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Links from MedGen

Items: 89

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:152749488
GRCh38:
Chr6:152428353
SYNE1T1610S, T1617SArthrogryposis multiplex congenita 3, myogenic typeUncertain significancecriteria provided, single submitter
2.
GRCh37:
Chr6:152763215
GRCh38:
Chr6:152442080
SYNE1I1335V, I1342VArthrogryposis multiplex congenita 3, myogenic typeUncertain significancecriteria provided, single submitter
3.
GRCh37:
Chr6:152749509
GRCh38:
Chr6:152428374
SYNE1E1610K, E1603KArthrogryposis multiplex congenita 3, myogenic typeUncertain significancecriteria provided, single submitter
4.
GRCh37:
Chr6:152702289
GRCh38:
Chr6:152381154
SYNE1, SYNE1-AS1S2954*, S2961*Arthrogryposis multiplex congenita 3, myogenic typeLikely pathogeniccriteria provided, single submitter
5.
GRCh37:
Chr6:152957772
GRCh38:
Chr6:152636637
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Uncertain significance
(Mar 30, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr6:152725452
GRCh38:
Chr6:152404317
SYNE1Arthrogryposis multiplex congenita 3, myogenic typeUncertain significance
(Jul 1, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr6:152510405
GRCh38:
Chr6:152189270
SYNE1W7690*, W7761*Arthrogryposis multiplex congenita 3, myogenic typePathogeniccriteria provided, single submitter
8.
GRCh37:
Chr6:152583184
GRCh38:
Chr6:152262049
SYNE1Q6248*, Q6319*Arthrogryposis multiplex congenita 3, myogenic typePathogeniccriteria provided, single submitter
9.
GRCh37:
Chr6:152470654
GRCh38:
Chr6:152149519
SYNE1Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
Arthrogryposis multiplex congenita 3, myogenic type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, not provided
Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr6:152466622
GRCh38:
Chr6:152145487
SYNE1G8278R, G504RAutosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Arthrogryposis multiplex congenita 3, myogenic type,
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Uncertain significance
(Mar 3, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr6:152546934
GRCh38:
Chr6:152225799
SYNE1N7020K, N7091KEmery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type, Arthrogryposis multiplex congenita 3, myogenic type
Uncertain significance
(Feb 21, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr6:152456310
GRCh38:
Chr6:152135175
SYNE1K751*, K775*, K8525*, K8573*Arthrogryposis multiplex congenita 3, myogenic typeLikely pathogenic
(Jan 5, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr6:152688511
GRCh38:
Chr6:152367376
SYNE1V3272L, V3279LEmery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type, Arthrogryposis multiplex congenita 3, myogenic type,
not provided
Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr6:152451856
GRCh38:
Chr6:152130721
SYNE1R8670G, R8718G, R896GArthrogryposis multiplex congenita 3, myogenic type, not providedUncertain significance
(May 20, 2021)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr6:152457889
GRCh38:
Chr6:152136754
SYNE1E710G, E8508G, E686G, E8460GArthrogryposis multiplex congenita 3, myogenic typeUncertain significance
(May 5, 2020)
criteria provided, single submitter
16.
GRCh37:
Chr6:152652865
GRCh38:
Chr6:152331730
SYNE1S4319R, S4248RArthrogryposis multiplex congenita 3, myogenic typeUncertain significance
(Nov 25, 2019)
criteria provided, single submitter
17.
GRCh37:
Chr6:152583193
GRCh38:
Chr6:152262058
SYNE1V6245I, V6316IAutosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Arthrogryposis multiplex congenita 3, myogenic type,
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Uncertain significance
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr6:152702381
GRCh38:
Chr6:152381246
SYNE1, SYNE1-AS1M2923I, M2930IArthrogryposis multiplex congenita 3, myogenic typeUncertain significance
(Jan 1, 2019)
criteria provided, single submitter
19.
