VUS g.13618395_13618398dup g.13600276_13600279dup - - EGFL6_000020 - - - - Germline - - - - - Yu Sun
?/. 2 - c.400+185dup r.(=) p.(=) - VUS g.13618398dup g.13600279dup - - EGFL6_000041 - - - - Germline - - - - - Yu Sun
?/. 1 - c.400+296A>G r.(=) p.(=) - VUS g.13618509A>G g.13600390A>G - - EGFL6_000022 - - - - Germline - - - - - Yu Sun
?/. 1 - c.413G>A r.(?) p.(Cys138Tyr) - VUS g.13621448G>A g.13603329G>A EGFL6(NM_001167890.1):c.413G>A (p.(Cys138Tyr)) - EGFL6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.514T>C r.(?) p.(Cys172Arg) - VUS g.13621549T>C g.13603430T>C EGFL6(NM_001167890.1):c.514T>C (p.C172R) - EGFL6_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.521-216G>A r.(=) p.(=) - VUS g.13624282G>A g.13606163G>A - - EGFL6_000011 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.635G>A r.(?) p.(Ser212Asn) - likely benign g.13624612G>A g.13606493G>A EGFL6(NM_001167890.1):c.635G>A (p.(Ser212Asn)) - EGFL6_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.656-291G>A r.(=) p.(=) - VUS g.13626152G>A g.13608033G>A - - EGFL6_000014 - - - - Germline - - - - - Yu Sun
?/. 2 - c.656-40T>C r.(=) p.(=) - VUS g.13626403T>C g.13608284T>C - - EGFL6_000001 - - - - Germline - - - - - Yu Sun
?/. 2 - c.779-140_779-138del r.(=) p.(=) - VUS g.13635709_13635711del g.13617590_13617592del - - EGFL6_000038 - - - - Germline - - - - - Yu Sun
?/. 1 - c.779-135_779-133del r.(=) p.(=) - VUS g.13635714_13635716del g.13617595_13617597del - - EGFL6_000005 - - - - Germline - - - - - Yu Sun
-?/., ?/. 3 - c.867C>T r.(=), r.(?) p.(=) - likely benign, VUS g.13635937C>T g.13617818C>T S289S - EGFL6_000006 recurrent, found 6 times PubMed: Tarpey 2009 - - Germline - 6/208 cases - - - Yu Sun, Lucy Raymond
-?/. 1 - c.1087C>A r.(=) p.(=) - likely benign g.13636157C>A g.13618038C>A R363R - EGFL6_000047 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 2 - c.1102+174C>T r.(=) p.(=) - VUS g.13636346C>T g.13618227C>T - - EGFL6_000008 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1103-274del r.(=) p.(=) - VUS g.13637008del g.13618889del - - EGFL6_000040 - - - - Germline - - - - - Yu Sun
-?/., ?/. 2 - c.1127A>G r.(?) p.(Glu376Gly) - likely benign, VUS g.13637306A>G g.13619187A>G EGFL6(NM_001167890.1):c.1127A>G (p.(Glu376Gly)) - EGFL6_000043 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
?/. 1 - c.1184-6T>C r.(=) p.(=) - VUS g.13641937T>C g.13623818T>C EGFL6(NM_001167890.1):c.1184-3T>C (p.?) - EGFL6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1212C>T r.(?) p.(Phe404=) - likely benign g.13641971C>T g.13623852C>T EGFL6(NM_001167890.1):c.1215C>T (p.F405=) - EGFL6_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1412C>G r.(?) p.(Ala471Gly) - VUS g.13645256C>G - EGFL6(NM_001167890.1):c.1415C>G (p.A472G) - EGFL6_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1484C>T r.(?) p.(Thr495Met) - likely benign g.13645328C>T - EGFL6(NM_001167890.1):c.1487C>T (p.T496M) - EGFL6_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1578G>A r.(?) p.(Lys526=) - likely benign g.13651130G>A g.13633011G>A EGFL6(NM_001167890.1):c.1581G>A (p.K527=) - EGFL6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.1603G>A r.(?) p.(Asp535Asn) - likely benign, VUS g.13651155G>A g.13633036G>A EGFL6(NM_001167890.1):c.1606G>A (p.(Asp536Asn)) - EGFL6_000048 recurrent, found 2 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 2/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
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