ClinVar Miner

Variants with conflicting interpretations studied for Emery-Dreifuss muscular dystrophy

Coded as:
Minimum review status of the submission for Emery-Dreifuss muscular dystrophy: Y axis collection method of the submission for Emery-Dreifuss muscular dystrophy:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
243 233 0 281 169 0 5 415

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Emery-Dreifuss muscular dystrophy pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 1 1 0 27 5
likely benign 2 1 139 0 222
benign 0 0 0 59 0

Condition to condition summary #

Total conditions: 14
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not provided 0 134 0 189 135 0 0 294
not specified 0 145 0 174 38 0 0 207
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 36 0 15 22 0 1 37
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 20 0 16 20 0 0 36
Cardiomyopathy 0 8 0 6 0 0 0 6
Spinocerebellar ataxia, autosomal recessive 8 0 3 0 0 3 0 0 3
Cardiovascular phenotype 0 7 0 2 0 0 0 2
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 2 0 0 0 0 2 2
Abnormality of brain morphology 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type 2 0 30 0 0 1 0 0 1
Dilated cardiomyopathy 1A 0 1 0 1 0 0 0 1
Familial dilated cardiomyopathy 0 0 0 0 0 0 1 1
Intellectual functioning disability 0 0 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 415
Download table as spreadsheet
HGVS dbSNP
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_015180.5(SYNE2):c.15290_15292TTC[1] (p.Leu5098del) rs368230785
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.4(LMNA):c.514-11C>T rs886045365
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_170707.4(LMNA):c.811-13T>A rs80356809
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089
NM_170707.4(LMNA):c.936+12C>T rs199881992
NM_182914.2(SYNE2):c.10196G>A (p.Arg3399His) rs36039501
NM_182914.2(SYNE2):c.10269C>G (p.Ile3423Met) rs35920722
NM_182914.2(SYNE2):c.10494A>G (p.Thr3498=) rs201000414
NM_182914.2(SYNE2):c.10567A>C (p.Lys3523Gln) rs35203186
NM_182914.2(SYNE2):c.10582C>G (p.Leu3528Val) rs374649578
NM_182914.2(SYNE2):c.10835A>G (p.Gln3612Arg) rs78110192
NM_182914.2(SYNE2):c.11061A>G (p.Ala3687=) rs769752720
NM_182914.2(SYNE2):c.11313G>C (p.Gln3771His) rs144596211
NM_182914.2(SYNE2):c.11379T>C (p.Leu3793=) rs149391344
NM_182914.2(SYNE2):c.11385G>A (p.Lys3795=) rs34954189
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.1154A>G (p.Asn385Ser) rs201176149
NM_182914.2(SYNE2):c.11671-4C>A rs193068394
NM_182914.2(SYNE2):c.11935C>G (p.Leu3979Val) rs76576553
NM_182914.2(SYNE2):c.11944A>G (p.Asn3982Asp) rs10137972
NM_182914.2(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205
NM_182914.2(SYNE2):c.12001_12002inv (p.Trp4001Gln)
NM_182914.2(SYNE2):c.12002G>A (p.Trp4001Ter) rs2781377
NM_182914.2(SYNE2):c.12043T>C (p.Tyr4015His) rs75665958
NM_182914.2(SYNE2):c.12122G>A (p.Arg4041His) rs17101661
NM_182914.2(SYNE2):c.12190G>A (p.Val4064Ile) rs144164967
NM_182914.2(SYNE2):c.12370G>T (p.Val4124Leu) rs370255444
NM_182914.2(SYNE2):c.12378C>T (p.Ser4126=) rs36007735
NM_182914.2(SYNE2):c.12596A>G (p.Asn4199Ser) rs35223918
NM_182914.2(SYNE2):c.12614C>T (p.Thr4205Ile) rs376207235
NM_182914.2(SYNE2):c.12626T>C (p.Ile4209Thr) rs61747118
NM_182914.2(SYNE2):c.12673C>T (p.Pro4225Ser) rs149296737
NM_182914.2(SYNE2):c.13254C>A (p.Asn4418Lys) rs36021513
NM_182914.2(SYNE2):c.13266G>A (p.Gln4422=) rs34944385
NM_182914.2(SYNE2):c.13280+3A>G rs113145581
NM_182914.2(SYNE2):c.13526G>A (p.Arg4509His) rs200946949
NM_182914.2(SYNE2):c.13689C>T (p.Gly4563=) rs186567969
NM_182914.2(SYNE2):c.13707+10T>C rs61987277
NM_182914.2(SYNE2):c.13918-6T>C rs187859624
NM_182914.2(SYNE2):c.14057A>G (p.Glu4686Gly) rs10133691
NM_182914.2(SYNE2):c.14197C>A (p.Pro4733Thr) rs75568433
NM_182914.2(SYNE2):c.14225C>T (p.Ala4742Val) rs373034895
