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Items: 1 to 100 of 366

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:23884449
GRCh38:
Chr14:23415240
MYH7E1772KMyosin storage myopathy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1,
Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S
Uncertain significance
(May 25, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr14:23884731
GRCh38:
Chr14:23415522
LOC126861897, MHRT, MYH7Myosin storage myopathyLikely pathogenic
(May 2, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr14:23883215
GRCh38:
Chr14:23414006
MYH7Myosin storage myopathyLikely pathogenic
(May 2, 2023)
criteria provided, single submitter
4.
GRCh37:
Chr14:23883212
GRCh38:
Chr14:23414003
MYH7Myosin storage myopathyUncertain significance
(May 2, 2023)
criteria provided, single submitter
5.
GRCh37:
Chr14:23884698-23884700
GRCh38:
Chr14:23415489-23415491
LOC126861897, MHRT, MYH7N1725delMyosin storage myopathyUncertain significance
(Feb 2, 2023)
criteria provided, single submitter
6.
GRCh37:
Chr14:23884402
GRCh38:
Chr14:23415193
MYH7E1787DMyosin storage myopathyUncertain significance
(Aug 5, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr14:23885475
GRCh38:
Chr14:23416266
LOC126861897, MHRT, MYH7E1564AMyosin storage myopathyUncertain significance
(Feb 3, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr14:23885199
GRCh38:
Chr14:23415990
LOC126861897, MHRT, MYH7Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, Myosin storage myopathy,
Congenital myopathy with fiber type disproportion
Likely benign
(Sep 23, 2021)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr14:23886420
GRCh38:
Chr14:23417211
MHRT, MYH7Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion, Myosin storage myopathy,
Dilated cardiomyopathy 1S
Conflicting interpretations of pathogenicity
(Aug 31, 2022)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr14:23902370
GRCh38:
Chr14:23433161
MYH7M90VHypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion, Myosin storage myopathy,
Dilated cardiomyopathy 1S
Uncertain significance
(Aug 24, 2021)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr14:23894106
GRCh38:
Chr14:23424897
LOC126861898, MYH7S851THypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion, Myosin storage myopathy,
Dilated cardiomyopathy 1S
Uncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr14:23893195
GRCh38:
Chr14:23423986
MYH7S948LHypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion, Myosin storage myopathy,
Dilated cardiomyopathy 1S
Uncertain significance
(Feb 12, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr14:23892842
GRCh38:
Chr14:23423633
MYH7Q1005ECardiovascular phenotype, Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive,
Dilated cardiomyopathy 1S, Myosin storage myopathy, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion
Uncertain significance
(Jun 16, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr14:23883086
GRCh38:
Chr14:23413877
MYH7T1891IHypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S,
Myosin storage myopathy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1,
Congenital myopathy with fiber type disproportion
Uncertain significance
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr14:23902874
GRCh38:
Chr14:23433665
MYH7R23QHypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S,
Myosin storage myopathy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1,
Congenital myopathy with fiber type disproportion
Uncertain significance
(Nov 21, 2021)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr14:23896803
GRCh38:
Chr14:23427594
MYH7A627SHypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S,
Myosin storage myopathy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1,
Congenital myopathy with fiber type disproportion
Uncertain significance
(Nov 12, 2021)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr14:23884958
GRCh38:
Chr14:23415749
LOC126861897, MHRT, MYH7N1679KCardiovascular phenotype, Congenital myopathy with fiber type disproportion, Hypertrophic cardiomyopathy 1,
Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive, MYH7-related skeletal myopathy,
Myosin storage myopathy, not provided, Hypertrophic cardiomyopathy
Uncertain significance
(Mar 7, 2023)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr14:23894579
GRCh38:
Chr14:23425370
