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.2864_2865delCT frameshift 14Pathogenic (8)Pathogenic (6)0.000000
13. c.1483C>G p.R495Gmissense 14Likely Pathogenic (10)Likely Pathogenic (4)0.000000
14. c.3697C>T p.Q1233Xnonsense 13Likely Pathogenic (4)Pathogenic (9)0.000008
15. c.442G>A p.G148Rmissense 11Likely Pathogenic (4)VUS favour pathogenic (7)0.000042
16. c.3330+2T>G essential splice site 11Pathogenic (11)0.000000
17. c.2308G>A p.D770Nmissense 11Likely Pathogenic (5)Likely Pathogenic (6)0.000008
18. c.2604_2605delinsA p.S871fsframeshift 10Pathogenic (8)Pathogenic (2)0.000000
19. c.3613C>T p.R1205Wmissense 10Likely Pathogenic (10)0.000016
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.2309-2A>G essential splice site 9Pathogenic (9)0.000000
23. c.3771C>A p.N1257Kmissense 9Likely Pathogenic (9)0.000000
24. c.1505G>A p.R502Qmissense 8Pathogenic (2)Pathogenic (6)0.000000
25. c.2490_2491insT p.His831SerfsTer2frameshift 8Pathogenic (7)Pathogenic (1)0.000024
26. c.3627+1G>A essential splice site 8Pathogenic (6)Pathogenic (2)0.000000
27. c.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.2573G>A p.S858Nmissense 6Likely Pathogenic (2)VUS favour pathogenic (4)0.000000
32. c.3065G>C p.R1022Pmissense 6Likely Pathogenic (5)VUS favour pathogenic (1)0.000025
33. c.2267delC frameshift 5Pathogenic (5)0.000000
34. c.2556_2557delinsTCT p.Gly853fsframeshift 5Pathogenic (4)Pathogenic (1)0.000000
35. c.821+1G>A essential splice site 5Pathogenic (1)Pathogenic (4)0.000043
36. c.2610delC frameshift 5Pathogenic (5)0.000000
37. c.2374T>C p.W792Rmissense 5Likely Pathogenic (5)0.000000
38. c.821+2T>C essential splice site 5Pathogenic (4)Pathogenic (1)0.000000
39. c.913_914delTT frameshift 5Pathogenic (5)0.000000
40. c.1828G>A p.D610Nmissense 5VUS (2)VUS (3)0.000000
41. c.2905C>T p.Q969Xnonsense 5Pathogenic (2)Pathogenic (3)0.000000
42. c.3064C>T p.R1022Cmissense 5VUS (1)VUS favour pathogenic (4)0.000008
43. c.2210C>T p.T737Mmissense 4VUS (3)VUS (1)0.000050
44. c.26-2A>G essential splice site 4Pathogenic (4)0.000051
45. c.3742_3759dup p.Gly1248_Cys1253dupinframe 4Likely Pathogenic (4)0.000000
46. c.1483C>T p.R495Wmissense 4Likely Pathogenic (2)VUS favour pathogenic (2)0.000000
47. c.1591G>A p.G531Rmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000017
48. c.3408C>A p.Y1136Xnonsense 4Pathogenic (3)Pathogenic (1)0.000000
49. c.3763G>A p.A1255Tmissense 4VUS (3)VUS favour pathogenic (1)0.000075
50. c.3163A>T p.K1055Xnonsense 4Pathogenic (4)0.000000
51. c.3286G>T p.E1096Xnonsense 4Pathogenic (3)Pathogenic (1)0.000000
52. c.3181C>T p.Q1061Xnonsense 4Pathogenic (3)Pathogenic (1)0.000016
53. c.2182G>T p.E728Xnonsense 4Pathogenic (4)0.000000
54. c.2454G>A p.W818Xnonsense 4Pathogenic (4)0.000000
55. c.484C>T p.Q162Xnonsense 4Pathogenic (4)0.000000
56. c.3798C>G p.C1266Wmissense 4VUS (4)0.000000
57. c.3277G>T p.G1093Cmissense 4VUS (3)VUS (1)0.000020