NM_182914.2(SYNE2):c.14430A>G (p.Thr4810=) rs34248042
NM_182914.2(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398
NM_182914.2(SYNE2):c.14734C>G (p.Pro4912Ala) rs17766354
NM_182914.2(SYNE2):c.14737G>A (p.Glu4913Lys) rs12881815
NM_182914.2(SYNE2):c.14776T>C (p.Leu4926=) rs8007874
NM_182914.2(SYNE2):c.1482G>A (p.Leu494=) rs117567094
NM_182914.2(SYNE2):c.15256C>T (p.His5086Tyr) rs2039475
NM_182914.2(SYNE2):c.15689A>G (p.Lys5230Arg) rs146573874
NM_182914.2(SYNE2):c.15720A>C (p.Ala5240=) rs370147066
NM_182914.2(SYNE2):c.15794T>C (p.Val5265Ala) rs142660236
NM_182914.2(SYNE2):c.15822A>T (p.Ser5274=) rs184241655
NM_182914.2(SYNE2):c.15857A>G (p.Tyr5286Cys) rs149354607
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.16095-10G>A rs139126909
NM_182914.2(SYNE2):c.16178C>T (p.Ala5393Val) rs147173048
NM_182914.2(SYNE2):c.16305G>A (p.Leu5435=) rs116758464
NM_182914.2(SYNE2):c.16405C>A (p.Pro5469Thr) rs148492034
NM_182914.2(SYNE2):c.16419C>T (p.His5473=) rs138209076
NM_182914.2(SYNE2):c.16522T>A (p.Ser5508Thr) rs35190322
NM_182914.2(SYNE2):c.16591C>A (p.Pro5531Thr) rs145036293
NM_182914.2(SYNE2):c.16605+10A>G rs761193543
NM_182914.2(SYNE2):c.16639G>A (p.Asp5547Asn) rs17179194
NM_182914.2(SYNE2):c.16718G>A (p.Arg5573Gln) rs149227847
NM_182914.2(SYNE2):c.16722A>G (p.Gln5574=) rs17101704
NM_182914.2(SYNE2):c.16743G>A (p.Thr5581=) rs138769395
NM_182914.2(SYNE2):c.1721T>C (p.Ile574Thr) rs9944035
NM_182914.2(SYNE2):c.17539G>A (p.Glu5847Lys) rs201427580
NM_182914.2(SYNE2):c.17556+4T>C rs2297301
NM_182914.2(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973
NM_182914.2(SYNE2):c.18039-5T>A rs189611387
NM_182914.2(SYNE2):c.18190G>A (p.Ala6064Thr) rs182079744
NM_182914.2(SYNE2):c.18232G>A (p.Ala6078Thr) rs149128439
NM_182914.2(SYNE2):c.18429C>T (p.Asp6143=) rs559412468
NM_182914.2(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895
NM_182914.2(SYNE2):c.18723+8C>T rs200853043
NM_182914.2(SYNE2):c.18963G>T (p.Leu6321=) rs757232346
NM_182914.2(SYNE2):c.19185T>C (p.His6395=) rs146775592
NM_182914.2(SYNE2):c.19194C>T (p.Ala6398=) rs144599409
NM_182914.2(SYNE2):c.19415C>T (p.Ser6472Leu) rs150955173
NM_182914.2(SYNE2):c.19441G>C (p.Asp6481His) rs202052357
NM_182914.2(SYNE2):c.19458C>T (p.Pro6486=) rs144593270
NM_182914.2(SYNE2):c.19501C>T (p.Pro6501Ser) rs200937358
NM_182914.2(SYNE2):c.19636G>A (p.Gly6546Ser) rs199577239
NM_182914.2(SYNE2):c.19639A>G (p.Ile6547Val) rs45453691
NM_182914.2(SYNE2):c.19867C>T (p.Leu6623=) rs139826953
NM_182914.2(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500
NM_182914.2(SYNE2):c.20011G>A (p.Ala6671Thr) rs34820571
NM_182914.2(SYNE2):c.2013G>A (p.Leu671=) rs371320284
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.20197G>A (p.Glu6733Lys) rs150172232
NM_182914.2(SYNE2):c.20203G>A (p.Glu6735Lys) rs138789938
NM_182914.2(SYNE2):c.2026A>G (p.Lys676Glu) rs78191145
NM_182914.2(SYNE2):c.20286T>C (p.Cys6762=) rs77065534
NM_182914.2(SYNE2):c.20339G>A (p.Arg6780Gln) rs202240664
NM_182914.2(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129
NM_182914.2(SYNE2):c.20424G>A (p.Ser6808=) rs187841473
NM_182914.2(SYNE2):c.20497G>A (p.Glu6833Lys) rs58154675
NM_182914.2(SYNE2):c.2070A>G (p.Leu690=) rs79037871
NM_182914.2(SYNE2):c.2190A>G (p.Thr730=) rs374751877
NM_182914.2(SYNE2):c.2270T>C (p.Leu757Ser) rs200319405
NM_182914.2(SYNE2):c.2409C>A (p.Ser803=) rs17101525
NM_182914.2(SYNE2):c.2477A>G (p.Asn826Ser) rs372150492
NM_182914.2(SYNE2):c.2803T>C (p.Leu935=) rs114718315
NM_182914.2(SYNE2):c.2934A>G (p.Glu978=) rs34001379
NM_182914.2(SYNE2):c.3054A>C (p.Leu1018=) rs751740731
NM_182914.2(SYNE2):c.3235A>G (p.Thr1079Ala) rs192128801
NM_182914.2(SYNE2):c.3326G>A (p.Ser1109Asn) rs150464227
NM_182914.2(SYNE2):c.3559A>C (p.Ile1187Leu) rs57259697
NM_182914.2(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282
