MYBPC3 variants in HCM cohorts

MYBPC3 gene summary
Overview of MYBPC3 in HCM

The table below lists the 1176 rare (MAF<0.0001 in ExAC) protein-altering MYBPC3 variants identified in a cohort of 6179 HCM patients (3267 patients from OMGL, 2912 patients from LMM). When this rare variant frequency of 0.19032 is compared with a background population rate of 0.01970, there is a statistically significant case excess of 0.17062 (p<0.0001), which suggests that approximately 1,058 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 (6179)▼OMGL classLMM class ExAC frequency
1. c.1504C>T p.R502Wmissense 104Pathogenic (59)Pathogenic (45)0.000024
2. c.636C>G p.S212Rmissense 2VUS favour pathogenic (2)0.000000
3. c.2518G>A p.V840Mmissense 1VUS (1)0.000016
4. c.49C>T p.R17Wmissense 1VUS (1)0.000023
5. c.1672G>A p.A558Tmissense 1VUS (1)0.000008
6. c.1456T>G p.W486Gmissense 2VUS (1)Likely Pathogenic (1)0.000000
7. c.3797G>A p.C1266Ymissense 1Likely Pathogenic (1)0.000000
8. c.290C>T p.A97Vmissense 1VUS favour pathogenic (1)0.000000
9. c.373G>T p.A125Smissense 2VUS (1)VUS (1)0.000000
10. c.3083C>G p.T1028Smissense 1VUS (1)0.000000
11. c.3415G>A p.V1139Imissense 1VUS (1)0.000087
12. c.2210C>T p.T737Mmissense 4VUS (3)VUS (1)0.000050
13. c.1021G>A p.G341Smissense 2VUS (1)VUS favour pathogenic (1)0.000025
14. c.326C>T p.A109Vmissense 1VUS (1)0.000000
15. c.2723A>G p.Y908Cmissense 1VUS (1)0.000062
16. c.3580G>A p.A1194Tmissense 1VUS (1)0.000008
17. c.1188G>T p.W396Cmissense 1VUS (1)0.000000
18. c.481C>A p.P161Tmissense 1VUS favour pathogenic (1)0.000041
19. c.436A>C p.T146Pmissense 1VUS (1)0.000000
20. c.3656T>C p.L1219Pmissense 1VUS (1)0.000000
21. c.3019T>C p.W1007Rmissense 1VUS (1)0.000000
22. c.931T>A p.S311Tmissense 1VUS (1)0.000000
23. c.2873C>T p.T958Imissense 4VUS (1)VUS favour benign (3)0.000065
24. c.3572C>T p.S1191Lmissense 1VUS (1)0.000016
25. c.3739G>A p.D1247Nmissense 1VUS (1)0.000000
26. c.2432A>G p.K811Rmissense 2VUS (2)0.000000
27. c.1483C>G p.R495Gmissense 14Likely Pathogenic (10)Likely Pathogenic (4)0.000000
28. c.2909G>A p.R970Qmissense 1Likely Pathogenic (1)0.000032
29. c.3206C>A p.P1069Hmissense 1Likely Pathogenic (1)0.000000
30. c.2030C>T p.P677Lmissense 1VUS (1)0.000000
31. c.1455A>T p.K485Nmissense 1VUS (1)0.000000
32. c.1291G>A p.D431Nmissense 1VUS (1)0.000028
33. c.1231A>G p.I411Vmissense 1VUS (1)0.000000
34. c.631G>A p.D211Nmissense 1VUS (1)0.000009
35. c.1720C>T p.R574Wmissense 3VUS (3)0.000054
36. c.932C>T p.S311Lmissense 1VUS (1)0.000000
37. c.1591G>A p.G531Rmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000017
38. c.1397T>A p.M466Kmissense 1VUS (1)0.000008
39. c.2993A>G p.Q998Rmissense 1VUS favour pathogenic (1)0.000000
40. c.2269G>A p.V757Mmissense 2VUS (1)VUS (1)0.000066
41. c.2374T>C p.W792Rmissense 5Likely Pathogenic (5)0.000000
42. c.2828G>A p.R943Qmissense 1VUS (1)0.000025
43. c.1213A>G p.M405Vmissense 2VUS (1)Pathogenic (1)0.000000
44. c.241G>T p.V81Fmissense 1VUS (1)0.000000
45. c.2671C>T p.R891Wmissense 1Likely Pathogenic (1)0.000031
46. c.1841A>G p.Y614Cmissense 2VUS (1)VUS favour pathogenic (1)0.000000