LOC126861898, MYH7E779KMyosin storage myopathy, Hypertrophic cardiomyopathyConflicting interpretations of pathogenicity
(Sep 13, 2022)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr14:23899792
GRCh38:
Chr14:23430583
MYH7A326TCardiovascular phenotype, Cardiomyopathy, Myopathy, myosin storage, autosomal recessive,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Myosin storage myopathy,
Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy
Uncertain significance
(Mar 1, 2023)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr14:23884293
GRCh38:
Chr14:23415084
MYH7N1824DMyopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Myosin storage myopathy, Dilated cardiomyopathy 1S,
See cases
Uncertain significance
(Dec 10, 2021)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr14:23886692
GRCh38:
Chr14:23417483
MHRT, MYH7Hypertrophic cardiomyopathy, not provided, Myopathy, myosin storage, autosomal recessive,
Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1,
Myosin storage myopathy, Dilated cardiomyopathy 1S
Benign/Likely benign
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr14:23903380
GRCh38:
Chr14:23434171
MYH7Dilated cardiomyopathy 1S, Myosin storage myopathy, not provided,
Myopathy, myosin storage, autosomal recessive, MYH7-related skeletal myopathy
Benign
(Sep 5, 2021)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr14:23898431
GRCh38:
Chr14:23429222
MYH7Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion,
Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1,
Myosin storage myopathy
Likely benign
(Sep 17, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr14:23884230
GRCh38:
Chr14:23415021
MYH7Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion,
Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1,
Myosin storage myopathy
Likely benign
(May 19, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr14:23889069
GRCh38:
Chr14:23419860
MYH7Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Myosin storage myopathy,
Hypertrophic cardiomyopathy
Likely benign
(Oct 1, 2021)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr14:23891397
GRCh38:
Chr14:23422188
MYH7Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Myosin storage myopathy,
Cardiovascular phenotype, Hypertrophic cardiomyopathy
Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr14:23891527
GRCh38:
Chr14:23422318
MYH7G1036Enot provided, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion,
Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy, Myosin storage myopathy,
Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 24, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr14:23896794
GRCh38:
Chr14:23427585
MYH7P630THypertrophic cardiomyopathyUncertain significance
(Oct 16, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr14:23892827
GRCh38:
Chr14:23423618
MYH7L1010FHypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy,
Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, Dilated cardiomyopathy 1S,
Cardiovascular phenotype, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 8, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr14:23902933
GRCh38:
Chr14:23433724
MYH7D3EHypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy,
Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, Dilated cardiomyopathy 1S,
Hypertrophic cardiomyopathy
Uncertain significance
(Mar 11, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr14:23899869
GRCh38:
Chr14:23430660
MYH7M300TDilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion,
Hypertrophic cardiomyopathy
Uncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr14:23902866
GRCh38:
Chr14:23433657
MYH7A26THypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy,
Dilated cardiomyopathy 1S
Uncertain significance
(Sep 23, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr14:23891387
GRCh38:
Chr14:23422178
MYH7not specified, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr14:23883215
GRCh38:
Chr14:23414006
MYH7Myosin storage myopathyLikely pathogenic
(May 2, 2023)
criteria provided, single submitter
35.
GRCh37:
Chr14:23885017
GRCh38:
Chr14:23415808
LOC126861897, MHRT, MYH7A1660PMyosin storage myopathyUncertain significance
(Feb 12, 2020)
criteria provided, single submitter
36.
GRCh37:
Chr14:23886778-23886780
GRCh38:
Chr14:23417569-23417571
MHRT, MYH7M1429delMyosin storage myopathyUncertain significance
(Jun 12, 2019)
criteria provided, single submitter
37.
