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