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.3226_3227insT frameshift 18Pathogenic (12)Pathogenic (6)0.000000
10. c.2827C>T p.R943Xnonsense 18Pathogenic (11)Pathogenic (7)0.000017
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.3330+2T>G essential splice site 11Pathogenic (11)0.000000
16. c.442G>A p.G148Rmissense 11Likely Pathogenic (4)VUS favour pathogenic (7)0.000042
17. c.2308G>A p.D770Nmissense 11Likely Pathogenic (5)Likely Pathogenic (6)0.000008
18. c.2604_2605delinsA p.S871fsframeshift 10Pathogenic (8)Pathogenic (2)0.000000
19. c.927-2A>G essential splice site 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.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.710A>C p.Y237Smissense 6Likely Pathogenic (3)Likely Pathogenic (3)0.000000
30. c.2459G>A p.R820Qmissense 6VUS (5)Likely Pathogenic (1)0.000016
31. c.3065G>C p.R1022Pmissense 6Likely Pathogenic (5)VUS favour pathogenic (1)0.000025
32. c.2573G>A p.S858Nmissense 6Likely Pathogenic (2)VUS favour pathogenic (4)0.000000
33. c.821+1G>A essential splice site 5Pathogenic (1)Pathogenic (4)0.000043
34. c.821+2T>C essential splice site 5Pathogenic (4)Pathogenic (1)0.000000
35. c.2374T>C p.W792Rmissense 5Likely Pathogenic (5)0.000000
36. c.3064C>T p.R1022Cmissense 5VUS (1)VUS favour pathogenic (4)0.000008
37. c.2905C>T p.Q969Xnonsense 5Pathogenic (2)Pathogenic (3)0.000000
38. c.2267delC frameshift 5Pathogenic (5)0.000000
39. c.2610delC frameshift 5Pathogenic (5)0.000000
40. c.913_914delTT frameshift 5Pathogenic (5)0.000000
41. c.1828G>A p.D610Nmissense 5VUS (2)VUS (3)0.000000
42. c.2556_2557delinsTCT p.Gly853fsframeshift 5Pathogenic (4)Pathogenic (1)0.000000
43. c.2873C>T p.T958Imissense 4VUS (1)VUS favour benign (3)0.000065
44. c.1591G>A p.G531Rmissense 4Likely Pathogenic (1)VUS favour pathogenic (3)0.000017
45. c.2454G>A p.W818Xnonsense 4Pathogenic (4)0.000000
46. c.2182G>T p.E728Xnonsense 4Pathogenic (4)0.000000
47. c.3286G>T p.E1096Xnonsense 4Pathogenic (3)Pathogenic (1)0.000000
48. c.484C>T p.Q162Xnonsense 4Pathogenic (4)0.000000
49. c.1483C>T p.R495Wmissense 4Likely Pathogenic (2)VUS favour pathogenic (2)0.000000
50. c.3798C>G p.C1266Wmissense 4VUS (4)0.000000
51. c.3408C>A p.Y1136Xnonsense 4Pathogenic (3)Pathogenic (1)0.000000
52. c.3742_3759dup p.Gly1248_Cys1253dupinframe 4Likely Pathogenic (4)0.000000
53. c.3763G>A p.A1255Tmissense 4VUS (3)VUS favour pathogenic (1)0.000075
54. c.3163A>T p.K1055Xnonsense 4Pathogenic (4)0.000000
55. c.3277G>T p.G1093Cmissense 4VUS (3)VUS (1)0.000020
56. c.3181C>T p.Q1061Xnonsense 4Pathogenic (3)Pathogenic (1)0.000016
57. c.26-2A>G essential splice site 4Pathogenic (4)0.000051
58. c.2210C>T p.T737Mmissense 4VUS (3)VUS (1)0.000050
59. c.1720C>T p.R574Wmissense 3VUS (3)0.000054
60. c.3767_3769delCCA p.Thr1256delinframe 3Likely Pathogenic (3)0.000000
61. c.772+1G>A essential splice site 3Pathogenic (1)Pathogenic (2)0.000000
62. c.177_187del p.Glu60AlafsX49frameshift 3Pathogenic (2)Pathogenic (1)0.000000
63. c.2920C>T p.Q974Xnonsense 3Pathogenic (3)0.000000
