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.3771C>A p.N1257Kmissense 9Likely Pathogenic (9)0.000000
22. c.2309-2A>G essential splice site 9Pathogenic (9)0.000000
23. c.3190+2T>G essential splice site 9Pathogenic (7)Pathogenic (2)0.000016
24. c.3627+1G>A essential splice site 8Pathogenic (6)Pathogenic (2)0.000000
25. c.1505G>A p.R502Qmissense 8Pathogenic (2)Pathogenic (6)0.000000
26. c.2490_2491insT p.His831SerfsTer2frameshift 8Pathogenic (7)Pathogenic (1)0.000024
27. c.2905+1G>A essential splice site 7Pathogenic (3)Pathogenic (4)0.000000
28. c.2670G>A p.W890Xnonsense 7Pathogenic (7)0.000000
29. c.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.484C>T p.Q162Xnonsense 4Pathogenic (4)0.000000
44. c.3181C>T p.Q1061Xnonsense 4Pathogenic (3)Pathogenic (1)0.000016
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.3286G>T p.E1096Xnonsense 4Pathogenic (3)Pathogenic (1)0.000000
52. c.3277G>T p.G1093Cmissense 4VUS (3)VUS (1)0.000020
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.355G>A p.E119Kmissense 3VUS (3)0.000000
60. c.1123G>A p.V375Mmissense 3VUS (3)0.000009
61. c.3491-2A>T essential splice site 3Pathogenic (3)0.000000
62. c.1828G>C p.D610Hmissense 3VUS (1)VUS favour benign (2)0.000058
63. c.2308+1G>A essential splice site 3Pathogenic (2)Pathogenic (1)0.000000
64. c.1720C>T p.R574Wmissense 3VUS (3)0.000054
65. c.3129C>A p.Y1043Xnonsense 3Pathogenic (3)0.000000
66. c.2311_2312insG p.Val771GlyfsX62frameshift 3Pathogenic (3)0.000000
67. c.2309-1G>A essential splice site 3Pathogenic (3)0.000000
68. c.3767_3769delCCA p.Thr1256delinframe 3Likely Pathogenic (3)0.000000
69. c.2545del p.Val849Serfs*30frameshift 3Pathogenic (3)0.000000
70. c.1790G>A p.R597Qmissense 3VUS (1)VUS favour pathogenic (2)0.000000
71. c.833delG p.Gly278GlufsX22frameshift 3Pathogenic (2)Pathogenic (1)0.000000
72. c.2450G>A p.R817Qmissense 3VUS favour pathogenic (3)0.000016
73. c.3600_3609delCTGCTGTGCT frameshift 3Pathogenic (3)Pathogenic (0)0.000000
74. c.3190+1G>A essential splice site 3Pathogenic (3)0.000000
75. c.2558delG frameshift 3Pathogenic (1)Pathogenic (2)0.000000
76. c.1037G>A p.R346Hmissense 3VUS (1)VUS (2)0.000000
77. c.3233G>A p.W1078Xnonsense 3Pathogenic (3)0.000022
78. c.772+1G>A essential splice site 3Pathogenic (1)Pathogenic (2)0.000000
79. c.177_187del p.Glu60AlafsX49frameshift 3Pathogenic (2)Pathogenic (1)0.000000
80. c.2920C>T p.Q974Xnonsense 3Pathogenic (3)0.000000
81. c.532G>A p.V178Mmissense 3VUS (1)VUS favour pathogenic (2)0.000020
82. c.3624delC frameshift 3Pathogenic (1)Pathogenic (2)0.000000
83. c.814C>T p.R272Cmissense 2VUS (2)0.000083
84. c.1934C>T p.P645Lmissense 2VUS (2)0.000000
85. c.3470C>T p.P1157Lmissense 2VUS (2)0.000093
86. c.2526C>G p.Y842Xnonsense 2Pathogenic (2)0.000000
87. c.2300A>G p.K767Rmissense 2VUS (2)0.000016
88. c.2320G>A p.A774Tmissense 2VUS (2)0.000000
89. c.1513_1515delAAG inframe 2VUS favour pathogenic (2)0.000000
90. c.1273C>T p.Q425Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
