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.1483C>G p.R495Gmissense 14Likely Pathogenic (10)Likely Pathogenic (4)0.000000
12. c.1484G>A p.R495Qmissense 14Likely Pathogenic (4)VUS favour pathogenic (10)0.000008
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.927-2A>G essential splice site 10Pathogenic (8)Pathogenic (2)0.000000
19. c.3613C>T p.R1205Wmissense 10Likely Pathogenic (10)0.000016
20. c.2604_2605delinsA p.S871fsframeshift 10Pathogenic (8)Pathogenic (2)0.000000
21. c.3771C>A p.N1257Kmissense 9Likely Pathogenic (9)0.000000
22. c.3190+2T>G essential splice site 9Pathogenic (7)Pathogenic (2)0.000016
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.2490_2491insT p.His831SerfsTer2frameshift 8Pathogenic (7)Pathogenic (1)0.000024
26. c.1505G>A p.R502Qmissense 8Pathogenic (2)Pathogenic (6)0.000000
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.2573G>A p.S858Nmissense 6Likely Pathogenic (2)VUS favour pathogenic (4)0.000000
30. c.3065G>C p.R1022Pmissense 6Likely Pathogenic (5)VUS favour pathogenic (1)0.000025
31. c.2459G>A p.R820Qmissense 6VUS (5)Likely Pathogenic (1)0.000016
32. c.710A>C p.Y237Smissense 6Likely Pathogenic (3)Likely Pathogenic (3)0.000000
33. c.2556_2557delinsTCT p.Gly853fsframeshift 5Pathogenic (4)Pathogenic (1)0.000000
34. c.2905C>T p.Q969Xnonsense 5Pathogenic (2)Pathogenic (3)0.000000
35. c.821+2T>C essential splice site 5Pathogenic (4)Pathogenic (1)0.000000
36. c.2374T>C p.W792Rmissense 5Likely Pathogenic (5)0.000000
37. c.3064C>T p.R1022Cmissense 5VUS (1)VUS favour pathogenic (4)0.000008
38. c.1828G>A p.D610Nmissense 5VUS (2)VUS (3)0.000000
39. c.2267delC frameshift 5Pathogenic (5)0.000000
40. c.821+1G>A essential splice site 5Pathogenic (1)Pathogenic (4)0.000043
41. c.2610delC frameshift 5Pathogenic (5)0.000000
42. c.913_914delTT frameshift 5Pathogenic (5)0.000000
43. c.2454G>A p.W818Xnonsense 4Pathogenic (4)0.000000
44. c.484C>T p.Q162Xnonsense 4Pathogenic (4)0.000000
45. c.1591G>A p.G531Rmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000017
46. c.3798C>G p.C1266Wmissense 4VUS (4)0.000000
47. c.2873C>T p.T958Imissense 4VUS (1)VUS favour benign (3)0.000065
48. c.2182G>T p.E728Xnonsense 4Pathogenic (4)0.000000
49. c.3277G>T p.G1093Cmissense 4VUS (3)VUS (1)0.000020
50. c.26-2A>G essential splice site 4Pathogenic (4)0.000051
51. c.2210C>T p.T737Mmissense 4VUS (3)VUS (1)0.000050
52. c.1483C>T p.R495Wmissense 4Likely Pathogenic (2)VUS favour pathogenic (2)0.000000
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.3742_3759dup p.Gly1248_Cys1253dupinframe 4Likely Pathogenic (4)0.000000
56. c.3286G>T p.E1096Xnonsense 4Pathogenic (3)Pathogenic (1)0.000000
57. c.3181C>T p.Q1061Xnonsense 4Pathogenic (3)Pathogenic (1)0.000016
58. c.3163A>T p.K1055Xnonsense 4Pathogenic (4)0.000000
59. c.833delG p.Gly278GlufsX22frameshift 3Pathogenic (2)Pathogenic (1)0.000000
