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