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