91. c.1090+1G>T essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
92. c.3253G>T p.E1085Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
93. c.1897+1G>A essential splice site 2Pathogenic (2)0.000000
94. c.1456T>G p.W486Gmissense 2VUS (1)Likely Pathogenic (1)0.000000
95. c.636C>G p.S212Rmissense 2VUS favour pathogenic (2)0.000000
96. c.1351+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
97. c.2219G>C p.G740Amissense 2VUS (2)0.000000
98. c.1021G>A p.G341Smissense 2VUS (1)VUS favour pathogenic (1)0.000025
99. c.126G>A p.W42Xnonsense 2Pathogenic (2)0.000000
100. c.3676C>T p.R1226Cmissense 2VUS (1)VUS (1)0.000058
101. c.2432A>G p.K811Rmissense 2VUS (2)0.000000
102. c.1357_1358delCC frameshift 2Pathogenic (2)0.000000
103. c.3751T>C p.Y1251Hmissense 2VUS (2)0.000000
104. c.3811C>T p.R1271Xnonsense 2VUS (1)Pathogenic (1)0.000025
105. c.1863delC p.Phe621LeufsX42frameshift 2Pathogenic (2)0.000000
106. c.1841A>G p.Y614Cmissense 2VUS (1)VUS favour pathogenic (1)0.000000
107. c.2953A>T p.K985Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
108. c.1213A>G p.M405Vmissense 2VUS (1)Pathogenic (1)0.000000
109. c.2449C>T p.R817Wmissense 2VUS (1)VUS (1)0.000000
110. c.1886T>C p.L629Pmissense 2VUS (2)0.000000
111. c.443dup p.Ala149Serfs*4frameshift 2Pathogenic (2)0.000000
112. c.747C>A p.C249Xnonsense 2Pathogenic (2)0.000000
113. c.25+1G>A essential splice site 2Pathogenic (2)0.000000
114. c.3373G>A p.V1125Mmissense 2VUS (1)VUS favour pathogenic (1)0.000022
115. c.2534_2538delGCGTC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
116. c.3192_3193insC p.Lys1065GlnfsX12frameshift 2Pathogenic (2)0.000000
117. c.2943_2947delGACCA frameshift 2Pathogenic (2)0.000000
118. c.999C>G p.Y333Xnonsense 2Pathogenic (2)0.000000
119. c.3624_3625insC p.Lys1209GlnfsX33frameshift 2Pathogenic (2)0.000000
120. c.1090+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
121. c.1766G>A p.R589Hmissense 2VUS (2)0.000000
122. c.3005G>A p.R1002Qmissense 2VUS (2)0.000046
123. c.3627+1G>T essential splice site 2Pathogenic (2)0.000000
124. c.373G>T p.A125Smissense 2VUS (1)VUS (1)0.000000
125. c.1999_2000delinsG p.Leu667AspfsX15frameshift 2Pathogenic (1)Pathogenic (1)0.000000
126. c.557C>T p.P186Lmissense 2VUS (2)0.000047
127. c.818G>A p.R273Hmissense 2VUS (2)0.000042
128. c.844C>T p.R282Wmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
129. c.1895delT p.Met632ArgfsX31frameshift 2Pathogenic (2)0.000000
130. c.1038_1042dupCGGCA frameshift 2Pathogenic (1)Pathogenic (1)0.000008
131. c.459delC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
132. c.2882C>T p.P961Lmissense 2VUS (2)0.000048
133. c.2197C>T p.R733Cmissense 2Likely Pathogenic (1)VUS (1)0.000085
134. c.2269G>A p.V757Mmissense 2VUS (1)VUS (1)0.000066
135. c.3582_3593delGGGCTACACTGC inframe 2Likely Pathogenic (1)0.000000
136. c.3752A>G p.Y1251Cmissense 2VUS (2)0.000000
137. c.3455_3466del p.Ala1152_Lys1155delinframe 2Likely Pathogenic (2)0.000000
138. c.2905+2dup essential splice site 2Likely Pathogenic (2)0.000000
