ClinVar Miner

List of variants in gene SYNE1 reported as uncertain significance for Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 393
Download table as spreadsheet
HGVS dbSNP
NM_182961.4(SYNE1):c.10060G>C (p.Glu3354Gln) rs773410652
NM_182961.4(SYNE1):c.10070C>T (p.Pro3357Leu) rs748499952
NM_182961.4(SYNE1):c.10078C>A (p.Gln3360Lys)
NM_182961.4(SYNE1):c.10112C>T (p.Ala3371Val) rs748579024
NM_182961.4(SYNE1):c.10181A>T (p.Tyr3394Phe)
NM_182961.4(SYNE1):c.1034A>C (p.Gln345Pro)
NM_182961.4(SYNE1):c.1047+4T>G
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) rs148522587
NM_182961.4(SYNE1):c.10597C>A (p.Arg3533Ser) rs776816480
NM_182961.4(SYNE1):c.10709G>A (p.Arg3570Gln)
NM_182961.4(SYNE1):c.10784A>G (p.Asn3595Ser) rs148212715
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met) rs143034104
NM_182961.4(SYNE1):c.11179A>C (p.Asn3727His)
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744
NM_182961.4(SYNE1):c.11309A>G (p.Lys3770Arg)
NM_182961.4(SYNE1):c.11413C>T (p.Arg3805Trp)
NM_182961.4(SYNE1):c.11429C>T (p.Thr3810Met) rs375577011
NM_182961.4(SYNE1):c.11486C>T (p.Thr3829Ile)
NM_182961.4(SYNE1):c.11656C>A (p.Leu3886Met)
NM_182961.4(SYNE1):c.11668G>A (p.Val3890Ile)
NM_182961.4(SYNE1):c.11669T>A (p.Val3890Asp)
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser) rs180727534
NM_182961.4(SYNE1):c.11999C>A (p.Ala4000Glu)
NM_182961.4(SYNE1):c.12035G>A (p.Gly4012Asp)
NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile) rs199774691
NM_182961.4(SYNE1):c.12122G>A (p.Arg4041Gln) rs771461121
NM_182961.4(SYNE1):c.12127G>A (p.Asp4043Asn)
NM_182961.4(SYNE1):c.12181C>T (p.Pro4061Ser) rs780777858
NM_182961.4(SYNE1):c.12182C>T (p.Pro4061Leu) rs148036239
NM_182961.4(SYNE1):c.12203G>A (p.Ser4068Asn)
NM_182961.4(SYNE1):c.12217A>G (p.Ile4073Val) rs886044158
NM_182961.4(SYNE1):c.12291T>G (p.Cys4097Trp) rs1554492224
NM_182961.4(SYNE1):c.12351+4A>C rs375086691
NM_182961.4(SYNE1):c.12391G>T (p.Gly4131Cys) rs139139296
NM_182961.4(SYNE1):c.12667C>T (p.Arg4223Cys)
NM_182961.4(SYNE1):c.12734G>A (p.Cys4245Tyr)
NM_182961.4(SYNE1):c.12795A>G (p.Arg4265=) rs1554474578
NM_182961.4(SYNE1):c.12829G>A (p.Ala4277Thr)
NM_182961.4(SYNE1):c.12901A>G (p.Lys4301Glu)
NM_182961.4(SYNE1):c.13050G>T (p.Gln4350His) rs34464554
NM_182961.4(SYNE1):c.13102G>A (p.Ala4368Thr) rs201900423
NM_182961.4(SYNE1):c.1330C>T (p.Arg444Trp) rs75153800
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) rs139075013
NM_182961.4(SYNE1):c.13435C>T (p.Arg4479Cys) rs778601377
NM_182961.4(SYNE1):c.13436G>A (p.Arg4479His) rs768085752
NM_182961.4(SYNE1):c.13436G>T (p.Arg4479Leu)
NM_182961.4(SYNE1):c.13532C>T (p.Thr4511Ile) rs1554471456