58. c.2873C>T p.T958Imissense 4VUS (1)VUS favour benign (3)0.000065
59. c.3129C>A p.Y1043Xnonsense 3Pathogenic (3)0.000000
60. c.2309-1G>A essential splice site 3Pathogenic (3)0.000000
61. c.2311_2312insG p.Val771GlyfsX62frameshift 3Pathogenic (3)0.000000
62. c.3767_3769delCCA p.Thr1256delinframe 3Likely Pathogenic (3)0.000000
63. c.2545del p.Val849Serfs*30frameshift 3Pathogenic (3)0.000000
64. c.3233G>A p.W1078Xnonsense 3Pathogenic (3)0.000022
65. c.3600_3609delCTGCTGTGCT frameshift 3Pathogenic (3)Pathogenic (0)0.000000
66. c.2450G>A p.R817Qmissense 3VUS favour pathogenic (3)0.000016
67. c.833delG p.Gly278GlufsX22frameshift 3Pathogenic (2)Pathogenic (1)0.000000
68. c.1790G>A p.R597Qmissense 3VUS (1)VUS favour pathogenic (2)0.000000
69. c.1037G>A p.R346Hmissense 3VUS (1)VUS (2)0.000000
70. c.2308+1G>A essential splice site 3Pathogenic (2)Pathogenic (1)0.000000
71. c.3624delC frameshift 3Pathogenic (1)Pathogenic (2)0.000000
72. c.2558delG frameshift 3Pathogenic (1)Pathogenic (2)0.000000
73. c.355G>A p.E119Kmissense 3VUS (3)0.000000
74. c.532G>A p.V178Mmissense 3VUS (1)VUS favour pathogenic (2)0.000020
75. c.772+1G>A essential splice site 3Pathogenic (1)Pathogenic (2)0.000000
76. c.2920C>T p.Q974Xnonsense 3Pathogenic (3)0.000000
77. c.177_187del p.Glu60AlafsX49frameshift 3Pathogenic (2)Pathogenic (1)0.000000
78. c.1123G>A p.V375Mmissense 3VUS (3)0.000009
79. c.1828G>C p.D610Hmissense 3VUS (1)VUS favour benign (2)0.000058
80. c.3491-2A>T essential splice site 3Pathogenic (3)0.000000
81. c.3190+1G>A essential splice site 3Pathogenic (3)0.000000
82. c.1720C>T p.R574Wmissense 3VUS (3)0.000054
83. c.3751T>C p.Y1251Hmissense 2VUS (2)0.000000
84. c.1841A>G p.Y614Cmissense 2VUS (1)VUS favour pathogenic (1)0.000000
85. c.373G>T p.A125Smissense 2VUS (1)VUS (1)0.000000
86. c.2449C>T p.R817Wmissense 2VUS (1)VUS (1)0.000000
87. c.3811C>T p.R1271Xnonsense 2VUS (1)Pathogenic (1)0.000025
88. c.1886T>C p.L629Pmissense 2VUS (2)0.000000
89. c.747C>A p.C249Xnonsense 2Pathogenic (2)0.000000
90. c.2953A>T p.K985Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
91. c.443dup p.Ala149Serfs*4frameshift 2Pathogenic (2)0.000000
92. c.1513_1515delAAG inframe 2VUS favour pathogenic (2)0.000000
93. c.25+1G>A essential splice site 2Pathogenic (2)0.000000
94. c.1863delC p.Phe621LeufsX42frameshift 2Pathogenic (2)0.000000
95. c.1273C>T p.Q425Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
96. c.2269G>A p.V757Mmissense 2VUS (1)VUS (1)0.000066
97. c.999C>G p.Y333Xnonsense 2Pathogenic (2)0.000000
98. c.1210C>T p.Q404Xnonsense 2Pathogenic (2)0.000000
99. c.1766G>A p.R589Hmissense 2VUS (2)0.000000
100. c.1869C>A p.C623Xnonsense 2Pathogenic (2)0.000000
101. c.3627+1G>T essential splice site 2Pathogenic (2)0.000000
102. c.1090+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
103. c.3005G>A p.R1002Qmissense 2VUS (2)0.000046
104. c.3624_3625insC p.Lys1209GlnfsX33frameshift 2Pathogenic (2)0.000000
