MYBPC3 variants in HCM cohorts


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.2429G>A p.R810Hmissense 19VUS (11)VUS favour pathogenic (8)0.000033
8. c.2096delC frameshift 19Pathogenic (15)Pathogenic (4)0.000000
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.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.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.2573G>A p.S858Nmissense 6Likely Pathogenic (2)VUS favour pathogenic (4)0.000000
30. c.2459G>A p.R820Qmissense 6VUS (5)Likely Pathogenic (1)0.000016
31. c.710A>C p.Y237Smissense 6Likely Pathogenic (3)Likely Pathogenic (3)0.000000
32. c.3065G>C p.R1022Pmissense 6Likely Pathogenic (5)VUS favour pathogenic (1)0.000025
33. c.2905C>T p.Q969Xnonsense 5Pathogenic (2)Pathogenic (3)0.000000
34. c.913_914delTT frameshift 5Pathogenic (5)0.000000
35. c.2610delC frameshift 5Pathogenic (5)0.000000
36. c.2267delC frameshift 5Pathogenic (5)0.000000
37. c.3064C>T p.R1022Cmissense 5VUS (1)VUS favour pathogenic (4)0.000008
38. c.821+2T>C essential splice site 5Pathogenic (4)Pathogenic (1)0.000000
39. c.2374T>C p.W792Rmissense 5Likely Pathogenic (5)0.000000
40. c.2556_2557delinsTCT p.Gly853fsframeshift 5Pathogenic (4)Pathogenic (1)0.000000
41. c.1828G>A p.D610Nmissense 5VUS (2)VUS (3)0.000000
42. c.821+1G>A essential splice site 5Pathogenic (1)Pathogenic (4)0.000043
43. c.3181C>T p.Q1061Xnonsense 4Pathogenic (3)Pathogenic (1)0.000016
44. c.2182G>T p.E728Xnonsense 4Pathogenic (4)0.000000
45. c.26-2A>G essential splice site 4Pathogenic (4)0.000051
46. c.3277G>T p.G1093Cmissense 4VUS (3)VUS (1)0.000020
47. c.3163A>T p.K1055Xnonsense 4Pathogenic (4)0.000000
48. c.484C>T p.Q162Xnonsense 4Pathogenic (4)0.000000
49. c.3742_3759dup p.Gly1248_Cys1253dupinframe 4Likely Pathogenic (4)0.000000
50. c.3798C>G p.C1266Wmissense 4VUS (4)0.000000
51. c.2210C>T p.T737Mmissense 4VUS (3)VUS (1)0.000050
52. c.3286G>T p.E1096Xnonsense 4Pathogenic (3)Pathogenic (1)0.000000
53. c.2873C>T p.T958Imissense 4VUS (1)VUS favour benign (3)0.000065
54. c.3408C>A p.Y1136Xnonsense 4Pathogenic (3)Pathogenic (1)0.000000
55. c.1591G>A p.G531Rmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000017
56. c.3763G>A p.A1255Tmissense 4VUS (3)VUS favour pathogenic (1)0.000075
57. c.1483C>T p.R495Wmissense 4Likely Pathogenic (2)VUS favour pathogenic (2)0.000000
58. c.2454G>A p.W818Xnonsense 4Pathogenic (4)0.000000
59. c.1123G>A p.V375Mmissense 3VUS (3)0.000009
60. c.177_187del p.Glu60AlafsX49frameshift 3Pathogenic (2)Pathogenic (1)0.000000
61. c.355G>A p.E119Kmissense 3VUS (3)0.000000
62. c.2545del p.Val849Serfs*30frameshift 3Pathogenic (3)0.000000
63. c.1720C>T p.R574Wmissense 3VUS (3)0.000054
64. c.2309-1G>A essential splice site 3Pathogenic (3)0.000000
65. c.3767_3769delCCA p.Thr1256delinframe 3Likely Pathogenic (3)0.000000