60. c.532G>A p.V178Mmissense 3VUS (1)VUS favour pathogenic (2)0.000020
61. c.355G>A p.E119Kmissense 3VUS (3)0.000000
62. c.2558delG frameshift 3Pathogenic (1)Pathogenic (2)0.000000
63. c.3190+1G>A essential splice site 3Pathogenic (3)0.000000
64. c.1123G>A p.V375Mmissense 3VUS (3)0.000009
65. c.1037G>A p.R346Hmissense 3VUS (1)VUS (2)0.000000
66. c.1828G>C p.D610Hmissense 3VUS (1)VUS favour benign (2)0.000058
67. c.772+1G>A essential splice site 3Pathogenic (1)Pathogenic (2)0.000000
68. c.3129C>A p.Y1043Xnonsense 3Pathogenic (3)0.000000
69. c.177_187del p.Glu60AlafsX49frameshift 3Pathogenic (2)Pathogenic (1)0.000000
70. c.1720C>T p.R574Wmissense 3VUS (3)0.000054
71. c.2309-1G>A essential splice site 3Pathogenic (3)0.000000
72. c.2545del p.Val849Serfs*30frameshift 3Pathogenic (3)0.000000
73. c.2920C>T p.Q974Xnonsense 3Pathogenic (3)0.000000
74. c.3233G>A p.W1078Xnonsense 3Pathogenic (3)0.000022
75. c.2450G>A p.R817Qmissense 3VUS favour pathogenic (3)0.000016
76. c.3600_3609delCTGCTGTGCT frameshift 3Pathogenic (3)Pathogenic (0)0.000000
77. c.1790G>A p.R597Qmissense 3VUS (1)VUS favour pathogenic (2)0.000000
78. c.3491-2A>T essential splice site 3Pathogenic (3)0.000000
79. c.2308+1G>A essential splice site 3Pathogenic (2)Pathogenic (1)0.000000
80. c.2311_2312insG p.Val771GlyfsX62frameshift 3Pathogenic (3)0.000000
81. c.3767_3769delCCA p.Thr1256delinframe 3Likely Pathogenic (3)0.000000
82. c.3624delC frameshift 3Pathogenic (1)Pathogenic (2)0.000000
83. c.3192_3193insC p.Lys1065GlnfsX12frameshift 2Pathogenic (2)0.000000
84. c.2905+2dup essential splice site 2Likely Pathogenic (2)0.000000
85. c.2524dup p.Tyr842Leufs*42frameshift 2Pathogenic (2)0.000000
86. c.3271del p.Asp1091Metfs*98frameshift 2Pathogenic (2)0.000000
87. c.3752A>G p.Y1251Cmissense 2VUS (2)0.000000
88. c.1213A>G p.M405Vmissense 2VUS (1)Pathogenic (1)0.000000
89. c.3624_3625insC p.Lys1209GlnfsX33frameshift 2Pathogenic (2)0.000000
90. c.844C>T p.R282Wmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
91. c.3455_3466del p.Ala1152_Lys1155delinframe 2Likely Pathogenic (2)0.000000
92. c.999C>G p.Y333Xnonsense 2Pathogenic (2)0.000000
93. c.2320G>A p.A774Tmissense 2VUS (2)0.000000
94. c.1021G>A p.G341Smissense 2VUS (1)VUS favour pathogenic (1)0.000025
95. c.814C>T p.R272Cmissense 2VUS (2)0.000083
96. c.3470C>T p.P1157Lmissense 2VUS (2)0.000093
97. c.2526C>G p.Y842Xnonsense 2Pathogenic (2)0.000000
98. c.1038_1042dupCGGCA frameshift 2Pathogenic (1)Pathogenic (1)0.000008
99. c.1999_2000delinsG p.Leu667AspfsX15frameshift 2Pathogenic (1)Pathogenic (1)0.000000
100. c.2300A>G p.K767Rmissense 2VUS (2)0.000016
101. c.1895delT p.Met632ArgfsX31frameshift 2Pathogenic (2)0.000000
102. c.1357_1358delCC frameshift 2Pathogenic (2)0.000000
103. c.1456T>G p.W486Gmissense 2VUS (1)Likely Pathogenic (1)0.000000