105. c.3192_3193insC p.Lys1065GlnfsX12frameshift 2Pathogenic (2)0.000000
106. c.1357_1358delCC frameshift 2Pathogenic (2)0.000000
107. c.459delC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
108. c.818G>A p.R273Hmissense 2VUS (2)0.000042
109. c.557C>T p.P186Lmissense 2VUS (2)0.000047
110. c.2320G>A p.A774Tmissense 2VUS (2)0.000000
111. c.1090+1G>T essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
112. c.1999_2000delinsG p.Leu667AspfsX15frameshift 2Pathogenic (1)Pathogenic (1)0.000000
113. c.2882C>T p.P961Lmissense 2VUS (2)0.000048
114. c.1351+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
115. c.3582_3593delGGGCTACACTGC inframe 2Likely Pathogenic (1)0.000000
116. c.2197C>T p.R733Cmissense 2Likely Pathogenic (1)VUS (1)0.000085
117. c.1895delT p.Met632ArgfsX31frameshift 2Pathogenic (2)0.000000
118. c.3752A>G p.Y1251Cmissense 2VUS (2)0.000000
119. c.3455_3466del p.Ala1152_Lys1155delinframe 2Likely Pathogenic (2)0.000000
120. c.3676C>T p.R1226Cmissense 2VUS (1)VUS (1)0.000058
121. c.2905+2dup essential splice site 2Likely Pathogenic (2)0.000000
122. c.2524dup p.Tyr842Leufs*42frameshift 2Pathogenic (2)0.000000
123. c.3271del p.Asp1091Metfs*98frameshift 2Pathogenic (2)0.000000
124. c.436_437insA p.Thr146AsnfsX7frameshift 2Pathogenic (2)0.000000
125. c.1213A>G p.M405Vmissense 2VUS (1)Pathogenic (1)0.000000
126. c.3373G>A p.V1125Mmissense 2VUS (1)VUS favour pathogenic (1)0.000022
127. c.814C>T p.R272Cmissense 2VUS (2)0.000083
128. c.1934C>T p.P645Lmissense 2VUS (2)0.000000
129. c.2526C>G p.Y842Xnonsense 2Pathogenic (2)0.000000
130. c.1038_1042dupCGGCA frameshift 2Pathogenic (1)Pathogenic (1)0.000008
131. c.2534_2538delGCGTC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
132. c.3470C>T p.P1157Lmissense 2VUS (2)0.000093
133. c.1021G>A p.G341Smissense 2VUS (1)VUS favour pathogenic (1)0.000025
134. c.2300A>G p.K767Rmissense 2VUS (2)0.000016
135. c.844C>T p.R282Wmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
136. c.3253G>T p.E1085Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
137. c.636C>G p.S212Rmissense 2VUS favour pathogenic (2)0.000000
138. c.2943_2947delGACCA frameshift 2Pathogenic (2)0.000000
139. c.2219G>C p.G740Amissense 2VUS (2)0.000000
140. c.1456T>G p.W486Gmissense 2VUS (1)Likely Pathogenic (1)0.000000
141. c.126G>A p.W42Xnonsense 2Pathogenic (2)0.000000
142. c.1897+1G>A essential splice site 2Pathogenic (2)0.000000
143. c.932C>A p.S311Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
144. c.2432A>G p.K811Rmissense 2VUS (2)0.000000
145. c.2518G>A p.V840Mmissense 1VUS (1)0.000016
146. c.3334_3351del p.Trp1112_Glu1117delinframe 1Likely Pathogenic (1)0.000000
147. c.711C>A p.Y237Xnonsense 1Pathogenic (1)0.000000
148. c.146_148delTCA p.Ile49delinframe 1VUS (1)0.000039
149. c.1672G>A p.A558Tmissense 1VUS (1)0.000008
150. c.2512dup p.Glu838Glyfs*46frameshift 1Pathogenic (1)0.000000
151. c.3083C>G p.T1028Smissense 1VUS (1)0.000000
