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.3190+2T>G essential splice site 9Pathogenic (7)Pathogenic (2)0.000016
22. c.3771C>A p.N1257Kmissense 9Likely Pathogenic (9)0.000000
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.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.2459G>A p.R820Qmissense 6VUS (5)Likely Pathogenic (1)0.000016
30. c.710A>C p.Y237Smissense 6Likely Pathogenic (3)Likely Pathogenic (3)0.000000
31. c.3065G>C p.R1022Pmissense 6Likely Pathogenic (5)VUS favour pathogenic (1)0.000025
32. c.2573G>A p.S858Nmissense 6Likely Pathogenic (2)VUS favour pathogenic (4)0.000000
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.3181C>T p.Q1061Xnonsense 4Pathogenic (3)Pathogenic (1)0.000016
44. c.484C>T p.Q162Xnonsense 4Pathogenic (4)0.000000
45. c.3798C>G p.C1266Wmissense 4VUS (4)0.000000
46. c.26-2A>G essential splice site 4Pathogenic (4)0.000051
47. c.2873C>T p.T958Imissense 4VUS (1)VUS favour benign (3)0.000065
48. c.3742_3759dup p.Gly1248_Cys1253dupinframe 4Likely Pathogenic (4)0.000000
49. c.1591G>A p.G531Rmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000017
50. c.2454G>A p.W818Xnonsense 4Pathogenic (4)0.000000
51. c.3277G>T p.G1093Cmissense 4VUS (3)VUS (1)0.000020
52. c.3286G>T p.E1096Xnonsense 4Pathogenic (3)Pathogenic (1)0.000000
53. c.1483C>T p.R495Wmissense 4Likely Pathogenic (2)VUS favour pathogenic (2)0.000000
54. c.2210C>T p.T737Mmissense 4VUS (3)VUS (1)0.000050
55. c.3408C>A p.Y1136Xnonsense 4Pathogenic (3)Pathogenic (1)0.000000
56. c.3763G>A p.A1255Tmissense 4VUS (3)VUS favour pathogenic (1)0.000075
57. c.3163A>T p.K1055Xnonsense 4Pathogenic (4)0.000000
58. c.2182G>T p.E728Xnonsense 4Pathogenic (4)0.000000
59. c.532G>A p.V178Mmissense 3VUS (1)VUS favour pathogenic (2)0.000020
60. c.2920C>T p.Q974Xnonsense 3Pathogenic (3)0.000000
61. c.3624delC frameshift 3Pathogenic (1)Pathogenic (2)0.000000
62. c.355G>A p.E119Kmissense 3VUS (3)0.000000
63. c.1123G>A p.V375Mmissense 3VUS (3)0.000009
64. c.3491-2A>T essential splice site 3Pathogenic (3)0.000000
65. c.1828G>C p.D610Hmissense 3VUS (1)VUS favour benign (2)0.000058
66. c.2308+1G>A essential splice site 3Pathogenic (2)Pathogenic (1)0.000000
67. c.1720C>T p.R574Wmissense 3VUS (3)0.000054
68. c.3129C>A p.Y1043Xnonsense 3Pathogenic (3)0.000000
69. c.2311_2312insG p.Val771GlyfsX62frameshift 3Pathogenic (3)0.000000
70. c.3767_3769delCCA p.Thr1256delinframe 3Likely Pathogenic (3)0.000000
71. c.2545del p.Val849Serfs*30frameshift 3Pathogenic (3)0.000000
72. c.2309-1G>A essential splice site 3Pathogenic (3)0.000000
73. c.1790G>A p.R597Qmissense 3VUS (1)VUS favour pathogenic (2)0.000000
74. c.2450G>A p.R817Qmissense 3VUS favour pathogenic (3)0.000016
