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.1483C>G p.R495Gmissense 14Likely Pathogenic (10)Likely Pathogenic (4)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.2604_2605delinsA p.S871fsframeshift 10Pathogenic (8)Pathogenic (2)0.000000
19. c.3613C>T p.R1205Wmissense 10Likely Pathogenic (10)0.000016
20. c.927-2A>G essential splice site 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.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.2670G>A p.W890Xnonsense 7Pathogenic (7)0.000000
28. c.2905+1G>A essential splice site 7Pathogenic (3)Pathogenic (4)0.000000
29. c.710A>C p.Y237Smissense 6Likely Pathogenic (3)Likely Pathogenic (3)0.000000
30. c.3065G>C p.R1022Pmissense 6Likely Pathogenic (5)VUS favour pathogenic (1)0.000025
31. c.2573G>A p.S858Nmissense 6Likely Pathogenic (2)VUS favour pathogenic (4)0.000000
32. c.2459G>A p.R820Qmissense 6VUS (5)Likely Pathogenic (1)0.000016
33. c.2610delC frameshift 5Pathogenic (5)0.000000
34. c.821+1G>A essential splice site 5Pathogenic (1)Pathogenic (4)0.000043
35. c.821+2T>C essential splice site 5Pathogenic (4)Pathogenic (1)0.000000
36. c.913_914delTT frameshift 5Pathogenic (5)0.000000
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.1828G>A p.D610Nmissense 5VUS (2)VUS (3)0.000000
40. c.2905C>T p.Q969Xnonsense 5Pathogenic (2)Pathogenic (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.1591G>A p.G531Rmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000017
44. c.2210C>T p.T737Mmissense 4VUS (3)VUS (1)0.000050
45. c.3408C>A p.Y1136Xnonsense 4Pathogenic (3)Pathogenic (1)0.000000
46. c.3763G>A p.A1255Tmissense 4VUS (3)VUS favour pathogenic (1)0.000075
47. c.3163A>T p.K1055Xnonsense 4Pathogenic (4)0.000000
48. c.1483C>T p.R495Wmissense 4Likely Pathogenic (2)VUS favour pathogenic (2)0.000000
49. c.3286G>T p.E1096Xnonsense 4Pathogenic (3)Pathogenic (1)0.000000
50. c.2182G>T p.E728Xnonsense 4Pathogenic (4)0.000000
51. c.3181C>T p.Q1061Xnonsense 4Pathogenic (3)Pathogenic (1)0.000016
52. c.484C>T p.Q162Xnonsense 4Pathogenic (4)0.000000
53. c.3798C>G p.C1266Wmissense 4VUS (4)0.000000
54. c.26-2A>G essential splice site 4Pathogenic (4)0.000051
55. c.2873C>T p.T958Imissense 4VUS (1)VUS favour benign (3)0.000065
56. c.3742_3759dup p.Gly1248_Cys1253dupinframe 4Likely Pathogenic (4)0.000000
57. c.2454G>A p.W818Xnonsense 4Pathogenic (4)0.000000
58. c.3277G>T p.G1093Cmissense 4VUS (3)VUS (1)0.000020
59. c.3600_3609delCTGCTGTGCT frameshift 3Pathogenic (3)Pathogenic (0)0.000000
60. c.833delG p.Gly278GlufsX22frameshift 3Pathogenic (2)Pathogenic (1)0.000000
61. c.2450G>A p.R817Qmissense 3VUS favour pathogenic (3)0.000016
62. c.1037G>A p.R346Hmissense 3VUS (1)VUS (2)0.000000
63. c.3233G>A p.W1078Xnonsense 3Pathogenic (3)0.000022
64. c.2558delG frameshift 3Pathogenic (1)Pathogenic (2)0.000000