NM_182961.4(SYNE1):c.13628A>T (p.Tyr4543Phe) rs138770612
NM_182961.4(SYNE1):c.13718A>C (p.Lys4573Thr)
NM_182961.4(SYNE1):c.13751T>A (p.Val4584Asp) rs968829958
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238
NM_182961.4(SYNE1):c.13832A>C (p.Gln4611Pro)
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His) rs147667464
NM_182961.4(SYNE1):c.13851_13853TCT[1] (p.Leu4620del) rs1085307610
NM_182961.4(SYNE1):c.13895C>T (p.Ser4632Leu)
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn) rs142388112
NM_182961.4(SYNE1):c.1391A>G (p.His464Arg) rs141397112
NM_182961.4(SYNE1):c.13949G>A (p.Arg4650Gln)
NM_182961.4(SYNE1):c.13952A>G (p.Gln4651Arg) rs374697325
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln) rs144963785
NM_182961.4(SYNE1):c.14116G>A (p.Val4706Ile)
NM_182961.4(SYNE1):c.14152G>A (p.Ala4718Thr)
NM_182961.4(SYNE1):c.14164G>A (p.Glu4722Lys) rs35484093
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343
NM_182961.4(SYNE1):c.14365C>G (p.Gln4789Glu)
NM_182961.4(SYNE1):c.14423C>T (p.Thr4808Met) rs373040273
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln) rs141883764
NM_182961.4(SYNE1):c.14577G>C (p.Gln4859His) rs369433602
NM_182961.4(SYNE1):c.14671A>G (p.Thr4891Ala)
NM_182961.4(SYNE1):c.14695T>C (p.Trp4899Arg)
NM_182961.4(SYNE1):c.148G>A (p.Val50Met)
NM_182961.4(SYNE1):c.14902G>A (p.Ala4968Thr) rs745978878
NM_182961.4(SYNE1):c.14945G>A (p.Arg4982His) rs754495941
NM_182961.4(SYNE1):c.14955G>C (p.Gln4985His) rs890021376
NM_182961.4(SYNE1):c.14991G>T (p.Arg4997Ser) rs201306174
NM_182961.4(SYNE1):c.1502T>C (p.Met501Thr) rs202149617
NM_182961.4(SYNE1):c.15089A>G (p.Glu5030Gly) rs1563087715
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu) rs138368397
NM_182961.4(SYNE1):c.15580C>T (p.Arg5194Cys)
NM_182961.4(SYNE1):c.15661A>G (p.Lys5221Glu) rs764500952
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856
NM_182961.4(SYNE1):c.15908G>C (p.Arg5303Pro) rs537825329
NM_182961.4(SYNE1):c.16021G>A (p.Glu5341Lys) rs765080592
NM_182961.4(SYNE1):c.16237-3del rs752661566
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806
NM_182961.4(SYNE1):c.1632+6T>C rs758756977
NM_182961.4(SYNE1):c.16552C>T (p.Arg5518Trp) rs377410590
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln) rs150604289
NM_182961.4(SYNE1):c.16593A>T (p.Glu5531Asp) rs769306377
NM_182961.4(SYNE1):c.16619T>C (p.Leu5540Ser) rs1563012099
NM_182961.4(SYNE1):c.16687C>T (p.Arg5563Trp) rs375097544
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604
NM_182961.4(SYNE1):c.16832G>A (p.Arg5611Gln)
NM_182961.4(SYNE1):c.16850G>A (p.Arg5617Gln) rs141550859
NM_182961.4(SYNE1):c.169A>G (p.Met57Val) rs1031712545
NM_182961.4(SYNE1):c.17014C>T (p.Arg5672Trp) rs780794124
