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.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.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.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.2302G>A p.G768Rmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
25. c.2146G>A p.G716Rmissense 7Pathogenic (7)0.000000
26. c.428G>A p.R143Qmissense 7Likely Pathogenic (2)Likely Pathogenic (5)0.000008
27. c.3158G>A p.R1053Qmissense 7Likely Pathogenic (6)Likely Pathogenic (1)0.000074
28. c.4135G>A p.A1379Tmissense 7Pathogenic (5)Pathogenic (2)0.000000
29. c.715G>A p.D239Nmissense 7Likely Pathogenic (3)Likely Pathogenic (4)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.1142C>A p.A381Dmissense 5Likely Pathogenic (5)0.000000
35. c.343T>C p.Y115Hmissense 5Likely Pathogenic (4)Pathogenic (1)0.000008
36. c.788T>C p.I263Tmissense 4Pathogenic (1)Likely Pathogenic (3)0.000000
37. c.2788G>A p.E930Kmissense 4Likely Pathogenic (1)Pathogenic (3)0.000000
38. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
39. c.4817G>A p.R1606Hmissense 4VUS (1)VUS (3)0.000049
40. c.3475G>A p.V1159Mmissense 4VUS (4)0.000000
41. c.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
42. c.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
43. c.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)0.000000
44. c.611G>T p.R204Lmissense 4VUS (4)0.000000
45. c.958G>A p.V320Mmissense 4VUS (4)0.000008
46. c.3133C>T p.R1045Cmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000016
47. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
48. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
49. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
50. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
51. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
52. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
53. c.1063G>T p.A355Smissense 3VUS (3)0.000000
54. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
55. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
56. c.1324C>T p.R442Cmissense 3Likely Pathogenic (2)Pathogenic (1)0.000008
57. c.3134G>T p.R1045Lmissense 3VUS (1)Likely Pathogenic (2)0.000016
58. c.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
59. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000
60. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
61. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
62. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
63. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
64. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
65. c.1856C>T p.T619Imissense 3VUS (3)0.000033
66. c.611G>A p.R204Hmissense 3VUS (3)0.000000
67. c.2631G>C p.M877Imissense 3VUS (3)0.000000
68. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
69. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
70. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
71. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
72. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
73. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
74. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
75. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
76. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
77. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
78. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
79. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
80. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
81. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
82. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
83. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
84. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
85. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
86. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
87. c.1182C>A p.D394Emissense 2VUS (2)0.000000
88. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
89. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
90. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
91. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
92. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
93. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
94. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
95. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
96. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
97. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
98. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
99. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
100. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
101. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
102. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
103. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
104. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
105. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
106. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
107. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
108. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
109. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
110. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
111. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
112. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
113. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
114. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
115. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
116. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
117. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
118. c.345C>A p.Y115Xnonsense 2VUS (2)0.000000
119. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
120. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
121. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
122. c.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
123. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
124. c.137T>G p.F46Cmissense 1VUS (1)0.000000
125. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
126. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
127. c.2700T>A p.D900Emissense 1VUS (1)0.000000
128. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
129. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
130. c.1346C>T p.T449Imissense 1VUS (1)0.000000
131. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
132. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
133. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
134. c.2570C>T p.T857Imissense 1VUS (1)0.000000
135. c.793A>T p.T265Smissense 1VUS (1)0.000000
136. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
137. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
138. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
139. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
140. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
141. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
142. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
143. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
144. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
145. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
146. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
147. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
148. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
149. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
150. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
151. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
152. c.968T>C p.I323Tmissense 1VUS (1)0.000075
153. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
154. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
155. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
156. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
157. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
158. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
159. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
160. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
161. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
162. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
163. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
164. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
165. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
166. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
167. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
168. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
169. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
170. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
171. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
172. c.2783A>C p.D928Amissense 1VUS (1)0.000000
173. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
174. c.677C>T p.A226Vmissense 1VUS (1)0.000000
175. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
176. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
177. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
178. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
179. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
180. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
181. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
182. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
183. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
184. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
185. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
186. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
187. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
188. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
189. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
190. c.298G>A p.A100Tmissense 1VUS (1)0.000016
191. c.1013T>C p.V338Amissense 1VUS (1)0.000000
192. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
193. c.161G>A p.R54Qmissense 1VUS (1)0.000016
194. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
195. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
196. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
197. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
198. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
199. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
200. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
201. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
202. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
203. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
204. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
205. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
206. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
207. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
208. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
209. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
210. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
211. c.2631G>A p.M877Imissense 1VUS (1)0.000000
212. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
213. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
214. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
215. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
216. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
217. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
218. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
219. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
220. c.710G>A p.R237Qmissense 1VUS (1)0.000000
221. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
222. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
223. c.500C>T p.T167Imissense 1VUS (1)0.000000
224. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
225. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
226. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
227. c.135G>T p.E45Dmissense 1VUS (1)0.000000
228. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
229. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
230. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
231. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
232. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
233. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
234. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
235. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
236. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
237. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
238. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
239. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
240. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
241. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
242. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
243. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
244. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
245. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
246. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
247. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
248. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
249. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
250. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
251. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
252. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
253. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
254. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
255. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
256. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
257. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
258. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
259. c.2462T>C p.F821Smissense 1VUS (1)0.000000
260. c.904C>A p.L302Mmissense 1VUS (1)0.000000
261. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
262. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
263. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
264. c.1228T>G p.Y410Dmissense 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.4000C>T p.Q1334Xnonsense 1VUS (1)0.000000
268. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
269. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
270. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
271. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
272. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
273. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
274. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
275. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
276. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
277. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
278. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
279. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
280. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
281. c.1477_1478delAT frameshift 1VUS (1)0.000000
282. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
283. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
284. c.115G>A p.V39Mmissense 1VUS (1)0.000057
285. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
286. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
287. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
288. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
289. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
290. c.5110C>T p.Q1704Xnonsense 1VUS (1)0.000000
291. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
292. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
293. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
294. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
295. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
296. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
297. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
298. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
299. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
300. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
301. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
302. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
303. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
304. c.964T>A p.S322Tmissense 1VUS (1)0.000000
305. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
306. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
307. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
308. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
309. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
310. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
311. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
312. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
313. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
314. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
315. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
316. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
317. c.809A>G p.K270Rmissense 1VUS (1)0.000000
318. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
319. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
320. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
321. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
322. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
323. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
324. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
325. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
326. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
327. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
328. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
329. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
330. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
331. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
332. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
333. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
334. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
335. c.4436C>T p.T1479Imissense 1VUS favour 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.