ClinVar Miner

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

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ClinVar version:
Total variants: 165
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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

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