NM_182961.4(SYNE1):c.17029T>C (p.Ser5677Pro)
NM_182961.4(SYNE1):c.1708T>C (p.Tyr570His) rs199962439
NM_182961.4(SYNE1):c.17150A>C (p.Glu5717Ala) rs780396166
NM_182961.4(SYNE1):c.17332A>G (p.Ile5778Val)
NM_182961.4(SYNE1):c.17347G>C (p.Glu5783Gln) rs754105532
NM_182961.4(SYNE1):c.17419A>G (p.Met5807Val) rs763218931
NM_182961.4(SYNE1):c.17458G>A (p.Glu5820Lys)
NM_182961.4(SYNE1):c.17542-5G>A rs776747142
NM_182961.4(SYNE1):c.17639G>T (p.Arg5880Leu) rs767844376
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933
NM_182961.4(SYNE1):c.17848G>C (p.Val5950Leu) rs200589166
NM_182961.4(SYNE1):c.17974C>G (p.Pro5992Ala) rs200701182
NM_182961.4(SYNE1):c.17990A>G (p.Glu5997Gly) rs1554363340
NM_182961.4(SYNE1):c.18004G>A (p.Glu6002Lys)
NM_182961.4(SYNE1):c.18080A>G (p.Glu6027Gly) rs780920250
NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys) rs142229551
NM_182961.4(SYNE1):c.18103G>T (p.Ala6035Ser)
NM_182961.4(SYNE1):c.18106G>C (p.Asp6036His) rs147615757
NM_182961.4(SYNE1):c.18208-4A>G
NM_182961.4(SYNE1):c.18208G>A (p.Glu6070Lys) rs886043015
NM_182961.4(SYNE1):c.18570G>A (p.Met6190Ile) rs886044368
NM_182961.4(SYNE1):c.18602A>T (p.Asp6201Val)
NM_182961.4(SYNE1):c.1861A>G (p.Thr621Ala) rs146618884
NM_182961.4(SYNE1):c.18620C>T (p.Thr6207Met)
NM_182961.4(SYNE1):c.18622C>G (p.Gln6208Glu) rs558425673
NM_182961.4(SYNE1):c.18631G>A (p.Gly6211Ser) rs149624155
NM_182961.4(SYNE1):c.18655G>C (p.Ala6219Pro)
NM_182961.4(SYNE1):c.18680G>T (p.Arg6227Leu) rs778929049
NM_182961.4(SYNE1):c.18760C>T (p.Arg6254Cys) rs139449273
NM_182961.4(SYNE1):c.18817G>A (p.Glu6273Lys) rs201346604
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His) rs759556319
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe) rs141934037
NM_182961.4(SYNE1):c.19015T>G (p.Tyr6339Asp)
NM_182961.4(SYNE1):c.19114G>A (p.Ala6372Thr) rs769911507
NM_182961.4(SYNE1):c.19117A>G (p.Lys6373Glu) rs1554285472
NM_182961.4(SYNE1):c.19130T>C (p.Ile6377Thr)
NM_182961.4(SYNE1):c.1913A>G (p.Gln638Arg) rs1554756030
NM_182961.4(SYNE1):c.19228G>A (p.Glu6410Lys) rs143554730
NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu) rs150700669
NM_182961.4(SYNE1):c.19276A>C (p.Ile6426Leu)
NM_182961.4(SYNE1):c.19345G>T (p.Asp6449Tyr) rs1315831856
NM_182961.4(SYNE1):c.19351C>G (p.Arg6451Gly)
NM_182961.4(SYNE1):c.19386G>C (p.Leu6462Phe) rs1453005046
NM_182961.4(SYNE1):c.19424G>A (p.Arg6475Gln) rs781427258
NM_182961.4(SYNE1):c.19438A>C (p.Lys6480Gln)
NM_182961.4(SYNE1):c.19483G>A (p.Val6495Met)
NM_182961.4(SYNE1):c.19544T>C (p.Phe6515Ser) rs747674900
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947
NM_182961.4(SYNE1):c.19636C>T (p.Arg6546Cys)
