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.3613C>T p.R1205Wmissense 10Likely Pathogenic (10)0.000016
19. c.927-2A>G essential splice site 10Pathogenic (8)Pathogenic (2)0.000000
20. c.2604_2605delinsA p.S871fsframeshift 10Pathogenic (8)Pathogenic (2)0.000000
21. c.2309-2A>G essential splice site 9Pathogenic (9)0.000000
22. c.3771C>A p.N1257Kmissense 9Likely Pathogenic (9)0.000000
23. c.3190+2T>G essential splice site 9Pathogenic (7)Pathogenic (2)0.000016
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.2610delC frameshift 5Pathogenic (5)0.000000
34. c.821+1G>A essential splice site 5Pathogenic (1)Pathogenic (4)0.000043
35. c.2374T>C p.W792Rmissense 5Likely Pathogenic (5)0.000000
36. c.3064C>T p.R1022Cmissense 5VUS (1)VUS favour pathogenic (4)0.000008
37. c.2905C>T p.Q969Xnonsense 5Pathogenic (2)Pathogenic (3)0.000000
38. c.1828G>A p.D610Nmissense 5VUS (2)VUS (3)0.000000
39. c.2556_2557delinsTCT p.Gly853fsframeshift 5Pathogenic (4)Pathogenic (1)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.2267delC frameshift 5Pathogenic (5)0.000000
43. c.26-2A>G essential splice site 4Pathogenic (4)0.000051
44. c.3798C>G p.C1266Wmissense 4VUS (4)0.000000
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.3163A>T p.K1055Xnonsense 4Pathogenic (4)0.000000
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.3286G>T p.E1096Xnonsense 4Pathogenic (3)Pathogenic (1)0.000000
51. c.3277G>T p.G1093Cmissense 4VUS (3)VUS (1)0.000020
52. c.1483C>T p.R495Wmissense 4Likely Pathogenic (2)VUS favour pathogenic (2)0.000000
53. c.2210C>T p.T737Mmissense 4VUS (3)VUS (1)0.000050
54. c.3408C>A p.Y1136Xnonsense 4Pathogenic (3)Pathogenic (1)0.000000
55. c.3763G>A p.A1255Tmissense 4VUS (3)VUS favour pathogenic (1)0.000075
56. c.2182G>T p.E728Xnonsense 4Pathogenic (4)0.000000
57. c.484C>T p.Q162Xnonsense 4Pathogenic (4)0.000000
58. c.3181C>T p.Q1061Xnonsense 4Pathogenic (3)Pathogenic (1)0.000016
59. c.833delG p.Gly278GlufsX22frameshift 3Pathogenic (2)Pathogenic (1)0.000000
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.1037G>A p.R346Hmissense 3VUS (1)VUS (2)0.000000
64. c.2311_2312insG p.Val771GlyfsX62frameshift 3Pathogenic (3)0.000000
65. c.3129C>A p.Y1043Xnonsense 3Pathogenic (3)0.000000
66. c.2545del p.Val849Serfs*30frameshift 3Pathogenic (3)0.000000
67. c.2309-1G>A essential splice site 3Pathogenic (3)0.000000
68. c.355G>A p.E119Kmissense 3VUS (3)0.000000
69. c.1790G>A p.R597Qmissense 3VUS (1)VUS favour pathogenic (2)0.000000
70. c.2450G>A p.R817Qmissense 3VUS favour pathogenic (3)0.000016
71. c.3600_3609delCTGCTGTGCT frameshift 3Pathogenic (3)Pathogenic (0)0.000000
72. c.1123G>A p.V375Mmissense 3VUS (3)0.000009
73. c.3190+1G>A essential splice site 3Pathogenic (3)0.000000
