ClinVar Miner

List of variants in gene SYNE2 reported as likely benign for autosomal dominant Emery-Dreifuss muscular dystrophy

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 196
Download table as spreadsheet
HGVS dbSNP
NM_015180.5(SYNE2):c.8403_8404inv (p.Ser2802Gly)
NM_182914.2(SYNE2):c.10095A>G (p.Arg3365=)
NM_182914.2(SYNE2):c.10306G>A (p.Gly3436Ser) rs768614412
NM_182914.2(SYNE2):c.10313G>A (p.Cys3438Tyr)
NM_182914.2(SYNE2):c.10392C>T (p.Cys3464=) rs373646325
NM_182914.2(SYNE2):c.10494A>G (p.Thr3498=) rs201000414
NM_182914.2(SYNE2):c.10495A>C (p.Lys3499Gln) rs752900825
NM_182914.2(SYNE2):c.10947G>A (p.Met3649Ile) rs772140514
NM_182914.2(SYNE2):c.11061A>G (p.Ala3687=) rs769752720
NM_182914.2(SYNE2):c.11164-4C>T rs370961691
NM_182914.2(SYNE2):c.11313G>C (p.Gln3771His) rs144596211
NM_182914.2(SYNE2):c.11479G>C (p.Val3827Leu) rs138514054
NM_182914.2(SYNE2):c.11530A>G (p.Ile3844Val) rs140243093
NM_182914.2(SYNE2):c.11549A>G (p.Asp3850Gly) rs527339341
NM_182914.2(SYNE2):c.1154A>G (p.Asn385Ser) rs201176149
NM_182914.2(SYNE2):c.11550C>A (p.Asp3850Glu) rs146261323
NM_182914.2(SYNE2):c.11937A>G (p.Leu3979=) rs147744381
NM_182914.2(SYNE2):c.11944A>G (p.Asn3982Asp) rs10137972
NM_182914.2(SYNE2):c.12056T>G (p.Phe4019Cys)
NM_182914.2(SYNE2):c.12121C>T (p.Arg4041Cys) rs146197259
NM_182914.2(SYNE2):c.12122G>A (p.Arg4041His) rs17101661
NM_182914.2(SYNE2):c.12192A>G (p.Val4064=)
NM_182914.2(SYNE2):c.12352G>A (p.Glu4118Lys) rs763188798
NM_182914.2(SYNE2):c.12381+6G>A rs781486571
NM_182914.2(SYNE2):c.12560A>T (p.Asn4187Ile) rs34480732
NM_182914.2(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848
NM_182914.2(SYNE2):c.12636C>G (p.Asp4212Glu)
NM_182914.2(SYNE2):c.12655G>A (p.Ala4219Thr) rs138644399
NM_182914.2(SYNE2):c.12660A>G (p.Gln4220=)
NM_182914.2(SYNE2):c.12673C>T (p.Pro4225Ser) rs149296737
NM_182914.2(SYNE2):c.12903C>T (p.Gly4301=) rs148708516
NM_182914.2(SYNE2):c.13256A>G (p.Asp4419Gly)
NM_182914.2(SYNE2):c.13281-6C>T rs376973894
NM_182914.2(SYNE2):c.13377C>G (p.Leu4459=) rs141379692
NM_182914.2(SYNE2):c.13424T>C (p.Val4475Ala)
NM_182914.2(SYNE2):c.13457C>G (p.Thr4486Ser)
NM_182914.2(SYNE2):c.13510C>G (p.Gln4504Glu)
NM_182914.2(SYNE2):c.1356A>C (p.Glu452Asp)
NM_182914.2(SYNE2):c.13850C>T (p.Thr4617Ile) rs148582250
NM_182914.2(SYNE2):c.13983T>C (p.Asn4661=)
NM_182914.2(SYNE2):c.14071A>G (p.Lys4691Glu) rs143798878
NM_182914.2(SYNE2):c.14088G>A (p.Gly4696=) rs200893674
NM_182914.2(SYNE2):c.14184A>G (p.Thr4728=) rs753123786
NM_182914.2(SYNE2):c.14313G>A (p.Ala4771=)
NM_182914.2(SYNE2):c.144C>T (p.His48=) rs751515594
