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.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.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.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.2207T>C p.I736Tmissense 11Pathogenic (6)Likely Pathogenic (5)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.2348G>A p.R783Hmissense 8Likely Pathogenic (8)0.000016
23. c.1987C>T p.R663Cmissense 8Likely Pathogenic (8)0.000000
24. c.2146G>A p.G716Rmissense 7Pathogenic (7)0.000000
25. c.428G>A p.R143Qmissense 7Likely Pathogenic (2)Likely Pathogenic (5)0.000008
26. c.3158G>A p.R1053Qmissense 7Likely Pathogenic (6)Likely Pathogenic (1)0.000074
27. c.715G>A p.D239Nmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
28. c.4135G>A p.A1379Tmissense 7Pathogenic (5)Pathogenic (2)0.000000
29. c.2302G>A p.G768Rmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
30. c.2779G>A p.E927Kmissense 6VUS (3)VUS favour pathogenic (3)0.000000
31. c.4066G>A p.E1356Kmissense 6Likely Pathogenic (5)Likely Pathogenic (1)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.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
37. c.958G>A p.V320Mmissense 4VUS (4)0.000008
38. c.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)0.000000
39. c.788T>C p.I263Tmissense 4Pathogenic (1)Likely Pathogenic (3)0.000000
40. c.3133C>T p.R1045Cmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000016
41. c.2788G>A p.E930Kmissense 4Likely Pathogenic (1)Pathogenic (3)0.000000
42. c.4817G>A p.R1606Hmissense 4VUS (1)VUS (3)0.000049
43. c.3475G>A p.V1159Mmissense 4VUS (4)0.000000
44. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
45. c.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
46. c.611G>T p.R204Lmissense 4VUS (4)0.000000
47. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
48. c.1856C>T p.T619Imissense 3VUS (3)0.000033
49. c.611G>A p.R204Hmissense 3VUS (3)0.000000
50. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
51. c.2631G>C p.M877Imissense 3VUS (3)0.000000
52. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
53. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
54. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
55. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
56. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
57. c.1063G>T p.A355Smissense 3VUS (3)0.000000
58. c.3134G>T p.R1045Lmissense 3VUS (1)Likely Pathogenic (2)0.000016
59. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
60. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
61. c.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
62. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000
63. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
64. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
65. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
66. c.1324C>T p.R442Cmissense 3Likely Pathogenic (2)Pathogenic (1)0.000008
67. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
68. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
69. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
70. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
71. c.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
72. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
73. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
74. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
75. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
76. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
77. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
78. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
79. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
80. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
81. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
82. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
83. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
84. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
85. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
86. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
87. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
88. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
89. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
90. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
91. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
92. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
93. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
94. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
95. c.1182C>A p.D394Emissense 2VUS (2)0.000000
96. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
97. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
98. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
99. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
100. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
101. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
102. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
103. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
104. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
105. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
106. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
107. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
108. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
109. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
110. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
111. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
112. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
113. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
114. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
115. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
116. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
117. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
118. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
119. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
120. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
121. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
122. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
123. c.345C>A p.Y115Xnonsense 2VUS (2)0.000000
124. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
125. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
126. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
127. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
128. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
129. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
130. c.809A>G p.K270Rmissense 1VUS (1)0.000000
131. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
132. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
133. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
134. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
135. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
136. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
137. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
138. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
139. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
140. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
141. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
142. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
143. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
144. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
145. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
146. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
147. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
148. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
149. c.137T>G p.F46Cmissense 1VUS (1)0.000000
150. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
151. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
152. c.2700T>A p.D900Emissense 1VUS (1)0.000000
153. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
154. c.1346C>T p.T449Imissense 1VUS (1)0.000000
155. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
156. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
157. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
158. c.2570C>T p.T857Imissense 1VUS (1)0.000000
159. c.793A>T p.T265Smissense 1VUS (1)0.000000
160. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
161. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
162. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
163. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
164. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
165. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
166. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
167. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
168. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
169. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
170. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
171. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
172. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
173. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
174. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
175. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
176. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
177. c.968T>C p.I323Tmissense 1VUS (1)0.000075
178. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
179. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
180. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
181. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
182. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
183. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
184. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
185. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
186. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
187. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
188. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
189. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
190. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
191. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
192. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
193. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
194. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
195. c.2783A>C p.D928Amissense 1VUS (1)0.000000
196. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
197. c.677C>T p.A226Vmissense 1VUS (1)0.000000
198. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
199. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
200. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
201. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
202. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
203. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
204. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
205. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
206. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
207. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
208. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
209. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
210. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
211. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
212. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
213. c.1013T>C p.V338Amissense 1VUS (1)0.000000
214. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
215. c.161G>A p.R54Qmissense 1VUS (1)0.000016
216. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
217. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
218. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
219. c.298G>A p.A100Tmissense 1VUS (1)0.000016
220. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
221. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
222. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
223. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
224. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
225. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
226. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
227. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
228. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
229. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
230. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
231. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
232. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
233. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
234. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
235. c.2631G>A p.M877Imissense 1VUS (1)0.000000
236. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
237. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
238. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
239. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
240. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
241. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
242. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
243. c.710G>A p.R237Qmissense 1VUS (1)0.000000
244. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
245. c.500C>T p.T167Imissense 1VUS (1)0.000000
246. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
247. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
248. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
249. c.135G>T p.E45Dmissense 1VUS (1)0.000000
250. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
251. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
252. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
253. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
254. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
255. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
256. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
257. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
258. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
259. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
260. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
261. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
262. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
263. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
264. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
265. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
266. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
267. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
268. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
269. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
270. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
271. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
272. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
273. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
274. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
275. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
276. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
277. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
278. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
279. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
280. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
281. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
282. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
283. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
284. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
285. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
286. c.595G>A p.A199Tmissense 1VUS (1)0.000000
287. c.2462T>C p.F821Smissense 1VUS (1)0.000000
288. c.904C>A p.L302Mmissense 1VUS (1)0.000000
289. c.4000C>T p.Q1334Xnonsense 1VUS (1)0.000000
290. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
291. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
292. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
293. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
294. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
295. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
296. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
297. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
298. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
299. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
300. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
301. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
302. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
303. c.1477_1478delAT frameshift 1VUS (1)0.000000
304. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
305. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
306. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
307. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
308. c.115G>A p.V39Mmissense 1VUS (1)0.000057
309. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
310. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
311. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
312. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
313. c.5110C>T p.Q1704Xnonsense 1VUS (1)0.000000
314. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
315. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
316. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
317. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
318. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
319. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
320. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
321. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
322. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
323. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
324. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
325. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
326. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
327. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
328. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
329. c.964T>A p.S322Tmissense 1VUS (1)0.000000
330. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
331. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
332. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
333. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
334. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
335. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057

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.