ClinVar Miner

Variants with conflicting interpretations studied for Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Coded as:
Minimum review status of the submission for Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant: Y axis collection method of the submission for Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant:
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
151 133 0 115 78 0 3 182

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
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 0 1 0 0
uncertain significance 1 0 0 25 2
likely benign 0 0 42 0 8
benign 0 1 10 107 0

Condition to condition summary #

Total conditions: 7
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 specified 0 76 0 87 25 0 0 109
Cerebellar ataxia 0 58 0 80 22 0 0 102
Emery-Dreifuss muscular dystrophy 0 58 0 80 22 0 0 102
not provided 0 149 0 16 41 0 1 55
Abnormality of brain morphology 0 0 0 0 0 0 1 1
Cardiomyopathy 0 0 0 0 1 0 0 1
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 182
Download table as spreadsheet
HGVS dbSNP
NM_033071.3(SYNE1):c.10043T>C (p.Val3348Ala) rs138693624
NM_033071.3(SYNE1):c.10058C>A (p.Ser3353Tyr) rs150170988
NM_033071.3(SYNE1):c.10077T>C (p.Ser3359=) rs140861713
NM_033071.3(SYNE1):c.10228G>A (p.Gly3410Ser) rs116758271
NM_033071.3(SYNE1):c.10302G>T (p.Thr3434=) rs147402839
NM_033071.3(SYNE1):c.10543T>C (p.Leu3515=) rs62426382
NM_033071.3(SYNE1):c.1059T>C (p.Asp353=) rs144105769
NM_033071.3(SYNE1):c.10619G>A (p.Arg3540His) rs145911138
NM_033071.3(SYNE1):c.10807G>A (p.Val3603Met) rs143034104
NM_033071.3(SYNE1):c.10821G>A (p.Leu3607=) rs114858512
NM_033071.3(SYNE1):c.10848A>C (p.Gln3616His) rs79486252
NM_033071.3(SYNE1):c.11082A>G (p.Glu3694=) rs149260051
NM_033071.3(SYNE1):c.11142G>T (p.Lys3714Asn) rs143070183
NM_033071.3(SYNE1):c.11151T>C (p.Ala3717=) rs138528119
NM_033071.3(SYNE1):c.11173A>G (p.Thr3725Ala) rs144797744
NM_033071.3(SYNE1):c.11310G>A (p.Arg3770=) rs151081036
NM_033071.3(SYNE1):c.1134A>G (p.Pro378=) rs374376301
NM_033071.3(SYNE1):c.11385G>A (p.Thr3795=) rs137919524
NM_033071.3(SYNE1):c.11496G>A (p.Met3832Ile) rs74463786
NM_033071.3(SYNE1):c.11576A>C (p.Lys3859Thr) rs13210127
NM_033071.3(SYNE1):c.1162G>A (p.Asp388Asn) rs146366996
NM_033071.3(SYNE1):c.11787G>A (p.Ala3929=) rs148493518
NM_033071.3(SYNE1):c.11844G>A (p.Ala3948=) rs144596829
NM_033071.3(SYNE1):c.11848T>C (p.Cys3950Arg) rs111449472
NM_033071.3(SYNE1):c.11925G>A (p.Gln3975=) rs60344647
NM_033071.3(SYNE1):c.11957C>T (p.Pro3986Leu) rs150179494
NM_033071.3(SYNE1):c.12137C>T (p.Thr4046Met) rs146567178
NM_033071.3(SYNE1):c.12149_12150delAGinsGT (p.Lys4050Ser) rs386707192
NM_033071.3(SYNE1):c.12198C>T (p.His4066=) rs751325537
NM_033071.3(SYNE1):c.12229G>C (p.Asp4077His) rs117501809