NM_182961.4(SYNE1):c.19640G>A (p.Gly6547Asp) rs766241487
NM_182961.4(SYNE1):c.19729C>T (p.Arg6577Trp) rs368534747
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln) rs150387338
NM_182961.4(SYNE1):c.19893+6T>C rs377413112
NM_182961.4(SYNE1):c.20029G>T (p.Ala6677Ser)
NM_182961.4(SYNE1):c.20111A>T (p.Gln6704Leu) rs1189558235
NM_182961.4(SYNE1):c.20143G>A (p.Val6715Met) rs145185413
NM_182961.4(SYNE1):c.20157G>C (p.Glu6719Asp) rs769305344
NM_182961.4(SYNE1):c.20159A>C (p.Glu6720Ala) rs367790193
NM_182961.4(SYNE1):c.20183G>A (p.Arg6728His) rs139384691
NM_182961.4(SYNE1):c.2030G>A (p.Arg677His) rs767684007
NM_182961.4(SYNE1):c.20441C>T (p.Ala6814Val) rs1562385964
NM_182961.4(SYNE1):c.20546T>C (p.Val6849Ala) rs886043522
NM_182961.4(SYNE1):c.20549A>T (p.Asp6850Val) rs773506774
NM_182961.4(SYNE1):c.20692G>A (p.Val6898Ile)
NM_182961.4(SYNE1):c.20712+7A>T
NM_182961.4(SYNE1):c.20957G>A (p.Arg6986His) rs772675312
NM_182961.4(SYNE1):c.21029T>A (p.Val7010Glu) rs141275966
NM_182961.4(SYNE1):c.21039+6C>G rs368575705
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln) rs143639400
NM_182961.4(SYNE1):c.21189C>G (p.Asp7063Glu) rs139062689
NM_182961.4(SYNE1):c.21271A>C (p.Asn7091His) rs777618601
NM_182961.4(SYNE1):c.21349A>T (p.Met7117Leu)
NM_182961.4(SYNE1):c.21469C>T (p.Arg7157Cys)
NM_182961.4(SYNE1):c.2147G>A (p.Cys716Tyr)
NM_182961.4(SYNE1):c.21502G>A (p.Val7168Ile) rs760451139
NM_182961.4(SYNE1):c.21511G>A (p.Asp7171Asn)
NM_182961.4(SYNE1):c.21560T>C (p.Leu7187Ser) rs778441411
NM_182961.4(SYNE1):c.21602G>A (p.Cys7201Tyr) rs794727041
NM_182961.4(SYNE1):c.21613G>A (p.Val7205Met) rs377449974
NM_182961.4(SYNE1):c.2174C>T (p.Thr725Met)
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln) rs61742716
NM_182961.4(SYNE1):c.21822T>G (p.Ile7274Met) rs770171807
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr) rs145494541
NM_182961.4(SYNE1):c.21989G>T (p.Ser7330Ile)
NM_182961.4(SYNE1):c.22003G>A (p.Ala7335Thr)
NM_182961.4(SYNE1):c.22060T>C (p.Tyr7354His)
NM_182961.4(SYNE1):c.22072G>T (p.Ala7358Ser) rs145518327
NM_182961.4(SYNE1):c.22118A>T (p.Glu7373Val)
NM_182961.4(SYNE1):c.22153G>A (p.Asp7385Asn) rs886043280
NM_182961.4(SYNE1):c.22171G>A (p.Glu7391Lys) rs751761981
NM_182961.4(SYNE1):c.2224G>A (p.Val742Ile)
NM_182961.4(SYNE1):c.22346+6G>T rs368678916
NM_182961.4(SYNE1):c.22405A>G (p.Met7469Val)
NM_182961.4(SYNE1):c.22445A>G (p.Glu7482Gly)
NM_182961.4(SYNE1):c.22492G>A (p.Glu7498Lys)
NM_182961.4(SYNE1):c.22493A>C (p.Glu7498Ala) rs774655615
NM_182961.4(SYNE1):c.225+5G>C
NM_182961.4(SYNE1):c.22519C>T (p.Arg7507Cys)
NM_182961.4(SYNE1):c.22520G>A (p.Arg7507His)
NM_182961.4(SYNE1):c.22589+4G>T rs563408259