152. c.3256T>C p.W1086Rmissense 1VUS (1)0.000000
153. c.2708G>A p.G903Dmissense 1Likely Pathogenic (1)0.000000
154. c.613C>T p.Q205Xnonsense 1Pathogenic (1)0.000000
155. c.2834G>A p.R945Qmissense 1VUS (1)0.000000
156. c.2938C>T p.R980Cmissense 1VUS (1)0.000062
157. c.1224-2A>G essential splice site 1Pathogenic (1)0.000000
158. c.1266_1267insTGAT p.Ile423*frameshift 1Pathogenic (1)0.000000
159. c.3815-1G>A essential splice site 1Pathogenic (1)0.000000
160. c.655-1G>A essential splice site 1Pathogenic (1)0.000000
161. c.1457G>A p.W486Xnonsense 1Pathogenic (1)0.000000
162. c.3040delC p.Leu1014TrpfsX6frameshift 1Pathogenic (1)0.000000
163. c.2641G>A p.V881Imissense 1VUS (1)0.000018
164. c.2939G>A p.R980Hmissense 1VUS (1)0.000000
165. c.1535T>A p.L512Qmissense 1VUS favour pathogenic (1)0.000000
166. c.2723A>G p.Y908Cmissense 1VUS (1)0.000062
167. c.2737+2T>A essential splice site 1Pathogenic (1)0.000000
168. c.1950C>G p.D650Emissense 1VUS (1)0.000000
169. c.3713T>C p.L1238Pmissense 1Likely Pathogenic (1)0.000000
170. c.1294G>A p.A432Tmissense 1VUS (1)0.000037
171. c.1174G>T p.A392Smissense 1VUS (1)0.000000
172. c.2671C>T p.R891Wmissense 1Likely Pathogenic (1)0.000031
173. c.3G>C p.Met1?missense 1Likely Pathogenic (1)0.000000
174. c.3742G>A p.G1248Rmissense 1VUS (1)0.000033
175. c.518C>A p.T173Nmissense 1VUS (1)0.000000
176. c.1359del p.Val454Cysfs*12frameshift 1Pathogenic (1)0.000000
177. c.3332_3335dupAGTG p.W1112Xnonsense 1Pathogenic (1)0.000000
178. c.3776delA frameshift 1Pathogenic (1)0.000000
179. c.3605delG frameshift 1Pathogenic (1)0.000000
180. c.2249C>T p.T750Mmissense 1Likely Pathogenic (1)0.000024
181. c.3452C>T p.A1151Vmissense 1VUS (1)0.000078
182. c.3605G>A p.C1202Ymissense 1Likely Pathogenic (1)0.000000
183. c.553_562del p.Lys185Trpfs*12frameshift 1Pathogenic (1)0.000000
184. c.2504G>T p.R835Lmissense 1Likely Pathogenic (1)0.000074
185. c.3614G>A p.R1205Qmissense 1VUS (1)0.000016
186. c.2833_2834delCG frameshift 1Pathogenic (1)0.000000
187. c.255del p.Ser86Profs*10frameshift 1Pathogenic (1)0.000000
188. c.1800delA frameshift 1Pathogenic (1)0.000000
189. c.1789C>T p.R597Wmissense 1VUS (1)0.000038
190. c.1778C>T p.S593Fmissense 1VUS favour pathogenic (1)0.000034
191. c.1021G>C p.G341Rmissense 1VUS (1)0.000000
192. c.1377delC frameshift 1Pathogenic (1)0.000000
193. c.1112C>T p.P371Lmissense 1VUS (1)0.000028
194. c.188G>A p.R63Qmissense 1VUS (1)0.000039
195. c.1397T>A p.M466Kmissense 1VUS (1)0.000008
196. c.3364A>T p.T1122Smissense 1Likely Pathogenic (1)0.000000
197. c.799C>G p.L267Vmissense 1VUS (1)0.000080
198. c.3792_3793del p.Cys1264*frameshift 1Likely Pathogenic (1)0.000000
199. c.2149_2737del p.Leu717Alafs*11frameshift 1Pathogenic (1)0.000000
200. c.3614G>C p.R1205Pmissense 1Likely Pathogenic (1)0.000000
201. c.533delT p.Val178GlyfsX7frameshift 1Pathogenic (1)0.000000
202. c.2953A>G p.K985Emissense 1Pathogenic (1)0.000000
