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Links from MedGen

Items: 1 to 100 of 1413

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:23859426-23859430
GRCh38:
Chr14:23390217-23390221
MYH6T1190fsHypertrophic cardiomyopathy 14Uncertain significance
(Feb 23, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr14:23863431-23894131
MIR208B, MYH7, MYH6Hypertrophic cardiomyopathy 14Uncertain significance
(Dec 5, 2021)
criteria provided, single submitter
3.
GRCh37:
Chr14:23857696-23858733
MYH6, MIR208AHypertrophic cardiomyopathy 14Uncertain significance
(Mar 31, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr14:23861751-23888838
MYH7, MIR208B, MYH6Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathyUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr14:23859547
GRCh38:
Chr14:23390338
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Sep 1, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr14:23862714
GRCh38:
Chr14:23393505
MYH6T981IHypertrophic cardiomyopathy 14Uncertain significance
(Oct 20, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr14:23866362
GRCh38:
Chr14:23397153
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Aug 21, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr14:23867952
GRCh38:
Chr14:23398743
MYH6A626THypertrophic cardiomyopathy 14Uncertain significance
(Dec 12, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr14:23862198
GRCh38:
Chr14:23392989
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Mar 28, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr14:23870132
GRCh38:
Chr14:23400923
MYH6G399ECardiomyopathy, Hypertrophic cardiomyopathy 14Uncertain significance
(Dec 22, 2021)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr14:23855509
GRCh38:
Chr14:23386300
LOC126861896, MYH6Hypertrophic cardiomyopathy 14Likely benign
(Jan 19, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr14:23866197
GRCh38:
Chr14:23396988
MYH6I715VHypertrophic cardiomyopathy 14Uncertain significance
(Jun 3, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr14:23859370
GRCh38:
Chr14:23390161
MYH6D1210NHypertrophic cardiomyopathy 14Uncertain significance
(Feb 8, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr14:23872024
GRCh38:
Chr14:23402815
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Feb 6, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr14:23863262
GRCh38:
Chr14:23394053
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Jun 24, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr14:23861759
GRCh38:
Chr14:23392550
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Mar 8, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr14:23856956
GRCh38:
Chr14:23387747
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Aug 29, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr14:23855720
GRCh38:
Chr14:23386511
LOC126861896, MYH6A1588VHypertrophic cardiomyopathy 14Uncertain significance
(Jan 21, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr14:23866297-23866304
GRCh38:
Chr14:23397088-23397095
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Apr 27, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr14:23854255
GRCh38:
Chr14:23385046
MYH6Hypertrophic cardiomyopathy 14Likely benign
(May 10, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr14:23858886
GRCh38:
Chr14:23389677
MYH6N1259DHypertrophic cardiomyopathy 14Uncertain significance
(Feb 20, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr14:23859382
GRCh38:
Chr14:23390173
MYH6G1206SHypertrophic cardiomyopathy 14Uncertain significance
(May 18, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr14:23853648
GRCh38:
Chr14:23384439
MYH6Hypertrophic cardiomyopathy 14Uncertain significance
(Apr 30, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr14:23868156
GRCh38:
Chr14:23398947
MYH6L558MHypertrophic cardiomyopathy 14Uncertain significance
(Feb 12, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr14:23862176
GRCh38:
Chr14:23392967
MYH6E1066KHypertrophic cardiomyopathy 14Uncertain significance
(Aug 23, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr14:23865641
GRCh38:
Chr14:23396432
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Nov 1, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr14:23855513
GRCh38:
Chr14:23386304
LOC126861896, MYH6Hypertrophic cardiomyopathy 14Likely benign
(Apr 22, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr14:23859278
GRCh38:
Chr14:23390069
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Aug 21, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr14:23851780
GRCh38:
Chr14:23382571
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Feb 6, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr14:23873529
GRCh38:
Chr14:23404320
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Apr 21, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr14:23862640
GRCh38:
Chr14:23393431
MYH6Q1006EHypertrophic cardiomyopathy 14Uncertain significance
(May 5, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr14:23868265
GRCh38:
Chr14:23399056
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Nov 1, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr14:23861777-23861778
GRCh38:
Chr14:23392568-23392569
MYH6N1113fsHypertrophic cardiomyopathy 14Uncertain significance