66. c.3190+1G>A essential splice site 3Pathogenic (3)0.000000
67. c.3600_3609delCTGCTGTGCT frameshift 3Pathogenic (3)Pathogenic (0)0.000000
68. c.2920C>T p.Q974Xnonsense 3Pathogenic (3)0.000000
69. c.532G>A p.V178Mmissense 3VUS (1)VUS favour pathogenic (2)0.000020
70. c.833delG p.Gly278GlufsX22frameshift 3Pathogenic (2)Pathogenic (1)0.000000
71. c.2450G>A p.R817Qmissense 3VUS favour pathogenic (3)0.000016
72. c.1828G>C p.D610Hmissense 3VUS (1)VUS favour benign (2)0.000058
73. c.2311_2312insG p.Val771GlyfsX62frameshift 3Pathogenic (3)0.000000
74. c.3233G>A p.W1078Xnonsense 3Pathogenic (3)0.000022
75. c.3129C>A p.Y1043Xnonsense 3Pathogenic (3)0.000000
76. c.1037G>A p.R346Hmissense 3VUS (1)VUS (2)0.000000
77. c.3491-2A>T essential splice site 3Pathogenic (3)0.000000
78. c.2558delG frameshift 3Pathogenic (1)Pathogenic (2)0.000000
79. c.772+1G>A essential splice site 3Pathogenic (1)Pathogenic (2)0.000000
80. c.3624delC frameshift 3Pathogenic (1)Pathogenic (2)0.000000
81. c.2308+1G>A essential splice site 3Pathogenic (2)Pathogenic (1)0.000000
82. c.1790G>A p.R597Qmissense 3VUS (1)VUS favour pathogenic (2)0.000000
83. c.3005G>A p.R1002Qmissense 2VUS (2)0.000046
84. c.2219G>C p.G740Amissense 2VUS (2)0.000000
85. c.1273C>T p.Q425Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
86. c.1934C>T p.P645Lmissense 2VUS (2)0.000000
87. c.3752A>G p.Y1251Cmissense 2VUS (2)0.000000
88. c.3582_3593delGGGCTACACTGC inframe 2Likely Pathogenic (1)0.000000
89. c.1021G>A p.G341Smissense 2VUS (1)VUS favour pathogenic (1)0.000025
90. c.2269G>A p.V757Mmissense 2VUS (1)VUS (1)0.000066
91. c.1090+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
92. c.2534_2538delGCGTC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
93. c.814C>T p.R272Cmissense 2VUS (2)0.000083
94. c.3624_3625insC p.Lys1209GlnfsX33frameshift 2Pathogenic (2)0.000000
95. c.999C>G p.Y333Xnonsense 2Pathogenic (2)0.000000
96. c.1513_1515delAAG inframe 2VUS favour pathogenic (2)0.000000
97. c.1886T>C p.L629Pmissense 2VUS (2)0.000000
98. c.1357_1358delCC frameshift 2Pathogenic (2)0.000000
99. c.3455_3466del p.Ala1152_Lys1155delinframe 2Likely Pathogenic (2)0.000000
100. c.932C>A p.S311Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
101. c.2943_2947delGACCA frameshift 2Pathogenic (2)0.000000
102. c.373G>T p.A125Smissense 2VUS (1)VUS (1)0.000000
103. c.2449C>T p.R817Wmissense 2VUS (1)VUS (1)0.000000
104. c.1897+1G>A essential splice site 2Pathogenic (2)0.000000
105. c.3271del p.Asp1091Metfs*98frameshift 2Pathogenic (2)0.000000
106. c.2905+2dup essential splice site 2Likely Pathogenic (2)0.000000
107. c.3470C>T p.P1157Lmissense 2VUS (2)0.000093
108. c.1210C>T p.Q404Xnonsense 2Pathogenic (2)0.000000
109. c.1863delC p.Phe621LeufsX42frameshift 2Pathogenic (2)0.000000