NM_182914.2(SYNE2):c.4286T>C (p.Leu1429Pro) rs150573158
NM_182914.2(SYNE2):c.430C>G (p.Leu144Val) rs142000273
NM_182914.2(SYNE2):c.4536A>G (p.Thr1512=) rs11158524
NM_182914.2(SYNE2):c.4614A>G (p.Lys1538=) rs572672283
NM_182914.2(SYNE2):c.4785C>A (p.Asn1595Lys) rs199704293
NM_182914.2(SYNE2):c.4912T>C (p.Tyr1638His) rs146801942
NM_182914.2(SYNE2):c.5156T>C (p.Met1719Thr) rs73277546
NM_182914.2(SYNE2):c.5187T>A (p.His1729Gln) rs116597541
NM_182914.2(SYNE2):c.5517A>T (p.Leu1839Phe) rs35883188
NM_182914.2(SYNE2):c.5534A>G (p.Lys1845Arg) rs76634907
NM_182914.2(SYNE2):c.5608A>C (p.Ser1870Arg) rs368227332
NM_182914.2(SYNE2):c.6321C>T (p.Ser2107=) rs143410137
NM_182914.2(SYNE2):c.6330G>A (p.Pro2110=) rs779101206
NM_182914.2(SYNE2):c.6511C>G (p.Leu2171Val) rs199743242
NM_182914.2(SYNE2):c.6599A>G (p.Lys2200Arg) rs551801857
NM_182914.2(SYNE2):c.6690C>T (p.His2230=) rs138272705
NM_182914.2(SYNE2):c.6714+3G>A rs142902034
NM_182914.2(SYNE2):c.6714+6G>T rs191541575
NM_182914.2(SYNE2):c.6880-5C>T rs187173455
NM_182914.2(SYNE2):c.7040C>A (p.Ala2347Glu) rs34625768
NM_182914.2(SYNE2):c.7075A>G (p.Ser2359Gly) rs7157465
NM_182914.2(SYNE2):c.7124T>C (p.Leu2375Pro) rs111902869
NM_182914.2(SYNE2):c.7128A>G (p.Pro2376=) rs117423703
NM_182914.2(SYNE2):c.7162G>A (p.Glu2388Lys) rs200842904
NM_182914.2(SYNE2):c.7163A>G (p.Glu2388Gly) rs45590135
NM_182914.2(SYNE2):c.7467G>C (p.Leu2489Phe) rs143031135
NM_182914.2(SYNE2):c.7469T>G (p.Val2490Gly) rs34393543
NM_182914.2(SYNE2):c.7643+9A>G rs115809466
NM_182914.2(SYNE2):c.7872A>C (p.Glu2624Asp) rs140325055
NM_182914.2(SYNE2):c.7898A>G (p.Asn2633Ser) rs190582637
NM_182914.2(SYNE2):c.7976G>A (p.Arg2659Gln) rs199561218
NM_182914.2(SYNE2):c.8003T>G (p.Leu2668Trp) rs143558316
NM_182914.2(SYNE2):c.8041G>A (p.Val2681Ile) rs150946074
NM_182914.2(SYNE2):c.8422C>T (p.Leu2808=) rs35960129
NM_182914.2(SYNE2):c.8597C>T (p.Thr2866Met) rs114508894
NM_182914.2(SYNE2):c.9023T>C (p.Ile3008Thr) rs115969845
NM_182914.2(SYNE2):c.9230C>T (p.Pro3077Leu) rs200742016
NM_182914.2(SYNE2):c.9347A>G (p.Lys3116Arg) rs138689053
NM_182914.2(SYNE2):c.9396G>C (p.Lys3132Asn) rs566182360
NM_182914.2(SYNE2):c.9502A>G (p.Ile3168Val) rs193035848
NM_182914.2(SYNE2):c.9700G>C (p.Glu3234Gln) rs372597797
NM_182914.2(SYNE2):c.990+10A>G rs145924910
NM_182914.2(SYNE2):c.9974C>T (p.Ala3325Val) rs377173620
NM_182961.4(SYNE1):c.-49C>T rs373654060
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala) rs138693624
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713
NM_182961.4(SYNE1):c.10145+12T>C rs112401775
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=) rs369227827
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271
NM_182961.4(SYNE1):c.10260G>A (p.Ala3420=) rs145287138
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=) rs147402839
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) rs144105769
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val) rs150637898
NM_182961.4(SYNE1):c.1047+4T>A rs9397106
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=) rs62426382
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=) rs9397102
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051
NM_182961.4(SYNE1):c.1113A>G (p.Pro371=) rs374376301
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183
NM_182961.4(SYNE1):c.11196T>C (p.Ala3732=) rs138528119
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744
NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=) rs149393972
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=) rs151081036
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524
NM_182961.4(SYNE1):c.11621A>C (p.Lys3874Thr) rs13210127
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser) rs180727534
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=) rs144596829
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) rs111449472
