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