110. c.636C>G p.S212Rmissense 2VUS favour pathogenic (2)0.000000
111. c.1456T>G p.W486Gmissense 2VUS (1)Likely Pathogenic (1)0.000000
112. c.3192_3193insC p.Lys1065GlnfsX12frameshift 2Pathogenic (2)0.000000
113. c.2526C>G p.Y842Xnonsense 2Pathogenic (2)0.000000
114. c.3751T>C p.Y1251Hmissense 2VUS (2)0.000000
115. c.3253G>T p.E1085Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
116. c.2524dup p.Tyr842Leufs*42frameshift 2Pathogenic (2)0.000000
117. c.3811C>T p.R1271Xnonsense 2VUS (1)Pathogenic (1)0.000025
118. c.126G>A p.W42Xnonsense 2Pathogenic (2)0.000000
119. c.844C>T p.R282Wmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
120. c.1090+1G>T essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
121. c.747C>A p.C249Xnonsense 2Pathogenic (2)0.000000
122. c.459delC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
123. c.818G>A p.R273Hmissense 2VUS (2)0.000042
124. c.2320G>A p.A774Tmissense 2VUS (2)0.000000
125. c.1869C>A p.C623Xnonsense 2Pathogenic (2)0.000000
126. c.443dup p.Ala149Serfs*4frameshift 2Pathogenic (2)0.000000
127. c.2300A>G p.K767Rmissense 2VUS (2)0.000016
128. c.1766G>A p.R589Hmissense 2VUS (2)0.000000
129. c.557C>T p.P186Lmissense 2VUS (2)0.000047
130. c.436_437insA p.Thr146AsnfsX7frameshift 2Pathogenic (2)0.000000
131. c.2882C>T p.P961Lmissense 2VUS (2)0.000048
132. c.2953A>T p.K985Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
133. c.1351+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
134. c.1999_2000delinsG p.Leu667AspfsX15frameshift 2Pathogenic (1)Pathogenic (1)0.000000
135. c.2432A>G p.K811Rmissense 2VUS (2)0.000000
136. c.25+1G>A essential splice site 2Pathogenic (2)0.000000
137. c.1213A>G p.M405Vmissense 2VUS (1)Pathogenic (1)0.000000
138. c.1895delT p.Met632ArgfsX31frameshift 2Pathogenic (2)0.000000
139. c.1038_1042dupCGGCA frameshift 2Pathogenic (1)Pathogenic (1)0.000008
140. c.3676C>T p.R1226Cmissense 2VUS (1)VUS (1)0.000058
141. c.3627+1G>T essential splice site 2Pathogenic (2)0.000000
142. c.3373G>A p.V1125Mmissense 2VUS (1)VUS favour pathogenic (1)0.000022
143. c.2197C>T p.R733Cmissense 2Likely Pathogenic (1)VUS (1)0.000085
144. c.1841A>G p.Y614Cmissense 2VUS (1)VUS favour pathogenic (1)0.000000
145. c.932C>T p.S311Lmissense 1VUS (1)0.000000
146. c.2040_2041insT p.Val681CysfsX12frameshift 1Pathogenic (1)0.000000
147. c.3330+1G>C essential splice site 1Pathogenic (1)0.000000
148. c.1376_1377del p.Pro459Leufs*15frameshift 1Pathogenic (1)0.000000
149. c.533delT p.Val178GlyfsX7frameshift 1Pathogenic (1)0.000000
150. c.187C>T p.R63Wmissense 1VUS (1)0.000077
151. c.3335G>A p.W1112Xnonsense 1Pathogenic (1)0.000000
152. c.2747G>A p.W916Xnonsense 1Pathogenic (1)0.000000
153. c.121dup p.Arg41Profs*8frameshift 1Pathogenic (1)0.000000
154. c.1672G>A p.A558Tmissense 1VUS (1)0.000008
155. c.2149_2737del p.Leu717Alafs*11frameshift 1Pathogenic (1)0.000000