GRCh37:
Chr6:152630985
GRCh38:
Chr6:152309850
LOC126859837, SYNE1Q5658H, Q5729Hnot provided, Arthrogryposis multiplex congenita 3, myogenic typeUncertain significance
(Nov 3, 2021)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr6:152473105
GRCh38:
Chr6:152151970
SYNE1R303C, R256C, R8030C, R8101CEmery-Dreifuss muscular dystrophy 4, autosomal dominant, Arthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type, not provided
Uncertain significance
(Dec 16, 2021)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr6:152454490
GRCh38:
Chr6:152133355
SYNE1R819Q, R843Q, R8641Q, R8593QArthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
not provided
Uncertain significance
(Aug 3, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr6:152765537
GRCh38:
Chr6:152444402
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
not provided
Likely benign
(Aug 10, 2021)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr6:152629815
GRCh38:
Chr6:152308680
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, not provided, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr6:152674472
GRCh38:
Chr6:152353337
SYNE1N3712H, N3727HAutosomal recessive ataxia, Beauce type, Arthrogryposis multiplex congenita 3, myogenic type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Uncertain significance
(Jan 6, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr6:152532698
GRCh38:
Chr6:152211563
SYNE1R7507H, R7436HEmery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type, Arthrogryposis multiplex congenita 3, myogenic type
Uncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr6:152443729
GRCh38:
Chr6:152122594
ESR1, SYNE1R8746*, R8698*, R924*Arthrogryposis multiplex congenita 3, myogenic typePathogeniccriteria provided, single submitter
27.
GRCh37:
Chr6:152673326
GRCh38:
Chr6:152352191
SYNE1K3791E, K3806EEmery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type, Arthrogryposis multiplex congenita 3, myogenic type,
not provided
Uncertain significance
(Apr 4, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr6:152694285
GRCh38:
Chr6:152373150
SYNE1S3132G, S3139Gnot provided, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Arthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Uncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr6:152748880
GRCh38:
Chr6:152427745
SYNE1M1683R, M1690REmery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type, Arthrogryposis multiplex congenita 3, myogenic type,
not provided
Uncertain significance
(Jan 17, 2023)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr6:152557936
GRCh38:
Chr6:152236801
SYNE1Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type, not specified,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type, Arthrogryposis multiplex congenita 3, myogenic type
Benign/Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr6:152841659
GRCh38:
Chr6:152520524
SYNE1R82WAutosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Arthrogryposis multiplex congenita 3, myogenic type,
not provided
Uncertain significance
(Aug 19, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr6:152832135
GRCh38:
Chr6:152511000
SYNE1not specified, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Arthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Beauce type,
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr6:152671919-152671920
GRCh38:
Chr6:152350784-152350785
SYNE1Cerebellar ataxia, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
not provided, Arthrogryposis multiplex congenita 3, myogenic type, Emery-Dreifuss muscular dystrophy,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr6:152647218
GRCh38:
Chr6:152326083
SYNE1D5034N, D5105Nnot specified, not provided, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Arthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type
Benign/Likely benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr6:152660455
GRCh38:
Chr6:152339320
SYNE1D4020G, D4091GAutosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, not specified,
not provided
Uncertain significance
(Aug 20, 2021)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr6:152749427
GRCh38:
Chr6:152428292
SYNE1A1637V, A1630Vnot specified, not provided, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Arthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign/Likely benign
(Jun 1, 2023)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr6:152462438
GRCh38:
Chr6:152141303
SYNE1not specified, Autosomal recessive ataxia, Beauce type, Arthrogryposis multiplex congenita 3, myogenic type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr6:152665271
GRCh38:
Chr6:152344136
SYNE1P3986L, P4057LAutosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Arthrogryposis multiplex congenita 3, myogenic type, not specified,
not provided
Benign/Likely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr6:152470773
GRCh38:
Chr6:152149638
SYNE1N8090H, N8161H, N316H, N363HEmery-Dreifuss muscular dystrophy 4, autosomal dominant, Arthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Beauce type,
not provided, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
not specified, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign/Likely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr6:152658093
GRCh38:
Chr6:152336958
SYNE1not provided, not specified, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Arthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign/Likely benign
(Oct 12, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr6:152841662
GRCh38:
Chr6:152520527
SYNE1R81CArthrogryposis multiplex congenita 3, myogenic type, not provided, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Uncertain significance
(Aug 31, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr6:152470677
GRCh38:
Chr6:152149542
SYNE1R8122*, R8193*, R348*, R395*not providedPathogenic
(Oct 12, 2018)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr6:152651657
GRCh38:
Chr6:152330522
SYNE1Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type, Arthrogryposis multiplex congenita 3, myogenic type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Autosomal recessive ataxia, Beauce type, not specified
Benign/Likely benign
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr6:152631566
GRCh38:
Chr6:152310431
LOC126859837, SYNE1R5591C, R5662CAutosomal recessive ataxia, Beauce type, SYNE1-related condition, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Arthrogryposis multiplex congenita 3, myogenic type,
Inborn genetic diseases, not provided
Conflicting interpretations of pathogenicity
(Aug 24, 2023)
criteria provided, conflicting interpretations
45.