74. c.2558delG frameshift 3Pathogenic (1)Pathogenic (2)0.000000
75. c.1720C>T p.R574Wmissense 3VUS (3)0.000054
76. c.3233G>A p.W1078Xnonsense 3Pathogenic (3)0.000022
77. c.3767_3769delCCA p.Thr1256delinframe 3Likely Pathogenic (3)0.000000
78. c.772+1G>A essential splice site 3Pathogenic (1)Pathogenic (2)0.000000
79. c.177_187del p.Glu60AlafsX49frameshift 3Pathogenic (2)Pathogenic (1)0.000000
80. c.532G>A p.V178Mmissense 3VUS (1)VUS favour pathogenic (2)0.000020
81. c.2920C>T p.Q974Xnonsense 3Pathogenic (3)0.000000
82. c.3624delC frameshift 3Pathogenic (1)Pathogenic (2)0.000000
83. c.2320G>A p.A774Tmissense 2VUS (2)0.000000
84. c.1513_1515delAAG inframe 2VUS favour pathogenic (2)0.000000
85. c.1273C>T p.Q425Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
86. c.3253G>T p.E1085Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
87. c.1897+1G>A essential splice site 2Pathogenic (2)0.000000
88. c.1456T>G p.W486Gmissense 2VUS (1)Likely Pathogenic (1)0.000000
89. c.3627+1G>T essential splice site 2Pathogenic (2)0.000000
90. c.636C>G p.S212Rmissense 2VUS favour pathogenic (2)0.000000
91. c.3005G>A p.R1002Qmissense 2VUS (2)0.000046
92. c.1090+1G>T essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
93. c.1351+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
94. c.2219G>C p.G740Amissense 2VUS (2)0.000000
95. c.557C>T p.P186Lmissense 2VUS (2)0.000047
96. c.1021G>A p.G341Smissense 2VUS (1)VUS favour pathogenic (1)0.000025
97. c.818G>A p.R273Hmissense 2VUS (2)0.000042
98. c.126G>A p.W42Xnonsense 2Pathogenic (2)0.000000
99. c.3676C>T p.R1226Cmissense 2VUS (1)VUS (1)0.000058
100. c.1357_1358delCC frameshift 2Pathogenic (2)0.000000
101. c.3751T>C p.Y1251Hmissense 2VUS (2)0.000000
102. c.3811C>T p.R1271Xnonsense 2VUS (1)Pathogenic (1)0.000025
103. c.1863delC p.Phe621LeufsX42frameshift 2Pathogenic (2)0.000000
104. c.3582_3593delGGGCTACACTGC inframe 2Likely Pathogenic (1)0.000000
105. c.2953A>T p.K985Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
106. c.1213A>G p.M405Vmissense 2VUS (1)Pathogenic (1)0.000000
107. c.1886T>C p.L629Pmissense 2VUS (2)0.000000
108. c.443dup p.Ala149Serfs*4frameshift 2Pathogenic (2)0.000000
109. c.747C>A p.C249Xnonsense 2Pathogenic (2)0.000000
110. c.25+1G>A essential splice site 2Pathogenic (2)0.000000
111. c.3373G>A p.V1125Mmissense 2VUS (1)VUS favour pathogenic (1)0.000022
112. c.436_437insA p.Thr146AsnfsX7frameshift 2Pathogenic (2)0.000000
113. c.2534_2538delGCGTC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
114. c.1934C>T p.P645Lmissense 2VUS (2)0.000000
115. c.3192_3193insC p.Lys1065GlnfsX12frameshift 2Pathogenic (2)0.000000
116. c.3470C>T p.P1157Lmissense 2VUS (2)0.000093
117. c.2526C>G p.Y842Xnonsense 2Pathogenic (2)0.000000