104. c.636C>G p.S212Rmissense 2VUS favour pathogenic (2)0.000000
105. c.2219G>C p.G740Amissense 2VUS (2)0.000000
106. c.3676C>T p.R1226Cmissense 2VUS (1)VUS (1)0.000058
107. c.2943_2947delGACCA frameshift 2Pathogenic (2)0.000000
108. c.126G>A p.W42Xnonsense 2Pathogenic (2)0.000000
109. c.2432A>G p.K811Rmissense 2VUS (2)0.000000
110. c.3751T>C p.Y1251Hmissense 2VUS (2)0.000000
111. c.1886T>C p.L629Pmissense 2VUS (2)0.000000
112. c.3811C>T p.R1271Xnonsense 2VUS (1)Pathogenic (1)0.000025
113. c.436_437insA p.Thr146AsnfsX7frameshift 2Pathogenic (2)0.000000
114. c.443dup p.Ala149Serfs*4frameshift 2Pathogenic (2)0.000000
115. c.1273C>T p.Q425Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
116. c.747C>A p.C249Xnonsense 2Pathogenic (2)0.000000
117. c.1934C>T p.P645Lmissense 2VUS (2)0.000000
118. c.25+1G>A essential splice site 2Pathogenic (2)0.000000
119. c.2449C>T p.R817Wmissense 2VUS (1)VUS (1)0.000000
120. c.1210C>T p.Q404Xnonsense 2Pathogenic (2)0.000000
121. c.3253G>T p.E1085Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
122. c.1897+1G>A essential splice site 2Pathogenic (2)0.000000
123. c.1869C>A p.C623Xnonsense 2Pathogenic (2)0.000000
124. c.373G>T p.A125Smissense 2VUS (1)VUS (1)0.000000
125. c.932C>A p.S311Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
126. c.1090+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
127. c.459delC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
128. c.1766G>A p.R589Hmissense 2VUS (2)0.000000
129. c.3627+1G>T essential splice site 2Pathogenic (2)0.000000
130. c.3005G>A p.R1002Qmissense 2VUS (2)0.000046
131. c.1863delC p.Phe621LeufsX42frameshift 2Pathogenic (2)0.000000
132. c.2269G>A p.V757Mmissense 2VUS (1)VUS (1)0.000066
133. c.818G>A p.R273Hmissense 2VUS (2)0.000042
134. c.1090+1G>T essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
135. c.557C>T p.P186Lmissense 2VUS (2)0.000047
136. c.1351+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
137. c.1513_1515delAAG inframe 2VUS favour pathogenic (2)0.000000
138. c.1841A>G p.Y614Cmissense 2VUS (1)VUS favour pathogenic (1)0.000000
139. c.2953A>T p.K985Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
140. c.2882C>T p.P961Lmissense 2VUS (2)0.000048
141. c.3582_3593delGGGCTACACTGC inframe 2Likely Pathogenic (1)0.000000
142. c.3373G>A p.V1125Mmissense 2VUS (1)VUS favour pathogenic (1)0.000022
143. c.2197C>T p.R733Cmissense 2Likely Pathogenic (1)VUS (1)0.000085
144. c.2534_2538delGCGTC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
145. c.1800delA frameshift 1Pathogenic (1)0.000000
146. c.1303C>T p.Q435Xnonsense 1Pathogenic (1)0.000000
147. c.2149-1G>A essential splice site 1Pathogenic (1)0.000000
148. c.1678delG p.Asp560ThrfsX19frameshift 1Pathogenic (1)0.000000
149. c.994G>A p.E332Kmissense 1VUS (1)0.000009
150. c.2265C>A p.N755Kmissense 1Pathogenic (1)0.000000
151. c.2718_2719dup p.Glu907Glyfs*18frameshift 1Pathogenic (1)0.000000