GRCh37:
Chr6:152777051
GRCh38:
Chr6:152455916
SYNE1Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Arthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type, not specified,
not provided, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type
Benign/Likely benign
(Sep 20, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr6:152631566
GRCh38:
Chr6:152310431
LOC126859837, SYNE1R5662S, R5591SArthrogryposis multiplex congenita 3, myogenic type, not specified, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, not provided
Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr6:152768756
GRCh38:
Chr6:152447621
SYNE1E1169V, E1176VEmery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type, Arthrogryposis multiplex congenita 3, myogenic type,
not provided
Uncertain significance
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr6:152674433
GRCh38:
Chr6:152353298
SYNE1T3725A, T3740AAutosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, not provided
Conflicting interpretations of pathogenicity
(Oct 28, 2022)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr6:152841678-152841679
GRCh38:
Chr6:152520543-152520544
SYNE1not provided, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Conflicting interpretations of pathogenicity
(Feb 10, 2023)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr6:152671475
GRCh38:
Chr6:152350340
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, not provided, Autosomal recessive ataxia, Beauce type,
not specified, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr6:152690559
GRCh38:
Chr6:152369424
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, not specified, not provided,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type
Benign
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr6:152697706
GRCh38:
Chr6:152376571
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
not specified, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr6:152711395
GRCh38:
Chr6:152390260
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, not specified, Autosomal recessive ataxia, Beauce type
Benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr6:152712752
GRCh38:
Chr6:152391617
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, not provided, Autosomal recessive ataxia, Beauce type,
not specified, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr6:152722228
GRCh38:
Chr6:152401093
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Beauce type, not provided,
not specified, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr6:152768796
GRCh38:
Chr6:152447661
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, not specified, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Autosomal recessive ataxia, Beauce type, not provided
Benign
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr6:152570415
GRCh38:
Chr6:152249280
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Autosomal recessive ataxia, Beauce type, not specified, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr6:152629586
GRCh38:
Chr6:152308451
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
not specified, not provided
Benign
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr6:152630946
GRCh38:
Chr6:152309811
SYNE1, LOC126859837Arthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Autosomal recessive ataxia, Beauce type, not specified, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr6:152793412
GRCh38:
Chr6:152472277
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, not provided, Autosomal recessive ataxia, Beauce type,
not specified, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr6:152793572
GRCh38:
Chr6:152472437
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, not specified, not provided,
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr6:152847335
GRCh38:
Chr6:152526200
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, not provided, Autosomal recessive ataxia, Beauce type,
not specified, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr6:152653037
GRCh38:
Chr6:152331902
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
Autosomal recessive ataxia, Beauce type, not specified, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr6:152658191
GRCh38:
Chr6:152337056
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, not specified, not provided,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type
Benign
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr6:152673147
GRCh38:
Chr6:152352012
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
not specified, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr6:152673519
GRCh38:
Chr6:152352384
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, not specified, Autosomal recessive ataxia, Beauce type,
not provided, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr6:152674464
GRCh38:
Chr6:152353329
SYNE1K3714N, K3729NAutosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Arthrogryposis multiplex congenita 3, myogenic type,
not specified, not provided, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Autosomal recessive ataxia, Beauce type, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign/Likely benign
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr6:152686090
GRCh38:
Chr6:152364955
SYNE1S3346Y, S3353YAutosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Arthrogryposis multiplex congenita 3, myogenic type,
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, not specified,
not provided, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type
Benign/Likely benign
(Sep 1, 2023)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr6:152570360