75. c.3600_3609delCTGCTGTGCT frameshift 3Pathogenic (3)Pathogenic (0)0.000000
76. c.833delG p.Gly278GlufsX22frameshift 3Pathogenic (2)Pathogenic (1)0.000000
77. c.3190+1G>A essential splice site 3Pathogenic (3)0.000000
78. c.2558delG frameshift 3Pathogenic (1)Pathogenic (2)0.000000
79. c.1037G>A p.R346Hmissense 3VUS (1)VUS (2)0.000000
80. c.3233G>A p.W1078Xnonsense 3Pathogenic (3)0.000022
81. c.772+1G>A essential splice site 3Pathogenic (1)Pathogenic (2)0.000000
82. c.177_187del p.Glu60AlafsX49frameshift 3Pathogenic (2)Pathogenic (1)0.000000
83. c.2905+2dup essential splice site 2Likely Pathogenic (2)0.000000
84. c.2524dup p.Tyr842Leufs*42frameshift 2Pathogenic (2)0.000000
85. c.1210C>T p.Q404Xnonsense 2Pathogenic (2)0.000000
86. c.3271del p.Asp1091Metfs*98frameshift 2Pathogenic (2)0.000000
87. c.932C>A p.S311Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
88. c.3455_3466del p.Ala1152_Lys1155delinframe 2Likely Pathogenic (2)0.000000
89. c.436_437insA p.Thr146AsnfsX7frameshift 2Pathogenic (2)0.000000
90. c.1869C>A p.C623Xnonsense 2Pathogenic (2)0.000000
91. c.1934C>T p.P645Lmissense 2VUS (2)0.000000
92. c.814C>T p.R272Cmissense 2VUS (2)0.000083
93. c.3470C>T p.P1157Lmissense 2VUS (2)0.000093
94. c.2526C>G p.Y842Xnonsense 2Pathogenic (2)0.000000
95. c.2320G>A p.A774Tmissense 2VUS (2)0.000000
96. c.2300A>G p.K767Rmissense 2VUS (2)0.000016
97. c.1513_1515delAAG inframe 2VUS favour pathogenic (2)0.000000
98. c.1273C>T p.Q425Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
99. c.1897+1G>A essential splice site 2Pathogenic (2)0.000000
100. c.1456T>G p.W486Gmissense 2VUS (1)Likely Pathogenic (1)0.000000
101. c.636C>G p.S212Rmissense 2VUS favour pathogenic (2)0.000000
102. c.1090+1G>T essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
103. c.3253G>T p.E1085Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
104. c.1351+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
105. c.2219G>C p.G740Amissense 2VUS (2)0.000000
106. c.1021G>A p.G341Smissense 2VUS (1)VUS favour pathogenic (1)0.000025
107. c.126G>A p.W42Xnonsense 2Pathogenic (2)0.000000
108. c.3676C>T p.R1226Cmissense 2VUS (1)VUS (1)0.000058
109. c.2432A>G p.K811Rmissense 2VUS (2)0.000000
110. c.1357_1358delCC frameshift 2Pathogenic (2)0.000000
111. c.3811C>T p.R1271Xnonsense 2VUS (1)Pathogenic (1)0.000025
112. c.1863delC p.Phe621LeufsX42frameshift 2Pathogenic (2)0.000000
113. c.3751T>C p.Y1251Hmissense 2VUS (2)0.000000
114. c.1213A>G p.M405Vmissense 2VUS (1)Pathogenic (1)0.000000
115. c.1841A>G p.Y614Cmissense 2VUS (1)VUS favour pathogenic (1)0.000000
116. c.2953A>T p.K985Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
117. c.1886T>C p.L629Pmissense 2VUS (2)0.000000
