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

References

1. Roddy Walsh, Kate L. Thomson, James S. Ware, Birgit H. Funke, Jessica Woodley, Karen J. McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C. Taylor, Eric V. Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook and Hugh Watkins. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2016 doi:10.1038/gim.2016.90.

2. Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Nov;17(11):880-8.