MYH7 non-truncating variants in HCM cohorts

MYH7 gene summary
Overview of MYH7 in HCM

The table below lists the 864 rare (MAF<0.0001 in ExAC) non-truncating MYH7 variants identified in a cohort of 6112 HCM patients (3200 patients from OMGL, 2912 patients from LMM). When this rare variant frequency of 0.14136 is compared with a background population rate of 0.01350, there is a statistically significant case excess of 0.12786 (p<0.0001), which suggests that approximately 778 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.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.1063G>A p.A355Tmissense 13Likely Pathogenic (10)VUS favour pathogenic (3)0.000000
12. c.2221G>T p.G741Wmissense 13Pathogenic (8)Pathogenic (5)0.000000
13. c.2167C>T p.R723Cmissense 13Pathogenic (4)Pathogenic (9)0.000024
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.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.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.4135G>A p.A1379Tmissense 7Pathogenic (5)Pathogenic (2)0.000000
25. c.715G>A p.D239Nmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
26. c.2302G>A p.G768Rmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
27. c.2146G>A p.G716Rmissense 7Pathogenic (7)0.000000
28. c.428G>A p.R143Qmissense 7Likely Pathogenic (2)Likely Pathogenic (5)0.000008
29. c.3158G>A p.R1053Qmissense 7Likely Pathogenic (6)Likely Pathogenic (1)0.000074
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.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.3133C>T p.R1045Cmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000016
37. c.788T>C p.I263Tmissense 4Pathogenic (1)Likely Pathogenic (3)0.000000
38. c.4817G>A p.R1606Hmissense 4VUS (1)VUS (3)0.000049
39. c.2788G>A p.E930Kmissense 4Likely Pathogenic (1)Pathogenic (3)0.000000
40. c.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
41. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
42. c.958G>A p.V320Mmissense 4VUS (4)0.000008
43. c.3475G>A p.V1159Mmissense 4VUS (4)0.000000
44. c.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
45. c.611G>T p.R204Lmissense 4VUS (4)0.000000
46. c.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)0.000000
47. c.2631G>C p.M877Imissense 3VUS (3)0.000000
48. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
49. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
50. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
51. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
52. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
53. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
54. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
55. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
56. c.1856C>T p.T619Imissense 3VUS (3)0.000033
57. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
58. c.611G>A p.R204Hmissense 3VUS (3)0.000000
59. c.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
60. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
61. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
62. c.1063G>T p.A355Smissense 3VUS (3)0.000000
63. c.1324C>T p.R442Cmissense 3Likely Pathogenic (2)Pathogenic (1)0.000008
64. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000
65. c.3134G>T p.R1045Lmissense 3VUS (1)Likely Pathogenic (2)0.000016
66. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
67. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
68. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
69. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
70. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
71. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
72. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
73. c.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
74. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
75. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
76. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
77. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
78. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
79. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
80. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
81. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
82. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
83. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
84. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
85. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
86. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
87. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
88. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
89. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
90. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
91. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
92. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
93. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
94. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
95. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
96. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
97. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
98. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
99. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
100. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
101. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
102. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
103. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
104. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
105. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
106. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
107. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
108. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
109. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
110. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
111. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
112. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
113. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
114. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
115. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
116. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
117. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
118. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
119. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
120. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
121. c.1182C>A p.D394Emissense 2VUS (2)0.000000
122. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
123. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
124. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
125. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
126. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
127. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
128. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
129. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
130. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
131. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
132. c.964T>A p.S322Tmissense 1VUS (1)0.000000
133. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
134. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
135. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
136. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
137. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
138. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
139. c.2570C>T p.T857Imissense 1VUS (1)0.000000
140. c.731T>G p.F244Cmissense 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.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
144. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
145. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
146. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
147. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
148. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
149. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
150. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
151. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
152. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
153. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
154. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
155. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
156. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
157. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
158. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
159. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
160. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
161. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
162. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
163. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
164. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
165. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
166. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
167. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
168. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
169. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
170. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
171. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
172. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
173. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
174. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
175. c.2700T>A p.D900Emissense 1VUS (1)0.000000
176. c.1346C>T p.T449Imissense 1VUS (1)0.000000
177. c.2783A>C p.D928Amissense 1VUS (1)0.000000
178. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
179. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
180. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
181. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
182. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
183. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
184. c.793A>T p.T265Smissense 1VUS (1)0.000000
185. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
186. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
187. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
188. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
189. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
190. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
191. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
192. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
193. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
194. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
195. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
196. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
197. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
198. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
199. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
200. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
201. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
202. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
203. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
204. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
205. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
206. c.809A>G p.K270Rmissense 1VUS (1)0.000000
207. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
208. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
209. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
210. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
211. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
212. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
213. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
214. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
215. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
216. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
217. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
218. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
219. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
220. c.2631G>A p.M877Imissense 1VUS (1)0.000000
221. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
222. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
223. c.677C>T p.A226Vmissense 1VUS (1)0.000000
224. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
225. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
226. c.710G>A p.R237Qmissense 1VUS (1)0.000000
227. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
228. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
229. c.135G>T p.E45Dmissense 1VUS (1)0.000000
230. c.1013T>C p.V338Amissense 1VUS (1)0.000000
231. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
232. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
233. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
234. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
235. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
236. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
237. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
238. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
239. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
240. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
241. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
242. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
243. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
244. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
245. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
246. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
247. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
248. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
249. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
250. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
251. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
252. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
253. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
254. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
255. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
256. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
257. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
258. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
259. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
260. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
261. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
262. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
263. c.500C>T p.T167Imissense 1VUS (1)0.000000
264. c.2462T>C p.F821Smissense 1VUS (1)0.000000
265. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
266. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
267. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
268. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
269. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
270. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
271. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
272. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
273. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
274. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
275. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
276. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
277. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
278. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
279. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
280. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
281. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
282. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
283. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
284. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
285. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
286. c.298G>A p.A100Tmissense 1VUS (1)0.000016
287. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
288. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
289. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
290. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
291. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
292. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
293. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
294. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
295. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
296. c.595G>A p.A199Tmissense 1VUS (1)0.000000
297. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
298. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
299. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
300. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
301. c.904C>A p.L302Mmissense 1VUS (1)0.000000
302. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
303. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
304. c.137T>G p.F46Cmissense 1VUS (1)0.000000
305. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
306. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
307. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
308. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
309. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
310. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
311. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
312. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
313. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
314. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
315. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
316. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
317. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
318. c.968T>C p.I323Tmissense 1VUS (1)0.000075
319. c.115G>A p.V39Mmissense 1VUS (1)0.000057
320. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
321. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
322. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
323. c.161G>A p.R54Qmissense 1VUS (1)0.000016
324. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
325. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
326. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
327. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
328. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
329. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
330. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
331. c.5172C>G p.I1724Mmissense 1VUS (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.