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.2864_2865delCT frameshift 14Pathogenic (8)Pathogenic (6)0.000000
12. c.1484G>A p.R495Qmissense 14Likely Pathogenic (4)VUS favour pathogenic (10)0.000008
13. c.1483C>G p.R495Gmissense 14Likely Pathogenic (10)Likely Pathogenic (4)0.000000
14. c.3697C>T p.Q1233Xnonsense 13Likely Pathogenic (4)Pathogenic (9)0.000008
15. c.2308G>A p.D770Nmissense 11Likely Pathogenic (5)Likely Pathogenic (6)0.000008
16. c.442G>A p.G148Rmissense 11Likely Pathogenic (4)VUS favour pathogenic (7)0.000042
17. c.3330+2T>G essential splice site 11Pathogenic (11)0.000000
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.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.1505G>A p.R502Qmissense 8Pathogenic (2)Pathogenic (6)0.000000
25. c.2490_2491insT p.His831SerfsTer2frameshift 8Pathogenic (7)Pathogenic (1)0.000024
26. c.3627+1G>A essential splice site 8Pathogenic (6)Pathogenic (2)0.000000
27. c.2905+1G>A essential splice site 7Pathogenic (3)Pathogenic (4)0.000000
28. c.2670G>A p.W890Xnonsense 7Pathogenic (7)0.000000
29. c.3065G>C p.R1022Pmissense 6Likely Pathogenic (5)VUS favour pathogenic (1)0.000025
30. c.2573G>A p.S858Nmissense 6Likely Pathogenic (2)VUS favour pathogenic (4)0.000000
31. c.2459G>A p.R820Qmissense 6VUS (5)Likely Pathogenic (1)0.000016
32. c.710A>C p.Y237Smissense 6Likely Pathogenic (3)Likely Pathogenic (3)0.000000
33. c.2610delC frameshift 5Pathogenic (5)0.000000
34. c.913_914delTT frameshift 5Pathogenic (5)0.000000
35. c.821+2T>C essential splice site 5Pathogenic (4)Pathogenic (1)0.000000
36. c.821+1G>A essential splice site 5Pathogenic (1)Pathogenic (4)0.000043
37. c.2374T>C p.W792Rmissense 5Likely Pathogenic (5)0.000000
38. c.3064C>T p.R1022Cmissense 5VUS (1)VUS favour pathogenic (4)0.000008
39. c.2905C>T p.Q969Xnonsense 5Pathogenic (2)Pathogenic (3)0.000000
40. c.1828G>A p.D610Nmissense 5VUS (2)VUS (3)0.000000
41. c.2267delC frameshift 5Pathogenic (5)0.000000
42. c.2556_2557delinsTCT p.Gly853fsframeshift 5Pathogenic (4)Pathogenic (1)0.000000
43. c.2210C>T p.T737Mmissense 4VUS (3)VUS (1)0.000050
44. c.3408C>A p.Y1136Xnonsense 4Pathogenic (3)Pathogenic (1)0.000000
45. c.3763G>A p.A1255Tmissense 4VUS (3)VUS favour pathogenic (1)0.000075
46. c.3163A>T p.K1055Xnonsense 4Pathogenic (4)0.000000
47. c.2182G>T p.E728Xnonsense 4Pathogenic (4)0.000000
48. c.484C>T p.Q162Xnonsense 4Pathogenic (4)0.000000
49. c.3181C>T p.Q1061Xnonsense 4Pathogenic (3)Pathogenic (1)0.000016
50. c.3798C>G p.C1266Wmissense 4VUS (4)0.000000
51. c.26-2A>G essential splice site 4Pathogenic (4)0.000051
52. c.2873C>T p.T958Imissense 4VUS (1)VUS favour benign (3)0.000065
53. c.3742_3759dup p.Gly1248_Cys1253dupinframe 4Likely Pathogenic (4)0.000000
54. c.1591G>A p.G531Rmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000017
55. c.2454G>A p.W818Xnonsense 4Pathogenic (4)0.000000