65. c.1790G>A p.R597Qmissense 3VUS (1)VUS favour pathogenic (2)0.000000
66. c.3190+1G>A essential splice site 3Pathogenic (3)0.000000
67. c.772+1G>A essential splice site 3Pathogenic (1)Pathogenic (2)0.000000
68. c.177_187del p.Glu60AlafsX49frameshift 3Pathogenic (2)Pathogenic (1)0.000000
69. c.2920C>T p.Q974Xnonsense 3Pathogenic (3)0.000000
70. c.3624delC frameshift 3Pathogenic (1)Pathogenic (2)0.000000
71. c.355G>A p.E119Kmissense 3VUS (3)0.000000
72. c.1123G>A p.V375Mmissense 3VUS (3)0.000009
73. c.3491-2A>T essential splice site 3Pathogenic (3)0.000000
74. c.1828G>C p.D610Hmissense 3VUS (1)VUS favour benign (2)0.000058
75. c.532G>A p.V178Mmissense 3VUS (1)VUS favour pathogenic (2)0.000020
76. c.1720C>T p.R574Wmissense 3VUS (3)0.000054
77. c.3129C>A p.Y1043Xnonsense 3Pathogenic (3)0.000000
78. c.2311_2312insG p.Val771GlyfsX62frameshift 3Pathogenic (3)0.000000
79. c.2309-1G>A essential splice site 3Pathogenic (3)0.000000
80. c.3767_3769delCCA p.Thr1256delinframe 3Likely Pathogenic (3)0.000000
81. c.2545del p.Val849Serfs*30frameshift 3Pathogenic (3)0.000000
82. c.2308+1G>A essential splice site 3Pathogenic (2)Pathogenic (1)0.000000
83. c.3624_3625insC p.Lys1209GlnfsX33frameshift 2Pathogenic (2)0.000000
84. c.999C>G p.Y333Xnonsense 2Pathogenic (2)0.000000
85. c.2943_2947delGACCA frameshift 2Pathogenic (2)0.000000
86. c.1766G>A p.R589Hmissense 2VUS (2)0.000000
87. c.3627+1G>T essential splice site 2Pathogenic (2)0.000000
88. c.3005G>A p.R1002Qmissense 2VUS (2)0.000046
89. c.3811C>T p.R1271Xnonsense 2VUS (1)Pathogenic (1)0.000025
90. c.3373G>A p.V1125Mmissense 2VUS (1)VUS favour pathogenic (1)0.000022
91. c.373G>T p.A125Smissense 2VUS (1)VUS (1)0.000000
92. c.2534_2538delGCGTC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
93. c.1999_2000delinsG p.Leu667AspfsX15frameshift 2Pathogenic (1)Pathogenic (1)0.000000
94. c.557C>T p.P186Lmissense 2VUS (2)0.000047
95. c.818G>A p.R273Hmissense 2VUS (2)0.000042
96. c.1895delT p.Met632ArgfsX31frameshift 2Pathogenic (2)0.000000
97. c.459delC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
98. c.2882C>T p.P961Lmissense 2VUS (2)0.000048
99. c.3582_3593delGGGCTACACTGC inframe 2Likely Pathogenic (1)0.000000
100. c.2197C>T p.R733Cmissense 2Likely Pathogenic (1)VUS (1)0.000085
101. c.2269G>A p.V757Mmissense 2VUS (1)VUS (1)0.000066
102. c.1038_1042dupCGGCA frameshift 2Pathogenic (1)Pathogenic (1)0.000008
103. c.1090+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
104. c.3752A>G p.Y1251Cmissense 2VUS (2)0.000000
105. c.2524dup p.Tyr842Leufs*42frameshift 2Pathogenic (2)0.000000
106. c.3271del p.Asp1091Metfs*98frameshift 2Pathogenic (2)0.000000
107. c.1210C>T p.Q404Xnonsense 2Pathogenic (2)0.000000
108. c.3455_3466del p.Ala1152_Lys1155delinframe 2Likely Pathogenic (2)0.000000
