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.5020G>A p.V1674Mmissense 1VUS (1)0.000024
2. c.958G>A p.V320Mmissense 4VUS (4)0.000008
3. c.3133C>T p.R1045Cmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000016
4. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
5. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
6. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
7. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
8. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
9. c.611G>A p.R204Hmissense 3VUS (3)0.000000
10. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
11. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
12. c.2631G>C p.M877Imissense 3VUS (3)0.000000
13. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
14. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
15. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
16. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
17. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
18. c.1207C>T p.R403Wmissense 10Pathogenic (6)Pathogenic (4)0.000000
19. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
20. c.1357C>T p.R453Cmissense 23Pathogenic (10)Pathogenic (13)0.000000
21. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
22. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
23. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
24. c.2302G>A p.G768Rmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
25. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
26. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
27. c.1816G>A p.V606Mmissense 22Pathogenic (13)Pathogenic (9)0.000000
28. c.137T>G p.F46Cmissense 1VUS (1)0.000000
29. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
30. c.2207T>C p.I736Tmissense 11Pathogenic (6)Likely Pathogenic (5)0.000000
31. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
32. c.2700T>A p.D900Emissense 1VUS (1)0.000000
33. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
34. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
35. c.1346C>T p.T449Imissense 1VUS (1)0.000000
36. c.788T>C p.I263Tmissense 4Pathogenic (1)Likely Pathogenic (3)0.000000
37. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
38. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
39. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
40. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
41. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
42. c.2570C>T p.T857Imissense 1VUS (1)0.000000
43. c.793A>T p.T265Smissense 1VUS (1)0.000000
44. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
45. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
46. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
47. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
48. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
49. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
50. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
51. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
52. c.1987C>T p.R663Cmissense 8Likely Pathogenic (8)0.000000
53. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
54. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
55. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
56. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
57. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
58. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
59. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
60. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
61. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
62. c.968T>C p.I323Tmissense 1VUS (1)0.000075
63. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
64. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
65. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
66. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
67. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
68. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
69. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
70. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
71. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
72. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
73. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
74. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
75. c.2146G>A p.G716Rmissense 7Pathogenic (7)0.000000
76. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
77. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
78. c.2609G>A p.R870Hmissense 16Pathogenic (13)Pathogenic (3)0.000000
79. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
80. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
81. c.1988G>A p.R663Hmissense 37Pathogenic (17)Pathogenic (20)0.000016
82. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
83. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
84. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
85. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
86. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
87. c.2788G>A p.E930Kmissense 4Likely Pathogenic (1)Pathogenic (3)0.000000
88. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
89. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
90. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
91. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
92. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
93. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
94. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
95. c.4130C>T p.T1377Mmissense 12VUS (5)VUS favour pathogenic (7)0.000000
96. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
97. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
98. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
99. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
100. c.2783A>C p.D928Amissense 1VUS (1)0.000000
101. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
102. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
103. c.677C>T p.A226Vmissense 1VUS (1)0.000000
104. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
105. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
106. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
107. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
108. c.2717A>G p.D906Gmissense 11Likely Pathogenic (7)Pathogenic (4)0.000000
109. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
110. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
111. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
112. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
113. c.1491G>T p.E497Dmissense 5Likely Pathogenic (5)0.000000
114. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
115. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
116. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
117. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
118. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
119. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
120. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
121. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
122. c.1370T>C p.I457Tmissense 6Likely Pathogenic (3)Likely Pathogenic (3)0.000008
123. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
124. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
125. c.1182C>A p.D394Emissense 2VUS (2)0.000000
126. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
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.161G>A p.R54Qmissense 1VUS (1)0.000016
131. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
132. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
133. c.2348G>A p.R783Hmissense 8Likely Pathogenic (8)0.000016
134. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
135. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
136. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
137. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
138. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
139. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
140. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
141. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
142. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
143. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
144. c.2631G>A p.M877Imissense 1VUS (1)0.000000
145. c.2722C>G p.L908Vmissense 21Pathogenic (5)Pathogenic (16)0.000000
146. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
147. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
148. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
149. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
150. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
151. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
152. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
153. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
154. c.1208G>A p.R403Qmissense 15Pathogenic (4)Pathogenic (11)0.000000
155. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
156. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
157. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
158. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
159. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
160. c.710G>A p.R237Qmissense 1VUS (1)0.000000
161. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
162. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
163. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
164. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
165. c.1063G>T p.A355Smissense 3VUS (3)0.000000
166. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
167. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
168. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
169. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
170. c.2681A>G p.E894Gmissense 11Likely Pathogenic (7)Likely Pathogenic (4)0.000000
