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.1063G>A p.A355Tmissense 13Likely Pathogenic (10)VUS favour pathogenic (3)0.000000
12. c.2221G>T p.G741Wmissense 13Pathogenic (8)Pathogenic (5)0.000000
13. c.2167C>T p.R723Cmissense 13Pathogenic (4)Pathogenic (9)0.000024
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.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.1987C>T p.R663Cmissense 8Likely Pathogenic (8)0.000000
23. c.2348G>A p.R783Hmissense 8Likely Pathogenic (8)0.000016
24. c.4135G>A p.A1379Tmissense 7Pathogenic (5)Pathogenic (2)0.000000
25. c.715G>A p.D239Nmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
26. c.2302G>A p.G768Rmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
27. c.2146G>A p.G716Rmissense 7Pathogenic (7)0.000000
28. c.428G>A p.R143Qmissense 7Likely Pathogenic (2)Likely Pathogenic (5)0.000008
29. c.3158G>A p.R1053Qmissense 7Likely Pathogenic (6)Likely Pathogenic (1)0.000074
30. c.4066G>A p.E1356Kmissense 6Likely Pathogenic (5)Likely Pathogenic (1)0.000000
31. c.2779G>A p.E927Kmissense 6VUS (3)VUS favour pathogenic (3)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.958G>A p.V320Mmissense 4VUS (4)0.000008
37. c.3133C>T p.R1045Cmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000016
38. c.788T>C p.I263Tmissense 4Pathogenic (1)Likely Pathogenic (3)0.000000
39. c.4817G>A p.R1606Hmissense 4VUS (1)VUS (3)0.000049
40. c.2788G>A p.E930Kmissense 4Likely Pathogenic (1)Pathogenic (3)0.000000
41. c.611G>T p.R204Lmissense 4VUS (4)0.000000
42. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
43. c.3475G>A p.V1159Mmissense 4VUS (4)0.000000
44. c.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
45. c.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
46. c.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)0.000000
47. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
48. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
49. c.1856C>T p.T619Imissense 3VUS (3)0.000033
50. c.611G>A p.R204Hmissense 3VUS (3)0.000000
51. c.2631G>C p.M877Imissense 3VUS (3)0.000000
52. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
53. c.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
54. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
55. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000
56. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
57. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
58. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
59. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
60. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
61. c.1063G>T p.A355Smissense 3VUS (3)0.000000
62. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
63. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
64. c.3134G>T p.R1045Lmissense 3VUS (1)Likely Pathogenic (2)0.000016
65. c.1324C>T p.R442Cmissense 3Likely Pathogenic (2)Pathogenic (1)0.000008
66. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
67. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
68. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
69. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
70. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
71. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
72. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
73. c.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
74. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
75. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
76. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
77. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
78. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
79. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
80. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
81. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
82. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
83. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
84. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
85. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
86. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
87. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
88. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
89. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
90. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
91. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
92. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
93. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
94. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
95. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
96. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
97. c.1182C>A p.D394Emissense 2VUS (2)0.000000
98. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
99. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
100. c.345C>A p.Y115Xnonsense 2VUS (2)0.000000
101. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
102. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
103. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
104. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
105. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
106. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
107. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
108. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
109. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
110. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
111. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
112. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
113. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
114. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
115. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
116. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
117. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
118. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
119. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
120. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
121. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
122. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
123. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
124. c.964T>A p.S322Tmissense 1VUS (1)0.000000
125. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
126. c.161G>A p.R54Qmissense 1VUS (1)0.000016
127. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
128. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
129. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
130. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
131. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
132. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
133. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
134. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
135. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
136. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
137. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
138. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
139. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
140. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
141. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
142. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
143. c.710G>A p.R237Qmissense 1VUS (1)0.000000
144. c.809A>G p.K270Rmissense 1VUS (1)0.000000
145. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
146. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
147. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
148. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
149. c.135G>T p.E45Dmissense 1VUS (1)0.000000
150. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
151. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
152. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
153. c.500C>T p.T167Imissense 1VUS (1)0.000000
154. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
155. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
156. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
157. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
158. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
159. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
160. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
161. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
162. c.1346C>T p.T449Imissense 1VUS (1)0.000000
163. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
164. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
165. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
166. c.2700T>A p.D900Emissense 1VUS (1)0.000000
167. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
168. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
169. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
170. c.793A>T p.T265Smissense 1VUS (1)0.000000
171. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
172. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
173. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
174. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
175. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
176. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
177. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
178. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
179. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
180. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
181. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
182. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
183. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
184. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
185. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
186. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
187. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
188. c.595G>A p.A199Tmissense 1VUS (1)0.000000
189. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
190. c.2462T>C p.F821Smissense 1VUS (1)0.000000
191. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
192. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
193. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
194. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
195. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
196. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
197. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
198. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
199. c.4000C>T p.Q1334Xnonsense 1VUS (1)0.000000
200. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
201. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
202. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
203. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
204. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
205. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
206. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
207. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
208. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
209. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
210. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
211. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
212. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
213. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
214. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
215. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
216. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
217. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
218. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
219. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
220. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
221. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
222. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
223. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
224. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
225. c.1013T>C p.V338Amissense 1VUS (1)0.000000
226. c.298G>A p.A100Tmissense 1VUS (1)0.000016
227. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
228. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
229. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
230. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
231. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
232. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
233. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
234. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
235. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
236. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
237. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
238. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
239. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
240. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
241. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
242. c.2631G>A p.M877Imissense 1VUS (1)0.000000
243. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
244. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
245. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
246. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
247. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
248. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
249. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
250. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
251. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
252. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
253. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
254. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
255. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
256. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
257. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
258. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
259. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
260. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
261. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
262. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
263. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
264. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
265. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
266. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
267. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
268. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
269. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
270. c.137T>G p.F46Cmissense 1VUS (1)0.000000
271. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
272. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
273. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
274. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
275. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
276. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
277. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
278. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
279. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
280. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
281. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
282. c.2570C>T p.T857Imissense 1VUS (1)0.000000
283. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
284. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
285. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
286. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
287. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
288. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
289. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
290. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
291. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
292. c.968T>C p.I323Tmissense 1VUS (1)0.000075
293. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
294. c.904C>A p.L302Mmissense 1VUS (1)0.000000
295. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
296. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
297. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
298. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
299. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
300. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
301. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
302. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
303. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
304. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
305. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
306. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
307. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
308. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
309. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
310. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
311. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
312. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
313. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
314. c.677C>T p.A226Vmissense 1VUS (1)0.000000
315. c.115G>A p.V39Mmissense 1VUS (1)0.000057
316. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
317. c.2783A>C p.D928Amissense 1VUS (1)0.000000
318. c.1477_1478delAT frameshift 1VUS (1)0.000000
319. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
320. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
321. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
322. c.5110C>T p.Q1704Xnonsense 1VUS (1)0.000000
323. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
324. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
325. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
326. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
327. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
328. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
329. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
330. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
331. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
332. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
333. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
334. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
335. c.2606G>T p.R869Lmissense 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.