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