NM_182961.4(SYNE1):c.12079-12G>T rs73783853
NM_182961.4(SYNE1):c.12099C>T (p.His4033=) rs375862387
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=) rs60344647
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434
NM_182961.4(SYNE1):c.12225+4G>A rs770448083
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=) rs71575926
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn) rs28385621
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His) rs117501809
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=) rs141202420
NM_182961.4(SYNE1):c.12565G>A (p.Val4189Met) rs148204741
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys) rs2130262
NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=) rs138650597
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) rs140136749
NM_182961.4(SYNE1):c.13221C>T (p.Asp4407=) rs10499268
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln) rs771898973
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=) rs115535983
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) rs111511993
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093
NM_182961.4(SYNE1):c.13724G>T (p.Cys4575Phe) rs199701902
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096
NM_182961.4(SYNE1):c.13852C>A (p.Leu4618Ile) rs147125369
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=) rs112266645
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn) rs142388112
NM_182961.4(SYNE1):c.13986G>A (p.Lys4662=) rs17082484
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln) rs144963785
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=) rs3734365
NM_182961.4(SYNE1):c.14107G>A (p.Asp4703Asn) rs116000545
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=) rs3734366
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343
NM_182961.4(SYNE1):c.14380C>T (p.Leu4794=) rs138307449
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=) rs141057568
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala) rs200954103
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=) rs35085679
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=) rs763930147
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018
NM_182961.4(SYNE1):c.15377A>C (p.Glu5126Ala) rs773536890
NM_182961.4(SYNE1):c.15597C>G (p.Ala5199=) rs9383987
NM_182961.4(SYNE1):c.15657+5T>A rs199779021
NM_182961.4(SYNE1):c.156T>C (p.Asp52=) rs139156106
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln) rs138277154
NM_182961.4(SYNE1):c.16129A>C (p.Met5377Leu) rs35987150
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=) rs146705789
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met) rs2306914
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=) rs144376043
NM_182961.4(SYNE1):c.16476A>G (p.Gln5492=) rs141380170
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_182961.4(SYNE1):c.17140C>T (p.Arg5714Trp) rs202171698
NM_182961.4(SYNE1):c.17203-7_17203-6del rs55633181
NM_182961.4(SYNE1):c.17339G>A (p.Arg5780Gln) rs76160752
NM_182961.4(SYNE1):c.17346+7G>A rs9383985
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422
NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=) rs148731167
NM_182961.4(SYNE1):c.17542-7G>A rs199762799
NM_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) rs113962905
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933
NM_182961.4(SYNE1):c.17867G>A (p.Arg5956His) rs80265744
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=) rs141424852
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=) rs146238726
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu) rs139790539
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe) rs140135976
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038
NM_182961.4(SYNE1):c.18801C>T (p.Thr6267=) rs116007471
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu) rs140090745
