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.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.2717A>G p.D906Gmissense 11Likely Pathogenic (7)Pathogenic (4)0.000000
17. c.2681A>G p.E894Gmissense 11Likely Pathogenic (7)Likely Pathogenic (4)0.000000
18. c.2207T>C p.I736Tmissense 11Pathogenic (6)Likely Pathogenic (5)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.2146G>A p.G716Rmissense 7Pathogenic (7)0.000000
25. c.428G>A p.R143Qmissense 7Likely Pathogenic (2)Likely Pathogenic (5)0.000008
26. c.3158G>A p.R1053Qmissense 7Likely Pathogenic (6)Likely Pathogenic (1)0.000074
27. c.4135G>A p.A1379Tmissense 7Pathogenic (5)Pathogenic (2)0.000000
28. c.715G>A p.D239Nmissense 7Likely Pathogenic (3)Likely Pathogenic (4)0.000000
29. c.2302G>A p.G768Rmissense 7Likely Pathogenic (3)Likely Pathogenic (4)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.2788G>A p.E930Kmissense 4Likely Pathogenic (1)Pathogenic (3)0.000000
37. c.611G>T p.R204Lmissense 4VUS (4)0.000000
38. c.3133C>T p.R1045Cmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000016
39. c.3475G>A p.V1159Mmissense 4VUS (4)0.000000
40. c.1318G>A p.V440Mmissense 4VUS (2)Likely Pathogenic (2)0.000000
41. c.508G>A p.E170Kmissense 4Pathogenic (4)0.000000
42. c.2221G>A p.G741Rmissense 4Pathogenic (1)Pathogenic (3)0.000000
43. c.746G>A p.R249Qmissense 4Pathogenic (3)Pathogenic (1)0.000000
44. c.958G>A p.V320Mmissense 4VUS (4)0.000008
45. c.788T>C p.I263Tmissense 4Pathogenic (1)Likely Pathogenic (3)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.1405G>A p.D469Nmissense 3VUS (2)VUS favour pathogenic (1)0.000008
49. c.2623_2625delGAG p.Glu875delinframe 3Likely Pathogenic (1)Pathogenic (2)0.000000
50. c.2011C>T p.R671Cmissense 3Likely Pathogenic (2)Likely Pathogenic (1)0.000000
51. c.5326A>G p.S1776Gmissense 3Likely Pathogenic (1)VUS favour pathogenic (2)0.000032
52. c.976G>C p.A326Pmissense 3Likely Pathogenic (2)VUS (1)0.000067
53. c.2572C>T p.R858Cmissense 3VUS (2)VUS favour pathogenic (1)0.000000
54. c.4124A>G p.Y1375Cmissense 3VUS (2)Likely Pathogenic (1)0.000000
55. c.1063G>T p.A355Smissense 3VUS (3)0.000000
56. c.2287G>A p.V763Mmissense 3Likely Pathogenic (3)0.000000
57. c.5561C>T p.T1854Mmissense 3VUS (2)VUS favour pathogenic (1)0.000033
58. c.3134G>T p.R1045Lmissense 3VUS (1)Likely Pathogenic (2)0.000016
59. c.1324C>T p.R442Cmissense 3Likely Pathogenic (2)Pathogenic (1)0.000008
60. c.5380C>A p.Q1794Kmissense 3VUS (1)Likely Pathogenic (2)0.000000
61. c.427C>T p.R143Wmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000049
62. c.1279C>A p.L427Mmissense 3Likely Pathogenic (3)0.000000
63. c.1358G>A p.R453Hmissense 3Likely Pathogenic (1)Likely Pathogenic (2)0.000000
64. c.1856C>T p.T619Imissense 3VUS (3)0.000033
65. c.611G>A p.R204Hmissense 3VUS (3)0.000000
66. c.2631G>C p.M877Imissense 3VUS (3)0.000000
67. c.2539_2541delAAG inframe 3Likely Pathogenic (3)0.000000
68. c.5287G>A p.A1763Tmissense 2Likely Pathogenic (2)0.000041
69. c.5342G>A p.R1781Hmissense 2Likely Pathogenic (2)0.000008