118. c.999C>G p.Y333Xnonsense 2Pathogenic (2)0.000000
119. c.3624_3625insC p.Lys1209GlnfsX33frameshift 2Pathogenic (2)0.000000
120. c.1090+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
121. c.2300A>G p.K767Rmissense 2VUS (2)0.000016
122. c.2943_2947delGACCA frameshift 2Pathogenic (2)0.000000
123. c.1766G>A p.R589Hmissense 2VUS (2)0.000000
124. c.373G>T p.A125Smissense 2VUS (1)VUS (1)0.000000
125. c.1999_2000delinsG p.Leu667AspfsX15frameshift 2Pathogenic (1)Pathogenic (1)0.000000
126. c.844C>T p.R282Wmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
127. c.1038_1042dupCGGCA frameshift 2Pathogenic (1)Pathogenic (1)0.000008
128. c.1895delT p.Met632ArgfsX31frameshift 2Pathogenic (2)0.000000
129. c.2432A>G p.K811Rmissense 2VUS (2)0.000000
130. c.459delC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
131. c.2882C>T p.P961Lmissense 2VUS (2)0.000048
132. c.2269G>A p.V757Mmissense 2VUS (1)VUS (1)0.000066
133. c.2197C>T p.R733Cmissense 2Likely Pathogenic (1)VUS (1)0.000085
134. c.1841A>G p.Y614Cmissense 2VUS (1)VUS favour pathogenic (1)0.000000
135. c.2449C>T p.R817Wmissense 2VUS (1)VUS (1)0.000000
136. c.3752A>G p.Y1251Cmissense 2VUS (2)0.000000
137. c.2905+2dup essential splice site 2Likely Pathogenic (2)0.000000
138. c.1210C>T p.Q404Xnonsense 2Pathogenic (2)0.000000
139. c.932C>A p.S311Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
140. c.2524dup p.Tyr842Leufs*42frameshift 2Pathogenic (2)0.000000
141. c.3271del p.Asp1091Metfs*98frameshift 2Pathogenic (2)0.000000
142. c.3455_3466del p.Ala1152_Lys1155delinframe 2Likely Pathogenic (2)0.000000
143. c.1869C>A p.C623Xnonsense 2Pathogenic (2)0.000000
144. c.814C>T p.R272Cmissense 2VUS (2)0.000083
145. c.2905+1G>C essential splice site 1Pathogenic (1)0.000000
146. c.3098G>A p.R1033Qmissense 1VUS (1)0.000000
147. c.2610_2611insC p.Ser871GlnfsX13frameshift 1Pathogenic (1)0.000000
148. c.1800delA frameshift 1Pathogenic (1)0.000000
149. c.3065G>A p.R1022Hmissense 1VUS favour pathogenic (1)0.000000
150. c.3746G>T p.G1249Vmissense 1VUS (1)0.000000
151. c.1418T>C p.F473Smissense 1VUS (1)0.000000
152. c.3068_3069insA p.Asn1023LysfsX28frameshift 1Pathogenic (1)0.000000
153. c.853G>A p.D285Nmissense 1VUS (1)0.000000
154. c.3694A>T p.K1232Xnonsense 1Pathogenic (1)0.000000
155. c.2113_2114insA p.Thr705AsnfsX3frameshift 1Pathogenic (1)0.000000
156. c.3281A>T p.N1094Imissense 1VUS (1)0.000000
157. c.1351+2T>C essential splice site 1Pathogenic (1)0.000000
158. c.3316del p.Asp1106Thrfs*83frameshift 1Pathogenic (1)0.000000
159. c.3490+1G>A essential splice site 1Pathogenic (1)0.000000
160. c.2875_2876delAC p.Thr959GlyfsX91frameshift 1Pathogenic (1)0.000000
161. c.2738-2A>G essential splice site 1Pathogenic (1)0.000000