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe) rs141934037
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser) rs149272010
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509
NM_182961.4(SYNE1):c.19692+3G>A rs150304757
NM_182961.4(SYNE1):c.19698G>T (p.Met6566Ile) rs35654757
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=) rs149670417
NM_182961.4(SYNE1):c.19989T>C (p.His6663=) rs61746395
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=) rs142327194
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) rs34905593
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=) rs139480065
NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=) rs367864272
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln) rs143639400
NM_182961.4(SYNE1):c.21440T>C (p.Met7147Thr) rs140962690
NM_182961.4(SYNE1):c.21523-8T>G rs187773880
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=) rs141170182
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=) rs371017408
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr) rs145494541
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=) rs148556501
NM_182961.4(SYNE1):c.2220G>A (p.Met740Ile) rs146001055
NM_182961.4(SYNE1):c.22281C>A (p.Ile7427=) rs139362680
NM_182961.4(SYNE1):c.22303C>T (p.Arg7435Cys) rs371642308
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=) rs36044575
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=) rs34891041
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly) rs35763277
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756
NM_182961.4(SYNE1):c.22809C>T (p.Leu7603=) rs34630198
NM_182961.4(SYNE1):c.22910G>C (p.Ser7637Thr) rs201497427
NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp) rs142117628
NM_182961.4(SYNE1):c.23002C>G (p.Leu7668Val) rs150589796
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=) rs139590550
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771
NM_182961.4(SYNE1):c.23461-6A>C rs145098375
NM_182961.4(SYNE1):c.23743G>A (p.Asp7915Asn) rs76699382
NM_182961.4(SYNE1):c.23791-13C>T rs371245873
NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile) rs199670962
NM_182961.4(SYNE1):c.24225A>G (p.Ala8075=) rs910415
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) rs144056525
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser) rs17082236
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=) rs201799566
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu) rs143900928
NM_182961.4(SYNE1):c.24660C>T (p.His8220=) rs150811468
NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln) rs201548223
NM_182961.4(SYNE1):c.24815G>A (p.Arg8272Gln) rs201029723
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln) rs148008634
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885
NM_182961.4(SYNE1):c.25120-6A>G rs201898019
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=) rs151034170
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys) rs34610829
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) rs118187988
NM_182961.4(SYNE1):c.2569-8C>T rs376033376
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542
NM_182961.4(SYNE1):c.26002-4A>G rs77220999
NM_182961.4(SYNE1):c.26060C>T (p.Thr8687Ile) rs35591210
NM_182961.4(SYNE1):c.26204G>A (p.Arg8735Gln) rs2295192
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser) rs2295191
NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys) rs144206837
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met) rs2295190
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=) rs200880341
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val) rs17082709
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=) rs75817012
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys) rs757479164
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys) rs148346599