118. c.2449C>T p.R817Wmissense 2VUS (1)VUS (1)0.000000
119. c.443dup p.Ala149Serfs*4frameshift 2Pathogenic (2)0.000000
120. c.747C>A p.C249Xnonsense 2Pathogenic (2)0.000000
121. c.3373G>A p.V1125Mmissense 2VUS (1)VUS favour pathogenic (1)0.000022
122. c.25+1G>A essential splice site 2Pathogenic (2)0.000000
123. c.2534_2538delGCGTC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
124. c.3192_3193insC p.Lys1065GlnfsX12frameshift 2Pathogenic (2)0.000000
125. c.3624_3625insC p.Lys1209GlnfsX33frameshift 2Pathogenic (2)0.000000
126. c.1090+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
127. c.2943_2947delGACCA frameshift 2Pathogenic (2)0.000000
128. c.999C>G p.Y333Xnonsense 2Pathogenic (2)0.000000
129. c.1766G>A p.R589Hmissense 2VUS (2)0.000000
130. c.3627+1G>T essential splice site 2Pathogenic (2)0.000000
131. c.3005G>A p.R1002Qmissense 2VUS (2)0.000046
132. c.373G>T p.A125Smissense 2VUS (1)VUS (1)0.000000
133. c.1999_2000delinsG p.Leu667AspfsX15frameshift 2Pathogenic (1)Pathogenic (1)0.000000
134. c.557C>T p.P186Lmissense 2VUS (2)0.000047
135. c.818G>A p.R273Hmissense 2VUS (2)0.000042
136. c.844C>T p.R282Wmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
137. c.1038_1042dupCGGCA frameshift 2Pathogenic (1)Pathogenic (1)0.000008
138. c.1895delT p.Met632ArgfsX31frameshift 2Pathogenic (2)0.000000
139. c.459delC frameshift 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.2197C>T p.R733Cmissense 2Likely Pathogenic (1)VUS (1)0.000085
143. c.2269G>A p.V757Mmissense 2VUS (1)VUS (1)0.000066
144. c.3752A>G p.Y1251Cmissense 2VUS (2)0.000000
145. c.551_552insT p.Lys185GlufsX56frameshift 1Pathogenic (1)0.000000
146. c.2541C>A p.Y847Xnonsense 1Pathogenic (1)0.000000
147. c.3331-1G>A essential splice site 1Pathogenic (1)0.000000
148. c.1586C>G p.T529Smissense 1VUS favour pathogenic (1)0.000000
149. c.2718_2719dup p.Glu907Glyfs*18frameshift 1Pathogenic (1)0.000000
150. c.1343T>C p.F448Smissense 1Likely Pathogenic (1)0.000000
151. c.1924C>T p.Q642Xnonsense 1Pathogenic (1)0.000000
152. c.966G>A p.W322Xnonsense 1Pathogenic (1)0.000000
153. c.2065C>T p.Q689Xnonsense 1Pathogenic (1)0.000000
154. c.1505G>T p.R502Lmissense 1VUS favour pathogenic (1)0.000000
155. c.2371C>T p.Q791Xnonsense 1Pathogenic (1)0.000000
156. c.1458G>A p.W486Xnonsense 1Pathogenic (1)0.000000
157. c.3548T>G p.F1183Cmissense 1Likely Pathogenic (1)0.000000
158. c.2584C>T p.Q862Xnonsense 1Pathogenic (1)0.000000
159. c.821+2T>G essential splice site 1Pathogenic (1)0.000000
160. c.1569dup p.His524Alafs*7frameshift 1Pathogenic (1)0.000000
161. c.1201C>T p.Q401Xnonsense 1Pathogenic (1)0.000000
162. c.2517_2538del p.Val840ThrfsX32frameshift 1Pathogenic (1)0.000000
