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Items: 1 to 100 of 1409

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:179391754
GRCh38:
Chr2:178527027
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GMAF:0.00040(G)
GO-ESP:0.00063(G)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr2:179391800
GRCh38:
Chr2:178527073
TTN, TTN-AS1not specifiedGO-ESP:0.00004(A)Uncertain significance
(Dec 22, 2015)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr2:179391818
GRCh38:
Chr2:178527091
TTN, TTN-AS1not specifiedGO-ESP:0.00001(T)Uncertain significance
(Mar 14, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr2:179391949
GRCh38:
Chr2:178527222
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified,
Cardiovascular phenotype
GO-ESP:0.00067(G)
GMAF:0.00020(G)
GO-ESP:0.00024(G)
Benign/Likely benign
(Nov 24, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr2:179391962
GRCh38:
Chr2:178527235
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified,
not provided
GMAF:0.00040(T)
GO-ESP:0.00010(T)
Uncertain significance
(Sep 12, 2016)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr2:179392015
GRCh38:
Chr2:178527288
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified
GO-ESP:0.00135(C)
GMAF:0.00600(C)
GO-ESP:0.00442(C)
Benign/Likely benign
(Dec 25, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr2:179392182
GRCh38:
Chr2:178527455
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified
GO-ESP:0.00007(T)Uncertain significance
(Aug 3, 2016)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr2:179392196
GRCh38:
Chr2:178527469
TTN, TTN-AS1not specifiedGO-ESP:0.00002(C)Likely benign
(Mar 27, 2013)
criteria provided, single submitter
9.
GRCh37:
Chr2:179392248
GRCh38:
Chr2:178527521
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified
GO-ESP:0.00092(C)
GMAF:0.00040(C)
GO-ESP:0.00034(C)
Conflicting interpretations of pathogenicity
(Dec 27, 2016)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr2:179392277
GRCh38:
Chr2:178527550
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified,
not provided, Cardiovascular phenotype
GO-ESP:0.00107(G)
GMAF:0.00220(G)
GO-ESP:0.00225(G)
Conflicting interpretations of pathogenicity
(Jan 12, 2017)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr2:179392456
GRCh38:
Chr2:178527729
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive
GMAF:0.00040(A)
GO-ESP:0.00064(A)
Conflicting interpretations of pathogenicity
(Oct 17, 2016)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr2:179392987
GRCh38:
Chr2:178528260
TTN, TTN-AS1Distal myopathy Markesbery-Griggs type, Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy,
not specified, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.00021(A)Conflicting interpretations of pathogenicity
(Jan 7, 2017)
criteria provided, conflicting interpretations
13.
GRCh37:
Chr2:179393093
GRCh38:
Chr2:178528366
TTN, TTN-AS1not specifiedGO-ESP:0.00003(T)Uncertain significance
(Aug 14, 2012)
criteria provided, single submitter
14.
GRCh37:
Chr2:179393111
GRCh38:
Chr2:178528384
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.05134(G)
GMAF:0.09210(G)
GO-ESP:0.04466(G)
Benign/Likely benign
(Jan 23, 2017)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr2:179393254
GRCh38:
Chr2:178528527
TTN, TTN-AS1not specifiedUncertain significance
(Apr 8, 2015)
criteria provided, single submitter
16.
GRCh37:
Chr2:179393331
GRCh38:
Chr2:178528604
TTN, TTN-AS1not specifiedUncertain significance
(Feb 26, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr2:179393344
GRCh38:
Chr2:178528617
TTN, TTN-AS1not specifiedGO-ESP:0.00010(G)Conflicting interpretations of pathogenicity
(Jun 16, 2016)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr2:179393389
GRCh38:
Chr2:178528662
TTN, TTN-AS1not specified, not providedGMAF:0.00020(G)
GO-ESP:0.00050(G)
Conflicting interpretations of pathogenicity
(Sep 22, 2015)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr2:179393396
GRCh38:
Chr2:178528669
TTN, TTN-AS1not specifiedGO-ESP:0.00002(T)Likely benign
(Sep 17, 2014)
criteria provided, single submitter
20.
GRCh37:
Chr2:179393469
GRCh38:
Chr2:178528742
TTN, TTN-AS1not specifiedGMAF:0.00040(G)
GO-ESP:0.00004(G)
Uncertain significance
(Jun 30, 2014)
criteria provided, single submitter
21.