109. c.2905+2dup essential splice site 2Likely Pathogenic (2)0.000000
110. c.436_437insA p.Thr146AsnfsX7frameshift 2Pathogenic (2)0.000000
111. c.1869C>A p.C623Xnonsense 2Pathogenic (2)0.000000
112. c.1934C>T p.P645Lmissense 2VUS (2)0.000000
113. c.814C>T p.R272Cmissense 2VUS (2)0.000083
114. c.3470C>T p.P1157Lmissense 2VUS (2)0.000093
115. c.2526C>G p.Y842Xnonsense 2Pathogenic (2)0.000000
116. c.844C>T p.R282Wmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
117. c.2320G>A p.A774Tmissense 2VUS (2)0.000000
118. c.2300A>G p.K767Rmissense 2VUS (2)0.000016
119. c.3253G>T p.E1085Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
120. c.1897+1G>A essential splice site 2Pathogenic (2)0.000000
121. c.1090+1G>T essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
122. c.1351+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
123. c.1021G>A p.G341Smissense 2VUS (1)VUS favour pathogenic (1)0.000025
124. c.2219G>C p.G740Amissense 2VUS (2)0.000000
125. c.126G>A p.W42Xnonsense 2Pathogenic (2)0.000000
126. c.3676C>T p.R1226Cmissense 2VUS (1)VUS (1)0.000058
127. c.2432A>G p.K811Rmissense 2VUS (2)0.000000
128. c.932C>A p.S311Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
129. c.1357_1358delCC frameshift 2Pathogenic (2)0.000000
130. c.1863delC p.Phe621LeufsX42frameshift 2Pathogenic (2)0.000000
131. c.3751T>C p.Y1251Hmissense 2VUS (2)0.000000
132. c.1213A>G p.M405Vmissense 2VUS (1)Pathogenic (1)0.000000
133. c.1841A>G p.Y614Cmissense 2VUS (1)VUS favour pathogenic (1)0.000000
134. c.2953A>T p.K985Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
135. c.1886T>C p.L629Pmissense 2VUS (2)0.000000
136. c.2449C>T p.R817Wmissense 2VUS (1)VUS (1)0.000000
137. c.747C>A p.C249Xnonsense 2Pathogenic (2)0.000000
138. c.1513_1515delAAG inframe 2VUS favour pathogenic (2)0.000000
139. c.443dup p.Ala149Serfs*4frameshift 2Pathogenic (2)0.000000
140. c.1456T>G p.W486Gmissense 2VUS (1)Likely Pathogenic (1)0.000000
141. c.636C>G p.S212Rmissense 2VUS favour pathogenic (2)0.000000
142. c.25+1G>A essential splice site 2Pathogenic (2)0.000000
143. c.1273C>T p.Q425Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
144. c.3192_3193insC p.Lys1065GlnfsX12frameshift 2Pathogenic (2)0.000000
145. c.2610_2611insC p.Ser871GlnfsX13frameshift 1Pathogenic (1)0.000000
146. c.2381C>A p.P794Qmissense 1VUS (1)0.000000
147. c.1628delA frameshift 1Pathogenic (1)0.000000
148. c.1523_1525delinsT p.Gln508Leufs*22frameshift 1Pathogenic (1)0.000000
149. c.3065G>A p.R1022Hmissense 1VUS favour pathogenic (1)0.000000
150. c.2603-1G>C essential splice site 1Pathogenic (1)0.000000
151. c.2054_2067+11del p.Lys685Argfs*3frameshift 1Pathogenic (1)0.000000
152. c.2748G>A p.W916Xnonsense 1Pathogenic (1)0.000000
153. c.853G>A p.D285Nmissense 1VUS (1)0.000000
154. c.1223+2T>C essential splice site 1Pathogenic (1)0.000000
