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