NM_033071.3(SYNE1):c.12352G>A (p.Val4118Met) rs148204741
NM_033071.3(SYNE1):c.12371delA (p.Lys4124Argfs) rs886042380
NM_033071.3(SYNE1):c.12394G>A (p.Glu4132Lys) rs2130262
NM_033071.3(SYNE1):c.13008C>T (p.Asp4336=) rs10499268
NM_033071.3(SYNE1):c.1311C>T (p.Thr437=) rs755709525
NM_033071.3(SYNE1):c.13423G>A (p.Val4475Ile) rs4870093
NM_033071.3(SYNE1):c.13650G>A (p.Thr4550=) rs112266645
NM_033071.3(SYNE1):c.13696G>A (p.Asp4566Asn) rs142388112
NM_033071.3(SYNE1):c.13773G>A (p.Lys4591=) rs17082484
NM_033071.3(SYNE1):c.13805G>A (p.Arg4602Gln) rs144963785
NM_033071.3(SYNE1):c.13894G>A (p.Asp4632Asn) rs116000545
NM_033071.3(SYNE1):c.13902C>T (p.Ala4634=) rs377739292
NM_033071.3(SYNE1):c.13950C>T (p.Asp4650=) rs3734366
NM_033071.3(SYNE1):c.14050C>T (p.Leu4684Phe) rs41301343
NM_033071.3(SYNE1):c.14412G>A (p.Thr4804=) rs140118684
NM_033071.3(SYNE1):c.14556A>G (p.Glu4852=) rs141057568
NM_033071.3(SYNE1):c.14704C>T (p.Leu4902=) rs35085679
NM_033071.3(SYNE1):c.15100G>A (p.Asp5034Asn) rs35493783
NM_033071.3(SYNE1):c.15124G>A (p.Val5042Ile) rs139170018
NM_033071.3(SYNE1):c.15384C>G (p.Ala5128=) rs9383987
NM_033071.3(SYNE1):c.156T>C (p.Asp52=) rs139156106
NM_033071.3(SYNE1):c.15916A>C (p.Met5306Leu) rs35987150
NM_033071.3(SYNE1):c.16064C>T (p.Thr5355Met) rs2306914
NM_033071.3(SYNE1):c.16083G>A (p.Arg5361=) rs144376043
NM_033071.3(SYNE1):c.1653+6T>C rs758756977
NM_033071.3(SYNE1):c.16962C>T (p.Thr5654=) rs200002217
NM_033071.3(SYNE1):c.17126G>A (p.Arg5709Gln) rs76160752
NM_033071.3(SYNE1):c.17205G>A (p.Thr5735=) rs17082422
NM_033071.3(SYNE1):c.17270C>G (p.Thr5757Arg) rs150376715
NM_033071.3(SYNE1):c.17292C>T (p.Leu5764=) rs148731167
NM_033071.3(SYNE1):c.17584G>A (p.Ala5862Thr) rs113962905
NM_033071.3(SYNE1):c.17614T>C (p.Ser5872Pro) rs147998933
NM_033071.3(SYNE1):c.17901G>A (p.Ala5967=) rs149923357
NM_033071.3(SYNE1):c.17972C>T (p.Ser5991Leu) rs139790539
NM_033071.3(SYNE1):c.1815A>C (p.Ser605=) rs141424852
NM_033071.3(SYNE1):c.18576G>A (p.Ser6192=) rs150905950
NM_033071.3(SYNE1):c.18588C>T (p.Thr6196=) rs116007471
NM_033071.3(SYNE1):c.1859C>T (p.Ser620Phe) rs140135976
NM_033071.3(SYNE1):c.18668A>T (p.Gln6223Leu) rs140090745
NM_033071.3(SYNE1):c.18786G>C (p.Leu6262Phe) rs141934037
NM_033071.3(SYNE1):c.18813C>T (p.Asp6271=) rs370053768
NM_033071.3(SYNE1):c.1899A>G (p.Gln633=) rs62427038
NM_033071.3(SYNE1):c.19321G>T (p.Ala6441Ser) rs149272010
NM_033071.3(SYNE1):c.19479+3G>A rs150304757
NM_033071.3(SYNE1):c.19485G>T (p.Met6495Ile) rs35654757
NM_033071.3(SYNE1):c.19714T>C (p.Leu6572=) rs143118084
NM_033071.3(SYNE1):c.19776T>C (p.His6592=) rs61746395
NM_033071.3(SYNE1):c.19778C>T (p.Thr6593Ile) rs35079654
NM_033071.3(SYNE1):c.19814G>A (p.Arg6605Gln) rs190673256
NM_033071.3(SYNE1):c.1985A>G (p.Gln662Arg) rs9397509
NM_033071.3(SYNE1):c.2004C>T (p.Asn668=) rs149670417
