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