List of variants in gene ELN reported as pathogenic for Supravalvar aortic stenosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 106

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000501.4(ELN):c.1150+1G>A	rs727503030	0.00006
ELN, 100-KB DEL
NC_000007.13:g.(?_73442119)_(73484237_?)del
NC_000007.13:g.(?_73442498)_(73483050_?)del
NC_000007.13:g.(?_73442518)_(73449764_?)del
NC_000007.13:g.(?_73442518)_(73483030_?)del
NC_000007.13:g.(?_73461985)_(73483030_?)del
NC_000007.13:g.(?_73471702)_(73483040_?)del
NC_000007.13:g.(?_73482987)_(73484237_?)del
NC_000007.14:g.(?_74028168)_(74028289_?)del
NC_000007.14:g.(?_74028178)_(74068710_?)del
NC_000007.14:g.(?_74068637)_(74068720_?)del
NM_000501.2(ELN):c.(?_-60)_(*57_?)del
NM_000501.4(ELN):c.1040del (p.Pro347fs)	rs1563826213
NM_000501.4(ELN):c.1075_1082dup (p.Ala362fs)	rs2131925210
NM_000501.4(ELN):c.1097-1G>A	rs727503029
NM_000501.4(ELN):c.1101del (p.Val368fs)	rs863223520
NM_000501.4(ELN):c.1111del (p.Glu371fs)
NM_000501.4(ELN):c.1113dup (p.Ala372fs)	rs730880355
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)	rs199621188
NM_000501.4(ELN):c.1168G>T (p.Gly390Ter)	rs372889752
NM_000501.4(ELN):c.1190dup (p.Tyr397Ter)	rs1795205877
NM_000501.4(ELN):c.1191_1199del (p.Tyr397_Gly400delinsTer)	rs2132059492
NM_000501.4(ELN):c.1191del (p.Thr396_Tyr397insTer)
NM_000501.4(ELN):c.1208del (p.Gly403fs)	rs727504433
NM_000501.4(ELN):c.1217dup (p.Phe407fs)
NM_000501.4(ELN):c.1227del (p.Gly410fs)	rs1563836689
NM_000501.4(ELN):c.1282G>T (p.Gly428Ter)	rs200862792
NM_000501.4(ELN):c.1292del (p.Gly431fs)
NM_000501.4(ELN):c.131del (p.Pro44fs)	rs727503023
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter)	rs137854452
NM_000501.4(ELN):c.1351A>T (p.Lys451Ter)	rs2132079396
NM_000501.4(ELN):c.1393dup (p.Ala465fs)	rs2132135741
NM_000501.4(ELN):c.1452_1453insA (p.Val485fs)	rs2132288547
NM_000501.4(ELN):c.1482del (p.Val495fs)	rs1583959262
NM_000501.4(ELN):c.1539del (p.Gly514fs)
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter)	rs137854453
NM_000501.4(ELN):c.163+2T>A
NM_000501.4(ELN):c.163+2T>C	rs1584494326
NM_000501.4(ELN):c.1654G>T (p.Gly552Ter)
NM_000501.4(ELN):c.166del (p.Leu56fs)	rs2131266202
NM_000501.4(ELN):c.1679del (p.Pro560fs)	rs2132320442
NM_000501.4(ELN):c.1706del (p.Pro569fs)
NM_000501.4(ELN):c.171del (p.Pro58fs)	rs1554666513
NM_000501.4(ELN):c.1728dup (p.Val577fs)	rs2132322943
NM_000501.4(ELN):c.1737del (p.Phe580fs)
NM_000501.4(ELN):c.1744del (p.Ala582fs)	rs727503783
NM_000501.4(ELN):c.1748del (p.Val583fs)
NM_000501.4(ELN):c.1785T>A (p.Tyr595Ter)	rs727503033
NM_000501.4(ELN):c.1817del (p.Leu606fs)	rs1797063858
NM_000501.4(ELN):c.1858+5G>C	rs1554686162
