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.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
2. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
3. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
4. c.115G>A p.V39Mmissense 1VUS (1)0.000057
5. c.135G>T p.E45Dmissense 1VUS (1)0.000000
6. c.137T>G p.F46Cmissense 1VUS (1)0.000000
7. c.161G>A p.R54Qmissense 1VUS (1)0.000016
8. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
9. c.298G>A p.A100Tmissense 1VUS (1)0.000016
10. c.343T>C p.Y115Hmissense 5Likely Pathogenic (4)Pathogenic (1)0.000008
11. c.345C>A p.Y115Xnonsense 2VUS (2)0.000000
12. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
13. c.428G>A p.R143Qmissense 7Likely Pathogenic (2)Likely Pathogenic (5)0.000008
14. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
15. c.500C>T p.T167Imissense 1VUS (1)0.000000
16. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
17. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
18. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
19. c.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
20. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
21. c.595G>A p.A199Tmissense 1VUS (1)0.000000
22. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
23. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
24. c.611G>A p.R204Hmissense 3VUS (3)0.000000
25. c.611G>T p.R204Lmissense 4VUS (4)0.000000
26. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
27. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
28. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
29. c.677C>T p.A226Vmissense 1VUS (1)0.000000
30. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
31. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
32. c.710G>A p.R237Qmissense 1VUS (1)0.000000
33. c.715G>A p.D239Nmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
34. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
35. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
36. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
37. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
38. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
39. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
40. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
41. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
42. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
43. c.788T>C p.I263Tmissense 4Pathogenic (1)Likely Pathogenic (3)0.000000
44. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
45. c.793A>T p.T265Smissense 1VUS (1)0.000000
46. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
47. c.809A>G p.K270Rmissense 1VUS (1)0.000000
48. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
49. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
50. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
51. c.904C>A p.L302Mmissense 1VUS (1)0.000000
52. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
53. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
54. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
55. c.958G>A p.V320Mmissense 4VUS (4)0.000008
56. c.964T>A p.S322Tmissense 1VUS (1)0.000000
57. c.968T>C p.I323Tmissense 1VUS (1)0.000075
58. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
59. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
60. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
61. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
62. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
63. c.1013T>C p.V338Amissense 1VUS (1)0.000000
64. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
65. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
66. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
67. c.1063G>A p.A355Tmissense 13Likely Pathogenic (10)VUS favour pathogenic (3)0.000000
68. c.1063G>T p.A355Smissense 3VUS (3)0.000000
69. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
70. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
71. c.1142C>A p.A381Dmissense 5Likely Pathogenic (5)0.000000
72. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
73. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
74. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
75. c.1182C>A p.D394Emissense 2VUS (2)0.000000
76. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
77. c.1207C>T p.R403Wmissense 10Pathogenic (6)Pathogenic (4)0.000000
78. c.1208G>A p.R403Qmissense 15Pathogenic (4)Pathogenic (11)0.000000
79. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
80. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
81. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
82. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
83. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
84. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
85. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
86. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
87. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
88. c.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
89. c.1324C>T p.R442Cmissense 3Likely Pathogenic (2)Pathogenic (1)0.000008
90. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
91. c.1346C>T p.T449Imissense 1VUS (1)0.000000
92. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
93. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
94. c.1357C>T p.R453Cmissense 23Pathogenic (10)Pathogenic (13)0.000000
95. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
96. c.1370T>C p.I457Tmissense 6Likely Pathogenic (3)Likely Pathogenic (3)0.000008
97. c.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
98. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
99. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
100. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
101. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
102. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
103. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
104. c.1477_1478delAT frameshift 1VUS (1)0.000000
105. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
106. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
107. c.1491G>T p.E497Dmissense 5Likely Pathogenic (5)0.000000
108. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
109. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
110. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
111. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
112. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
113. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
114. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
115. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
116. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
117. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
118. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
119. c.1750G>C p.G584Rmissense 22Likely Pathogenic (22)0.000000
120. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
121. c.1757T>C p.V586Amissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
122. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
123. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
124. c.1816G>A p.V606Mmissense 22Pathogenic (13)Pathogenic (9)0.000000
125. c.1856C>T p.T619Imissense 3VUS (3)0.000033
126. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
127. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
128. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
129. c.1987C>T p.R663Cmissense 8Likely Pathogenic (8)0.000000
130. c.1988G>A p.R663Hmissense 37Pathogenic (17)Pathogenic (20)0.000016
131. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
132. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
133. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
134. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
135. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
136. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
137. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
138. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
139. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
140. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
141. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
142. c.2146G>A p.G716Rmissense 7Pathogenic (7)0.000000
143. c.2155C>T p.R719Wmissense 10Pathogenic (5)Pathogenic (5)0.000000
144. c.2156G>A p.R719Qmissense 12Pathogenic (1)Pathogenic (11)0.000000
145. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
146. c.2167C>T p.R723Cmissense 13Pathogenic (4)Pathogenic (9)0.000024
147. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
148. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
149. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
150. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
151. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
152. c.2207T>C p.I736Tmissense 11Pathogenic (6)Likely Pathogenic (5)0.000000
153. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
154. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
155. c.2221G>T p.G741Wmissense 13Pathogenic (8)Pathogenic (5)0.000000
156. c.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)0.000000
157. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
158. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
159. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
160. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
161. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
162. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
163. c.2302G>A p.G768Rmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
164. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
165. c.2348G>A p.R783Hmissense 8Likely Pathogenic (8)0.000016
166. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
167. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
168. c.2389G>A p.A797Tmissense 36Pathogenic (24)Pathogenic (12)0.000032
169. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
170. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
171. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
172. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
173. c.2462T>C p.F821Smissense 1VUS (1)0.000000
174. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
175. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
176. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
177. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
178. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
179. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
180. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
181. c.2539A>G p.K847Emissense 14Likely Pathogenic (10)Likely Pathogenic (4)0.000000
182. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
183. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
184. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
185. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
186. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
187. c.2570C>T p.T857Imissense 1VUS (1)0.000000
188. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
189. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
190. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
191. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
192. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
193. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
194. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
195. c.2609G>A p.R870Hmissense 16Pathogenic (13)Pathogenic (3)0.000000
196. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000
197. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
198. c.2631G>C p.M877Imissense 3VUS (3)0.000000
199. c.2631G>A p.M877Imissense 1VUS (1)0.000000
200. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
201. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
202. c.2681A>G p.E894Gmissense 11Likely Pathogenic (7)Likely Pathogenic (4)0.000000
203. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
204. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
205. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
206. c.2700T>A p.D900Emissense 1VUS (1)0.000000
207. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
208. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
209. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
210. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
211. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
212. c.2717A>G p.D906Gmissense 11Likely Pathogenic (7)Pathogenic (4)0.000000
213. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
214. c.2722C>G p.L908Vmissense 21Pathogenic (5)Pathogenic (16)0.000000
215. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
216. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
217. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
218. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
219. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
220. c.2770G>A p.E924Kmissense 9Pathogenic (5)Pathogenic (4)0.000000
221. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
222. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
223. c.2779G>A p.E927Kmissense 6VUS (3)VUS favour pathogenic (3)0.000000
224. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
225. c.2783A>C p.D928Amissense 1VUS (1)0.000000
226. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
227. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
228. c.2788G>A p.E930Kmissense 4Likely Pathogenic (1)Pathogenic (3)0.000000
229. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
230. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
231. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
232. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
233. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
234. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
235. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
236. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
237. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
238. c.3133C>T p.R1045Cmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000016
239. c.3134G>T p.R1045Lmissense 3VUS (1)Likely Pathogenic (2)0.000016
240. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
241. c.3158G>A p.R1053Qmissense 7Likely Pathogenic (6)Likely Pathogenic (1)0.000074
242. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
243. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
244. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
245. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
246. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
247. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
248. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
249. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
250. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
251. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
252. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
253. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
254. c.3475G>A p.V1159Mmissense 4VUS (4)0.000000
255. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
256. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
257. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
258. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
259. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
260. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
261. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
262. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
263. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
264. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
265. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
266. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
267. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
268. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
269. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
270. c.4000C>T p.Q1334Xnonsense 1VUS (1)0.000000
271. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
272. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
273. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
274. c.4066G>A p.E1356Kmissense 6Likely Pathogenic (5)Likely Pathogenic (1)0.000000
275. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
276. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
277. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
278. c.4130C>T p.T1377Mmissense 12VUS (5)VUS favour pathogenic (7)0.000000
279. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
280. c.4135G>A p.A1379Tmissense 7Pathogenic (5)Pathogenic (2)0.000000
281. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
282. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
283. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
284. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
285. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
286. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
287. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
288. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
289. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
290. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
291. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
292. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
293. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
294. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
295. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
296. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
297. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
298. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
299. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
300. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
301. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
302. c.4817G>A p.R1606Hmissense 4VUS (1)VUS (3)0.000049
303. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
304. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
305. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
306. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
307. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
308. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
309. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
310. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
311. c.5110C>T p.Q1704Xnonsense 1VUS (1)0.000000
312. c.5135G>A p.R1712Qmissense 16VUS (8)Likely Pathogenic (8)0.000008
313. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
314. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
315. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
316. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
317. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
318. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
319. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
320. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
321. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
322. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
323. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
324. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
325. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
326. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
327. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
328. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
329. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
330. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
331. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
332. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
333. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
334. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
335. c.5773C>T p.R1925Cmissense 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.