139. c.2524dup p.Tyr842Leufs*42frameshift 2Pathogenic (2)0.000000
140. c.1210C>T p.Q404Xnonsense 2Pathogenic (2)0.000000
141. c.3271del p.Asp1091Metfs*98frameshift 2Pathogenic (2)0.000000
142. c.932C>A p.S311Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
143. c.436_437insA p.Thr146AsnfsX7frameshift 2Pathogenic (2)0.000000
144. c.1869C>A p.C623Xnonsense 2Pathogenic (2)0.000000
145. c.1376_1377del p.Pro459Leufs*15frameshift 1Pathogenic (1)0.000000
146. c.223G>A p.D75Nmissense 1VUS favour pathogenic (1)0.000091
147. c.821+2T>G essential splice site 1Pathogenic (1)0.000000
148. c.1569dup p.His524Alafs*7frameshift 1Pathogenic (1)0.000000
149. c.1201C>T p.Q401Xnonsense 1Pathogenic (1)0.000000
150. c.2517_2538del p.Val840ThrfsX32frameshift 1Pathogenic (1)0.000000
151. c.713G>A p.R238Hmissense 1VUS (1)0.000074
152. c.3617delG frameshift 1Pathogenic (1)0.000000
153. c.2560A>G p.M854Vmissense 1VUS (1)0.000000
154. c.2995-1G>A essential splice site 1Pathogenic (1)0.000000
155. c.256_258del p.Ser86delinframe 1VUS (1)0.000000
156. c.611_618delinsT p.Gly204Valfs*94frameshift 1Pathogenic (1)0.000000
157. c.100_110dup p.Val38Serfs*5frameshift 1Pathogenic (1)0.000000
158. c.1072G>A p.D358Nmissense 1VUS (1)0.000008
159. c.3746G>T p.G1249Vmissense 1VUS (1)0.000000
160. c.2905+1G>C essential splice site 1Pathogenic (1)0.000000
161. c.1433C>T p.S478Lmissense 1Likely Pathogenic (1)0.000017
162. c.3098G>A p.R1033Qmissense 1VUS (1)0.000000
163. c.1800delA frameshift 1Pathogenic (1)0.000000
164. c.1351+2T>C essential splice site 1Pathogenic (1)0.000000
165. c.811_817delTTCCGCC frameshift 1Pathogenic (1)0.000000
166. c.3068_3069insA p.Asn1023LysfsX28frameshift 1Pathogenic (1)0.000000
167. c.2113_2114insA p.Thr705AsnfsX3frameshift 1Pathogenic (1)0.000000
168. c.506-1G>A essential splice site 1Pathogenic (1)0.000000
169. c.49C>T p.R17Wmissense 1VUS (1)0.000023
170. c.3316del p.Asp1106Thrfs*83frameshift 1Pathogenic (1)0.000000
171. c.2738-2A>G essential splice site 1Pathogenic (1)0.000000
172. c.2875_2876delAC p.Thr959GlyfsX91frameshift 1Pathogenic (1)0.000000
173. c.3728C>G p.P1243Rmissense 1VUS (1)0.000000
174. c.3690_3691delCA p.Phe1230LeufsX11frameshift 1Pathogenic (1)0.000000
175. c.2968C>G p.P990Amissense 1Likely Pathogenic (1)0.000000
176. c.2437A>T p.K813Xnonsense 1Pathogenic (1)0.000000
177. c.2161_2168del p.Thr721Profs*23frameshift 1Pathogenic (1)0.000000
178. c.2780_2781delCA frameshift 1Pathogenic (1)0.000000
179. c.993_994insT p.E332Xnonsense 1Pathogenic (1)0.000000
180. c.2789del p.Leu930Argfs*2frameshift 1Pathogenic (1)0.000000
181. c.2528_2536delAGATGCGCG p.Glu843_Arg845delinframe 1Pathogenic (1)0.000000
182. c.2502del p.Arg835Alafs*2frameshift 1Pathogenic (1)0.000000
183. c.3476_3477delTT frameshift 1Pathogenic (1)0.000000
184. c.290C>T p.A97Vmissense 1VUS favour pathogenic (1)0.000000
185. c.2603-2_2603-1delinsGA essential splice site 1Pathogenic (1)0.000000
186. c.3797G>A p.C1266Ymissense 1Likely Pathogenic (1)0.000000