56. c.3286G>T p.E1096Xnonsense 4Pathogenic (3)Pathogenic (1)0.000000
57. c.3277G>T p.G1093Cmissense 4VUS (3)VUS (1)0.000020
58. c.1483C>T p.R495Wmissense 4Likely Pathogenic (2)VUS favour pathogenic (2)0.000000
59. c.3190+1G>A essential splice site 3Pathogenic (3)0.000000
60. c.2558delG frameshift 3Pathogenic (1)Pathogenic (2)0.000000
61. c.1037G>A p.R346Hmissense 3VUS (1)VUS (2)0.000000
62. c.3233G>A p.W1078Xnonsense 3Pathogenic (3)0.000022
63. c.772+1G>A essential splice site 3Pathogenic (1)Pathogenic (2)0.000000
64. c.177_187del p.Glu60AlafsX49frameshift 3Pathogenic (2)Pathogenic (1)0.000000
65. c.532G>A p.V178Mmissense 3VUS (1)VUS favour pathogenic (2)0.000020
66. c.2920C>T p.Q974Xnonsense 3Pathogenic (3)0.000000
67. c.3624delC frameshift 3Pathogenic (1)Pathogenic (2)0.000000
68. c.355G>A p.E119Kmissense 3VUS (3)0.000000
69. c.1123G>A p.V375Mmissense 3VUS (3)0.000009
70. c.3491-2A>T essential splice site 3Pathogenic (3)0.000000
71. c.1828G>C p.D610Hmissense 3VUS (1)VUS favour benign (2)0.000058
72. c.2308+1G>A essential splice site 3Pathogenic (2)Pathogenic (1)0.000000
73. c.1720C>T p.R574Wmissense 3VUS (3)0.000054
74. c.3129C>A p.Y1043Xnonsense 3Pathogenic (3)0.000000
75. c.2311_2312insG p.Val771GlyfsX62frameshift 3Pathogenic (3)0.000000
76. c.3767_3769delCCA p.Thr1256delinframe 3Likely Pathogenic (3)0.000000
77. c.2545del p.Val849Serfs*30frameshift 3Pathogenic (3)0.000000
78. c.2309-1G>A essential splice site 3Pathogenic (3)0.000000
79. c.1790G>A p.R597Qmissense 3VUS (1)VUS favour pathogenic (2)0.000000
80. c.833delG p.Gly278GlufsX22frameshift 3Pathogenic (2)Pathogenic (1)0.000000
81. c.2450G>A p.R817Qmissense 3VUS favour pathogenic (3)0.000016
82. c.3600_3609delCTGCTGTGCT frameshift 3Pathogenic (3)Pathogenic (0)0.000000
83. c.3627+1G>T essential splice site 2Pathogenic (2)0.000000
84. c.3005G>A p.R1002Qmissense 2VUS (2)0.000046
85. c.373G>T p.A125Smissense 2VUS (1)VUS (1)0.000000
86. c.1999_2000delinsG p.Leu667AspfsX15frameshift 2Pathogenic (1)Pathogenic (1)0.000000
87. c.557C>T p.P186Lmissense 2VUS (2)0.000047
88. c.818G>A p.R273Hmissense 2VUS (2)0.000042
89. c.844C>T p.R282Wmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
90. c.1038_1042dupCGGCA frameshift 2Pathogenic (1)Pathogenic (1)0.000008
91. c.1895delT p.Met632ArgfsX31frameshift 2Pathogenic (2)0.000000
92. c.459delC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
93. c.2882C>T p.P961Lmissense 2VUS (2)0.000048
94. c.2269G>A p.V757Mmissense 2VUS (1)VUS (1)0.000066
95. c.3582_3593delGGGCTACACTGC inframe 2Likely Pathogenic (1)0.000000
96. c.2197C>T p.R733Cmissense 2Likely Pathogenic (1)VUS (1)0.000085
97. c.3752A>G p.Y1251Cmissense 2VUS (2)0.000000
98. c.2905+2dup essential splice site 2Likely Pathogenic (2)0.000000
99. c.2524dup p.Tyr842Leufs*42frameshift 2Pathogenic (2)0.000000
100. c.1210C>T p.Q404Xnonsense 2Pathogenic (2)0.000000
101. c.3271del p.Asp1091Metfs*98frameshift 2Pathogenic (2)0.000000
