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.2827C>T p.R943Xnonsense 18Pathogenic (11)Pathogenic (7)0.000017
10. c.3226_3227insT frameshift 18Pathogenic (12)Pathogenic (6)0.000000
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.2308G>A p.D770Nmissense 11Likely Pathogenic (5)Likely Pathogenic (6)0.000008
16. c.3330+2T>G essential splice site 11Pathogenic (11)0.000000
17. c.442G>A p.G148Rmissense 11Likely Pathogenic (4)VUS favour pathogenic (7)0.000042
18. c.927-2A>G essential splice site 10Pathogenic (8)Pathogenic (2)0.000000
19. c.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.1505G>A p.R502Qmissense 8Pathogenic (2)Pathogenic (6)0.000000
25. c.3627+1G>A essential splice site 8Pathogenic (6)Pathogenic (2)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.3065G>C p.R1022Pmissense 6Likely Pathogenic (5)VUS favour pathogenic (1)0.000025
31. c.710A>C p.Y237Smissense 6Likely Pathogenic (3)Likely Pathogenic (3)0.000000
32. c.2573G>A p.S858Nmissense 6Likely Pathogenic (2)VUS favour pathogenic (4)0.000000
33. c.2905C>T p.Q969Xnonsense 5Pathogenic (2)Pathogenic (3)0.000000
34. c.821+1G>A essential splice site 5Pathogenic (1)Pathogenic (4)0.000043
35. c.2374T>C p.W792Rmissense 5Likely Pathogenic (5)0.000000
36. c.913_914delTT frameshift 5Pathogenic (5)0.000000
37. c.3064C>T p.R1022Cmissense 5VUS (1)VUS favour pathogenic (4)0.000008
38. c.1828G>A p.D610Nmissense 5VUS (2)VUS (3)0.000000
39. c.2556_2557delinsTCT p.Gly853fsframeshift 5Pathogenic (4)Pathogenic (1)0.000000
40. c.821+2T>C essential splice site 5Pathogenic (4)Pathogenic (1)0.000000
41. c.2610delC frameshift 5Pathogenic (5)0.000000
42. c.2267delC frameshift 5Pathogenic (5)0.000000
43. c.3286G>T p.E1096Xnonsense 4Pathogenic (3)Pathogenic (1)0.000000
44. c.26-2A>G essential splice site 4Pathogenic (4)0.000051
45. c.1591G>A p.G531Rmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000017
46. c.1483C>T p.R495Wmissense 4Likely Pathogenic (2)VUS favour pathogenic (2)0.000000
47. c.2454G>A p.W818Xnonsense 4Pathogenic (4)0.000000
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.3181C>T p.Q1061Xnonsense 4Pathogenic (3)Pathogenic (1)0.000016
51. c.2873C>T p.T958Imissense 4VUS (1)VUS favour benign (3)0.000065
52. c.2210C>T p.T737Mmissense 4VUS (3)VUS (1)0.000050
53. c.3277G>T p.G1093Cmissense 4VUS (3)VUS (1)0.000020
54. c.3742_3759dup p.Gly1248_Cys1253dupinframe 4Likely Pathogenic (4)0.000000
55. c.2182G>T p.E728Xnonsense 4Pathogenic (4)0.000000
56. c.3163A>T p.K1055Xnonsense 4Pathogenic (4)0.000000
57. c.3798C>G p.C1266Wmissense 4VUS (4)0.000000
58. c.484C>T p.Q162Xnonsense 4Pathogenic (4)0.000000
59. c.2308+1G>A essential splice site 3Pathogenic (2)Pathogenic (1)0.000000
60. c.3190+1G>A essential splice site 3Pathogenic (3)0.000000
61. c.2558delG frameshift 3Pathogenic (1)Pathogenic (2)0.000000