64. c.1790G>A p.R597Qmissense 3VUS (1)VUS favour pathogenic (2)0.000000
65. c.833delG p.Gly278GlufsX22frameshift 3Pathogenic (2)Pathogenic (1)0.000000
66. c.2450G>A p.R817Qmissense 3VUS favour pathogenic (3)0.000016
67. c.3600_3609delCTGCTGTGCT frameshift 3Pathogenic (3)Pathogenic (0)0.000000
68. c.3491-2A>T essential splice site 3Pathogenic (3)0.000000
69. c.2558delG frameshift 3Pathogenic (1)Pathogenic (2)0.000000
70. c.1828G>C p.D610Hmissense 3VUS (1)VUS favour benign (2)0.000058
71. c.2308+1G>A essential splice site 3Pathogenic (2)Pathogenic (1)0.000000
72. c.1037G>A p.R346Hmissense 3VUS (1)VUS (2)0.000000
73. c.3233G>A p.W1078Xnonsense 3Pathogenic (3)0.000022
74. c.2311_2312insG p.Val771GlyfsX62frameshift 3Pathogenic (3)0.000000
75. c.3129C>A p.Y1043Xnonsense 3Pathogenic (3)0.000000
76. c.2309-1G>A essential splice site 3Pathogenic (3)0.000000
77. c.2545del p.Val849Serfs*30frameshift 3Pathogenic (3)0.000000
78. c.532G>A p.V178Mmissense 3VUS (1)VUS favour pathogenic (2)0.000020
79. c.3624delC frameshift 3Pathogenic (1)Pathogenic (2)0.000000
80. c.355G>A p.E119Kmissense 3VUS (3)0.000000
81. c.1123G>A p.V375Mmissense 3VUS (3)0.000009
82. c.3190+1G>A essential splice site 3Pathogenic (3)0.000000
83. c.1999_2000delinsG p.Leu667AspfsX15frameshift 2Pathogenic (1)Pathogenic (1)0.000000
84. c.1021G>A p.G341Smissense 2VUS (1)VUS favour pathogenic (1)0.000025
85. c.1895delT p.Met632ArgfsX31frameshift 2Pathogenic (2)0.000000
86. c.2432A>G p.K811Rmissense 2VUS (2)0.000000
87. c.1357_1358delCC frameshift 2Pathogenic (2)0.000000
88. c.2269G>A p.V757Mmissense 2VUS (1)VUS (1)0.000066
89. c.3811C>T p.R1271Xnonsense 2VUS (1)Pathogenic (1)0.000025
90. c.1841A>G p.Y614Cmissense 2VUS (1)VUS favour pathogenic (1)0.000000
91. c.1213A>G p.M405Vmissense 2VUS (1)Pathogenic (1)0.000000
92. c.2449C>T p.R817Wmissense 2VUS (1)VUS (1)0.000000
93. c.3752A>G p.Y1251Cmissense 2VUS (2)0.000000
94. c.3455_3466del p.Ala1152_Lys1155delinframe 2Likely Pathogenic (2)0.000000
95. c.2905+2dup essential splice site 2Likely Pathogenic (2)0.000000
96. c.2524dup p.Tyr842Leufs*42frameshift 2Pathogenic (2)0.000000
97. c.3271del p.Asp1091Metfs*98frameshift 2Pathogenic (2)0.000000
98. c.814C>T p.R272Cmissense 2VUS (2)0.000083
99. c.2943_2947delGACCA frameshift 2Pathogenic (2)0.000000
100. c.2320G>A p.A774Tmissense 2VUS (2)0.000000
101. c.1090+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
102. c.3005G>A p.R1002Qmissense 2VUS (2)0.000046
103. c.3253G>T p.E1085Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
104. c.1897+1G>A essential splice site 2Pathogenic (2)0.000000
105. c.3627+1G>T essential splice site 2Pathogenic (2)0.000000
106. c.818G>A p.R273Hmissense 2VUS (2)0.000042
107. c.2219G>C p.G740Amissense 2VUS (2)0.000000
108. c.557C>T p.P186Lmissense 2VUS (2)0.000047
109. c.844C>T p.R282Wmissense 2Likely Pathogenic (1)VUS favour pathogenic (1)0.000000
110. c.1038_1042dupCGGCA frameshift 2Pathogenic (1)Pathogenic (1)0.000008
111. c.126G>A p.W42Xnonsense 2Pathogenic (2)0.000000
