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