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.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
2. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
3. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
4. c.115G>A p.V39Mmissense 1VUS (1)0.000057
5. c.135G>T p.E45Dmissense 1VUS (1)0.000000
6. c.137T>G p.F46Cmissense 1VUS (1)0.000000
7. c.161G>A p.R54Qmissense 1VUS (1)0.000016
8. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
9. c.298G>A p.A100Tmissense 1VUS (1)0.000016
10. c.343T>C p.Y115Hmissense 5Likely Pathogenic (4)Pathogenic (1)0.000008
11. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
12. c.428G>A p.R143Qmissense 7Likely Pathogenic (2)Likely Pathogenic (5)0.000008
13. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
14. c.500C>T p.T167Imissense 1VUS (1)0.000000
15. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
16. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
17. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
18. c.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
19. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
20. c.595G>A p.A199Tmissense 1VUS (1)0.000000
21. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
22. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
23. c.611G>T p.R204Lmissense 4VUS (4)0.000000
24. c.611G>A p.R204Hmissense 3VUS (3)0.000000
25. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
26. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
27. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
28. c.677C>T p.A226Vmissense 1VUS (1)0.000000
29. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
30. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
31. c.710G>A p.R237Qmissense 1VUS (1)0.000000
32. c.715G>A p.D239Nmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
33. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
34. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
35. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
36. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
37. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
38. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
39. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
40. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
41. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
42. c.788T>C p.I263Tmissense 4Pathogenic (1)Likely Pathogenic (3)0.000000
43. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
44. c.793A>T p.T265Smissense 1VUS (1)0.000000
45. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
46. c.809A>G p.K270Rmissense 1VUS (1)0.000000
47. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
48. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
49. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
50. c.904C>A p.L302Mmissense 1VUS (1)0.000000
51. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
52. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
53. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
54. c.958G>A p.V320Mmissense 4VUS (4)0.000008
55. c.964T>A p.S322Tmissense 1VUS (1)0.000000
56. c.968T>C p.I323Tmissense 1VUS (1)0.000075
57. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
58. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
59. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
60. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
61. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
62. c.1013T>C p.V338Amissense 1VUS (1)0.000000
63. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
64. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
65. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
66. c.1063G>A p.A355Tmissense 13Likely Pathogenic (10)VUS favour pathogenic (3)0.000000
67. c.1063G>T p.A355Smissense 3VUS (3)0.000000
68. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
69. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
70. c.1142C>A p.A381Dmissense 5Likely Pathogenic (5)0.000000
71. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
72. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
73. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
74. c.1182C>A p.D394Emissense 2VUS (2)0.000000
75. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
76. c.1207C>T p.R403Wmissense 10Pathogenic (6)Pathogenic (4)0.000000
77. c.1208G>A p.R403Qmissense 15Pathogenic (4)Pathogenic (11)0.000000
78. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
79. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
80. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
81. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
82. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
83. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
84. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
85. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
86. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
87. c.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
88. c.1324C>T p.R442Cmissense 3Likely Pathogenic (2)Pathogenic (1)0.000008
89. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
90. c.1346C>T p.T449Imissense 1VUS (1)0.000000
91. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
92. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
93. c.1357C>T p.R453Cmissense 23Pathogenic (10)Pathogenic (13)0.000000
94. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
95. c.1370T>C p.I457Tmissense 6Likely Pathogenic (3)Likely Pathogenic (3)0.000008
96. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
97. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
98. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
99. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
100. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
101. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
102. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
103. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
104. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
105. c.1491G>T p.E497Dmissense 5Likely Pathogenic (5)0.000000
106. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
107. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
108. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
109. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
110. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
111. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
112. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
113. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
114. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
115. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
116. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
117. c.1750G>C p.G584Rmissense 22Likely Pathogenic (22)0.000000
118. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
119. c.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
120. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
121. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
122. c.1816G>A p.V606Mmissense 22Pathogenic (13)Pathogenic (9)0.000000
123. c.1856C>T p.T619Imissense 3VUS (3)0.000033
124. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
125. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
126. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
127. c.1987C>T p.R663Cmissense 8Likely Pathogenic (8)0.000000
128. c.1988G>A p.R663Hmissense 37Pathogenic (17)Pathogenic (20)0.000016
129. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
130. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
131. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
132. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
133. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
134. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
135. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
136. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
137. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
138. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
139. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
140. c.2146G>A p.G716Rmissense 7Pathogenic (7)0.000000
141. c.2155C>T p.R719Wmissense 10Pathogenic (5)Pathogenic (5)0.000000
142. c.2156G>A p.R719Qmissense 12Pathogenic (1)Pathogenic (11)0.000000
143. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
144. c.2167C>T p.R723Cmissense 13Pathogenic (4)Pathogenic (9)0.000024
145. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
146. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
147. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
148. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
149. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
150. c.2207T>C p.I736Tmissense 11Pathogenic (6)Likely Pathogenic (5)0.000000
151. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
152. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
153. c.2221G>T p.G741Wmissense 13Pathogenic (8)Pathogenic (5)0.000000
154. c.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)0.000000
155. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
156. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
157. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
158. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
159. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
160. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
161. c.2302G>A p.G768Rmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
162. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
163. c.2348G>A p.R783Hmissense 8Likely Pathogenic (8)0.000016
164. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
165. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
166. c.2389G>A p.A797Tmissense 36Pathogenic (24)Pathogenic (12)0.000032
167. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
168. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
169. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
170. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
171. c.2462T>C p.F821Smissense 1VUS (1)0.000000
172. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
173. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
174. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
175. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
176. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
177. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
178. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
179. c.2539A>G p.K847Emissense 14Likely Pathogenic (10)Likely Pathogenic (4)0.000000
180. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
181. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
182. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
183. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
184. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
185. c.2570C>T p.T857Imissense 1VUS (1)0.000000
186. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
187. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
188. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
189. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
190. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
191. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
192. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
193. c.2609G>A p.R870Hmissense 16Pathogenic (13)Pathogenic (3)0.000000
194. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000
195. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
196. c.2631G>C p.M877Imissense 3VUS (3)0.000000
197. c.2631G>A p.M877Imissense 1VUS (1)0.000000
198. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
199. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
200. c.2681A>G p.E894Gmissense 11Likely Pathogenic (7)Likely Pathogenic (4)0.000000
201. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
202. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
203. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
204. c.2700T>A p.D900Emissense 1VUS (1)0.000000
205. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
206. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
207. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
208. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
209. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
210. c.2717A>G p.D906Gmissense 11Likely Pathogenic (7)Pathogenic (4)0.000000
211. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
212. c.2722C>G p.L908Vmissense 21Pathogenic (5)Pathogenic (16)0.000000
213. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
214. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
215. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
216. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
217. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
218. c.2770G>A p.E924Kmissense 9Pathogenic (5)Pathogenic (4)0.000000
219. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
220. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
221. c.2779G>A p.E927Kmissense 6VUS (3)VUS favour pathogenic (3)0.000000
222. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
223. c.2783A>C p.D928Amissense 1VUS (1)0.000000
224. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
225. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
226. c.2788G>A p.E930Kmissense 4Likely Pathogenic (1)Pathogenic (3)0.000000
227. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
228. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
229. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
230. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
231. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
232. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
233. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
234. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
235. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
236. c.3133C>T p.R1045Cmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000016
237. c.3134G>T p.R1045Lmissense 3VUS (1)Likely Pathogenic (2)0.000016
238. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
239. c.3158G>A p.R1053Qmissense 7Likely Pathogenic (6)Likely Pathogenic (1)0.000074
240. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
241. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
242. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
243. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
244. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
245. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
246. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
247. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
248. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
249. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
250. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
251. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
252. c.3475G>A p.V1159Mmissense 4VUS (4)0.000000
253. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
254. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
255. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
256. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
257. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
258. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
259. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
260. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
261. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
262. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
263. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
264. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
265. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
266. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
267. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
268. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
269. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
270. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
271. c.4066G>A p.E1356Kmissense 6Likely Pathogenic (5)Likely Pathogenic (1)0.000000
272. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
273. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
274. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
275. c.4130C>T p.T1377Mmissense 12VUS (5)VUS favour pathogenic (7)0.000000
276. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
277. c.4135G>A p.A1379Tmissense 7Pathogenic (5)Pathogenic (2)0.000000
278. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
279. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
280. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
281. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
282. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
283. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
284. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
285. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
286. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
287. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
288. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
289. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
290. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
291. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
292. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
293. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
294. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
295. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
296. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
297. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
298. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
299. c.4817G>A p.R1606Hmissense 4VUS (1)VUS (3)0.000049
300. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
301. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
302. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
303. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
304. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
305. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
306. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
307. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
308. c.5135G>A p.R1712Qmissense 16VUS (8)Likely Pathogenic (8)0.000008
309. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
310. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
311. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
312. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
313. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
314. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
315. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
316. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
317. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
318. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
319. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
320. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
321. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
322. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
323. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
324. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
325. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
326. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
327. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
328. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
329. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
330. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
331. c.5773C>T p.R1925Cmissense 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.