NM_033071.3(SYNE1):c.20079T>C (p.Asp6693=) rs73619386
NM_033071.3(SYNE1):c.20358A>T (p.Ser6786=) rs34905593
NM_033071.3(SYNE1):c.20433G>A (p.Ser6811=) rs138628147
NM_033071.3(SYNE1):c.20517G>C (p.Leu6839=) rs367864272
NM_033071.3(SYNE1):c.20936G>A (p.Arg6979Gln) rs143639400
NM_033071.3(SYNE1):c.21117C>T (p.Thr7039=) rs75469773
NM_033071.3(SYNE1):c.21310-8T>G rs187773880
NM_033071.3(SYNE1):c.21568C>A (p.Arg7190=) rs138032057
NM_033071.3(SYNE1):c.21669C>A (p.Gly7223=) rs35106977
NM_033071.3(SYNE1):c.21825A>G (p.Ser7275=) rs201392317
NM_033071.3(SYNE1):c.21855C>T (p.Thr7285=) rs35686213
NM_033071.3(SYNE1):c.21924C>T (p.Asp7308=) rs148556501
NM_033071.3(SYNE1):c.2198A>G (p.Glu733Gly) rs35297226
NM_033071.3(SYNE1):c.22068C>A (p.Ile7356=) rs139362680
NM_033071.3(SYNE1):c.22239A>G (p.Ser7413=) rs36044575
NM_033071.3(SYNE1):c.22260G>A (p.Leu7420=) rs34891041
NM_033071.3(SYNE1):c.22303A>G (p.Ser7435Gly) rs35763277
NM_033071.3(SYNE1):c.22341G>A (p.Gly7447=) rs148240825
NM_033071.3(SYNE1):c.2241G>A (p.Met747Ile) rs146001055
NM_033071.3(SYNE1):c.22596C>T (p.Leu7532=) rs34630198
NM_033071.3(SYNE1):c.22689G>A (p.Ser7563=) rs140577642
NM_033071.3(SYNE1):c.22700G>A (p.Gly7567Asp) rs142117628
NM_033071.3(SYNE1):c.23046C>T (p.Arg7682=) rs139590550
NM_033071.3(SYNE1):c.23102G>A (p.Arg7701Gln) rs138787771
NM_033071.3(SYNE1):c.23193A>G (p.Lys7731=) rs780485635
NM_033071.3(SYNE1):c.23248-6A>C rs145098375
NM_033071.3(SYNE1):c.23530G>A (p.Asp7844Asn) rs76699382
NM_033071.3(SYNE1):c.24012A>G (p.Ala8004=) rs910415
NM_033071.3(SYNE1):c.24136C>T (p.Arg8046Trp) rs144056525
NM_033071.3(SYNE1):c.2416G>A (p.Val806Ile) rs199670962
NM_033071.3(SYNE1):c.24268A>C (p.Asn8090His) rs36215251
NM_033071.3(SYNE1):c.24342C>T (p.Ile8114=) rs201799566
NM_033071.3(SYNE1):c.24420C>T (p.Ile8140=) rs201078523
NM_033071.3(SYNE1):c.24504C>G (p.His8168Gln) rs201548223
NM_033071.3(SYNE1):c.24510C>G (p.His8170Gln) rs141586001
NM_033071.3(SYNE1):c.245G>T (p.Arg82Leu) rs143900928
NM_033071.3(SYNE1):c.24614C>G (p.Ala8205Gly) rs142985368
NM_033071.3(SYNE1):c.24648C>T (p.His8216=) rs202207154
NM_033071.3(SYNE1):c.24739C>T (p.Leu8247Phe) rs141716975
NM_033071.3(SYNE1):c.24942G>A (p.Thr8314=) rs377302991
NM_033071.3(SYNE1):c.25002C>T (p.Ser8334=) rs151034170
NM_033071.3(SYNE1):c.25079A>G (p.His8360Arg) rs375476506
NM_033071.3(SYNE1):c.2508C>T (p.Asp836=) rs753367709
NM_033071.3(SYNE1):c.25237G>A (p.Glu8413Lys) rs119103248
NM_033071.3(SYNE1):c.2548C>T (p.Arg850Cys) rs34610829
NM_033071.3(SYNE1):c.25712T>C (p.Leu8571Pro) rs139834542
NM_033071.3(SYNE1):c.25858-4A>G rs77220999
NM_033071.3(SYNE1):c.26065G>A (p.Gly8689Ser) rs2295191
NM_033071.3(SYNE1):c.2718A>G (p.Arg906=) rs75817012
NM_033071.3(SYNE1):c.2903G>A (p.Arg968Gln) rs76646638
NM_033071.3(SYNE1):c.3016G>A (p.Glu1006Lys) rs148346599
