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.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.1063G>A p.A355Tmissense 13Likely Pathogenic (10)VUS favour pathogenic (3)0.000000
13. c.2167C>T p.R723Cmissense 13Pathogenic (4)Pathogenic (9)0.000024
14. c.4130C>T p.T1377Mmissense 12VUS (5)VUS favour pathogenic (7)0.000000
15. c.2156G>A p.R719Qmissense 12Pathogenic (1)Pathogenic (11)0.000000
16. c.2717A>G p.D906Gmissense 11Likely Pathogenic (7)Pathogenic (4)0.000000
17. c.2681A>G p.E894Gmissense 11Likely Pathogenic (7)Likely Pathogenic (4)0.000000
18. c.2207T>C p.I736Tmissense 11Pathogenic (6)Likely Pathogenic (5)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.2146G>A p.G716Rmissense 7Pathogenic (7)0.000000
25. c.2302G>A p.G768Rmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
26. c.428G>A p.R143Qmissense 7Likely Pathogenic (2)Likely Pathogenic (5)0.000008
27. c.3158G>A p.R1053Qmissense 7Likely Pathogenic (6)Likely Pathogenic (1)0.000074
28. c.715G>A p.D239Nmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
29. c.4135G>A p.A1379Tmissense 7Pathogenic (5)Pathogenic (2)0.000000
30. c.2779G>A p.E927Kmissense 6VUS (3)VUS favour pathogenic (3)0.000000
31. c.1370T>C p.I457Tmissense 6Likely Pathogenic (3)Likely Pathogenic (3)0.000008
32. c.4066G>A p.E1356Kmissense 6Likely Pathogenic (5)Likely Pathogenic (1)0.000000
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.611G>T p.R204Lmissense 4VUS (4)0.000000
37. c.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)0.000000
38. c.3133C>T p.R1045Cmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000016
39. c.4817G>A p.R1606Hmissense 4VUS (1)VUS (3)0.000049
40. c.3475G>A p.V1159Mmissense 4VUS (4)0.000000
41. c.788T>C p.I263Tmissense 4Pathogenic (1)Likely Pathogenic (3)0.000000
42. c.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
43. c.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
44. c.2788G>A p.E930Kmissense 4Likely Pathogenic (1)Pathogenic (3)0.000000
45. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
46. c.958G>A p.V320Mmissense 4VUS (4)0.000008
47. c.1856C>T p.T619Imissense 3VUS (3)0.000033
48. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
49. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
50. c.1063G>T p.A355Smissense 3VUS (3)0.000000
51. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
52. c.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)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.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
56. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
57. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
58. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
59. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
60. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
61. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
62. c.611G>A p.R204Hmissense 3VUS (3)0.000000
63. c.2631G>C p.M877Imissense 3VUS (3)0.000000
64. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000
65. c.3134G>T p.R1045Lmissense 3VUS (1)Likely Pathogenic (2)0.000016
66. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
67. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
68. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
69. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
70. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
71. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
72. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
73. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
74. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
75. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
76. c.1182C>A p.D394Emissense 2VUS (2)0.000000
77. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
78. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
79. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
80. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
81. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
82. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
83. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
84. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
85. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
86. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
87. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
88. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
89. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
90. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
91. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
92. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
93. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
94. c.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
95. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
96. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
97. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
98. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
99. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
100. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
101. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
102. c.345C>A p.Y115Xnonsense 2VUS (2)0.000000
103. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
104. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
105. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
106. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
107. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
108. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
109. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
110. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
111. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
112. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
113. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
114. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
115. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
116. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
117. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
118. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
119. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
120. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
121. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
122. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
123. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
124. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
125. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
126. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
127. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
128. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
129. c.161G>A p.R54Qmissense 1VUS (1)0.000016
130. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
131. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
132. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
133. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
134. c.677C>T p.A226Vmissense 1VUS (1)0.000000
135. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
136. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
137. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
138. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
139. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
140. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
141. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
142. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
143. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
144. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
145. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
146. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
147. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
148. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
149. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
150. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
151. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
152. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
153. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
154. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
155. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
156. c.1013T>C p.V338Amissense 1VUS (1)0.000000
157. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
158. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
159. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
160. c.298G>A p.A100Tmissense 1VUS (1)0.000016
161. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
162. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
163. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
164. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
165. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
166. c.137T>G p.F46Cmissense 1VUS (1)0.000000
167. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
168. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
169. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
170. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
171. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
172. c.2631G>A p.M877Imissense 1VUS (1)0.000000
173. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
174. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
175. c.2570C>T p.T857Imissense 1VUS (1)0.000000
176. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
177. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
178. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
179. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
180. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
181. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
182. c.710G>A p.R237Qmissense 1VUS (1)0.000000
183. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
184. c.500C>T p.T167Imissense 1VUS (1)0.000000
185. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
186. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
187. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
188. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
189. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
190. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
191. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
192. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
193. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
194. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
195. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
196. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
197. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
198. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
199. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
200. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
201. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
202. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
203. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
204. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
205. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
206. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
207. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
208. c.115G>A p.V39Mmissense 1VUS (1)0.000057
209. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
210. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
211. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
212. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
213. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
214. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
215. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
216. c.2783A>C p.D928Amissense 1VUS (1)0.000000
217. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
218. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
219. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
220. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
221. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
222. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
223. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
224. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
225. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
226. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
227. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
228. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
229. c.595G>A p.A199Tmissense 1VUS (1)0.000000
230. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
231. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
232. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
233. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
234. c.904C>A p.L302Mmissense 1VUS (1)0.000000
235. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
236. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
237. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
238. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
239. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
240. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
241. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
242. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
243. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
244. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
245. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
246. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
247. c.1477_1478delAT frameshift 1VUS (1)0.000000
248. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
249. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
250. c.5110C>T p.Q1704Xnonsense 1VUS (1)0.000000
251. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
252. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
253. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
254. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
255. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
256. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
257. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
258. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
259. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
260. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
261. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
262. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
263. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
264. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
265. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
266. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
267. c.964T>A p.S322Tmissense 1VUS (1)0.000000
268. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
269. c.135G>T p.E45Dmissense 1VUS (1)0.000000
270. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
271. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
272. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
273. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
274. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
275. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
276. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
277. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
278. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
279. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
280. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
281. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
282. c.809A>G p.K270Rmissense 1VUS (1)0.000000
283. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
284. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
285. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
286. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
287. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
288. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
289. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
290. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
291. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
292. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
293. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
294. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
295. c.2700T>A p.D900Emissense 1VUS (1)0.000000
296. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
297. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
298. c.968T>C p.I323Tmissense 1VUS (1)0.000075
299. c.1346C>T p.T449Imissense 1VUS (1)0.000000
300. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
301. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
302. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
303. c.2462T>C p.F821Smissense 1VUS (1)0.000000
304. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
305. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
306. c.4000C>T p.Q1334Xnonsense 1VUS (1)0.000000
307. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
308. c.793A>T p.T265Smissense 1VUS (1)0.000000
309. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
310. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
311. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
312. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
313. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
314. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
315. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
316. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
317. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
318. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
319. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
320. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
321. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
322. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
323. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
324. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
325. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
326. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
327. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
328. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
329. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
330. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
331. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
332. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
333. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
334. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
335. c.3484G>A p.E1162Kmissense 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.