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