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