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Items: 1 to 100 of 375

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:23885485
GRCh38:
Chr14:23416276
LOC126861897, MHRT, MYH7A1561SDilated cardiomyopathy 1SUncertain significance
(Aug 10, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr14:23896032
GRCh38:
Chr14:23426823
MYH7H666QDilated cardiomyopathy 1SLikely pathogenic
(Jul 1, 2022)
no assertion criteria provided
3.
GRCh37:
Chr14:23895249
GRCh38:
Chr14:23426040
MYH7N696HDilated cardiomyopathy 1SLikely pathogenic
(Mar 1, 2022)
no assertion criteria provided
4.
GRCh37:
Chr14:23889090
GRCh38:
Chr14:23419881
MYH7D1230EDilated cardiomyopathy 1SUncertain significance
(Jan 13, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr14:23900888
GRCh38:
Chr14:23431679
MYH7Dilated cardiomyopathy 1SLikely pathogenic
(Mar 29, 2022)
no assertion criteria provided
6.
GRCh37:
Chr14:23899101
GRCh38:
Chr14:23429892
MYH7F341IDilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Mar 17, 2022)
criteria provided, conflicting interpretations
7.
GRCh37:
Chr14:23885199
GRCh38:
Chr14:23415990
LOC126861897, MHRT, MYH7Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S,
Myosin storage myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion
Likely benign
(Sep 23, 2021)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr14:23886420
GRCh38:
Chr14:23417211
MHRT, MYH7Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, MYH7-related late-onset scapuloperoneal muscular dystrophy,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion,
Dilated cardiomyopathy 1S, Myosin storage myopathy
Conflicting interpretations of pathogenicity
(Aug 31, 2022)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr14:23902370
GRCh38:
Chr14:23433161
MYH7M90VHypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, MYH7-related late-onset scapuloperoneal muscular dystrophy,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion,
Dilated cardiomyopathy 1S, Myosin storage myopathy
Uncertain significance
(Aug 24, 2021)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr14:23894106
GRCh38:
Chr14:23424897
LOC126861898, MYH7S851THypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, MYH7-related late-onset scapuloperoneal muscular dystrophy,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion,
Dilated cardiomyopathy 1S, Myosin storage myopathy
Uncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr14:23893195
GRCh38:
Chr14:23423986
MYH7S948LHypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, MYH7-related late-onset scapuloperoneal muscular dystrophy,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion,
Dilated cardiomyopathy 1S, Myosin storage myopathy
Uncertain significance
(Feb 12, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr14:23892842
GRCh38:
Chr14:23423633
MYH7Q1005ECardiovascular phenotype, Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive,
MYH7-related late-onset scapuloperoneal muscular dystrophy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1,
Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S, Myosin storage myopathy
Uncertain significance
(Jun 16, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr14:23883086
GRCh38:
Chr14:23413877
MYH7T1891IHypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion,
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Myosin storage myopathy, MYH7-related skeletal myopathy
Uncertain significance
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr14:23902874
GRCh38:
Chr14:23433665
MYH7R23QHypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion,
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Myosin storage myopathy, MYH7-related skeletal myopathy
Uncertain significance
(Nov 21, 2021)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr14:23896803
GRCh38:
Chr14:23427594
MYH7A627SHypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion,
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Myosin storage myopathy, MYH7-related skeletal myopathy
Uncertain significance
(Nov 12, 2021)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr14:23884958
GRCh38:
Chr14:23415749
LOC126861897, MHRT, MYH7N1679KHypertrophic cardiomyopathy, Cardiovascular phenotype, Myopathy, myosin storage, autosomal recessive,
Congenital myopathy with fiber type disproportion, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Myosin storage myopathy, MYH7-related skeletal myopathy
Uncertain significance
(Aug 3, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr14:23899792
GRCh38:
Chr14:23430583
MYH7A326THypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Dilated cardiomyopathy 1S, Cardiovascular phenotype, Cardiomyopathy,
Hypertrophic cardiomyopathy
Uncertain significance
(Mar 1, 2023)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr14:23884589
GRCh38:
Chr14:23415380
LOC126861897, MYH7Dilated cardiomyopathy 1SUncertain significance
(Oct 6, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr14:23901704
GRCh38:
Chr14:23432495
MYH7Q172EDilated cardiomyopathy 1SLikely pathogenic
(Oct 1, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr14:23901038
GRCh38:
Chr14:23431829
MYH7V191IDilated cardiomyopathy 1SUncertain significance
(Oct 21, 2020)
criteria provided, single submitter
21.