162. c.3728C>G p.P1243Rmissense 1VUS (1)0.000000
163. c.3690_3691delCA p.Phe1230LeufsX11frameshift 1Pathogenic (1)0.000000
164. c.2437A>T p.K813Xnonsense 1Pathogenic (1)0.000000
165. c.2968C>G p.P990Amissense 1Likely Pathogenic (1)0.000000
166. c.3413G>C p.R1138Pmissense 1VUS (1)0.000000
167. c.2502del p.Arg835Alafs*2frameshift 1Pathogenic (1)0.000000
168. c.1898-1G>A essential splice site 1Pathogenic (1)0.000000
169. c.3476_3477delTT frameshift 1Pathogenic (1)0.000000
170. c.3797G>A p.C1266Ymissense 1Likely Pathogenic (1)0.000000
171. c.2603-2_2603-1delinsGA essential splice site 1Pathogenic (1)0.000000
172. c.2304_2308+2delCATCGGT essential splice site 1Pathogenic (1)0.000000
173. c.2780_2781delCA frameshift 1Pathogenic (1)0.000000
174. c.993_994insT p.E332Xnonsense 1Pathogenic (1)0.000000
175. c.2161_2168del p.Thr721Profs*23frameshift 1Pathogenic (1)0.000000
176. c.2789del p.Leu930Argfs*2frameshift 1Pathogenic (1)0.000000
177. c.1471G>A p.V491Mmissense 1VUS (1)0.000058
178. c.1756C>G p.P586Amissense 1Likely Pathogenic (1)0.000000
179. c.1153G>A p.V385Mmissense 1VUS (1)0.000010
180. c.481C>A p.P161Tmissense 1VUS favour pathogenic (1)0.000041
181. c.1224-1G>T essential splice site 1Pathogenic (1)0.000000
182. c.2234A>G p.D745Gmissense 1VUS (1)0.000000
183. c.1685C>T p.A562Vmissense 1VUS (1)0.000008
184. c.1405C>T p.Q469Xnonsense 1Pathogenic (1)0.000000
185. c.3580G>A p.A1194Tmissense 1VUS (1)0.000008
186. c.3335G>A p.W1112Xnonsense 1Pathogenic (1)0.000000
187. c.1080G>C p.K360Nmissense 1VUS (1)0.000000
188. c.701C>A p.T234Nmissense 1Likely Pathogenic (1)0.000000
189. c.1097A>C p.Q366Pmissense 1VUS (1)0.000000
190. c.148A>G p.S50Gmissense 1VUS (1)0.000038
191. c.365C>A p.A122Dmissense 1VUS (1)0.000000
192. c.1540A>G p.I514Vmissense 1VUS (1)0.000008
193. c.2938C>T p.R980Cmissense 1VUS (1)0.000062
194. c.2170C>T p.R724Wmissense 1VUS (1)0.000019
195. c.2533C>T p.R845Cmissense 1VUS favour pathogenic (1)0.000000
196. c.1358C>T p.P453Lmissense 1VUS (1)0.000008
197. c.3049G>A p.E1017Kmissense 1VUS favour benign (1)0.000085
198. c.2163delC p.Glu722ArgfsX32frameshift 1Pathogenic (1)0.000000
199. c.211_212delinsTA p.Val71*frameshift 1Pathogenic (1)0.000000
200. c.431_432delGT p.Gly144AlafsX8frameshift 1Pathogenic (1)0.000000
201. c.1294G>A p.A432Tmissense 1VUS (1)0.000037
202. c.2525A>G p.Y842Cmissense 1VUS (1)0.000000
203. c.2013_2016delinsGG p.Pro672AspfsX20frameshift 1Pathogenic (1)0.000000
204. c.3G>C p.Met1?missense 1Likely Pathogenic (1)0.000000
205. c.2557G>A p.G853Smissense 1VUS (1)0.000008
206. c.566T>A p.V189Dmissense 1VUS (1)0.000000
207. c.3040delC p.Leu1014TrpfsX6frameshift 1Pathogenic (1)0.000000
208. c.3334_3351del p.Trp1112_Glu1117delinframe 1Likely Pathogenic (1)0.000000