152. c.743_746delACTG frameshift 1Pathogenic (1)0.000000
153. c.1458G>A p.W486Xnonsense 1Pathogenic (1)0.000000
154. c.2584C>T p.Q862Xnonsense 1Pathogenic (1)0.000000
155. c.2906-2A>G essential splice site 1Pathogenic (1)0.000000
156. c.2560A>G p.M854Vmissense 1VUS (1)0.000000
157. c.2065C>T p.Q689Xnonsense 1Pathogenic (1)0.000000
158. c.533delT p.Val178GlyfsX7frameshift 1Pathogenic (1)0.000000
159. c.2524_2525insT p.Tyr842LeufsX42frameshift 1Pathogenic (1)0.000000
160. c.187C>T p.R63Wmissense 1VUS (1)0.000077
161. c.2371C>T p.Q791Xnonsense 1Pathogenic (1)0.000000
162. c.333_334insT p.E112Xnonsense 1Pathogenic (1)0.000000
163. c.713G>A p.R238Hmissense 1VUS (1)0.000074
164. c.3746G>T p.G1249Vmissense 1VUS (1)0.000000
165. c.1376_1377del p.Pro459Leufs*15frameshift 1Pathogenic (1)0.000000
166. c.3065G>A p.R1022Hmissense 1VUS favour pathogenic (1)0.000000
167. c.3098G>A p.R1033Qmissense 1VUS (1)0.000000
168. c.821+2T>G essential splice site 1Pathogenic (1)0.000000
169. c.1343T>C p.F448Smissense 1Likely Pathogenic (1)0.000000
170. c.1569dup p.His524Alafs*7frameshift 1Pathogenic (1)0.000000
171. c.1892delT frameshift 1Pathogenic (1)0.000000
172. c.1201C>T p.Q401Xnonsense 1Pathogenic (1)0.000000
173. c.2610_2611insC p.Ser871GlnfsX13frameshift 1Pathogenic (1)0.000000
174. c.3694A>T p.K1232Xnonsense 1Pathogenic (1)0.000000
175. c.256_258del p.Ser86delinframe 1VUS (1)0.000000
176. c.3476_3477delTT frameshift 1Pathogenic (1)0.000000
177. c.611_618delinsT p.Gly204Valfs*94frameshift 1Pathogenic (1)0.000000
178. c.1418T>C p.F473Smissense 1VUS (1)0.000000
179. c.100_110dup p.Val38Serfs*5frameshift 1Pathogenic (1)0.000000
180. c.481C>A p.P161Tmissense 1VUS favour pathogenic (1)0.000041
181. c.3617delG frameshift 1Pathogenic (1)0.000000
182. c.2995-1G>A essential splice site 1Pathogenic (1)0.000000
183. c.3316del p.Asp1106Thrfs*83frameshift 1Pathogenic (1)0.000000
184. c.1000G>T p.E334Xnonsense 1Pathogenic (1)0.000000
185. c.1072G>A p.D358Nmissense 1VUS (1)0.000008
186. c.2738-2A>G essential splice site 1Pathogenic (1)0.000000
187. c.1699_1700delGA p.Glu567GlyfsX4frameshift 1Pathogenic (1)0.000000
188. c.1433C>T p.S478Lmissense 1Likely Pathogenic (1)0.000017
189. c.2968C>G p.P990Amissense 1Likely Pathogenic (1)0.000000
190. c.2789del p.Leu930Argfs*2frameshift 1Pathogenic (1)0.000000
191. c.1156G>T p.E386Xnonsense 1Pathogenic (1)0.000000
192. c.2394_2395insT p.Gly799TrpfsX34frameshift 1Pathogenic (1)0.000000
193. c.1540A>G p.I514Vmissense 1VUS (1)0.000008
194. c.506-1G>A essential splice site 1Pathogenic (1)0.000000
195. c.2502del p.Arg835Alafs*2frameshift 1Pathogenic (1)0.000000
196. c.3166_3167insG p.Ala1056GlyfsX9frameshift 1Pathogenic (1)0.000000
197. c.811_817delTTCCGCC frameshift 1Pathogenic (1)0.000000
198. c.2603-2_2603-1delinsGA essential splice site 1Pathogenic (1)0.000000
