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Items: 1 to 100 of 366

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr14:23891515
GRCh38:
Chr14:23422306
MYH7Q1040RMYH7-related skeletal myopathyLikely pathogenic
(Jun 2, 2022)		no assertion criteria provided
2.
GRCh37:
Chr14:23884461-23884478
GRCh38:
Chr14:23415252-23415269
LOC126861897, MYH7MYH7-related skeletal myopathyLikely pathogenic
(May 4, 2022)		criteria provided, single submitter
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
GRCh37:
Chr14:23885487
GRCh38:
Chr14:23416278
LOC126861897, MHRT, MYH7R1560Pnot providedLikely pathogenic
(Sep 2, 2022)		criteria provided, single submitter
14.
GRCh37:
Chr14:23899792
GRCh38:
Chr14:23430583
MYH7A326TCardiovascular phenotype, Cardiomyopathy, Myopathy, myosin storage, autosomal recessive,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion,
Dilated cardiomyopathy 1S, Myosin storage myopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Mar 1, 2023)		criteria provided, multiple submitters, no conflicts
15.
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
16.
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
17.
GRCh37:
Chr14:23903380
GRCh38:
Chr14:23434171
MYH7Myopathy, myosin storage, autosomal recessive, MYH7-related skeletal myopathy, Myosin storage myopathy,
not provided, Dilated cardiomyopathy 1S		Benign
(Sep 5, 2021)		criteria provided, multiple submitters, no conflicts
18.
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
19.
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
20.
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
21.
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
22.
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
23.
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
24.
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
25.
GRCh37:
Chr14:23899869
GRCh38:
Chr14:23430660
MYH7M300THypertrophic 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
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
26.
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
27.
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
28.
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
29.
GRCh37:
Chr14:23889069
GRCh38:
Chr14:23419860
MYH7Q1237HHypertrophic cardiomyopathyUncertain significance
(Jan 26, 2022)		criteria provided, single submitter
30.
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
31.
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
32.
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
33.
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
34.
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
35.
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
36.
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
37.
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
38.
GRCh37:
Chr14:23885272
GRCh38:
Chr14:23416063
LOC126861897, MHRT, MYH7A1632TCardiovascular phenotype, not provided, 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, See cases ...see more		Uncertain significance
(Aug 3, 2022)		criteria provided, multiple submitters, no conflicts
39.
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
40.
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
41.
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
42.
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
43.
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
44.
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
45.
GRCh37:
Chr14:23882078
GRCh38:
Chr14:23412869
MYH7MYH7-related skeletal myopathy, Myosin storage myopathy, Hypertrophic cardiomyopathy 1,
Dilated cardiomyopathy 1S		Uncertain significance
(Jun 13, 2017)		criteria provided, single submitter
46.
GRCh37:
Chr14:23892825
GRCh38:
Chr14:23423616
MYH7Cardiomyopathy, MYH7-related skeletal myopathy, Myosin storage myopathy,
Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1,
Dilated cardiomyopathy 1S		Conflicting interpretations of pathogenicity
(Feb 10, 2022)		criteria provided, conflicting interpretations
47.
GRCh37:
Chr14:23884908
GRCh38:
Chr14:23415699
LOC126861897, MHRT, MYH7E1696GMYH7-related skeletal myopathy, Myosin storage myopathy, Hypertrophic cardiomyopathy 1,
Dilated cardiomyopathy 1S		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
48.
GRCh37:
Chr14:23894240
GRCh38:
Chr14:23425031
LOC126861898, MYH7Cardiomyopathy, MYH7-related skeletal myopathy, Myosin storage myopathy,
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S
Conflicting interpretations of pathogenicity
(Dec 7, 2021)		criteria provided, conflicting interpretations
49.
GRCh37:
Chr14:23889222
GRCh38:
Chr14:23420013
MYH7MYH7-related skeletal myopathy, Myosin storage myopathy, Hypertrophic cardiomyopathy 1,
Dilated cardiomyopathy 1S		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
50.
GRCh37:
Chr14:23881982
GRCh38:
Chr14:23412773
MYH7Myosin storage myopathy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1,
Dilated cardiomyopathy 1S		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
51.
GRCh37:
Chr14:23885294
GRCh38:
Chr14:23416085
LOC126861897, MHRT, MYH7Myosin storage myopathy, MYH7-related skeletal myopathy, Cardiovascular phenotype,
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1		Conflicting interpretations of pathogenicity
(Oct 10, 2022)		criteria provided, conflicting interpretations
52.
GRCh37:
Chr14:23892874
GRCh38:
Chr14:23423665
MYH7K994RCardiomyopathy, MYH7-related skeletal myopathy, Myosin storage myopathy,
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1S
Uncertain significance
(Mar 23, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr14:23886486
GRCh38:
Chr14:23417277
MHRT, MYH7Cardiomyopathy, MYH7-related skeletal myopathy, Myosin storage myopathy,
Cardiovascular phenotype, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy,
Dilated cardiomyopathy 1S		Conflicting interpretations of pathogenicity
(Jun 14, 2023)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr14:23885207
GRCh38:
Chr14:23415998
LOC126861897, MHRT, MYH7MYH7-related skeletal myopathy, Myosin storage myopathy, Hypertrophic cardiomyopathy 1,
Dilated cardiomyopathy 1S		Uncertain significance
(Mar 2, 2018)		criteria provided, single submitter
55.