62. c.532G>A p.V178Mmissense 3VUS (1)VUS favour pathogenic (2)0.000020
63. c.1790G>A p.R597Qmissense 3VUS (1)VUS favour pathogenic (2)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.3624delC frameshift 3Pathogenic (1)Pathogenic (2)0.000000
67. c.2450G>A p.R817Qmissense 3VUS favour pathogenic (3)0.000016
68. c.1828G>C p.D610Hmissense 3VUS (1)VUS favour benign (2)0.000058
69. c.772+1G>A essential splice site 3Pathogenic (1)Pathogenic (2)0.000000
70. c.177_187del p.Glu60AlafsX49frameshift 3Pathogenic (2)Pathogenic (1)0.000000
71. c.2311_2312insG p.Val771GlyfsX62frameshift 3Pathogenic (3)0.000000
72. c.2920C>T p.Q974Xnonsense 3Pathogenic (3)0.000000
73. c.3491-2A>T essential splice site 3Pathogenic (3)0.000000
74. c.3767_3769delCCA p.Thr1256delinframe 3Likely Pathogenic (3)0.000000
75. c.833delG p.Gly278GlufsX22frameshift 3Pathogenic (2)Pathogenic (1)0.000000
76. c.1037G>A p.R346Hmissense 3VUS (1)VUS (2)0.000000
77. c.355G>A p.E119Kmissense 3VUS (3)0.000000
78. c.1720C>T p.R574Wmissense 3VUS (3)0.000054
79. c.1123G>A p.V375Mmissense 3VUS (3)0.000009
80. c.3129C>A p.Y1043Xnonsense 3Pathogenic (3)0.000000
81. c.2545del p.Val849Serfs*30frameshift 3Pathogenic (3)0.000000
82. c.2309-1G>A essential splice site 3Pathogenic (3)0.000000
83. c.3373G>A p.V1125Mmissense 2VUS (1)VUS favour pathogenic (1)0.000022
84. c.2534_2538delGCGTC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
85. c.844C>T p.R282Wmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
86. c.1273C>T p.Q425Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
87. c.1357_1358delCC frameshift 2Pathogenic (2)0.000000
88. c.1038_1042dupCGGCA frameshift 2Pathogenic (1)Pathogenic (1)0.000008
89. c.1513_1515delAAG inframe 2VUS favour pathogenic (2)0.000000
90. c.932C>A p.S311Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
91. c.3811C>T p.R1271Xnonsense 2VUS (1)Pathogenic (1)0.000025
92. c.636C>G p.S212Rmissense 2VUS favour pathogenic (2)0.000000
93. c.1456T>G p.W486Gmissense 2VUS (1)Likely Pathogenic (1)0.000000
94. c.1090+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
95. c.1090+1G>T essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
96. c.1210C>T p.Q404Xnonsense 2Pathogenic (2)0.000000
97. c.1213A>G p.M405Vmissense 2VUS (1)Pathogenic (1)0.000000
98. c.1351+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
99. c.1869C>A p.C623Xnonsense 2Pathogenic (2)0.000000
100. c.2943_2947delGACCA frameshift 2Pathogenic (2)0.000000
101. c.459delC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
102. c.1021G>A p.G341Smissense 2VUS (1)VUS favour pathogenic (1)0.000025
103. c.2882C>T p.P961Lmissense 2VUS (2)0.000048
104. c.2197C>T p.R733Cmissense 2Likely Pathogenic (1)VUS (1)0.000085
105. c.1766G>A p.R589Hmissense 2VUS (2)0.000000
106. c.814C>T p.R272Cmissense 2VUS (2)0.000083