199. c.2747G>A p.W916Xnonsense 1Pathogenic (1)0.000000
200. c.2161_2168del p.Thr721Profs*23frameshift 1Pathogenic (1)0.000000
201. c.3728C>G p.P1243Rmissense 1VUS (1)0.000000
202. c.1080G>C p.K360Nmissense 1VUS (1)0.000000
203. c.1756C>G p.P586Amissense 1Likely Pathogenic (1)0.000000
204. c.1628delA frameshift 1Pathogenic (1)0.000000
205. c.2938C>T p.R980Cmissense 1VUS (1)0.000062
206. c.2170C>T p.R724Wmissense 1VUS (1)0.000019
207. c.49C>T p.R17Wmissense 1VUS (1)0.000023
208. c.1224-1G>T essential splice site 1Pathogenic (1)0.000000
209. c.2163delC p.Glu722ArgfsX32frameshift 1Pathogenic (1)0.000000
210. c.3476_3479dupTTAT p.Pro1161TyrfsX9frameshift 1Pathogenic (1)0.000000
211. c.1358C>T p.P453Lmissense 1VUS (1)0.000008
212. c.1405C>T p.Q469Xnonsense 1Pathogenic (1)0.000000
213. c.3288delG frameshift 1Pathogenic (1)0.000000
214. c.1168delC frameshift 1Pathogenic (1)0.000000
215. c.2533C>T p.R845Cmissense 1VUS favour pathogenic (1)0.000000
216. c.2965G>T p.E989Xnonsense 1Pathogenic (1)0.000000
217. c.3049G>A p.E1017Kmissense 1VUS favour benign (1)0.000085
218. c.2013_2016delinsGG p.Pro672AspfsX20frameshift 1Pathogenic (1)0.000000
219. c.701C>A p.T234Nmissense 1Likely Pathogenic (1)0.000000
220. c.3797G>A p.C1266Ymissense 1Likely Pathogenic (1)0.000000
221. c.1294G>A p.A432Tmissense 1VUS (1)0.000037
222. c.1097A>C p.Q366Pmissense 1VUS (1)0.000000
223. c.431_432delGT p.Gly144AlafsX8frameshift 1Pathogenic (1)0.000000
224. c.2557G>A p.G853Smissense 1VUS (1)0.000008
225. c.365C>A p.A122Dmissense 1VUS (1)0.000000
226. c.211_212delinsTA p.Val71*frameshift 1Pathogenic (1)0.000000
227. c.3753T>G p.Y1251Xnonsense 1Pathogenic (1)0.000000
228. c.326C>T p.A109Vmissense 1VUS (1)0.000000
229. c.2234A>G p.D745Gmissense 1VUS (1)0.000000
230. c.2436G>T p.K812Nmissense 1VUS (1)0.000000
231. c.3580G>A p.A1194Tmissense 1VUS (1)0.000008
232. c.436A>C p.T146Pmissense 1VUS (1)0.000000
233. c.3019T>C p.W1007Rmissense 1VUS (1)0.000000
234. c.931T>A p.S311Tmissense 1VUS (1)0.000000
235. c.3572C>T p.S1191Lmissense 1VUS (1)0.000016
236. c.3656T>C p.L1219Pmissense 1VUS (1)0.000000
237. c.1624+1G>A essential splice site 1Pathogenic (1)0.000000
238. c.2909G>A p.R970Qmissense 1Likely Pathogenic (1)0.000032
239. c.2030C>T p.P677Lmissense 1VUS (1)0.000000
240. c.3257G>A p.W1086Xnonsense 1Pathogenic (1)0.000021
241. c.3334_3351del p.Trp1112_Glu1117delinframe 1Likely Pathogenic (1)0.000000
242. c.3825A>G p.X1275TrpextX77nonsense 1Likely Pathogenic (1)0.000000
243. c.2833_2834delCG frameshift 1Pathogenic (1)0.000000
244. c.982delG frameshift 1Pathogenic (1)0.000000
245. c.2708G>A p.G903Dmissense 1Likely Pathogenic (1)0.000000
246. c.2048G>A p.W683Xnonsense 1Pathogenic (1)0.000000
247. c.1458-1G>A essential splice site 1Pathogenic (1)0.000000
248. c.1291G>A p.D431Nmissense 1VUS (1)0.000028
249. c.2834G>A p.R945Qmissense 1VUS (1)0.000000