(Aug 20, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr14:23858204
GRCh38:
Chr14:23388995
MYH6E1347KHypertrophic cardiomyopathy 14Uncertain significance
(Jul 3, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr14:23862577
GRCh38:
Chr14:23393368
MYH6V1027IHypertrophic cardiomyopathy 14Uncertain significance
(Apr 25, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr14:23872961
GRCh38:
Chr14:23403752
MYH6Cardiovascular phenotype, Hypertrophic cardiomyopathy 14Likely benign
(Feb 11, 2023)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr14:23861774
GRCh38:
Chr14:23392565
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Apr 18, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr14:23874989
GRCh38:
Chr14:23405780
MYH6, LOC114827851Hypertrophic cardiomyopathy 14Likely benign
(Sep 27, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr14:23858790
GRCh38:
Chr14:23389581
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Jun 3, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr14:23851651
GRCh38:
Chr14:23382442
MYH6D1928NHypertrophic cardiomyopathy 14Uncertain significance
(Aug 18, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr14:23862736
GRCh38:
Chr14:23393527
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Mar 14, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr14:23872568
GRCh38:
Chr14:23403359
MYH6P296LHypertrophic cardiomyopathy 14Uncertain significance
(Jun 20, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr14:23866207
GRCh38:
Chr14:23396998
MYH6F711LHypertrophic cardiomyopathy 14Uncertain significance
(Aug 12, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr14:23862860
GRCh38:
Chr14:23393651
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Sep 3, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr14:23863316
GRCh38:
Chr14:23394107
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Aug 4, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr14:23853677
GRCh38:
Chr14:23384468
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Jul 25, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr14:23854106
GRCh38:
Chr14:23384897
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Jul 22, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr14:23858058
GRCh38:
Chr14:23388849
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Mar 25, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr14:23866366
GRCh38:
Chr14:23397157
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Oct 30, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr14:23855809
GRCh38:
Chr14:23386600
LOC126861896, MYH6Hypertrophic cardiomyopathy 14Likely benign
(Jul 17, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr14:23856771
GRCh38:
Chr14:23387562
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Feb 1, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr14:23858860
GRCh38:
Chr14:23389651
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Apr 23, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr14:23863081
GRCh38:
Chr14:23393872
MYH6D908HHypertrophic cardiomyopathy 14Uncertain significance
(Feb 15, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr14:23856801
GRCh38:
Chr14:23387592
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Aug 22, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr14:23856816
GRCh38:
Chr14:23387607
MYH6N1524KHypertrophic cardiomyopathy 14Uncertain significance
(Feb 2, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr14:23866021
GRCh38:
Chr14:23396812
MYH6R725LHypertrophic cardiomyopathy 14Uncertain significance
(Feb 8, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr14:23873522
GRCh38:
Chr14:23404313
MYH6D240NHypertrophic cardiomyopathy 14Uncertain significance
(Dec 24, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr14:23865524
GRCh38:
Chr14:23396315
MYH6R800SHypertrophic cardiomyopathy 14Uncertain significance
(Mar 11, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr14:23859338
GRCh38:
Chr14:23390129
MYH6E1220DHypertrophic cardiomyopathy 14Uncertain significance
(Apr 30, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr14:23865640
GRCh38:
Chr14:23396431
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Aug 27, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr14:23856871
GRCh38:
Chr14:23387662
MYH6Hypertrophic cardiomyopathy 14Uncertain significance
(May 9, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr14:23855553
GRCh38:
Chr14:23386344
LOC126861896, MYH6Q1644EHypertrophic cardiomyopathy 14Uncertain significance
(Apr 28, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr14:23859283
GRCh38:
Chr14:23390074
MYH6Q1239EHypertrophic cardiomyopathy 14Uncertain significance
(Apr 11, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr14:23865534
GRCh38:
Chr14:23396325
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Apr 22, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr14:23855555
GRCh38:
Chr14:23386346
LOC126861896, MYH6K1643THypertrophic cardiomyopathy 14Uncertain significance
(Apr 2, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr14:23853885
GRCh38:
Chr14:23384676
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Mar 27, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr14:23862533
GRCh38:
