MYH7 variants in HCM cohorts

MYH7 gene summary
Overview of MYH7 in HCM

The table below lists the 869 rare (MAF<0.0001 in ExAC) protein-altering MYH7 variants identified in a cohort of 6112 HCM patients (3200 patients from OMGL, 2912 patients from LMM). When this rare variant frequency of 0.14218 is compared with a background population rate of 0.01398, there is a statistically significant case excess of 0.12820 (p<0.0001), which suggests that approximately 782 of these variants may be pathogenic.


Variant Type:      All protein-altering variants     -     Truncating variants     -     Non-Truncating variants
Source:      Combined (OMGL + LMM)     -     OMGL     -     LMM



No. Variant (CDS)▼ Variant (Protein) Variant Type▼ Cases (6112)▼OMGL classLMM class ExAC frequency
1. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
2. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
3. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
4. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
5. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
6. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
7. c.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
8. c.2156G>A p.R719Qmissense 12Pathogenic (1)Pathogenic (11)0.000000
9. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
10. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
11. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
12. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
13. c.2167C>T p.R723Cmissense 13Pathogenic (4)Pathogenic (9)0.000024
14. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
15. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
16. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
17. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
18. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
19. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
20. c.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)0.000000
21. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
22. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
23. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
24. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
25. c.1063G>A p.A355Tmissense 13Likely Pathogenic (10)VUS favour pathogenic (3)0.000000
26. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
27. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
28. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
29. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
30. c.964T>A p.S322Tmissense 1VUS (1)0.000000
31. c.4135G>A p.A1379Tmissense 7Pathogenic (5)Pathogenic (2)0.000000
32. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
33. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
34. c.611G>T p.R204Lmissense 4VUS (4)0.000000
35. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
36. c.2539A>G p.K847Emissense 14Likely Pathogenic (10)Likely Pathogenic (4)0.000000
37. c.2779G>A p.E927Kmissense 6VUS (3)VUS favour pathogenic (3)0.000000
38. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
39. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
40. c.5135G>A p.R1712Qmissense 16VUS (8)Likely Pathogenic (8)0.000008
41. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
42. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
43. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
44. c.4066G>A p.E1356Kmissense 6Likely Pathogenic (5)Likely Pathogenic (1)0.000000
45. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
46. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
47. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
48. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
49. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
50. c.715G>A p.D239Nmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
51. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
52. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
53. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
54. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
55. c.809A>G p.K270Rmissense 1VUS (1)0.000000
56. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
57. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
58. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
59. c.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
60. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
61. c.1856C>T p.T619Imissense 3VUS (3)0.000033
62. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
63. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
64. c.611G>A p.R204Hmissense 3VUS (3)0.000000
65. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
66. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
67. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
68. c.958G>A p.V320Mmissense 4VUS (4)0.000008
69. c.3133C>T p.R1045Cmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000016
70. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
71. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
72. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
73. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
74. c.1357C>T p.R453Cmissense 23Pathogenic (10)Pathogenic (13)0.000000
75. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
76. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
77. c.2631G>C p.M877Imissense 3VUS (3)0.000000
78. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
79. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
80. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
81. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
82. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
83. c.1207C>T p.R403Wmissense 10Pathogenic (6)Pathogenic (4)0.000000
84. c.137T>G p.F46Cmissense 1VUS (1)0.000000
85. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
86. c.2207T>C p.I736Tmissense 11Pathogenic (6)Likely Pathogenic (5)0.000000
87. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
88. c.2700T>A p.D900Emissense 1VUS (1)0.000000
89. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
90. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
91. c.1346C>T p.T449Imissense 1VUS (1)0.000000
92. c.788T>C p.I263Tmissense 4Pathogenic (1)Likely Pathogenic (3)0.000000
93. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
94. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
95. c.2302G>A p.G768Rmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
96. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
97. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
98. c.1816G>A p.V606Mmissense 22Pathogenic (13)Pathogenic (9)0.000000
99. c.2570C>T p.T857Imissense 1VUS (1)0.000000
100. c.793A>T p.T265Smissense 1VUS (1)0.000000
101. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
102. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
103. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
104. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
105. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
106. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
107. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
108. c.1987C>T p.R663Cmissense 8Likely Pathogenic (8)0.000000
109. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
110. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
111. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
112. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
113. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
114. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
115. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
116. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
117. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
118. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
119. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
120. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
121. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
122. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
123. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
124. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
125. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
126. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
127. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
128. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
129. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
130. c.968T>C p.I323Tmissense 1VUS (1)0.000075
131. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
132. c.2146G>A p.G716Rmissense 7Pathogenic (7)0.000000
133. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
134. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
135. c.2609G>A p.R870Hmissense 16Pathogenic (13)Pathogenic (3)0.000000
136. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
137. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
138. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
139. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
140. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
141. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
142. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
143. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
144. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
145. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
146. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
147. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
148. c.1988G>A p.R663Hmissense 37Pathogenic (17)Pathogenic (20)0.000016
149. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
150. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
151. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
152. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
153. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
154. c.2788G>A p.E930Kmissense 4Likely Pathogenic (1)Pathogenic (3)0.000000
155. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
156. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
157. c.2783A>C p.D928Amissense 1VUS (1)0.000000
158. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
159. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
160. c.677C>T p.A226Vmissense 1VUS (1)0.000000
161. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
162. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
163. c.4130C>T p.T1377Mmissense 12VUS (5)VUS favour pathogenic (7)0.000000
164. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
165. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
166. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
167. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
168. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
169. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
170. c.1491G>T p.E497Dmissense 5Likely Pathogenic (5)0.000000
171. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
172. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
173. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
174. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
175. c.2717A>G p.D906Gmissense 11Likely Pathogenic (7)Pathogenic (4)0.000000
176. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
177. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
178. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
179. c.1370T>C p.I457Tmissense 6Likely Pathogenic (3)Likely Pathogenic (3)0.000008
180. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
181. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
182. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
183. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
184. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
185. c.1013T>C p.V338Amissense 1VUS (1)0.000000
186. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
187. c.161G>A p.R54Qmissense 1VUS (1)0.000016
188. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
189. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
190. c.2348G>A p.R783Hmissense 8Likely Pathogenic (8)0.000016
191. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
192. c.1182C>A p.D394Emissense 2VUS (2)0.000000
193. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
194. c.298G>A p.A100Tmissense 1VUS (1)0.000016
195. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
196. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
197. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
198. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
199. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
200. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
201. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
202. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
203. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
204. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
205. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
206. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
207. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
208. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
209. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
210. c.1208G>A p.R403Qmissense 15Pathogenic (4)Pathogenic (11)0.000000
211. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
212. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
213. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
214. c.2631G>A p.M877Imissense 1VUS (1)0.000000
215. c.2722C>G p.L908Vmissense 21Pathogenic (5)Pathogenic (16)0.000000
216. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
217. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
218. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
219. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
220. c.1063G>T p.A355Smissense 3VUS (3)0.000000
221. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
222. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
223. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
224. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
225. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
226. c.710G>A p.R237Qmissense 1VUS (1)0.000000
227. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
228. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
229. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
230. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
231. c.500C>T p.T167Imissense 1VUS (1)0.000000
232. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
233. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
234. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
235. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
236. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
237. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
238. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
239. c.2681A>G p.E894Gmissense 11Likely Pathogenic (7)Likely Pathogenic (4)0.000000
240. c.135G>T p.E45Dmissense 1VUS (1)0.000000
241. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
242. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
243. c.1324C>T p.R442Cmissense 3Likely Pathogenic (2)Pathogenic (1)0.000008
244. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
245. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
246. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
247. c.3134G>T p.R1045Lmissense 3VUS (1)Likely Pathogenic (2)0.000016
248. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
249. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
250. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
251. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
252. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
253. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
254. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
255. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
256. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
257. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
258. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
259. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
260. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
261. c.4817G>A p.R1606Hmissense 4VUS (1)VUS (3)0.000049
262. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
263. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
264. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
265. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
266. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
267. c.1750G>C p.G584Rmissense 22Likely Pathogenic (22)0.000000
268. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
269. c.3475G>A p.V1159Mmissense 4VUS (4)0.000000
270. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
271. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
272. c.2155C>T p.R719Wmissense 10Pathogenic (5)Pathogenic (5)0.000000
273. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
274. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
275. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
276. c.2389G>A p.A797Tmissense 36Pathogenic (24)Pathogenic (12)0.000032
277. c.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
278. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
279. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
280. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
281. c.2221G>T p.G741Wmissense 13Pathogenic (8)Pathogenic (5)0.000000
282. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
283. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
284. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
285. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
286. c.2770G>A p.E924Kmissense 9Pathogenic (5)Pathogenic (4)0.000000
287. c.1142C>A p.A381Dmissense 5Likely Pathogenic (5)0.000000
288. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
289. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
290. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
291. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
292. c.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
293. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
294. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
295. c.428G>A p.R143Qmissense 7Likely Pathogenic (2)Likely Pathogenic (5)0.000008
296. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
297. c.595G>A p.A199Tmissense 1VUS (1)0.000000
298. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
299. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
300. c.2462T>C p.F821Smissense 1VUS (1)0.000000
301. c.904C>A p.L302Mmissense 1VUS (1)0.000000
302. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
303. c.3158G>A p.R1053Qmissense 7Likely Pathogenic (6)Likely Pathogenic (1)0.000074
304. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
305. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
306. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
307. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
308. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
309. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
310. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
311. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
312. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
313. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
314. c.343T>C p.Y115Hmissense 5Likely Pathogenic (4)Pathogenic (1)0.000008
315. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
316. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
317. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
318. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
319. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
320. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
321. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
322. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
323. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
324. c.115G>A p.V39Mmissense 1VUS (1)0.000057
325. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
326. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
327. c.5110C>T p.Q1704Xnonsense 1VUS (1)0.000000
328. c.345C>A p.Y115Xnonsense 2VUS (2)0.000000
329. c.4000C>T p.Q1334Xnonsense 1VUS (1)0.000000
330. c.1477_1478delAT frameshift 1VUS (1)0.000000
331. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
332. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
333. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
334. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
335. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000

References

1. Roddy Walsh, Kate L. Thomson, James S. Ware, Birgit H. Funke, Jessica Woodley, Karen J. McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C. Taylor, Eric V. Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook and Hugh Watkins. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2016 doi:10.1038/gim.2016.90.

2. Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Nov;17(11):880-8.