250. c.631G>A p.D211Nmissense 1VUS (1)0.000009
251. c.2512dup p.Glu838Glyfs*46frameshift 1Pathogenic (1)0.000000
252. c.3256T>C p.W1086Rmissense 1VUS (1)0.000000
253. c.3331-1G>A essential splice site 1Pathogenic (1)0.000000
254. c.103C>T p.R35Wmissense 1VUS (1)0.000056
255. c.711C>A p.Y237Xnonsense 1Pathogenic (1)0.000000
256. c.1457G>A p.W486Xnonsense 1Pathogenic (1)0.000000
257. c.1586C>G p.T529Smissense 1VUS favour pathogenic (1)0.000000
258. c.2654C>T p.T885Mmissense 1VUS (1)0.000022
259. c.655-1G>A essential splice site 1Pathogenic (1)0.000000
260. c.551_552insT p.Lys185GlufsX56frameshift 1Pathogenic (1)0.000000
261. c.1224-2A>G essential splice site 1Pathogenic (1)0.000000
262. c.2541C>A p.Y847Xnonsense 1Pathogenic (1)0.000000
263. c.146_148delTCA p.Ile49delinframe 1VUS (1)0.000039
264. c.1266_1267insTGAT p.Ile423*frameshift 1Pathogenic (1)0.000000
265. c.1174G>T p.A392Smissense 1VUS (1)0.000000
266. c.3776delA frameshift 1Pathogenic (1)0.000000
267. c.3791G>A p.C1264Ymissense 1VUS (1)0.000008
268. c.1359del p.Val454Cysfs*12frameshift 1Pathogenic (1)0.000000
269. c.1591G>C p.G531Rmissense 1VUS favour pathogenic (1)0.000017
270. c.3548T>G p.F1183Cmissense 1Likely Pathogenic (1)0.000000
271. c.2671C>T p.R891Wmissense 1Likely Pathogenic (1)0.000031
272. c.966G>A p.W322Xnonsense 1Pathogenic (1)0.000000
273. c.1505G>T p.R502Lmissense 1VUS favour pathogenic (1)0.000000
274. c.821+1G>C essential splice site 1Pathogenic (1)0.000000
275. c.2641G>A p.V881Imissense 1VUS (1)0.000018
276. c.2517_2538del p.Val840ThrfsX32frameshift 1Pathogenic (1)0.000000
277. c.255del p.Ser86Profs*10frameshift 1Pathogenic (1)0.000000
278. c.553_562del p.Lys185Trpfs*12frameshift 1Pathogenic (1)0.000000
279. c.3742G>A p.G1248Rmissense 1VUS (1)0.000033
280. c.3605delG frameshift 1Pathogenic (1)0.000000
281. c.3713T>C p.L1238Pmissense 1Likely Pathogenic (1)0.000000
282. c.1778C>T p.S593Fmissense 1VUS favour pathogenic (1)0.000034
283. c.518C>A p.T173Nmissense 1VUS (1)0.000000
284. c.2249C>T p.T750Mmissense 1Likely Pathogenic (1)0.000024
285. c.3452C>T p.A1151Vmissense 1VUS (1)0.000078
286. c.3364A>T p.T1122Smissense 1Likely Pathogenic (1)0.000000
287. c.2504G>T p.R835Lmissense 1Likely Pathogenic (1)0.000074
288. c.3614G>A p.R1205Qmissense 1VUS (1)0.000016
289. c.2905+1G>C essential splice site 1Pathogenic (1)0.000000
290. c.1377delC frameshift 1Pathogenic (1)0.000000
291. c.2953A>G p.K985Emissense 1Pathogenic (1)0.000000
292. c.2113_2114insA p.Thr705AsnfsX3frameshift 1Pathogenic (1)0.000000
293. c.1789C>T p.R597Wmissense 1VUS (1)0.000038
294. c.3297dup p.Tyr1100Valfs*49frameshift 1Pathogenic (1)0.000000
295. c.1351+2T>C essential splice site 1Pathogenic (1)0.000000
296. c.1021G>C p.G341Rmissense 1VUS (1)0.000000
297. c.2149_2737del p.Leu717Alafs*11frameshift 1Pathogenic (1)0.000000