GRCh37:
Chr14:23884293
GRCh38:
Chr14:23415084
MYH7N1824DHypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Myosin storage myopathy, Myopathy, myosin storage, autosomal recessive,
Congenital myopathy with fiber type disproportion, See cases
Uncertain significance
(Dec 10, 2021)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr14:23886692
GRCh38:
Chr14:23417483
MHRT, MYH7Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Myosin storage myopathy, Myopathy, myosin storage, autosomal recessive,
Congenital myopathy with fiber type disproportion, not provided, Hypertrophic cardiomyopathy
Benign/Likely benign
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr14:23903380
GRCh38:
Chr14:23434171
MYH7not provided, Myopathy, myosin storage, autosomal recessive, MYH7-related skeletal myopathy,
Dilated cardiomyopathy 1S, Myosin storage myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy
Benign
(Sep 5, 2021)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr14:23898431
GRCh38:
Chr14:23429222
MYH7Hypertrophic cardiomyopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S,
Congenital myopathy with fiber type disproportion, Myosin storage myopathy
Likely benign
(Sep 17, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr14:23884230
GRCh38:
Chr14:23415021
MYH7Hypertrophic cardiomyopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S,
Congenital myopathy with fiber type disproportion, Myosin storage myopathy
Likely benign
(May 19, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr14:23889069
GRCh38:
Chr14:23419860
MYH7Hypertrophic cardiomyopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S,
Congenital myopathy with fiber type disproportion, Myosin storage myopathy
Likely benign
(Oct 1, 2021)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr14:23891397
GRCh38:
Chr14:23422188
MYH7Hypertrophic cardiomyopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S,
Congenital myopathy with fiber type disproportion, Myosin storage myopathy, Cardiovascular phenotype
Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr14:23891527
GRCh38:
Chr14:23422318
MYH7G1036EHypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S,
Congenital myopathy with fiber type disproportion, MYH7-related late-onset scapuloperoneal muscular dystrophy, Myosin storage myopathy,
MYH7-related skeletal myopathy, not provided, Hypertrophic cardiomyopathy
Uncertain significance
(Jun 24, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr14:23892904
GRCh38:
Chr14:23423695
MYH7G984VDilated cardiomyopathy 1SUncertain significance
(Sep 6, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr14:23886520
GRCh38:
Chr14:23417311
MHRT, MYH7A1454DDilated cardiomyopathy 1SUncertain significance
(Jun 8, 2020)
criteria provided, single submitter
31.
GRCh37:
Chr14:23888698
GRCh38:
Chr14:23419489
MYH7E1283KHypertrophic cardiomyopathy, Dilated cardiomyopathy 1SUncertain significance
(Aug 24, 2021)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr14:23885343
GRCh38:
Chr14:23416134
LOC126861897, MHRT, MYH7R1608HCardiovascular phenotype, not provided, Hypertrophic cardiomyopathy
Uncertain significance
(Jan 20, 2023)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr14:23892827
GRCh38:
Chr14:23423618
MYH7L1010FHypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S,
Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Uncertain significance
(Jun 8, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr14:23902933
GRCh38:
Chr14:23433724
MYH7D3EHypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S,
Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy
Uncertain significance
(Mar 11, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr14:23899869
GRCh38:
Chr14:23430660
MYH7M300THypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S,
Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy
Uncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr14:23902866
GRCh38:
Chr14:23433657
MYH7A26THypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S,
Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy
Uncertain significance
(Sep 23, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr14:23891387
GRCh38:
Chr14:23422178
MYH7Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S,
Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy,
MYH7-related late-onset scapuloperoneal muscular dystrophy, not specified, Hypertrophic cardiomyopathy
Uncertain significance
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr14:23897068
GRCh38:
Chr14:23427859
MYH7C538*Dilated cardiomyopathy 1SUncertain significance
(Jan 1, 2019)
criteria provided, single submitter
39.
GRCh37:
Chr14:23897728
GRCh38:
Chr14:23428519
MYH7C520FDilated cardiomyopathy 1SLikely pathogenic
(Oct 29, 2019)
criteria provided, single submitter
40.