112. c.3676C>T p.R1226Cmissense 2VUS (1)VUS (1)0.000058
113. c.459delC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
114. c.2882C>T p.P961Lmissense 2VUS (2)0.000048
115. c.2197C>T p.R733Cmissense 2Likely Pathogenic (1)VUS (1)0.000085
116. c.3582_3593delGGGCTACACTGC inframe 2Likely Pathogenic (1)0.000000
117. c.3751T>C p.Y1251Hmissense 2VUS (2)0.000000
118. c.1863delC p.Phe621LeufsX42frameshift 2Pathogenic (2)0.000000
119. c.2953A>T p.K985Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
120. c.1886T>C p.L629Pmissense 2VUS (2)0.000000
121. c.443dup p.Ala149Serfs*4frameshift 2Pathogenic (2)0.000000
122. c.747C>A p.C249Xnonsense 2Pathogenic (2)0.000000
123. c.25+1G>A essential splice site 2Pathogenic (2)0.000000
124. c.1210C>T p.Q404Xnonsense 2Pathogenic (2)0.000000
125. c.932C>A p.S311Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
126. c.3373G>A p.V1125Mmissense 2VUS (1)VUS favour pathogenic (1)0.000022
127. c.1869C>A p.C623Xnonsense 2Pathogenic (2)0.000000
128. c.436_437insA p.Thr146AsnfsX7frameshift 2Pathogenic (2)0.000000
129. c.2534_2538delGCGTC frameshift 2Pathogenic (1)Pathogenic (1)0.000000
130. c.1934C>T p.P645Lmissense 2VUS (2)0.000000
131. c.3192_3193insC p.Lys1065GlnfsX12frameshift 2Pathogenic (2)0.000000
132. c.2526C>G p.Y842Xnonsense 2Pathogenic (2)0.000000
133. c.3470C>T p.P1157Lmissense 2VUS (2)0.000093
134. c.2300A>G p.K767Rmissense 2VUS (2)0.000016
135. c.999C>G p.Y333Xnonsense 2Pathogenic (2)0.000000
136. c.3624_3625insC p.Lys1209GlnfsX33frameshift 2Pathogenic (2)0.000000
137. c.1766G>A p.R589Hmissense 2VUS (2)0.000000
138. c.1513_1515delAAG inframe 2VUS favour pathogenic (2)0.000000
139. c.1273C>T p.Q425Xnonsense 2Pathogenic (1)Pathogenic (1)0.000000
140. c.1090+1G>T essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
141. c.1456T>G p.W486Gmissense 2VUS (1)Likely Pathogenic (1)0.000000
142. c.636C>G p.S212Rmissense 2VUS favour pathogenic (2)0.000000
143. c.1351+1G>A essential splice site 2Pathogenic (1)Pathogenic (1)0.000000
144. c.373G>T p.A125Smissense 2VUS (1)VUS (1)0.000000
145. c.2723A>G p.Y908Cmissense 1VUS (1)0.000062
146. c.3580G>A p.A1194Tmissense 1VUS (1)0.000008
147. c.3335G>A p.W1112Xnonsense 1Pathogenic (1)0.000000
148. c.1188G>T p.W396Cmissense 1VUS (1)0.000000
149. c.1699_1700delGA p.Glu567GlyfsX4frameshift 1Pathogenic (1)0.000000
150. c.*26+2T>C essential splice site 1Likely Pathogenic (1)0.000000
151. c.481C>A p.P161Tmissense 1VUS favour pathogenic (1)0.000041
152. c.436A>C p.T146Pmissense 1VUS (1)0.000000
153. c.506-1G>T essential splice site 1Pathogenic (1)0.000000
154. c.326C>T p.A109Vmissense 1VUS (1)0.000000
155. c.2040_2041insT p.Val681CysfsX12frameshift 1Pathogenic (1)0.000000
156. c.1000G>T p.E334Xnonsense 1Pathogenic (1)0.000000
157. c.931T>A p.S311Tmissense 1VUS (1)0.000000
158. c.3166_3167insG p.Ala1056GlyfsX9frameshift 1Pathogenic (1)0.000000
159. c.3330+1G>C essential splice site 1Pathogenic (1)0.000000
160. c.3572C>T p.S1191Lmissense 1VUS (1)0.000016
161. c.2747G>A p.W916Xnonsense 1Pathogenic (1)0.000000