298. c.3068_3069insA p.Asn1023LysfsX28frameshift 1Pathogenic (1)0.000000
299. c.1693A>T p.K565Xnonsense 1Pathogenic (1)0.000000
300. c.2875_2876delAC p.Thr959GlyfsX91frameshift 1Pathogenic (1)0.000000
301. c.2518G>A p.V840Mmissense 1VUS (1)0.000016
302. c.3792_3793del p.Cys1264*frameshift 1Likely Pathogenic (1)0.000000
303. c.1112C>T p.P371Lmissense 1VUS (1)0.000028
304. c.2054_2067+11del p.Lys685Argfs*3frameshift 1Pathogenic (1)0.000000
305. c.2748G>A p.W916Xnonsense 1Pathogenic (1)0.000000
306. c.3690_3691delCA p.Phe1230LeufsX11frameshift 1Pathogenic (1)0.000000
307. c.2437A>T p.K813Xnonsense 1Pathogenic (1)0.000000
308. c.1672G>A p.A558Tmissense 1VUS (1)0.000008
309. c.188G>A p.R63Qmissense 1VUS (1)0.000039
310. c.2381C>A p.P794Qmissense 1VUS (1)0.000000
311. c.799C>G p.L267Vmissense 1VUS (1)0.000080
312. c.1523_1525delinsT p.Gln508Leufs*22frameshift 1Pathogenic (1)0.000000
313. c.2603-1G>C essential splice site 1Pathogenic (1)0.000000
314. c.1924C>T p.Q642Xnonsense 1Pathogenic (1)0.000000
315. c.290C>T p.A97Vmissense 1VUS favour pathogenic (1)0.000000
316. c.3083C>G p.T1028Smissense 1VUS (1)0.000000
317. c.3614G>C p.R1205Pmissense 1Likely Pathogenic (1)0.000000
318. c.1021_1028del p.Gly341*frameshift 1Pathogenic (1)0.000000
319. c.1731G>C p.W577Cmissense 1VUS (1)0.000000
320. c.2308+1G>T essential splice site 1Pathogenic (1)0.000000
321. c.993_994insT p.E332Xnonsense 1Pathogenic (1)0.000000
322. c.3415G>A p.V1139Imissense 1VUS (1)0.000087
323. c.1223+2T>C essential splice site 1Pathogenic (1)0.000000
324. c.2528_2536delAGATGCGCG p.Glu843_Arg845delinframe 1Pathogenic (1)0.000000
325. c.1404del p.Gln469Serfs*19frameshift 1Pathogenic (1)0.000000
326. c.2723A>G p.Y908Cmissense 1VUS (1)0.000062
327. c.351_352del p.Gly118Argfs*8frameshift 1Pathogenic (1)0.000000
328. c.2040_2041insT p.Val681CysfsX12frameshift 1Pathogenic (1)0.000000
329. c.655-2del essential splice site 1Pathogenic (1)0.000000
330. c.1188G>T p.W396Cmissense 1VUS (1)0.000000
331. c.121dup p.Arg41Profs*8frameshift 1Pathogenic (1)0.000000
332. c.1090+2T>C essential splice site 1Pathogenic (1)0.000000
333. c.506-1G>T essential splice site 1Pathogenic (1)0.000000
334. c.853G>A p.D285Nmissense 1VUS (1)0.000000
335. c.3281A>T p.N1094Imissense 1VUS (1)0.000000
336. c.1960C>T p.R654Cmissense 1VUS favour benign (1)0.000008
337. c.2312T>C p.V771Amissense 1VUS (1)0.000000
338. c.3413G>C p.R1138Pmissense 1VUS (1)0.000000
339. c.2993A>G p.Q998Rmissense 1VUS favour pathogenic (1)0.000000
340. c.3490+1G>A essential splice site 1Pathogenic (1)0.000000
341. c.3330+1G>C essential splice site 1Pathogenic (1)0.000000
342. c.3G>C p.Met1?missense 1Likely Pathogenic (1)0.000000
343. c.2304_2308+2delCATCGGT essential splice site 1Pathogenic (1)0.000000
344. c.1471G>A p.V491Mmissense 1VUS (1)0.000058
345. c.3043dup p.Ala1015Glyfs*36frameshift 1Pathogenic (1)0.000000