GRCh37:
Chr2:179393523
GRCh38:
Chr2:178528796
TTN, TTN-AS1not specifiedGO-ESP:0.00048(T)
GO-ESP:0.00018(T)
Uncertain significance
(Oct 29, 2015)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr2:179393558
GRCh38:
Chr2:178528831
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.00064(T)
GMAF:0.00040(T)
GO-ESP:0.00059(T)
Conflicting interpretations of pathogenicity
(Sep 27, 2016)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr2:179393602
GRCh38:
Chr2:178528875
TTN, TTN-AS1not specifiedGMAF:0.00060(C)
GO-ESP:0.00006(C)
Uncertain significance
(Jun 30, 2014)
criteria provided, single submitter
24.
GRCh37:
Chr2:179393621
GRCh38:
Chr2:178528894
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified
GO-ESP:0.00213(A)
GMAF:0.00280(A)
GO-ESP:0.00071(A)
Benign
(Jan 5, 2017)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr2:179393641
GRCh38:
Chr2:178528914
TTN, TTN-AS1not specifiedGO-ESP:0.00017(C)
GO-ESP:0.00005(C)
Uncertain significance
(Apr 24, 2012)
criteria provided, single submitter
26.
GRCh37:
Chr2:179393651
GRCh38:
Chr2:178528924
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified
GO-ESP:0.00020(C)Conflicting interpretations of pathogenicity
(Jun 9, 2016)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr2:179393658
GRCh38:
Chr2:178528931
TTN, TTN-AS1Distal myopathy Markesbery-Griggs type, Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy,
not specified, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.00016(A)Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr2:179393690
GRCh38:
Chr2:178528963
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified
GMAF:0.00020(A)
GO-ESP:0.00026(A)
Benign/Likely benign
(Nov 26, 2016)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr2:179393691
GRCh38:
Chr2:178528964
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.00492(A)
GMAF:0.00380(A)
GO-ESP:0.00979(A)
Benign/Likely benign
(Dec 27, 2016)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr2:179393742
GRCh38:
Chr2:178529015
TTN, TTN-AS1not specifiedUncertain significance
(Mar 26, 2013)
criteria provided, single submitter
31.
GRCh37:
Chr2:179393803
GRCh38:
Chr2:178529076
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
not provided, Hypertrophic cardiomyopathy, Cardiovascular phenotype,
Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive ...see more
GMAF:0.00040(G)
GO-ESP:0.00042(G)
Conflicting interpretations of pathogenicity, not provided
(Dec 15, 2016)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr2:179393840
GRCh38:
Chr2:178529113
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.00145(T)
GMAF:0.00600(T)
GO-ESP:0.00452(T)
Conflicting interpretations of pathogenicity
(Dec 1, 2016)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr2:179393859
GRCh38:
Chr2:178529132
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.01361(G)
GMAF:0.00460(G)
GO-ESP:0.01423(G)
Conflicting interpretations of pathogenicity
(Jan 19, 2017)
criteria provided, conflicting interpretations
34.
GRCh37:
Chr2:179393898
GRCh38:
Chr2:178529171
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
not provided, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.00026(A)
GMAF:0.00120(A)
GO-ESP:0.00081(A)
Conflicting interpretations of pathogenicity, not provided
(Oct 16, 2016)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr2:179393900
GRCh38:
Chr2:178529173
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive
GMAF:0.00120(T)
GO-ESP:0.00078(T)
Conflicting interpretations of pathogenicity
(Oct 16, 2016)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr2:179394742
GRCh38:
Chr2:178530015
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.01565(G)
GMAF:0.01240(G)
GO-ESP:0.00435(G)
Benign/Likely benign
(Dec 30, 2016)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr2:179394750
GRCh38:
Chr2:178530023
TTN, TTN-AS1not specifiedGO-ESP:0.00016(G)Uncertain significance
(Apr 23, 2015)
criteria provided, single submitter
38.
GRCh37:
Chr2:179394773
GRCh38:
Chr2:178530046
TTN, TTN-AS1not specifiedUncertain significance
(Apr 13, 2012)
criteria provided, single submitter
39.
GRCh37:
Chr2:179395067
GRCh38:
Chr2:178530340
TTN, TTN-AS1Distal myopathy Markesbery-Griggs type, Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy,
not specified, Hypertrophic cardiomyopathy, Cardiovascular phenotype,
Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.08400(G)
GMAF:0.05090(G)
GO-ESP:0.06654(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr2:179395221
GRCh38:
Chr2:178530494
TTN, TTN-AS1not specified, not providedGO-ESP:0.00016(T)Uncertain significance
(Apr 22, 2015)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr2:179395242
GRCh38:
Chr2:178530515
TTN, TTN-AS1not specifiedGO-ESP:0.00003(A)Uncertain significance
(Mar 4, 2015)
criteria provided, single submitter
42.
