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