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.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.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.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.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.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.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
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.611G>T p.R204Lmissense 4VUS (4)0.000000
43. c.958G>A p.V320Mmissense 4VUS (4)0.000008
44. c.3133C>T p.R1045Cmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000016
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.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
49. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
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.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
56. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
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.1182C>A p.D394Emissense 2VUS (2)0.000000
69. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
70. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
71. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
72. c.2744T>C p.L915Pmissense 2Pathogenic (2)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.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
77. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
78. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
79. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
80. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
81. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
82. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
83. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
84. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
85. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
86. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
87. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
88. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
89. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
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.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
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.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
102. c.872C>T p.S291Fmissense 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.2536G>C p.E846Qmissense 2VUS (2)0.000000
115. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
116. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
117. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
118. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
119. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
120. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
121. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (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.4078G>A p.V1360Imissense 1VUS (1)0.000057
125. c.298G>A p.A100Tmissense 1VUS (1)0.000016
126. c.1013T>C p.V338Amissense 1VUS (1)0.000000
127. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
128. c.161G>A p.R54Qmissense 1VUS (1)0.000016
129. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
130. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
131. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
132. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
133. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
134. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
135. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
136. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
137. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
138. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
139. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
140. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
141. c.2631G>A p.M877Imissense 1VUS (1)0.000000
142. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
143. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
144. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
145. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
146. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
147. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
148. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
149. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
150. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
151. c.710G>A p.R237Qmissense 1VUS (1)0.000000
152. c.1804A>T p.N602Ymissense 1VUS (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.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
156. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
157. c.135G>T p.E45Dmissense 1VUS (1)0.000000
158. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
159. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
160. c.500C>T p.T167Imissense 1VUS (1)0.000000
161. c.4048G>A p.E1350Kmissense 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.1220G>T p.G407Vmissense 1VUS (1)0.000000
167. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
168. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
169. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
170. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
171. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
172. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
173. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
174. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
175. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
176. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
177. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
178. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
179. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
180. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
181. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
182. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
183. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
184. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
185. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
186. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
187. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
188. c.2692C>G p.L898Vmissense 1Likely 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.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
194. c.595G>A p.A199Tmissense 1VUS (1)0.000000
195. c.2462T>C p.F821Smissense 1VUS (1)0.000000
196. c.904C>A p.L302Mmissense 1VUS (1)0.000000
197. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
198. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
199. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
200. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
201. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
202. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
203. c.4000C>T p.Q1334Xnonsense 1VUS (1)0.000000
204. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
205. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
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.3830G>A p.R1277Qmissense 1VUS (1)0.000041
215. c.115G>A p.V39Mmissense 1VUS (1)0.000057
216. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
217. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
218. c.1477_1478delAT frameshift 1VUS (1)0.000000
219. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
220. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
221. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
222. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
223. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
224. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
225. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
226. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
227. c.5110C>T p.Q1704Xnonsense 1VUS (1)0.000000
228. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
229. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
230. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
231. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
232. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
233. c.2894A>G p.E965Gmissense 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.4030C>T p.R1344Wmissense 1VUS (1)0.000016
241. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
242. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
243. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
244. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
245. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
246. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
247. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
248. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
249. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
250. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
251. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
252. c.809A>G p.K270Rmissense 1VUS (1)0.000000
253. c.3626A>G p.N1209Smissense 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.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
263. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
264. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
265. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
266. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
267. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
268. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
269. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
270. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
271. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
272. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
273. c.137T>G p.F46Cmissense 1VUS (1)0.000000
274. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
275. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
276. c.2700T>A p.D900Emissense 1VUS (1)0.000000
277. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
278. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
279. c.1346C>T p.T449Imissense 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.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
289. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
290. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
291. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
292. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
293. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
294. c.968T>C p.I323Tmissense 1VUS (1)0.000075
295. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
296. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
297. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
298. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
299. c.5690G>A p.R1897Hmissense 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.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
307. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
308. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
309. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
310. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
311. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
312. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
313. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
314. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
315. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
316. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
317. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
318. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
319. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
320. c.2783A>C p.D928Amissense 1VUS (1)0.000000
321. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
322. c.677C>T p.A226Vmissense 1VUS (1)0.000000
323. c.2525G>A p.S842Nmissense 1Pathogenic (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.