GRCh37:
Chr14:23889059
GRCh38:
Chr14:23419850
MYH7A1241SCardiovascular phenotype, Cardiomyopathy, Myosin storage myopathy,
Hypertrophic cardiomyopathy
Uncertain significance
(Sep 20, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr14:23889191
GRCh38:
Chr14:23419982
MYH7A1197THypertrophic cardiomyopathy, MYH7-related skeletal myopathy, Congenital myopathy with fiber type disproportion,
Myosin storage myopathy, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1,
Myopathy, myosin storage, autosomal recessive
Uncertain significance
(Oct 21, 2021)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr14:23889069
GRCh38:
Chr14:23419860
MYH7Q1237HHypertrophic cardiomyopathyUncertain significance
(Jan 26, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr14:23885347
GRCh38:
Chr14:23416138
MHRT, LOC126861897, MYH7S1607GCardiomyopathy, MYH7-related skeletal myopathy, Congenital myopathy with fiber type disproportion,
Myosin storage myopathy, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1,
Myopathy, myosin storage, autosomal recessive
Uncertain significance
(Oct 17, 2021)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr14:23885209
GRCh38:
Chr14:23416000
LOC126861897, MHRT, MYH7Cardiomyopathy, MYH7-related skeletal myopathy, Congenital myopathy with fiber type disproportion,
Myosin storage myopathy, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1,
Myopathy, myosin storage, autosomal recessive
Uncertain significance
(Jul 26, 2021)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr14:23902818
GRCh38:
Chr14:23433609
MYH7D42NCardiomyopathy, MYH7-related skeletal myopathy, Congenital myopathy with fiber type disproportion,
Myosin storage myopathy, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1,
Myopathy, myosin storage, autosomal recessive
Uncertain significance
(Jul 5, 2021)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr14:23886080
GRCh38:
Chr14:23416871
MHRT, MYH7Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy,
Cardiomyopathy, MYH7-related skeletal myopathy, Congenital myopathy with fiber type disproportion,
Myosin storage myopathy, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1,
Myopathy, myosin storage, autosomal recessive
Benign/Likely benign
(Aug 3, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr14:23891434
GRCh38:
Chr14:23422225
MYH7M1067TCardiovascular phenotype, not provided, Cardiomyopathy,
MYH7-related skeletal myopathy, Congenital myopathy with fiber type disproportion, Myosin storage myopathy,
Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive
Uncertain significance
(Oct 11, 2021)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr14:23889443-23889445
GRCh38:
Chr14:23420234-23420236
MYH7Cardiovascular phenotype, Cardiomyopathy, MYH7-related skeletal myopathy,
Congenital myopathy with fiber type disproportion, Myosin storage myopathy, Dilated cardiomyopathy 1S,
Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive
Uncertain significance
(Dec 5, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr14:23883087
GRCh38:
Chr14:23413878
MYH7T1891ACardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy,
MYH7-related skeletal myopathy, Congenital myopathy with fiber type disproportion, Myosin storage myopathy,
Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive,
not provided
Uncertain significance
(May 18, 2023)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr14:23890209
GRCh38:
Chr14:23421000
MYH7Q1098HCardiomyopathy, MYH7-related skeletal myopathy, Congenital myopathy with fiber type disproportion,
Myosin storage myopathy, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1,
Myopathy, myosin storage, autosomal recessive
Uncertain significance
(Nov 5, 2021)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr14:23885272
GRCh38:
Chr14:23416063
LOC126861897, MHRT, MYH7A1632TMyopathy, myosin storage, autosomal recessive, Hypertrophic cardiomyopathy 1, Myosin storage myopathy,
Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy,
not provided, Hypertrophic cardiomyopathy, See cases,
Cardiovascular phenotype, Cardiomyopathy ...see more
Uncertain significance
(Aug 3, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr14:23893219
GRCh38:
Chr14:23424010
MYH7K940MCardiomyopathy, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S,
Myosin storage myopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive,
MYH7-related skeletal myopathy
Uncertain significance
(Sep 6, 2021)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr14:23900965
GRCh38:
Chr14:23431756
MYH7Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S, Myosin storage myopathy,
Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, MYH7-related skeletal myopathy,
Cardiomyopathy
Uncertain significance
(Aug 13, 2021)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr14:23886814
GRCh38:
Chr14:23417605
MYH7Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S, Myosin storage myopathy,
Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
Likely benign
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr14:23891536
GRCh38:
Chr14:23422327
MYH7not specified, not provided, Congenital myopathy with fiber type disproportion,
Dilated cardiomyopathy 1S, Myosin storage myopathy, Hypertrophic cardiomyopathy 1,
Myopathy, myosin storage, autosomal recessive, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy,
Cardiomyopathy, Cardiovascular phenotype ...see more
Uncertain significance
(Feb 15, 2023)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr14:23893980
GRCh38:
Chr14:23424771
LOC126861898, MYH7A893Tnot provided, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S,
Myosin storage myopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
Uncertain significance
(Sep 13, 2021)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr14:23883284
GRCh38:
Chr14:23414075
MYH7R1863Wnot provided, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S,
Myosin storage myopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
Uncertain significance
(Mar 23, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr14:23882078
GRCh38:
Chr14:23412869
MYH7Myosin storage myopathy, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy,
Dilated cardiomyopathy 1S
Uncertain significance
(Jun 13, 2017)
criteria provided, single submitter
56.