163. c.1376_1377del p.Pro459Leufs*15frameshift 1Pathogenic (1)0.000000
164. c.223G>A p.D75Nmissense 1VUS favour pathogenic (1)0.000091
165. c.256_258del p.Ser86delinframe 1VUS (1)0.000000
166. c.611_618delinsT p.Gly204Valfs*94frameshift 1Pathogenic (1)0.000000
167. c.100_110dup p.Val38Serfs*5frameshift 1Pathogenic (1)0.000000
168. c.713G>A p.R238Hmissense 1VUS (1)0.000074
169. c.3617delG frameshift 1Pathogenic (1)0.000000
170. c.2560A>G p.M854Vmissense 1VUS (1)0.000000
171. c.2995-1G>A essential splice site 1Pathogenic (1)0.000000
172. c.2905+1G>C essential splice site 1Pathogenic (1)0.000000
173. c.1433C>T p.S478Lmissense 1Likely Pathogenic (1)0.000017
174. c.3098G>A p.R1033Qmissense 1VUS (1)0.000000
175. c.1800delA frameshift 1Pathogenic (1)0.000000
176. c.1072G>A p.D358Nmissense 1VUS (1)0.000008
177. c.3746G>T p.G1249Vmissense 1VUS (1)0.000000
178. c.3068_3069insA p.Asn1023LysfsX28frameshift 1Pathogenic (1)0.000000
179. c.2113_2114insA p.Thr705AsnfsX3frameshift 1Pathogenic (1)0.000000
180. c.506-1G>A essential splice site 1Pathogenic (1)0.000000
181. c.1351+2T>C essential splice site 1Pathogenic (1)0.000000
182. c.811_817delTTCCGCC frameshift 1Pathogenic (1)0.000000
183. c.2738-2A>G essential splice site 1Pathogenic (1)0.000000
184. c.2875_2876delAC p.Thr959GlyfsX91frameshift 1Pathogenic (1)0.000000
185. c.3728C>G p.P1243Rmissense 1VUS (1)0.000000
186. c.3690_3691delCA p.Phe1230LeufsX11frameshift 1Pathogenic (1)0.000000
187. c.2968C>G p.P990Amissense 1Likely Pathogenic (1)0.000000
188. c.2437A>T p.K813Xnonsense 1Pathogenic (1)0.000000
189. c.49C>T p.R17Wmissense 1VUS (1)0.000023
190. c.3316del p.Asp1106Thrfs*83frameshift 1Pathogenic (1)0.000000
191. c.2528_2536delAGATGCGCG p.Glu843_Arg845delinframe 1Pathogenic (1)0.000000
192. c.2502del p.Arg835Alafs*2frameshift 1Pathogenic (1)0.000000
193. c.3476_3477delTT frameshift 1Pathogenic (1)0.000000
194. c.290C>T p.A97Vmissense 1VUS favour pathogenic (1)0.000000
195. c.2603-2_2603-1delinsGA essential splice site 1Pathogenic (1)0.000000
196. c.3797G>A p.C1266Ymissense 1Likely Pathogenic (1)0.000000
197. c.2161_2168del p.Thr721Profs*23frameshift 1Pathogenic (1)0.000000
198. c.2780_2781delCA frameshift 1Pathogenic (1)0.000000
199. c.993_994insT p.E332Xnonsense 1Pathogenic (1)0.000000
200. c.2789del p.Leu930Argfs*2frameshift 1Pathogenic (1)0.000000
201. c.436A>C p.T146Pmissense 1VUS (1)0.000000
202. c.1224-1G>T essential splice site 1Pathogenic (1)0.000000
203. c.481C>A p.P161Tmissense 1VUS favour pathogenic (1)0.000041
204. c.506-1G>T essential splice site 1Pathogenic (1)0.000000
205. c.2234A>G p.D745Gmissense 1VUS (1)0.000000
206. c.326C>T p.A109Vmissense 1VUS (1)0.000000
207. c.1405C>T p.Q469Xnonsense 1Pathogenic (1)0.000000
