ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 165
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.92T>C (p.Leu31Pro) rs557830930
NM_147127.5(EVC2):c.948C>T (p.Ala316=) rs376050796
NM_153717.3(EVC):c.1040C>T (p.Thr347Met) rs34947207
NM_153717.3(EVC):c.1041G>A (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1041G>T (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1059C>T (p.Ala353=) rs756025432
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003
NM_153717.3(EVC):c.1101C>T (p.Asp367=) rs186537549
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134
NM_153717.3(EVC):c.1128G>A (p.Ala376=) rs111234281
NM_153717.3(EVC):c.114C>T (p.Leu38=) rs1167442380
NM_153717.3(EVC):c.1206C>T (p.His402=) rs756589627
NM_153717.3(EVC):c.1242C>T (p.Ser414=) rs769206763
NM_153717.3(EVC):c.1315+8G>A rs550411377
NM_153717.3(EVC):c.1350G>A (p.Ala450=) rs752575646
NM_153717.3(EVC):c.1464+5C>T rs369734950
NM_153717.3(EVC):c.1482G>A (p.Leu494=) rs371300088
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1536C>T (p.Ala512=) rs368554773
NM_153717.3(EVC):c.1564-7G>A rs201739032
NM_153717.3(EVC):c.1612C>G (p.Leu538Val) rs147772724
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085
NM_153717.3(EVC):c.1653G>A (p.Pro551=) rs151293705
NM_153717.3(EVC):c.1692C>T (p.Asn564=) rs138242443
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1707G>C (p.Leu569=) rs575586341
NM_153717.3(EVC):c.174+7C>T rs1577297959
NM_153717.3(EVC):c.175-10C>T rs113406354
NM_153717.3(EVC):c.1776+7G>A rs750719632
NM_153717.3(EVC):c.1776+7del rs540001390
NM_153717.3(EVC):c.1777-8G>A rs760016211
NM_153717.3(EVC):c.1777-9C>T rs113468936
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230
NM_153717.3(EVC):c.180C>T (p.Asp60=) rs755788871
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557
NM_153717.3(EVC):c.1851C>G (p.Arg617=) rs967986192
NM_153717.3(EVC):c.1854C>A (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004
NM_153717.3(EVC):c.1896G>T (p.Arg632=) rs758327867
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_153717.3(EVC):c.1944G>A (p.Arg648=) rs1577616662
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr) rs149344570
NM_153717.3(EVC):c.1980G>A (p.Thr660=) rs537471996
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys) rs201877358
NM_153717.3(EVC):c.2098-10T>C rs774109576
NM_153717.3(EVC):c.2103G>A (p.Ala701=) rs766383397
NM_153717.3(EVC):c.225C>T (p.Thr75=) rs200161588
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972
NM_153717.3(EVC):c.2305-6C>T rs781705295
NM_153717.3(EVC):c.2322G>A (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2376G>A (p.Ala792=) rs1005244629
NM_153717.3(EVC):c.2412C>T (p.His804=) rs553232598
NM_153717.3(EVC):c.2449+10C>A rs758387379
NM_153717.3(EVC):c.2449+10C>T rs758387379
NM_153717.3(EVC):c.2550G>A (p.Ala850=) rs754053651
NM_153717.3(EVC):c.2562-3C>T rs375960614
NM_153717.3(EVC):c.2562-4C>A rs60082311
NM_153717.3(EVC):c.2624A>T (p.His875Leu) rs200403160
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332
NM_153717.3(EVC):c.2757G>T (p.Leu919=) rs1219650896
NM_153717.3(EVC):c.2782+9C>T rs768005359
NM_153717.3(EVC):c.2805G>A (p.Arg935=) rs143631233
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225
NM_153717.3(EVC):c.2895-4T>C rs775049818
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610
NM_153717.3(EVC):c.312G>A (p.Pro104=) rs763930196
NM_153717.3(EVC):c.339C>T (p.Phe113=) rs750461424
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919
NM_153717.3(EVC):c.462G>A (p.Glu154=) rs1019139111
NM_153717.3(EVC):c.510C>T (p.Asp170=) rs757930422
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690
NM_153717.3(EVC):c.534C>A (p.Val178=) rs774703104
NM_153717.3(EVC):c.549C>T (p.Ser183=) rs201071908
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182
NM_153717.3(EVC):c.759A>G (p.Ser253=) rs201105095
NM_153717.3(EVC):c.867T>G (p.Gly289=) rs758866277
NM_153717.3(EVC):c.882C>T (p.Ile294=) rs375414448
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655
NM_153717.3(EVC):c.933C>T (p.Ile311=) rs759718572
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502

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.