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.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.2167C>T p.R723Cmissense 13Pathogenic (4)Pathogenic (9)0.000024
12. c.1063G>A p.A355Tmissense 13Likely Pathogenic (10)VUS favour pathogenic (3)0.000000
13. c.2221G>T p.G741Wmissense 13Pathogenic (8)Pathogenic (5)0.000000
14. c.4130C>T p.T1377Mmissense 12VUS (5)VUS favour pathogenic (7)0.000000
15. c.2156G>A p.R719Qmissense 12Pathogenic (1)Pathogenic (11)0.000000
16. c.2681A>G p.E894Gmissense 11Likely Pathogenic (7)Likely Pathogenic (4)0.000000
17. c.2717A>G p.D906Gmissense 11Likely Pathogenic (7)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.1987C>T p.R663Cmissense 8Likely Pathogenic (8)0.000000
23. c.2348G>A p.R783Hmissense 8Likely Pathogenic (8)0.000016
24. c.4135G>A p.A1379Tmissense 7Pathogenic (5)Pathogenic (2)0.000000
25. c.428G>A p.R143Qmissense 7Likely Pathogenic (2)Likely Pathogenic (5)0.000008
26. c.2302G>A p.G768Rmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
27. c.3158G>A p.R1053Qmissense 7Likely Pathogenic (6)Likely Pathogenic (1)0.000074
28. c.715G>A p.D239Nmissense 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.343T>C p.Y115Hmissense 5Likely Pathogenic (4)Pathogenic (1)0.000008
35. c.1142C>A p.A381Dmissense 5Likely Pathogenic (5)0.000000
36. c.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
37. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
38. c.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)0.000000
39. c.611G>T p.R204Lmissense 4VUS (4)0.000000
40. c.958G>A p.V320Mmissense 4VUS (4)0.000008
41. c.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
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.3133C>T p.R1045Cmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000016
46. c.3475G>A p.V1159Mmissense 4VUS (4)0.000000
47. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
48. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
49. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
50. c.5380C>A p.Q1794Kmissense 3VUS (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.3134G>T p.R1045Lmissense 3VUS (1)Likely Pathogenic (2)0.000016
55. c.1324C>T p.R442Cmissense 3Likely Pathogenic (2)Pathogenic (1)0.000008
56. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
57. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
58. c.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
59. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
60. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000
61. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
62. c.1063G>T p.A355Smissense 3VUS (3)0.000000
63. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
64. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
65. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
66. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
67. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
68. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
69. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
70. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
71. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
72. c.345C>A p.Y115Xnonsense 2VUS (2)0.000000
73. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
74. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
75. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
76. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
77. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
78. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
79. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
80. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
81. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
82. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
83. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
84. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
85. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
86. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
87. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
88. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
89. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
90. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
91. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
92. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
93. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
94. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
95. c.1182C>A p.D394Emissense 2VUS (2)0.000000
96. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
97. c.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
98. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
99. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
100. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
101. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
102. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
103. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
104. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
105. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
106. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
107. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
108. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
109. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
110. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
111. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
112. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
113. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
114. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
115. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
116. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
117. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
118. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
119. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
120. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
121. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
122. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
123. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
124. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
125. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
126. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
127. c.5110C>T p.Q1704Xnonsense 1VUS (1)0.000000
128. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
129. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
130. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
131. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
132. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
133. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
134. c.964T>A p.S322Tmissense 1VUS (1)0.000000
135. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
136. c.1013T>C p.V338Amissense 1VUS (1)0.000000
137. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
138. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
139. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
140. c.161G>A p.R54Qmissense 1VUS (1)0.000016
141. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
142. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
143. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
144. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
145. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
146. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
147. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
148. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
149. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
150. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
151. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
152. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
153. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
154. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
155. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
156. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
157. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
158. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
159. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
160. c.809A>G p.K270Rmissense 1VUS (1)0.000000
161. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
162. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
163. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
164. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
165. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
166. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
167. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
168. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
169. c.1346C>T p.T449Imissense 1VUS (1)0.000000
170. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
171. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
172. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
173. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
174. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
175. c.137T>G p.F46Cmissense 1VUS (1)0.000000
176. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
177. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
178. c.2700T>A p.D900Emissense 1VUS (1)0.000000
179. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
180. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
181. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
182. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
183. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
184. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
185. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
186. c.2570C>T p.T857Imissense 1VUS (1)0.000000
187. c.793A>T p.T265Smissense 1VUS (1)0.000000
188. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
189. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
190. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
191. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
192. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
193. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
194. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
195. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
196. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
197. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
198. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
199. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
200. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
201. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
202. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
203. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
204. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
205. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
206. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
207. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
208. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
209. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
210. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
211. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
212. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
213. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
214. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
215. c.677C>T p.A226Vmissense 1VUS (1)0.000000
216. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
217. c.115G>A p.V39Mmissense 1VUS (1)0.000057
218. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
219. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
220. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
221. c.2783A>C p.D928Amissense 1VUS (1)0.000000
222. c.1477_1478delAT frameshift 1VUS (1)0.000000
223. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
224. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
225. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
226. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
227. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
228. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
229. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
230. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
231. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
232. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
233. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
234. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
235. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
236. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
237. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
238. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
239. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
240. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
241. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
242. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
243. c.298G>A p.A100Tmissense 1VUS (1)0.000016
244. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
245. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
246. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
247. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
248. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
249. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
250. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
251. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
252. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
253. c.2631G>A p.M877Imissense 1VUS (1)0.000000
254. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
255. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
256. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
257. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
258. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
259. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
260. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
261. c.710G>A p.R237Qmissense 1VUS (1)0.000000
262. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
263. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
264. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
265. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
266. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
267. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
268. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
269. c.135G>T p.E45Dmissense 1VUS (1)0.000000
270. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
271. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
272. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
273. c.500C>T p.T167Imissense 1VUS (1)0.000000
274. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
275. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
276. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
277. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
278. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
279. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
280. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
281. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
282. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
283. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
284. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
285. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
286. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
287. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
288. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
289. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
290. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
291. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
292. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
293. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
294. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
295. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
296. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
297. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
298. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
299. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
300. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
301. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
302. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
303. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
304. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
305. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
306. c.595G>A p.A199Tmissense 1VUS (1)0.000000
307. c.968T>C p.I323Tmissense 1VUS (1)0.000075
308. c.2462T>C p.F821Smissense 1VUS (1)0.000000
309. c.904C>A p.L302Mmissense 1VUS (1)0.000000
310. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
311. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
312. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
313. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
314. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
315. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
316. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
317. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
318. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
319. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
320. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
321. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
322. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
323. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
324. c.4000C>T p.Q1334Xnonsense 1VUS (1)0.000000
325. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
326. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
327. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
328. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
329. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
330. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
331. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
332. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
333. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
334. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
335. c.1544T>C p.M515Tmissense 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.