346. c.1898-1G>A essential splice site 1Pathogenic (1)0.000000
347. c.1685C>T p.A562Vmissense 1VUS (1)0.000008
348. c.2429_2503delins23 p.Arg810Profs*10frameshift 1Pathogenic (1)0.000000
349. c.3206C>A p.P1069Hmissense 1Likely Pathogenic (1)0.000000
350. c.3040delC p.Leu1014TrpfsX6frameshift 1Pathogenic (1)0.000000
351. c.2690_2696del p.Gly897Glufs*25frameshift 1Pathogenic (1)0.000000
352. c.1624+2T>C essential splice site 1Pathogenic (1)0.000000
353. c.2737+2T>A essential splice site 1Pathogenic (1)0.000000
354. c.*26+2T>C essential splice site 1Likely Pathogenic (1)0.000000
355. c.3605G>A p.C1202Ymissense 1Likely Pathogenic (1)0.000000
356. c.1153G>A p.V385Mmissense 1VUS (1)0.000010
357. c.2188del p.Thr730Profs*24frameshift 1Pathogenic (1)0.000000
358. c.2807dup p.Ala938Glyfs*113frameshift 1Pathogenic (1)0.000000
359. c.1397T>A p.M466Kmissense 1VUS (1)0.000008
360. c.613C>T p.Q205Xnonsense 1Pathogenic (1)0.000000
361. c.148A>G p.S50Gmissense 1VUS (1)0.000038
362. c.1231A>G p.I411Vmissense 1VUS (1)0.000000
363. c.2247C>A p.Y749Xnonsense 1Pathogenic (1)0.000000
364. c.3332_3335dupAGTG p.W1112Xnonsense 1Pathogenic (1)0.000000
365. c.1455A>T p.K485Nmissense 1VUS (1)0.000000
366. c.2780_2781delCA frameshift 1Pathogenic (1)0.000000
367. c.2828G>A p.R943Qmissense 1VUS (1)0.000025
368. c.3739G>A p.D1247Nmissense 1VUS (1)0.000000
369. c.1575T>G p.Y525Xnonsense 1Pathogenic (1)0.000000
370. c.1797del p.His599Glnfs*3frameshift 1Pathogenic (1)0.000000
371. c.2939G>A p.R980Hmissense 1VUS (1)0.000000
372. c.1535T>A p.L512Qmissense 1VUS favour pathogenic (1)0.000000
373. c.104G>A p.R35Qmissense 1VUS (1)0.000079
374. c.177dup p.Glu60Argfs*53frameshift 1Pathogenic (1)0.000000
375. c.1120C>T p.Q374Xnonsense 1Pathogenic (1)0.000000
376. c.3815-1G>A essential splice site 1Pathogenic (1)0.000000
377. c.451G>A p.D151Nmissense 1VUS (1)0.000041
378. c.391dup p.Ala131Glyfs*22frameshift 1Pathogenic (1)0.000000
379. c.1352_1353del p.Glu451Alafs*23frameshift 1Pathogenic (1)0.000000
380. c.3335G>A p.W1112Xnonsense 1Pathogenic (1)0.000000
381. c.731del p.Lys244Argfs*56frameshift 1Pathogenic (1)0.000000
382. c.3735delC frameshift 1Likely Pathogenic (1)0.000000
383. c.1950C>G p.D650Emissense 1VUS (1)0.000000
384. c.1A>T p.Met1?missense 1Likely Pathogenic (1)0.000000
385. c.241G>T p.V81Fmissense 1VUS (1)0.000000
386. c.2525A>G p.Y842Cmissense 1VUS (1)0.000000
387. c.566T>A p.V189Dmissense 1VUS (1)0.000000
388. c.932C>T p.S311Lmissense 1VUS (1)0.000000
389. c.223G>A p.D75Nmissense 1VUS favour pathogenic (1)0.000091
390. c.2737+1G>C essential splice site 1Pathogenic (1)0.000000
391. c.2198G>A p.R733Hmissense 1VUS (1)0.000034
392. c.3316G>A p.D1106Nmissense 1VUS (1)0.000061
393. c.3357C>A p.Y1119Xnonsense 1Pathogenic (1)0.000000
394. c.2503C>T p.R835Cmissense 1VUS (1)0.000024

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.