155. c.3694A>T p.K1232Xnonsense 1Pathogenic (1)0.000000
156. c.3281A>T p.N1094Imissense 1VUS (1)0.000000
157. c.1404del p.Gln469Serfs*19frameshift 1Pathogenic (1)0.000000
158. c.1778C>T p.S593Fmissense 1VUS favour pathogenic (1)0.000034
159. c.1021_1028del p.Gly341*frameshift 1Pathogenic (1)0.000000
160. c.1418T>C p.F473Smissense 1VUS (1)0.000000
161. c.1731G>C p.W577Cmissense 1VUS (1)0.000000
162. c.121dup p.Arg41Profs*8frameshift 1Pathogenic (1)0.000000
163. c.1090+2T>C essential splice site 1Pathogenic (1)0.000000
164. c.2518G>A p.V840Mmissense 1VUS (1)0.000016
165. c.351_352del p.Gly118Argfs*8frameshift 1Pathogenic (1)0.000000
166. c.655-1G>A essential splice site 1Pathogenic (1)0.000000
167. c.3413G>C p.R1138Pmissense 1VUS (1)0.000000
168. c.1672G>A p.A558Tmissense 1VUS (1)0.000008
169. c.3490+1G>A essential splice site 1Pathogenic (1)0.000000
170. c.655-2del essential splice site 1Pathogenic (1)0.000000
171. c.2312T>C p.V771Amissense 1VUS (1)0.000000
172. c.2304_2308+2delCATCGGT essential splice site 1Pathogenic (1)0.000000
173. c.1471G>A p.V491Mmissense 1VUS (1)0.000058
174. c.3083C>G p.T1028Smissense 1VUS (1)0.000000
175. c.2671C>T p.R891Wmissense 1Likely Pathogenic (1)0.000031
176. c.3776delA frameshift 1Pathogenic (1)0.000000
177. c.3415G>A p.V1139Imissense 1VUS (1)0.000087
178. c.1898-1G>A essential splice site 1Pathogenic (1)0.000000
179. c.1685C>T p.A562Vmissense 1VUS (1)0.000008
180. c.1000G>T p.E334Xnonsense 1Pathogenic (1)0.000000
181. c.2723A>G p.Y908Cmissense 1VUS (1)0.000062
182. c.1693A>T p.K565Xnonsense 1Pathogenic (1)0.000000
183. c.*26+2T>C essential splice site 1Likely Pathogenic (1)0.000000
184. c.1699_1700delGA p.Glu567GlyfsX4frameshift 1Pathogenic (1)0.000000
185. c.1153G>A p.V385Mmissense 1VUS (1)0.000010
186. c.3043dup p.Ala1015Glyfs*36frameshift 1Pathogenic (1)0.000000
187. c.2394_2395insT p.Gly799TrpfsX34frameshift 1Pathogenic (1)0.000000
188. c.148A>G p.S50Gmissense 1VUS (1)0.000038
189. c.3166_3167insG p.Ala1056GlyfsX9frameshift 1Pathogenic (1)0.000000
190. c.3330+1G>C essential splice site 1Pathogenic (1)0.000000
191. c.2747G>A p.W916Xnonsense 1Pathogenic (1)0.000000
192. c.3739G>A p.D1247Nmissense 1VUS (1)0.000000
193. c.2188del p.Thr730Profs*24frameshift 1Pathogenic (1)0.000000
194. c.2807dup p.Ala938Glyfs*113frameshift 1Pathogenic (1)0.000000
195. c.2163delC p.Glu722ArgfsX32frameshift 1Pathogenic (1)0.000000
196. c.2429_2503delins23 p.Arg810Profs*10frameshift 1Pathogenic (1)0.000000
197. c.3476_3479dupTTAT p.Pro1161TyrfsX9frameshift 1Pathogenic (1)0.000000
198. c.3206C>A p.P1069Hmissense 1Likely Pathogenic (1)0.000000
199. c.1224-2A>G essential splice site 1Pathogenic (1)0.000000
200. c.2533C>T p.R845Cmissense 1VUS favour pathogenic (1)0.000000
201. c.2690_2696del p.Gly897Glufs*25frameshift 1Pathogenic (1)0.000000