GRCh37:
Chr14:23889191
GRCh38:
Chr14:23419982
MYH7A1197THypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S
Uncertain significance
(Oct 21, 2021)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr14:23889069
GRCh38:
Chr14:23419860
MYH7Q1237HHypertrophic cardiomyopathyUncertain significance
(Jan 26, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr14:23885347
GRCh38:
Chr14:23416138
MHRT, LOC126861897, MYH7S1607GHypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy,
Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Dilated cardiomyopathy 1S, Cardiomyopathy
Uncertain significance
(Oct 17, 2021)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr14:23885209
GRCh38:
Chr14:23416000
LOC126861897, MHRT, MYH7Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy,
Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Dilated cardiomyopathy 1S, Cardiomyopathy
Uncertain significance
(Jul 26, 2021)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr14:23902818
GRCh38:
Chr14:23433609
MYH7D42NHypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy,
Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Dilated cardiomyopathy 1S, Cardiomyopathy
Uncertain significance
(Jul 5, 2021)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr14:23886080
GRCh38:
Chr14:23416871
MHRT, MYH7Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, not provided,
Cardiomyopathy, Cardiovascular phenotype ...see more
Benign/Likely benign
(Aug 3, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr14:23891434
GRCh38:
Chr14:23422225
MYH7M1067THypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy,
Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Dilated cardiomyopathy 1S, not provided, Cardiovascular phenotype,
Cardiomyopathy
Uncertain significance
(Oct 11, 2021)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr14:23889443-23889445
GRCh38:
Chr14:23420234-23420236
MYH7Cardiomyopathy, Myopathy, myosin storage, autosomal recessive, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Myosin storage myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Dilated cardiomyopathy 1S, Congenital myopathy with fiber type disproportion, Cardiovascular phenotype
Uncertain significance
(Dec 5, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr14:23883087
GRCh38:
Chr14:23413878
MYH7T1891AHypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, not provided,
Cardiomyopathy
Uncertain significance
(Mar 24, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr14:23890209
GRCh38:
Chr14:23421000
MYH7Q1098HHypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy,
Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Dilated cardiomyopathy 1S, Cardiomyopathy
Uncertain significance
(Nov 5, 2021)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr14:23885272
GRCh38:
Chr14:23416063
LOC126861897, MHRT, MYH7A1632TCardiomyopathy, Hypertrophic cardiomyopathy, See cases,
Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy,
Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Dilated cardiomyopathy 1S, Cardiovascular phenotypenot provided,
...see more
Uncertain significance
(Aug 3, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr14:23893219
GRCh38:
Chr14:23424010
MYH7K940MHypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy,
Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Dilated cardiomyopathy 1S, Cardiomyopathy
Uncertain significance
(Sep 6, 2021)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr14:23900965
GRCh38:
Chr14:23431756
MYH7Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy,
Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Dilated cardiomyopathy 1S, Cardiomyopathy
Uncertain significance
(Aug 13, 2021)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr14:23886814
GRCh38:
Chr14:23417605
MYH7Cardiomyopathy, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1,
Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion,
MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S,
Cardiovascular phenotype
Likely benign
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr14:23891536
GRCh38:
Chr14:23422327
MYH7Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, not specified,
not provided, CardiomyopathyCardiovascular phenotype,
...see more
Uncertain significance
(Feb 15, 2023)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr14:23893980
GRCh38:
Chr14:23424771
LOC126861898, MYH7A893THypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, not provided,
Cardiomyopathy
Uncertain significance
(Sep 13, 2021)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr14:23883284
GRCh38:
Chr14:23414075
MYH7R1863WHypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, not provided,
Cardiomyopathy
Uncertain significance
(Mar 23, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr14:23882078
GRCh38:
Chr14:23412869
MYH7Myosin storage myopathy, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1
Uncertain significance
(Jun 13, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr14:23892825
GRCh38:
Chr14:23423616
MYH7Cardiomyopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1S,