203. c.2308+1G>T essential splice site 1Pathogenic (1)0.000000
204. c.2828G>A p.R943Qmissense 1VUS (1)0.000025
205. c.3297dup p.Tyr1100Valfs*49frameshift 1Pathogenic (1)0.000000
206. c.1523_1525delinsT p.Gln508Leufs*22frameshift 1Pathogenic (1)0.000000
207. c.3065G>A p.R1022Hmissense 1VUS favour pathogenic (1)0.000000
208. c.2603-1G>C essential splice site 1Pathogenic (1)0.000000
209. c.1924C>T p.Q642Xnonsense 1Pathogenic (1)0.000000
210. c.2054_2067+11del p.Lys685Argfs*3frameshift 1Pathogenic (1)0.000000
211. c.451G>A p.D151Nmissense 1VUS (1)0.000041
212. c.2748G>A p.W916Xnonsense 1Pathogenic (1)0.000000
213. c.2610_2611insC p.Ser871GlnfsX13frameshift 1Pathogenic (1)0.000000
214. c.2381C>A p.P794Qmissense 1VUS (1)0.000000
215. c.2149-1G>A essential splice site 1Pathogenic (1)0.000000
216. c.2524_2525insT p.Tyr842LeufsX42frameshift 1Pathogenic (1)0.000000
217. c.3281A>T p.N1094Imissense 1VUS (1)0.000000
218. c.1404del p.Gln469Serfs*19frameshift 1Pathogenic (1)0.000000
219. c.333_334insT p.E112Xnonsense 1Pathogenic (1)0.000000
220. c.2737+1G>C essential splice site 1Pathogenic (1)0.000000
221. c.1021_1028del p.Gly341*frameshift 1Pathogenic (1)0.000000
222. c.1418T>C p.F473Smissense 1VUS (1)0.000000
223. c.1731G>C p.W577Cmissense 1VUS (1)0.000000
224. c.2906-2A>G essential splice site 1Pathogenic (1)0.000000
225. c.853G>A p.D285Nmissense 1VUS (1)0.000000
226. c.1223+2T>C essential splice site 1Pathogenic (1)0.000000
227. c.3694A>T p.K1232Xnonsense 1Pathogenic (1)0.000000
228. c.821+1G>C essential splice site 1Pathogenic (1)0.000000
229. c.1090+2T>C essential splice site 1Pathogenic (1)0.000000
230. c.1678delG p.Asp560ThrfsX19frameshift 1Pathogenic (1)0.000000
231. c.351_352del p.Gly118Argfs*8frameshift 1Pathogenic (1)0.000000
232. c.3413G>C p.R1138Pmissense 1VUS (1)0.000000
233. c.3490+1G>A essential splice site 1Pathogenic (1)0.000000
234. c.655-2del essential splice site 1Pathogenic (1)0.000000
235. c.2312T>C p.V771Amissense 1VUS (1)0.000000
236. c.2993A>G p.Q998Rmissense 1VUS favour pathogenic (1)0.000000
237. c.121dup p.Arg41Profs*8frameshift 1Pathogenic (1)0.000000
238. c.2304_2308+2delCATCGGT essential splice site 1Pathogenic (1)0.000000
239. c.1471G>A p.V491Mmissense 1VUS (1)0.000058
240. c.1898-1G>A essential splice site 1Pathogenic (1)0.000000
241. c.*26+2T>C essential splice site 1Likely Pathogenic (1)0.000000
242. c.1153G>A p.V385Mmissense 1VUS (1)0.000010
243. c.1960C>T p.R654Cmissense 1VUS favour benign (1)0.000008
244. c.1685C>T p.A562Vmissense 1VUS (1)0.000008
245. c.2560A>G p.M854Vmissense 1VUS (1)0.000000
246. c.3330+1G>C essential splice site 1Pathogenic (1)0.000000
247. c.713G>A p.R238Hmissense 1VUS (1)0.000074
248. c.3739G>A p.D1247Nmissense 1VUS (1)0.000000
249. c.3043dup p.Ala1015Glyfs*36frameshift 1Pathogenic (1)0.000000
250. c.148A>G p.S50Gmissense 1VUS (1)0.000038
251. c.3746G>T p.G1249Vmissense 1VUS (1)0.000000
252. c.2807dup p.Ala938Glyfs*113frameshift 1Pathogenic (1)0.000000
