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

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.