107. c.2269G>A p.V757Mmissense 2VUS (1)VUS (1)0.000066
108. c.2320G>A p.A774Tmissense 2VUS (2)0.000000
109. c.3676C>T p.R1226Cmissense 2VUS (1)VUS (1)0.000058
110. c.373G>T p.A125Smissense 2VUS (1)VUS (1)0.000000
111. c.3192_3193insC p.Lys1065GlnfsX12frameshift 2Pathogenic (2)0.000000
112. c.1863delC p.Phe621LeufsX42frameshift 2Pathogenic (2)0.000000
113. c.1895delT p.Met632ArgfsX31frameshift 2Pathogenic (2)0.000000
114. c.1897+1G>A essential splice site 2Pathogenic (2)0.000000
115. c.1999_2000delinsG p.Leu667AspfsX15frameshift 2Pathogenic (1)Pathogenic (1)0.000000
116. c.2953A>T p.K985Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
117. c.3253G>T p.E1085Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
118. c.3624_3625insC p.Lys1209GlnfsX33frameshift 2Pathogenic (2)0.000000
119. c.999C>G p.Y333Xnonsense 2Pathogenic (2)0.000000
120. c.1841A>G p.Y614Cmissense 2VUS (1)VUS favour pathogenic (1)0.000000
121. c.436_437insA p.Thr146AsnfsX7frameshift 2Pathogenic (2)0.000000
122. c.1934C>T p.P645Lmissense 2VUS (2)0.000000
123. c.2449C>T p.R817Wmissense 2VUS (1)VUS (1)0.000000
124. c.3627+1G>T essential splice site 2Pathogenic (2)0.000000
125. c.3582_3593delGGGCTACACTGC inframe 2Likely Pathogenic (1)0.000000
126. c.3470C>T p.P1157Lmissense 2VUS (2)0.000093
127. c.3005G>A p.R1002Qmissense 2VUS (2)0.000046
128. c.2526C>G p.Y842Xnonsense 2Pathogenic (2)0.000000
129. c.2432A>G p.K811Rmissense 2VUS (2)0.000000
130. c.2300A>G p.K767Rmissense 2VUS (2)0.000016
131. c.818G>A p.R273Hmissense 2VUS (2)0.000042
132. c.557C>T p.P186Lmissense 2VUS (2)0.000047
133. c.3752A>G p.Y1251Cmissense 2VUS (2)0.000000
134. c.3751T>C p.Y1251Hmissense 2VUS (2)0.000000
135. c.3455_3466del p.Ala1152_Lys1155delinframe 2Likely Pathogenic (2)0.000000
136. c.3271del p.Asp1091Metfs*98frameshift 2Pathogenic (2)0.000000
137. c.2905+2dup essential splice site 2Likely Pathogenic (2)0.000000
138. c.2524dup p.Tyr842Leufs*42frameshift 2Pathogenic (2)0.000000
139. c.2219G>C p.G740Amissense 2VUS (2)0.000000
140. c.1886T>C p.L629Pmissense 2VUS (2)0.000000
141. c.747C>A p.C249Xnonsense 2Pathogenic (2)0.000000
142. c.443dup p.Ala149Serfs*4frameshift 2Pathogenic (2)0.000000
143. c.126G>A p.W42Xnonsense 2Pathogenic (2)0.000000
144. c.25+1G>A essential splice site 2Pathogenic (2)0.000000
145. c.2833_2834delCG frameshift 1Pathogenic (1)0.000000
146. c.2308+1G>T essential splice site 1Pathogenic (1)0.000000
147. c.1168delC frameshift 1Pathogenic (1)0.000000
148. c.1800delA frameshift 1Pathogenic (1)0.000000
149. c.2048G>A p.W683Xnonsense 1Pathogenic (1)0.000000
150. c.1624+2T>C essential splice site 1Pathogenic (1)0.000000
151. c.1693A>T p.K565Xnonsense 1Pathogenic (1)0.000000
152. c.2993A>G p.Q998Rmissense 1VUS favour pathogenic (1)0.000000
153. c.3288delG frameshift 1Pathogenic (1)0.000000