NM_182914.2(SYNE2):c.14544A>G (p.Ala4848=)
NM_182914.2(SYNE2):c.14792A>G (p.Lys4931Arg) rs147640636
NM_182914.2(SYNE2):c.14920T>G (p.Ser4974Ala)
NM_182914.2(SYNE2):c.14976+10A>G rs367888426
NM_182914.2(SYNE2):c.14980T>C (p.Phe4994Leu) rs747348017
NM_182914.2(SYNE2):c.15132T>A (p.Leu5044=) rs201429908
NM_182914.2(SYNE2):c.15219C>T (p.Asn5073=)
NM_182914.2(SYNE2):c.15234A>G (p.Gln5078=) rs139340468
NM_182914.2(SYNE2):c.15248A>G (p.Asp5083Gly) rs149617373
NM_182914.2(SYNE2):c.15351C>T (p.Phe5117=)
NM_182914.2(SYNE2):c.15483+13G>A rs369303929
NM_182914.2(SYNE2):c.15495A>G (p.Leu5165=) rs1555509783
NM_182914.2(SYNE2):c.15552C>T (p.Asn5184=) rs201334658
NM_182914.2(SYNE2):c.15689A>G (p.Lys5230Arg) rs146573874
NM_182914.2(SYNE2):c.15774A>G (p.Arg5258=)
NM_182914.2(SYNE2):c.15781G>A (p.Val5261Ile) rs144605670
NM_182914.2(SYNE2):c.15848A>G (p.Asp5283Gly) rs138797058
NM_182914.2(SYNE2):c.15865G>A (p.Val5289Met) rs181059522
NM_182914.2(SYNE2):c.15928T>C (p.Leu5310=) rs74975380
NM_182914.2(SYNE2):c.16088A>G (p.His5363Arg) rs150677837
NM_182914.2(SYNE2):c.16127A>G (p.Gln5376Arg) rs753646712
NM_182914.2(SYNE2):c.16156C>T (p.Leu5386Phe) rs184745422
NM_182914.2(SYNE2):c.16178C>T (p.Ala5393Val) rs147173048
NM_182914.2(SYNE2):c.16195G>A (p.Ala5399Thr) rs140265039
NM_182914.2(SYNE2):c.16312G>A (p.Asp5438Asn) rs201134182
NM_182914.2(SYNE2):c.16374A>T (p.Gln5458His) rs191057574
NM_182914.2(SYNE2):c.16378G>A (p.Ala5460Thr) rs775169295
NM_182914.2(SYNE2):c.16410C>G (p.Gly5470=) rs200393620
NM_182914.2(SYNE2):c.16480-9T>G rs776380039
NM_182914.2(SYNE2):c.16701G>T (p.Thr5567=) rs200950664
NM_182914.2(SYNE2):c.16754G>A (p.Arg5585His) rs141144237
NM_182914.2(SYNE2):c.16782G>A (p.Leu5594=)
NM_182914.2(SYNE2):c.16856A>G (p.Asp5619Gly) rs139187222
NM_182914.2(SYNE2):c.16863T>C (p.Ala5621=) rs200618488
NM_182914.2(SYNE2):c.1689G>A (p.Val563=) rs756480117
NM_182914.2(SYNE2):c.16912G>A (p.Glu5638Lys)
NM_182914.2(SYNE2):c.17033C>T (p.Thr5678Met) rs147365925
NM_182914.2(SYNE2):c.17352C>A (p.Ile5784=)
NM_182914.2(SYNE2):c.17685C>T (p.His5895=)
NM_182914.2(SYNE2):c.18037A>C (p.Arg6013=) rs375971416
NM_182914.2(SYNE2):c.18232G>A (p.Ala6078Thr) rs149128439
NM_182914.2(SYNE2):c.18315G>A (p.Ser6105=) rs202084149
NM_182914.2(SYNE2):c.18389+7A>T rs372337180
NM_182914.2(SYNE2):c.18429C>T (p.Asp6143=) rs559412468
NM_182914.2(SYNE2):c.1842C>T (p.Pro614=)
NM_182914.2(SYNE2):c.1852C>G (p.Leu618Val) rs199697908
NM_182914.2(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895
NM_182914.2(SYNE2):c.1873C>T (p.His625Tyr) rs192061494
NM_182914.2(SYNE2):c.18835G>A (p.Ala6279Thr)