253. c.2163delC p.Glu722ArgfsX32frameshift 1Pathogenic (1)0.000000
254. c.2429_2503delins23 p.Arg810Profs*10frameshift 1Pathogenic (1)0.000000
255. c.3098G>A p.R1033Qmissense 1VUS (1)0.000000
256. c.3206C>A p.P1069Hmissense 1Likely Pathogenic (1)0.000000
257. c.2533C>T p.R845Cmissense 1VUS favour pathogenic (1)0.000000
258. c.2690_2696del p.Gly897Glufs*25frameshift 1Pathogenic (1)0.000000
259. c.2188del p.Thr730Profs*24frameshift 1Pathogenic (1)0.000000
260. c.2780_2781delCA frameshift 1Pathogenic (1)0.000000
261. c.1797del p.His599Glnfs*3frameshift 1Pathogenic (1)0.000000
262. c.2747G>A p.W916Xnonsense 1Pathogenic (1)0.000000
263. c.3415G>A p.V1139Imissense 1VUS (1)0.000087
264. c.1231A>G p.I411Vmissense 1VUS (1)0.000000
265. c.431_432delGT p.Gly144AlafsX8frameshift 1Pathogenic (1)0.000000
266. c.2247C>A p.Y749Xnonsense 1Pathogenic (1)0.000000
267. c.1575T>G p.Y525Xnonsense 1Pathogenic (1)0.000000
268. c.2394_2395insT p.Gly799TrpfsX34frameshift 1Pathogenic (1)0.000000
269. c.2525A>G p.Y842Cmissense 1VUS (1)0.000000
270. c.1455A>T p.K485Nmissense 1VUS (1)0.000000
271. c.2013_2016delinsGG p.Pro672AspfsX20frameshift 1Pathogenic (1)0.000000
272. c.3166_3167insG p.Ala1056GlyfsX9frameshift 1Pathogenic (1)0.000000
273. c.3476_3479dupTTAT p.Pro1161TyrfsX9frameshift 1Pathogenic (1)0.000000
274. c.1699_1700delGA p.Glu567GlyfsX4frameshift 1Pathogenic (1)0.000000
275. c.3335G>A p.W1112Xnonsense 1Pathogenic (1)0.000000
276. c.731del p.Lys244Argfs*56frameshift 1Pathogenic (1)0.000000
277. c.2436G>T p.K812Nmissense 1VUS (1)0.000000
278. c.2965G>T p.E989Xnonsense 1Pathogenic (1)0.000000
279. c.177dup p.Glu60Argfs*53frameshift 1Pathogenic (1)0.000000
280. c.1120C>T p.Q374Xnonsense 1Pathogenic (1)0.000000
281. c.3735delC frameshift 1Likely Pathogenic (1)0.000000
282. c.1000G>T p.E334Xnonsense 1Pathogenic (1)0.000000
283. c.391dup p.Ala131Glyfs*22frameshift 1Pathogenic (1)0.000000
284. c.932C>T p.S311Lmissense 1VUS (1)0.000000
285. c.3288delG frameshift 1Pathogenic (1)0.000000
286. c.566T>A p.V189Dmissense 1VUS (1)0.000000
287. c.1352_1353del p.Glu451Alafs*23frameshift 1Pathogenic (1)0.000000
288. c.241G>T p.V81Fmissense 1VUS (1)0.000000
289. c.2048G>A p.W683Xnonsense 1Pathogenic (1)0.000000
290. c.2198G>A p.R733Hmissense 1VUS (1)0.000034
291. c.3316G>A p.D1106Nmissense 1VUS (1)0.000061
292. c.2503C>T p.R835Cmissense 1VUS (1)0.000024
293. c.1A>T p.Met1?missense 1Likely Pathogenic (1)0.000000
294. c.1303C>T p.Q435Xnonsense 1Pathogenic (1)0.000000
295. c.223G>A p.D75Nmissense 1VUS favour pathogenic (1)0.000091
296. c.994G>A p.E332Kmissense 1VUS (1)0.000009
297. c.2265C>A p.N755Kmissense 1Pathogenic (1)0.000000
298. c.187C>T p.R63Wmissense 1VUS (1)0.000077
299. c.1540A>G p.I514Vmissense 1VUS (1)0.000008
300. c.3357C>A p.Y1119Xnonsense 1Pathogenic (1)0.000000
301. c.743_746delACTG frameshift 1Pathogenic (1)0.000000
302. c.1358C>T p.P453Lmissense 1VUS (1)0.000008
