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