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val) rs146320179
NM_182961.4(SYNE1):c.22873G>C (p.Val7625Leu) rs749743156
NM_182961.4(SYNE1):c.22896_22898del (p.Leu7633del) rs1360697609
NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp) rs142117628
NM_182961.4(SYNE1):c.22986A>C (p.Glu7662Asp) rs763100950
NM_182961.4(SYNE1):c.2299A>C (p.Thr767Pro)
NM_182961.4(SYNE1):c.23051A>T (p.Asp7684Val) rs139077054
NM_182961.4(SYNE1):c.23102C>T (p.Pro7701Leu)
NM_182961.4(SYNE1):c.23138G>A (p.Arg7713His) rs750911961
NM_182961.4(SYNE1):c.23162T>C (p.Val7721Ala)
NM_182961.4(SYNE1):c.23196C>G (p.Ser7732Arg) rs1554518143
NM_182961.4(SYNE1):c.23222A>G (p.Tyr7741Cys) rs34974663
NM_182961.4(SYNE1):c.23248C>T (p.Leu7750Phe)
NM_182961.4(SYNE1):c.23258G>A (p.Arg7753His)
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile) rs150550013
NM_182961.4(SYNE1):c.23562G>T (p.Glu7854Asp) rs894257787
NM_182961.4(SYNE1):c.2359_2360delinsAA (p.Ala787Lys)
NM_182961.4(SYNE1):c.23659G>A (p.Val7887Met) rs143842011
NM_182961.4(SYNE1):c.23707C>T (p.His7903Tyr) rs886042801
NM_182961.4(SYNE1):c.23935C>T (p.Arg7979Trp) rs762991088
NM_182961.4(SYNE1):c.23950T>C (p.Cys7984Arg)
NM_182961.4(SYNE1):c.23990C>T (p.Thr7997Met) rs757366114
NM_182961.4(SYNE1):c.23C>T (p.Ser8Phe) rs139600654
NM_182961.4(SYNE1):c.24191G>A (p.Arg8064His) rs1042685641
NM_182961.4(SYNE1):c.24194G>A (p.Arg8065His)
NM_182961.4(SYNE1):c.241C>T (p.Arg81Cys) rs375917264
NM_182961.4(SYNE1):c.24211C>T (p.Arg8071Cys)
NM_182961.4(SYNE1):c.242G>A (p.Arg81His) rs761189574
NM_182961.4(SYNE1):c.24338T>G (p.Phe8113Cys) rs769930534
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) rs144056525
NM_182961.4(SYNE1):c.24354C>G (p.Asp8118Glu) rs149940427
NM_182961.4(SYNE1):c.24488T>C (p.Ile8163Thr) rs139643725
NM_182961.4(SYNE1):c.244C>T (p.Arg82Trp) rs772761179
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu) rs143900928
NM_182961.4(SYNE1):c.24605G>A (p.Arg8202His) rs376102438
NM_182961.4(SYNE1):c.24634C>T (p.Arg8212Cys) rs139885317
NM_182961.4(SYNE1):c.24652G>A (p.Asp8218Asn) rs267600861
NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln) rs201548223
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001
NM_182961.4(SYNE1):c.24724G>A (p.Asp8242Asn)
NM_182961.4(SYNE1):c.24784G>A (p.Ala8262Thr) rs886043013
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368
NM_182961.4(SYNE1):c.24832G>A (p.Val8278Met)
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly) rs138407813
NM_182961.4(SYNE1):c.24959G>A (p.Gly8320Glu)
NM_182961.4(SYNE1):c.24972A>C (p.Leu8324Phe) rs1554420700
NM_182961.4(SYNE1):c.24977-1718G>A rs370143116
NM_182961.4(SYNE1):c.24977-1719A>G
NM_182961.4(SYNE1):c.24977-1785A>T rs372305836