154. c.1591G>C p.G531Rmissense 1VUS favour pathogenic (1)0.000017
155. c.3776delA frameshift 1Pathogenic (1)0.000000
156. c.655-1G>A essential splice site 1Pathogenic (1)0.000000
157. c.1575T>G p.Y525Xnonsense 1Pathogenic (1)0.000000
158. c.1343T>C p.F448Smissense 1Likely Pathogenic (1)0.000000
159. c.2671C>T p.R891Wmissense 1Likely Pathogenic (1)0.000031
160. c.3735delC frameshift 1Likely Pathogenic (1)0.000000
161. c.3797G>A p.C1266Ymissense 1Likely Pathogenic (1)0.000000
162. c.1156G>T p.E386Xnonsense 1Pathogenic (1)0.000000
163. c.1224-2A>G essential splice site 1Pathogenic (1)0.000000
164. c.1628delA frameshift 1Pathogenic (1)0.000000
165. c.1892delT frameshift 1Pathogenic (1)0.000000
166. c.1924C>T p.Q642Xnonsense 1Pathogenic (1)0.000000
167. c.2780_2781delCA frameshift 1Pathogenic (1)0.000000
168. c.3335G>A p.W1112Xnonsense 1Pathogenic (1)0.000000
169. c.3476_3477delTT frameshift 1Pathogenic (1)0.000000
170. c.3753T>G p.Y1251Xnonsense 1Pathogenic (1)0.000000
171. c.1778C>T p.S593Fmissense 1VUS favour pathogenic (1)0.000034
172. c.223G>A p.D75Nmissense 1VUS favour pathogenic (1)0.000091
173. c.481C>A p.P161Tmissense 1VUS favour pathogenic (1)0.000041
174. c.1960C>T p.R654Cmissense 1VUS favour benign (1)0.000008
175. c.2641G>A p.V881Imissense 1VUS (1)0.000018
176. c.3580G>A p.A1194Tmissense 1VUS (1)0.000008
177. c.2312T>C p.V771Amissense 1VUS (1)0.000000
178. c.2234A>G p.D745Gmissense 1VUS (1)0.000000
179. c.3742G>A p.G1248Rmissense 1VUS (1)0.000033
180. c.932C>T p.S311Lmissense 1VUS (1)0.000000
181. c.713G>A p.R238Hmissense 1VUS (1)0.000074
182. c.103C>T p.R35Wmissense 1VUS (1)0.000056
183. c.1358C>T p.P453Lmissense 1VUS (1)0.000008
184. c.1397T>A p.M466Kmissense 1VUS (1)0.000008
185. c.1540A>G p.I514Vmissense 1VUS (1)0.000008
186. c.1672G>A p.A558Tmissense 1VUS (1)0.000008
187. c.2170C>T p.R724Wmissense 1VUS (1)0.000019
188. c.2518G>A p.V840Mmissense 1VUS (1)0.000016
189. c.2560A>G p.M854Vmissense 1VUS (1)0.000000
190. c.2654C>T p.T885Mmissense 1VUS (1)0.000022
191. c.2828G>A p.R943Qmissense 1VUS (1)0.000025
192. c.3049G>A p.E1017Kmissense 1VUS favour benign (1)0.000085
193. c.3083C>G p.T1028Smissense 1VUS (1)0.000000
194. c.3098G>A p.R1033Qmissense 1VUS (1)0.000000
195. c.3746G>T p.G1249Vmissense 1VUS (1)0.000000
196. c.3791G>A p.C1264Ymissense 1VUS (1)0.000008
197. c.451G>A p.D151Nmissense 1VUS (1)0.000041
198. c.2557G>A p.G853Smissense 1VUS (1)0.000008
199. c.2723A>G p.Y908Cmissense 1VUS (1)0.000062
200. c.2938C>T p.R980Cmissense 1VUS (1)0.000062
201. c.3415G>A p.V1139Imissense 1VUS (1)0.000087
202. c.104G>A p.R35Qmissense 1VUS (1)0.000079
203. c.1294G>A p.A432Tmissense 1VUS (1)0.000037
204. c.821+1G>C essential splice site 1Pathogenic (1)0.000000
205. c.2905+1G>C essential splice site 1Pathogenic (1)0.000000
206. c.2737+1G>C essential splice site 1Pathogenic (1)0.000000
