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.2167C>T p.R723Cmissense 13Pathogenic (4)Pathogenic (9)0.000024
12. c.1063G>A p.A355Tmissense 13Likely Pathogenic (10)VUS favour pathogenic (3)0.000000
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.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.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.343T>C p.Y115Hmissense 5Likely Pathogenic (4)Pathogenic (1)0.000008
34. c.1491G>T p.E497Dmissense 5Likely Pathogenic (5)0.000000
35. c.1142C>A p.A381Dmissense 5Likely Pathogenic (5)0.000000
36. c.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
37. c.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)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.788T>C p.I263Tmissense 4Pathogenic (1)Likely Pathogenic (3)0.000000
41. c.4817G>A p.R1606Hmissense 4VUS (1)VUS (3)0.000049
42. c.2788G>A p.E930Kmissense 4Likely Pathogenic (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.3475G>A p.V1159Mmissense 4VUS (4)0.000000
46. c.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
47. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
48. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
49. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
50. c.1856C>T p.T619Imissense 3VUS (3)0.000033
51. c.611G>A p.R204Hmissense 3VUS (3)0.000000
52. c.2631G>C p.M877Imissense 3VUS (3)0.000000
53. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
54. c.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
55. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
56. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000
57. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
58. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
59. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
60. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
61. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
62. c.1063G>T p.A355Smissense 3VUS (3)0.000000
63. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
64. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
65. c.1324C>T p.R442Cmissense 3Likely Pathogenic (2)Pathogenic (1)0.000008
66. c.3134G>T p.R1045Lmissense 3VUS (1)Likely Pathogenic (2)0.000016
67. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
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.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
71. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
72. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
73. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
74. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
75. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
76. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
77. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
78. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
79. c.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
80. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
81. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
82. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
83. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
84. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
85. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
86. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
87. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
88. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
89. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
90. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
91. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
92. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
93. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
94. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
95. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
96. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
97. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
98. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
99. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
100. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
101. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
102. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
103. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
104. c.1182C>A p.D394Emissense 2VUS (2)0.000000
105. c.345C>A p.Y115Xnonsense 2VUS (2)0.000000
106. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
107. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
108. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
109. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
110. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
111. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
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.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
115. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
116. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
117. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
118. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
119. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
120. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
121. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
122. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
123. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
124. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
125. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
126. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
127. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
128. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
129. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
130. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
131. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
132. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
133. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
134. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
135. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
136. c.2783A>C p.D928Amissense 1VUS (1)0.000000
137. c.1477_1478delAT frameshift 1VUS (1)0.000000
138. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
139. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
140. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
141. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
142. c.677C>T p.A226Vmissense 1VUS (1)0.000000
143. c.115G>A p.V39Mmissense 1VUS (1)0.000057
144. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
145. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
146. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
147. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
148. c.5110C>T p.Q1704Xnonsense 1VUS (1)0.000000
149. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
150. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
151. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
152. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
153. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
154. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
155. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
156. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
157. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
158. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
159. c.161G>A p.R54Qmissense 1VUS (1)0.000016
160. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
161. c.964T>A p.S322Tmissense 1VUS (1)0.000000
162. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
163. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
164. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
165. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
166. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
167. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
168. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
169. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
170. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
171. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
172. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
173. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
174. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
175. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
176. c.710G>A p.R237Qmissense 1VUS (1)0.000000
177. c.809A>G p.K270Rmissense 1VUS (1)0.000000
178. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
179. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
180. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
181. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
182. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
183. c.500C>T p.T167Imissense 1VUS (1)0.000000
184. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
185. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
186. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
187. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
188. c.135G>T p.E45Dmissense 1VUS (1)0.000000
189. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
190. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
191. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
192. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
193. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
194. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
195. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
196. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
197. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
198. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
199. c.2700T>A p.D900Emissense 1VUS (1)0.000000
200. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
201. c.1346C>T p.T449Imissense 1VUS (1)0.000000
202. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
203. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
204. c.793A>T p.T265Smissense 1VUS (1)0.000000
205. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
206. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
207. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
208. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
209. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
210. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
211. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
212. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
213. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
214. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
215. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
216. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
217. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
218. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
219. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
220. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
221. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
222. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
223. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
224. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
225. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
226. c.595G>A p.A199Tmissense 1VUS (1)0.000000
227. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
228. c.2462T>C p.F821Smissense 1VUS (1)0.000000
229. c.4000C>T p.Q1334Xnonsense 1VUS (1)0.000000
230. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
231. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
232. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
233. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
234. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
235. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
236. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
237. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
238. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
239. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
240. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
241. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
242. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
243. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
244. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
245. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
246. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
247. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
248. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
249. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
250. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
251. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
252. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
253. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
254. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
255. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
256. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
257. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
258. c.298G>A p.A100Tmissense 1VUS (1)0.000016
259. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
260. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
261. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
262. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
263. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
264. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
265. c.1013T>C p.V338Amissense 1VUS (1)0.000000
266. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
267. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
268. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
269. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
270. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
271. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
272. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
273. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
274. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
275. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
276. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
277. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
278. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
279. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
280. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
281. c.2631G>A p.M877Imissense 1VUS (1)0.000000
282. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
283. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
284. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
285. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
286. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
287. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
288. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
289. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
290. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
291. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
292. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
293. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
294. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
295. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
296. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
297. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
298. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
299. c.137T>G p.F46Cmissense 1VUS (1)0.000000
300. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
301. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
302. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
303. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
304. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
305. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
306. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
307. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
308. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
309. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
310. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
311. c.2570C>T p.T857Imissense 1VUS (1)0.000000
312. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
313. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
314. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
315. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
316. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
317. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
318. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
319. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
320. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
321. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
322. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
323. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
324. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
325. c.904C>A p.L302Mmissense 1VUS (1)0.000000
326. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
327. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
328. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
329. c.968T>C p.I323Tmissense 1VUS (1)0.000075
330. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
331. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
332. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
333. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
334. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
335. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (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.