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly) rs142690727
NM_182961.4(SYNE1):c.24991C>G (p.Leu8331Val) rs776807564
NM_182961.4(SYNE1):c.25046T>C (p.Ile8349Thr) rs927451522
NM_182961.4(SYNE1):c.25085C>T (p.Thr8362Met) rs147814237
NM_182961.4(SYNE1):c.25086G>A (p.Thr8362=) rs377302991
NM_182961.4(SYNE1):c.25159G>T (p.Val8387Leu) rs119103247
NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg) rs375476506
NM_182961.4(SYNE1):c.25241C>T (p.Thr8414Met) rs759512753
NM_182961.4(SYNE1):c.2528G>A (p.Arg843His) rs191723029
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn) rs139679692
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248
NM_182961.4(SYNE1):c.25403G>A (p.Arg8468His) rs143049227
NM_182961.4(SYNE1):c.25484G>A (p.Arg8495His) rs558046278
NM_182961.4(SYNE1):c.25568G>A (p.Arg8523His) rs759577495
NM_182961.4(SYNE1):c.25637A>G (p.Gln8546Arg) rs529921934
NM_182961.4(SYNE1):c.25705A>G (p.Ile8569Val) rs1260198851
NM_182961.4(SYNE1):c.25735A>G (p.Ile8579Val) rs200178554
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val) rs746864807
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542
NM_182961.4(SYNE1):c.25C>T (p.Arg9Trp) rs200346529
NM_182961.4(SYNE1):c.26001+4A>G rs746958913
NM_182961.4(SYNE1):c.26023G>A (p.Ala8675Thr) rs1554376325
NM_182961.4(SYNE1):c.26044G>C (p.Gly8682Arg) rs201664645
NM_182961.4(SYNE1):c.2684C>T (p.Thr895Met) rs373633207
NM_182961.4(SYNE1):c.2728A>T (p.Ser910Cys) rs141214076
NM_182961.4(SYNE1):c.2761C>T (p.His921Tyr)
NM_182961.4(SYNE1):c.2959G>A (p.Asp987Asn)
NM_182961.4(SYNE1):c.2975A>C (p.Gln992Pro) rs1564137172
NM_182961.4(SYNE1):c.3028-4G>A rs1380560355
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val) rs143093185
NM_182961.4(SYNE1):c.310-468G>A rs143635963
NM_182961.4(SYNE1):c.3109G>A (p.Glu1037Lys) rs545152377
NM_182961.4(SYNE1):c.3131G>A (p.Arg1044Gln) rs199888697
NM_182961.4(SYNE1):c.3256G>A (p.Val1086Met)
NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp) rs147841761
NM_182961.4(SYNE1):c.3388A>T (p.Thr1130Ser) rs1194769025
NM_182961.4(SYNE1):c.3433A>G (p.Thr1145Ala) rs148733093
NM_182961.4(SYNE1):c.3436C>G (p.Gln1146Glu) rs760256766
NM_182961.4(SYNE1):c.3446G>A (p.Gly1149Glu)
NM_182961.4(SYNE1):c.3454G>A (p.Gly1152Ser) rs749547744
NM_182961.4(SYNE1):c.3499G>A (p.Val1167Ile)
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489
NM_182961.4(SYNE1):c.3541C>T (p.Leu1181Phe) rs1203451912
NM_182961.4(SYNE1):c.3647C>T (p.Ala1216Val)
NM_182961.4(SYNE1):c.3669+4C>G rs376511242
NM_182961.4(SYNE1):c.3917T>C (p.Leu1306Pro)
NM_182961.4(SYNE1):c.3933C>A (p.His1311Gln) rs774093065
NM_182961.4(SYNE1):c.3982C>T (p.Arg1328Trp) rs1465224604