NM_182961.4(SYNE1):c.310-468G>A rs143635963
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488
NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp) rs147841761
NM_182961.4(SYNE1):c.3306C>T (p.His1102=) rs17082701
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=) rs754584363
NM_182961.4(SYNE1):c.3890C>T (p.Ala1297Val) rs35378260
NM_182961.4(SYNE1):c.3952G>C (p.Glu1318Gln) rs201144728
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=) rs138705766
NM_182961.4(SYNE1):c.4008+15T>C rs368542446
NM_182961.4(SYNE1):c.402+11A>G rs80276170
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln) rs144566713
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp) rs34028822
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile) rs376463379
NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=) rs138264334
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln) rs369775705
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624
NM_182961.4(SYNE1):c.4789-13G>A rs142900784
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val) rs566004273
NM_182961.4(SYNE1):c.4908C>T (p.Tyr1636=) rs771955377
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=) rs187410988
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808
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.5190T>A (p.Asp1730Glu) rs111250109
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=) rs147508177
NM_182961.4(SYNE1):c.5421+9G>T rs376218204
NM_182961.4(SYNE1):c.5429C>T (p.Ala1810Val) rs76393834
NM_182961.4(SYNE1):c.582-9A>G rs200412221
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met) rs116600265
NM_182961.4(SYNE1):c.6254T>C (p.Ile2085Thr) rs577979265
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg) rs75989452
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile) rs141858284
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=) rs185829704
NM_182961.4(SYNE1):c.6826-6A>G rs183683592
NM_182961.4(SYNE1):c.6889G>A (p.Gly2297Arg) rs117184249
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met) rs190867604
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) rs138004884
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=) rs140986546
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val) rs147947903
NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala) rs199558070
NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=) rs144910464
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=) rs139070088
NM_182961.4(SYNE1):c.7556+14A>G rs78034368
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser) rs568309673
NM_182961.4(SYNE1):c.7713-4T>C rs571742202
NM_182961.4(SYNE1):c.7854C>T (p.Ser2618=) rs79449810
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) rs117480635
NM_182961.4(SYNE1):c.8005-3C>T rs117084693
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=) rs58905396
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241
NM_182961.4(SYNE1):c.8177+9C>T rs56877632
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys) rs145195048
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val) rs214950
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala) rs77853132
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=) rs117020413
NM_182961.4(SYNE1):c.9261C>T (p.Thr3087=) rs199554198
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=) rs35379711
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=) rs6913579
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_182961.4(SYNE1):c.9764C>T (p.Ser3255Leu) rs114954026
NM_182961.4(SYNE1):c.9807+5C>T rs185350092
NM_182961.4(SYNE1):c.9890C>T (p.Thr3297Met) rs150912982
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=) rs73626656
NM_182961.4(SYNE1):c.9960G>A (p.Thr3320=) rs747731841

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.