187. c.1080G>C p.K360Nmissense 1VUS (1)0.000000
188. c.3580G>A p.A1194Tmissense 1VUS (1)0.000008
189. c.1188G>T p.W396Cmissense 1VUS (1)0.000000
190. c.1756C>G p.P586Amissense 1Likely Pathogenic (1)0.000000
191. c.3335G>A p.W1112Xnonsense 1Pathogenic (1)0.000000
192. c.436A>C p.T146Pmissense 1VUS (1)0.000000
193. c.1224-1G>T essential splice site 1Pathogenic (1)0.000000
194. c.481C>A p.P161Tmissense 1VUS favour pathogenic (1)0.000041
195. c.506-1G>T essential splice site 1Pathogenic (1)0.000000
196. c.2234A>G p.D745Gmissense 1VUS (1)0.000000
197. c.326C>T p.A109Vmissense 1VUS (1)0.000000
198. c.1405C>T p.Q469Xnonsense 1Pathogenic (1)0.000000
199. c.2040_2041insT p.Val681CysfsX12frameshift 1Pathogenic (1)0.000000
200. c.1540A>G p.I514Vmissense 1VUS (1)0.000008
201. c.3572C>T p.S1191Lmissense 1VUS (1)0.000016
202. c.701C>A p.T234Nmissense 1Likely Pathogenic (1)0.000000
203. c.3656T>C p.L1219Pmissense 1VUS (1)0.000000
204. c.1097A>C p.Q366Pmissense 1VUS (1)0.000000
205. c.3019T>C p.W1007Rmissense 1VUS (1)0.000000
206. c.365C>A p.A122Dmissense 1VUS (1)0.000000
207. c.931T>A p.S311Tmissense 1VUS (1)0.000000
208. c.2909G>A p.R970Qmissense 1Likely Pathogenic (1)0.000032
209. c.211_212delinsTA p.Val71*frameshift 1Pathogenic (1)0.000000
210. c.2938C>T p.R980Cmissense 1VUS (1)0.000062
211. c.2030C>T p.P677Lmissense 1VUS (1)0.000000
212. c.2170C>T p.R724Wmissense 1VUS (1)0.000019
213. c.3257G>A p.W1086Xnonsense 1Pathogenic (1)0.000021
214. c.1358C>T p.P453Lmissense 1VUS (1)0.000008
215. c.1624+1G>A essential splice site 1Pathogenic (1)0.000000
216. c.3049G>A p.E1017Kmissense 1VUS favour benign (1)0.000085
217. c.1291G>A p.D431Nmissense 1VUS (1)0.000028
218. c.631G>A p.D211Nmissense 1VUS (1)0.000009
219. c.1294G>A p.A432Tmissense 1VUS (1)0.000037
220. c.3G>C p.Met1?missense 1Likely Pathogenic (1)0.000000
221. c.982delG frameshift 1Pathogenic (1)0.000000
222. c.2557G>A p.G853Smissense 1VUS (1)0.000008
223. c.655-1G>A essential splice site 1Pathogenic (1)0.000000
224. c.2737+2T>A essential splice site 1Pathogenic (1)0.000000
225. c.2993A>G p.Q998Rmissense 1VUS favour pathogenic (1)0.000000
226. c.3605G>A p.C1202Ymissense 1Likely Pathogenic (1)0.000000
227. c.146_148delTCA p.Ile49delinframe 1VUS (1)0.000039
228. c.3040delC p.Leu1014TrpfsX6frameshift 1Pathogenic (1)0.000000
229. c.3334_3351del p.Trp1112_Glu1117delinframe 1Likely Pathogenic (1)0.000000
230. c.711C>A p.Y237Xnonsense 1Pathogenic (1)0.000000
231. c.2708G>A p.G903Dmissense 1Likely Pathogenic (1)0.000000
232. c.2671C>T p.R891Wmissense 1Likely Pathogenic (1)0.000031
233. c.613C>T p.Q205Xnonsense 1Pathogenic (1)0.000000
234. c.2834G>A p.R945Qmissense 1VUS (1)0.000000
235. c.3776delA frameshift 1Pathogenic (1)0.000000
236. c.2512dup p.Glu838Glyfs*46frameshift 1Pathogenic (1)0.000000
237. c.3332_3335dupAGTG p.W1112Xnonsense 1Pathogenic (1)0.000000
238. c.3256T>C p.W1086Rmissense 1VUS (1)0.000000
239. c.3815-1G>A essential splice site 1Pathogenic (1)0.000000
240. c.1892delT frameshift 1Pathogenic (1)0.000000
