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