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