70. c.799C>G p.L267Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
71. c.2536G>C p.E846Qmissense 2VUS (2)0.000000
72. c.1231G>A p.V411Imissense 2Likely Pathogenic (2)0.000008
73. c.1759G>A p.D587Nmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
74. c.632C>T p.P211Lmissense 2Likely Pathogenic (1)VUS (1)0.000024
75. c.2069T>C p.M690Tmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
76. c.1045A>G p.M349Vmissense 2VUS (2)0.000024
77. c.4259G>T p.R1420Lmissense 2VUS (2)0.000000
78. c.1268C>T p.A423Vmissense 2VUS (2)0.000000
79. c.1283C>T p.A428Vmissense 2VUS favour pathogenic (2)0.000000
80. c.2546T>C p.M849Tmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
81. c.1003G>T p.A335Smissense 2VUS favour pathogenic (2)0.000000
82. c.2602G>C p.A868Pmissense 2VUS (1)Likely Pathogenic (1)0.000000
83. c.5704G>C p.E1902Qmissense 2VUS (1)VUS favour pathogenic (1)0.000074
84. c.3994G>A p.A1332Tmissense 2VUS favour pathogenic (2)0.000016
85. c.1182C>A p.D394Emissense 2VUS (2)0.000000
86. c.3637G>A p.V1213Mmissense 2VUS (1)VUS (1)0.000000
87. c.2608C>T p.R870Cmissense 2VUS (2)0.000008
88. c.345C>A p.Y115Xnonsense 2VUS (2)0.000000
89. c.4145G>A p.R1382Qmissense 2Likely Pathogenic (2)0.000000
90. c.2167C>G p.R723Gmissense 2Pathogenic (1)Pathogenic (1)0.000000
91. c.2791_2793delGAG inframe 2Likely Pathogenic (1)Pathogenic (1)0.000000
92. c.3346G>A p.E1116Kmissense 2VUS (1)Likely Pathogenic (1)0.000000
93. c.596C>T p.A199Vmissense 2Likely Pathogenic (2)0.000000
94. c.1012G>A p.V338Mmissense 2Likely Pathogenic (2)0.000000
95. c.1954A>G p.R652Gmissense 2Likely Pathogenic (2)0.000008
96. c.2471T>C p.V824Amissense 2VUS (1)Likely Pathogenic (1)0.000000
97. c.578A>G p.Q193Rmissense 2Likely Pathogenic (2)0.000000
98. c.641G>A p.G214Dmissense 2Likely Pathogenic (2)0.000000
99. c.5329G>A p.A1777Tmissense 2VUS (2)0.000041
100. c.2606G>A p.R869Hmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000032
101. c.1433T>A p.I478Nmissense 2Likely Pathogenic (2)0.000000
102. c.2198G>A p.G733Emissense 2Likely Pathogenic (2)0.000000
103. c.4259G>A p.R1420Qmissense 2VUS (1)VUS favour pathogenic (1)0.000000
104. c.2555T>C p.M852Tmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
105. c.2788G>C p.E930Qmissense 2Likely Pathogenic (2)0.000000
106. c.2129C>A p.P710Hmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
107. c.1447G>A p.E483Kmissense 2Pathogenic (2)0.000008
108. c.4258C>T p.R1420Wmissense 2VUS (1)VUS favour pathogenic (1)0.000008
109. c.1051A>G p.K351Emissense 2Likely Pathogenic (2)0.000000
110. c.767G>A p.G256Emissense 2Likely Pathogenic (2)0.000000
111. c.619A>C p.K207Qmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
112. c.3169G>A p.G1057Smissense 2VUS favour pathogenic (2)0.000008
113. c.49C>T p.R17Cmissense 2Likely Pathogenic (2)0.000000
114. c.2220G>T p.K740Nmissense 2Likely Pathogenic (2)0.000000
115. c.872C>T p.S291Fmissense 2Likely Pathogenic (2)0.000000
116. c.2744T>C p.L915Pmissense 2Pathogenic (2)0.000000
117. c.4537A>T p.T1513Smissense 2VUS (2)0.000000
