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