GRCh37:
Chr2:179395466
GRCh38:
Chr2:178530739
TTN, TTN-AS1not specifiedGMAF:0.00040(T)
GO-ESP:0.00005(T)
Conflicting interpretations of pathogenicity
(Sep 15, 2016)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr2:179395499
GRCh38:
Chr2:178530772
TTN, TTN-AS1not specifiedLikely benign
(Oct 1, 2015)
criteria provided, single submitter
44.
GRCh37:
Chr2:179395554
GRCh38:
Chr2:178530827
TTN, TTN-AS1not specified, Cardiovascular phenotypeGO-ESP:0.01046(A)
GMAF:0.00520(A)
GO-ESP:0.01138(A)
Benign/Likely benign
(Jun 24, 2013)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr2:179395555
GRCh38:
Chr2:178530828
TTN, TTN-AS1not specified, Cardiovascular phenotypeGO-ESP:0.01046(A)
GMAF:0.00520(A)
GO-ESP:0.01134(A)
Benign/Likely benign
(Jun 24, 2013)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr2:179395560
GRCh38:
Chr2:178530833
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.03584(A)
GMAF:0.07930(A)
GO-ESP:0.04013(A)
Benign/Likely benign
(Jan 23, 2017)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr2:179395573
GRCh38:
Chr2:178530846
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified,
Cardiovascular phenotype
GO-ESP:0.01275(T)
GMAF:0.00660(T)
GO-ESP:0.01394(T)
Benign/Likely benign
(Jan 6, 2017)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr2:179395623
GRCh38:
Chr2:178530896
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified
GMAF:0.00020(T)
GO-ESP:0.00008(T)
Conflicting interpretations of pathogenicity
(Dec 25, 2016)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr2:179395712
GRCh38:
Chr2:178530985
TTN, TTN-AS1not specifiedUncertain significance
(Dec 13, 2011)
criteria provided, single submitter
50.
GRCh37:
Chr2:179395717
GRCh38:
Chr2:178530990
TTN, TTN-AS1not specifiedGMAF:0.00020(G)
GO-ESP:0.00002(G)
Uncertain significance
(Jul 8, 2014)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr2:179395741
GRCh38:
Chr2:178531014
TTN, TTN-AS1not specifiedGO-ESP:0.00006(T)Uncertain significance
(Aug 21, 2012)
criteria provided, single submitter
52.
GRCh37:
Chr2:179395752
GRCh38:
Chr2:178531025
TTN, TTN-AS1not specified, not providedGO-ESP:0.00004(T)Uncertain significance
(Feb 23, 2012)
criteria provided, single submitter
53.
GRCh37:
Chr2:179395760
GRCh38:
Chr2:178531033
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.05019(A)
GMAF:0.09130(A)
GO-ESP:0.04429(A)
Benign/Likely benign
(Jan 23, 2017)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr2:179395780
GRCh38:
Chr2:178531053
TTN, TTN-AS1not specifiedGO-ESP:0.00002(G)Uncertain significance
(Feb 27, 2014)
criteria provided, single submitter
55.
GRCh37:
Chr2:179395811
GRCh38:
Chr2:178531084
TTN, TTN-AS1not specifiedLikely benign
(Oct 22, 2014)
criteria provided, single submitter
56.
GRCh37:
Chr2:179395813
GRCh38:
Chr2:178531086
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.01058(T)
GMAF:0.01060(T)
GO-ESP:0.00308(T)
Benign/Likely benign
(Jan 18, 2017)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr2:179395874
GRCh38:
Chr2:178531147
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.00869(T)
GMAF:0.00320(T)
GO-ESP:0.00888(T)
Conflicting interpretations of pathogenicity
(Jan 21, 2017)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr2:179395876
GRCh38:
Chr2:178531149
TTN, TTN-AS1not specifiedUncertain significance
(Jan 20, 2015)
criteria provided, single submitter
59.