207. c.1699_1700delGA p.Glu567GlyfsX4frameshift 1Pathogenic (1)0.000000
208. c.3068_3069insA p.Asn1023LysfsX28frameshift 1Pathogenic (1)0.000000
209. c.1458-1G>A essential splice site 1Pathogenic (1)0.000000
210. c.3605G>A p.C1202Ymissense 1Likely Pathogenic (1)0.000000
211. c.3825A>G p.X1275TrpextX77nonsense 1Likely Pathogenic (1)0.000000
212. c.3G>C p.Met1?missense 1Likely Pathogenic (1)0.000000
213. c.1000G>T p.E334Xnonsense 1Pathogenic (1)0.000000
214. c.1351+2T>C essential splice site 1Pathogenic (1)0.000000
215. c.1678delG p.Asp560ThrfsX19frameshift 1Pathogenic (1)0.000000
216. c.2113_2114insA p.Thr705AsnfsX3frameshift 1Pathogenic (1)0.000000
217. c.2149-1G>A essential splice site 1Pathogenic (1)0.000000
218. c.2394_2395insT p.Gly799TrpfsX34frameshift 1Pathogenic (1)0.000000
219. c.2437A>T p.K813Xnonsense 1Pathogenic (1)0.000000
220. c.2524_2525insT p.Tyr842LeufsX42frameshift 1Pathogenic (1)0.000000
221. c.2541C>A p.Y847Xnonsense 1Pathogenic (1)0.000000
222. c.2737+2T>A essential splice site 1Pathogenic (1)0.000000
223. c.2747G>A p.W916Xnonsense 1Pathogenic (1)0.000000
224. c.2875_2876delAC p.Thr959GlyfsX91frameshift 1Pathogenic (1)0.000000
225. c.2906-2A>G essential splice site 1Pathogenic (1)0.000000
226. c.2965G>T p.E989Xnonsense 1Pathogenic (1)0.000000
227. c.3040delC p.Leu1014TrpfsX6frameshift 1Pathogenic (1)0.000000
228. c.3166_3167insG p.Ala1056GlyfsX9frameshift 1Pathogenic (1)0.000000
229. c.333_334insT p.E112Xnonsense 1Pathogenic (1)0.000000
230. c.3331-1G>A essential splice site 1Pathogenic (1)0.000000
231. c.3332_3335dupAGTG p.W1112Xnonsense 1Pathogenic (1)0.000000
232. c.3476_3479dupTTAT p.Pro1161TyrfsX9frameshift 1Pathogenic (1)0.000000
233. c.3690_3691delCA p.Phe1230LeufsX11frameshift 1Pathogenic (1)0.000000
234. c.533delT p.Val178GlyfsX7frameshift 1Pathogenic (1)0.000000
235. c.551_552insT p.Lys185GlufsX56frameshift 1Pathogenic (1)0.000000
236. c.613C>T p.Q205Xnonsense 1Pathogenic (1)0.000000
237. c.993_994insT p.E332Xnonsense 1Pathogenic (1)0.000000
238. c.1505G>T p.R502Lmissense 1VUS favour pathogenic (1)0.000000
239. c.1535T>A p.L512Qmissense 1VUS favour pathogenic (1)0.000000
240. c.1586C>G p.T529Smissense 1VUS favour pathogenic (1)0.000000
241. c.2533C>T p.R845Cmissense 1VUS favour pathogenic (1)0.000000
242. c.290C>T p.A97Vmissense 1VUS favour pathogenic (1)0.000000
243. c.3065G>A p.R1022Hmissense 1VUS favour pathogenic (1)0.000000
244. c.3548T>G p.F1183Cmissense 1Likely Pathogenic (1)0.000000
245. c.2013_2016delinsGG p.Pro672AspfsX20frameshift 1Pathogenic (1)0.000000
246. c.2040_2041insT p.Val681CysfsX12frameshift 1Pathogenic (1)0.000000
247. c.2163delC p.Glu722ArgfsX32frameshift 1Pathogenic (1)0.000000
248. c.2528_2536delAGATGCGCG p.Glu843_Arg845delinframe 1Pathogenic (1)0.000000
249. c.2610_2611insC p.Ser871GlnfsX13frameshift 1Pathogenic (1)0.000000
