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