47. c.1A>T p.Met1?missense 1Likely Pathogenic (1)0.000000
48. c.2939G>A p.R980Hmissense 1VUS (1)0.000000
49. c.3064C>T p.R1022Cmissense 5VUS (1)VUS favour pathogenic (4)0.000008
50. c.104G>A p.R35Qmissense 1VUS (1)0.000079
51. c.2449C>T p.R817Wmissense 2VUS (1)VUS (1)0.000000
52. c.451G>A p.D151Nmissense 1VUS (1)0.000041
53. c.2641G>A p.V881Imissense 1VUS (1)0.000018
54. c.1950C>G p.D650Emissense 1VUS (1)0.000000
55. c.3752A>G p.Y1251Cmissense 2VUS (2)0.000000
56. c.3713T>C p.L1238Pmissense 1Likely Pathogenic (1)0.000000
57. c.518C>A p.T173Nmissense 1VUS (1)0.000000
58. c.3373G>A p.V1125Mmissense 2VUS (1)VUS favour pathogenic (1)0.000022
59. c.2249C>T p.T750Mmissense 1Likely Pathogenic (1)0.000024
60. c.3452C>T p.A1151Vmissense 1VUS (1)0.000078
61. c.2504G>T p.R835Lmissense 1Likely Pathogenic (1)0.000074
62. c.3614G>A p.R1205Qmissense 1VUS (1)0.000016
63. c.1789C>T p.R597Wmissense 1VUS (1)0.000038
64. c.1021G>C p.G341Rmissense 1VUS (1)0.000000
65. c.1505G>T p.R502Lmissense 1VUS favour pathogenic (1)0.000000
66. c.1112C>T p.P371Lmissense 1VUS (1)0.000028
67. c.710A>C p.Y237Smissense 6Likely Pathogenic (3)Likely Pathogenic (3)0.000000
68. c.2429G>A p.R810Hmissense 19VUS (11)VUS favour pathogenic (8)0.000033
69. c.188G>A p.R63Qmissense 1VUS (1)0.000039
70. c.814C>T p.R272Cmissense 2VUS (2)0.000083
71. c.799C>G p.L267Vmissense 1VUS (1)0.000080
72. c.1790G>A p.R597Qmissense 3VUS (1)VUS favour pathogenic (2)0.000000
73. c.713G>A p.R238Hmissense 1VUS (1)0.000074
74. c.1483C>T p.R495Wmissense 4Likely Pathogenic (2)VUS favour pathogenic (2)0.000000
75. c.2560A>G p.M854Vmissense 1VUS (1)0.000000
76. c.2320G>A p.A774Tmissense 2VUS (2)0.000000
77. c.3065G>A p.R1022Hmissense 1VUS favour pathogenic (1)0.000000
78. c.3746G>T p.G1249Vmissense 1VUS (1)0.000000
79. c.3098G>A p.R1033Qmissense 1VUS (1)0.000000
80. c.2450G>A p.R817Qmissense 3VUS favour pathogenic (3)0.000016
81. c.3798C>G p.C1266Wmissense 4VUS (4)0.000000
82. c.853G>A p.D285Nmissense 1VUS (1)0.000000
83. c.1778C>T p.S593Fmissense 1VUS favour pathogenic (1)0.000034
84. c.3281A>T p.N1094Imissense 1VUS (1)0.000000
85. c.1418T>C p.F473Smissense 1VUS (1)0.000000
86. c.3728C>G p.P1243Rmissense 1VUS (1)0.000000
87. c.2968C>G p.P990Amissense 1Likely Pathogenic (1)0.000000
88. c.3005G>A p.R1002Qmissense 2VUS (2)0.000046
89. c.3413G>C p.R1138Pmissense 1VUS (1)0.000000
90. c.2308G>A p.D770Nmissense 11Likely Pathogenic (5)Likely Pathogenic (6)0.000008
91. c.2312T>C p.V771Amissense 1VUS (1)0.000000
92. c.1505G>A p.R502Qmissense 8Pathogenic (2)Pathogenic (6)0.000000
93. c.1471G>A p.V491Mmissense 1VUS (1)0.000058
94. c.2219G>C p.G740Amissense 2VUS (2)0.000000
95. c.557C>T p.P186Lmissense 2VUS (2)0.000047
96. c.2234A>G p.D745Gmissense 1VUS (1)0.000000
97. c.1685C>T p.A562Vmissense 1VUS (1)0.000008
98. c.3065G>C p.R1022Pmissense 6Likely Pathogenic (5)VUS favour pathogenic (1)0.000025
99. c.844C>T p.R282Wmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
100. c.818G>A p.R273Hmissense 2VUS (2)0.000042
101. c.1080G>C p.K360Nmissense 1VUS (1)0.000000