102. c.932C>A p.S311Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
103. c.3455_3466del p.Ala1152_Lys1155delinframe 2Likely Pathogenic (2)0.000000
104. c.436_437insA p.Thr146AsnfsX7frameshift 2Pathogenic (2)0.000000
105. c.1869C>A p.C623Xnonsense 2Pathogenic (2)0.000000
106. c.814C>T p.R272Cmissense 2VUS (2)0.000083
107. c.1934C>T p.P645Lmissense 2VUS (2)0.000000
108. c.3470C>T p.P1157Lmissense 2VUS (2)0.000093
109. c.2526C>G p.Y842Xnonsense 2Pathogenic (2)0.000000
110. c.2320G>A p.A774Tmissense 2VUS (2)0.000000
111. c.2300A>G p.K767Rmissense 2VUS (2)0.000016
112. c.1513_1515delAAG inframe 2VUS favour pathogenic (2)0.000000
113. c.1273C>T p.Q425Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
114. c.1090+1G>T essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
115. c.3253G>T p.E1085Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
116. c.1897+1G>A essential splice site 2Pathogenic (2)0.000000
117. c.1456T>G p.W486Gmissense 2VUS (1)Likely Pathogenic (1)0.000000
118. c.636C>G p.S212Rmissense 2VUS favour pathogenic (2)0.000000
119. c.1351+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
120. c.2219G>C p.G740Amissense 2VUS (2)0.000000
121. c.1021G>A p.G341Smissense 2VUS (1)VUS favour pathogenic (1)0.000025
122. c.126G>A p.W42Xnonsense 2Pathogenic (2)0.000000
123. c.3676C>T p.R1226Cmissense 2VUS (1)VUS (1)0.000058
124. c.2432A>G p.K811Rmissense 2VUS (2)0.000000
125. c.1357_1358delCC frameshift 2Pathogenic (2)0.000000
126. c.3751T>C p.Y1251Hmissense 2VUS (2)0.000000
127. c.3811C>T p.R1271Xnonsense 2VUS (1)Pathogenic (1)0.000025
128. c.1863delC p.Phe621LeufsX42frameshift 2Pathogenic (2)0.000000
129. c.1841A>G p.Y614Cmissense 2VUS (1)VUS favour pathogenic (1)0.000000
130. c.2953A>T p.K985Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
131. c.1213A>G p.M405Vmissense 2VUS (1)Pathogenic (1)0.000000
132. c.2449C>T p.R817Wmissense 2VUS (1)VUS (1)0.000000
133. c.1886T>C p.L629Pmissense 2VUS (2)0.000000
134. c.443dup p.Ala149Serfs*4frameshift 2Pathogenic (2)0.000000
135. c.747C>A p.C249Xnonsense 2Pathogenic (2)0.000000
136. c.25+1G>A essential splice site 2Pathogenic (2)0.000000
137. c.3373G>A p.V1125Mmissense 2VUS (1)VUS favour pathogenic (1)0.000022
138. c.2534_2538delGCGTC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
139. c.3192_3193insC p.Lys1065GlnfsX12frameshift 2Pathogenic (2)0.000000
140. c.2943_2947delGACCA frameshift 2Pathogenic (2)0.000000
141. c.999C>G p.Y333Xnonsense 2Pathogenic (2)0.000000
142. c.3624_3625insC p.Lys1209GlnfsX33frameshift 2Pathogenic (2)0.000000
143. c.1090+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
144. c.1766G>A p.R589Hmissense 2VUS (2)0.000000
145. c.3413G>C p.R1138Pmissense 1VUS (1)0.000000
146. c.1672G>A p.A558Tmissense 1VUS (1)0.000008
147. c.3490+1G>A essential splice site 1Pathogenic (1)0.000000
148. c.655-2del essential splice site 1Pathogenic (1)0.000000