156. c.1156G>T p.E386Xnonsense 1Pathogenic (1)0.000000
157. c.2249C>T p.T750Mmissense 1Likely Pathogenic (1)0.000024
158. c.731del p.Lys244Argfs*56frameshift 1Pathogenic (1)0.000000
159. c.1535T>A p.L512Qmissense 1VUS favour pathogenic (1)0.000000
160. c.2557G>A p.G853Smissense 1VUS (1)0.000008
161. c.1756C>G p.P586Amissense 1Likely Pathogenic (1)0.000000
162. c.3166_3167insG p.Ala1056GlyfsX9frameshift 1Pathogenic (1)0.000000
163. c.811_817delTTCCGCC frameshift 1Pathogenic (1)0.000000
164. c.2518G>A p.V840Mmissense 1VUS (1)0.000016
165. c.1892delT frameshift 1Pathogenic (1)0.000000
166. c.391dup p.Ala131Glyfs*22frameshift 1Pathogenic (1)0.000000
167. c.506-1G>T essential splice site 1Pathogenic (1)0.000000
168. c.3043dup p.Ala1015Glyfs*36frameshift 1Pathogenic (1)0.000000
169. c.1575T>G p.Y525Xnonsense 1Pathogenic (1)0.000000
170. c.3068_3069insA p.Asn1023LysfsX28frameshift 1Pathogenic (1)0.000000
171. c.1201C>T p.Q401Xnonsense 1Pathogenic (1)0.000000
172. c.1291G>A p.D431Nmissense 1VUS (1)0.000028
173. c.177dup p.Glu60Argfs*53frameshift 1Pathogenic (1)0.000000
174. c.1397T>A p.M466Kmissense 1VUS (1)0.000008
175. c.1188G>T p.W396Cmissense 1VUS (1)0.000000
176. c.2748G>A p.W916Xnonsense 1Pathogenic (1)0.000000
177. c.1351+2T>C essential splice site 1Pathogenic (1)0.000000
178. c.821+2T>G essential splice site 1Pathogenic (1)0.000000
179. c.3357C>A p.Y1119Xnonsense 1Pathogenic (1)0.000000
180. c.1294G>A p.A432Tmissense 1VUS (1)0.000037
181. c.1405C>T p.Q469Xnonsense 1Pathogenic (1)0.000000
182. c.481C>A p.P161Tmissense 1VUS favour pathogenic (1)0.000041
183. c.506-1G>A essential splice site 1Pathogenic (1)0.000000
184. c.1628delA frameshift 1Pathogenic (1)0.000000
185. c.2113_2114insA p.Thr705AsnfsX3frameshift 1Pathogenic (1)0.000000
186. c.1789C>T p.R597Wmissense 1VUS (1)0.000038
187. c.3815-1G>A essential splice site 1Pathogenic (1)0.000000
188. c.3206C>A p.P1069Hmissense 1Likely Pathogenic (1)0.000000
189. c.1224-1G>T essential splice site 1Pathogenic (1)0.000000
190. c.3580G>A p.A1194Tmissense 1VUS (1)0.000008
191. c.3791G>A p.C1264Ymissense 1VUS (1)0.000008
192. c.3753T>G p.Y1251Xnonsense 1Pathogenic (1)0.000000
193. c.2965G>T p.E989Xnonsense 1Pathogenic (1)0.000000
194. c.982delG frameshift 1Pathogenic (1)0.000000
195. c.326C>T p.A109Vmissense 1VUS (1)0.000000
196. c.2603-1G>C essential splice site 1Pathogenic (1)0.000000
197. c.3735delC frameshift 1Likely Pathogenic (1)0.000000
198. c.3G>C p.Met1?missense 1Likely Pathogenic (1)0.000000
199. c.2304_2308+2delCATCGGT essential splice site 1Pathogenic (1)0.000000
200. c.1080G>C p.K360Nmissense 1VUS (1)0.000000
201. c.2234A>G p.D745Gmissense 1VUS (1)0.000000
202. c.3065G>A p.R1022Hmissense 1VUS favour pathogenic (1)0.000000
203. c.3316G>A p.D1106Nmissense 1VUS (1)0.000061