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter)	rs727503034
NM_000501.4(ELN):c.1918+1G>A	rs727503035
NM_000501.4(ELN):c.192del (p.Lys64fs)
NM_000501.4(ELN):c.1973del (p.Pro658fs)
NM_000501.4(ELN):c.1A>G (p.Met1Val)
NM_000501.4(ELN):c.2058del (p.Gly688fs)	rs886039351
NM_000501.4(ELN):c.278del (p.Pro93fs)	rs1791508570
NM_000501.4(ELN):c.295_296del (p.Ala99fs)	rs1554669297
NM_000501.4(ELN):c.2T>C (p.Met1Thr)	rs863223518
NM_000501.4(ELN):c.348del (p.Gly117fs)	rs2131453910
NM_000501.4(ELN):c.364G>T (p.Gly122Ter)
NM_000501.4(ELN):c.377-2A>G
NM_000501.4(ELN):c.383del (p.Val128fs)	rs1554669800
NM_000501.4(ELN):c.391C>T (p.Gln131Ter)	rs1791626037
NM_000501.4(ELN):c.414dup (p.Gly139fs)	rs1791633917
NM_000501.4(ELN):c.417del (p.Val141fs)	rs878854452
NM_000501.4(ELN):c.435del (p.Leu146fs)	rs727503024
NM_000501.4(ELN):c.43dup (p.Leu15fs)	rs727503022
NM_000501.4(ELN):c.450C>A (p.Tyr150Ter)	rs137854454
NM_000501.4(ELN):c.450C>G (p.Tyr150Ter)	rs137854454
NM_000501.4(ELN):c.526A>T (p.Lys176Ter)	rs137854455
NM_000501.4(ELN):c.554_555delinsA (p.Ala185fs)
NM_000501.4(ELN):c.582del (p.Phe195fs)	rs2131603022
NM_000501.4(ELN):c.59del (p.Ile20fs)
NM_000501.4(ELN):c.608del (p.Pro203fs)	rs727504581
NM_000501.4(ELN):c.609del (p.Leu204fs)
NM_000501.4(ELN):c.611del (p.Leu204fs)
NM_000501.4(ELN):c.634A>T (p.Lys212Ter)	rs1554672587
NM_000501.4(ELN):c.643+1_643+2delinsAG	rs1554672602
NM_000501.4(ELN):c.65_69dup (p.Ser24fs)	rs1787875866
NM_000501.4(ELN):c.660del (p.Tyr221fs)
NM_000501.4(ELN):c.662dup (p.Tyr221Ter)
NM_000501.4(ELN):c.690T>A (p.Tyr230Ter)	rs1400530335
NM_000501.4(ELN):c.69del (p.Ser24fs)
NM_000501.4(ELN):c.775del (p.Ala259fs)
NM_000501.4(ELN):c.786del (p.Ala263fs)
NM_000501.4(ELN):c.800-2A>G	rs727503027
NM_000501.4(ELN):c.800-3C>G	rs397516433
NM_000501.4(ELN):c.82+1G>A	rs2130830261
NM_000501.4(ELN):c.82+1G>C	rs2130830261
NM_000501.4(ELN):c.840_843dup (p.Val282fs)	rs1794096639
NM_000501.4(ELN):c.862dup (p.Ala288fs)	rs727503028
NM_000501.4(ELN):c.869del (p.Pro290fs)	rs1794104889
NM_000501.4(ELN):c.885del (p.Ile295fs)	rs1794108907
NM_000501.4(ELN):c.889+2T>C	rs727504419
NM_000501.4(ELN):c.890-1G>A	rs1794129841
NM_000501.4(ELN):c.890-2A>G	rs727504434
NM_000501.4(ELN):c.8del (p.Gly3fs)	rs2130826217
NM_000501.4(ELN):c.909_916del (p.Ala304fs)	rs2131856285
NM_000501.4(ELN):c.944A>G (p.Lys315Arg)	rs1554676454
NM_000501.4(ELN):c.948T>A (p.Tyr316Ter)	rs2131858633
NM_000501.4(ELN):c.94del (p.Ala32fs)
NM_000501.4(ELN):c.96del (p.Ile33fs)	rs2131151265
NM_000501.4(ELN):c.[1034_1057dup;1741_1742delinsCA]
NM_001278939.1(ELN):c.748del	rs1793092853

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.