GRCh37:
Chr14:23892825
GRCh38:
Chr14:23423616
MYH7Myosin storage myopathy, Cardiovascular phenotype, Cardiomyopathy,
Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy,
Dilated cardiomyopathy 1S
Conflicting interpretations of pathogenicity
(Feb 10, 2022)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr14:23884908
GRCh38:
Chr14:23415699
LOC126861897, MHRT, MYH7E1696GMyosin storage myopathy, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy,
Dilated cardiomyopathy 1S
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr14:23894240
GRCh38:
Chr14:23425031
LOC126861898, MYH7Myosin storage myopathy, Cardiomyopathy, Hypertrophic cardiomyopathy 1,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1S
Conflicting interpretations of pathogenicity
(Dec 7, 2021)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr14:23889222
GRCh38:
Chr14:23420013
MYH7Myosin storage myopathy, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy,
Dilated cardiomyopathy 1S
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr14:23881982
GRCh38:
Chr14:23412773
MYH7Myosin storage myopathy, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy,
Dilated cardiomyopathy 1S
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr14:23885294
GRCh38:
Chr14:23416085
LOC126861897, MHRT, MYH7Myosin storage myopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 1,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 10, 2022)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr14:23892874
GRCh38:
Chr14:23423665
MYH7K994RMyosin storage myopathy, Cardiomyopathy, Hypertrophic cardiomyopathy 1,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1S
Uncertain significance
(Mar 23, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr14:23886486
GRCh38:
Chr14:23417277
MHRT, MYH7Myosin storage myopathy, Cardiovascular phenotype, Cardiomyopathy,
Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy,
Dilated cardiomyopathy 1S
Conflicting interpretations of pathogenicity
(Jun 14, 2023)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr14:23885207
GRCh38:
Chr14:23415998
LOC126861897, MHRT, MYH7Myosin storage myopathy, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy,
Dilated cardiomyopathy 1S
Uncertain significance
(Mar 2, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr14:23900957
GRCh38:
Chr14:23431748
MYH7Myosin storage myopathy, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy,
Dilated cardiomyopathy 1S
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr14:23891497
GRCh38:
Chr14:23422288
MYH7M1046RDilated cardiomyopathy 1S, Congenital myopathy with fiber type disproportion, Hypertrophic cardiomyopathy 1,
Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy
Uncertain significance
(Feb 23, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr14:23902292
GRCh38:
Chr14:23433083
MYH7Myosin storage myopathy, not provided, Cardiovascular phenotype,
Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy,
Cardiomyopathy, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy,
Conduction disorder of the heart
Conflicting interpretations of pathogenicity
(Sep 9, 2022)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr14:23891524
GRCh38:
Chr14:23422315
MYH7S1037YMyosin storage myopathy, Cardiovascular phenotype, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy,
Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S, not provided,
Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathyHypertrophic cardiomyopathy 1,
MYH7-related skeletal myopathy, ...see more
Uncertain significance
(May 5, 2023)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr14:23895198
GRCh38:
Chr14:23425989
MYH7I713VDilated cardiomyopathy 1S, Congenital myopathy with fiber type disproportion, Hypertrophic cardiomyopathy 1,
Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, MYH7-related skeletal myopathy,
Cardiovascular phenotype, Hypertrophic cardiomyopathy
Uncertain significance
(May 12, 2023)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr14:23886356
GRCh38:
Chr14:23417147
MHRT, MYH7Myosin storage myopathy, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy,
Cardiomyopathy, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy
Conflicting interpretations of pathogenicity
(Feb 3, 2022)
criteria provided, conflicting interpretations
71.