204. c.1457G>A p.W486Xnonsense 1Pathogenic (1)0.000000
205. c.3476_3479dupTTAT p.Pro1161TyrfsX9frameshift 1Pathogenic (1)0.000000
206. c.631G>A p.D211Nmissense 1VUS (1)0.000009
207. c.3083C>G p.T1028Smissense 1VUS (1)0.000000
208. c.436A>C p.T146Pmissense 1VUS (1)0.000000
209. c.2381C>A p.P794Qmissense 1VUS (1)0.000000
210. c.2541C>A p.Y847Xnonsense 1Pathogenic (1)0.000000
211. c.1377delC frameshift 1Pathogenic (1)0.000000
212. c.241G>T p.V81Fmissense 1VUS (1)0.000000
213. c.2939G>A p.R980Hmissense 1VUS (1)0.000000
214. c.2807dup p.Ala938Glyfs*113frameshift 1Pathogenic (1)0.000000
215. c.2641G>A p.V881Imissense 1VUS (1)0.000018
216. c.49C>T p.R17Wmissense 1VUS (1)0.000023
217. c.3617delG frameshift 1Pathogenic (1)0.000000
218. c.2054_2067+11del p.Lys685Argfs*3frameshift 1Pathogenic (1)0.000000
219. c.1021G>C p.G341Rmissense 1VUS (1)0.000000
220. c.1A>T p.Met1?missense 1Likely Pathogenic (1)0.000000
221. c.2048G>A p.W683Xnonsense 1Pathogenic (1)0.000000
222. c.2690_2696del p.Gly897Glufs*25frameshift 1Pathogenic (1)0.000000
223. c.1224-2A>G essential splice site 1Pathogenic (1)0.000000
224. c.1898-1G>A essential splice site 1Pathogenic (1)0.000000
225. c.611_618delinsT p.Gly204Valfs*94frameshift 1Pathogenic (1)0.000000
226. c.2610_2611insC p.Ser871GlnfsX13frameshift 1Pathogenic (1)0.000000
227. c.2737+1G>C essential splice site 1Pathogenic (1)0.000000
228. c.1266_1267insTGAT p.Ile423*frameshift 1Pathogenic (1)0.000000
229. c.2828G>A p.R943Qmissense 1VUS (1)0.000025
230. c.931T>A p.S311Tmissense 1VUS (1)0.000000
231. c.2429_2503delins23 p.Arg810Profs*10frameshift 1Pathogenic (1)0.000000
232. c.2437A>T p.K813Xnonsense 1Pathogenic (1)0.000000
233. c.1471G>A p.V491Mmissense 1VUS (1)0.000058
234. c.256_258del p.Ser86delinframe 1VUS (1)0.000000
235. c.713G>A p.R238Hmissense 1VUS (1)0.000074
236. c.1343T>C p.F448Smissense 1Likely Pathogenic (1)0.000000
237. c.3605G>A p.C1202Ymissense 1Likely Pathogenic (1)0.000000
238. c.2503C>T p.R835Cmissense 1VUS (1)0.000024
239. c.1097A>C p.Q366Pmissense 1VUS (1)0.000000
240. c.2533C>T p.R845Cmissense 1VUS favour pathogenic (1)0.000000
241. c.3728C>G p.P1243Rmissense 1VUS (1)0.000000
242. c.3415G>A p.V1139Imissense 1VUS (1)0.000087
243. c.1523_1525delinsT p.Gln508Leufs*22frameshift 1Pathogenic (1)0.000000
244. c.3331-1G>A essential splice site 1Pathogenic (1)0.000000
245. c.711C>A p.Y237Xnonsense 1Pathogenic (1)0.000000
246. c.1950C>G p.D650Emissense 1VUS (1)0.000000
247. c.2718_2719dup p.Glu907Glyfs*18frameshift 1Pathogenic (1)0.000000
248. c.2198G>A p.R733Hmissense 1VUS (1)0.000034
249. c.701C>A p.T234Nmissense 1Likely Pathogenic (1)0.000000
250. c.2308+1G>T essential splice site 1Pathogenic (1)0.000000
251. c.2163delC p.Glu722ArgfsX32frameshift 1Pathogenic (1)0.000000
