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