GRCh37:
Chr2:179395926
GRCh38:
Chr2:178531199
TTN, TTN-AS1not specified, not providedGO-ESP:0.00005(A)Uncertain significance
(Dec 11, 2014)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr2:179395951
GRCh38:
Chr2:178531224
TTN, TTN-AS1not specifiedGO-ESP:0.00001(C)Uncertain significance
(Sep 28, 2015)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr2:179395958
GRCh38:
Chr2:178531231
TTN, TTN-AS1Distal myopathy Markesbery-Griggs type, Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy,
not specified, Hypertrophic cardiomyopathy, Cardiovascular phenotype,
Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.31944(C)
GMAF:0.49180(T)
GO-ESP:0.35180(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr2:179396082
GRCh38:
Chr2:178531355
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified
GO-ESP:0.00011(A)Uncertain significance
(Nov 19, 2015)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr2:179396114
GRCh38:
Chr2:178531387
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.00158(T)
GMAF:0.00140(T)
GO-ESP:0.00098(T)
Conflicting interpretations of pathogenicity
(Jan 24, 2017)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr2:179396130
GRCh38:
Chr2:178531403
TTN, TTN-AS1not specifiedGMAF:0.00100(C)
GO-ESP:0.00021(C)
Likely benign
(Jan 12, 2017)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr2:179396159
GRCh38:
Chr2:178531432
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.00108(T)
GMAF:0.00040(T)
GO-ESP:0.00042(T)
Conflicting interpretations of pathogenicity
(Dec 27, 2016)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr2:179396162
GRCh38:
Chr2:178531435
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.03334(G)
GMAF:0.02300(G)
GO-ESP:0.03781(G)
Benign/Likely benign
(Jan 22, 2017)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr2:179396206
GRCh38:
Chr2:178531479
TTN, TTN-AS1not specifiedGMAF:0.00020(T)
GO-ESP:0.00001(T)
Uncertain significance
(Nov 25, 2014)
criteria provided, single submitter
68.
GRCh37:
Chr2:179396215
GRCh38:
Chr2:178531488
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
not provided, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.00205(A)
GMAF:0.00120(A)
GO-ESP:0.00061(A)
Conflicting interpretations of pathogenicity, not provided
(Jun 14, 2016)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr2:179396278
GRCh38:
Chr2:178531551
TTN, TTN-AS1not specifiedGO-ESP:0.00001(T)Uncertain significance
(Mar 14, 2014)
criteria provided, single submitter
70.
GRCh37:
Chr2:179396347
GRCh38:
Chr2:178531620
TTN, TTN-AS1not specifiedLikely benign
(May 3, 2013)
criteria provided, single submitter
71.
GRCh37:
Chr2:179396349
GRCh38:
Chr2:178531622
TTN, TTN-AS1not specifiedUncertain significance
(Oct 4, 2012)
criteria provided, single submitter
72.
GRCh37:
Chr2:179396354
GRCh38:
Chr2:178531627
TTN, TTN-AS1Distal myopathy Markesbery-Griggs type, Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy,
not specified, Hypertrophic cardiomyopathy, Cardiovascular phenotype,
Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.14197(A)
GMAF:0.23180(A)
GO-ESP:0.18245(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr2:179396357
GRCh38:
Chr2:178531630
TTN, TTN-AS1not specifiedLikely benign
(May 10, 2012)
criteria provided, single submitter
74.
GRCh37:
Chr2:179396392
GRCh38:
Chr2:178531665
TTN, TTN-AS1not specifiedUncertain significance
(Apr 30, 2014)
criteria provided, single submitter
75.
GRCh37:
Chr2:179396428
GRCh38:
Chr2:178531701
TTN, TTN-AS1not specifiedGO-ESP:0.00001(T)Uncertain significance
(May 16, 2015)
criteria provided, single submitter
76.
GRCh37:
Chr2:179396568
GRCh38:
Chr2:178531841
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Primary familial hypertrophic cardiomyopathy,
not specified, not provided, Cardiovascular phenotype
GO-ESP:0.00234(G)Conflicting interpretations of pathogenicity, not provided
(Apr 16, 2016)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr2:179396573
GRCh38:
Chr2:178531846
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.00478(G)
GMAF:0.00380(G)
GO-ESP:0.01002(G)
Benign/Likely benign
(Dec 27, 2016)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr2:179396750
GRCh38:
Chr2:178532023
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified
GMAF:0.00120(T)
GO-ESP:0.00018(T)
Benign/Likely benign
(Aug 22, 2016)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr2:179396766
GRCh38:
Chr2:178532039
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.01061(T)
GMAF:0.00360(T)
GO-ESP:0.01295(T)
Benign/Likely benign
(Jan 19, 2017)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr2:179396782
GRCh38:
Chr2:178532055
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified,
not provided, Cardiovascular phenotype
GO-ESP:0.00623(G)
GMAF:0.00240(G)
GO-ESP:0.00497(G)
Conflicting interpretations of pathogenicity
(Jan 18, 2017)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr2:179396928
GRCh38:
Chr2:178532201
TTN, TTN-AS1not specifiedGMAF:0.00040(T)Uncertain significance
(Feb 10, 2012)
criteria provided, single submitter
82.