250. c.3815-1G>A essential splice site 1Pathogenic (1)0.000000
251. c.431_432delGT p.Gly144AlafsX8frameshift 1Pathogenic (1)0.000000
252. c.506-1G>T essential splice site 1Pathogenic (1)0.000000
253. c.3694A>T p.K1232Xnonsense 1Pathogenic (1)0.000000
254. c.2517_2538del p.Val840ThrfsX32frameshift 1Pathogenic (1)0.000000
255. c.966G>A p.W322Xnonsense 1Pathogenic (1)0.000000
256. c.2939G>A p.R980Hmissense 1VUS (1)0.000000
257. c.1188G>T p.W396Cmissense 1VUS (1)0.000000
258. c.1418T>C p.F473Smissense 1VUS (1)0.000000
259. c.1950C>G p.D650Emissense 1VUS (1)0.000000
260. c.2436G>T p.K812Nmissense 1VUS (1)0.000000
261. c.2525A>G p.Y842Cmissense 1VUS (1)0.000000
262. c.326C>T p.A109Vmissense 1VUS (1)0.000000
263. c.3281A>T p.N1094Imissense 1VUS (1)0.000000
264. c.518C>A p.T173Nmissense 1VUS (1)0.000000
265. c.566T>A p.V189Dmissense 1VUS (1)0.000000
266. c.931T>A p.S311Tmissense 1VUS (1)0.000000
267. c.3413G>C p.R1138Pmissense 1VUS (1)0.000000
268. c.436A>C p.T146Pmissense 1VUS (1)0.000000
269. c.853G>A p.D285Nmissense 1VUS (1)0.000000
270. c.3713T>C p.L1238Pmissense 1Likely Pathogenic (1)0.000000
271. c.3656T>C p.L1219Pmissense 1VUS (1)0.000000
272. c.3617delG frameshift 1Pathogenic (1)0.000000
273. c.3614G>A p.R1205Qmissense 1VUS (1)0.000016
274. c.3605delG frameshift 1Pathogenic (1)0.000000
275. c.3572C>T p.S1191Lmissense 1VUS (1)0.000016
276. c.3490+1G>A essential splice site 1Pathogenic (1)0.000000
277. c.3452C>T p.A1151Vmissense 1VUS (1)0.000078
278. c.3316G>A p.D1106Nmissense 1VUS (1)0.000061
279. c.3257G>A p.W1086Xnonsense 1Pathogenic (1)0.000021
280. c.3019T>C p.W1007Rmissense 1VUS (1)0.000000
281. c.2995-1G>A essential splice site 1Pathogenic (1)0.000000
282. c.2909G>A p.R970Qmissense 1Likely Pathogenic (1)0.000032
283. c.2504G>T p.R835Lmissense 1Likely Pathogenic (1)0.000074
284. c.2503C>T p.R835Cmissense 1VUS (1)0.000024
285. c.2304_2308+2delCATCGGT essential splice site 1Pathogenic (1)0.000000
286. c.2265C>A p.N755Kmissense 1Pathogenic (1)0.000000
287. c.2249C>T p.T750Mmissense 1Likely Pathogenic (1)0.000024
288. c.2198G>A p.R733Hmissense 1VUS (1)0.000034
289. c.2030C>T p.P677Lmissense 1VUS (1)0.000000
290. c.1898-1G>A essential splice site 1Pathogenic (1)0.000000
291. c.1789C>T p.R597Wmissense 1VUS (1)0.000038
292. c.1685C>T p.A562Vmissense 1VUS (1)0.000008
293. c.1624+1G>A essential splice site 1Pathogenic (1)0.000000
294. c.1471G>A p.V491Mmissense 1VUS (1)0.000058
295. c.1433C>T p.S478Lmissense 1Likely Pathogenic (1)0.000017
296. c.1377delC frameshift 1Pathogenic (1)0.000000
297. c.1303C>T p.Q435Xnonsense 1Pathogenic (1)0.000000
298. c.1291G>A p.D431Nmissense 1VUS (1)0.000028
299. c.1153G>A p.V385Mmissense 1VUS (1)0.000010
300. c.1112C>T p.P371Lmissense 1VUS (1)0.000028
301. c.1072G>A p.D358Nmissense 1VUS (1)0.000008