208. c.2040_2041insT p.Val681CysfsX12frameshift 1Pathogenic (1)0.000000
209. c.1080G>C p.K360Nmissense 1VUS (1)0.000000
210. c.3580G>A p.A1194Tmissense 1VUS (1)0.000008
211. c.1188G>T p.W396Cmissense 1VUS (1)0.000000
212. c.1756C>G p.P586Amissense 1Likely Pathogenic (1)0.000000
213. c.3335G>A p.W1112Xnonsense 1Pathogenic (1)0.000000
214. c.3656T>C p.L1219Pmissense 1VUS (1)0.000000
215. c.1097A>C p.Q366Pmissense 1VUS (1)0.000000
216. c.3019T>C p.W1007Rmissense 1VUS (1)0.000000
217. c.365C>A p.A122Dmissense 1VUS (1)0.000000
218. c.931T>A p.S311Tmissense 1VUS (1)0.000000
219. c.1540A>G p.I514Vmissense 1VUS (1)0.000008
220. c.3572C>T p.S1191Lmissense 1VUS (1)0.000016
221. c.701C>A p.T234Nmissense 1Likely Pathogenic (1)0.000000
222. c.2170C>T p.R724Wmissense 1VUS (1)0.000019
223. c.3257G>A p.W1086Xnonsense 1Pathogenic (1)0.000021
224. c.1358C>T p.P453Lmissense 1VUS (1)0.000008
225. c.1624+1G>A essential splice site 1Pathogenic (1)0.000000
226. c.3049G>A p.E1017Kmissense 1VUS favour benign (1)0.000085
227. c.2909G>A p.R970Qmissense 1Likely Pathogenic (1)0.000032
228. c.211_212delinsTA p.Val71*frameshift 1Pathogenic (1)0.000000
229. c.2938C>T p.R980Cmissense 1VUS (1)0.000062
230. c.2030C>T p.P677Lmissense 1VUS (1)0.000000
231. c.631G>A p.D211Nmissense 1VUS (1)0.000009
232. c.1294G>A p.A432Tmissense 1VUS (1)0.000037
233. c.3G>C p.Met1?missense 1Likely Pathogenic (1)0.000000
234. c.982delG frameshift 1Pathogenic (1)0.000000
235. c.2557G>A p.G853Smissense 1VUS (1)0.000008
236. c.1291G>A p.D431Nmissense 1VUS (1)0.000028
237. c.146_148delTCA p.Ile49delinframe 1VUS (1)0.000039
238. c.3040delC p.Leu1014TrpfsX6frameshift 1Pathogenic (1)0.000000
239. c.3334_3351del p.Trp1112_Glu1117delinframe 1Likely Pathogenic (1)0.000000
240. c.711C>A p.Y237Xnonsense 1Pathogenic (1)0.000000
241. c.655-1G>A essential splice site 1Pathogenic (1)0.000000
242. c.2737+2T>A essential splice site 1Pathogenic (1)0.000000
243. c.2993A>G p.Q998Rmissense 1VUS favour pathogenic (1)0.000000
244. c.3605G>A p.C1202Ymissense 1Likely Pathogenic (1)0.000000
245. c.613C>T p.Q205Xnonsense 1Pathogenic (1)0.000000
246. c.2834G>A p.R945Qmissense 1VUS (1)0.000000
247. c.3776delA frameshift 1Pathogenic (1)0.000000
248. c.2512dup p.Glu838Glyfs*46frameshift 1Pathogenic (1)0.000000
249. c.3332_3335dupAGTG p.W1112Xnonsense 1Pathogenic (1)0.000000
250. c.3256T>C p.W1086Rmissense 1VUS (1)0.000000
251. c.2708G>A p.G903Dmissense 1Likely Pathogenic (1)0.000000
252. c.2671C>T p.R891Wmissense 1Likely Pathogenic (1)0.000031
253. c.1457G>A p.W486Xnonsense 1Pathogenic (1)0.000000
254. c.3753T>G p.Y1251Xnonsense 1Pathogenic (1)0.000000
255. c.2641G>A p.V881Imissense 1VUS (1)0.000018
256. c.2939G>A p.R980Hmissense 1VUS (1)0.000000