162. c.3739G>A p.D1247Nmissense 1VUS (1)0.000000
163. c.3656T>C p.L1219Pmissense 1VUS (1)0.000000
164. c.2394_2395insT p.Gly799TrpfsX34frameshift 1Pathogenic (1)0.000000
165. c.3043dup p.Ala1015Glyfs*36frameshift 1Pathogenic (1)0.000000
166. c.3019T>C p.W1007Rmissense 1VUS (1)0.000000
167. c.2807dup p.Ala938Glyfs*113frameshift 1Pathogenic (1)0.000000
168. c.1624+1G>A essential splice site 1Pathogenic (1)0.000000
169. c.2909G>A p.R970Qmissense 1Likely Pathogenic (1)0.000032
170. c.3476_3479dupTTAT p.Pro1161TyrfsX9frameshift 1Pathogenic (1)0.000000
171. c.2429_2503delins23 p.Arg810Profs*10frameshift 1Pathogenic (1)0.000000
172. c.3206C>A p.P1069Hmissense 1Likely Pathogenic (1)0.000000
173. c.2030C>T p.P677Lmissense 1VUS (1)0.000000
174. c.3257G>A p.W1086Xnonsense 1Pathogenic (1)0.000021
175. c.2965G>T p.E989Xnonsense 1Pathogenic (1)0.000000
176. c.2690_2696del p.Gly897Glufs*25frameshift 1Pathogenic (1)0.000000
177. c.2188del p.Thr730Profs*24frameshift 1Pathogenic (1)0.000000
178. c.1797del p.His599Glnfs*3frameshift 1Pathogenic (1)0.000000
179. c.1291G>A p.D431Nmissense 1VUS (1)0.000028
180. c.1231A>G p.I411Vmissense 1VUS (1)0.000000
181. c.2247C>A p.Y749Xnonsense 1Pathogenic (1)0.000000
182. c.631G>A p.D211Nmissense 1VUS (1)0.000009
183. c.1455A>T p.K485Nmissense 1VUS (1)0.000000
184. c.982delG frameshift 1Pathogenic (1)0.000000
185. c.1397T>A p.M466Kmissense 1VUS (1)0.000008
186. c.711C>A p.Y237Xnonsense 1Pathogenic (1)0.000000
187. c.655-1G>A essential splice site 1Pathogenic (1)0.000000
188. c.2993A>G p.Q998Rmissense 1VUS favour pathogenic (1)0.000000
189. c.731del p.Lys244Argfs*56frameshift 1Pathogenic (1)0.000000
190. c.177dup p.Glu60Argfs*53frameshift 1Pathogenic (1)0.000000
191. c.1120C>T p.Q374Xnonsense 1Pathogenic (1)0.000000
192. c.146_148delTCA p.Ile49delinframe 1VUS (1)0.000039
193. c.932C>T p.S311Lmissense 1VUS (1)0.000000
194. c.391dup p.Ala131Glyfs*22frameshift 1Pathogenic (1)0.000000
195. c.1352_1353del p.Glu451Alafs*23frameshift 1Pathogenic (1)0.000000
196. c.2671C>T p.R891Wmissense 1Likely Pathogenic (1)0.000031
197. c.3776delA frameshift 1Pathogenic (1)0.000000
198. c.1A>T p.Met1?missense 1Likely Pathogenic (1)0.000000
199. c.2828G>A p.R943Qmissense 1VUS (1)0.000025
200. c.241G>T p.V81Fmissense 1VUS (1)0.000000
201. c.1892delT frameshift 1Pathogenic (1)0.000000
202. c.3815-1G>A essential splice site 1Pathogenic (1)0.000000
203. c.2833_2834delCG frameshift 1Pathogenic (1)0.000000
204. c.104G>A p.R35Qmissense 1VUS (1)0.000079
205. c.3753T>G p.Y1251Xnonsense 1Pathogenic (1)0.000000
206. c.3825A>G p.X1275TrpextX77nonsense 1Likely Pathogenic (1)0.000000
207. c.451G>A p.D151Nmissense 1VUS (1)0.000041
208. c.2641G>A p.V881Imissense 1VUS (1)0.000018
209. c.2939G>A p.R980Hmissense 1VUS (1)0.000000
210. c.1458-1G>A essential splice site 1Pathogenic (1)0.000000
211. c.3713T>C p.L1238Pmissense 1Likely Pathogenic (1)0.000000
212. c.518C>A p.T173Nmissense 1VUS (1)0.000000
213. c.3357C>A p.Y1119Xnonsense 1Pathogenic (1)0.000000
214. c.3605delG frameshift 1Pathogenic (1)0.000000