102. c.1756C>G p.P586Amissense 1Likely Pathogenic (1)0.000000
103. c.772G>A p.E258Kmissense 68Pathogenic (47)Pathogenic (21)0.000039
104. c.1153G>A p.V385Mmissense 1VUS (1)0.000010
105. c.1097A>C p.Q366Pmissense 1VUS (1)0.000000
106. c.148A>G p.S50Gmissense 1VUS (1)0.000038
107. c.1828G>C p.D610Hmissense 3VUS (1)VUS favour benign (2)0.000058
108. c.1591G>C p.G531Rmissense 1VUS favour pathogenic (1)0.000017
109. c.365C>A p.A122Dmissense 1VUS (1)0.000000
110. c.1540A>G p.I514Vmissense 1VUS (1)0.000008
111. c.701C>A p.T234Nmissense 1Likely Pathogenic (1)0.000000
112. c.3676C>T p.R1226Cmissense 2VUS (1)VUS (1)0.000058
113. c.1358C>T p.P453Lmissense 1VUS (1)0.000008
114. c.442G>A p.G148Rmissense 11Likely Pathogenic (4)VUS favour pathogenic (7)0.000042
115. c.3049G>A p.E1017Kmissense 1VUS favour benign (1)0.000085
116. c.2938C>T p.R980Cmissense 1VUS (1)0.000062
117. c.2170C>T p.R724Wmissense 1VUS (1)0.000019
118. c.2533C>T p.R845Cmissense 1VUS favour pathogenic (1)0.000000
119. c.2525A>G p.Y842Cmissense 1VUS (1)0.000000
120. c.3G>C p.Met1?missense 1Likely Pathogenic (1)0.000000
121. c.2557G>A p.G853Smissense 1VUS (1)0.000008
122. c.2882C>T p.P961Lmissense 2VUS (2)0.000048
123. c.1037G>A p.R346Hmissense 3VUS (1)VUS (2)0.000000
124. c.3763G>A p.A1255Tmissense 4VUS (3)VUS favour pathogenic (1)0.000075
125. c.1294G>A p.A432Tmissense 1VUS (1)0.000037
126. c.566T>A p.V189Dmissense 1VUS (1)0.000000
127. c.2197C>T p.R733Cmissense 2Likely Pathogenic (1)VUS (1)0.000085
128. c.2436G>T p.K812Nmissense 1VUS (1)0.000000
129. c.3605G>A p.C1202Ymissense 1Likely Pathogenic (1)0.000000
130. c.3751T>C p.Y1251Hmissense 2VUS (2)0.000000
131. c.1960C>T p.R654Cmissense 1VUS favour benign (1)0.000008
132. c.2834G>A p.R945Qmissense 1VUS (1)0.000000
133. c.1624G>C p.E542Qmissense 41Pathogenic (24)Likely Pathogenic (17)0.000024
134. c.3256T>C p.W1086Rmissense 1VUS (1)0.000000
135. c.2198G>A p.R733Hmissense 1VUS (1)0.000034
136. c.3316G>A p.D1106Nmissense 1VUS (1)0.000061
137. c.2708G>A p.G903Dmissense 1Likely Pathogenic (1)0.000000
138. c.2503C>T p.R835Cmissense 1VUS (1)0.000024
139. c.2265C>A p.N755Kmissense 1Pathogenic (1)0.000000
140. c.655G>C p.V219Lmissense 26Likely Pathogenic (18)Likely Pathogenic (8)0.000000
141. c.1535T>A p.L512Qmissense 1VUS favour pathogenic (1)0.000000
142. c.1886T>C p.L629Pmissense 2VUS (2)0.000000
143. c.994G>A p.E332Kmissense 1VUS (1)0.000009
144. c.2573G>A p.S858Nmissense 6Likely Pathogenic (2)VUS favour pathogenic (4)0.000000
145. c.1174G>T p.A392Smissense 1VUS (1)0.000000
146. c.187C>T p.R63Wmissense 1VUS (1)0.000077
147. c.3742G>A p.G1248Rmissense 1VUS (1)0.000033
148. c.1828G>A p.D610Nmissense 5VUS (2)VUS (3)0.000000
149. c.1343T>C p.F448Smissense 1Likely Pathogenic (1)0.000000
150. c.1586C>G p.T529Smissense 1VUS favour pathogenic (1)0.000000
151. c.103C>T p.R35Wmissense 1VUS (1)0.000056
152. c.532G>A p.V178Mmissense 3VUS (1)VUS favour pathogenic (2)0.000020
153. c.2654C>T p.T885Mmissense 1VUS (1)0.000022
154. c.3277G>T p.G1093Cmissense 4VUS (3)VUS (1)0.000020
155. c.3548T>G p.F1183Cmissense 1Likely Pathogenic (1)0.000000
