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