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.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.1063G>A p.A355Tmissense 13Likely Pathogenic (10)VUS favour pathogenic (3)0.000000
12. c.2167C>T p.R723Cmissense 13Pathogenic (4)Pathogenic (9)0.000024
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.2681A>G p.E894Gmissense 11Likely Pathogenic (7)Likely Pathogenic (4)0.000000
17. c.2207T>C p.I736Tmissense 11Pathogenic (6)Likely Pathogenic (5)0.000000
18. c.2717A>G p.D906Gmissense 11Likely Pathogenic (7)Pathogenic (4)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.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.958G>A p.V320Mmissense 4VUS (4)0.000008
37. c.788T>C p.I263Tmissense 4Pathogenic (1)Likely Pathogenic (3)0.000000
38. c.4817G>A p.R1606Hmissense 4VUS (1)VUS (3)0.000049
39. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
40. c.2788G>A p.E930Kmissense 4Likely Pathogenic (1)Pathogenic (3)0.000000
41. c.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
42. c.3475G>A p.V1159Mmissense 4VUS (4)0.000000
43. c.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
44. c.3133C>T p.R1045Cmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000016
45. c.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)0.000000
46. c.611G>T p.R204Lmissense 4VUS (4)0.000000
47. c.611G>A p.R204Hmissense 3VUS (3)0.000000
48. c.2631G>C p.M877Imissense 3VUS (3)0.000000
49. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
50. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
51. c.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
52. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
53. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
54. c.1063G>T p.A355Smissense 3VUS (3)0.000000
55. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
56. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
57. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
58. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
59. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000
60. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
61. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
62. c.1324C>T p.R442Cmissense 3Likely Pathogenic (2)Pathogenic (1)0.000008
63. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
64. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
65. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
66. c.3134G>T p.R1045Lmissense 3VUS (1)Likely Pathogenic (2)0.000016
67. c.1856C>T p.T619Imissense 3VUS (3)0.000033
68. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
69. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
70. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
71. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
72. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
73. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
74. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
75. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
76. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
77. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
78. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
79. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
80. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
81. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
82. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
83. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
84. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
85. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
86. c.1182C>A p.D394Emissense 2VUS (2)0.000000
87. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
88. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
89. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
90. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
91. c.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
92. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
93. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
94. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
95. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
96. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
97. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
98. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
99. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
100. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
101. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
102. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
103. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
104. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
105. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
106. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
107. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
108. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
109. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
110. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
111. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
112. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
113. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
114. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
115. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
116. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
117. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
118. c.345C>A p.Y115Xnonsense 2VUS (2)0.000000
119. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
120. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
121. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
122. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
123. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
124. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
125. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
126. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
127. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
128. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
129. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
130. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
131. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
132. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
133. c.1346C>T p.T449Imissense 1VUS (1)0.000000
134. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
135. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
136. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
137. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
138. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
139. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
140. c.161G>A p.R54Qmissense 1VUS (1)0.000016
141. c.137T>G p.F46Cmissense 1VUS (1)0.000000
142. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
143. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
144. c.2700T>A p.D900Emissense 1VUS (1)0.000000
145. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
146. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
147. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
148. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
149. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
150. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
151. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
152. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
153. c.2570C>T p.T857Imissense 1VUS (1)0.000000
154. c.793A>T p.T265Smissense 1VUS (1)0.000000
155. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
156. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
157. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
158. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
159. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
160. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
161. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
162. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
163. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
164. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
165. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
166. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
167. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
168. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
169. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
170. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
171. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
172. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
173. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
174. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
175. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
176. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
177. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
178. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
179. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
180. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
181. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
182. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
183. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
184. c.677C>T p.A226Vmissense 1VUS (1)0.000000
185. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
186. c.115G>A p.V39Mmissense 1VUS (1)0.000057
187. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
188. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
189. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
190. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
191. c.2783A>C p.D928Amissense 1VUS (1)0.000000
192. c.1477_1478delAT frameshift 1VUS (1)0.000000
193. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
194. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
195. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
196. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
197. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
198. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
199. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
200. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
201. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
202. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
203. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
204. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
205. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
206. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
207. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
208. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
209. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
210. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
211. c.298G>A p.A100Tmissense 1VUS (1)0.000016
212. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
213. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
214. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
215. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
216. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
217. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
218. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
219. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
220. c.2631G>A p.M877Imissense 1VUS (1)0.000000
221. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
222. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
223. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
224. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
225. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
226. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
227. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
228. c.710G>A p.R237Qmissense 1VUS (1)0.000000
229. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
230. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
231. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
232. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
233. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
234. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
235. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
236. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
237. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
238. c.135G>T p.E45Dmissense 1VUS (1)0.000000
239. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
240. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
241. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
242. c.500C>T p.T167Imissense 1VUS (1)0.000000
243. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
244. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
245. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
246. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
247. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
248. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
249. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
250. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
251. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
252. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
253. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
254. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
255. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
256. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
257. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
258. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
259. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
260. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
261. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
262. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
263. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
264. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
265. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
266. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
267. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
268. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
269. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
270. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
271. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
272. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
273. c.595G>A p.A199Tmissense 1VUS (1)0.000000
274. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
275. c.2462T>C p.F821Smissense 1VUS (1)0.000000
276. c.904C>A p.L302Mmissense 1VUS (1)0.000000
277. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
278. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
279. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
280. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
281. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
282. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
283. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
284. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
285. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
286. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
287. c.4000C>T p.Q1334Xnonsense 1VUS (1)0.000000
288. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
289. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
290. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
291. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
292. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
293. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
294. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
295. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
296. c.5110C>T p.Q1704Xnonsense 1VUS (1)0.000000
297. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
298. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
299. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
300. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
301. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
302. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
303. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
304. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
305. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
306. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
307. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
308. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
309. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
310. c.968T>C p.I323Tmissense 1VUS (1)0.000075
311. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
312. c.964T>A p.S322Tmissense 1VUS (1)0.000000
313. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
314. c.1013T>C p.V338Amissense 1VUS (1)0.000000
315. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
316. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
317. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
318. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
319. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
320. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
321. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
322. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
323. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
324. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
325. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
326. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
327. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
328. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
329. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
330. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
331. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
332. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
333. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
334. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
335. c.809A>G p.K270Rmissense 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.