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