202. c.2965G>T p.E989Xnonsense 1Pathogenic (1)0.000000
203. c.1455A>T p.K485Nmissense 1VUS (1)0.000000
204. c.2013_2016delinsGG p.Pro672AspfsX20frameshift 1Pathogenic (1)0.000000
205. c.1797del p.His599Glnfs*3frameshift 1Pathogenic (1)0.000000
206. c.1231A>G p.I411Vmissense 1VUS (1)0.000000
207. c.431_432delGT p.Gly144AlafsX8frameshift 1Pathogenic (1)0.000000
208. c.2247C>A p.Y749Xnonsense 1Pathogenic (1)0.000000
209. c.2525A>G p.Y842Cmissense 1VUS (1)0.000000
210. c.391dup p.Ala131Glyfs*22frameshift 1Pathogenic (1)0.000000
211. c.932C>T p.S311Lmissense 1VUS (1)0.000000
212. c.566T>A p.V189Dmissense 1VUS (1)0.000000
213. c.1352_1353del p.Glu451Alafs*23frameshift 1Pathogenic (1)0.000000
214. c.1397T>A p.M466Kmissense 1VUS (1)0.000008
215. c.731del p.Lys244Argfs*56frameshift 1Pathogenic (1)0.000000
216. c.2436G>T p.K812Nmissense 1VUS (1)0.000000
217. c.177dup p.Glu60Argfs*53frameshift 1Pathogenic (1)0.000000
218. c.3288delG frameshift 1Pathogenic (1)0.000000
219. c.1120C>T p.Q374Xnonsense 1Pathogenic (1)0.000000
220. c.1960C>T p.R654Cmissense 1VUS favour benign (1)0.000008
221. c.2308+1G>T essential splice site 1Pathogenic (1)0.000000
222. c.2828G>A p.R943Qmissense 1VUS (1)0.000025
223. c.241G>T p.V81Fmissense 1VUS (1)0.000000
224. c.2198G>A p.R733Hmissense 1VUS (1)0.000034
225. c.3316G>A p.D1106Nmissense 1VUS (1)0.000061
226. c.2503C>T p.R835Cmissense 1VUS (1)0.000024
227. c.1A>T p.Met1?missense 1Likely Pathogenic (1)0.000000
228. c.2265C>A p.N755Kmissense 1Pathogenic (1)0.000000
229. c.1624+2T>C essential splice site 1Pathogenic (1)0.000000
230. c.1303C>T p.Q435Xnonsense 1Pathogenic (1)0.000000
231. c.104G>A p.R35Qmissense 1VUS (1)0.000079
232. c.3825A>G p.X1275TrpextX77nonsense 1Likely Pathogenic (1)0.000000
233. c.994G>A p.E332Kmissense 1VUS (1)0.000009
234. c.451G>A p.D151Nmissense 1VUS (1)0.000041
235. c.3357C>A p.Y1119Xnonsense 1Pathogenic (1)0.000000
236. c.743_746delACTG frameshift 1Pathogenic (1)0.000000
237. c.1458-1G>A essential splice site 1Pathogenic (1)0.000000
238. c.187C>T p.R63Wmissense 1VUS (1)0.000077
239. c.3331-1G>A essential splice site 1Pathogenic (1)0.000000
240. c.1586C>G p.T529Smissense 1VUS favour pathogenic (1)0.000000
241. c.2718_2719dup p.Glu907Glyfs*18frameshift 1Pathogenic (1)0.000000
242. c.551_552insT p.Lys185GlufsX56frameshift 1Pathogenic (1)0.000000
243. c.2541C>A p.Y847Xnonsense 1Pathogenic (1)0.000000
244. c.1924C>T p.Q642Xnonsense 1Pathogenic (1)0.000000
245. c.2371C>T p.Q791Xnonsense 1Pathogenic (1)0.000000
246. c.1458G>A p.W486Xnonsense 1Pathogenic (1)0.000000
247. c.3548T>G p.F1183Cmissense 1Likely Pathogenic (1)0.000000
248. c.2584C>T p.Q862Xnonsense 1Pathogenic (1)0.000000
249. c.966G>A p.W322Xnonsense 1Pathogenic (1)0.000000
250. c.2065C>T p.Q689Xnonsense 1Pathogenic (1)0.000000