171. c.135G>T p.E45Dmissense 1VUS (1)0.000000
172. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
173. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
174. c.500C>T p.T167Imissense 1VUS (1)0.000000
175. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
176. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
177. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
178. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
179. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
180. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
181. c.3134G>T p.R1045Lmissense 3VUS (1)Likely Pathogenic (2)0.000016
182. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
183. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
184. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
185. c.1324C>T p.R442Cmissense 3Likely Pathogenic (2)Pathogenic (1)0.000008
186. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
187. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
188. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
189. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
190. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
191. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
192. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
193. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
194. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
195. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
196. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
197. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
198. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
199. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
200. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
201. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
202. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
203. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
204. c.4817G>A p.R1606Hmissense 4VUS (1)VUS (3)0.000049
205. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
206. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
207. c.2389G>A p.A797Tmissense 36Pathogenic (24)Pathogenic (12)0.000032
208. c.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
209. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
210. c.1750G>C p.G584Rmissense 22Likely Pathogenic (22)0.000000
211. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
212. c.3475G>A p.V1159Mmissense 4VUS (4)0.000000
213. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
214. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
215. c.2155C>T p.R719Wmissense 10Pathogenic (5)Pathogenic (5)0.000000
216. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
217. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
218. c.1142C>A p.A381Dmissense 5Likely Pathogenic (5)0.000000
219. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
220. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
221. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
222. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
223. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
224. c.2221G>T p.G741Wmissense 13Pathogenic (8)Pathogenic (5)0.000000
225. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
226. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
227. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
228. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
229. c.2770G>A p.E924Kmissense 9Pathogenic (5)Pathogenic (4)0.000000
230. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
231. c.595G>A p.A199Tmissense 1VUS (1)0.000000
232. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
233. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
234. c.2462T>C p.F821Smissense 1VUS (1)0.000000
235. c.904C>A p.L302Mmissense 1VUS (1)0.000000
236. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
237. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
238. c.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
239. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
240. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
241. c.428G>A p.R143Qmissense 7Likely Pathogenic (2)Likely Pathogenic (5)0.000008
242. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
243. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
244. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
245. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
246. c.3158G>A p.R1053Qmissense 7Likely Pathogenic (6)Likely Pathogenic (1)0.000074
247. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
248. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
249. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
250. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
251. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
252. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
253. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
254. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
255. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
256. c.343T>C p.Y115Hmissense 5Likely Pathogenic (4)Pathogenic (1)0.000008
257. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
258. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
259. c.115G>A p.V39Mmissense 1VUS (1)0.000057
260. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
261. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
262. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
263. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
264. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
265. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
266. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
267. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
268. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
269. c.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
270. c.2156G>A p.R719Qmissense 12Pathogenic (1)Pathogenic (11)0.000000
271. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
272. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
273. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
274. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
275. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
276. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
277. c.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)0.000000
278. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
279. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
280. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
281. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
282. c.2167C>T p.R723Cmissense 13Pathogenic (4)Pathogenic (9)0.000024
283. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
284. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
285. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
286. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
287. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
288. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
289. c.611G>T p.R204Lmissense 4VUS (4)0.000000
290. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
291. c.2539A>G p.K847Emissense 14Likely Pathogenic (10)Likely Pathogenic (4)0.000000
292. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
293. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
294. c.1063G>A p.A355Tmissense 13Likely Pathogenic (10)VUS favour pathogenic (3)0.000000
295. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
296. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
297. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
298. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
299. c.964T>A p.S322Tmissense 1VUS (1)0.000000
300. c.4135G>A p.A1379Tmissense 7Pathogenic (5)Pathogenic (2)0.000000
301. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
302. c.5135G>A p.R1712Qmissense 16VUS (8)Likely Pathogenic (8)0.000008
303. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
304. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
305. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
306. c.4066G>A p.E1356Kmissense 6Likely Pathogenic (5)Likely Pathogenic (1)0.000000
307. c.2779G>A p.E927Kmissense 6VUS (3)VUS favour pathogenic (3)0.000000
308. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
309. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
310. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
311. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
312. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
313. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
314. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
315. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
316. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
317. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
318. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
319. c.715G>A p.D239Nmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
320. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
321. c.1856C>T p.T619Imissense 3VUS (3)0.000033
322. c.809A>G p.K270Rmissense 1VUS (1)0.000000
323. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
324. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
325. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
326. c.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
327. c.4000C>T p.Q1334Xnonsense 1VUS (1)0.000000
328. c.5110C>T p.Q1704Xnonsense 1VUS (1)0.000000
329. c.345C>A p.Y115Xnonsense 2VUS (2)0.000000
330. c.1477_1478delAT frameshift 1VUS (1)0.000000
331. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
332. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
333. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
334. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
335. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)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.