215. c.1950C>G p.D650Emissense 1VUS (1)0.000000
216. c.3452C>T p.A1151Vmissense 1VUS (1)0.000078
217. c.2718_2719dup p.Glu907Glyfs*18frameshift 1Pathogenic (1)0.000000
218. c.2504G>T p.R835Lmissense 1Likely Pathogenic (1)0.000074
219. c.3614G>A p.R1205Qmissense 1VUS (1)0.000016
220. c.551_552insT p.Lys185GlufsX56frameshift 1Pathogenic (1)0.000000
221. c.2541C>A p.Y847Xnonsense 1Pathogenic (1)0.000000
222. c.3331-1G>A essential splice site 1Pathogenic (1)0.000000
223. c.2249C>T p.T750Mmissense 1Likely Pathogenic (1)0.000024
224. c.1789C>T p.R597Wmissense 1VUS (1)0.000038
225. c.1458G>A p.W486Xnonsense 1Pathogenic (1)0.000000
226. c.2584C>T p.Q862Xnonsense 1Pathogenic (1)0.000000
227. c.1021G>C p.G341Rmissense 1VUS (1)0.000000
228. c.1505G>T p.R502Lmissense 1VUS favour pathogenic (1)0.000000
229. c.2065C>T p.Q689Xnonsense 1Pathogenic (1)0.000000
230. c.1377delC frameshift 1Pathogenic (1)0.000000
231. c.2048G>A p.W683Xnonsense 1Pathogenic (1)0.000000
232. c.2371C>T p.Q791Xnonsense 1Pathogenic (1)0.000000
233. c.1201C>T p.Q401Xnonsense 1Pathogenic (1)0.000000
234. c.188G>A p.R63Qmissense 1VUS (1)0.000039
235. c.3288delG frameshift 1Pathogenic (1)0.000000
236. c.1376_1377del p.Pro459Leufs*15frameshift 1Pathogenic (1)0.000000
237. c.799C>G p.L267Vmissense 1VUS (1)0.000080
238. c.821+2T>G essential splice site 1Pathogenic (1)0.000000
239. c.1569dup p.His524Alafs*7frameshift 1Pathogenic (1)0.000000
240. c.1112C>T p.P371Lmissense 1VUS (1)0.000028
241. c.713G>A p.R238Hmissense 1VUS (1)0.000074
242. c.100_110dup p.Val38Serfs*5frameshift 1Pathogenic (1)0.000000
243. c.2560A>G p.M854Vmissense 1VUS (1)0.000000
244. c.1156G>T p.E386Xnonsense 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.3065G>A p.R1022Hmissense 1VUS favour pathogenic (1)0.000000
248. c.3746G>T p.G1249Vmissense 1VUS (1)0.000000
249. c.2905+1G>C essential splice site 1Pathogenic (1)0.000000
250. c.3098G>A p.R1033Qmissense 1VUS (1)0.000000
251. c.1628delA frameshift 1Pathogenic (1)0.000000
252. c.2610_2611insC p.Ser871GlnfsX13frameshift 1Pathogenic (1)0.000000
253. c.1778C>T p.S593Fmissense 1VUS favour pathogenic (1)0.000034
254. c.3281A>T p.N1094Imissense 1VUS (1)0.000000
255. c.1351+2T>C essential splice site 1Pathogenic (1)0.000000
256. c.1418T>C p.F473Smissense 1VUS (1)0.000000
257. c.3068_3069insA p.Asn1023LysfsX28frameshift 1Pathogenic (1)0.000000
258. c.853G>A p.D285Nmissense 1VUS (1)0.000000
259. c.3694A>T p.K1232Xnonsense 1Pathogenic (1)0.000000
260. c.2113_2114insA p.Thr705AsnfsX3frameshift 1Pathogenic (1)0.000000
261. c.2437A>T p.K813Xnonsense 1Pathogenic (1)0.000000
262. c.2968C>G p.P990Amissense 1Likely Pathogenic (1)0.000000
263. c.3413G>C p.R1138Pmissense 1VUS (1)0.000000
264. c.3316del p.Asp1106Thrfs*83frameshift 1Pathogenic (1)0.000000
265. c.2312T>C p.V771Amissense 1VUS (1)0.000000
266. c.3490+1G>A essential splice site 1Pathogenic (1)0.000000
267. c.2875_2876delAC p.Thr959GlyfsX91frameshift 1Pathogenic (1)0.000000
268. c.2738-2A>G essential splice site 1Pathogenic (1)0.000000