302. c.1021G>C p.G341Rmissense 1VUS (1)0.000000
303. c.994G>A p.E332Kmissense 1VUS (1)0.000009
304. c.982delG frameshift 1Pathogenic (1)0.000000
305. c.811_817delTTCCGCC frameshift 1Pathogenic (1)0.000000
306. c.799C>G p.L267Vmissense 1VUS (1)0.000080
307. c.743_746delACTG frameshift 1Pathogenic (1)0.000000
308. c.711C>A p.Y237Xnonsense 1Pathogenic (1)0.000000
309. c.631G>A p.D211Nmissense 1VUS (1)0.000009
310. c.506-1G>A essential splice site 1Pathogenic (1)0.000000
311. c.188G>A p.R63Qmissense 1VUS (1)0.000039
312. c.187C>T p.R63Wmissense 1VUS (1)0.000077
313. c.146_148delTCA p.Ile49delinframe 1VUS (1)0.000039
314. c.148A>G p.S50Gmissense 1VUS (1)0.000038
315. c.49C>T p.R17Wmissense 1VUS (1)0.000023
316. c.*26+2T>C essential splice site 1Likely Pathogenic (1)0.000000
317. c.3792_3793del p.Cys1264*frameshift 1Likely Pathogenic (1)0.000000
318. c.3739G>A p.D1247Nmissense 1VUS (1)0.000000
319. c.3728C>G p.P1243Rmissense 1VUS (1)0.000000
320. c.3614G>C p.R1205Pmissense 1Likely Pathogenic (1)0.000000
321. c.3364A>T p.T1122Smissense 1Likely Pathogenic (1)0.000000
322. c.3357C>A p.Y1119Xnonsense 1Pathogenic (1)0.000000
323. c.3334_3351del p.Trp1112_Glu1117delinframe 1Likely Pathogenic (1)0.000000
324. c.3330+1G>C essential splice site 1Pathogenic (1)0.000000
325. c.3316del p.Asp1106Thrfs*83frameshift 1Pathogenic (1)0.000000
326. c.3297dup p.Tyr1100Valfs*49frameshift 1Pathogenic (1)0.000000
327. c.3256T>C p.W1086Rmissense 1VUS (1)0.000000
328. c.3206C>A p.P1069Hmissense 1Likely Pathogenic (1)0.000000
329. c.3043dup p.Ala1015Glyfs*36frameshift 1Pathogenic (1)0.000000
330. c.2968C>G p.P990Amissense 1Likely Pathogenic (1)0.000000
331. c.2953A>G p.K985Emissense 1Pathogenic (1)0.000000
332. c.2834G>A p.R945Qmissense 1VUS (1)0.000000
333. c.2807dup p.Ala938Glyfs*113frameshift 1Pathogenic (1)0.000000
334. c.2789del p.Leu930Argfs*2frameshift 1Pathogenic (1)0.000000
335. c.2748G>A p.W916Xnonsense 1Pathogenic (1)0.000000
336. c.2738-2A>G essential splice site 1Pathogenic (1)0.000000
337. c.2149_2737del p.Leu717Alafs*11frameshift 1Pathogenic (1)0.000000
338. c.2718_2719dup p.Glu907Glyfs*18frameshift 1Pathogenic (1)0.000000
339. c.2708G>A p.G903Dmissense 1Likely Pathogenic (1)0.000000
340. c.2690_2696del p.Gly897Glufs*25frameshift 1Pathogenic (1)0.000000
341. c.2603-2_2603-1delinsGA essential splice site 1Pathogenic (1)0.000000
342. c.2603-1G>C essential splice site 1Pathogenic (1)0.000000
343. c.2584C>T p.Q862Xnonsense 1Pathogenic (1)0.000000
344. c.2512dup p.Glu838Glyfs*46frameshift 1Pathogenic (1)0.000000
345. c.2429_2503delins23 p.Arg810Profs*10frameshift 1Pathogenic (1)0.000000
346. c.2502del p.Arg835Alafs*2frameshift 1Pathogenic (1)0.000000
347. c.2381C>A p.P794Qmissense 1VUS (1)0.000000
348. c.2371C>T p.Q791Xnonsense 1Pathogenic (1)0.000000
349. c.2247C>A p.Y749Xnonsense 1Pathogenic (1)0.000000