156. c.3791G>A p.C1264Ymissense 1VUS (1)0.000008
157. c.1934C>T p.P645Lmissense 2VUS (2)0.000000
158. c.3771C>A p.N1257Kmissense 9Likely Pathogenic (9)0.000000
159. c.223G>A p.D75Nmissense 1VUS favour pathogenic (1)0.000091
160. c.355G>A p.E119Kmissense 3VUS (3)0.000000
161. c.3364A>T p.T1122Smissense 1Likely Pathogenic (1)0.000000
162. c.3613C>T p.R1205Wmissense 10Likely Pathogenic (10)0.000016
163. c.3470C>T p.P1157Lmissense 2VUS (2)0.000093
164. c.3614G>C p.R1205Pmissense 1Likely Pathogenic (1)0.000000
165. c.2953A>G p.K985Emissense 1Pathogenic (1)0.000000
166. c.2459G>A p.R820Qmissense 6VUS (5)Likely Pathogenic (1)0.000016
167. c.2381C>A p.P794Qmissense 1VUS (1)0.000000
168. c.1484G>A p.R495Qmissense 14Likely Pathogenic (4)VUS favour pathogenic (10)0.000008
169. c.1072G>A p.D358Nmissense 1VUS (1)0.000008
170. c.2300A>G p.K767Rmissense 2VUS (2)0.000016
171. c.1433C>T p.S478Lmissense 1Likely Pathogenic (1)0.000017
172. c.1123G>A p.V375Mmissense 3VUS (3)0.000009
173. c.1766G>A p.R589Hmissense 2VUS (2)0.000000
174. c.1731G>C p.W577Cmissense 1VUS (1)0.000000
175. c.1000G>T p.E334Xnonsense 1Pathogenic (1)0.000000
176. c.3335G>A p.W1112Xnonsense 1Pathogenic (1)0.000000
177. c.2747G>A p.W916Xnonsense 1Pathogenic (1)0.000000
178. c.3257G>A p.W1086Xnonsense 1Pathogenic (1)0.000021
179. c.2965G>T p.E989Xnonsense 1Pathogenic (1)0.000000
180. c.2247C>A p.Y749Xnonsense 1Pathogenic (1)0.000000
181. c.711C>A p.Y237Xnonsense 1Pathogenic (1)0.000000
182. c.3811C>T p.R1271Xnonsense 2VUS (1)Pathogenic (1)0.000025
183. c.1120C>T p.Q374Xnonsense 1Pathogenic (1)0.000000
184. c.2454G>A p.W818Xnonsense 4Pathogenic (4)0.000000
185. c.3753T>G p.Y1251Xnonsense 1Pathogenic (1)0.000000
186. c.3825A>G p.X1275TrpextX77nonsense 1Likely Pathogenic (1)0.000000
187. c.3357C>A p.Y1119Xnonsense 1Pathogenic (1)0.000000
188. c.2182G>T p.E728Xnonsense 4Pathogenic (4)0.000000
189. c.2920C>T p.Q974Xnonsense 3Pathogenic (3)0.000000
190. c.2541C>A p.Y847Xnonsense 1Pathogenic (1)0.000000
191. c.2905C>T p.Q969Xnonsense 5Pathogenic (2)Pathogenic (3)0.000000
192. c.2048G>A p.W683Xnonsense 1Pathogenic (1)0.000000
193. c.2371C>T p.Q791Xnonsense 1Pathogenic (1)0.000000
194. c.3286G>T p.E1096Xnonsense 4Pathogenic (3)Pathogenic (1)0.000000
195. c.1458G>A p.W486Xnonsense 1Pathogenic (1)0.000000
196. c.2584C>T p.Q862Xnonsense 1Pathogenic (1)0.000000
197. c.2065C>T p.Q689Xnonsense 1Pathogenic (1)0.000000
198. c.2670G>A p.W890Xnonsense 7Pathogenic (7)0.000000
199. c.1201C>T p.Q401Xnonsense 1Pathogenic (1)0.000000
200. c.484C>T p.Q162Xnonsense 4Pathogenic (4)0.000000
201. c.1156G>T p.E386Xnonsense 1Pathogenic (1)0.000000
202. c.3694A>T p.K1232Xnonsense 1Pathogenic (1)0.000000
203. c.2437A>T p.K813Xnonsense 1Pathogenic (1)0.000000
204. c.3253G>T p.E1085Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
205. c.993_994insT p.E332Xnonsense 1Pathogenic (1)0.000000
206. c.1405C>T p.Q469Xnonsense 1Pathogenic (1)0.000000
207. c.1693A>T p.K565Xnonsense 1Pathogenic (1)0.000000
208. c.126G>A p.W42Xnonsense 2Pathogenic (2)0.000000
209. c.1575T>G p.Y525Xnonsense 1Pathogenic (1)0.000000