241. c.1457G>A p.W486Xnonsense 1Pathogenic (1)0.000000
242. c.3753T>G p.Y1251Xnonsense 1Pathogenic (1)0.000000
243. c.2641G>A p.V881Imissense 1VUS (1)0.000018
244. c.2939G>A p.R980Hmissense 1VUS (1)0.000000
245. c.1535T>A p.L512Qmissense 1VUS favour pathogenic (1)0.000000
246. c.1266_1267insTGAT p.Ile423*frameshift 1Pathogenic (1)0.000000
247. c.3713T>C p.L1238Pmissense 1Likely Pathogenic (1)0.000000
248. c.1174G>T p.A392Smissense 1VUS (1)0.000000
249. c.3742G>A p.G1248Rmissense 1VUS (1)0.000033
250. c.518C>A p.T173Nmissense 1VUS (1)0.000000
251. c.1359del p.Val454Cysfs*12frameshift 1Pathogenic (1)0.000000
252. c.3605delG frameshift 1Pathogenic (1)0.000000
253. c.1950C>G p.D650Emissense 1VUS (1)0.000000
254. c.2504G>T p.R835Lmissense 1Likely Pathogenic (1)0.000074
255. c.103C>T p.R35Wmissense 1VUS (1)0.000056
256. c.3614G>A p.R1205Qmissense 1VUS (1)0.000016
257. c.2654C>T p.T885Mmissense 1VUS (1)0.000022
258. c.255del p.Ser86Profs*10frameshift 1Pathogenic (1)0.000000
259. c.2249C>T p.T750Mmissense 1Likely Pathogenic (1)0.000024
260. c.3452C>T p.A1151Vmissense 1VUS (1)0.000078
261. c.553_562del p.Lys185Trpfs*12frameshift 1Pathogenic (1)0.000000
262. c.1021G>C p.G341Rmissense 1VUS (1)0.000000
263. c.3791G>A p.C1264Ymissense 1VUS (1)0.000008
264. c.2737+1G>C essential splice site 1Pathogenic (1)0.000000
265. c.1377delC frameshift 1Pathogenic (1)0.000000
266. c.2048G>A p.W683Xnonsense 1Pathogenic (1)0.000000
267. c.1789C>T p.R597Wmissense 1VUS (1)0.000038
268. c.2149-1G>A essential splice site 1Pathogenic (1)0.000000
269. c.188G>A p.R63Qmissense 1VUS (1)0.000039
270. c.821+1G>C essential splice site 1Pathogenic (1)0.000000
271. c.3364A>T p.T1122Smissense 1Likely Pathogenic (1)0.000000
272. c.3288delG frameshift 1Pathogenic (1)0.000000
273. c.1678delG p.Asp560ThrfsX19frameshift 1Pathogenic (1)0.000000
274. c.799C>G p.L267Vmissense 1VUS (1)0.000080
275. c.3792_3793del p.Cys1264*frameshift 1Likely Pathogenic (1)0.000000
276. c.1112C>T p.P371Lmissense 1VUS (1)0.000028
277. c.533delT p.Val178GlyfsX7frameshift 1Pathogenic (1)0.000000
278. c.2953A>G p.K985Emissense 1Pathogenic (1)0.000000
279. c.2524_2525insT p.Tyr842LeufsX42frameshift 1Pathogenic (1)0.000000
280. c.1156G>T p.E386Xnonsense 1Pathogenic (1)0.000000
281. c.333_334insT p.E112Xnonsense 1Pathogenic (1)0.000000
282. c.3297dup p.Tyr1100Valfs*49frameshift 1Pathogenic (1)0.000000
283. c.2149_2737del p.Leu717Alafs*11frameshift 1Pathogenic (1)0.000000
284. c.2906-2A>G essential splice site 1Pathogenic (1)0.000000
285. c.3614G>C p.R1205Pmissense 1Likely Pathogenic (1)0.000000
286. c.2054_2067+11del p.Lys685Argfs*3frameshift 1Pathogenic (1)0.000000
287. c.2748G>A p.W916Xnonsense 1Pathogenic (1)0.000000
288. c.2610_2611insC p.Ser871GlnfsX13frameshift 1Pathogenic (1)0.000000
289. c.2381C>A p.P794Qmissense 1VUS (1)0.000000
290. c.1628delA frameshift 1Pathogenic (1)0.000000
291. c.1523_1525delinsT p.Gln508Leufs*22frameshift 1Pathogenic (1)0.000000
292. c.3065G>A p.R1022Hmissense 1VUS favour pathogenic (1)0.000000