NM_033071.3(SYNE1):c.3141T>A (p.Thr1047=) rs147176678
NM_033071.3(SYNE1):c.3292C>T (p.Arg1098Trp) rs147841761
NM_033071.3(SYNE1):c.330G>A (p.Pro110=) rs143635963
NM_033071.3(SYNE1):c.3690+10T>C rs187598275
NM_033071.3(SYNE1):c.3690+4C>G rs376511242
NM_033071.3(SYNE1):c.3825G>A (p.Leu1275=) rs139524103
NM_033071.3(SYNE1):c.3911C>T (p.Ala1304Val) rs35378260
NM_033071.3(SYNE1):c.3955G>A (p.Glu1319Lys) rs200276242
NM_033071.3(SYNE1):c.3981A>G (p.Thr1327=) rs138705766
NM_033071.3(SYNE1):c.4052G>A (p.Arg1351Gln) rs144566713
NM_033071.3(SYNE1):c.4128T>A (p.Phe1376Leu) rs149109801
NM_033071.3(SYNE1):c.4617C>T (p.Tyr1539=) rs138264334
NM_033071.3(SYNE1):c.4631G>A (p.Arg1544Gln) rs369775705
NM_033071.3(SYNE1):c.4778C>A (p.Thr1593Lys) rs77675624
NM_033071.3(SYNE1):c.4843G>A (p.Ala1615Thr) rs138617999
NM_033071.3(SYNE1):c.4845G>A (p.Ala1615=) rs369587906
NM_033071.3(SYNE1):c.4905G>A (p.Glu1635=) rs886042121
NM_033071.3(SYNE1):c.5013A>G (p.Leu1671=) rs187410988
NM_033071.3(SYNE1):c.5122G>T (p.Ala1708Ser) rs149758808
NM_033071.3(SYNE1):c.5150C>A (p.Ala1717Asp) rs150702500
NM_033071.3(SYNE1):c.5211T>A (p.Asp1737Glu) rs111250109
NM_033071.3(SYNE1):c.5280T>C (p.Ile1760=) rs147508177
NM_033071.3(SYNE1):c.5442+9G>T rs376218204
NM_033071.3(SYNE1):c.5450C>T (p.Ala1817Val) rs76393834
NM_033071.3(SYNE1):c.6156T>G (p.Ile2052Met) rs116600265
NM_033071.3(SYNE1):c.6491A>G (p.Lys2164Arg) rs75989452
NM_033071.3(SYNE1):c.6542C>T (p.Thr2181Ile) rs141858284
NM_033071.3(SYNE1):c.6910G>A (p.Gly2304Arg) rs117184249
NM_033071.3(SYNE1):c.6929C>T (p.Thr2310Met) rs190867604
NM_033071.3(SYNE1):c.6990G>A (p.Val2330=) rs140986546
NM_033071.3(SYNE1):c.7177A>G (p.Ile2393Val) rs147947903
NM_033071.3(SYNE1):c.7668C>T (p.His2556=) rs113163375
NM_033071.3(SYNE1):c.7734-4T>C rs571742202
NM_033071.3(SYNE1):c.7997C>A (p.Thr2666Asn) rs117480635
NM_033071.3(SYNE1):c.8036T>C (p.Leu2679Pro) rs147870520
NM_033071.3(SYNE1):c.8184C>T (p.Ser2728=) rs58905396
NM_033071.3(SYNE1):c.8185G>A (p.Val2729Ile) rs151091241
NM_033071.3(SYNE1):c.8198+9C>T rs56877632
NM_033071.3(SYNE1):c.8357T>G (p.Ile2786Ser) rs77121899
NM_033071.3(SYNE1):c.8381C>T (p.Thr2794Met) rs142676206
NM_033071.3(SYNE1):c.8421C>T (p.Leu2807=) rs114747836
NM_033071.3(SYNE1):c.8994G>A (p.Thr2998=) rs146424389
NM_033071.3(SYNE1):c.9169C>G (p.Leu3057Val) rs117360770
NM_033071.3(SYNE1):c.9186C>A (p.Ser3062=) rs117020413
NM_033071.3(SYNE1):c.9510A>G (p.Gln3170=) rs35379711
NM_033071.3(SYNE1):c.9563G>A (p.Ser3188Asn) rs140508714
NM_033071.3(SYNE1):c.9785C>T (p.Ser3262Leu) rs114954026
NM_033071.3(SYNE1):c.9911C>T (p.Thr3304Met) rs150912982
NM_033071.3(SYNE1):c.9975C>T (p.Ser3325=) rs73626656
NM_033071.3(SYNE1):c.9981G>A (p.Thr3327=) rs747731841

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