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