MYH7 non-truncating variants in HCM cohorts

MYH7 gene summary
Overview of MYH7 in HCM

The table below lists the 864 rare (MAF<0.0001 in ExAC) non-truncating MYH7 variants identified in a cohort of 6112 HCM patients (3200 patients from OMGL, 2912 patients from LMM). When this rare variant frequency of 0.14136 is compared with a background population rate of 0.01350, there is a statistically significant case excess of 0.12786 (p<0.0001), which suggests that approximately 778 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.5696T>C p.V1899Amissense 1VUS (1)0.000008
2. c.809A>G p.K270Rmissense 1VUS (1)0.000000
3. c.3133C>T p.R1045Cmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000016
4. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
5. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
6. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
7. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
8. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
9. c.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
10. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
11. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
12. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
13. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
14. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
15. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
16. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
17. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
18. c.1207C>T p.R403Wmissense 10Pathogenic (6)Pathogenic (4)0.000000
19. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
20. c.1357C>T p.R453Cmissense 23Pathogenic (10)Pathogenic (13)0.000000
21. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
22. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
23. c.677C>T p.A226Vmissense 1VUS (1)0.000000
24. c.2302G>A p.G768Rmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
25. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
26. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
27. c.1816G>A p.V606Mmissense 22Pathogenic (13)Pathogenic (9)0.000000
28. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
29. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
30. c.2207T>C p.I736Tmissense 11Pathogenic (6)Likely Pathogenic (5)0.000000
31. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
32. c.2631G>A p.M877Imissense 1VUS (1)0.000000
33. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
34. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
35. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
36. c.788T>C p.I263Tmissense 4Pathogenic (1)Likely Pathogenic (3)0.000000
37. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
38. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
39. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
40. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
41. c.710G>A p.R237Qmissense 1VUS (1)0.000000
42. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
43. c.135G>T p.E45Dmissense 1VUS (1)0.000000
44. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
45. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
46. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
47. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
48. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
49. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
50. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
51. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
52. c.1987C>T p.R663Cmissense 8Likely Pathogenic (8)0.000000
53. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
54. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
55. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
56. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
57. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
58. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
59. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
60. c.1856C>T p.T619Imissense 3VUS (3)0.000033
61. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
62. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
63. c.611G>A p.R204Hmissense 3VUS (3)0.000000
64. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
65. c.4817G>A p.R1606Hmissense 4VUS (1)VUS (3)0.000049
66. c.958G>A p.V320Mmissense 4VUS (4)0.000008
67. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
68. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
69. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
70. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
71. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
72. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
73. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
74. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
75. c.2146G>A p.G716Rmissense 7Pathogenic (7)0.000000
76. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
77. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
78. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
79. c.2609G>A p.R870Hmissense 16Pathogenic (13)Pathogenic (3)0.000000
80. c.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
81. c.1063G>T p.A355Smissense 3VUS (3)0.000000
82. c.1988G>A p.R663Hmissense 37Pathogenic (17)Pathogenic (20)0.000016
83. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
84. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
85. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
86. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
87. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
88. c.2788G>A p.E930Kmissense 4Likely Pathogenic (1)Pathogenic (3)0.000000
89. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
90. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
91. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
92. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
93. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
94. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
95. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
96. c.4130C>T p.T1377Mmissense 12VUS (5)VUS favour pathogenic (7)0.000000
97. c.2462T>C p.F821Smissense 1VUS (1)0.000000
98. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
99. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
100. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
101. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
102. c.1142C>A p.A381Dmissense 5Likely Pathogenic (5)0.000000
103. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
104. c.500C>T p.T167Imissense 1VUS (1)0.000000
105. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
106. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
107. c.2717A>G p.D906Gmissense 11Likely Pathogenic (7)Pathogenic (4)0.000000
108. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
109. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
110. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
111. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
112. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
113. c.1491G>T p.E497Dmissense 5Likely Pathogenic (5)0.000000
114. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
115. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
116. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
117. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
118. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
119. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
120. c.1370T>C p.I457Tmissense 6Likely Pathogenic (3)Likely Pathogenic (3)0.000008
121. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
122. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
123. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
124. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
125. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
126. c.1013T>C p.V338Amissense 1VUS (1)0.000000
127. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
128. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
129. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
130. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
131. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
132. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
133. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
134. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
135. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
136. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
137. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
138. c.3475G>A p.V1159Mmissense 4VUS (4)0.000000
139. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
140. c.298G>A p.A100Tmissense 1VUS (1)0.000016
141. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
142. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
143. c.2722C>G p.L908Vmissense 21Pathogenic (5)Pathogenic (16)0.000000
144. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
145. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
146. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
147. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
148. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
149. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
150. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
151. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
152. c.1208G>A p.R403Qmissense 15Pathogenic (4)Pathogenic (11)0.000000
153. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
154. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
155. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
156. c.611G>T p.R204Lmissense 4VUS (4)0.000000
157. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
158. c.595G>A p.A199Tmissense 1VUS (1)0.000000
159. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
160. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
161. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
162. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
163. c.904C>A p.L302Mmissense 1VUS (1)0.000000
164. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
165. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
166. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
167. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
168. c.2681A>G p.E894Gmissense 11Likely Pathogenic (7)Likely Pathogenic (4)0.000000
169. c.137T>G p.F46Cmissense 1VUS (1)0.000000
170. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
171. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
172. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
173. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
174. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
175. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
176. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
177. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
178. c.3134G>T p.R1045Lmissense 3VUS (1)Likely Pathogenic (2)0.000016
179. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
180. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
181. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
182. c.1324C>T p.R442Cmissense 3Likely Pathogenic (2)Pathogenic (1)0.000008
183. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
184. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
185. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
186. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
187. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
188. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
189. c.2348G>A p.R783Hmissense 8Likely Pathogenic (8)0.000016
190. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
191. c.1182C>A p.D394Emissense 2VUS (2)0.000000
192. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
193. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
194. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
195. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
196. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
197. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
198. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
199. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
200. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
201. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
202. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
203. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
204. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
205. c.2389G>A p.A797Tmissense 36Pathogenic (24)Pathogenic (12)0.000032
206. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
207. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
208. c.1750G>C p.G584Rmissense 22Likely Pathogenic (22)0.000000
209. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
210. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
211. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
212. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
213. c.2155C>T p.R719Wmissense 10Pathogenic (5)Pathogenic (5)0.000000
214. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
215. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
216. c.964T>A p.S322Tmissense 1VUS (1)0.000000
217. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
218. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
219. c.2631G>C p.M877Imissense 3VUS (3)0.000000
220. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
221. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
222. c.2221G>T p.G741Wmissense 13Pathogenic (8)Pathogenic (5)0.000000
223. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
224. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
225. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
226. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
227. c.2770G>A p.E924Kmissense 9Pathogenic (5)Pathogenic (4)0.000000
228. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
229. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
230. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
231. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
232. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
233. c.2570C>T p.T857Imissense 1VUS (1)0.000000
234. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
235. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
236. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
237. c.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
238. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
239. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
240. c.428G>A p.R143Qmissense 7Likely Pathogenic (2)Likely Pathogenic (5)0.000008
241. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
242. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
243. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
244. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
245. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
246. c.3158G>A p.R1053Qmissense 7Likely Pathogenic (6)Likely Pathogenic (1)0.000074
247. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
248. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
249. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
250. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
251. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
252. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
253. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
254. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
255. c.343T>C p.Y115Hmissense 5Likely Pathogenic (4)Pathogenic (1)0.000008
256. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
257. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
258. c.115G>A p.V39Mmissense 1VUS (1)0.000057
259. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
260. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
261. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
262. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
263. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
264. c.968T>C p.I323Tmissense 1VUS (1)0.000075
265. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
266. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
267. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
268. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
269. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
270. c.2156G>A p.R719Qmissense 12Pathogenic (1)Pathogenic (11)0.000000
271. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
272. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
273. c.161G>A p.R54Qmissense 1VUS (1)0.000016
274. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
275. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
276. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
277. c.1346C>T p.T449Imissense 1VUS (1)0.000000
278. c.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)0.000000
279. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
280. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
281. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
282. c.2167C>T p.R723Cmissense 13Pathogenic (4)Pathogenic (9)0.000024
283. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
284. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
285. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
286. c.2700T>A p.D900Emissense 1VUS (1)0.000000
287. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
288. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
289. c.2783A>C p.D928Amissense 1VUS (1)0.000000
290. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
291. c.2539A>G p.K847Emissense 14Likely Pathogenic (10)Likely Pathogenic (4)0.000000
292. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
293. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
294. c.1063G>A p.A355Tmissense 13Likely Pathogenic (10)VUS favour pathogenic (3)0.000000
295. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
296. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
297. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
298. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
299. c.793A>T p.T265Smissense 1VUS (1)0.000000
300. c.4135G>A p.A1379Tmissense 7Pathogenic (5)Pathogenic (2)0.000000
301. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
302. c.5135G>A p.R1712Qmissense 16VUS (8)Likely Pathogenic (8)0.000008
303. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
304. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
305. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
306. c.4066G>A p.E1356Kmissense 6Likely Pathogenic (5)Likely Pathogenic (1)0.000000
307. c.2779G>A p.E927Kmissense 6VUS (3)VUS favour pathogenic (3)0.000000
308. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
309. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
310. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
311. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
312. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
313. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
314. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
315. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
316. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
317. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
318. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
319. c.715G>A p.D239Nmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
320. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
321. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
322. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
323. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
324. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
325. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
326. c.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
327. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
328. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
329. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000
330. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
331. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)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.