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