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

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.