NM_182914.2(SYNE2):c.18963G>T (p.Leu6321=) rs757232346
NM_182914.2(SYNE2):c.19056+10C>T
NM_182914.2(SYNE2):c.19135C>T (p.Arg6379Cys) rs141741640
NM_182914.2(SYNE2):c.19136G>A (p.Arg6379His) rs150629598
NM_182914.2(SYNE2):c.1914C>T (p.Val638=)
NM_182914.2(SYNE2):c.19204G>A (p.Glu6402Lys) rs200971467
NM_182914.2(SYNE2):c.19248C>G (p.Pro6416=) rs150363140
NM_182914.2(SYNE2):c.19323C>T (p.Ser6441=) rs186839881
NM_182914.2(SYNE2):c.19415C>T (p.Ser6472Leu) rs150955173
NM_182914.2(SYNE2):c.19417G>C (p.Asp6473His) rs140940287
NM_182914.2(SYNE2):c.19441G>C (p.Asp6481His) rs202052357
NM_182914.2(SYNE2):c.19501C>T (p.Pro6501Ser) rs200937358
NM_182914.2(SYNE2):c.19623C>T (p.Asp6541=)
NM_182914.2(SYNE2):c.19938C>T (p.Thr6646=) rs765762035
NM_182914.2(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500
NM_182914.2(SYNE2):c.2001+8C>A
NM_182914.2(SYNE2):c.20011G>A (p.Ala6671Thr) rs34820571
NM_182914.2(SYNE2):c.20028A>G (p.Arg6676=) rs759606978
NM_182914.2(SYNE2):c.20061+4C>T rs373128678
NM_182914.2(SYNE2):c.20158C>T (p.Arg6720Trp) rs35700578
NM_182914.2(SYNE2):c.20161G>A (p.Ala6721Thr) rs140897155
NM_182914.2(SYNE2):c.20191-8G>C
NM_182914.2(SYNE2):c.20240A>C (p.Gln6747Pro) rs147470935
NM_182914.2(SYNE2):c.20383-9G>A rs373857906
NM_182914.2(SYNE2):c.20409C>T (p.Phe6803=) rs1233622581
NM_182914.2(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129
NM_182914.2(SYNE2):c.20448C>T (p.Ser6816=) rs546213944
NM_182914.2(SYNE2):c.20523C>T (p.Pro6841=)
NM_182914.2(SYNE2):c.20536C>T (p.Pro6846Ser) rs147848144
NM_182914.2(SYNE2):c.20542C>T (p.Arg6848Cys) rs201472187
NM_182914.2(SYNE2):c.20547C>T (p.Ser6849=)
NM_182914.2(SYNE2):c.20702C>A (p.Thr6901Asn) rs760936547
NM_182914.2(SYNE2):c.2190A>G (p.Thr730=) rs374751877
NM_182914.2(SYNE2):c.22C>T (p.Pro8Ser) rs2275017
NM_182914.2(SYNE2):c.2560C>G (p.Gln854Glu) rs34449017
NM_182914.2(SYNE2):c.2665A>G (p.Asn889Asp) rs370800852
NM_182914.2(SYNE2):c.280A>G (p.Ile94Val) rs146748294
NM_182914.2(SYNE2):c.2903G>A (p.Arg968His) rs200356303
NM_182914.2(SYNE2):c.3141G>A (p.Thr1047=) rs372376442
NM_182914.2(SYNE2):c.3235A>G (p.Thr1079Ala) rs192128801
NM_182914.2(SYNE2):c.3639-12C>T rs750618626
NM_182914.2(SYNE2):c.3639-6A>G
NM_182914.2(SYNE2):c.3773A>G (p.Tyr1258Cys) rs370541277
NM_182914.2(SYNE2):c.3885C>T (p.His1295=) rs570341792
NM_182914.2(SYNE2):c.4071G>A (p.Thr1357=) rs371506443
NM_182914.2(SYNE2):c.4285C>T (p.Leu1429=)
NM_182914.2(SYNE2):c.4846T>C (p.Phe1616Leu) rs764521226
NM_182914.2(SYNE2):c.4910A>G (p.Tyr1637Cys) rs143578863
NM_182914.2(SYNE2):c.5020T>C (p.Leu1674=) rs201666704
NM_182914.2(SYNE2):c.5100G>A (p.Val1700=)