209. c.655-1G>A essential splice site 1Pathogenic (1)0.000000
210. c.2436G>T p.K812Nmissense 1VUS (1)0.000000
211. c.2737+2T>A essential splice site 1Pathogenic (1)0.000000
212. c.2993A>G p.Q998Rmissense 1VUS favour pathogenic (1)0.000000
213. c.3605G>A p.C1202Ymissense 1Likely Pathogenic (1)0.000000
214. c.2671C>T p.R891Wmissense 1Likely Pathogenic (1)0.000031
215. c.2708G>A p.G903Dmissense 1Likely Pathogenic (1)0.000000
216. c.2503C>T p.R835Cmissense 1VUS (1)0.000024
217. c.613C>T p.Q205Xnonsense 1Pathogenic (1)0.000000
218. c.3776delA frameshift 1Pathogenic (1)0.000000
219. c.2834G>A p.R945Qmissense 1VUS (1)0.000000
220. c.3332_3335dupAGTG p.W1112Xnonsense 1Pathogenic (1)0.000000
221. c.2512dup p.Glu838Glyfs*46frameshift 1Pathogenic (1)0.000000
222. c.3256T>C p.W1086Rmissense 1VUS (1)0.000000
223. c.2198G>A p.R733Hmissense 1VUS (1)0.000034
224. c.3316G>A p.D1106Nmissense 1VUS (1)0.000061
225. c.3753T>G p.Y1251Xnonsense 1Pathogenic (1)0.000000
226. c.1457G>A p.W486Xnonsense 1Pathogenic (1)0.000000
227. c.994G>A p.E332Kmissense 1VUS (1)0.000009
228. c.2641G>A p.V881Imissense 1VUS (1)0.000018
229. c.2265C>A p.N755Kmissense 1Pathogenic (1)0.000000
230. c.1535T>A p.L512Qmissense 1VUS favour pathogenic (1)0.000000
231. c.1303C>T p.Q435Xnonsense 1Pathogenic (1)0.000000
232. c.1892delT frameshift 1Pathogenic (1)0.000000
233. c.1266_1267insTGAT p.Ile423*frameshift 1Pathogenic (1)0.000000
234. c.1174G>T p.A392Smissense 1VUS (1)0.000000
235. c.187C>T p.R63Wmissense 1VUS (1)0.000077
236. c.3742G>A p.G1248Rmissense 1VUS (1)0.000033
237. c.1359del p.Val454Cysfs*12frameshift 1Pathogenic (1)0.000000
238. c.743_746delACTG frameshift 1Pathogenic (1)0.000000
239. c.2654C>T p.T885Mmissense 1VUS (1)0.000022
240. c.255del p.Ser86Profs*10frameshift 1Pathogenic (1)0.000000
241. c.1586C>G p.T529Smissense 1VUS favour pathogenic (1)0.000000
242. c.553_562del p.Lys185Trpfs*12frameshift 1Pathogenic (1)0.000000
243. c.103C>T p.R35Wmissense 1VUS (1)0.000056
244. c.3791G>A p.C1264Ymissense 1VUS (1)0.000008
245. c.966G>A p.W322Xnonsense 1Pathogenic (1)0.000000
246. c.2737+1G>C essential splice site 1Pathogenic (1)0.000000
247. c.2048G>A p.W683Xnonsense 1Pathogenic (1)0.000000
248. c.3548T>G p.F1183Cmissense 1Likely Pathogenic (1)0.000000
249. c.3288delG frameshift 1Pathogenic (1)0.000000
250. c.1678delG p.Asp560ThrfsX19frameshift 1Pathogenic (1)0.000000
251. c.3364A>T p.T1122Smissense 1Likely Pathogenic (1)0.000000
252. c.3792_3793del p.Cys1264*frameshift 1Likely Pathogenic (1)0.000000
253. c.2517_2538del p.Val840ThrfsX32frameshift 1Pathogenic (1)0.000000
254. c.2149-1G>A essential splice site 1Pathogenic (1)0.000000
255. c.821+1G>C essential splice site 1Pathogenic (1)0.000000