Chr14:23393324
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Mar 20, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr14:23863309
GRCh38:
Chr14:23394100
MYH6E885KHypertrophic cardiomyopathy 14Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr14:23871941
GRCh38:
Chr14:23402732
MYH6S323PHypertrophic cardiomyopathy 14Uncertain significance
(Mar 14, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr14:23853708
GRCh38:
Chr14:23384499
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Mar 10, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr14:23853834
GRCh38:
Chr14:23384625
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Mar 5, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr14:23854109
GRCh38:
Chr14:23384900
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Feb 19, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr14:23863096
GRCh38:
Chr14:23393887
MYH6A903THypertrophic cardiomyopathy 14Uncertain significance
(Mar 10, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr14:23859297
GRCh38:
Chr14:23390088
MYH6T1234IHypertrophic cardiomyopathy 14Uncertain significance
(Feb 22, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr14:23862646
GRCh38:
Chr14:23393437
MYH6A1004THypertrophic cardiomyopathy 14Uncertain significance
(May 14, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr14:23863133
GRCh38:
Chr14:23393924
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Feb 21, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr14:23870141
GRCh38:
Chr14:23400932
MYH6L396PHypertrophic cardiomyopathy 14Uncertain significance
(Apr 6, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr14:23862697
GRCh38:
Chr14:23393488
MYH6L987VHypertrophic cardiomyopathy 14Uncertain significance
(Jul 17, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr14:23855598
GRCh38:
Chr14:23386389
LOC126861896, MYH6I1629VHypertrophic cardiomyopathy 14Uncertain significance
(Feb 12, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr14:23869530
GRCh38:
Chr14:23400321
MYH6G506RHypertrophic cardiomyopathy 14Uncertain significance
(Feb 12, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr14:23854124
GRCh38:
Chr14:23384915
MYH6Hypertrophic cardiomyopathy 14Uncertain significance
(Feb 25, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr14:23866028
GRCh38:
Chr14:23396819
MYH6Hypertrophic cardiomyopathy 14Uncertain significance
(Feb 6, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr14:23872913
GRCh38:
Chr14:23403704
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Feb 6, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr14:23873563
GRCh38:
Chr14:23404354
MYH6P226RHypertrophic cardiomyopathy 14Uncertain significance
(Jan 29, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr14:23855538
GRCh38:
Chr14:23386329
LOC126861896, MYH6Q1649*Hypertrophic cardiomyopathy 14Uncertain significance
(Jan 23, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr14:23851278
GRCh38:
Chr14:23382069
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Jan 19, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr14:23857350
GRCh38:
Chr14:23388141
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Jul 26, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr14:23852451
GRCh38:
Chr14:23383242
MYH6R1882CHypertrophic cardiomyopathy 14Uncertain significance
(Sep 14, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr14:23862617
GRCh38:
Chr14:23393408
MYH6Hypertrophic cardiomyopathy 14Uncertain significance
(Jan 15, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr14:23862204
GRCh38:
Chr14:23392995
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Mar 13, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr14:23854115
GRCh38:
Chr14:23384906
MYH6Hypertrophic cardiomyopathy 14Likely benign
(May 25, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr14:23866362
GRCh38:
Chr14:23397153
MYH6Hypertrophic cardiomyopathy 14Likely benign
(May 3, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr14:23871740
GRCh38:
Chr14:23402531
MYH6M358IHypertrophic cardiomyopathy 14Uncertain significance
(Jul 7, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr14:23859619
GRCh38:
Chr14:23390410
MYH6E1127KHypertrophic cardiomyopathy 14Uncertain significance
(Apr 8, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr14:23861759
GRCh38:
Chr14:23392550
MYH6Hypertrophic cardiomyopathy 14Benign
(Oct 17, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr14:23865590
GRCh38:
Chr14:23396381
MYH6M778LHypertrophic cardiomyopathy 14Uncertain significance
(Oct 18, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr14:23871829
GRCh38:
Chr14:23402620
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Sep 7, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr14:23865474
GRCh38:
Chr14:23396265
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Sep 13, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr14:23871704
GRCh38:
Chr14:23402495
MYH6Hypertrophic cardiomyopathy 14Likely benign
(Aug 12, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr14:23858688
GRCh38:
Chr14:23389479
MYH6A1298THypertrophic cardiomyopathy 14Uncertain significance
(Sep 14, 2022)
criteria provided, single submitter
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