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