MYH7 protein-altering 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.2462T>C p.F821Smissense 1VUS (1)0.000000
2. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
3. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
4. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
5. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
6. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
7. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
8. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
9. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
10. c.595G>A p.A199Tmissense 1VUS (1)0.000000
11. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
12. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
13. c.2146G>A p.G716Rmissense 7Pathogenic (7)0.000000
14. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
15. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
16. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
17. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
18. c.2788G>A p.E930Kmissense 4Likely Pathogenic (1)Pathogenic (3)0.000000
19. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
20. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
21. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
22. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
23. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
24. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
25. c.1988G>A p.R663Hmissense 37Pathogenic (17)Pathogenic (20)0.000016
26. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
27. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
28. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
29. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
30. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
31. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
32. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
33. c.4130C>T p.T1377Mmissense 12VUS (5)VUS favour pathogenic (7)0.000000
34. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
35. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
36. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
37. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
38. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
39. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
40. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
41. c.1491G>T p.E497Dmissense 5Likely Pathogenic (5)0.000000
42. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
43. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
44. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
45. c.2717A>G p.D906Gmissense 11Likely Pathogenic (7)Pathogenic (4)0.000000
46. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
47. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
48. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
49. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
50. c.1370T>C p.I457Tmissense 6Likely Pathogenic (3)Likely Pathogenic (3)0.000008
51. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
52. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
53. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
54. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
55. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
56. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
57. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
58. c.1013T>C p.V338Amissense 1VUS (1)0.000000
59. c.298G>A p.A100Tmissense 1VUS (1)0.000016
60. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
61. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
62. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
63. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
64. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
65. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
66. c.2348G>A p.R783Hmissense 8Likely Pathogenic (8)0.000016
67. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
68. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
69. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
70. c.1182C>A p.D394Emissense 2VUS (2)0.000000
71. c.611G>T p.R204Lmissense 4VUS (4)0.000000
72. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
73. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
74. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
75. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
76. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
77. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
78. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
79. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
80. c.2631G>A p.M877Imissense 1VUS (1)0.000000
81. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
82. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
83. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
84. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
85. c.1208G>A p.R403Qmissense 15Pathogenic (4)Pathogenic (11)0.000000
86. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
87. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
88. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
89. c.2722C>G p.L908Vmissense 21Pathogenic (5)Pathogenic (16)0.000000
90. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
91. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
92. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
93. c.1063G>T p.A355Smissense 3VUS (3)0.000000
94. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
95. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
96. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
97. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
98. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
99. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
100. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
101. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
102. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
103. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
104. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
105. c.2681A>G p.E894Gmissense 11Likely Pathogenic (7)Likely Pathogenic (4)0.000000
106. c.3133C>T p.R1045Cmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000016
107. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
108. c.1207C>T p.R403Wmissense 10Pathogenic (6)Pathogenic (4)0.000000
109. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
110. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
111. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
112. c.1324C>T p.R442Cmissense 3Likely Pathogenic (2)Pathogenic (1)0.000008
113. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
114. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
115. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
116. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
117. c.3134G>T p.R1045Lmissense 3VUS (1)Likely Pathogenic (2)0.000016
118. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
119. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
120. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
121. c.137T>G p.F46Cmissense 1VUS (1)0.000000
122. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
123. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
124. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
125. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
126. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
127. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
128. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
129. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
130. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
131. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
132. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
133. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
134. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
135. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
136. c.2570C>T p.T857Imissense 1VUS (1)0.000000
137. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
138. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
139. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
140. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
141. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
142. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
143. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
144. c.1750G>C p.G584Rmissense 22Likely Pathogenic (22)0.000000
145. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
146. c.3475G>A p.V1159Mmissense 4VUS (4)0.000000
147. c.2155C>T p.R719Wmissense 10Pathogenic (5)Pathogenic (5)0.000000
148. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
149. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
150. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
151. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
152. c.1142C>A p.A381Dmissense 5Likely Pathogenic (5)0.000000
153. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
154. c.2221G>T p.G741Wmissense 13Pathogenic (8)Pathogenic (5)0.000000
155. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
156. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
157. c.2770G>A p.E924Kmissense 9Pathogenic (5)Pathogenic (4)0.000000
158. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
159. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
160. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
161. c.904C>A p.L302Mmissense 1VUS (1)0.000000
162. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
163. c.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
164. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
165. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
166. c.428G>A p.R143Qmissense 7Likely Pathogenic (2)Likely Pathogenic (5)0.000008
167. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
168. c.968T>C p.I323Tmissense 1VUS (1)0.000075
169. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
170. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
171. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
172. c.3158G>A p.R1053Qmissense 7Likely Pathogenic (6)Likely Pathogenic (1)0.000074
173. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
174. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
175. c.2609G>A p.R870Hmissense 16Pathogenic (13)Pathogenic (3)0.000000
176. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
177. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
178. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
179. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
180. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
181. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
182. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
183. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
184. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
185. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
186. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
187. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
188. c.343T>C p.Y115Hmissense 5Likely Pathogenic (4)Pathogenic (1)0.000008
189. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
190. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
191. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
192. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
193. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
194. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
195. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
196. c.2783A>C p.D928Amissense 1VUS (1)0.000000
197. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
198. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
199. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
200. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
201. c.677C>T p.A226Vmissense 1VUS (1)0.000000
202. c.115G>A p.V39Mmissense 1VUS (1)0.000057
203. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
204. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
205. c.2156G>A p.R719Qmissense 12Pathogenic (1)Pathogenic (11)0.000000
206. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
207. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
208. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
209. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
210. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
211. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
212. c.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
213. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
214. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
215. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
216. c.2167C>T p.R723Cmissense 13Pathogenic (4)Pathogenic (9)0.000024
217. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
218. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
219. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
220. c.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)0.000000
221. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
222. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
223. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
224. c.1063G>A p.A355Tmissense 13Likely Pathogenic (10)VUS favour pathogenic (3)0.000000
225. c.161G>A p.R54Qmissense 1VUS (1)0.000016
226. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
227. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
228. c.4135G>A p.A1379Tmissense 7Pathogenic (5)Pathogenic (2)0.000000
229. c.964T>A p.S322Tmissense 1VUS (1)0.000000
230. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
231. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
232. c.2539A>G p.K847Emissense 14Likely Pathogenic (10)Likely Pathogenic (4)0.000000
233. c.4066G>A p.E1356Kmissense 6Likely Pathogenic (5)Likely Pathogenic (1)0.000000
234. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
235. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
236. c.2779G>A p.E927Kmissense 6VUS (3)VUS favour pathogenic (3)0.000000
237. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
238. c.5135G>A p.R1712Qmissense 16VUS (8)Likely Pathogenic (8)0.000008
239. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
240. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
241. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
242. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
243. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
244. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
245. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
246. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
247. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
248. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
249. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
250. c.715G>A p.D239Nmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
251. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
252. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
253. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
254. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
255. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
256. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
257. c.710G>A p.R237Qmissense 1VUS (1)0.000000
258. c.809A>G p.K270Rmissense 1VUS (1)0.000000
259. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
260. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
261. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
262. c.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
263. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
264. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
265. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
266. c.1856C>T p.T619Imissense 3VUS (3)0.000033
267. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
268. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
269. c.500C>T p.T167Imissense 1VUS (1)0.000000
270. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
271. c.611G>A p.R204Hmissense 3VUS (3)0.000000
272. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
273. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
274. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
275. c.958G>A p.V320Mmissense 4VUS (4)0.000008
276. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
277. c.135G>T p.E45Dmissense 1VUS (1)0.000000
278. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
279. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
280. c.1357C>T p.R453Cmissense 23Pathogenic (10)Pathogenic (13)0.000000
281. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
282. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
283. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
284. c.2631G>C p.M877Imissense 3VUS (3)0.000000
285. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
286. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
287. c.2207T>C p.I736Tmissense 11Pathogenic (6)Likely Pathogenic (5)0.000000
288. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
289. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
290. c.2700T>A p.D900Emissense 1VUS (1)0.000000
291. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
292. c.788T>C p.I263Tmissense 4Pathogenic (1)Likely Pathogenic (3)0.000000
293. c.1346C>T p.T449Imissense 1VUS (1)0.000000
294. c.2302G>A p.G768Rmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
295. c.1816G>A p.V606Mmissense 22Pathogenic (13)Pathogenic (9)0.000000
296. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
297. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
298. c.793A>T p.T265Smissense 1VUS (1)0.000000
299. c.4817G>A p.R1606Hmissense 4VUS (1)VUS (3)0.000049
300. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
301. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
302. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
303. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
304. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
305. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
306. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
307. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
308. c.1987C>T p.R663Cmissense 8Likely Pathogenic (8)0.000000
309. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
310. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
311. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
312. c.2389G>A p.A797Tmissense 36Pathogenic (24)Pathogenic (12)0.000032
313. c.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
314. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
315. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
316. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
317. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
318. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
319. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
320. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
321. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
322. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
323. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
324. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
325. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
326. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
327. c.4000C>T p.Q1334Xnonsense 1VUS (1)0.000000
328. c.345C>A p.Y115Xnonsense 2VUS (2)0.000000
329. c.5110C>T p.Q1704Xnonsense 1VUS (1)0.000000
330. c.1477_1478delAT frameshift 1VUS (1)0.000000
331. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000
332. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
333. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
334. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
335. c.2627_2629delAGA p.Lys876delinframe 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.