257. c.1535T>A p.L512Qmissense 1VUS favour pathogenic (1)0.000000
258. c.1266_1267insTGAT p.Ile423*frameshift 1Pathogenic (1)0.000000
259. c.3815-1G>A essential splice site 1Pathogenic (1)0.000000
260. c.1892delT frameshift 1Pathogenic (1)0.000000
261. c.3742G>A p.G1248Rmissense 1VUS (1)0.000033
262. c.518C>A p.T173Nmissense 1VUS (1)0.000000
263. c.1359del p.Val454Cysfs*12frameshift 1Pathogenic (1)0.000000
264. c.3605delG frameshift 1Pathogenic (1)0.000000
265. c.1950C>G p.D650Emissense 1VUS (1)0.000000
266. c.3713T>C p.L1238Pmissense 1Likely Pathogenic (1)0.000000
267. c.1174G>T p.A392Smissense 1VUS (1)0.000000
268. c.2654C>T p.T885Mmissense 1VUS (1)0.000022
269. c.255del p.Ser86Profs*10frameshift 1Pathogenic (1)0.000000
270. c.2249C>T p.T750Mmissense 1Likely Pathogenic (1)0.000024
271. c.3452C>T p.A1151Vmissense 1VUS (1)0.000078
272. c.553_562del p.Lys185Trpfs*12frameshift 1Pathogenic (1)0.000000
273. c.2504G>T p.R835Lmissense 1Likely Pathogenic (1)0.000074
274. c.103C>T p.R35Wmissense 1VUS (1)0.000056
275. c.3614G>A p.R1205Qmissense 1VUS (1)0.000016
276. c.2737+1G>C essential splice site 1Pathogenic (1)0.000000
277. c.1377delC frameshift 1Pathogenic (1)0.000000
278. c.2048G>A p.W683Xnonsense 1Pathogenic (1)0.000000
279. c.1789C>T p.R597Wmissense 1VUS (1)0.000038
280. c.1021G>C p.G341Rmissense 1VUS (1)0.000000
281. c.3791G>A p.C1264Ymissense 1VUS (1)0.000008
282. c.3364A>T p.T1122Smissense 1Likely Pathogenic (1)0.000000
283. c.3288delG frameshift 1Pathogenic (1)0.000000
284. c.1678delG p.Asp560ThrfsX19frameshift 1Pathogenic (1)0.000000
285. c.799C>G p.L267Vmissense 1VUS (1)0.000080
286. c.3792_3793del p.Cys1264*frameshift 1Likely Pathogenic (1)0.000000
287. c.1112C>T p.P371Lmissense 1VUS (1)0.000028
288. c.2149-1G>A essential splice site 1Pathogenic (1)0.000000
289. c.188G>A p.R63Qmissense 1VUS (1)0.000039
290. c.821+1G>C essential splice site 1Pathogenic (1)0.000000
291. c.1156G>T p.E386Xnonsense 1Pathogenic (1)0.000000
292. c.333_334insT p.E112Xnonsense 1Pathogenic (1)0.000000
293. c.3297dup p.Tyr1100Valfs*49frameshift 1Pathogenic (1)0.000000
294. c.2149_2737del p.Leu717Alafs*11frameshift 1Pathogenic (1)0.000000
295. c.2906-2A>G essential splice site 1Pathogenic (1)0.000000
296. c.3614G>C p.R1205Pmissense 1Likely Pathogenic (1)0.000000
297. c.533delT p.Val178GlyfsX7frameshift 1Pathogenic (1)0.000000
298. c.2953A>G p.K985Emissense 1Pathogenic (1)0.000000
299. c.2524_2525insT p.Tyr842LeufsX42frameshift 1Pathogenic (1)0.000000
300. c.2610_2611insC p.Ser871GlnfsX13frameshift 1Pathogenic (1)0.000000
301. c.2381C>A p.P794Qmissense 1VUS (1)0.000000
302. c.1628delA frameshift 1Pathogenic (1)0.000000