118. c.2296A>C p.K766Qmissense 2Likely Pathogenic (1)Pathogenic (1)0.000000
119. c.2359C>T p.R787Cmissense 2Likely Pathogenic (2)0.000057
120. c.28G>C p.G10Rmissense 2VUS favour pathogenic (2)0.000074
121. c.2719C>A p.Q907Kmissense 2VUS (2)0.000000
122. c.1727A>G p.H576Rmissense 2Likely Pathogenic (2)0.000008
123. c.1436A>G p.N479Smissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
124. c.2627_2629delAGA p.Lys876delinframe 1VUS favour pathogenic (1)0.000000
125. c.3170G>A p.G1057Dmissense 1VUS (1)0.000000
126. c.743T>C p.I248Tmissense 1Likely Pathogenic (1)0.000000
127. c.2716G>A p.D906Nmissense 1VUS favour pathogenic (1)0.000000
128. c.2692C>G p.L898Vmissense 1Likely Pathogenic (1)0.000000
129. c.505A>G p.R169Gmissense 1Likely Pathogenic (1)0.000000
130. c.2711G>A p.R904Hmissense 1VUS (1)0.000000
131. c.830T>C p.L277Pmissense 1VUS favour pathogenic (1)0.000000
132. c.2770G>C p.E924Qmissense 1VUS (1)0.000000
133. c.293A>T p.E98Vmissense 1VUS favour pathogenic (1)0.000000
134. c.4283T>C p.L1428Smissense 1Likely Pathogenic (1)0.000032
135. c.2081G>A p.R694Hmissense 1Likely Pathogenic (1)0.000000
136. c.5341C>T p.R1781Cmissense 1Pathogenic (1)0.000000
137. c.595G>A p.A199Tmissense 1VUS (1)0.000000
138. c.728G>A p.R243Hmissense 1Likely Pathogenic (1)0.000008
139. c.2462T>C p.F821Smissense 1VUS (1)0.000000
140. c.4660G>A p.E1554Kmissense 1VUS (1)0.000000
141. c.5088G>C p.E1696Dmissense 1VUS (1)0.000024
142. c.1132A>C p.T378Pmissense 1VUS (1)0.000000
143. c.2052G>A p.M684Imissense 1VUS favour benign (1)0.000008
144. c.5690G>A p.R1897Hmissense 1VUS (1)0.000000
145. c.1477A>G p.M493Vmissense 1Likely Pathogenic (1)0.000000
146. c.3967G>A p.V1323Imissense 1VUS favour benign (1)0.000000
147. c.4919A>G p.Q1640Rmissense 1VUS (1)0.000000
148. c.5587C>T p.R1863Wmissense 1VUS (1)0.000008
149. c.3484G>A p.E1162Kmissense 1VUS (1)0.000000
150. c.4000C>T p.Q1334Xnonsense 1VUS (1)0.000000
151. c.4787C>T p.S1596Lmissense 1VUS (1)0.000041
152. c.3229_3240del p.Asp1077_Leu1080delinframe 1VUS (1)0.000000
153. c.1207C>G p.R403Gmissense 1Pathogenic (1)0.000000
154. c.2881C>G p.L961Vmissense 1VUS (1)0.000000
155. c.1477A>T p.M493Lmissense 1Likely Pathogenic (1)0.000000
156. c.3325A>G p.K1109Emissense 1VUS (1)0.000000
157. c.3493A>G p.K1165Emissense 1VUS (1)0.000012
158. c.2845G>A p.E949Kmissense 1Likely Pathogenic (1)0.000000
159. c.2501T>A p.F834Ymissense 1VUS (1)0.000000
160. c.920C>A p.P307Hmissense 1Pathogenic (1)0.000000
161. c.4525A>C p.I1509Lmissense 1VUS (1)0.000016
162. c.1549C>A p.L517Mmissense 1VUS favour pathogenic (1)0.000000
163. c.3830G>A p.R1277Qmissense 1VUS (1)0.000041
164. c.4136C>A p.A1379Dmissense 1VUS favour pathogenic (1)0.000000
165. c.2432T>C p.L811Pmissense 1Likely Pathogenic (1)0.000000
166. c.2246T>A p.L749Qmissense 1Likely Pathogenic (1)0.000000
167. c.1562T>C p.I521Tmissense 1Likely Pathogenic (1)0.000000
168. c.5344A>G p.M1782Vmissense 1Likely Pathogenic (1)0.000000
169. c.2785G>A p.E929Kmissense 1Likely Pathogenic (1)0.000000