149. c.2312T>C p.V771Amissense 1VUS (1)0.000000
150. c.121dup p.Arg41Profs*8frameshift 1Pathogenic (1)0.000000
151. c.1090+2T>C essential splice site 1Pathogenic (1)0.000000
152. c.2518G>A p.V840Mmissense 1VUS (1)0.000016
153. c.351_352del p.Gly118Argfs*8frameshift 1Pathogenic (1)0.000000
154. c.1471G>A p.V491Mmissense 1VUS (1)0.000058
155. c.3083C>G p.T1028Smissense 1VUS (1)0.000000
156. c.3415G>A p.V1139Imissense 1VUS (1)0.000087
157. c.1898-1G>A essential splice site 1Pathogenic (1)0.000000
158. c.2304_2308+2delCATCGGT essential splice site 1Pathogenic (1)0.000000
159. c.*26+2T>C essential splice site 1Likely Pathogenic (1)0.000000
160. c.1699_1700delGA p.Glu567GlyfsX4frameshift 1Pathogenic (1)0.000000
161. c.1153G>A p.V385Mmissense 1VUS (1)0.000010
162. c.1693A>T p.K565Xnonsense 1Pathogenic (1)0.000000
163. c.1685C>T p.A562Vmissense 1VUS (1)0.000008
164. c.1000G>T p.E334Xnonsense 1Pathogenic (1)0.000000
165. c.2723A>G p.Y908Cmissense 1VUS (1)0.000062
166. c.1575T>G p.Y525Xnonsense 1Pathogenic (1)0.000000
167. c.2747G>A p.W916Xnonsense 1Pathogenic (1)0.000000
168. c.3739G>A p.D1247Nmissense 1VUS (1)0.000000
169. c.3043dup p.Ala1015Glyfs*36frameshift 1Pathogenic (1)0.000000
170. c.2394_2395insT p.Gly799TrpfsX34frameshift 1Pathogenic (1)0.000000
171. c.148A>G p.S50Gmissense 1VUS (1)0.000038
172. c.3166_3167insG p.Ala1056GlyfsX9frameshift 1Pathogenic (1)0.000000
173. c.3330+1G>C essential splice site 1Pathogenic (1)0.000000
174. c.1591G>C p.G531Rmissense 1VUS favour pathogenic (1)0.000017
175. c.2429_2503delins23 p.Arg810Profs*10frameshift 1Pathogenic (1)0.000000
176. c.1224-2A>G essential splice site 1Pathogenic (1)0.000000
177. c.3476_3479dupTTAT p.Pro1161TyrfsX9frameshift 1Pathogenic (1)0.000000
178. c.3206C>A p.P1069Hmissense 1Likely Pathogenic (1)0.000000
179. c.2533C>T p.R845Cmissense 1VUS favour pathogenic (1)0.000000
180. c.2690_2696del p.Gly897Glufs*25frameshift 1Pathogenic (1)0.000000
181. c.3735delC frameshift 1Likely Pathogenic (1)0.000000
182. c.2965G>T p.E989Xnonsense 1Pathogenic (1)0.000000
183. c.2188del p.Thr730Profs*24frameshift 1Pathogenic (1)0.000000
184. c.2807dup p.Ala938Glyfs*113frameshift 1Pathogenic (1)0.000000
185. c.2163delC p.Glu722ArgfsX32frameshift 1Pathogenic (1)0.000000
186. c.1231A>G p.I411Vmissense 1VUS (1)0.000000
187. c.431_432delGT p.Gly144AlafsX8frameshift 1Pathogenic (1)0.000000
188. c.2247C>A p.Y749Xnonsense 1Pathogenic (1)0.000000
189. c.2525A>G p.Y842Cmissense 1VUS (1)0.000000
190. c.1455A>T p.K485Nmissense 1VUS (1)0.000000
191. c.2013_2016delinsGG p.Pro672AspfsX20frameshift 1Pathogenic (1)0.000000
192. c.1797del p.His599Glnfs*3frameshift 1Pathogenic (1)0.000000
193. c.177dup p.Glu60Argfs*53frameshift 1Pathogenic (1)0.000000
194. c.1120C>T p.Q374Xnonsense 1Pathogenic (1)0.000000
195. c.1960C>T p.R654Cmissense 1VUS favour benign (1)0.000008