303. c.1586C>G p.T529Smissense 1VUS favour pathogenic (1)0.000000
304. c.2718_2719dup p.Glu907Glyfs*18frameshift 1Pathogenic (1)0.000000
305. c.551_552insT p.Lys185GlufsX56frameshift 1Pathogenic (1)0.000000
306. c.2170C>T p.R724Wmissense 1VUS (1)0.000019
307. c.3049G>A p.E1017Kmissense 1VUS favour benign (1)0.000085
308. c.2371C>T p.Q791Xnonsense 1Pathogenic (1)0.000000
309. c.1458G>A p.W486Xnonsense 1Pathogenic (1)0.000000
310. c.3548T>G p.F1183Cmissense 1Likely Pathogenic (1)0.000000
311. c.2584C>T p.Q862Xnonsense 1Pathogenic (1)0.000000
312. c.966G>A p.W322Xnonsense 1Pathogenic (1)0.000000
313. c.2065C>T p.Q689Xnonsense 1Pathogenic (1)0.000000
314. c.1505G>T p.R502Lmissense 1VUS favour pathogenic (1)0.000000
315. c.2557G>A p.G853Smissense 1VUS (1)0.000008
316. c.104G>A p.R35Qmissense 1VUS (1)0.000079
317. c.1892delT frameshift 1Pathogenic (1)0.000000
318. c.1201C>T p.Q401Xnonsense 1Pathogenic (1)0.000000
319. c.2517_2538del p.Val840ThrfsX32frameshift 1Pathogenic (1)0.000000
320. c.1343T>C p.F448Smissense 1Likely Pathogenic (1)0.000000
321. c.2541C>A p.Y847Xnonsense 1Pathogenic (1)0.000000
322. c.3825A>G p.X1275TrpextX77nonsense 1Likely Pathogenic (1)0.000000
323. c.1376_1377del p.Pro459Leufs*15frameshift 1Pathogenic (1)0.000000
324. c.3331-1G>A essential splice site 1Pathogenic (1)0.000000
325. c.821+2T>G essential splice site 1Pathogenic (1)0.000000
326. c.1569dup p.His524Alafs*7frameshift 1Pathogenic (1)0.000000
327. c.3476_3477delTT frameshift 1Pathogenic (1)0.000000
328. c.100_110dup p.Val38Serfs*5frameshift 1Pathogenic (1)0.000000
329. c.3617delG frameshift 1Pathogenic (1)0.000000
330. c.2995-1G>A essential splice site 1Pathogenic (1)0.000000
331. c.256_258del p.Ser86delinframe 1VUS (1)0.000000
332. c.1591G>C p.G531Rmissense 1VUS favour pathogenic (1)0.000017
333. c.1458-1G>A essential splice site 1Pathogenic (1)0.000000
334. c.611_618delinsT p.Gly204Valfs*94frameshift 1Pathogenic (1)0.000000
335. c.1072G>A p.D358Nmissense 1VUS (1)0.000008
336. c.1433C>T p.S478Lmissense 1Likely Pathogenic (1)0.000017
337. c.481C>A p.P161Tmissense 1VUS favour pathogenic (1)0.000041
338. c.1693A>T p.K565Xnonsense 1Pathogenic (1)0.000000
339. c.506-1G>A essential splice site 1Pathogenic (1)0.000000
340. c.811_817delTTCCGCC frameshift 1Pathogenic (1)0.000000
341. c.3690_3691delCA p.Phe1230LeufsX11frameshift 1Pathogenic (1)0.000000
342. c.2968C>G p.P990Amissense 1Likely Pathogenic (1)0.000000
343. c.49C>T p.R17Wmissense 1VUS (1)0.000023
344. c.2654C>T p.T885Mmissense 1VUS (1)0.000022
345. c.3316del p.Asp1106Thrfs*83frameshift 1Pathogenic (1)0.000000
346. c.103C>T p.R35Wmissense 1VUS (1)0.000056
347. c.2738-2A>G essential splice site 1Pathogenic (1)0.000000
348. c.3728C>G p.P1243Rmissense 1VUS (1)0.000000
349. c.2161_2168del p.Thr721Profs*23frameshift 1Pathogenic (1)0.000000
350. c.993_994insT p.E332Xnonsense 1Pathogenic (1)0.000000