NM_182961.4(SYNE1):c.4032A>G (p.Arg1344=) rs762887399
NM_182961.4(SYNE1):c.4121G>A (p.Ser1374Asn) rs1554707111
NM_182961.4(SYNE1):c.4125A>T (p.Leu1375Phe) rs544182159
NM_182961.4(SYNE1):c.4156T>C (p.Ser1386Pro) rs1554696981
NM_182961.4(SYNE1):c.41T>A (p.Ile14Asn)
NM_182961.4(SYNE1):c.4274A>T (p.Glu1425Val) rs767783076
NM_182961.4(SYNE1):c.4411G>A (p.Ala1471Thr) rs1350630909
NM_182961.4(SYNE1):c.4439A>G (p.Asp1480Gly)
NM_182961.4(SYNE1):c.4471C>G (p.Gln1491Glu) rs144276162
NM_182961.4(SYNE1):c.4477A>G (p.Ile1493Val) rs139544072
NM_182961.4(SYNE1):c.4524G>T (p.Gln1508His) rs1378400021
NM_182961.4(SYNE1):c.4528T>C (p.Phe1510Leu) rs1554687302
NM_182961.4(SYNE1):c.454G>A (p.Ala152Thr)
NM_182961.4(SYNE1):c.4562G>A (p.Arg1521Gln)
NM_182961.4(SYNE1):c.4659G>C (p.Gln1553His)
NM_182961.4(SYNE1):c.4668G>C (p.Lys1556Asn) rs774194598
NM_182961.4(SYNE1):c.4676A>T (p.Glu1559Val) rs1554686616
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser) rs199769508
NM_182961.4(SYNE1):c.4735A>G (p.Ile1579Val)
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999
NM_182961.4(SYNE1):c.5032G>A (p.Ala1678Thr) rs1554680800
NM_182961.4(SYNE1):c.5056T>C (p.Ser1686Pro)
NM_182961.4(SYNE1):c.508C>T (p.Arg170Trp) rs777175001
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys) rs140005424
NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp) rs150702500
NM_182961.4(SYNE1):c.5146C>G (p.Leu1716Val)
NM_182961.4(SYNE1):c.5170T>C (p.Phe1724Leu) rs141996707
NM_182961.4(SYNE1):c.5230G>A (p.Glu1744Lys)
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg) rs146244669
NM_182961.4(SYNE1):c.5360A>G (p.Glu1787Gly) rs201366911
NM_182961.4(SYNE1):c.5390T>C (p.Met1797Thr) rs1481121106
NM_182961.4(SYNE1):c.5491G>T (p.Gly1831Cys)
NM_182961.4(SYNE1):c.5675A>G (p.Glu1892Gly) rs757761843
NM_182961.4(SYNE1):c.5780A>G (p.Asp1927Gly) rs144732736
NM_182961.4(SYNE1):c.578G>A (p.Gly193Asp)
NM_182961.4(SYNE1):c.582-6A>G rs199728167
NM_182961.4(SYNE1):c.5828A>G (p.Glu1943Gly) rs963256304
NM_182961.4(SYNE1):c.592A>G (p.Ile198Val)
NM_182961.4(SYNE1):c.6032G>C (p.Arg2011Pro) rs1199419170
NM_182961.4(SYNE1):c.6151G>C (p.Ala2051Pro)
NM_182961.4(SYNE1):c.6185G>T (p.Arg2062Leu) rs542032376
NM_182961.4(SYNE1):c.6319A>G (p.Ser2107Gly)
NM_182961.4(SYNE1):c.6332C>T (p.Thr2111Ile) rs760835706
NM_182961.4(SYNE1):c.6549G>C (p.Glu2183Asp) rs144797998
NM_182961.4(SYNE1):c.6550A>G (p.Lys2184Glu)
NM_182961.4(SYNE1):c.6649G>A (p.Val2217Ile) rs377531174
NM_182961.4(SYNE1):c.6812C>T (p.Pro2271Leu) rs555536675
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met) rs190867604
NM_182961.4(SYNE1):c.6982A>G (p.Met2328Val) rs1250755900
NM_182961.4(SYNE1):c.6984G>A (p.Met2328Ile) rs372524102
