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

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.