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