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn) rs142747430
NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala) rs199558070
NM_182961.4(SYNE1):c.7309G>A (p.Gly2437Ser)
NM_182961.4(SYNE1):c.7402C>G (p.Gln2468Glu)
NM_182961.4(SYNE1):c.7475C>A (p.Ala2492Asp) rs773876679
NM_182961.4(SYNE1):c.7523A>T (p.Gln2508Leu) rs201127061
NM_182961.4(SYNE1):c.7603G>A (p.Glu2535Lys)
NM_182961.4(SYNE1):c.7775G>T (p.Gly2592Val)
NM_182961.4(SYNE1):c.781G>A (p.Val261Ile) rs144069436
NM_182961.4(SYNE1):c.7933G>A (p.Asp2645Asn) rs775185806
NM_182961.4(SYNE1):c.7951G>A (p.Glu2651Lys)
NM_182961.4(SYNE1):c.7988G>T (p.Arg2663Leu) rs370644295
NM_182961.4(SYNE1):c.7989G>T (p.Arg2663=) rs1268841274
NM_182961.4(SYNE1):c.8014C>G (p.Leu2672Val) rs1563634104
NM_182961.4(SYNE1):c.8069A>C (p.Gln2690Pro)
NM_182961.4(SYNE1):c.8311G>A (p.Val2771Ile) rs374862218
NM_182961.4(SYNE1):c.83T>G (p.Val28Gly) rs1554878579
NM_182961.4(SYNE1):c.8546T>C (p.Val2849Ala) rs375079396
NM_182961.4(SYNE1):c.8606T>C (p.Met2869Thr) rs371025400
NM_182961.4(SYNE1):c.862G>A (p.Ala288Thr) rs770907182
NM_182961.4(SYNE1):c.8705C>T (p.Ser2902Leu) rs576979843
NM_182961.4(SYNE1):c.8716G>A (p.Glu2906Lys)
NM_182961.4(SYNE1):c.8762C>T (p.Thr2921Met) rs371229610
NM_182961.4(SYNE1):c.8779C>G (p.Arg2927Gly) rs372633466
NM_182961.4(SYNE1):c.8780G>A (p.Arg2927His) rs148998248
NM_182961.4(SYNE1):c.8785G>A (p.Asp2929Asn) rs143313866
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val) rs756300560
NM_182961.4(SYNE1):c.8888C>A (p.Ala2963Asp) rs570962334
NM_182961.4(SYNE1):c.9009+5G>T rs1252397404
NM_182961.4(SYNE1):c.9040C>T (p.Pro3014Ser) rs200939886
NM_182961.4(SYNE1):c.9052G>T (p.Asp3018Tyr)
NM_182961.4(SYNE1):c.9091A>G (p.Arg3031Gly) rs144643941
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter) rs199708211
NM_182961.4(SYNE1):c.9262G>A (p.Ala3088Thr) rs398123005
NM_182961.4(SYNE1):c.9280C>A (p.Pro3094Thr)
NM_182961.4(SYNE1):c.9374T>C (p.Leu3125Pro) rs1563477104
NM_182961.4(SYNE1):c.9394A>T (p.Ser3132Cys) rs138481762
NM_182961.4(SYNE1):c.941G>T (p.Arg314Ile) rs1554795128
NM_182961.4(SYNE1):c.9572A>T (p.Lys3191Ile) rs1563437567
NM_182961.4(SYNE1):c.9577G>A (p.Glu3193Lys)
NM_182961.4(SYNE1):c.9584T>C (p.Met3195Thr) rs1398398021
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys) rs749550071
NM_182961.4(SYNE1):c.9605G>A (p.Arg3202His) rs146769373
NM_182961.4(SYNE1):c.9733G>T (p.Ala3245Ser) rs753548717
NM_182961.4(SYNE1):c.9788C>T (p.Ala3263Val) rs780460827
NM_182961.4(SYNE1):c.9807+6G>A rs376694958
NM_182961.4(SYNE1):c.9934G>A (p.Asp3312Asn) rs147281213
NM_182961.4(SYNE1):c.9953G>A (p.Ser3318Asn) rs746689638

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.