196. c.391dup p.Ala131Glyfs*22frameshift 1Pathogenic (1)0.000000
197. c.932C>T p.S311Lmissense 1VUS (1)0.000000
198. c.566T>A p.V189Dmissense 1VUS (1)0.000000
199. c.1352_1353del p.Glu451Alafs*23frameshift 1Pathogenic (1)0.000000
200. c.1397T>A p.M466Kmissense 1VUS (1)0.000008
201. c.731del p.Lys244Argfs*56frameshift 1Pathogenic (1)0.000000
202. c.2436G>T p.K812Nmissense 1VUS (1)0.000000
203. c.3316G>A p.D1106Nmissense 1VUS (1)0.000061
204. c.2503C>T p.R835Cmissense 1VUS (1)0.000024
205. c.1A>T p.Met1?missense 1Likely Pathogenic (1)0.000000
206. c.2308+1G>T essential splice site 1Pathogenic (1)0.000000
207. c.2828G>A p.R943Qmissense 1VUS (1)0.000025
208. c.241G>T p.V81Fmissense 1VUS (1)0.000000
209. c.2198G>A p.R733Hmissense 1VUS (1)0.000034
210. c.1624+2T>C essential splice site 1Pathogenic (1)0.000000
211. c.104G>A p.R35Qmissense 1VUS (1)0.000079
212. c.2833_2834delCG frameshift 1Pathogenic (1)0.000000
213. c.3825A>G p.X1275TrpextX77nonsense 1Likely Pathogenic (1)0.000000
214. c.994G>A p.E332Kmissense 1VUS (1)0.000009
215. c.1168delC frameshift 1Pathogenic (1)0.000000
216. c.451G>A p.D151Nmissense 1VUS (1)0.000041
217. c.2265C>A p.N755Kmissense 1Pathogenic (1)0.000000
218. c.1303C>T p.Q435Xnonsense 1Pathogenic (1)0.000000
219. c.187C>T p.R63Wmissense 1VUS (1)0.000077
220. c.3357C>A p.Y1119Xnonsense 1Pathogenic (1)0.000000
221. c.743_746delACTG frameshift 1Pathogenic (1)0.000000
222. c.1458-1G>A essential splice site 1Pathogenic (1)0.000000
223. c.1924C>T p.Q642Xnonsense 1Pathogenic (1)0.000000
224. c.551_552insT p.Lys185GlufsX56frameshift 1Pathogenic (1)0.000000
225. c.2541C>A p.Y847Xnonsense 1Pathogenic (1)0.000000
226. c.3331-1G>A essential splice site 1Pathogenic (1)0.000000
227. c.1586C>G p.T529Smissense 1VUS favour pathogenic (1)0.000000
228. c.2718_2719dup p.Glu907Glyfs*18frameshift 1Pathogenic (1)0.000000
229. c.1343T>C p.F448Smissense 1Likely Pathogenic (1)0.000000
230. c.3548T>G p.F1183Cmissense 1Likely Pathogenic (1)0.000000
231. c.2584C>T p.Q862Xnonsense 1Pathogenic (1)0.000000
232. c.966G>A p.W322Xnonsense 1Pathogenic (1)0.000000
233. c.2065C>T p.Q689Xnonsense 1Pathogenic (1)0.000000
234. c.1505G>T p.R502Lmissense 1VUS favour pathogenic (1)0.000000
235. c.2371C>T p.Q791Xnonsense 1Pathogenic (1)0.000000
236. c.1458G>A p.W486Xnonsense 1Pathogenic (1)0.000000
237. c.1376_1377del p.Pro459Leufs*15frameshift 1Pathogenic (1)0.000000
238. c.223G>A p.D75Nmissense 1VUS favour pathogenic (1)0.000091
239. c.821+2T>G essential splice site 1Pathogenic (1)0.000000
240. c.1569dup p.His524Alafs*7frameshift 1Pathogenic (1)0.000000
241. c.1201C>T p.Q401Xnonsense 1Pathogenic (1)0.000000
242. c.2517_2538del p.Val840ThrfsX32frameshift 1Pathogenic (1)0.000000
243. c.2560A>G p.M854Vmissense 1VUS (1)0.000000
244. c.2995-1G>A essential splice site 1Pathogenic (1)0.000000
245. c.256_258del p.Ser86delinframe 1VUS (1)0.000000
246. c.611_618delinsT p.Gly204Valfs*94frameshift 1Pathogenic (1)0.000000