GRCh38:
Chr6:152249225
SYNE1N6432S, N6503SArthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, not provided,
not specified, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign/Likely benign
(Oct 21, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr6:152694184
GRCh38:
Chr6:152373049
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
not provided, not specified, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr6:152708358
GRCh38:
Chr6:152387223
SYNE1I2779S, I2786SArthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, not specified,
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr6:152751278
GRCh38:
Chr6:152430143
SYNE1T1586K, T1593KEmery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type, Arthrogryposis multiplex congenita 3, myogenic type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type, not specified,
not provided, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type
Benign/Likely benign
(Feb 1, 2023)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr6:152763368
GRCh38:
Chr6:152442233
SYNE1R1284W, R1291Wnot provided, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Arthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Beauce type
Uncertain significance
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr6:152765579
GRCh38:
Chr6:152444444
SYNE1Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type, Arthrogryposis multiplex congenita 3, myogenic type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type, not specified,
not provided, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type
Benign/Likely benign
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr6:152772264
GRCh38:
Chr6:152451129
SYNE1V1035A, V1042AArthrogryposis multiplex congenita 3, myogenic type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
not specified, not provided, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr6:152464839
GRCh38:
Chr6:152143704
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
not specified, not provided, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr6:152540278
GRCh38:
Chr6:152219143
SYNE1F7231V, F7302VArthrogryposis multiplex congenita 3, myogenic type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
not specified, not provided, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Autosomal recessive ataxia, Beauce type
Benign/Likely benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr6:152555057
GRCh38:
Chr6:152233922
SYNE1Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Arthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type, not specified,
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign/Likely benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr6:152623127
GRCh38:
Chr6:152301992
SYNE1, LOC129997480Arthrogryposis multiplex congenita 3, myogenic type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type, not specified,
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr6:152629617
GRCh38:
Chr6:152308482
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
not specified, not provided, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Autosomal recessive ataxia, Beauce type
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr6:152647681
GRCh38:
Chr6:152326546
SYNE1L4944M, L5015MArthrogryposis multiplex congenita 3, myogenic type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
not specified, not provided, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr6:152652034
GRCh38:
Chr6:152330899
SYNE1S4525T, S4596TArthrogryposis multiplex congenita 3, myogenic type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
not specified, not provided, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Autosomal recessive ataxia, Beauce type
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr6:152658142
GRCh38:
Chr6:152337007
SYNE1K4050R, K4121RArthrogryposis multiplex congenita 3, myogenic type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
not provided, not specified, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr6:152665261
GRCh38:
Chr6:152344126
SYNE1E3989D, E4060DArthrogryposis multiplex congenita 3, myogenic type, not specified, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Autosomal recessive ataxia, Beauce type, not provided, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Autosomal recessive ataxia, Beauce type
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr6:152675854
GRCh38:
Chr6:152354719
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
not specified, not provided, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr6:152809527
GRCh38:
Chr6:152488392
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, not specified, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Autosomal recessive ataxia, Beauce type, not provided, Autosomal recessive ataxia, Beauce type,
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr6:152683397
GRCh38:
Chr6:152362262
SYNE1G3403S, G3410SArthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, not specified,
not provided, Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Benign/Likely benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr6:152683413
GRCh38:
Chr6:152362278
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia, Beauce type,
not specified, not provided, Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
Autosomal recessive ataxia, Beauce type
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr6:152472827
GRCh38:
Chr6:152151692
SYNE1Arthrogryposis multiplex congenita 3, myogenic typePathogenic
(Sep 15, 2009)
no assertion criteria provided
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