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