210. c.3408C>A p.Y1136Xnonsense 4Pathogenic (3)Pathogenic (1)0.000000
211. c.3233G>A p.W1078Xnonsense 3Pathogenic (3)0.000022
212. c.3163A>T p.K1055Xnonsense 4Pathogenic (4)0.000000
213. c.3129C>A p.Y1043Xnonsense 3Pathogenic (3)0.000000
214. c.3332_3335dupAGTG p.W1112Xnonsense 1Pathogenic (1)0.000000
215. c.2953A>T p.K985Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
216. c.613C>T p.Q205Xnonsense 1Pathogenic (1)0.000000
217. c.1303C>T p.Q435Xnonsense 1Pathogenic (1)0.000000
218. c.1457G>A p.W486Xnonsense 1Pathogenic (1)0.000000
219. c.2827C>T p.R943Xnonsense 18Pathogenic (11)Pathogenic (7)0.000017
220. c.747C>A p.C249Xnonsense 2Pathogenic (2)0.000000
221. c.3697C>T p.Q1233Xnonsense 13Likely Pathogenic (4)Pathogenic (9)0.000008
222. c.1210C>T p.Q404Xnonsense 2Pathogenic (2)0.000000
223. c.932C>A p.S311Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
224. c.1924C>T p.Q642Xnonsense 1Pathogenic (1)0.000000
225. c.1869C>A p.C623Xnonsense 2Pathogenic (2)0.000000
226. c.966G>A p.W322Xnonsense 1Pathogenic (1)0.000000
227. c.3181C>T p.Q1061Xnonsense 4Pathogenic (3)Pathogenic (1)0.000016
228. c.2526C>G p.Y842Xnonsense 2Pathogenic (2)0.000000
229. c.333_334insT p.E112Xnonsense 1Pathogenic (1)0.000000
230. c.999C>G p.Y333Xnonsense 2Pathogenic (2)0.000000
231. c.2748G>A p.W916Xnonsense 1Pathogenic (1)0.000000
232. c.1273C>T p.Q425Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
233. c.655-2del essential splice site 1Pathogenic (1)0.000000
234. c.1090+2T>C essential splice site 1Pathogenic (1)0.000000
235. c.1090+1G>T essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
236. c.1351+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
237. c.*26+2T>C essential splice site 1Likely Pathogenic (1)0.000000
238. c.506-1G>T essential splice site 1Pathogenic (1)0.000000
239. c.3330+1G>C essential splice site 1Pathogenic (1)0.000000
240. c.821+2T>C essential splice site 5Pathogenic (4)Pathogenic (1)0.000000
241. c.1624+1G>A essential splice site 1Pathogenic (1)0.000000
242. c.2308+1G>A essential splice site 3Pathogenic (2)Pathogenic (1)0.000000
243. c.821+1G>A essential splice site 5Pathogenic (1)Pathogenic (4)0.000043
244. c.2905+1G>A essential splice site 7Pathogenic (3)Pathogenic (4)0.000000
245. c.2309-2A>G essential splice site 9Pathogenic (9)0.000000
246. c.3627+1G>A essential splice site 8Pathogenic (6)Pathogenic (2)0.000000
247. c.655-1G>A essential splice site 1Pathogenic (1)0.000000
248. c.772+1G>A essential splice site 3Pathogenic (1)Pathogenic (2)0.000000
249. c.3815-1G>A essential splice site 1Pathogenic (1)0.000000
250. c.1458-1G>A essential splice site 1Pathogenic (1)0.000000
251. c.3331-1G>A essential splice site 1Pathogenic (1)0.000000
252. c.2905+2dup essential splice site 2Likely Pathogenic (2)0.000000
253. c.821+2T>G essential splice site 1Pathogenic (1)0.000000
254. c.3330+2T>G essential splice site 11Pathogenic (11)0.000000
255. c.1090+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
256. c.2905+1G>C essential splice site 1Pathogenic (1)0.000000
257. c.1351+2T>C essential splice site 1Pathogenic (1)0.000000
