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.1750G>C p.G584Rmissense 22Likely Pathogenic (22)0.000000
5. c.1816G>A p.V606Mmissense 22Pathogenic (13)Pathogenic (9)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.2717A>G p.D906Gmissense 11Likely Pathogenic (7)Pathogenic (4)0.000000
17. c.2681A>G p.E894Gmissense 11Likely Pathogenic (7)Likely Pathogenic (4)0.000000
18. c.2207T>C p.I736Tmissense 11Pathogenic (6)Likely Pathogenic (5)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.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.4135G>A p.A1379Tmissense 7Pathogenic (5)Pathogenic (2)0.000000
28. c.715G>A p.D239Nmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
29. c.2302G>A p.G768Rmissense 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.2788G>A p.E930Kmissense 4Likely Pathogenic (1)Pathogenic (3)0.000000
37. c.3133C>T p.R1045Cmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000016
38. c.4817G>A p.R1606Hmissense 4VUS (1)VUS (3)0.000049
39. c.3475G>A p.V1159Mmissense 4VUS (4)0.000000
40. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)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.788T>C p.I263Tmissense 4Pathogenic (1)Likely Pathogenic (3)0.000000
47. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
48. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
49. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
50. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
51. c.1063G>T p.A355Smissense 3VUS (3)0.000000
52. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
53. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
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.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
57. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000
58. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
59. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
60. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
61. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
62. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
63. c.1856C>T p.T619Imissense 3VUS (3)0.000033
64. c.611G>A p.R204Hmissense 3VUS (3)0.000000
65. c.2631G>C p.M877Imissense 3VUS (3)0.000000
66. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
67. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
68. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
69. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
70. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
71. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
72. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
73. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
74. c.1182C>A p.D394Emissense 2VUS (2)0.000000
75. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
76. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
77. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
78. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
79. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
80. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
81. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
82. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
83. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
84. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
85. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
86. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
87. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
88. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
89. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
90. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
91. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
92. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
93. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
94. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
95. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
96. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
97. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
98. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
99. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
100. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
101. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
102. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
103. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
104. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
105. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
106. c.345C>A p.Y115Xnonsense 2VUS (2)0.000000
107. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
108. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
109. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
110. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
111. c.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
112. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
113. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
114. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
115. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
116. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
117. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
118. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
119. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
120. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
121. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
122. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
123. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
124. c.968T>C p.I323Tmissense 1VUS (1)0.000075
125. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
126. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
127. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
128. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
129. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
130. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
131. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
132. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
133. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
134. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
135. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
136. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
137. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
138. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
139. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
140. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
141. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
142. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
143. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
144. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
145. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
146. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
147. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
148. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
149. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
150. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
151. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
152. c.2783A>C p.D928Amissense 1VUS (1)0.000000
153. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
154. c.677C>T p.A226Vmissense 1VUS (1)0.000000
155. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
156. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
157. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
158. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
159. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
160. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
161. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
162. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
163. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
164. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
165. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
166. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
167. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
168. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
169. c.298G>A p.A100Tmissense 1VUS (1)0.000016
170. c.1013T>C p.V338Amissense 1VUS (1)0.000000
171. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
172. c.161G>A p.R54Qmissense 1VUS (1)0.000016
173. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
174. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
175. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
176. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
177. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
178. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
179. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
180. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
181. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
182. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
183. c.2631G>A p.M877Imissense 1VUS (1)0.000000
184. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
185. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
186. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
187. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
188. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
189. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
190. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
191. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
192. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
193. c.710G>A p.R237Qmissense 1VUS (1)0.000000
194. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
195. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
196. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
197. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
198. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
199. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
200. c.135G>T p.E45Dmissense 1VUS (1)0.000000
201. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
202. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
203. c.500C>T p.T167Imissense 1VUS (1)0.000000
204. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
205. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
206. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
207. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
208. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
209. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
210. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
211. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
212. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
213. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
214. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
215. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
216. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
217. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
218. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
219. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
220. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
221. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
222. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
223. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
224. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
225. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
226. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
227. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
228. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
229. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
230. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
231. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
232. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
233. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
234. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
235. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
236. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
237. c.2462T>C p.F821Smissense 1VUS (1)0.000000
238. c.904C>A p.L302Mmissense 1VUS (1)0.000000
239. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
240. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
241. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
242. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
243. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
244. c.595G>A p.A199Tmissense 1VUS (1)0.000000
245. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
246. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
247. c.4000C>T p.Q1334Xnonsense 1VUS (1)0.000000
248. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
249. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
250. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
251. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
252. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
253. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
254. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
255. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
256. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
257. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
258. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
259. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
260. c.1477_1478delAT frameshift 1VUS (1)0.000000
261. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
262. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
263. c.115G>A p.V39Mmissense 1VUS (1)0.000057
264. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
265. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
266. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
267. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
268. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
269. c.5110C>T p.Q1704Xnonsense 1VUS (1)0.000000
270. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
271. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
272. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
273. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
274. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
275. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
276. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
277. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
278. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
279. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
280. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
281. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
282. c.964T>A p.S322Tmissense 1VUS (1)0.000000
283. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
284. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
285. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
286. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
287. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
288. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
289. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
290. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
291. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
292. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
293. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
294. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
295. c.809A>G p.K270Rmissense 1VUS (1)0.000000
296. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
297. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
298. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
299. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
300. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
301. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
302. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
303. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
304. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
305. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
306. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
307. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
308. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
309. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
310. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
311. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
312. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
313. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
314. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
315. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
316. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
317. c.137T>G p.F46Cmissense 1VUS (1)0.000000
318. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
319. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
320. c.2700T>A p.D900Emissense 1VUS (1)0.000000
321. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
322. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
323. c.1346C>T p.T449Imissense 1VUS (1)0.000000
324. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
325. c.2570C>T p.T857Imissense 1VUS (1)0.000000
326. c.793A>T p.T265Smissense 1VUS (1)0.000000
327. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
328. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
329. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
330. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
331. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
332. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
333. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
334. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
335. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032

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.