GRCh37:
Chr2:179396957
GRCh38:
Chr2:178532230
TTN, TTN-AS1not specifiedGO-ESP:0.00003(T)Likely benign
(Feb 23, 2012)
criteria provided, single submitter
83.
GRCh37:
Chr2:179396965
GRCh38:
Chr2:178532238
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.00872(G)
GMAF:0.00760(G)
GO-ESP:0.00241(G)
Benign/Likely benign
(Dec 30, 2016)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr2:179396977
GRCh38:
Chr2:178532250
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive
GMAF:0.00120(T)
GO-ESP:0.00051(T)
Conflicting interpretations of pathogenicity
(Dec 27, 2016)
criteria provided, conflicting interpretations
85.
GRCh37:
Chr2:179396978
GRCh38:
Chr2:178532251
TTN, TTN-AS1not specifiedGO-ESP:0.00008(A)
GMAF:0.00020(A)
GO-ESP:0.00015(A)
Conflicting interpretations of pathogenicity
(Mar 3, 2016)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr2:179397081
GRCh38:
Chr2:178532354
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified
GO-ESP:0.00002(A)Uncertain significance
(Dec 25, 2016)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr2:179397091
GRCh38:
Chr2:178532364
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified,
not provided, Cardiovascular phenotype
GMAF:0.00020(G)
GO-ESP:0.00122(G)
Conflicting interpretations of pathogenicity, not provided
(Sep 27, 2016)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr2:179397120
GRCh38:
Chr2:178532393
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified
Uncertain significance
(Jul 31, 2016)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr2:179397150
GRCh38:
Chr2:178532423
TTN, TTN-AS1not specifiedGO-ESP:0.00003(C)Uncertain significance
(Aug 21, 2012)
criteria provided, single submitter
90.
GRCh37:
Chr2:179397342
GRCh38:
Chr2:178532615
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified
GO-ESP:0.00008(G)Uncertain significance
(Jan 19, 2017)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr2:179397368
GRCh38:
Chr2:178532641
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.00149(A)
GMAF:0.00040(A)
GO-ESP:0.00121(A)
Conflicting interpretations of pathogenicity
(Nov 24, 2016)
criteria provided, conflicting interpretations
92.
GRCh37:
Chr2:179397396
GRCh38:
Chr2:178532669
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified
GO-ESP:0.00004(T)Uncertain significance
(Aug 6, 2016)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr2:179397429
GRCh38:
Chr2:178532702
TTN, TTN-AS1Distal myopathy Markesbery-Griggs type, Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy,
not specified, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GMAF:0.00020(T)
GO-ESP:0.00017(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr2:179397432
GRCh38:
Chr2:178532705
TTN, TTN-AS1not specifiedGO-ESP:0.00003(T)Uncertain significance
(Apr 12, 2013)
criteria provided, single submitter
95.
GRCh37:
Chr2:179397433
GRCh38:
Chr2:178532706
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified
GMAF:0.00020(A)
GO-ESP:0.00006(A)
Uncertain significance
(Apr 10, 2016)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr2:179397483
GRCh38:
Chr2:178532756
TTN, TTN-AS1not specifiedGO-ESP:0.00011(T)Uncertain significance
(Apr 16, 2015)
criteria provided, single submitter
97.
GRCh37:
Chr2:179397538
GRCh38:
Chr2:178532811
TTN, TTN-AS1not specifiedUncertain significance
(Aug 22, 2014)
criteria provided, single submitter
98.
GRCh37:
Chr2:179397561
GRCh38:
Chr2:178532834
TTN, TTN-AS1Distal myopathy Markesbery-Griggs type, Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy,
not specified, Hypertrophic cardiomyopathy, Cardiovascular phenotype,
Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.12144(T)
GMAF:0.20870(T)
GO-ESP:0.17535(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr2:179397612
GRCh38:
Chr2:178532885
TTN, TTN-AS1not specifiedGO-ESP:0.00001(C)Uncertain significance
(Mar 5, 2014)
criteria provided, single submitter
100.
GRCh37:
Chr2:179397654
GRCh38:
Chr2:178532927
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated Cardiomyopathy, Dominant,
Limb-Girdle Muscular Dystrophy, Recessive
GO-ESP:0.00056(G)
GO-ESP:0.00056(G)
Conflicting interpretations of pathogenicity
(Oct 15, 2016)
criteria provided, conflicting interpretations
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