170. c.2183C>T p.A728Vmissense 1VUS (1)0.000000
171. c.748A>G p.I250Vmissense 1VUS favour pathogenic (1)0.000000
172. c.2123G>C p.G708Amissense 1Pathogenic (1)0.000000
173. c.2573G>A p.R858Hmissense 1Likely Pathogenic (1)0.000008
174. c.5749G>T p.V1917Fmissense 1VUS favour pathogenic (1)0.000000
175. c.968T>A p.I323Nmissense 1Likely Pathogenic (1)0.000000
176. c.1013T>C p.V338Amissense 1VUS (1)0.000000
177. c.298G>A p.A100Tmissense 1VUS (1)0.000016
178. c.1625A>G p.K542Rmissense 1VUS (1)0.000000
179. c.2502C>G p.F834Lmissense 1Pathogenic (1)0.000000
180. c.694A>C p.N232Hmissense 1Likely Pathogenic (1)0.000000
181. c.789A>G p.I263Mmissense 1Likely Pathogenic (1)0.000000
182. c.1541G>A p.G514Dmissense 1VUS (1)0.000000
183. c.2699A>G p.D900Gmissense 1VUS favour pathogenic (1)0.000000
184. c.1352A>C p.Q451Pmissense 1VUS (1)0.000000
185. c.4418A>G p.E1473Gmissense 1VUS (1)0.000000
186. c.4985G>A p.R1662Hmissense 1VUS (1)0.000057
187. c.5172C>G p.I1724Mmissense 1VUS (1)0.000000
188. c.5725C>T p.R1909Wmissense 1VUS (1)0.000032
189. c.3593A>G p.D1198Gmissense 1VUS (1)0.000000
190. c.610C>T p.R204Cmissense 1Likely Pathogenic (1)0.000024
191. c.4030C>T p.R1344Wmissense 1VUS (1)0.000016
192. c.3373G>C p.E1125Qmissense 1VUS (1)0.000000
193. c.3622G>A p.D1208Nmissense 1VUS (1)0.000000
194. c.2631G>A p.M877Imissense 1VUS (1)0.000000
195. c.3899A>T p.Q1300Lmissense 1VUS (1)0.000000
196. c.2080C>T p.R694Cmissense 1Likely Pathogenic (1)0.000016
197. c.4144C>T p.R1382Wmissense 1VUS (1)0.000000
198. c.2906A>C p.H969Pmissense 1VUS (1)0.000000
199. c.1579C>A p.P527Tmissense 1VUS (1)0.000000
200. c.1345A>T p.T449Smissense 1Likely Pathogenic (1)0.000000
201. c.1804A>T p.N602Ymissense 1VUS (1)0.000000
202. c.3626A>G p.N1209Smissense 1VUS (1)0.000000
203. c.2644C>G p.Q882Emissense 1VUS favour pathogenic (1)0.000000
204. c.1060G>A p.G354Smissense 1Likely Pathogenic (1)0.000000
205. c.2782G>A p.D928Nmissense 1Likely Pathogenic (1)0.000000
206. c.1871A>G p.Y624Cmissense 1VUS favour pathogenic (1)0.000000
207. c.2217G>T p.R739Smissense 1Likely Pathogenic (1)0.000000
208. c.737A>T p.K246Imissense 1Likely Pathogenic (1)0.000000
209. c.5020G>A p.V1674Mmissense 1VUS (1)0.000024
210. c.2742G>T p.Q914Hmissense 1Likely Pathogenic (1)0.000000
211. c.2701G>C p.A901Pmissense 1Likely Pathogenic (1)0.000000
212. c.4436C>T p.T1479Imissense 1VUS favour pathogenic (1)0.000000
213. c.1969A>C p.K657Qmissense 1Likely Pathogenic (1)0.000000
214. c.3138G>A p.M1046Imissense 1VUS (1)0.000024
215. c.848A>G p.Y283Cmissense 1Likely Pathogenic (1)0.000000
216. c.2285A>G p.K762Rmissense 1Pathogenic (1)0.000000
217. c.731T>G p.F244Cmissense 1Likely Pathogenic (1)0.000000
218. c.2572C>G p.R858Gmissense 1VUS (1)0.000000
219. c.925G>A p.D309Nmissense 1Likely Pathogenic (1)0.000024
220. c.2389G>C p.A797Pmissense 1Likely Pathogenic (1)0.000000
221. c.137T>G p.F46Cmissense 1VUS (1)0.000000
222. c.2101G>A p.G701Smissense 1VUS favour pathogenic (1)0.000000
223. c.2846A>T p.E949Vmissense 1VUS favour pathogenic (1)0.000008