247. c.100_110dup p.Val38Serfs*5frameshift 1Pathogenic (1)0.000000
248. c.713G>A p.R238Hmissense 1VUS (1)0.000074
249. c.3617delG frameshift 1Pathogenic (1)0.000000
250. c.2905+1G>C essential splice site 1Pathogenic (1)0.000000
251. c.1433C>T p.S478Lmissense 1Likely Pathogenic (1)0.000017
252. c.3098G>A p.R1033Qmissense 1VUS (1)0.000000
253. c.1800delA frameshift 1Pathogenic (1)0.000000
254. c.1072G>A p.D358Nmissense 1VUS (1)0.000008
255. c.3746G>T p.G1249Vmissense 1VUS (1)0.000000
256. c.1351+2T>C essential splice site 1Pathogenic (1)0.000000
257. c.811_817delTTCCGCC frameshift 1Pathogenic (1)0.000000
258. c.3068_3069insA p.Asn1023LysfsX28frameshift 1Pathogenic (1)0.000000
259. c.2113_2114insA p.Thr705AsnfsX3frameshift 1Pathogenic (1)0.000000
260. c.506-1G>A essential splice site 1Pathogenic (1)0.000000
261. c.3316del p.Asp1106Thrfs*83frameshift 1Pathogenic (1)0.000000
262. c.2738-2A>G essential splice site 1Pathogenic (1)0.000000
263. c.2875_2876delAC p.Thr959GlyfsX91frameshift 1Pathogenic (1)0.000000
264. c.3728C>G p.P1243Rmissense 1VUS (1)0.000000
265. c.3690_3691delCA p.Phe1230LeufsX11frameshift 1Pathogenic (1)0.000000
266. c.2968C>G p.P990Amissense 1Likely Pathogenic (1)0.000000
267. c.2437A>T p.K813Xnonsense 1Pathogenic (1)0.000000
268. c.49C>T p.R17Wmissense 1VUS (1)0.000023
269. c.2528_2536delAGATGCGCG p.Glu843_Arg845delinframe 1Pathogenic (1)0.000000
270. c.2502del p.Arg835Alafs*2frameshift 1Pathogenic (1)0.000000
271. c.3476_3477delTT frameshift 1Pathogenic (1)0.000000
272. c.290C>T p.A97Vmissense 1VUS favour pathogenic (1)0.000000
273. c.2603-2_2603-1delinsGA essential splice site 1Pathogenic (1)0.000000
274. c.3797G>A p.C1266Ymissense 1Likely Pathogenic (1)0.000000
275. c.2161_2168del p.Thr721Profs*23frameshift 1Pathogenic (1)0.000000
276. c.2780_2781delCA frameshift 1Pathogenic (1)0.000000
277. c.993_994insT p.E332Xnonsense 1Pathogenic (1)0.000000
278. c.2789del p.Leu930Argfs*2frameshift 1Pathogenic (1)0.000000
279. c.1188G>T p.W396Cmissense 1VUS (1)0.000000
280. c.1756C>G p.P586Amissense 1Likely Pathogenic (1)0.000000
281. c.3335G>A p.W1112Xnonsense 1Pathogenic (1)0.000000
282. c.436A>C p.T146Pmissense 1VUS (1)0.000000
283. c.1224-1G>T essential splice site 1Pathogenic (1)0.000000
284. c.481C>A p.P161Tmissense 1VUS favour pathogenic (1)0.000041
285. c.506-1G>T essential splice site 1Pathogenic (1)0.000000
286. c.2234A>G p.D745Gmissense 1VUS (1)0.000000
287. c.326C>T p.A109Vmissense 1VUS (1)0.000000
288. c.1405C>T p.Q469Xnonsense 1Pathogenic (1)0.000000
289. c.2040_2041insT p.Val681CysfsX12frameshift 1Pathogenic (1)0.000000
290. c.1080G>C p.K360Nmissense 1VUS (1)0.000000
291. c.3580G>A p.A1194Tmissense 1VUS (1)0.000008
292. c.1540A>G p.I514Vmissense 1VUS (1)0.000008
293. c.3572C>T p.S1191Lmissense 1VUS (1)0.000016
294. c.701C>A p.T234Nmissense 1Likely Pathogenic (1)0.000000