GRCh37:
Chr14:23900957
GRCh38:
Chr14:23431748
MYH7MYH7-related skeletal myopathy, Myosin storage myopathy, Hypertrophic cardiomyopathy 1,
Dilated cardiomyopathy 1S		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
56.
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
57.
GRCh37:
Chr14:23902292
GRCh38:
Chr14:23433083
MYH7Cardiomyopathy, Myopathy, myosin storage, autosomal recessive, MYH7-related skeletal myopathy,
Conduction disorder of the heart, Myosin storage myopathy, not provided,
Cardiovascular phenotype, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy,
Dilated cardiomyopathy 1S		Conflicting interpretations of pathogenicity
(Sep 9, 2022)		criteria provided, conflicting interpretations
58.
GRCh37:
Chr14:23891524
GRCh38:
Chr14:23422315
MYH7S1037YMYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S,
Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, Myosin storage myopathy, not provided,
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathyCardiovascular phenotype,
Dilated cardiomyopathy 1S, ...see more		Uncertain significance
(May 5, 2023)		criteria provided, multiple submitters, no conflicts
59.
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
60.
GRCh37:
Chr14:23886356
GRCh38:
Chr14:23417147
MHRT, MYH7Cardiomyopathy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1,
Myosin storage myopathy, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Feb 3, 2022)		criteria provided, conflicting interpretations
61.
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
62.
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
63.
GRCh37:
Chr14:23883033
GRCh38:
Chr14:23413824
MYH7R1909Wnot provided, Cardiomyopathy, Hypertrophic cardiomyopathy 1,
MYH7-related skeletal myopathy, Myosin storage myopathy, Dilated cardiomyopathy 1S,
Hypertrophic cardiomyopathy		Uncertain significance
(May 9, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr14:23886430
GRCh38:
Chr14:23417221
MHRT, MYH7L1484PMYH7-related skeletal myopathy, Hypertrophic cardiomyopathyUncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr14:23898203
GRCh38:
Chr14:23428994
MYH7Hypertrophic cardiomyopathy, Myosin storage myopathy, Hypertrophic cardiomyopathy 1,
not specified, Cardiomyopathy, MYH7-related skeletal myopathy
Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
66.
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
67.
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
68.
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
69.
GRCh37:
Chr14:23900204
GRCh38:
Chr14:23430995
MYH7not provided, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S,
Myosin storage myopathy, MYH7-related skeletal myopathy		Conflicting interpretations of pathogenicity
(Mar 22, 2018)		criteria provided, conflicting interpretations
70.
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
71.
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
72.
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
73.
GRCh37:
Chr14:23886523
GRCh38:
Chr14:23417314
MHRT, MYH7L1453PHypertrophic cardiomyopathyPathogenic
(Sep 7, 2022)		criteria provided, single submitter
74.
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
75.
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
76.
GRCh37:
Chr14:23893273
GRCh38:
Chr14:23424064
MYH7M922TMyosin storage myopathy, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy,
Cardiovascular phenotype, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy		Conflicting interpretations of pathogenicity
(Feb 23, 2022)		criteria provided, conflicting interpretations
77.
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
78.
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
79.
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
80.
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
81.
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
82.
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
83.
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
84.
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
85.
GRCh37:
Chr14:23883313
GRCh38:
Chr14:23414104
MYH7Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathyLikely pathogenic
(Sep 13, 2018)		criteria provided, single submitter
86.
GRCh37:
Chr14:23888756
GRCh38:
Chr14:23419547
MYH7Hypertrophic cardiomyopathy, Myosin storage myopathy, Cardiovascular phenotype,
Cardiomyopathy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
87.
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
88.
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
89.
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
90.
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
91.
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
92.
GRCh37:
Chr14:23886154
GRCh38:
Chr14:23416945
MHRT, MYH7I1523VHypertrophic 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		Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr14:23884929
GRCh38:
Chr14:23415720
LOC126861897, MHRT, MYH7R1689HCardiovascular phenotype, 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,
not provided		Uncertain significance
(Sep 22, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr14:23884199
GRCh38:
Chr14:23414990
MYH7not provided, Cardiomyopathy, 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,
Cardiovascular phenotype		Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr14:23883106
GRCh38:
Chr14:23413897
MYH7Cardiomyopathy, 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, not specified
Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr14:23889090
GRCh38:
Chr14:23419881
MYH7MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Cardiovascular phenotype,
Myosin storage myopathy, not specified, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Jun 4, 2023)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr14:23883111
GRCh38:
Chr14:23413902
MYH7Cardiomyopathy, not specified, Myopathy, myosin storage, autosomal recessive,
Dilated cardiomyopathy 1S, Myosin storage myopathy, Hypertrophic cardiomyopathy 1,
Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, not provided,
Hypertrophic cardiomyopathy		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr14:23896866
Chr14:23895007
GRCh38:
Chr14:23427657
Chr14:23425798
MYH7, MYH7V606MHypertrophic cardiomyopathy 1Pathogenic
(Jun 1, 2001)		no assertion criteria provided
99.
GRCh37:
Chr14:23884838
GRCh38:
Chr14:23415629
LOC126861897, MHRT, MYH7Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S,
Myosin storage myopathy, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy		Uncertain significance
(Dec 4, 2021)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr14:23888744
GRCh38:
Chr14:23419535
MYH7Q1267HCardiomyopathy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1,
Myosin storage myopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype,
not provided		Conflicting interpretations of pathogenicity
(Mar 31, 2023)		criteria provided, conflicting interpretations
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