351. c.3791G>A p.C1264Ymissense 1VUS (1)0.000008
352. c.2789del p.Leu930Argfs*2frameshift 1Pathogenic (1)0.000000
353. c.1156G>T p.E386Xnonsense 1Pathogenic (1)0.000000
354. c.2528_2536delAGATGCGCG p.Glu843_Arg845delinframe 1Pathogenic (1)0.000000
355. c.2502del p.Arg835Alafs*2frameshift 1Pathogenic (1)0.000000
356. c.2113_2114insA p.Thr705AsnfsX3frameshift 1Pathogenic (1)0.000000
357. c.290C>T p.A97Vmissense 1VUS favour pathogenic (1)0.000000
358. c.2603-2_2603-1delinsGA essential splice site 1Pathogenic (1)0.000000
359. c.1405C>T p.Q469Xnonsense 1Pathogenic (1)0.000000
360. c.2040_2041insT p.Val681CysfsX12frameshift 1Pathogenic (1)0.000000
361. c.2905+1G>C essential splice site 1Pathogenic (1)0.000000
362. c.1080G>C p.K360Nmissense 1VUS (1)0.000000
363. c.3580G>A p.A1194Tmissense 1VUS (1)0.000008
364. c.1188G>T p.W396Cmissense 1VUS (1)0.000000
365. c.1756C>G p.P586Amissense 1Likely Pathogenic (1)0.000000
366. c.2875_2876delAC p.Thr959GlyfsX91frameshift 1Pathogenic (1)0.000000
367. c.436A>C p.T146Pmissense 1VUS (1)0.000000
368. c.1628delA frameshift 1Pathogenic (1)0.000000
369. c.1224-1G>T essential splice site 1Pathogenic (1)0.000000
370. c.506-1G>T essential splice site 1Pathogenic (1)0.000000
371. c.2437A>T p.K813Xnonsense 1Pathogenic (1)0.000000
372. c.2234A>G p.D745Gmissense 1VUS (1)0.000000
373. c.326C>T p.A109Vmissense 1VUS (1)0.000000
374. c.3019T>C p.W1007Rmissense 1VUS (1)0.000000
375. c.1351+2T>C essential splice site 1Pathogenic (1)0.000000
376. c.365C>A p.A122Dmissense 1VUS (1)0.000000
377. c.931T>A p.S311Tmissense 1VUS (1)0.000000
378. c.3572C>T p.S1191Lmissense 1VUS (1)0.000016
379. c.3068_3069insA p.Asn1023LysfsX28frameshift 1Pathogenic (1)0.000000
380. c.701C>A p.T234Nmissense 1Likely Pathogenic (1)0.000000
381. c.3656T>C p.L1219Pmissense 1VUS (1)0.000000
382. c.1097A>C p.Q366Pmissense 1VUS (1)0.000000
383. c.3797G>A p.C1266Ymissense 1Likely Pathogenic (1)0.000000
384. c.1624+1G>A essential splice site 1Pathogenic (1)0.000000
385. c.2909G>A p.R970Qmissense 1Likely Pathogenic (1)0.000032
386. c.211_212delinsTA p.Val71*frameshift 1Pathogenic (1)0.000000
387. c.1624+2T>C essential splice site 1Pathogenic (1)0.000000
388. c.1168delC frameshift 1Pathogenic (1)0.000000
389. c.2030C>T p.P677Lmissense 1VUS (1)0.000000
390. c.3257G>A p.W1086Xnonsense 1Pathogenic (1)0.000021
391. c.3753T>G p.Y1251Xnonsense 1Pathogenic (1)0.000000
392. c.1291G>A p.D431Nmissense 1VUS (1)0.000028
393. c.631G>A p.D211Nmissense 1VUS (1)0.000009
394. c.982delG frameshift 1Pathogenic (1)0.000000

References

1. Roddy Walsh, Kate L. Thomson, James S. Ware, Birgit H. Funke, Jessica Woodley, Karen J. McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C. Taylor, Eric V. Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook and Hugh Watkins. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2016 doi:10.1038/gim.2016.90.

2. Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Nov;17(11):880-8.