GRCh37:
Chr14:23889323
GRCh38:
Chr14:23420114
MYH7A1153TDilated cardiomyopathy 1S, Congenital myopathy with fiber type disproportion, Hypertrophic cardiomyopathy 1,
Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, MYH7-related skeletal myopathy,
Cardiovascular phenotype, Hypertrophic cardiomyopathy
Uncertain significance
(Sep 25, 2021)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr14:23886078
GRCh38:
Chr14:23416869
MHRT, MYH7E1548VDilated cardiomyopathy 1S, Congenital myopathy with fiber type disproportion, Hypertrophic cardiomyopathy 1,
Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, MYH7-related skeletal myopathy,
Cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Sep 17, 2021)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr14:23883033
GRCh38:
Chr14:23413824
MYH7R1909WMyosin storage myopathy, Cardiomyopathy, Dilated cardiomyopathy 1S,
not provided, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy
Uncertain significance
(May 9, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr14:23898203
GRCh38:
Chr14:23428994
MYH7Myosin storage myopathy, not specified, Hypertrophic cardiomyopathy 1,
MYH7-related skeletal myopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
75.
GRCh37:
Chr14:23888416
GRCh38:
Chr14:23419207
MYH7Cardiovascular phenotype, not provided, Cardiomyopathy,
Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, Myosin storage myopathy,
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy
Benign/Likely benign
(Jun 13, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr14:23888492
GRCh38:
Chr14:23419283
MYH7R1289QCardiovascular phenotype, not provided, Myopathy, myosin storage, autosomal recessive,
Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1,
Dilated cardiomyopathy 1S, Myosin storage myopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Mar 1, 2023)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr14:23899832
GRCh38:
Chr14:23430623
MYH7F312LMyopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S,
Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy, Myosin storage myopathy,
Primary familial dilated cardiomyopathy, not provided, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 3, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr14:23900204
GRCh38:
Chr14:23430995
MYH7not provided, Myosin storage myopathy, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S
Conflicting interpretations of pathogenicity
(Mar 22, 2018)
criteria provided, conflicting interpretations
79.
GRCh37:
Chr14:23885410
GRCh38:
Chr14:23416201
LOC126861897, MHRT, MYH7A1586TMYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, Dilated cardiomyopathy 1S, Congenital myopathy with fiber type disproportion,
Conduction disorder of the heart, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 23, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr14:23891405
GRCh38:
Chr14:23422196
MYH7D1077YMYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, Dilated cardiomyopathy 1S, Congenital myopathy with fiber type disproportion,
Hypertrophic cardiomyopathy
Uncertain significance
(May 5, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr14:23886441
GRCh38:
Chr14:23417232
MHRT, MYH7E1480DCardiovascular phenotype, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1,
Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Dilated cardiomyopathy 1S,
Congenital myopathy with fiber type disproportion, Hypertrophic cardiomyopathy
Uncertain significance
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr14:23884292-23884293
GRCh38:
Chr14:23415083-23415084
MYH7N1824GCardiovascular phenotype, not provided, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy,
Dilated cardiomyopathy 1S, Congenital myopathy with fiber type disproportion, Cardiomyopathy,
Hypertrophic cardiomyopathy
Uncertain significance
(Sep 26, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr14:23887491
GRCh38:
Chr14:23418282
MYH7S1366LHypertrophic cardiomyopathy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1,
Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Dilated cardiomyopathy 1S,
Congenital myopathy with fiber type disproportion, Cardiovascular phenotype, Cardiomyopathy
Uncertain significance
(Jul 5, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr14:23893273
GRCh38:
Chr14:23424064
MYH7M922TCardiovascular phenotype, Myosin storage myopathy, Hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy, not provided,
Cardiomyopathy
Conflicting interpretations of pathogenicity
(Feb 23, 2022)
criteria provided, conflicting interpretations
85.
