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