252. c.3316del p.Asp1106Thrfs*83frameshift 1Pathogenic (1)0.000000
253. c.821+1G>C essential splice site 1Pathogenic (1)0.000000
254. c.2995-1G>A essential splice site 1Pathogenic (1)0.000000
255. c.1359del p.Val454Cysfs*12frameshift 1Pathogenic (1)0.000000
256. c.551_552insT p.Lys185GlufsX56frameshift 1Pathogenic (1)0.000000
257. c.146_148delTCA p.Ile49delinframe 1VUS (1)0.000039
258. c.2993A>G p.Q998Rmissense 1VUS favour pathogenic (1)0.000000
259. c.3656T>C p.L1219Pmissense 1VUS (1)0.000000
260. c.2188del p.Thr730Profs*24frameshift 1Pathogenic (1)0.000000
261. c.2875_2876delAC p.Thr959GlyfsX91frameshift 1Pathogenic (1)0.000000
262. c.1112C>T p.P371Lmissense 1VUS (1)0.000028
263. c.100_110dup p.Val38Serfs*5frameshift 1Pathogenic (1)0.000000
264. c.1174G>T p.A392Smissense 1VUS (1)0.000000
265. c.1586C>G p.T529Smissense 1VUS favour pathogenic (1)0.000000
266. c.2723A>G p.Y908Cmissense 1VUS (1)0.000062
267. c.3572C>T p.S1191Lmissense 1VUS (1)0.000016
268. c.1731G>C p.W577Cmissense 1VUS (1)0.000000
269. c.1778C>T p.S593Fmissense 1VUS favour pathogenic (1)0.000034
270. c.799C>G p.L267Vmissense 1VUS (1)0.000080
271. c.2560A>G p.M854Vmissense 1VUS (1)0.000000
272. c.518C>A p.T173Nmissense 1VUS (1)0.000000
273. c.1924C>T p.Q642Xnonsense 1Pathogenic (1)0.000000
274. c.1685C>T p.A562Vmissense 1VUS (1)0.000008
275. c.365C>A p.A122Dmissense 1VUS (1)0.000000
276. c.3694A>T p.K1232Xnonsense 1Pathogenic (1)0.000000
277. c.2968C>G p.P990Amissense 1Likely Pathogenic (1)0.000000
278. c.3019T>C p.W1007Rmissense 1VUS (1)0.000000
279. c.1404del p.Gln469Serfs*19frameshift 1Pathogenic (1)0.000000
280. c.3690_3691delCA p.Phe1230LeufsX11frameshift 1Pathogenic (1)0.000000
281. c.188G>A p.R63Qmissense 1VUS (1)0.000039
282. c.3713T>C p.L1238Pmissense 1Likely Pathogenic (1)0.000000
283. c.2247C>A p.Y749Xnonsense 1Pathogenic (1)0.000000
284. c.2737+2T>A essential splice site 1Pathogenic (1)0.000000
285. c.1153G>A p.V385Mmissense 1VUS (1)0.000010
286. c.1540A>G p.I514Vmissense 1VUS (1)0.000008
287. c.1418T>C p.F473Smissense 1VUS (1)0.000000
288. c.2738-2A>G essential splice site 1Pathogenic (1)0.000000
289. c.1678delG p.Asp560ThrfsX19frameshift 1Pathogenic (1)0.000000
290. c.2265C>A p.N755Kmissense 1Pathogenic (1)0.000000
291. c.2833_2834delCG frameshift 1Pathogenic (1)0.000000
292. c.3742G>A p.G1248Rmissense 1VUS (1)0.000033
293. c.2013_2016delinsGG p.Pro672AspfsX20frameshift 1Pathogenic (1)0.000000
294. c.3334_3351del p.Trp1112_Glu1117delinframe 1Likely Pathogenic (1)0.000000
295. c.3040delC p.Leu1014TrpfsX6frameshift 1Pathogenic (1)0.000000
296. c.1693A>T p.K565Xnonsense 1Pathogenic (1)0.000000
297. c.3281A>T p.N1094Imissense 1VUS (1)0.000000
298. c.2584C>T p.Q862Xnonsense 1Pathogenic (1)0.000000
299. c.2149-1G>A essential splice site 1Pathogenic (1)0.000000