256. c.2953A>G p.K985Emissense 1Pathogenic (1)0.000000
257. c.2995-1G>A essential splice site 1Pathogenic (1)0.000000
258. c.1156G>T p.E386Xnonsense 1Pathogenic (1)0.000000
259. c.333_334insT p.E112Xnonsense 1Pathogenic (1)0.000000
260. c.3297dup p.Tyr1100Valfs*49frameshift 1Pathogenic (1)0.000000
261. c.2906-2A>G essential splice site 1Pathogenic (1)0.000000
262. c.2149_2737del p.Leu717Alafs*11frameshift 1Pathogenic (1)0.000000
263. c.3614G>C p.R1205Pmissense 1Likely Pathogenic (1)0.000000
264. c.3617delG frameshift 1Pathogenic (1)0.000000
265. c.533delT p.Val178GlyfsX7frameshift 1Pathogenic (1)0.000000
266. c.2524_2525insT p.Tyr842LeufsX42frameshift 1Pathogenic (1)0.000000
267. c.2054_2067+11del p.Lys685Argfs*3frameshift 1Pathogenic (1)0.000000
268. c.2748G>A p.W916Xnonsense 1Pathogenic (1)0.000000
269. c.1433C>T p.S478Lmissense 1Likely Pathogenic (1)0.000017
270. c.1628delA frameshift 1Pathogenic (1)0.000000
271. c.2381C>A p.P794Qmissense 1VUS (1)0.000000
272. c.1523_1525delinsT p.Gln508Leufs*22frameshift 1Pathogenic (1)0.000000
273. c.2603-1G>C essential splice site 1Pathogenic (1)0.000000
274. c.1072G>A p.D358Nmissense 1VUS (1)0.000008
275. c.811_817delTTCCGCC frameshift 1Pathogenic (1)0.000000
276. c.1021_1028del p.Gly341*frameshift 1Pathogenic (1)0.000000
277. c.1731G>C p.W577Cmissense 1VUS (1)0.000000
278. c.1223+2T>C essential splice site 1Pathogenic (1)0.000000
279. c.506-1G>A essential splice site 1Pathogenic (1)0.000000
280. c.1778C>T p.S593Fmissense 1VUS favour pathogenic (1)0.000034
281. c.1404del p.Gln469Serfs*19frameshift 1Pathogenic (1)0.000000
282. c.1672G>A p.A558Tmissense 1VUS (1)0.000008
283. c.2312T>C p.V771Amissense 1VUS (1)0.000000
284. c.655-2del essential splice site 1Pathogenic (1)0.000000
285. c.121dup p.Arg41Profs*8frameshift 1Pathogenic (1)0.000000
286. c.1090+2T>C essential splice site 1Pathogenic (1)0.000000
287. c.2518G>A p.V840Mmissense 1VUS (1)0.000016
288. c.49C>T p.R17Wmissense 1VUS (1)0.000023
289. c.351_352del p.Gly118Argfs*8frameshift 1Pathogenic (1)0.000000
290. c.2528_2536delAGATGCGCG p.Glu843_Arg845delinframe 1Pathogenic (1)0.000000
291. c.3415G>A p.V1139Imissense 1VUS (1)0.000087
292. c.290C>T p.A97Vmissense 1VUS favour pathogenic (1)0.000000
293. c.3083C>G p.T1028Smissense 1VUS (1)0.000000
294. c.1699_1700delGA p.Glu567GlyfsX4frameshift 1Pathogenic (1)0.000000
295. c.*26+2T>C essential splice site 1Likely Pathogenic (1)0.000000
296. c.436A>C p.T146Pmissense 1VUS (1)0.000000
297. c.506-1G>T essential splice site 1Pathogenic (1)0.000000
298. c.1693A>T p.K565Xnonsense 1Pathogenic (1)0.000000
299. c.326C>T p.A109Vmissense 1VUS (1)0.000000
300. c.2040_2041insT p.Val681CysfsX12frameshift 1Pathogenic (1)0.000000
