ClinVar Miner

List of variants in gene EVC2 reported as likely benign for acrofacial dysostosis

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 82
Download table as spreadsheet
HGVS dbSNP
NM_147127.5(EVC2):c.1005+3G>A
NM_147127.5(EVC2):c.1083C>T (p.Asn361=)
NM_147127.5(EVC2):c.1169G>A (p.Arg390Gln) rs367655073
NM_147127.5(EVC2):c.1260C>G (p.Leu420=)
NM_147127.5(EVC2):c.126C>T (p.Leu42=) rs781009014
NM_147127.5(EVC2):c.1452G>A (p.Leu484=)
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501
NM_147127.5(EVC2):c.1478T>C (p.Val493Ala)
NM_147127.5(EVC2):c.1498C>A (p.Arg500=) rs148248777
NM_147127.5(EVC2):c.1620C>T (p.Ile540=)
NM_147127.5(EVC2):c.1677T>C (p.Ala559=)
NM_147127.5(EVC2):c.1755G>A (p.Arg585=)
NM_147127.5(EVC2):c.1806C>G (p.Leu602=)
NM_147127.5(EVC2):c.1854C>G (p.Ala618=)
NM_147127.5(EVC2):c.1869C>T (p.Leu623=)
NM_147127.5(EVC2):c.1886+7C>G
NM_147127.5(EVC2):c.1899G>C (p.Leu633=)
NM_147127.5(EVC2):c.1998G>A (p.Lys666=)
NM_147127.5(EVC2):c.2076C>T (p.Ser692=)
NM_147127.5(EVC2):c.2079C>A (p.Val693=)
NM_147127.5(EVC2):c.2137C>T (p.Leu713=)
NM_147127.5(EVC2):c.2160C>G (p.Thr720=)
NM_147127.5(EVC2):c.2193C>T (p.Ala731=)
NM_147127.5(EVC2):c.2202C>T (p.Asp734=)
NM_147127.5(EVC2):c.2247C>T (p.Asp749=)
NM_147127.5(EVC2):c.229-4T>G
NM_147127.5(EVC2):c.2304G>C (p.Val768=) rs139936564
NM_147127.5(EVC2):c.2340C>T (p.His780=) rs150691722
NM_147127.5(EVC2):c.2350A>G (p.Met784Val) rs202191109
NM_147127.5(EVC2):c.2397C>T (p.Asp799=)
NM_147127.5(EVC2):c.2451C>T (p.Ala817=)
NM_147127.5(EVC2):c.2517A>G (p.Ser839=) rs756424912
NM_147127.5(EVC2):c.2571C>A (p.Gly857=)
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala) rs190540235
NM_147127.5(EVC2):c.2667C>T (p.Phe889=) rs201173415
NM_147127.5(EVC2):c.2793C>T (p.Leu931=)
NM_147127.5(EVC2):c.2829+9A>C rs370232376
NM_147127.5(EVC2):c.2832T>C (p.Val944=)
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340
NM_147127.5(EVC2):c.2944C>T (p.Leu982=)
NM_147127.5(EVC2):c.2958C>T (p.Thr986=)
NM_147127.5(EVC2):c.297T>G (p.Leu99=)
NM_147127.5(EVC2):c.2995C>T (p.Leu999=)
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys)
NM_147127.5(EVC2):c.3048G>A (p.Ser1016=)
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=) rs555652075
NM_147127.5(EVC2):c.3272+7C>T rs201048030
NM_147127.5(EVC2):c.3288A>G (p.Gln1096=) rs138902279
NM_147127.5(EVC2):c.328T>C (p.Phe110Leu)
NM_147127.5(EVC2):c.3300C>T (p.Val1100=)
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met)
NM_147127.5(EVC2):c.3414G>A (p.Thr1138=)
NM_147127.5(EVC2):c.3489C>T (p.Thr1163=)
NM_147127.5(EVC2):c.3519C>T (p.Ser1173=)
NM_147127.5(EVC2):c.3540C>T (p.Ala1180=)
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=)
NM_147127.5(EVC2):c.354C>G (p.Ala118=) rs915274674
NM_147127.5(EVC2):c.3558-6C>T
NM_147127.5(EVC2):c.3660-10A>G
NM_147127.5(EVC2):c.3732G>A (p.Leu1244=)
NM_147127.5(EVC2):c.3771T>C (p.Ile1257=)
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=) rs201651890
NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile) rs771435248
NM_147127.5(EVC2):c.3864T>A (p.Pro1288=)
NM_147127.5(EVC2):c.3882C>T (p.Asn1294=)
NM_147127.5(EVC2):c.408G>A (p.Lys136=)
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro) rs143388379
NM_147127.5(EVC2):c.531G>A (p.Ser177=)
NM_147127.5(EVC2):c.576C>G (p.Thr192=)
NM_147127.5(EVC2):c.588G>A (p.Ser196=)
NM_147127.5(EVC2):c.615G>A (p.Leu205=) rs140864640
NM_147127.5(EVC2):c.669G>A (p.Ser223=)
NM_147127.5(EVC2):c.707-5C>T
NM_147127.5(EVC2):c.759C>T (p.Leu253=)
NM_147127.5(EVC2):c.765C>T (p.Asn255=) rs139129327
NM_147127.5(EVC2):c.810G>A (p.Ser270=)
NM_147127.5(EVC2):c.852A>G (p.Thr284=)
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala) rs201083070
NM_147127.5(EVC2):c.894C>T (p.His298=)
NM_147127.5(EVC2):c.903G>T (p.Gly301=)
NM_147127.5(EVC2):c.948C>T (p.Ala316=)

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.