MYH7 variants in HCM cohorts


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.1816G>A p.V606Mmissense 22Pathogenic (13)Pathogenic (9)0.000000
5. c.1750G>C p.G584Rmissense 22Likely Pathogenic (22)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.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.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.1987C>T p.R663Cmissense 8Likely Pathogenic (8)0.000000
23. c.2348G>A p.R783Hmissense 8Likely Pathogenic (8)0.000016
24. c.715G>A p.D239Nmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
25. c.2146G>A p.G716Rmissense 7Pathogenic (7)0.000000
26. c.4135G>A p.A1379Tmissense 7Pathogenic (5)Pathogenic (2)0.000000
27. c.428G>A p.R143Qmissense 7Likely Pathogenic (2)Likely Pathogenic (5)0.000008
28. c.2302G>A p.G768Rmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
29. c.3158G>A p.R1053Qmissense 7Likely Pathogenic (6)Likely Pathogenic (1)0.000074
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.343T>C p.Y115Hmissense 5Likely Pathogenic (4)Pathogenic (1)0.000008
34. c.1142C>A p.A381Dmissense 5Likely Pathogenic (5)0.000000
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.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)0.000000
38. c.4817G>A p.R1606Hmissense 4VUS (1)VUS (3)0.000049
39. c.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
40. c.788T>C p.I263Tmissense 4Pathogenic (1)Likely Pathogenic (3)0.000000
41. c.611G>T p.R204Lmissense 4VUS (4)0.000000
42. c.2788G>A p.E930Kmissense 4Likely Pathogenic (1)Pathogenic (3)0.000000
43. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
44. c.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
45. c.958G>A p.V320Mmissense 4VUS (4)0.000008
46. c.3475G>A p.V1159Mmissense 4VUS (4)0.000000
47. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
48. c.1063G>T p.A355Smissense 3VUS (3)0.000000
49. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
50. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
51. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
52. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
53. c.2631G>C p.M877Imissense 3VUS (3)0.000000
54. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000
55. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
56. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
57. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
58. c.1856C>T p.T619Imissense 3VUS (3)0.000033
59. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
60. c.1324C>T p.R442Cmissense 3Likely Pathogenic (2)Pathogenic (1)0.000008
61. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
62. c.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
63. c.3134G>T p.R1045Lmissense 3VUS (1)Likely Pathogenic (2)0.000016
64. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
65. c.611G>A p.R204Hmissense 3VUS (3)0.000000
66. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
67. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
68. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
69. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
70. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
71. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
72. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
73. c.1182C>A p.D394Emissense 2VUS (2)0.000000
74. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
75. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
76. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
77. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
78. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
79. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
80. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
81. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
82. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
83. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
84. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
85. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
86. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
87. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
88. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
89. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
90. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
91. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
92. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
93. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
94. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
95. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
96. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
97. c.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
98. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
99. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
100. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
101. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
102. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
103. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
104. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
105. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
106. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
107. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
108. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
109. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
110. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
111. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
112. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
113. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
114. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
115. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
116. c.345C>A p.Y115Xnonsense 2VUS (2)0.000000
117. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
118. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
119. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
120. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
121. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
122. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
123. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
124. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
125. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
126. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
127. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
128. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
129. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
130. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
131. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
132. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
133. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
134. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
135. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
136. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
137. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
138. c.2783A>C p.D928Amissense 1VUS (1)0.000000
139. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
140. c.1013T>C p.V338Amissense 1VUS (1)0.000000
141. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
142. c.677C>T p.A226Vmissense 1VUS (1)0.000000
143. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
144. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
145. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
146. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
147. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
148. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
149. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
150. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
151. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
152. c.968T>C p.I323Tmissense 1VUS (1)0.000075
153. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
154. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
155. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
156. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
157. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
158. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
159. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
160. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
161. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
162. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
163. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
164. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
165. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
166. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
167. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
168. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
169. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
170. c.161G>A p.R54Qmissense 1VUS (1)0.000016
171. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
172. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
173. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
174. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
175. c.710G>A p.R237Qmissense 1VUS (1)0.000000
176. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
177. c.298G>A p.A100Tmissense 1VUS (1)0.000016
178. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
179. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
180. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
181. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
182. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
183. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
184. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
185. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
186. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
187. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
188. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
189. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
190. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
191. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
192. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
193. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
194. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
195. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
196. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
197. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
198. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
199. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
200. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
201. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
202. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
203. c.135G>T p.E45Dmissense 1VUS (1)0.000000
204. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
205. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
206. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
207. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
208. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
209. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
210. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
211. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
212. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
213. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
214. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
215. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
216. c.500C>T p.T167Imissense 1VUS (1)0.000000
217. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
218. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
219. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
220. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
221. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
222. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
223. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
224. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
225. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
226. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
227. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
228. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
229. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
230. c.115G>A p.V39Mmissense 1VUS (1)0.000057
231. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
232. c.904C>A p.L302Mmissense 1VUS (1)0.000000
233. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
234. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
235. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
236. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
237. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
238. c.1477_1478delAT frameshift 1VUS (1)0.000000
239. c.595G>A p.A199Tmissense 1VUS (1)0.000000
240. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
241. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
242. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
243. c.2462T>C p.F821Smissense 1VUS (1)0.000000
244. c.2700T>A p.D900Emissense 1VUS (1)0.000000
245. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
246. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
247. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
248. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
249. c.964T>A p.S322Tmissense 1VUS (1)0.000000
250. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
251. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
252. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
253. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
254. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
255. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
256. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
257. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
258. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
259. c.1346C>T p.T449Imissense 1VUS (1)0.000000
260. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
261. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
262. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
263. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
264. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
265. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
266. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
267. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
268. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
269. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
270. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
271. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
272. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
273. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
274. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
275. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
276. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
277. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
278. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
279. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
280. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
281. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
282. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
283. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
284. c.809A>G p.K270Rmissense 1VUS (1)0.000000
285. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
286. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
287. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
288. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
289. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
290. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
291. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
292. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
293. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
294. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
295. c.137T>G p.F46Cmissense 1VUS (1)0.000000
296. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
297. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
298. c.5110C>T p.Q1704Xnonsense 1VUS (1)0.000000
299. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
300. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
301. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
302. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
303. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
304. c.2631G>A p.M877Imissense 1VUS (1)0.000000
305. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
306. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
307. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
308. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
309. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
310. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
311. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
312. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
313. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
314. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
315. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
316. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
317. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
318. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
319. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
320. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
321. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
322. c.4000C>T p.Q1334Xnonsense 1VUS (1)0.000000
323. c.793A>T p.T265Smissense 1VUS (1)0.000000
324. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
325. c.2570C>T p.T857Imissense 1VUS (1)0.000000
326. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
327. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
328. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
329. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
330. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
331. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
332. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
333. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
334. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
335. c.2432T>C p.L811Pmissense 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.