Myosin storage myopathy, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Feb 10, 2022)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr14:23884908
GRCh38:
Chr14:23415699
LOC126861897, MHRT, MYH7E1696GMyosin storage myopathy, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1,
MYH7-related skeletal myopathy
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr14:23894240
GRCh38:
Chr14:23425031
LOC126861898, MYH7Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy, Cardiomyopathy,
Dilated cardiomyopathy 1S, Myosin storage myopathy, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Dec 7, 2021)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr14:23889222
GRCh38:
Chr14:23420013
MYH7Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy, Myosin storage myopathy,
Dilated cardiomyopathy 1S
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr14:23881982
GRCh38:
Chr14:23412773
MYH7Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy, Myosin storage myopathy,
Dilated cardiomyopathy 1S
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr14:23892874
GRCh38:
Chr14:23423665
MYH7K994RCardiomyopathy, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy,
Dilated cardiomyopathy 1S, Myosin storage myopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Mar 23, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr14:23886486
GRCh38:
Chr14:23417277
MHRT, MYH7MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Cardiomyopathy,
Myosin storage myopathy, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Sep 16, 2022)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr14:23885207
GRCh38:
Chr14:23415998
LOC126861897, MHRT, MYH7MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Myosin storage myopathy,
Dilated cardiomyopathy 1S
Uncertain significance
(Mar 2, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr14:23900957
GRCh38:
Chr14:23431748
MYH7MYH7-related skeletal myopathy, Myosin storage myopathy, Dilated cardiomyopathy 1S,
Hypertrophic cardiomyopathy 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr14:23891497
GRCh38:
Chr14:23422288
MYH7M1046RHypertrophic cardiomyopathy, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy,
Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy,
Congenital myopathy with fiber type disproportion, MYH7-related late-onset scapuloperoneal muscular dystrophy
Uncertain significance
(Feb 23, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr14:23902292
GRCh38:
Chr14:23433083
MYH7Cardiovascular phenotype, Cardiomyopathy, Myosin storage myopathy,
Dilated cardiomyopathy 1S, not provided, Hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy 1, Conduction disorder of the heart, Myopathy, myosin storage, autosomal recessive,
MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy ...see more
Conflicting interpretations of pathogenicity
(Sep 9, 2022)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr14:23891524
GRCh38:
Chr14:23422315
MYH7S1037YDilated cardiomyopathy 1S, Myosin storage myopathy, not provided,
Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, MYH7-related skeletal myopathy,
Dilated cardiomyopathy 1S, Myosin storage myopathy, Congenital myopathy with fiber type disproportion,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathyCardiovascular phenotype,
Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy, ...see more
Uncertain significance
(May 5, 2023)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr14:23895198
GRCh38:
Chr14:23425989
MYH7I713VCardiovascular phenotype, Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1S,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related late-onset scapuloperoneal muscular dystrophy
Uncertain significance
(Apr 20, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr14:23886356
GRCh38:
Chr14:23417147
MHRT, MYH7Dilated cardiomyopathy 1S, Myosin storage myopathy, Cardiomyopathy,
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Feb 3, 2022)
criteria provided, conflicting interpretations
72.
GRCh37:
Chr14:23889323
GRCh38:
Chr14:23420114
MYH7A1153TDilated cardiomyopathy 1S, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1,
Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Uncertain significance
(Sep 25, 2021)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr14:23886078
GRCh38:
Chr14:23416869
MHRT, MYH7E1548VHypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion,
Myosin storage myopathy, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy, Cardiomyopathy
Uncertain significance
(Sep 17, 2021)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr14:23883033
GRCh38:
Chr14:23413824
MYH7R1909WDilated cardiomyopathy 1S, Myosin storage myopathy, MYH7-related skeletal myopathy,
not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 1,
Hypertrophic cardiomyopathy
Uncertain significance
(May 9, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr14:23894015
GRCh38:
Chr14:23424806
LOC126861898, MYH7L881RDilated cardiomyopathy 1SLikely pathogenic
(Jan 12, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr14:23896823-23896824
GRCh38:
Chr14:23427614-23427615
MYH7L620fsDilated cardiomyopathy 1SLikely pathogenic
(Jan 29, 2019)
no assertion criteria provided
77.