301. c.1000G>T p.E334Xnonsense 1Pathogenic (1)0.000000
302. c.2723A>G p.Y908Cmissense 1VUS (1)0.000062
303. c.1188G>T p.W396Cmissense 1VUS (1)0.000000
304. c.3572C>T p.S1191Lmissense 1VUS (1)0.000016
305. c.1575T>G p.Y525Xnonsense 1Pathogenic (1)0.000000
306. c.2747G>A p.W916Xnonsense 1Pathogenic (1)0.000000
307. c.3739G>A p.D1247Nmissense 1VUS (1)0.000000
308. c.3656T>C p.L1219Pmissense 1VUS (1)0.000000
309. c.2394_2395insT p.Gly799TrpfsX34frameshift 1Pathogenic (1)0.000000
310. c.3043dup p.Ala1015Glyfs*36frameshift 1Pathogenic (1)0.000000
311. c.3019T>C p.W1007Rmissense 1VUS (1)0.000000
312. c.931T>A p.S311Tmissense 1VUS (1)0.000000
313. c.3166_3167insG p.Ala1056GlyfsX9frameshift 1Pathogenic (1)0.000000
314. c.1591G>C p.G531Rmissense 1VUS favour pathogenic (1)0.000017
315. c.3330+1G>C essential splice site 1Pathogenic (1)0.000000
316. c.3206C>A p.P1069Hmissense 1Likely Pathogenic (1)0.000000
317. c.2030C>T p.P677Lmissense 1VUS (1)0.000000
318. c.3257G>A p.W1086Xnonsense 1Pathogenic (1)0.000021
319. c.3735delC frameshift 1Likely Pathogenic (1)0.000000
320. c.2965G>T p.E989Xnonsense 1Pathogenic (1)0.000000
321. c.2690_2696del p.Gly897Glufs*25frameshift 1Pathogenic (1)0.000000
322. c.2188del p.Thr730Profs*24frameshift 1Pathogenic (1)0.000000
323. c.2807dup p.Ala938Glyfs*113frameshift 1Pathogenic (1)0.000000
324. c.1624+1G>A essential splice site 1Pathogenic (1)0.000000
325. c.2909G>A p.R970Qmissense 1Likely Pathogenic (1)0.000032
326. c.1224-2A>G essential splice site 1Pathogenic (1)0.000000
327. c.3476_3479dupTTAT p.Pro1161TyrfsX9frameshift 1Pathogenic (1)0.000000
328. c.2429_2503delins23 p.Arg810Profs*10frameshift 1Pathogenic (1)0.000000
329. c.1231A>G p.I411Vmissense 1VUS (1)0.000000
330. c.2247C>A p.Y749Xnonsense 1Pathogenic (1)0.000000
331. c.631G>A p.D211Nmissense 1VUS (1)0.000009
332. c.1455A>T p.K485Nmissense 1VUS (1)0.000000
333. c.982delG frameshift 1Pathogenic (1)0.000000
334. c.1797del p.His599Glnfs*3frameshift 1Pathogenic (1)0.000000
335. c.1291G>A p.D431Nmissense 1VUS (1)0.000028
336. c.1960C>T p.R654Cmissense 1VUS favour benign (1)0.000008
337. c.177dup p.Glu60Argfs*53frameshift 1Pathogenic (1)0.000000
338. c.1120C>T p.Q374Xnonsense 1Pathogenic (1)0.000000
339. c.146_148delTCA p.Ile49delinframe 1VUS (1)0.000039
340. c.932C>T p.S311Lmissense 1VUS (1)0.000000
341. c.391dup p.Ala131Glyfs*22frameshift 1Pathogenic (1)0.000000
342. c.1352_1353del p.Glu451Alafs*23frameshift 1Pathogenic (1)0.000000
343. c.1397T>A p.M466Kmissense 1VUS (1)0.000008
344. c.711C>A p.Y237Xnonsense 1Pathogenic (1)0.000000
345. c.731del p.Lys244Argfs*56frameshift 1Pathogenic (1)0.000000
346. c.1A>T p.Met1?missense 1Likely Pathogenic (1)0.000000