258. c.2738-2A>G essential splice site 1Pathogenic (1)0.000000
259. c.3627+1G>T essential splice site 2Pathogenic (2)0.000000
260. c.1897+1G>A essential splice site 2Pathogenic (2)0.000000
261. c.3490+1G>A essential splice site 1Pathogenic (1)0.000000
262. c.927-2A>G essential splice site 10Pathogenic (8)Pathogenic (2)0.000000
263. c.2603-2_2603-1delinsGA essential splice site 1Pathogenic (1)0.000000
264. c.2304_2308+2delCATCGGT essential splice site 1Pathogenic (1)0.000000
265. c.3491-2A>T essential splice site 3Pathogenic (3)0.000000
266. c.3190+1G>A essential splice site 3Pathogenic (3)0.000000
267. c.1898-1G>A essential splice site 1Pathogenic (1)0.000000
268. c.1224-1G>T essential splice site 1Pathogenic (1)0.000000
269. c.1224-2A>G essential splice site 1Pathogenic (1)0.000000
270. c.2737+2T>A essential splice site 1Pathogenic (1)0.000000
271. c.2308+1G>T essential splice site 1Pathogenic (1)0.000000
272. c.1624+2T>C essential splice site 1Pathogenic (1)0.000000
273. c.2309-1G>A essential splice site 3Pathogenic (3)0.000000
274. c.25+1G>A essential splice site 2Pathogenic (2)0.000000
275. c.2737+1G>C essential splice site 1Pathogenic (1)0.000000
276. c.3190+2T>G essential splice site 9Pathogenic (7)Pathogenic (2)0.000016
277. c.2149-1G>A essential splice site 1Pathogenic (1)0.000000
278. c.821+1G>C essential splice site 1Pathogenic (1)0.000000
279. c.2906-2A>G essential splice site 1Pathogenic (1)0.000000
280. c.2995-1G>A essential splice site 1Pathogenic (1)0.000000
281. c.1928-2A>G essential splice site 30Pathogenic (10)Pathogenic (20)0.000000
282. c.2603-1G>C essential splice site 1Pathogenic (1)0.000000
283. c.1223+2T>C essential splice site 1Pathogenic (1)0.000000
284. c.506-1G>A essential splice site 1Pathogenic (1)0.000000
285. c.26-2A>G essential splice site 4Pathogenic (4)0.000051
286. c.121dup p.Arg41Profs*8frameshift 1Pathogenic (1)0.000000
287. c.351_352del p.Gly118Argfs*8frameshift 1Pathogenic (1)0.000000
288. c.3476_3477delTT frameshift 1Pathogenic (1)0.000000
289. c.2780_2781delCA frameshift 1Pathogenic (1)0.000000
290. c.2040_2041insT p.Val681CysfsX12frameshift 1Pathogenic (1)0.000000
291. c.1699_1700delGA p.Glu567GlyfsX4frameshift 1Pathogenic (1)0.000000
292. c.1999_2000delinsG p.Leu667AspfsX15frameshift 2Pathogenic (1)Pathogenic (1)0.000000
293. c.2394_2395insT p.Gly799TrpfsX34frameshift 1Pathogenic (1)0.000000
294. c.3043dup p.Ala1015Glyfs*36frameshift 1Pathogenic (1)0.000000
295. c.3166_3167insG p.Ala1056GlyfsX9frameshift 1Pathogenic (1)0.000000
296. c.1895delT p.Met632ArgfsX31frameshift 2Pathogenic (2)0.000000
297. c.2690_2696del p.Gly897Glufs*25frameshift 1Pathogenic (1)0.000000
298. c.2188del p.Thr730Profs*24frameshift 1Pathogenic (1)0.000000
299. c.2807dup p.Ala938Glyfs*113frameshift 1Pathogenic (1)0.000000
300. c.3476_3479dupTTAT p.Pro1161TyrfsX9frameshift 1Pathogenic (1)0.000000
301. c.2429_2503delins23 p.Arg810Profs*10frameshift 1Pathogenic (1)0.000000
302. c.982delG frameshift 1Pathogenic (1)0.000000
303. c.1797del p.His599Glnfs*3frameshift 1Pathogenic (1)0.000000
