MYH7 non-truncating variants in HCM cohorts


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