GRCh37:
Chr14:23888416
GRCh38:
Chr14:23419207
MYH7Cardiovascular phenotype, not provided, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S,
Cardiomyopathy, Hypertrophic cardiomyopathy ...see more
Benign/Likely benign
(Jun 13, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr14:23888492
GRCh38:
Chr14:23419283
MYH7R1289QCardiovascular phenotype, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive,
Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Myosin storage myopathy, Congenital myopathy with fiber type disproportion, Hypertrophic cardiomyopathy
Uncertain significance
(Mar 1, 2023)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr14:23899832
GRCh38:
Chr14:23430623
MYH7F312LMyopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, Myosin storage myopathy,
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy, Primary familial dilated cardiomyopathy,
not provided
Uncertain significance
(Jun 3, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr14:23900204
GRCh38:
Chr14:23430995
MYH7Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy, Dilated cardiomyopathy 1S,
Myosin storage myopathy, not provided
Conflicting interpretations of pathogenicity
(Mar 22, 2018)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr14:23885410
GRCh38:
Chr14:23416201
LOC126861897, MHRT, MYH7A1586THypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S,
Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion,
MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Conduction disorder of the heart
Uncertain significance
(Jun 23, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr14:23891405
GRCh38:
Chr14:23422196
MYH7D1077YHypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S,
Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion,
MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy
Uncertain significance
(May 5, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr14:23886441
GRCh38:
Chr14:23417232
MHRT, MYH7E1480DCardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1,
Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy,
Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy
Uncertain significance
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr14:23884292-23884293
GRCh38:
Chr14:23415083-23415084
MYH7N1824GCardiovascular phenotype, not provided, Hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Cardiomyopathy ...see more
Uncertain significance
(Sep 26, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr14:23887491
GRCh38:
Chr14:23418282
MYH7S1366LHypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Cardiovascular phenotype, Hypertrophic cardiomyopathy,
Cardiomyopathy
Uncertain significance
(Jul 5, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr14:23893307
GRCh38:
Chr14:23424098
MYH7N911YCardiomyopathy, MYH7-related skeletal myopathy, Dilated cardiomyopathy 1S,
Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy,
Congenital myopathy with fiber type disproportion, MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy
Uncertain significance
(May 28, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr14:23884377
GRCh38:
Chr14:23415168
MYH7R1796Wnot provided, Cardiomyopathy, MYH7-related skeletal myopathy,
Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Cardiovascular phenotype, Hypertrophic cardiomyopathy ...see more
Uncertain significance
(Aug 30, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr14:23896067
GRCh38:
Chr14:23426858
MYH7L655MDilated cardiomyopathy 1SPathogenic
(Jan 20, 2019)
criteria provided, single submitter
89.
GRCh37:
Chr14:23898440
GRCh38:
Chr14:23429231
MYH7Q419KDilated cardiomyopathy 1SUncertain significance
(Jan 1, 2019)
criteria provided, single submitter
90.
GRCh37:
Chr14:23898506
GRCh38:
Chr14:23429297
MYH7K397EHypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1SLikely pathogenic
(Sep 30, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr14:23885391
GRCh38:
Chr14:23416182
LOC126861897, MHRT, MYH7R1592QHypertrophic cardiomyopathy, Cardiomyopathy, Myopathy, myosin storage, autosomal recessive,
Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1
Uncertain significance
(Apr 17, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr14:23895282
GRCh38:
Chr14:23426073
MYH7D685fsMyosin storage myopathy, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive,
Congenital myopathy with fiber type disproportion, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy
Uncertain significance
(May 22, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr14:23883021
GRCh38:
Chr14:23413812
MYH7A1913TMyosin storage myopathy, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive,
Congenital myopathy with fiber type disproportion, Cardiovascular phenotype, not provided,
Hypertrophic cardiomyopathy
Uncertain significance
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr14:23899783
GRCh38:
Chr14:23430574
MYH7L329FMyosin storage myopathy, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive,
Congenital myopathy with fiber type disproportion, Hypertrophic cardiomyopathy
Uncertain significance
(Nov 26, 2021)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr14:23897864
GRCh38:
Chr14:23428655
MYH7Q475KDilated cardiomyopathy 1S, Hypertrophic cardiomyopathyConflicting interpretations of pathogenicity
(Sep 1, 2022)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr14:23884305
GRCh38:
Chr14:23415096
MYH7R1820GMyosin storage myopathy, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive,
Congenital myopathy with fiber type disproportion, Hypertrophic cardiomyopathy
Uncertain significance
(Oct 10, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr14:23894101
GRCh38:
Chr14:23424892
LOC126861898, MYH7M852IMyosin storage myopathy, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy,
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive,
Congenital myopathy with fiber type disproportion, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Nov 3, 2022)
criteria provided, conflicting interpretations
98.
GRCh37:
Chr14:23887543
GRCh38:
Chr14:23418334
MYH7E1349KCardiomyopathy, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy
Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr14:23895221
GRCh38:
Chr14:23426012
MYH7C705YDilated cardiomyopathy 1SLikely pathogenic
(Dec 29, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr14:23894008
GRCh38:
Chr14:23424799
LOC126861898, MYH7E883DDilated cardiomyopathy 1SUncertain significance
(Dec 29, 2016)
criteria provided, single submitter
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