304. c.1357_1358delCC frameshift 2Pathogenic (2)0.000000
305. c.391dup p.Ala131Glyfs*22frameshift 1Pathogenic (1)0.000000
306. c.1352_1353del p.Glu451Alafs*23frameshift 1Pathogenic (1)0.000000
307. c.731del p.Lys244Argfs*56frameshift 1Pathogenic (1)0.000000
308. c.177dup p.Glu60Argfs*53frameshift 1Pathogenic (1)0.000000
309. c.3776delA frameshift 1Pathogenic (1)0.000000
310. c.3226_3227insT frameshift 18Pathogenic (12)Pathogenic (6)0.000000
311. c.1892delT frameshift 1Pathogenic (1)0.000000
312. c.177_187del p.Glu60AlafsX49frameshift 3Pathogenic (2)Pathogenic (1)0.000000
313. c.3605delG frameshift 1Pathogenic (1)0.000000
314. c.2604_2605delinsA p.S871fsframeshift 10Pathogenic (8)Pathogenic (2)0.000000
315. c.2524dup p.Tyr842Leufs*42frameshift 2Pathogenic (2)0.000000
316. c.3271del p.Asp1091Metfs*98frameshift 2Pathogenic (2)0.000000
317. c.2718_2719dup p.Glu907Glyfs*18frameshift 1Pathogenic (1)0.000000
318. c.551_552insT p.Lys185GlufsX56frameshift 1Pathogenic (1)0.000000
319. c.2373_2374insG p.Trp792ValfsTer41frameshift 66Pathogenic (40)Pathogenic (26)0.000037
320. c.1377delC frameshift 1Pathogenic (1)0.000000
321. c.2534_2538delGCGTC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
322. c.2267delC frameshift 5Pathogenic (5)0.000000
323. c.1569dup p.His524Alafs*7frameshift 1Pathogenic (1)0.000000
324. c.3288delG frameshift 1Pathogenic (1)0.000000
325. c.1376_1377del p.Pro459Leufs*15frameshift 1Pathogenic (1)0.000000
326. c.611_618delinsT p.Gly204Valfs*94frameshift 1Pathogenic (1)0.000000
327. c.100_110dup p.Val38Serfs*5frameshift 1Pathogenic (1)0.000000
328. c.2610_2611insC p.Ser871GlnfsX13frameshift 1Pathogenic (1)0.000000
329. c.3600_3609delCTGCTGTGCT frameshift 3Pathogenic (3)Pathogenic (0)0.000000
330. c.2943_2947delGACCA frameshift 2Pathogenic (2)0.000000
331. c.833delG p.Gly278GlufsX22frameshift 3Pathogenic (2)Pathogenic (1)0.000000
332. c.1628delA frameshift 1Pathogenic (1)0.000000
333. c.2113_2114insA p.Thr705AsnfsX3frameshift 1Pathogenic (1)0.000000
334. c.3068_3069insA p.Asn1023LysfsX28frameshift 1Pathogenic (1)0.000000
335. c.2875_2876delAC p.Thr959GlyfsX91frameshift 1Pathogenic (1)0.000000
336. c.2610delC frameshift 5Pathogenic (5)0.000000
337. c.3690_3691delCA p.Phe1230LeufsX11frameshift 1Pathogenic (1)0.000000
338. c.3316del p.Asp1106Thrfs*83frameshift 1Pathogenic (1)0.000000
339. c.2161_2168del p.Thr721Profs*23frameshift 1Pathogenic (1)0.000000
340. c.2789del p.Leu930Argfs*2frameshift 1Pathogenic (1)0.000000
341. c.2502del p.Arg835Alafs*2frameshift 1Pathogenic (1)0.000000
342. c.2558delG frameshift 3Pathogenic (1)Pathogenic (2)0.000000
343. c.913_914delTT frameshift 5Pathogenic (5)0.000000
344. c.1038_1042dupCGGCA frameshift 2Pathogenic (1)Pathogenic (1)0.000008
345. c.2490_2491insT p.His831SerfsTer2frameshift 8Pathogenic (7)Pathogenic (1)0.000024
346. c.2163delC p.Glu722ArgfsX32frameshift 1Pathogenic (1)0.000000
347. c.211_212delinsTA p.Val71*frameshift 1Pathogenic (1)0.000000
348. c.3735delC frameshift 1Likely Pathogenic (1)0.000000
349. c.2013_2016delinsGG p.Pro672AspfsX20frameshift 1Pathogenic (1)0.000000
