ClinVar Miner

List of variants in gene EVC2 reported as likely benign for Ellis-van Creveld syndrome; Curry-Hall syndrome

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 rs141371552
NM_147127.5(EVC2):c.1083C>T (p.Asn361=) rs142231129
NM_147127.5(EVC2):c.1169G>A (p.Arg390Gln) rs367655073
NM_147127.5(EVC2):c.1260C>G (p.Leu420=) rs150859940
NM_147127.5(EVC2):c.126C>T (p.Leu42=) rs781009014
NM_147127.5(EVC2):c.1452G>A (p.Leu484=) rs137884710
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501
NM_147127.5(EVC2):c.1478T>C (p.Val493Ala) rs202210260
NM_147127.5(EVC2):c.1498C>A (p.Arg500=) rs148248777
NM_147127.5(EVC2):c.1620C>T (p.Ile540=) rs768068789
NM_147127.5(EVC2):c.1677T>C (p.Ala559=) rs761646676
NM_147127.5(EVC2):c.1755G>A (p.Arg585=) rs375393612
NM_147127.5(EVC2):c.1806C>G (p.Leu602=) rs1172959079
NM_147127.5(EVC2):c.1854C>G (p.Ala618=) rs139729159
NM_147127.5(EVC2):c.1869C>T (p.Leu623=) rs557920458
NM_147127.5(EVC2):c.1886+7C>G rs376738238
NM_147127.5(EVC2):c.1899G>C (p.Leu633=) rs750061407
NM_147127.5(EVC2):c.1998G>A (p.Lys666=) rs201835379
NM_147127.5(EVC2):c.2076C>T (p.Ser692=) rs138556477
NM_147127.5(EVC2):c.2079C>A (p.Val693=) rs201171209
NM_147127.5(EVC2):c.2137C>T (p.Leu713=) rs143662104
NM_147127.5(EVC2):c.2160C>G (p.Thr720=) rs749380539
NM_147127.5(EVC2):c.2193C>T (p.Ala731=) rs143262952
NM_147127.5(EVC2):c.2202C>T (p.Asp734=) rs199788223
NM_147127.5(EVC2):c.2247C>T (p.Asp749=) rs748420448
NM_147127.5(EVC2):c.229-4T>G rs375534154
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=) rs372782913
NM_147127.5(EVC2):c.2451C>T (p.Ala817=) rs377709998
NM_147127.5(EVC2):c.2517A>G (p.Ser839=) rs756424912
NM_147127.5(EVC2):c.2571C>A (p.Gly857=) rs533262793
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=) rs764663533
NM_147127.5(EVC2):c.2829+9A>C rs370232376
NM_147127.5(EVC2):c.2832T>C (p.Val944=) rs1380334833
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340
NM_147127.5(EVC2):c.2944C>T (p.Leu982=) rs927421145
NM_147127.5(EVC2):c.2958C>T (p.Thr986=) rs567792423
NM_147127.5(EVC2):c.297T>G (p.Leu99=) rs780711879
NM_147127.5(EVC2):c.2995C>T (p.Leu999=) rs745415485
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020
NM_147127.5(EVC2):c.3048G>A (p.Ser1016=) rs182310332
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) rs150444745
NM_147127.5(EVC2):c.3300C>T (p.Val1100=) rs1577106532
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met) rs200105743
NM_147127.5(EVC2):c.3414G>A (p.Thr1138=) rs768312867
NM_147127.5(EVC2):c.3489C>T (p.Thr1163=) rs370368827
NM_147127.5(EVC2):c.3519C>T (p.Ser1173=) rs749446584
NM_147127.5(EVC2):c.3540C>T (p.Ala1180=) rs373829825
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=) rs762696562
NM_147127.5(EVC2):c.354C>G (p.Ala118=) rs915274674
NM_147127.5(EVC2):c.3558-6C>T rs527866261
NM_147127.5(EVC2):c.3660-10A>G rs371900491
NM_147127.5(EVC2):c.3732G>A (p.Leu1244=) rs774269538
NM_147127.5(EVC2):c.3771T>C (p.Ile1257=) rs777144379
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=) rs138166440
NM_147127.5(EVC2):c.3882C>T (p.Asn1294=) rs921952317
NM_147127.5(EVC2):c.408G>A (p.Lys136=) rs763680760
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro) rs143388379
NM_147127.5(EVC2):c.531G>A (p.Ser177=) rs146658261
NM_147127.5(EVC2):c.576C>G (p.Thr192=) rs764691234
NM_147127.5(EVC2):c.588G>A (p.Ser196=) rs566778000
NM_147127.5(EVC2):c.615G>A (p.Leu205=) rs140864640
NM_147127.5(EVC2):c.669G>A (p.Ser223=) rs143697185
NM_147127.5(EVC2):c.707-5C>T rs781300676
NM_147127.5(EVC2):c.759C>T (p.Leu253=) rs746241303
NM_147127.5(EVC2):c.765C>T (p.Asn255=) rs139129327
NM_147127.5(EVC2):c.810G>A (p.Ser270=) rs761317948
NM_147127.5(EVC2):c.852A>G (p.Thr284=) rs1444259253
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=) rs143027693
NM_147127.5(EVC2):c.903G>T (p.Gly301=) rs745889694
NM_147127.5(EVC2):c.948C>T (p.Ala316=) rs376050796

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.