224. c.1216G>A p.V406Mmissense 1Likely Pathogenic (1)0.000000
225. c.2738T>C p.I913Tmissense 1VUS (1)0.000000
226. c.3664A>G p.S1222Gmissense 1VUS favour pathogenic (1)0.000000
227. c.1220G>T p.G407Vmissense 1VUS (1)0.000000
228. c.4816C>T p.R1606Cmissense 1Likely Pathogenic (1)0.000000
229. c.2206A>G p.I736Vmissense 1VUS (1)0.000008
230. c.5471A>G p.N1824Smissense 1VUS (1)0.000000
231. c.2498A>G p.Y833Cmissense 1VUS (1)0.000000
232. c.2570C>T p.T857Imissense 1VUS (1)0.000000
233. c.4636G>C p.E1546Qmissense 1VUS (1)0.000000
234. c.983A>G p.E328Gmissense 1Likely Pathogenic (1)0.000000
235. c.5029C>T p.R1677Cmissense 1VUS (1)0.000016
236. c.1148A>G p.K383Rmissense 1VUS (1)0.000000
237. c.3231T>G p.D1077Emissense 1VUS (1)0.000000
238. c.4664A>G p.E1555Gmissense 1VUS (1)0.000000
239. c.2683C>A p.Q895Kmissense 1VUS (1)0.000000
240. c.4132G>C p.D1378Hmissense 1VUS (1)0.000000
241. c.2707G>C p.E903Qmissense 1VUS (1)0.000000
242. c.2353A>G p.I785Vmissense 1VUS (1)0.000000
243. c.968T>C p.I323Tmissense 1VUS (1)0.000075
244. c.1357C>A p.R453Smissense 1Likely Pathogenic (1)0.000000
245. c.904C>A p.L302Mmissense 1VUS (1)0.000000
246. c.4540G>A p.E1514Kmissense 1VUS (1)0.000000
247. c.507A>T p.R169Smissense 1Likely Pathogenic (1)0.000000
248. c.1228T>G p.Y410Dmissense 1Likely Pathogenic (1)0.000000
249. c.3208G>A p.E1070Kmissense 1VUS (1)0.000008
250. c.2470G>C p.V824Lmissense 1VUS favour pathogenic (1)0.000000
251. c.2543A>G p.E848Gmissense 1Likely Pathogenic (1)0.000000
252. c.739T>C p.F247Lmissense 1Likely Pathogenic (1)0.000000
253. c.1608G>T p.E536Dmissense 1Likely Pathogenic (1)0.000000
254. c.707T>C p.V236Amissense 1VUS favour pathogenic (1)0.000000
255. c.1315A>T p.M439Lmissense 1VUS favour pathogenic (1)0.000016
256. c.2776C>G p.L926Vmissense 1VUS (1)0.000016
257. c.2105T>A p.I702Nmissense 1Pathogenic (1)0.000000
258. c.1166G>A p.G389Emissense 1VUS favour pathogenic (1)0.000000
259. c.2725A>G p.I909Vmissense 1VUS (1)0.000000
260. c.2708A>G p.E903Gmissense 1Likely Pathogenic (1)0.000000
261. c.2104A>G p.I702Vmissense 1VUS (1)0.000000
262. c.920C>T p.P307Lmissense 1VUS favour pathogenic (1)0.000000
263. c.506G>A p.R169Kmissense 1Likely Pathogenic (1)0.000000
264. c.727C>T p.R243Cmissense 1VUS favour pathogenic (1)0.000000
265. c.2549C>A p.A850Dmissense 1Likely Pathogenic (1)0.000000
266. c.2401T>A p.Y801Nmissense 1VUS (1)0.000000
267. c.2783A>C p.D928Amissense 1VUS (1)0.000000
268. c.1477_1478delAT frameshift 1VUS (1)0.000000
269. c.5773C>T p.R1925Cmissense 1VUS (1)0.000000
270. c.1544T>C p.M515Tmissense 1Pathogenic (1)0.000000
271. c.5332C>T p.H1778Ymissense 1VUS (1)0.000000
272. c.2525G>A p.S842Nmissense 1Pathogenic (1)0.000000
273. c.677C>T p.A226Vmissense 1VUS (1)0.000000
274. c.115G>A p.V39Mmissense 1VUS (1)0.000057
275. c.80A>G p.Q27Rmissense 1VUS (1)0.000000
276. c.3548T>A p.L1183Qmissense 1VUS (1)0.000000
277. c.4004C>T p.S1335Lmissense 1VUS (1)0.000033
278. c.1426C>G p.L476Vmissense 1VUS (1)0.000000
279. c.4343A>G p.N1448Smissense 1VUS (1)0.000000
280. c.4954G>T p.D1652Ymissense 1VUS (1)0.000024