350. c.431_432delGT p.Gly144AlafsX8frameshift 1Pathogenic (1)0.000000
351. c.459delC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
352. c.3040delC p.Leu1014TrpfsX6frameshift 1Pathogenic (1)0.000000
353. c.1863delC p.Phe621LeufsX42frameshift 2Pathogenic (2)0.000000
354. c.2311_2312insG p.Val771GlyfsX62frameshift 3Pathogenic (3)0.000000
355. c.2512dup p.Glu838Glyfs*46frameshift 1Pathogenic (1)0.000000
356. c.2864_2865delCT frameshift 14Pathogenic (8)Pathogenic (6)0.000000
357. c.1266_1267insTGAT p.Ile423*frameshift 1Pathogenic (1)0.000000
358. c.2833_2834delCG frameshift 1Pathogenic (1)0.000000
359. c.1168delC frameshift 1Pathogenic (1)0.000000
360. c.2545del p.Val849Serfs*30frameshift 3Pathogenic (3)0.000000
361. c.1359del p.Val454Cysfs*12frameshift 1Pathogenic (1)0.000000
362. c.743_746delACTG frameshift 1Pathogenic (1)0.000000
363. c.443dup p.Ala149Serfs*4frameshift 2Pathogenic (2)0.000000
364. c.255del p.Ser86Profs*10frameshift 1Pathogenic (1)0.000000
365. c.553_562del p.Lys185Trpfs*12frameshift 1Pathogenic (1)0.000000
366. c.436_437insA p.Thr146AsnfsX7frameshift 2Pathogenic (2)0.000000
367. c.3624delC frameshift 3Pathogenic (1)Pathogenic (2)0.000000
368. c.2556_2557delinsTCT p.Gly853fsframeshift 5Pathogenic (4)Pathogenic (1)0.000000
369. c.3192_3193insC p.Lys1065GlnfsX12frameshift 2Pathogenic (2)0.000000
370. c.3792_3793del p.Cys1264*frameshift 1Likely Pathogenic (1)0.000000
371. c.2517_2538del p.Val840ThrfsX32frameshift 1Pathogenic (1)0.000000
372. c.1678delG p.Asp560ThrfsX19frameshift 1Pathogenic (1)0.000000
373. c.3297dup p.Tyr1100Valfs*49frameshift 1Pathogenic (1)0.000000
374. c.2149_2737del p.Leu717Alafs*11frameshift 1Pathogenic (1)0.000000
375. c.3617delG frameshift 1Pathogenic (1)0.000000
376. c.533delT p.Val178GlyfsX7frameshift 1Pathogenic (1)0.000000
377. c.2524_2525insT p.Tyr842LeufsX42frameshift 1Pathogenic (1)0.000000
378. c.1800delA frameshift 1Pathogenic (1)0.000000
379. c.3624_3625insC p.Lys1209GlnfsX33frameshift 2Pathogenic (2)0.000000
380. c.1523_1525delinsT p.Gln508Leufs*22frameshift 1Pathogenic (1)0.000000
381. c.2054_2067+11del p.Lys685Argfs*3frameshift 1Pathogenic (1)0.000000
382. c.2096delC frameshift 19Pathogenic (15)Pathogenic (4)0.000000
383. c.1404del p.Gln469Serfs*19frameshift 1Pathogenic (1)0.000000
384. c.811_817delTTCCGCC frameshift 1Pathogenic (1)0.000000
385. c.1021_1028del p.Gly341*frameshift 1Pathogenic (1)0.000000
386. c.2528_2536delAGATGCGCG p.Glu843_Arg845delinframe 1Pathogenic (1)0.000000
387. c.146_148delTCA p.Ile49delinframe 1VUS (1)0.000039
388. c.3767_3769delCCA p.Thr1256delinframe 3Likely Pathogenic (3)0.000000
389. c.3455_3466del p.Ala1152_Lys1155delinframe 2Likely Pathogenic (2)0.000000
390. c.256_258del p.Ser86delinframe 1VUS (1)0.000000
391. c.3742_3759dup p.Gly1248_Cys1253dupinframe 4Likely Pathogenic (4)0.000000
392. c.3334_3351del p.Trp1112_Glu1117delinframe 1Likely Pathogenic (1)0.000000
393. c.3582_3593delGGGCTACACTGC inframe 2Likely Pathogenic (1)0.000000
394. c.1513_1515delAAG inframe 2VUS favour pathogenic (2)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.