251. c.1505G>T p.R502Lmissense 1VUS favour pathogenic (1)0.000000
252. c.821+2T>G essential splice site 1Pathogenic (1)0.000000
253. c.1569dup p.His524Alafs*7frameshift 1Pathogenic (1)0.000000
254. c.1201C>T p.Q401Xnonsense 1Pathogenic (1)0.000000
255. c.2517_2538del p.Val840ThrfsX32frameshift 1Pathogenic (1)0.000000
256. c.1376_1377del p.Pro459Leufs*15frameshift 1Pathogenic (1)0.000000
257. c.223G>A p.D75Nmissense 1VUS favour pathogenic (1)0.000091
258. c.611_618delinsT p.Gly204Valfs*94frameshift 1Pathogenic (1)0.000000
259. c.100_110dup p.Val38Serfs*5frameshift 1Pathogenic (1)0.000000
260. c.713G>A p.R238Hmissense 1VUS (1)0.000074
261. c.3617delG frameshift 1Pathogenic (1)0.000000
262. c.1591G>C p.G531Rmissense 1VUS favour pathogenic (1)0.000017
263. c.2560A>G p.M854Vmissense 1VUS (1)0.000000
264. c.2995-1G>A essential splice site 1Pathogenic (1)0.000000
265. c.256_258del p.Ser86delinframe 1VUS (1)0.000000
266. c.1575T>G p.Y525Xnonsense 1Pathogenic (1)0.000000
267. c.2833_2834delCG frameshift 1Pathogenic (1)0.000000
268. c.1072G>A p.D358Nmissense 1VUS (1)0.000008
269. c.3746G>T p.G1249Vmissense 1VUS (1)0.000000
270. c.1800delA frameshift 1Pathogenic (1)0.000000
271. c.2905+1G>C essential splice site 1Pathogenic (1)0.000000
272. c.1433C>T p.S478Lmissense 1Likely Pathogenic (1)0.000017
273. c.3098G>A p.R1033Qmissense 1VUS (1)0.000000
274. c.3735delC frameshift 1Likely Pathogenic (1)0.000000
275. c.2113_2114insA p.Thr705AsnfsX3frameshift 1Pathogenic (1)0.000000
276. c.506-1G>A essential splice site 1Pathogenic (1)0.000000
277. c.1351+2T>C essential splice site 1Pathogenic (1)0.000000
278. c.811_817delTTCCGCC frameshift 1Pathogenic (1)0.000000
279. c.3068_3069insA p.Asn1023LysfsX28frameshift 1Pathogenic (1)0.000000
280. c.2738-2A>G essential splice site 1Pathogenic (1)0.000000
281. c.2875_2876delAC p.Thr959GlyfsX91frameshift 1Pathogenic (1)0.000000
282. c.3728C>G p.P1243Rmissense 1VUS (1)0.000000
283. c.3690_3691delCA p.Phe1230LeufsX11frameshift 1Pathogenic (1)0.000000
284. c.2968C>G p.P990Amissense 1Likely Pathogenic (1)0.000000
285. c.2437A>T p.K813Xnonsense 1Pathogenic (1)0.000000
286. c.49C>T p.R17Wmissense 1VUS (1)0.000023
287. c.3316del p.Asp1106Thrfs*83frameshift 1Pathogenic (1)0.000000
288. c.3476_3477delTT frameshift 1Pathogenic (1)0.000000
289. c.290C>T p.A97Vmissense 1VUS favour pathogenic (1)0.000000
290. c.2603-2_2603-1delinsGA essential splice site 1Pathogenic (1)0.000000
291. c.2161_2168del p.Thr721Profs*23frameshift 1Pathogenic (1)0.000000
292. c.993_994insT p.E332Xnonsense 1Pathogenic (1)0.000000
293. c.2789del p.Leu930Argfs*2frameshift 1Pathogenic (1)0.000000
294. c.2780_2781delCA frameshift 1Pathogenic (1)0.000000
295. c.2528_2536delAGATGCGCG p.Glu843_Arg845delinframe 1Pathogenic (1)0.000000