NM_182914.2(SYNE2):c.5253G>A (p.Arg1751=) rs375022006
NM_182914.2(SYNE2):c.5893A>G (p.Lys1965Glu) rs80046702
NM_182914.2(SYNE2):c.6096C>T (p.Ile2032=)
NM_182914.2(SYNE2):c.6330G>A (p.Pro2110=) rs779101206
NM_182914.2(SYNE2):c.6588A>G (p.Thr2196=) rs367788980
NM_182914.2(SYNE2):c.6599A>G (p.Lys2200Arg) rs551801857
NM_182914.2(SYNE2):c.6685C>G (p.Leu2229Val) rs375543783
NM_182914.2(SYNE2):c.6772G>A (p.Val2258Ile)
NM_182914.2(SYNE2):c.6793T>C (p.Leu2265=) rs746513307
NM_182914.2(SYNE2):c.6945C>T (p.Ser2315=)
NM_182914.2(SYNE2):c.7163A>G (p.Glu2388Gly) rs45590135
NM_182914.2(SYNE2):c.7222-9G>A
NM_182914.2(SYNE2):c.7310A>G (p.Asn2437Ser) rs373880647
NM_182914.2(SYNE2):c.7483G>A (p.Gly2495Arg) rs201036334
NM_182914.2(SYNE2):c.7617G>A (p.Leu2539=) rs200359168
NM_182914.2(SYNE2):c.7643+6T>C rs144143344
NM_182914.2(SYNE2):c.7872A>C (p.Glu2624Asp) rs140325055
NM_182914.2(SYNE2):c.8005A>G (p.Thr2669Ala) rs374946613
NM_182914.2(SYNE2):c.844C>T (p.Leu282=)
NM_182914.2(SYNE2):c.8691G>C (p.Glu2897Asp) rs758754933
NM_182914.2(SYNE2):c.8761A>C (p.Lys2921Gln) rs182683822
NM_182914.2(SYNE2):c.8862G>A (p.Ala2954=) rs373930498
NM_182914.2(SYNE2):c.8862G>T (p.Ala2954=) rs373930498
NM_182914.2(SYNE2):c.8931T>C (p.Val2977=) rs1555453730
NM_182914.2(SYNE2):c.8964C>T (p.Leu2988=)
NM_182914.2(SYNE2):c.907A>G (p.Met303Val) rs377535370
NM_182914.2(SYNE2):c.9140A>G (p.Lys3047Arg) rs201471505
NM_182914.2(SYNE2):c.9230C>T (p.Pro3077Leu) rs200742016
NM_182914.2(SYNE2):c.9231G>A (p.Pro3077=) rs199659722
NM_182914.2(SYNE2):c.9252C>T (p.Ala3084=) rs200061977
NM_182914.2(SYNE2):c.9315A>C (p.Leu3105Phe) rs201466326
NM_182914.2(SYNE2):c.9404A>G (p.Lys3135Arg) rs376121197
NM_182914.2(SYNE2):c.9519G>A (p.Gln3173=) rs779254549
NM_182914.2(SYNE2):c.9633T>C (p.Ala3211=) rs1335670113
NM_182914.2(SYNE2):c.9691C>T (p.Arg3231Cys) rs546650178
NM_182914.2(SYNE2):c.9745-9A>G rs778028287
NM_182914.2(SYNE2):c.9813C>T (p.Ser3271=)
NM_182914.3(SYNE2):c.*59G>A
NM_182914.3(SYNE2):c.10776A>G (p.Ile3592Met)
NM_182914.3(SYNE2):c.12109-10_12109-7del rs755277543
NM_182914.3(SYNE2):c.13918-13A>G
NM_182914.3(SYNE2):c.14252T>C (p.Val4751Ala)
NM_182914.3(SYNE2):c.14298C>G (p.Thr4766=)
NM_182914.3(SYNE2):c.14574A>G (p.Ile4858Met)
NM_182914.3(SYNE2):c.14791A>G (p.Lys4931Glu)
NM_182914.3(SYNE2):c.15413C>T (p.Thr5138Met)
NM_182914.3(SYNE2):c.16760+6A>G
NM_182914.3(SYNE2):c.19142G>A (p.Arg6381Gln)
NM_182914.3(SYNE2):c.19807G>A (p.Ala6603Thr)
NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp)
NM_182914.3(SYNE2):c.8386C>T (p.Leu2796Phe)
NM_182914.3(SYNE2):c.888+11A>G

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.