MYH7 protein-altering 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.2207T>C p.I736Tmissense 11Pathogenic (6)Likely Pathogenic (5)0.000000
17. c.2717A>G p.D906Gmissense 11Likely Pathogenic (7)Pathogenic (4)0.000000
18. c.2681A>G p.E894Gmissense 11Likely Pathogenic (7)Likely 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.1987C>T p.R663Cmissense 8Likely Pathogenic (8)0.000000
23. c.2348G>A p.R783Hmissense 8Likely Pathogenic (8)0.000016
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.3475G>A p.V1159Mmissense 4VUS (4)0.000000
37. c.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
38. c.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
39. c.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)0.000000
40. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
41. c.958G>A p.V320Mmissense 4VUS (4)0.000008
42. c.788T>C p.I263Tmissense 4Pathogenic (1)Likely Pathogenic (3)0.000000
43. c.4817G>A p.R1606Hmissense 4VUS (1)VUS (3)0.000049
44. c.2788G>A p.E930Kmissense 4Likely Pathogenic (1)Pathogenic (3)0.000000
45. c.611G>T p.R204Lmissense 4VUS (4)0.000000
46. c.3133C>T p.R1045Cmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000016
47. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
48. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
49. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
50. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
51. c.1856C>T p.T619Imissense 3VUS (3)0.000033
52. c.611G>A p.R204Hmissense 3VUS (3)0.000000
53. c.2631G>C p.M877Imissense 3VUS (3)0.000000
54. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
55. c.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
56. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
57. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000
58. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
59. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
60. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
61. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
62. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
63. c.1063G>T p.A355Smissense 3VUS (3)0.000000
64. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
65. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
66. c.3134G>T p.R1045Lmissense 3VUS (1)Likely Pathogenic (2)0.000016
67. c.1324C>T p.R442Cmissense 3Likely Pathogenic (2)Pathogenic (1)0.000008
68. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
69. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
70. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
71. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
72. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
73. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
74. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
75. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
76. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
77. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
78. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
79. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
80. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
81. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
82. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
83. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
84. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
85. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
86. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
87. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
88. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
89. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
90. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
91. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
92. c.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
93. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
94. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
95. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
96. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
97. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
98. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
99. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
100. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
101. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
102. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
103. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
104. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
105. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
106. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
107. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
108. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
109. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
110. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
111. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
112. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
113. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
114. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
115. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
116. c.1182C>A p.D394Emissense 2VUS (2)0.000000
117. c.345C>A p.Y115Xnonsense 2VUS (2)0.000000
118. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
119. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
120. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
121. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
122. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
123. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
124. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
125. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
126. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
127. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
128. c.137T>G p.F46Cmissense 1VUS (1)0.000000
129. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
130. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
131. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
132. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
133. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
134. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
135. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
136. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
137. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
138. c.2570C>T p.T857Imissense 1VUS (1)0.000000
139. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
140. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
141. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
142. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
143. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
144. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
145. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
146. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
147. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
148. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
149. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
150. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
151. c.968T>C p.I323Tmissense 1VUS (1)0.000075
152. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
153. c.904C>A p.L302Mmissense 1VUS (1)0.000000
154. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
155. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
156. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
157. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
158. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
159. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
160. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
161. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
162. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
163. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
164. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
165. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
166. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
167. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
168. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
169. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
170. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
171. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
172. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
173. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
174. c.2783A>C p.D928Amissense 1VUS (1)0.000000
175. c.1477_1478delAT frameshift 1VUS (1)0.000000
176. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
177. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
178. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
179. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
180. c.677C>T p.A226Vmissense 1VUS (1)0.000000
181. c.115G>A p.V39Mmissense 1VUS (1)0.000057
182. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
183. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
184. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
185. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
186. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
187. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
188. c.5110C>T p.Q1704Xnonsense 1VUS (1)0.000000
189. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
190. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
191. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
192. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
193. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
194. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
195. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
196. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
197. c.161G>A p.R54Qmissense 1VUS (1)0.000016
198. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
199. c.964T>A p.S322Tmissense 1VUS (1)0.000000
200. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
201. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
202. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
203. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
204. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
205. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
206. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
207. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
208. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
209. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
210. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
211. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
212. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
213. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
214. c.710G>A p.R237Qmissense 1VUS (1)0.000000
215. c.809A>G p.K270Rmissense 1VUS (1)0.000000
216. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
217. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
218. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
219. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
220. c.135G>T p.E45Dmissense 1VUS (1)0.000000
221. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
222. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
223. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
224. c.500C>T p.T167Imissense 1VUS (1)0.000000
225. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
226. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
227. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
228. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
229. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
230. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
231. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
232. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
233. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
234. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
235. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
236. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
237. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
238. c.2700T>A p.D900Emissense 1VUS (1)0.000000
239. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
240. c.1346C>T p.T449Imissense 1VUS (1)0.000000
241. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
242. c.793A>T p.T265Smissense 1VUS (1)0.000000
243. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
244. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
245. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
246. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
247. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
248. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
249. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
250. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
251. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
252. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
253. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
254. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
255. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
256. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
257. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
258. c.2462T>C p.F821Smissense 1VUS (1)0.000000
259. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
260. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
261. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
262. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
263. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
264. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
265. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
266. c.595G>A p.A199Tmissense 1VUS (1)0.000000
267. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
268. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
269. c.4000C>T p.Q1334Xnonsense 1VUS (1)0.000000
270. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
271. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
272. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
273. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
274. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
275. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
276. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
277. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
278. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
279. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
280. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
281. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
282. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
283. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
284. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
285. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
286. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
287. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
288. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
289. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
290. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
291. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
292. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
293. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
294. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
295. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
296. c.1013T>C p.V338Amissense 1VUS (1)0.000000
297. c.298G>A p.A100Tmissense 1VUS (1)0.000016
298. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
299. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
300. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
301. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
302. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
303. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
304. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
305. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
306. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
307. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
308. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
309. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
310. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
311. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
312. c.2631G>A p.M877Imissense 1VUS (1)0.000000
313. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
314. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
315. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
316. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
317. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
318. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
319. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
320. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
321. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
322. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
323. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
324. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
325. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
326. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
327. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
328. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
329. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
330. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
331. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
332. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
333. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
334. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
335. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (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.