350. c.2188del p.Thr730Profs*24frameshift 1Pathogenic (1)0.000000
351. c.2161_2168del p.Thr721Profs*23frameshift 1Pathogenic (1)0.000000
352. c.2054_2067+11del p.Lys685Argfs*3frameshift 1Pathogenic (1)0.000000
353. c.2065C>T p.Q689Xnonsense 1Pathogenic (1)0.000000
354. c.1797del p.His599Glnfs*3frameshift 1Pathogenic (1)0.000000
355. c.1756C>G p.P586Amissense 1Likely Pathogenic (1)0.000000
356. c.1731G>C p.W577Cmissense 1VUS (1)0.000000
357. c.1569dup p.His524Alafs*7frameshift 1Pathogenic (1)0.000000
358. c.1523_1525delinsT p.Gln508Leufs*22frameshift 1Pathogenic (1)0.000000
359. c.1458G>A p.W486Xnonsense 1Pathogenic (1)0.000000
360. c.1457G>A p.W486Xnonsense 1Pathogenic (1)0.000000
361. c.1455A>T p.K485Nmissense 1VUS (1)0.000000
362. c.1405C>T p.Q469Xnonsense 1Pathogenic (1)0.000000
363. c.1404del p.Gln469Serfs*19frameshift 1Pathogenic (1)0.000000
364. c.1376_1377del p.Pro459Leufs*15frameshift 1Pathogenic (1)0.000000
365. c.1359del p.Val454Cysfs*12frameshift 1Pathogenic (1)0.000000
366. c.1352_1353del p.Glu451Alafs*23frameshift 1Pathogenic (1)0.000000
367. c.1266_1267insTGAT p.Ile423*frameshift 1Pathogenic (1)0.000000
368. c.1231A>G p.I411Vmissense 1VUS (1)0.000000
369. c.1224-1G>T essential splice site 1Pathogenic (1)0.000000
370. c.1223+2T>C essential splice site 1Pathogenic (1)0.000000
371. c.1201C>T p.Q401Xnonsense 1Pathogenic (1)0.000000
372. c.1174G>T p.A392Smissense 1VUS (1)0.000000
373. c.1120C>T p.Q374Xnonsense 1Pathogenic (1)0.000000
374. c.1097A>C p.Q366Pmissense 1VUS (1)0.000000
375. c.1090+2T>C essential splice site 1Pathogenic (1)0.000000
376. c.1080G>C p.K360Nmissense 1VUS (1)0.000000
377. c.1021_1028del p.Gly341*frameshift 1Pathogenic (1)0.000000
378. c.821+2T>G essential splice site 1Pathogenic (1)0.000000
379. c.731del p.Lys244Argfs*56frameshift 1Pathogenic (1)0.000000
380. c.701C>A p.T234Nmissense 1Likely Pathogenic (1)0.000000
381. c.655-2del essential splice site 1Pathogenic (1)0.000000
382. c.611_618delinsT p.Gly204Valfs*94frameshift 1Pathogenic (1)0.000000
383. c.553_562del p.Lys185Trpfs*12frameshift 1Pathogenic (1)0.000000
384. c.391dup p.Ala131Glyfs*22frameshift 1Pathogenic (1)0.000000
385. c.365C>A p.A122Dmissense 1VUS (1)0.000000
386. c.351_352del p.Gly118Argfs*8frameshift 1Pathogenic (1)0.000000
387. c.256_258del p.Ser86delinframe 1VUS (1)0.000000
388. c.255del p.Ser86Profs*10frameshift 1Pathogenic (1)0.000000
389. c.241G>T p.V81Fmissense 1VUS (1)0.000000
390. c.211_212delinsTA p.Val71*frameshift 1Pathogenic (1)0.000000
391. c.177dup p.Glu60Argfs*53frameshift 1Pathogenic (1)0.000000
392. c.121dup p.Arg41Profs*8frameshift 1Pathogenic (1)0.000000
393. c.100_110dup p.Val38Serfs*5frameshift 1Pathogenic (1)0.000000
394. c.1A>T p.Met1?missense 1Likely Pathogenic (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.