295. c.3656T>C p.L1219Pmissense 1VUS (1)0.000000
296. c.1097A>C p.Q366Pmissense 1VUS (1)0.000000
297. c.3019T>C p.W1007Rmissense 1VUS (1)0.000000
298. c.365C>A p.A122Dmissense 1VUS (1)0.000000
299. c.931T>A p.S311Tmissense 1VUS (1)0.000000
300. c.2938C>T p.R980Cmissense 1VUS (1)0.000062
301. c.2030C>T p.P677Lmissense 1VUS (1)0.000000
302. c.2170C>T p.R724Wmissense 1VUS (1)0.000019
303. c.3257G>A p.W1086Xnonsense 1Pathogenic (1)0.000021
304. c.1358C>T p.P453Lmissense 1VUS (1)0.000008
305. c.1624+1G>A essential splice site 1Pathogenic (1)0.000000
306. c.3049G>A p.E1017Kmissense 1VUS favour benign (1)0.000085
307. c.2909G>A p.R970Qmissense 1Likely Pathogenic (1)0.000032
308. c.211_212delinsTA p.Val71*frameshift 1Pathogenic (1)0.000000
309. c.631G>A p.D211Nmissense 1VUS (1)0.000009
310. c.1294G>A p.A432Tmissense 1VUS (1)0.000037
311. c.3G>C p.Met1?missense 1Likely Pathogenic (1)0.000000
312. c.982delG frameshift 1Pathogenic (1)0.000000
313. c.2557G>A p.G853Smissense 1VUS (1)0.000008
314. c.1291G>A p.D431Nmissense 1VUS (1)0.000028
315. c.2737+2T>A essential splice site 1Pathogenic (1)0.000000
316. c.2993A>G p.Q998Rmissense 1VUS favour pathogenic (1)0.000000
317. c.3605G>A p.C1202Ymissense 1Likely Pathogenic (1)0.000000
318. c.146_148delTCA p.Ile49delinframe 1VUS (1)0.000039
319. c.3040delC p.Leu1014TrpfsX6frameshift 1Pathogenic (1)0.000000
320. c.3334_3351del p.Trp1112_Glu1117delinframe 1Likely Pathogenic (1)0.000000
321. c.711C>A p.Y237Xnonsense 1Pathogenic (1)0.000000
322. c.655-1G>A essential splice site 1Pathogenic (1)0.000000
323. c.2708G>A p.G903Dmissense 1Likely Pathogenic (1)0.000000
324. c.2671C>T p.R891Wmissense 1Likely Pathogenic (1)0.000031
325. c.613C>T p.Q205Xnonsense 1Pathogenic (1)0.000000
326. c.2834G>A p.R945Qmissense 1VUS (1)0.000000
327. c.3776delA frameshift 1Pathogenic (1)0.000000
328. c.2512dup p.Glu838Glyfs*46frameshift 1Pathogenic (1)0.000000
329. c.3332_3335dupAGTG p.W1112Xnonsense 1Pathogenic (1)0.000000
330. c.3256T>C p.W1086Rmissense 1VUS (1)0.000000
331. c.1457G>A p.W486Xnonsense 1Pathogenic (1)0.000000
332. c.3753T>G p.Y1251Xnonsense 1Pathogenic (1)0.000000
333. c.2641G>A p.V881Imissense 1VUS (1)0.000018
334. c.2939G>A p.R980Hmissense 1VUS (1)0.000000
335. c.1535T>A p.L512Qmissense 1VUS favour pathogenic (1)0.000000
336. c.1266_1267insTGAT p.Ile423*frameshift 1Pathogenic (1)0.000000
337. c.3815-1G>A essential splice site 1Pathogenic (1)0.000000
338. c.1892delT frameshift 1Pathogenic (1)0.000000
339. c.1174G>T p.A392Smissense 1VUS (1)0.000000
340. c.3742G>A p.G1248Rmissense 1VUS (1)0.000033
341. c.518C>A p.T173Nmissense 1VUS (1)0.000000
342. c.1359del p.Val454Cysfs*12frameshift 1Pathogenic (1)0.000000
343. c.3605delG frameshift 1Pathogenic (1)0.000000
344. c.1950C>G p.D650Emissense 1VUS (1)0.000000
345. c.3713T>C p.L1238Pmissense 1Likely Pathogenic (1)0.000000
346. c.2504G>T p.R835Lmissense 1Likely Pathogenic (1)0.000074
