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.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.2348G>A p.R783Hmissense 8Likely Pathogenic (8)0.000016
23. c.1987C>T p.R663Cmissense 8Likely Pathogenic (8)0.000000
24. c.2146G>A p.G716Rmissense 7Pathogenic (7)0.000000
25. c.428G>A p.R143Qmissense 7Likely Pathogenic (2)Likely Pathogenic (5)0.000008
26. c.3158G>A p.R1053Qmissense 7Likely Pathogenic (6)Likely Pathogenic (1)0.000074
27. c.4135G>A p.A1379Tmissense 7Pathogenic (5)Pathogenic (2)0.000000
28. c.715G>A p.D239Nmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
29. c.2302G>A p.G768Rmissense 7Likely Pathogenic (3)Likely Pathogenic (4)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.343T>C p.Y115Hmissense 5Likely Pathogenic (4)Pathogenic (1)0.000008
35. c.1142C>A p.A381Dmissense 5Likely Pathogenic (5)0.000000
36. c.2788G>A p.E930Kmissense 4Likely Pathogenic (1)Pathogenic (3)0.000000
37. c.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
38. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
39. c.958G>A p.V320Mmissense 4VUS (4)0.000008
40. c.4817G>A p.R1606Hmissense 4VUS (1)VUS (3)0.000049
41. c.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
42. c.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)0.000000
43. c.611G>T p.R204Lmissense 4VUS (4)0.000000
44. c.3133C>T p.R1045Cmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000016
45. c.788T>C p.I263Tmissense 4Pathogenic (1)Likely Pathogenic (3)0.000000
46. c.3475G>A p.V1159Mmissense 4VUS (4)0.000000
47. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
48. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
49. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
50. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
51. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
52. c.1856C>T p.T619Imissense 3VUS (3)0.000033
53. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
54. c.611G>A p.R204Hmissense 3VUS (3)0.000000
55. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
56. c.2631G>C p.M877Imissense 3VUS (3)0.000000
57. c.3134G>T p.R1045Lmissense 3VUS (1)Likely Pathogenic (2)0.000016
58. c.1324C>T p.R442Cmissense 3Likely Pathogenic (2)Pathogenic (1)0.000008
59. c.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
60. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000
61. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
62. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
63. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
64. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
65. c.1063G>T p.A355Smissense 3VUS (3)0.000000
66. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
67. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
68. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
69. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
70. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
71. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
72. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
73. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
74. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
75. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
76. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
77. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
78. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
79. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
80. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
81. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
82. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
83. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
84. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
85. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
86. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
87. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
88. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
89. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
90. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
91. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
92. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
93. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
94. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
95. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
96. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
97. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
98. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
99. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
100. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
101. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
102. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
103. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
104. c.1182C>A p.D394Emissense 2VUS (2)0.000000
105. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
106. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
107. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
108. c.345C>A p.Y115Xnonsense 2VUS (2)0.000000
109. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
110. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
111. c.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
112. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
113. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
114. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
115. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
116. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
117. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
118. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
119. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
120. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
121. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
122. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
123. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
124. c.968T>C p.I323Tmissense 1VUS (1)0.000075
125. c.904C>A p.L302Mmissense 1VUS (1)0.000000
126. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
127. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
128. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
129. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
130. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
131. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
132. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
133. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
134. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
135. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
136. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
137. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
138. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
139. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
140. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
141. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
142. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
143. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
144. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
145. c.2783A>C p.D928Amissense 1VUS (1)0.000000
146. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
147. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
148. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
149. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
150. c.677C>T p.A226Vmissense 1VUS (1)0.000000
151. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
152. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
153. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
154. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
155. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
156. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
157. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
158. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
159. c.5110C>T p.Q1704Xnonsense 1VUS (1)0.000000
160. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
161. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
162. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
163. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
164. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
165. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
166. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
167. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
168. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
169. c.1013T>C p.V338Amissense 1VUS (1)0.000000
170. c.161G>A p.R54Qmissense 1VUS (1)0.000016
171. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
172. c.964T>A p.S322Tmissense 1VUS (1)0.000000
173. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
174. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
175. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
176. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
177. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
178. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
179. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
180. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
181. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
182. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
183. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
184. c.710G>A p.R237Qmissense 1VUS (1)0.000000
185. c.809A>G p.K270Rmissense 1VUS (1)0.000000
186. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
187. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
188. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
189. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
190. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
191. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
192. c.135G>T p.E45Dmissense 1VUS (1)0.000000
193. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
194. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
195. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
196. c.500C>T p.T167Imissense 1VUS (1)0.000000
197. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
198. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
199. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
200. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
201. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
202. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
203. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
204. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
205. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
206. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
207. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
208. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
209. c.2700T>A p.D900Emissense 1VUS (1)0.000000
210. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
211. c.1346C>T p.T449Imissense 1VUS (1)0.000000
212. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
213. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
214. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
215. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
216. c.793A>T p.T265Smissense 1VUS (1)0.000000
217. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
218. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
219. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
220. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
221. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
222. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
223. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
224. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
225. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
226. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
227. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
228. c.595G>A p.A199Tmissense 1VUS (1)0.000000
229. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
230. c.2462T>C p.F821Smissense 1VUS (1)0.000000
231. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
232. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
233. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
234. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
235. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
236. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
237. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
238. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
239. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
240. c.4000C>T p.Q1334Xnonsense 1VUS (1)0.000000
241. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
242. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
243. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
244. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
245. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
246. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
247. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
248. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
249. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
250. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
251. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
252. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
253. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
254. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
255. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
256. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
257. c.1477_1478delAT frameshift 1VUS (1)0.000000
258. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
259. c.115G>A p.V39Mmissense 1VUS (1)0.000057
260. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
261. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
262. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
263. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
264. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
265. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
266. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
267. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
268. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
269. c.298G>A p.A100Tmissense 1VUS (1)0.000016
270. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
271. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
272. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
273. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
274. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
275. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
276. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
277. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
278. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
279. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
280. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
281. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
282. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
283. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
284. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
285. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
286. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
287. c.2631G>A p.M877Imissense 1VUS (1)0.000000
288. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
289. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
290. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
291. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
292. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
293. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
294. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
295. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
296. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
297. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
298. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
299. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
300. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
301. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
302. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
303. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
304. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
305. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
306. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
307. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
308. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
309. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
310. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
311. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
312. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
313. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
314. c.137T>G p.F46Cmissense 1VUS (1)0.000000
315. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
316. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
317. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
318. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
319. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
320. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
321. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
322. c.2570C>T p.T857Imissense 1VUS (1)0.000000
323. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
324. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
325. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
326. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
327. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
328. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
329. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
330. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
331. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
332. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
333. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
334. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
335. c.2353A>G p.I785Vmissense 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.