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