296. c.2502del p.Arg835Alafs*2frameshift 1Pathogenic (1)0.000000
297. c.2234A>G p.D745Gmissense 1VUS (1)0.000000
298. c.326C>T p.A109Vmissense 1VUS (1)0.000000
299. c.1405C>T p.Q469Xnonsense 1Pathogenic (1)0.000000
300. c.2040_2041insT p.Val681CysfsX12frameshift 1Pathogenic (1)0.000000
301. c.1080G>C p.K360Nmissense 1VUS (1)0.000000
302. c.3580G>A p.A1194Tmissense 1VUS (1)0.000008
303. c.1188G>T p.W396Cmissense 1VUS (1)0.000000
304. c.1756C>G p.P586Amissense 1Likely Pathogenic (1)0.000000
305. c.3335G>A p.W1112Xnonsense 1Pathogenic (1)0.000000
306. c.436A>C p.T146Pmissense 1VUS (1)0.000000
307. c.1224-1G>T essential splice site 1Pathogenic (1)0.000000
308. c.481C>A p.P161Tmissense 1VUS favour pathogenic (1)0.000041
309. c.506-1G>T essential splice site 1Pathogenic (1)0.000000
310. c.3656T>C p.L1219Pmissense 1VUS (1)0.000000
311. c.1097A>C p.Q366Pmissense 1VUS (1)0.000000
312. c.3019T>C p.W1007Rmissense 1VUS (1)0.000000
313. c.365C>A p.A122Dmissense 1VUS (1)0.000000
314. c.931T>A p.S311Tmissense 1VUS (1)0.000000
315. c.1540A>G p.I514Vmissense 1VUS (1)0.000008
316. c.3572C>T p.S1191Lmissense 1VUS (1)0.000016
317. c.701C>A p.T234Nmissense 1Likely Pathogenic (1)0.000000
318. c.1358C>T p.P453Lmissense 1VUS (1)0.000008
319. c.1624+1G>A essential splice site 1Pathogenic (1)0.000000
320. c.3049G>A p.E1017Kmissense 1VUS favour benign (1)0.000085
321. c.2909G>A p.R970Qmissense 1Likely Pathogenic (1)0.000032
322. c.211_212delinsTA p.Val71*frameshift 1Pathogenic (1)0.000000
323. c.1343T>C p.F448Smissense 1Likely Pathogenic (1)0.000000
324. c.1168delC frameshift 1Pathogenic (1)0.000000
325. c.2938C>T p.R980Cmissense 1VUS (1)0.000062
326. c.2030C>T p.P677Lmissense 1VUS (1)0.000000
327. c.2170C>T p.R724Wmissense 1VUS (1)0.000019
328. c.3257G>A p.W1086Xnonsense 1Pathogenic (1)0.000021
329. c.3G>C p.Met1?missense 1Likely Pathogenic (1)0.000000
330. c.982delG frameshift 1Pathogenic (1)0.000000
331. c.2557G>A p.G853Smissense 1VUS (1)0.000008
332. c.1291G>A p.D431Nmissense 1VUS (1)0.000028
333. c.631G>A p.D211Nmissense 1VUS (1)0.000009
334. c.1294G>A p.A432Tmissense 1VUS (1)0.000037
335. c.3040delC p.Leu1014TrpfsX6frameshift 1Pathogenic (1)0.000000
336. c.3334_3351del p.Trp1112_Glu1117delinframe 1Likely Pathogenic (1)0.000000
337. c.711C>A p.Y237Xnonsense 1Pathogenic (1)0.000000
338. c.2737+2T>A essential splice site 1Pathogenic (1)0.000000
339. c.3605G>A p.C1202Ymissense 1Likely Pathogenic (1)0.000000
340. c.146_148delTCA p.Ile49delinframe 1VUS (1)0.000039
341. c.613C>T p.Q205Xnonsense 1Pathogenic (1)0.000000
342. c.2834G>A p.R945Qmissense 1VUS (1)0.000000
343. c.2512dup p.Glu838Glyfs*46frameshift 1Pathogenic (1)0.000000
344. c.3332_3335dupAGTG p.W1112Xnonsense 1Pathogenic (1)0.000000
345. c.3256T>C p.W1086Rmissense 1VUS (1)0.000000
346. c.2708G>A p.G903Dmissense 1Likely Pathogenic (1)0.000000
