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