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Items: 30

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:179641717
GRCh38:
Chr2:178776990
TTN, LOC101927055not specifiedUncertain significance
(Oct 21, 2013)
criteria provided, single submitter
2.
GRCh37:
Chr2:179641951
GRCh38:
Chr2:178777224
TTN, LOC101927055Dilated 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
Conflicting interpretations of pathogenicity
(Jan 12, 2017)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr2:179641975
GRCh38:
Chr2:178777248
TTN, LOC101927055Distal 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
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr2:179641981
GRCh38:
Chr2:178777254
TTN, LOC101927055not specifiedUncertain significance
(Feb 23, 2012)
criteria provided, single submitter
5.
GRCh37:
Chr2:179642019
GRCh38:
Chr2:178777292
TTN, LOC101927055Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified,
not provided
Likely benign
(Sep 14, 2016)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr2:179642139
GRCh38:
Chr2:178777412
TTN, LOC101927055not specifiedLikely benign
(Jul 9, 2015)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr2:179642162
GRCh38:
Chr2:178777435
TTN, LOC101927055Dilated 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
Benign/Likely benign
(Jan 10, 2017)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr2:179642425
GRCh38:
Chr2:178777698
TTN, LOC101927055Distal 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
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr2:179642459
GRCh38:
Chr2:178777732
TTN, LOC101927055not specifiedLikely benign
(Jul 25, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr2:179642515
GRCh38:
Chr2:178777788
TTN, LOC101927055Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified,
not provided
Conflicting interpretations of pathogenicity
(Dec 13, 2016)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr2:179642552
GRCh38:
Chr2:178777825
TTN, LOC101927055not specified, not provided, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Dec 2, 2015)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr2:179642564
GRCh38:
Chr2:178777837
TTN, LOC101927055Dilated 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
Benign/Likely benign
(Jan 18, 2017)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr2:179642583
GRCh38:
Chr2:178777856
TTN, LOC101927055Dilated 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
Benign/Likely benign
(Jan 21, 2017)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr2:179642589
GRCh38:
Chr2:178777862
TTN, LOC101927055Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified,
Cardiovascular phenotype
Benign/Likely benign
(Jan 19, 2017)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr2:179642613-179642642
GRCh38:
Chr2:178777886-178777915
TTN, LOC101927055not specifiedUncertain significance
(Jun 27, 2013)
criteria provided, single submitter
16.
GRCh37:
Chr2:179642649
GRCh38:
Chr2:178777922
TTN, LOC101927055not specifiedUncertain significance
(Sep 24, 2015)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr2:179642650
GRCh38:
Chr2:178777923
TTN, LOC101927055not specifiedUncertain significance
(Apr 29, 2014)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr2:179642665
GRCh38:
Chr2:178777938
TTN, LOC101927055Dilated 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
Benign/Likely benign
(Jan 19, 2017)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr2:179643610
GRCh38:
Chr2:178778883
TTN, LOC101927055Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified,
not provided
Benign/Likely benign
(May 23, 2016)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr2:179643632
GRCh38:
Chr2:178778905
TTN, LOC101927055Dilated 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
Benign/Likely benign
(Jan 24, 2017)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr2:179643656
GRCh38:
Chr2:178778929
TTN, LOC101927055Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified,
not provided
Uncertain significance
(Jan 19, 2017)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr2:179643728
GRCh38:
Chr2:178779001
TTN, LOC101927055not specifiedUncertain significance
(Apr 8, 2015)
criteria provided, single submitter
23.
GRCh37:
Chr2:179643767
GRCh38:
Chr2:178779040
TTN, LOC101927055not specifiedUncertain significance
(Dec 2, 2011)
criteria provided, single submitter
24.
GRCh37:
Chr2:179643775
GRCh38:
Chr2:178779048
TTN, LOC101927055Dilated 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
Benign/Likely benign
(Dec 27, 2016)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr2:179643782
GRCh38:
Chr2:178779055
TTN, LOC101927055Primary dilated cardiomyopathyLikely pathogenic
(Jun 5, 2013)
criteria provided, single submitter
26.
GRCh37:
Chr2:179643816
GRCh38:
Chr2:178779089
TTN, LOC101927055Dilated 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
Benign/Likely benign
(Jan 18, 2017)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr2:179643820
GRCh38:
Chr2:178779093
TTN, LOC101927055not specifiedUncertain significance
(Apr 1, 2015)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr2:179644006
GRCh38:
Chr2:178779279
TTN, LOC101927055not specifiedUncertain significance
(Nov 11, 2013)
criteria provided, single submitter
29.
GRCh37:
Chr2:179644035
GRCh38:
Chr2:178779308
TTN, LOC101927055Distal 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
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr2:179644160
GRCh38:
Chr2:178779433
TTN, LOC101927055Distal 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
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
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