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.1142C>A p.A381Dmissense 5Likely Pathogenic (5)0.000000
34. c.1491G>T p.E497Dmissense 5Likely Pathogenic (5)0.000000
35. c.343T>C p.Y115Hmissense 5Likely Pathogenic (4)Pathogenic (1)0.000008
36. c.3475G>A p.V1159Mmissense 4VUS (4)0.000000
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.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
40. c.611G>T p.R204Lmissense 4VUS (4)0.000000
41. c.2788G>A p.E930Kmissense 4Likely Pathogenic (1)Pathogenic (3)0.000000
42. c.958G>A p.V320Mmissense 4VUS (4)0.000008
43. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
44. c.4817G>A p.R1606Hmissense 4VUS (1)VUS (3)0.000049
45. c.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
46. c.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)0.000000
47. c.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
48. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
49. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000
50. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
51. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
52. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
53. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
54. c.1856C>T p.T619Imissense 3VUS (3)0.000033
55. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
56. c.611G>A p.R204Hmissense 3VUS (3)0.000000
57. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
58. c.2631G>C p.M877Imissense 3VUS (3)0.000000
59. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
60. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
61. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
62. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
63. c.1324C>T p.R442Cmissense 3Likely Pathogenic (2)Pathogenic (1)0.000008
64. c.3134G>T p.R1045Lmissense 3VUS (1)Likely Pathogenic (2)0.000016
65. c.1063G>T p.A355Smissense 3VUS (3)0.000000
66. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
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.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
71. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
72. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
73. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
74. c.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
75. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
76. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
77. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
78. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
79. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
80. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
81. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
82. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
83. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
84. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
85. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
86. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
87. c.345C>A p.Y115Xnonsense 2VUS (2)0.000000
88. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
89. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
90. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
91. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
92. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
93. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
94. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
95. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
96. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
97. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
98. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
99. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
100. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
101. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
102. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
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.4259G>T p.R1420Lmissense 2VUS (2)0.000000
106. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
107. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
108. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
109. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
110. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
111. c.1182C>A p.D394Emissense 2VUS (2)0.000000
112. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
113. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
114. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
115. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
116. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
117. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
118. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
119. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
120. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
121. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
122. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
123. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
124. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
125. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
126. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
127. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
128. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
129. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
130. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
131. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
132. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
133. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
134. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
135. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
136. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
137. c.2462T>C p.F821Smissense 1VUS (1)0.000000
138. c.904C>A p.L302Mmissense 1VUS (1)0.000000
139. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
140. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
141. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
142. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
143. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
144. c.595G>A p.A199Tmissense 1VUS (1)0.000000
145. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
146. c.4000C>T p.Q1334Xnonsense 1VUS (1)0.000000
147. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
148. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
149. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
150. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
151. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
152. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
153. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
154. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
155. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
156. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
157. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
158. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
159. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
160. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
161. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
162. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
163. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
164. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
165. c.5110C>T p.Q1704Xnonsense 1VUS (1)0.000000
166. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
167. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
168. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
169. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
170. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
171. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
172. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
173. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
174. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
175. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
176. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
177. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
178. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
179. c.964T>A p.S322Tmissense 1VUS (1)0.000000
180. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
181. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
182. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
183. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
184. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
185. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
186. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
187. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
188. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
189. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
190. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
191. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
192. c.968T>C p.I323Tmissense 1VUS (1)0.000075
193. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
194. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
195. c.809A>G p.K270Rmissense 1VUS (1)0.000000
196. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
197. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
198. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
199. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
200. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
201. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
202. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
203. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
204. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
205. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
206. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
207. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
208. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
209. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
210. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
211. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
212. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
213. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
214. c.137T>G p.F46Cmissense 1VUS (1)0.000000
215. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
216. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
217. c.2700T>A p.D900Emissense 1VUS (1)0.000000
218. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
219. c.1346C>T p.T449Imissense 1VUS (1)0.000000
220. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
221. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
222. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
223. c.2570C>T p.T857Imissense 1VUS (1)0.000000
224. c.793A>T p.T265Smissense 1VUS (1)0.000000
225. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
226. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
227. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
228. c.1013T>C p.V338Amissense 1VUS (1)0.000000
229. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
230. c.161G>A p.R54Qmissense 1VUS (1)0.000016
231. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
232. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
233. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
234. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
235. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
236. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
237. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
238. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
239. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
240. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
241. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
242. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
243. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
244. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
245. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
246. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
247. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
248. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
249. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
250. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
251. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
252. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
253. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
254. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
255. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
256. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
257. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
258. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
259. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
260. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
261. c.2783A>C p.D928Amissense 1VUS (1)0.000000
262. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
263. c.677C>T p.A226Vmissense 1VUS (1)0.000000
264. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
265. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
266. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
267. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
268. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
269. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
270. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
271. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
272. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
273. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
274. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
275. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
276. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
277. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
278. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
279. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
280. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
281. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
282. c.298G>A p.A100Tmissense 1VUS (1)0.000016
283. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
284. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
285. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
286. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
287. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
288. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
289. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
290. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
291. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
292. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
293. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
294. c.2631G>A p.M877Imissense 1VUS (1)0.000000
295. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
296. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
297. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
298. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
299. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
300. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
301. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
302. c.710G>A p.R237Qmissense 1VUS (1)0.000000
303. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
304. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
305. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
306. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
307. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
308. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
309. c.135G>T p.E45Dmissense 1VUS (1)0.000000
310. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
311. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
312. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
313. c.500C>T p.T167Imissense 1VUS (1)0.000000
314. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
315. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
316. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
317. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
318. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
319. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
320. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
321. c.1477_1478delAT frameshift 1VUS (1)0.000000
322. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
323. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
324. c.115G>A p.V39Mmissense 1VUS (1)0.000057
325. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
326. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
327. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
328. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
329. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
330. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
331. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
332. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
333. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
334. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
335. c.5471A>G p.N1824Smissense 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.