293. c.2603-1G>C essential splice site 1Pathogenic (1)0.000000
294. c.3281A>T p.N1094Imissense 1VUS (1)0.000000
295. c.1404del p.Gln469Serfs*19frameshift 1Pathogenic (1)0.000000
296. c.1778C>T p.S593Fmissense 1VUS favour pathogenic (1)0.000034
297. c.1021_1028del p.Gly341*frameshift 1Pathogenic (1)0.000000
298. c.1418T>C p.F473Smissense 1VUS (1)0.000000
299. c.1731G>C p.W577Cmissense 1VUS (1)0.000000
300. c.853G>A p.D285Nmissense 1VUS (1)0.000000
301. c.1223+2T>C essential splice site 1Pathogenic (1)0.000000
302. c.3694A>T p.K1232Xnonsense 1Pathogenic (1)0.000000
303. c.2518G>A p.V840Mmissense 1VUS (1)0.000016
304. c.351_352del p.Gly118Argfs*8frameshift 1Pathogenic (1)0.000000
305. c.3413G>C p.R1138Pmissense 1VUS (1)0.000000
306. c.1672G>A p.A558Tmissense 1VUS (1)0.000008
307. c.3490+1G>A essential splice site 1Pathogenic (1)0.000000
308. c.655-2del essential splice site 1Pathogenic (1)0.000000
309. c.2312T>C p.V771Amissense 1VUS (1)0.000000
310. c.121dup p.Arg41Profs*8frameshift 1Pathogenic (1)0.000000
311. c.1090+2T>C essential splice site 1Pathogenic (1)0.000000
312. c.1471G>A p.V491Mmissense 1VUS (1)0.000058
313. c.3083C>G p.T1028Smissense 1VUS (1)0.000000
314. c.3415G>A p.V1139Imissense 1VUS (1)0.000087
315. c.1898-1G>A essential splice site 1Pathogenic (1)0.000000
316. c.2304_2308+2delCATCGGT essential splice site 1Pathogenic (1)0.000000
317. c.2723A>G p.Y908Cmissense 1VUS (1)0.000062
318. c.*26+2T>C essential splice site 1Likely Pathogenic (1)0.000000
319. c.1699_1700delGA p.Glu567GlyfsX4frameshift 1Pathogenic (1)0.000000
320. c.1153G>A p.V385Mmissense 1VUS (1)0.000010
321. c.1693A>T p.K565Xnonsense 1Pathogenic (1)0.000000
322. c.1685C>T p.A562Vmissense 1VUS (1)0.000008
323. c.1000G>T p.E334Xnonsense 1Pathogenic (1)0.000000
324. c.3166_3167insG p.Ala1056GlyfsX9frameshift 1Pathogenic (1)0.000000
325. c.3330+1G>C essential splice site 1Pathogenic (1)0.000000
326. c.1591G>C p.G531Rmissense 1VUS favour pathogenic (1)0.000017
327. c.1575T>G p.Y525Xnonsense 1Pathogenic (1)0.000000
328. c.2747G>A p.W916Xnonsense 1Pathogenic (1)0.000000
329. c.3739G>A p.D1247Nmissense 1VUS (1)0.000000
330. c.3043dup p.Ala1015Glyfs*36frameshift 1Pathogenic (1)0.000000
331. c.2394_2395insT p.Gly799TrpfsX34frameshift 1Pathogenic (1)0.000000
332. c.148A>G p.S50Gmissense 1VUS (1)0.000038
333. c.2163delC p.Glu722ArgfsX32frameshift 1Pathogenic (1)0.000000
334. c.2429_2503delins23 p.Arg810Profs*10frameshift 1Pathogenic (1)0.000000
335. c.1224-2A>G essential splice site 1Pathogenic (1)0.000000
336. c.3476_3479dupTTAT p.Pro1161TyrfsX9frameshift 1Pathogenic (1)0.000000
337. c.3206C>A p.P1069Hmissense 1Likely Pathogenic (1)0.000000
338. c.2533C>T p.R845Cmissense 1VUS favour pathogenic (1)0.000000
339. c.2690_2696del p.Gly897Glufs*25frameshift 1Pathogenic (1)0.000000
340. c.3735delC frameshift 1Likely Pathogenic (1)0.000000
341. c.2965G>T p.E989Xnonsense 1Pathogenic (1)0.000000
342. c.2188del p.Thr730Profs*24frameshift 1Pathogenic (1)0.000000