GRCh37:
Chr14:23893307
GRCh38:
Chr14:23424098
MYH7N911YHypertrophic cardiomyopathy 1, Myosin storage myopathy, MYH7-related skeletal myopathy,
Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion,
Cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(May 28, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr14:23884377
GRCh38:
Chr14:23415168
MYH7R1796WHypertrophic cardiomyopathy 1, Myosin storage myopathy, MYH7-related skeletal myopathy,
Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion,
not provided, Cardiomyopathy, Hypertrophic cardiomyopathy,
Cardiovascular phenotype
Uncertain significance
(Aug 30, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr14:23901068
GRCh38:
Chr14:23431859
MYH7G181RMyosin storage myopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy,
Left ventricular noncompaction cardiomyopathy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy,
Myopathy, myosin storage, autosomal recessive, Cardiomyopathy, Hypertrophic cardiomyopathy 1,
Dilated cardiomyopathy 1S
Conflicting interpretations of pathogenicity
(Mar 1, 2023)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr14:23885391
GRCh38:
Chr14:23416182
LOC126861897, MHRT, MYH7R1592QMYH7-related skeletal myopathy, Congenital myopathy with fiber type disproportion, Hypertrophic cardiomyopathy 1,
Myosin storage myopathy, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S,
Hypertrophic cardiomyopathy, Cardiomyopathy
Uncertain significance
(Apr 17, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr14:23895282
GRCh38:
Chr14:23426073
MYH7D685fsMyopathy, myosin storage, autosomal recessive, Myosin storage myopathy, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S,
Cardiomyopathy, not provided, Hypertrophic cardiomyopathy
Uncertain significance
(May 22, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr14:23883021
GRCh38:
Chr14:23413812
MYH7A1913TMyopathy, myosin storage, autosomal recessive, Myosin storage myopathy, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S,
not provided, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Uncertain significance
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr14:23899783
GRCh38:
Chr14:23430574
MYH7L329FMyopathy, myosin storage, autosomal recessive, Myosin storage myopathy, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S,
Hypertrophic cardiomyopathy
Uncertain significance
(Nov 26, 2021)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr14:23884305
GRCh38:
Chr14:23415096
MYH7R1820GMyopathy, myosin storage, autosomal recessive, Myosin storage myopathy, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S,
Hypertrophic cardiomyopathy
Uncertain significance
(Oct 10, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr14:23894101
GRCh38:
Chr14:23424892
LOC126861898, MYH7M852IMyopathy, myosin storage, autosomal recessive, Myosin storage myopathy, MYH7-related skeletal myopathy,
Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion,
not provided, Cardiomyopathy, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Feb 28, 2023)
criteria provided, conflicting interpretations
94.
GRCh37:
Chr14:23888756
GRCh38:
Chr14:23419547
MYH7Cardiovascular phenotype, Cardiomyopathy, Myosin storage myopathy,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr14:23897787-23897789
GRCh38:
Chr14:23428578-23428580
MYH7E500delHypertrophic cardiomyopathyUncertain significance
(Jun 3, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr14:23894075
GRCh38:
Chr14:23424866
LOC126861898, MYH7E861GHypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy,
Dilated cardiomyopathy 1S, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Cardiomyopathy
Uncertain significance
(Nov 1, 2021)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr14:23888766
GRCh38:
Chr14:23419557
MYH7R1260Qnot provided, Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, Dilated cardiomyopathy 1S, Congenital myopathy with fiber type disproportion,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Cardiomyopathy,
Cardiovascular phenotype
Uncertain significance
(Jun 4, 2023)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr14:23896910
GRCh38:
Chr14:23427701
MYH7I591THypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy,
Dilated cardiomyopathy 1S, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, not provided, Cardiomyopathy
Uncertain significance
(Sep 28, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr14:23894966
GRCh38:
Chr14:23425757
MYH7A742THypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy,
Dilated cardiomyopathy 1S, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, not provided, Cardiomyopathy
Uncertain significance
(Mar 23, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr14:23887546
GRCh38:
Chr14:23418337
MYH7E1348Knot provided, Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, Dilated cardiomyopathy 1S, Congenital myopathy with fiber type disproportion,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Cardiomyopathy
Uncertain significance
(Sep 12, 2022)
criteria provided, multiple submitters, no conflicts
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