300. c.431_432delGT p.Gly144AlafsX8frameshift 1Pathogenic (1)0.000000
301. c.655-1G>A essential splice site 1Pathogenic (1)0.000000
302. c.1699_1700delGA p.Glu567GlyfsX4frameshift 1Pathogenic (1)0.000000
303. c.1223+2T>C essential splice site 1Pathogenic (1)0.000000
304. c.1505G>T p.R502Lmissense 1VUS favour pathogenic (1)0.000000
305. c.3792_3793del p.Cys1264*frameshift 1Likely Pathogenic (1)0.000000
306. c.3288delG frameshift 1Pathogenic (1)0.000000
307. c.451G>A p.D151Nmissense 1VUS (1)0.000041
308. c.3605delG frameshift 1Pathogenic (1)0.000000
309. c.1797del p.His599Glnfs*3frameshift 1Pathogenic (1)0.000000
310. c.1168delC frameshift 1Pathogenic (1)0.000000
311. c.1358C>T p.P453Lmissense 1VUS (1)0.000008
312. c.2789del p.Leu930Argfs*2frameshift 1Pathogenic (1)0.000000
313. c.3797G>A p.C1266Ymissense 1Likely Pathogenic (1)0.000000
314. c.1000G>T p.E334Xnonsense 1Pathogenic (1)0.000000
315. c.1021_1028del p.Gly341*frameshift 1Pathogenic (1)0.000000
316. c.3548T>G p.F1183Cmissense 1Likely Pathogenic (1)0.000000
317. c.3364A>T p.T1122Smissense 1Likely Pathogenic (1)0.000000
318. c.104G>A p.R35Qmissense 1VUS (1)0.000079
319. c.3257G>A p.W1086Xnonsense 1Pathogenic (1)0.000021
320. c.1455A>T p.K485Nmissense 1VUS (1)0.000000
321. c.3098G>A p.R1033Qmissense 1VUS (1)0.000000
322. c.853G>A p.D285Nmissense 1VUS (1)0.000000
323. c.2371C>T p.Q791Xnonsense 1Pathogenic (1)0.000000
324. c.1303C>T p.Q435Xnonsense 1Pathogenic (1)0.000000
325. c.211_212delinsTA p.Val71*frameshift 1Pathogenic (1)0.000000
326. c.3256T>C p.W1086Rmissense 1VUS (1)0.000000
327. c.3776delA frameshift 1Pathogenic (1)0.000000
328. c.2909G>A p.R970Qmissense 1Likely Pathogenic (1)0.000032
329. c.1231A>G p.I411Vmissense 1VUS (1)0.000000
330. c.993_994insT p.E332Xnonsense 1Pathogenic (1)0.000000
331. c.*26+2T>C essential splice site 1Likely Pathogenic (1)0.000000
332. c.3746G>T p.G1249Vmissense 1VUS (1)0.000000
333. c.3614G>A p.R1205Qmissense 1VUS (1)0.000016
334. c.2065C>T p.Q689Xnonsense 1Pathogenic (1)0.000000
335. c.994G>A p.E332Kmissense 1VUS (1)0.000009
336. c.1624+2T>C essential splice site 1Pathogenic (1)0.000000
337. c.2170C>T p.R724Wmissense 1VUS (1)0.000019
338. c.2525A>G p.Y842Cmissense 1VUS (1)0.000000
339. c.2603-2_2603-1delinsGA essential splice site 1Pathogenic (1)0.000000
340. c.553_562del p.Lys185Trpfs*12frameshift 1Pathogenic (1)0.000000
341. c.3452C>T p.A1151Vmissense 1VUS (1)0.000078
342. c.1458G>A p.W486Xnonsense 1Pathogenic (1)0.000000
343. c.3332_3335dupAGTG p.W1112Xnonsense 1Pathogenic (1)0.000000
344. c.3049G>A p.E1017Kmissense 1VUS favour benign (1)0.000085
345. c.3413G>C p.R1138Pmissense 1VUS (1)0.000000
346. c.2502del p.Arg835Alafs*2frameshift 1Pathogenic (1)0.000000
347. c.2780_2781delCA frameshift 1Pathogenic (1)0.000000
348. c.2524_2525insT p.Tyr842LeufsX42frameshift 1Pathogenic (1)0.000000