343. c.2807dup p.Ala938Glyfs*113frameshift 1Pathogenic (1)0.000000
344. c.1231A>G p.I411Vmissense 1VUS (1)0.000000
345. c.431_432delGT p.Gly144AlafsX8frameshift 1Pathogenic (1)0.000000
346. c.2247C>A p.Y749Xnonsense 1Pathogenic (1)0.000000
347. c.2525A>G p.Y842Cmissense 1VUS (1)0.000000
348. c.1455A>T p.K485Nmissense 1VUS (1)0.000000
349. c.2013_2016delinsGG p.Pro672AspfsX20frameshift 1Pathogenic (1)0.000000
350. c.1797del p.His599Glnfs*3frameshift 1Pathogenic (1)0.000000
351. c.731del p.Lys244Argfs*56frameshift 1Pathogenic (1)0.000000
352. c.2436G>T p.K812Nmissense 1VUS (1)0.000000
353. c.177dup p.Glu60Argfs*53frameshift 1Pathogenic (1)0.000000
354. c.1120C>T p.Q374Xnonsense 1Pathogenic (1)0.000000
355. c.1960C>T p.R654Cmissense 1VUS favour benign (1)0.000008
356. c.391dup p.Ala131Glyfs*22frameshift 1Pathogenic (1)0.000000
357. c.932C>T p.S311Lmissense 1VUS (1)0.000000
358. c.566T>A p.V189Dmissense 1VUS (1)0.000000
359. c.1352_1353del p.Glu451Alafs*23frameshift 1Pathogenic (1)0.000000
360. c.1397T>A p.M466Kmissense 1VUS (1)0.000008
361. c.2198G>A p.R733Hmissense 1VUS (1)0.000034
362. c.3316G>A p.D1106Nmissense 1VUS (1)0.000061
363. c.2503C>T p.R835Cmissense 1VUS (1)0.000024
364. c.1A>T p.Met1?missense 1Likely Pathogenic (1)0.000000
365. c.2308+1G>T essential splice site 1Pathogenic (1)0.000000
366. c.2828G>A p.R943Qmissense 1VUS (1)0.000025
367. c.241G>T p.V81Fmissense 1VUS (1)0.000000
368. c.1624+2T>C essential splice site 1Pathogenic (1)0.000000
369. c.104G>A p.R35Qmissense 1VUS (1)0.000079
370. c.2833_2834delCG frameshift 1Pathogenic (1)0.000000
371. c.3825A>G p.X1275TrpextX77nonsense 1Likely Pathogenic (1)0.000000
372. c.994G>A p.E332Kmissense 1VUS (1)0.000009
373. c.1168delC frameshift 1Pathogenic (1)0.000000
374. c.451G>A p.D151Nmissense 1VUS (1)0.000041
375. c.2265C>A p.N755Kmissense 1Pathogenic (1)0.000000
376. c.1303C>T p.Q435Xnonsense 1Pathogenic (1)0.000000
377. c.187C>T p.R63Wmissense 1VUS (1)0.000077
378. c.3357C>A p.Y1119Xnonsense 1Pathogenic (1)0.000000
379. c.743_746delACTG frameshift 1Pathogenic (1)0.000000
380. c.1458-1G>A essential splice site 1Pathogenic (1)0.000000
381. c.2718_2719dup p.Glu907Glyfs*18frameshift 1Pathogenic (1)0.000000
382. c.1343T>C p.F448Smissense 1Likely Pathogenic (1)0.000000
383. c.1924C>T p.Q642Xnonsense 1Pathogenic (1)0.000000
384. c.551_552insT p.Lys185GlufsX56frameshift 1Pathogenic (1)0.000000
385. c.2541C>A p.Y847Xnonsense 1Pathogenic (1)0.000000
386. c.3331-1G>A essential splice site 1Pathogenic (1)0.000000
387. c.1586C>G p.T529Smissense 1VUS favour pathogenic (1)0.000000
388. c.1458G>A p.W486Xnonsense 1Pathogenic (1)0.000000
389. c.3548T>G p.F1183Cmissense 1Likely Pathogenic (1)0.000000
390. c.2584C>T p.Q862Xnonsense 1Pathogenic (1)0.000000
391. c.966G>A p.W322Xnonsense 1Pathogenic (1)0.000000
392. c.2065C>T p.Q689Xnonsense 1Pathogenic (1)0.000000
393. c.1505G>T p.R502Lmissense 1VUS favour pathogenic (1)0.000000
394. c.2371C>T p.Q791Xnonsense 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.