347. c.103C>T p.R35Wmissense 1VUS (1)0.000056
348. c.3614G>A p.R1205Qmissense 1VUS (1)0.000016
349. c.2654C>T p.T885Mmissense 1VUS (1)0.000022
350. c.255del p.Ser86Profs*10frameshift 1Pathogenic (1)0.000000
351. c.2249C>T p.T750Mmissense 1Likely Pathogenic (1)0.000024
352. c.3452C>T p.A1151Vmissense 1VUS (1)0.000078
353. c.553_562del p.Lys185Trpfs*12frameshift 1Pathogenic (1)0.000000
354. c.1021G>C p.G341Rmissense 1VUS (1)0.000000
355. c.3791G>A p.C1264Ymissense 1VUS (1)0.000008
356. c.2737+1G>C essential splice site 1Pathogenic (1)0.000000
357. c.1377delC frameshift 1Pathogenic (1)0.000000
358. c.2048G>A p.W683Xnonsense 1Pathogenic (1)0.000000
359. c.1789C>T p.R597Wmissense 1VUS (1)0.000038
360. c.3364A>T p.T1122Smissense 1Likely Pathogenic (1)0.000000
361. c.3288delG frameshift 1Pathogenic (1)0.000000
362. c.1678delG p.Asp560ThrfsX19frameshift 1Pathogenic (1)0.000000
363. c.799C>G p.L267Vmissense 1VUS (1)0.000080
364. c.3792_3793del p.Cys1264*frameshift 1Likely Pathogenic (1)0.000000
365. c.1112C>T p.P371Lmissense 1VUS (1)0.000028
366. c.2149-1G>A essential splice site 1Pathogenic (1)0.000000
367. c.188G>A p.R63Qmissense 1VUS (1)0.000039
368. c.821+1G>C essential splice site 1Pathogenic (1)0.000000
369. c.2953A>G p.K985Emissense 1Pathogenic (1)0.000000
370. c.2524_2525insT p.Tyr842LeufsX42frameshift 1Pathogenic (1)0.000000
371. c.1156G>T p.E386Xnonsense 1Pathogenic (1)0.000000
372. c.333_334insT p.E112Xnonsense 1Pathogenic (1)0.000000
373. c.3297dup p.Tyr1100Valfs*49frameshift 1Pathogenic (1)0.000000
374. c.2149_2737del p.Leu717Alafs*11frameshift 1Pathogenic (1)0.000000
375. c.2906-2A>G essential splice site 1Pathogenic (1)0.000000
376. c.3614G>C p.R1205Pmissense 1Likely Pathogenic (1)0.000000
377. c.533delT p.Val178GlyfsX7frameshift 1Pathogenic (1)0.000000
378. c.2054_2067+11del p.Lys685Argfs*3frameshift 1Pathogenic (1)0.000000
379. c.2748G>A p.W916Xnonsense 1Pathogenic (1)0.000000
380. c.2610_2611insC p.Ser871GlnfsX13frameshift 1Pathogenic (1)0.000000
381. c.2381C>A p.P794Qmissense 1VUS (1)0.000000
382. c.1628delA frameshift 1Pathogenic (1)0.000000
383. c.1523_1525delinsT p.Gln508Leufs*22frameshift 1Pathogenic (1)0.000000
384. c.3065G>A p.R1022Hmissense 1VUS favour pathogenic (1)0.000000
385. c.2603-1G>C essential splice site 1Pathogenic (1)0.000000
386. c.1021_1028del p.Gly341*frameshift 1Pathogenic (1)0.000000
387. c.1418T>C p.F473Smissense 1VUS (1)0.000000
388. c.1731G>C p.W577Cmissense 1VUS (1)0.000000
389. c.853G>A p.D285Nmissense 1VUS (1)0.000000
390. c.1223+2T>C essential splice site 1Pathogenic (1)0.000000
391. c.3694A>T p.K1232Xnonsense 1Pathogenic (1)0.000000
392. c.3281A>T p.N1094Imissense 1VUS (1)0.000000
393. c.1404del p.Gln469Serfs*19frameshift 1Pathogenic (1)0.000000
394. c.1778C>T p.S593Fmissense 1VUS favour pathogenic (1)0.000034

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.