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