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.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.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.4135G>A p.A1379Tmissense 7Pathogenic (5)Pathogenic (2)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.1370T>C p.I457Tmissense 6Likely Pathogenic (3)Likely Pathogenic (3)0.000008
31. c.2779G>A p.E927Kmissense 6VUS (3)VUS favour pathogenic (3)0.000000
32. c.4066G>A p.E1356Kmissense 6Likely Pathogenic (5)Likely Pathogenic (1)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.958G>A p.V320Mmissense 4VUS (4)0.000008
37. c.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)0.000000
38. c.788T>C p.I263Tmissense 4Pathogenic (1)Likely Pathogenic (3)0.000000
39. c.3133C>T p.R1045Cmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000016
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.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
44. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
45. c.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
46. c.611G>T p.R204Lmissense 4VUS (4)0.000000
47. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
48. c.1856C>T p.T619Imissense 3VUS (3)0.000033
49. c.611G>A p.R204Hmissense 3VUS (3)0.000000
50. c.2631G>C p.M877Imissense 3VUS (3)0.000000
51. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
52. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
53. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
54. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
55. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
56. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
57. c.1063G>T p.A355Smissense 3VUS (3)0.000000
58. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
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.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
63. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000
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.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
69. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
70. c.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
71. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
72. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
73. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
74. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
75. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
76. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
77. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
78. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
79. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
80. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
81. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
82. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
83. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
84. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
85. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
86. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
87. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
88. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
89. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
90. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
91. c.1182C>A p.D394Emissense 2VUS (2)0.000000
92. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
93. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
94. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
95. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
96. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
97. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
98. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
99. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
100. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
101. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
102. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
103. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
104. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
105. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
106. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
107. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
108. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
109. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
110. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
111. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
112. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
113. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
114. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
115. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
116. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
117. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
118. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
119. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
120. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
121. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
122. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
123. c.345C>A p.Y115Xnonsense 2VUS (2)0.000000
124. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
125. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
126. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
127. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
128. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
129. c.4144C>T p.R1382Wmissense 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.809A>G p.K270Rmissense 1VUS (1)0.000000
133. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
134. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
135. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
136. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
137. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
138. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
139. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
140. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
141. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
142. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
143. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
144. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
145. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
146. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
147. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
148. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
149. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
150. c.1346C>T p.T449Imissense 1VUS (1)0.000000
151. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
152. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
153. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
154. c.137T>G p.F46Cmissense 1VUS (1)0.000000
155. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
156. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
157. c.2700T>A p.D900Emissense 1VUS (1)0.000000
158. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
159. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
160. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
161. c.2570C>T p.T857Imissense 1VUS (1)0.000000
162. c.793A>T p.T265Smissense 1VUS (1)0.000000
163. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
164. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
165. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
166. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
167. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
168. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
169. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
170. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
171. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
172. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
173. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
174. c.968T>C p.I323Tmissense 1VUS (1)0.000075
175. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
176. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
177. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
178. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
179. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
180. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
181. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
182. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
183. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
184. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
185. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
186. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
187. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
188. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
189. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
190. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
191. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
192. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
193. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
194. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
195. c.677C>T p.A226Vmissense 1VUS (1)0.000000
196. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
197. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
198. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
199. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
200. c.2783A>C p.D928Amissense 1VUS (1)0.000000
201. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
202. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
203. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
204. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
205. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
206. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
207. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
208. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
209. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
210. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
211. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
212. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
213. c.161G>A p.R54Qmissense 1VUS (1)0.000016
214. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
215. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
216. c.298G>A p.A100Tmissense 1VUS (1)0.000016
217. c.1013T>C p.V338Amissense 1VUS (1)0.000000
218. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
219. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
220. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
221. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
222. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
223. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
224. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
225. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
226. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
227. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
228. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
229. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
230. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
231. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
232. c.2631G>A p.M877Imissense 1VUS (1)0.000000
233. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
234. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
235. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
236. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
237. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
238. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
239. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
240. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
241. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
242. c.710G>A p.R237Qmissense 1VUS (1)0.000000
243. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
244. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
245. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
246. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
247. c.135G>T p.E45Dmissense 1VUS (1)0.000000
248. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
249. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
250. c.500C>T p.T167Imissense 1VUS (1)0.000000
251. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
252. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
253. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
254. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
255. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
256. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
257. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
258. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
259. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
260. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
261. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
262. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
263. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
264. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
265. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
266. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
267. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
268. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
269. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
270. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
271. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
272. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
273. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
274. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
275. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
276. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
277. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
278. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
279. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
280. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
281. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
282. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
283. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
284. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
285. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
286. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
287. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
288. c.595G>A p.A199Tmissense 1VUS (1)0.000000
289. c.2462T>C p.F821Smissense 1VUS (1)0.000000
290. c.904C>A p.L302Mmissense 1VUS (1)0.000000
291. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
292. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
293. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
294. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
295. c.4000C>T p.Q1334Xnonsense 1VUS (1)0.000000
296. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
297. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
298. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
299. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
300. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
301. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
302. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
303. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
304. c.1477_1478delAT frameshift 1VUS (1)0.000000
305. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
306. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
307. c.115G>A p.V39Mmissense 1VUS (1)0.000057
308. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
309. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
310. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
311. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
312. c.5110C>T p.Q1704Xnonsense 1VUS (1)0.000000
313. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
314. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
315. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
316. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
317. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
318. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
319. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
320. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
321. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
322. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
323. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
324. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
325. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
326. c.964T>A p.S322Tmissense 1VUS (1)0.000000
327. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
328. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
329. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
330. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
331. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
332. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
333. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
334. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
335. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057

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.