347. c.2641G>A p.V881Imissense 1VUS (1)0.000018
348. c.2939G>A p.R980Hmissense 1VUS (1)0.000000
349. c.1535T>A p.L512Qmissense 1VUS favour pathogenic (1)0.000000
350. c.1266_1267insTGAT p.Ile423*frameshift 1Pathogenic (1)0.000000
351. c.3815-1G>A essential splice site 1Pathogenic (1)0.000000
352. c.1892delT frameshift 1Pathogenic (1)0.000000
353. c.1457G>A p.W486Xnonsense 1Pathogenic (1)0.000000
354. c.3753T>G p.Y1251Xnonsense 1Pathogenic (1)0.000000
355. c.3605delG frameshift 1Pathogenic (1)0.000000
356. c.1950C>G p.D650Emissense 1VUS (1)0.000000
357. c.3713T>C p.L1238Pmissense 1Likely Pathogenic (1)0.000000
358. c.1174G>T p.A392Smissense 1VUS (1)0.000000
359. c.3742G>A p.G1248Rmissense 1VUS (1)0.000033
360. c.518C>A p.T173Nmissense 1VUS (1)0.000000
361. c.1359del p.Val454Cysfs*12frameshift 1Pathogenic (1)0.000000
362. c.255del p.Ser86Profs*10frameshift 1Pathogenic (1)0.000000
363. c.2249C>T p.T750Mmissense 1Likely Pathogenic (1)0.000024
364. c.3452C>T p.A1151Vmissense 1VUS (1)0.000078
365. c.553_562del p.Lys185Trpfs*12frameshift 1Pathogenic (1)0.000000
366. c.2504G>T p.R835Lmissense 1Likely Pathogenic (1)0.000074
367. c.103C>T p.R35Wmissense 1VUS (1)0.000056
368. c.3614G>A p.R1205Qmissense 1VUS (1)0.000016
369. c.2993A>G p.Q998Rmissense 1VUS favour pathogenic (1)0.000000
370. c.2654C>T p.T885Mmissense 1VUS (1)0.000022
371. c.2737+1G>C essential splice site 1Pathogenic (1)0.000000
372. c.1377delC frameshift 1Pathogenic (1)0.000000
373. c.3797G>A p.C1266Ymissense 1Likely Pathogenic (1)0.000000
374. c.1789C>T p.R597Wmissense 1VUS (1)0.000038
375. c.1021G>C p.G341Rmissense 1VUS (1)0.000000
376. c.3791G>A p.C1264Ymissense 1VUS (1)0.000008
377. c.2048G>A p.W683Xnonsense 1Pathogenic (1)0.000000
378. c.3792_3793del p.Cys1264*frameshift 1Likely Pathogenic (1)0.000000
379. c.1112C>T p.P371Lmissense 1VUS (1)0.000028
380. c.2149-1G>A essential splice site 1Pathogenic (1)0.000000
381. c.188G>A p.R63Qmissense 1VUS (1)0.000039
382. c.821+1G>C essential splice site 1Pathogenic (1)0.000000
383. c.3364A>T p.T1122Smissense 1Likely Pathogenic (1)0.000000
384. c.1678delG p.Asp560ThrfsX19frameshift 1Pathogenic (1)0.000000
385. c.799C>G p.L267Vmissense 1VUS (1)0.000080
386. c.1156G>T p.E386Xnonsense 1Pathogenic (1)0.000000
387. c.2149_2737del p.Leu717Alafs*11frameshift 1Pathogenic (1)0.000000
388. c.2906-2A>G essential splice site 1Pathogenic (1)0.000000
389. c.3614G>C p.R1205Pmissense 1Likely Pathogenic (1)0.000000
390. c.533delT p.Val178GlyfsX7frameshift 1Pathogenic (1)0.000000
391. c.2953A>G p.K985Emissense 1Pathogenic (1)0.000000
392. c.2524_2525insT p.Tyr842LeufsX42frameshift 1Pathogenic (1)0.000000
393. c.333_334insT p.E112Xnonsense 1Pathogenic (1)0.000000
394. c.3297dup p.Tyr1100Valfs*49frameshift 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.