303. c.1523_1525delinsT p.Gln508Leufs*22frameshift 1Pathogenic (1)0.000000
304. c.3065G>A p.R1022Hmissense 1VUS favour pathogenic (1)0.000000
305. c.2603-1G>C essential splice site 1Pathogenic (1)0.000000
306. c.2054_2067+11del p.Lys685Argfs*3frameshift 1Pathogenic (1)0.000000
307. c.2748G>A p.W916Xnonsense 1Pathogenic (1)0.000000
308. c.1418T>C p.F473Smissense 1VUS (1)0.000000
309. c.1731G>C p.W577Cmissense 1VUS (1)0.000000
310. c.853G>A p.D285Nmissense 1VUS (1)0.000000
311. c.1223+2T>C essential splice site 1Pathogenic (1)0.000000
312. c.3694A>T p.K1232Xnonsense 1Pathogenic (1)0.000000
313. c.3281A>T p.N1094Imissense 1VUS (1)0.000000
314. c.1404del p.Gln469Serfs*19frameshift 1Pathogenic (1)0.000000
315. c.1778C>T p.S593Fmissense 1VUS favour pathogenic (1)0.000034
316. c.1021_1028del p.Gly341*frameshift 1Pathogenic (1)0.000000
317. c.1672G>A p.A558Tmissense 1VUS (1)0.000008
318. c.3490+1G>A essential splice site 1Pathogenic (1)0.000000
319. c.655-2del essential splice site 1Pathogenic (1)0.000000
320. c.2312T>C p.V771Amissense 1VUS (1)0.000000
321. c.121dup p.Arg41Profs*8frameshift 1Pathogenic (1)0.000000
322. c.1090+2T>C essential splice site 1Pathogenic (1)0.000000
323. c.2518G>A p.V840Mmissense 1VUS (1)0.000016
324. c.351_352del p.Gly118Argfs*8frameshift 1Pathogenic (1)0.000000
325. c.3413G>C p.R1138Pmissense 1VUS (1)0.000000
326. c.3415G>A p.V1139Imissense 1VUS (1)0.000087
327. c.1898-1G>A essential splice site 1Pathogenic (1)0.000000
328. c.2304_2308+2delCATCGGT essential splice site 1Pathogenic (1)0.000000
329. c.1471G>A p.V491Mmissense 1VUS (1)0.000058
330. c.3083C>G p.T1028Smissense 1VUS (1)0.000000
331. c.1153G>A p.V385Mmissense 1VUS (1)0.000010
332. c.1693A>T p.K565Xnonsense 1Pathogenic (1)0.000000
333. c.1685C>T p.A562Vmissense 1VUS (1)0.000008
334. c.1000G>T p.E334Xnonsense 1Pathogenic (1)0.000000
335. c.2723A>G p.Y908Cmissense 1VUS (1)0.000062
336. c.*26+2T>C essential splice site 1Likely Pathogenic (1)0.000000
337. c.1699_1700delGA p.Glu567GlyfsX4frameshift 1Pathogenic (1)0.000000
338. c.1575T>G p.Y525Xnonsense 1Pathogenic (1)0.000000
339. c.2747G>A p.W916Xnonsense 1Pathogenic (1)0.000000
340. c.3739G>A p.D1247Nmissense 1VUS (1)0.000000
341. c.3043dup p.Ala1015Glyfs*36frameshift 1Pathogenic (1)0.000000
342. c.2394_2395insT p.Gly799TrpfsX34frameshift 1Pathogenic (1)0.000000
343. c.148A>G p.S50Gmissense 1VUS (1)0.000038
344. c.3166_3167insG p.Ala1056GlyfsX9frameshift 1Pathogenic (1)0.000000
345. c.3330+1G>C essential splice site 1Pathogenic (1)0.000000
346. c.1591G>C p.G531Rmissense 1VUS favour pathogenic (1)0.000017
347. c.2533C>T p.R845Cmissense 1VUS favour pathogenic (1)0.000000
348. c.2690_2696del p.Gly897Glufs*25frameshift 1Pathogenic (1)0.000000
