MYBPC3 variants in HCM cohorts

MYBPC3 gene summary
Overview of MYBPC3 in HCM

The table below lists the 1176 rare (MAF<0.0001 in ExAC) protein-altering MYBPC3 variants identified in a cohort of 6179 HCM patients (3267 patients from OMGL, 2912 patients from LMM). When this rare variant frequency of 0.19032 is compared with a background population rate of 0.01970, there is a statistically significant case excess of 0.17062 (p<0.0001), which suggests that approximately 1,058 of these variants may be pathogenic.


Variant Type:      All protein-altering variants     -     Truncating variants     -     Non-Truncating variants
Source:      Combined (OMGL + LMM)     -     OMGL     -     LMM



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