281. c.3289G>A p.E1097Kmissense 1VUS (1)0.000000
282. c.5110C>T p.Q1704Xnonsense 1VUS (1)0.000000
283. c.5647G>A p.E1883Kmissense 1VUS (1)0.000000
284. c.1479G>A p.M493Imissense 1Likely Pathogenic (1)0.000000
285. c.3341G>A p.R1114Hmissense 1VUS (1)0.000000
286. c.3578G>A p.R1193Hmissense 1VUS (1)0.000000
287. c.2606G>T p.R869Lmissense 1VUS (1)0.000000
288. c.2894A>G p.E965Gmissense 1VUS (1)0.000000
289. c.4078G>A p.V1360Imissense 1VUS (1)0.000057
290. c.161G>A p.R54Qmissense 1VUS (1)0.000016
291. c.1753A>T p.I585Fmissense 1VUS (1)0.000000
292. c.964T>A p.S322Tmissense 1VUS (1)0.000000
293. c.2342T>C p.L781Pmissense 1Likely Pathogenic (1)0.000000
294. c.5696T>C p.V1899Amissense 1VUS (1)0.000008
295. c.438G>T p.K146Nmissense 1Likely Pathogenic (1)0.000000
296. c.1490A>G p.E497Gmissense 1Likely Pathogenic (1)0.000000
297. c.1496A>G p.E499Gmissense 1VUS favour pathogenic (1)0.000000
298. c.1157A>G p.Y386Cmissense 1Likely Pathogenic (1)0.000000
299. c.4864C>T p.L1622Fmissense 1VUS favour pathogenic (1)0.000000
300. c.2899G>A p.E967Kmissense 1Likely Pathogenic (1)0.000000
301. c.5192A>T p.D1731Vmissense 1VUS favour pathogenic (1)0.000000
302. c.2680G>A p.E894Kmissense 1VUS (1)0.000000
303. c.5156A>G p.Q1719Rmissense 1VUS favour pathogenic (1)0.000000
304. c.2129C>T p.P710Lmissense 1Likely Pathogenic (1)0.000000
305. c.3046A>G p.K1016Emissense 1VUS (1)0.000008
306. c.710G>A p.R237Qmissense 1VUS (1)0.000000
307. c.809A>G p.K270Rmissense 1VUS (1)0.000000
308. c.1514G>T p.G505Vmissense 1VUS (1)0.000000
309. c.2178C>A p.N726Kmissense 1VUS favour pathogenic (1)0.000000
310. c.1208G>T p.R403Lmissense 1Pathogenic (1)0.000000
311. c.4156C>T p.L1386Fmissense 1VUS favour pathogenic (1)0.000000
312. c.5002A>G p.K1668Emissense 1VUS (1)0.000000
313. c.135G>T p.E45Dmissense 1VUS (1)0.000000
314. c.2425G>T p.D809Ymissense 1VUS (1)0.000049
315. c.5291T>A p.M1764Kmissense 1VUS (1)0.000000
316. c.5740G>A p.E1914Kmissense 1VUS (1)0.000000
317. c.500C>T p.T167Imissense 1VUS (1)0.000000
318. c.3803G>C p.R1268Pmissense 1VUS (1)0.000000
319. c.4048G>A p.E1350Kmissense 1VUS (1)0.000000
320. c.4532A>C p.D1511Amissense 1VUS (1)0.000000
321. c.4108C>A p.Q1370Kmissense 1VUS (1)0.000000
322. c.4276G>A p.E1426Kmissense 1VUS (1)0.000000
323. c.3064A>G p.K1022Emissense 1VUS (1)0.000000
324. c.3428T>G p.L1143Rmissense 1VUS (1)0.000000
325. c.3974C>T p.A1325Vmissense 1VUS (1)0.000026
326. c.2221G>C p.G741Rmissense 1Pathogenic (1)0.000000
327. c.2273T>G p.F758Cmissense 1Likely Pathogenic (1)0.000000
328. c.1121A>T p.E374Vmissense 1Likely Pathogenic (1)0.000000
329. c.3236G>A p.R1079Qmissense 1VUS (1)0.000008
330. c.2700T>A p.D900Emissense 1VUS (1)0.000000
331. c.1499A>C p.E500Amissense 1VUS favour pathogenic (1)0.000000
332. c.1346C>T p.T449Imissense 1VUS (1)0.000000
333. c.2746G>A p.E916Kmissense 1VUS favour pathogenic (1)0.000000
334. c.2191C>G p.P731Amissense 1Likely Pathogenic (1)0.000000
335. c.793A>T p.T265Smissense 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.