349. c.3735delC frameshift 1Likely Pathogenic (1)0.000000
350. c.2965G>T p.E989Xnonsense 1Pathogenic (1)0.000000
351. c.2188del p.Thr730Profs*24frameshift 1Pathogenic (1)0.000000
352. c.2807dup p.Ala938Glyfs*113frameshift 1Pathogenic (1)0.000000
353. c.2163delC p.Glu722ArgfsX32frameshift 1Pathogenic (1)0.000000
354. c.2429_2503delins23 p.Arg810Profs*10frameshift 1Pathogenic (1)0.000000
355. c.1224-2A>G essential splice site 1Pathogenic (1)0.000000
356. c.3476_3479dupTTAT p.Pro1161TyrfsX9frameshift 1Pathogenic (1)0.000000
357. c.3206C>A p.P1069Hmissense 1Likely Pathogenic (1)0.000000
358. c.2525A>G p.Y842Cmissense 1VUS (1)0.000000
359. c.1455A>T p.K485Nmissense 1VUS (1)0.000000
360. c.2013_2016delinsGG p.Pro672AspfsX20frameshift 1Pathogenic (1)0.000000
361. c.1797del p.His599Glnfs*3frameshift 1Pathogenic (1)0.000000
362. c.1231A>G p.I411Vmissense 1VUS (1)0.000000
363. c.431_432delGT p.Gly144AlafsX8frameshift 1Pathogenic (1)0.000000
364. c.2247C>A p.Y749Xnonsense 1Pathogenic (1)0.000000
365. c.1120C>T p.Q374Xnonsense 1Pathogenic (1)0.000000
366. c.1960C>T p.R654Cmissense 1VUS favour benign (1)0.000008
367. c.391dup p.Ala131Glyfs*22frameshift 1Pathogenic (1)0.000000
368. c.932C>T p.S311Lmissense 1VUS (1)0.000000
369. c.566T>A p.V189Dmissense 1VUS (1)0.000000
370. c.1352_1353del p.Glu451Alafs*23frameshift 1Pathogenic (1)0.000000
371. c.1397T>A p.M466Kmissense 1VUS (1)0.000008
372. c.731del p.Lys244Argfs*56frameshift 1Pathogenic (1)0.000000
373. c.2436G>T p.K812Nmissense 1VUS (1)0.000000
374. c.177dup p.Glu60Argfs*53frameshift 1Pathogenic (1)0.000000
375. c.2503C>T p.R835Cmissense 1VUS (1)0.000024
376. c.1A>T p.Met1?missense 1Likely Pathogenic (1)0.000000
377. c.2308+1G>T essential splice site 1Pathogenic (1)0.000000
378. c.2828G>A p.R943Qmissense 1VUS (1)0.000025
379. c.241G>T p.V81Fmissense 1VUS (1)0.000000
380. c.2198G>A p.R733Hmissense 1VUS (1)0.000034
381. c.3316G>A p.D1106Nmissense 1VUS (1)0.000061
382. c.3825A>G p.X1275TrpextX77nonsense 1Likely Pathogenic (1)0.000000
383. c.994G>A p.E332Kmissense 1VUS (1)0.000009
384. c.1168delC frameshift 1Pathogenic (1)0.000000
385. c.451G>A p.D151Nmissense 1VUS (1)0.000041
386. c.2265C>A p.N755Kmissense 1Pathogenic (1)0.000000
387. c.1303C>T p.Q435Xnonsense 1Pathogenic (1)0.000000
388. c.1624+2T>C essential splice site 1Pathogenic (1)0.000000
389. c.104G>A p.R35Qmissense 1VUS (1)0.000079
390. c.2833_2834delCG frameshift 1Pathogenic (1)0.000000
391. c.3357C>A p.Y1119Xnonsense 1Pathogenic (1)0.000000
392. c.743_746delACTG frameshift 1Pathogenic (1)0.000000
393. c.1458-1G>A essential splice site 1Pathogenic (1)0.000000
394. c.187C>T p.R63Wmissense 1VUS (1)0.000077

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.