349. c.1433C>T p.S478Lmissense 1Likely Pathogenic (1)0.000017
350. c.255del p.Ser86Profs*10frameshift 1Pathogenic (1)0.000000
351. c.103C>T p.R35Wmissense 1VUS (1)0.000056
352. c.966G>A p.W322Xnonsense 1Pathogenic (1)0.000000
353. c.2834G>A p.R945Qmissense 1VUS (1)0.000000
354. c.2671C>T p.R891Wmissense 1Likely Pathogenic (1)0.000031
355. c.3825A>G p.X1275TrpextX77nonsense 1Likely Pathogenic (1)0.000000
356. c.1090+2T>C essential splice site 1Pathogenic (1)0.000000
357. c.2312T>C p.V771Amissense 1VUS (1)0.000000
358. c.290C>T p.A97Vmissense 1VUS favour pathogenic (1)0.000000
359. c.3614G>C p.R1205Pmissense 1Likely Pathogenic (1)0.000000
360. c.3476_3477delTT frameshift 1Pathogenic (1)0.000000
361. c.2906-2A>G essential splice site 1Pathogenic (1)0.000000
362. c.1072G>A p.D358Nmissense 1VUS (1)0.000008
363. c.1800delA frameshift 1Pathogenic (1)0.000000
364. c.2436G>T p.K812Nmissense 1VUS (1)0.000000
365. c.2708G>A p.G903Dmissense 1Likely Pathogenic (1)0.000000
366. c.2030C>T p.P677Lmissense 1VUS (1)0.000000
367. c.655-2del essential splice site 1Pathogenic (1)0.000000
368. c.2528_2536delAGATGCGCG p.Glu843_Arg845delinframe 1Pathogenic (1)0.000000
369. c.3297dup p.Tyr1100Valfs*49frameshift 1Pathogenic (1)0.000000
370. c.2905+1G>C essential splice site 1Pathogenic (1)0.000000
371. c.1352_1353del p.Glu451Alafs*23frameshift 1Pathogenic (1)0.000000
372. c.1960C>T p.R654Cmissense 1VUS favour benign (1)0.000008
373. c.613C>T p.Q205Xnonsense 1Pathogenic (1)0.000000
374. c.148A>G p.S50Gmissense 1VUS (1)0.000038
375. c.2161_2168del p.Thr721Profs*23frameshift 1Pathogenic (1)0.000000
376. c.2394_2395insT p.Gly799TrpfsX34frameshift 1Pathogenic (1)0.000000
377. c.1624+1G>A essential splice site 1Pathogenic (1)0.000000
378. c.351_352del p.Gly118Argfs*8frameshift 1Pathogenic (1)0.000000
379. c.2517_2538del p.Val840ThrfsX32frameshift 1Pathogenic (1)0.000000
380. c.2953A>G p.K985Emissense 1Pathogenic (1)0.000000
381. c.1458-1G>A essential splice site 1Pathogenic (1)0.000000
382. c.2504G>T p.R835Lmissense 1Likely Pathogenic (1)0.000074
383. c.1120C>T p.Q374Xnonsense 1Pathogenic (1)0.000000
384. c.3739G>A p.D1247Nmissense 1VUS (1)0.000000
385. c.1591G>C p.G531Rmissense 1VUS favour pathogenic (1)0.000017
386. c.2938C>T p.R980Cmissense 1VUS (1)0.000062
387. c.3490+1G>A essential splice site 1Pathogenic (1)0.000000
388. c.1569dup p.His524Alafs*7frameshift 1Pathogenic (1)0.000000
389. c.223G>A p.D75Nmissense 1VUS favour pathogenic (1)0.000091
390. c.333_334insT p.E112Xnonsense 1Pathogenic (1)0.000000
391. c.743_746delACTG frameshift 1Pathogenic (1)0.000000
392. c.2654C>T p.T885Mmissense 1VUS (1)0.000022
393. c.566T>A p.V189Dmissense 1VUS (1)0.000000
394. c.2512dup p.Glu838Glyfs*46frameshift 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.