347. c.2308+1G>T essential splice site 1Pathogenic (1)0.000000
348. c.2828G>A p.R943Qmissense 1VUS (1)0.000025
349. c.241G>T p.V81Fmissense 1VUS (1)0.000000
350. c.3825A>G p.X1275TrpextX77nonsense 1Likely Pathogenic (1)0.000000
351. c.1168delC frameshift 1Pathogenic (1)0.000000
352. c.451G>A p.D151Nmissense 1VUS (1)0.000041
353. c.2939G>A p.R980Hmissense 1VUS (1)0.000000
354. c.3815-1G>A essential splice site 1Pathogenic (1)0.000000
355. c.1624+2T>C essential splice site 1Pathogenic (1)0.000000
356. c.104G>A p.R35Qmissense 1VUS (1)0.000079
357. c.2833_2834delCG frameshift 1Pathogenic (1)0.000000
358. c.518C>A p.T173Nmissense 1VUS (1)0.000000
359. c.3357C>A p.Y1119Xnonsense 1Pathogenic (1)0.000000
360. c.3605delG frameshift 1Pathogenic (1)0.000000
361. c.1950C>G p.D650Emissense 1VUS (1)0.000000
362. c.1458-1G>A essential splice site 1Pathogenic (1)0.000000
363. c.3713T>C p.L1238Pmissense 1Likely Pathogenic (1)0.000000
364. c.1924C>T p.Q642Xnonsense 1Pathogenic (1)0.000000
365. c.3614G>A p.R1205Qmissense 1VUS (1)0.000016
366. c.551_552insT p.Lys185GlufsX56frameshift 1Pathogenic (1)0.000000
367. c.2541C>A p.Y847Xnonsense 1Pathogenic (1)0.000000
368. c.3331-1G>A essential splice site 1Pathogenic (1)0.000000
369. c.2249C>T p.T750Mmissense 1Likely Pathogenic (1)0.000024
370. c.3452C>T p.A1151Vmissense 1VUS (1)0.000078
371. c.1343T>C p.F448Smissense 1Likely Pathogenic (1)0.000000
372. c.2718_2719dup p.Glu907Glyfs*18frameshift 1Pathogenic (1)0.000000
373. c.2504G>T p.R835Lmissense 1Likely Pathogenic (1)0.000074
374. c.2584C>T p.Q862Xnonsense 1Pathogenic (1)0.000000
375. c.1021G>C p.G341Rmissense 1VUS (1)0.000000
376. c.1505G>T p.R502Lmissense 1VUS favour pathogenic (1)0.000000
377. c.2065C>T p.Q689Xnonsense 1Pathogenic (1)0.000000
378. c.1377delC frameshift 1Pathogenic (1)0.000000
379. c.2371C>T p.Q791Xnonsense 1Pathogenic (1)0.000000
380. c.1789C>T p.R597Wmissense 1VUS (1)0.000038
381. c.1458G>A p.W486Xnonsense 1Pathogenic (1)0.000000
382. c.223G>A p.D75Nmissense 1VUS favour pathogenic (1)0.000091
383. c.1376_1377del p.Pro459Leufs*15frameshift 1Pathogenic (1)0.000000
384. c.799C>G p.L267Vmissense 1VUS (1)0.000080
385. c.821+2T>G essential splice site 1Pathogenic (1)0.000000
386. c.1569dup p.His524Alafs*7frameshift 1Pathogenic (1)0.000000
387. c.1112C>T p.P371Lmissense 1VUS (1)0.000028
388. c.1201C>T p.Q401Xnonsense 1Pathogenic (1)0.000000
389. c.188G>A p.R63Qmissense 1VUS (1)0.000039
390. c.2560A>G p.M854Vmissense 1VUS (1)0.000000
391. c.256_258del p.Ser86delinframe 1VUS (1)0.000000
392. c.611_618delinsT p.Gly204Valfs*94frameshift 1Pathogenic (1)0.000000
393. c.713G>A p.R238Hmissense 1VUS (1)0.000074
394. c.100_110dup p.Val38Serfs*5frameshift 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.