269. c.3728C>G p.P1243Rmissense 1VUS (1)0.000000
270. c.3690_3691delCA p.Phe1230LeufsX11frameshift 1Pathogenic (1)0.000000
271. c.993_994insT p.E332Xnonsense 1Pathogenic (1)0.000000
272. c.2161_2168del p.Thr721Profs*23frameshift 1Pathogenic (1)0.000000
273. c.2789del p.Leu930Argfs*2frameshift 1Pathogenic (1)0.000000
274. c.1471G>A p.V491Mmissense 1VUS (1)0.000058
275. c.2502del p.Arg835Alafs*2frameshift 1Pathogenic (1)0.000000
276. c.1898-1G>A essential splice site 1Pathogenic (1)0.000000
277. c.2603-2_2603-1delinsGA essential splice site 1Pathogenic (1)0.000000
278. c.2304_2308+2delCATCGGT essential splice site 1Pathogenic (1)0.000000
279. c.1080G>C p.K360Nmissense 1VUS (1)0.000000
280. c.1756C>G p.P586Amissense 1Likely Pathogenic (1)0.000000
281. c.1153G>A p.V385Mmissense 1VUS (1)0.000010
282. c.1693A>T p.K565Xnonsense 1Pathogenic (1)0.000000
283. c.1224-1G>T essential splice site 1Pathogenic (1)0.000000
284. c.2234A>G p.D745Gmissense 1VUS (1)0.000000
285. c.1685C>T p.A562Vmissense 1VUS (1)0.000008
286. c.1405C>T p.Q469Xnonsense 1Pathogenic (1)0.000000
287. c.1591G>C p.G531Rmissense 1VUS favour pathogenic (1)0.000017
288. c.365C>A p.A122Dmissense 1VUS (1)0.000000
289. c.1540A>G p.I514Vmissense 1VUS (1)0.000008
290. c.1575T>G p.Y525Xnonsense 1Pathogenic (1)0.000000
291. c.701C>A p.T234Nmissense 1Likely Pathogenic (1)0.000000
292. c.1097A>C p.Q366Pmissense 1VUS (1)0.000000
293. c.148A>G p.S50Gmissense 1VUS (1)0.000038
294. c.3049G>A p.E1017Kmissense 1VUS favour benign (1)0.000085
295. c.1224-2A>G essential splice site 1Pathogenic (1)0.000000
296. c.2163delC p.Glu722ArgfsX32frameshift 1Pathogenic (1)0.000000
297. c.211_212delinsTA p.Val71*frameshift 1Pathogenic (1)0.000000
298. c.2938C>T p.R980Cmissense 1VUS (1)0.000062
299. c.2170C>T p.R724Wmissense 1VUS (1)0.000019
300. c.3735delC frameshift 1Likely Pathogenic (1)0.000000
301. c.2533C>T p.R845Cmissense 1VUS favour pathogenic (1)0.000000
302. c.1358C>T p.P453Lmissense 1VUS (1)0.000008
303. c.431_432delGT p.Gly144AlafsX8frameshift 1Pathogenic (1)0.000000
304. c.1294G>A p.A432Tmissense 1VUS (1)0.000037
305. c.2525A>G p.Y842Cmissense 1VUS (1)0.000000
306. c.2013_2016delinsGG p.Pro672AspfsX20frameshift 1Pathogenic (1)0.000000
307. c.3G>C p.Met1?missense 1Likely Pathogenic (1)0.000000
308. c.2557G>A p.G853Smissense 1VUS (1)0.000008
309. c.2436G>T p.K812Nmissense 1VUS (1)0.000000
310. c.2737+2T>A essential splice site 1Pathogenic (1)0.000000
311. c.3605G>A p.C1202Ymissense 1Likely Pathogenic (1)0.000000
312. c.1960C>T p.R654Cmissense 1VUS favour benign (1)0.000008
313. c.566T>A p.V189Dmissense 1VUS (1)0.000000
314. c.3040delC p.Leu1014TrpfsX6frameshift 1Pathogenic (1)0.000000
315. c.3334_3351del p.Trp1112_Glu1117delinframe 1Likely Pathogenic (1)0.000000
316. c.2512dup p.Glu838Glyfs*46frameshift 1Pathogenic (1)0.000000
317. c.3256T>C p.W1086Rmissense 1VUS (1)0.000000
318. c.2198G>A p.R733Hmissense 1VUS (1)0.000034
319. c.3316G>A p.D1106Nmissense 1VUS (1)0.000061
320. c.2708G>A p.G903Dmissense 1Likely Pathogenic (1)0.000000
321. c.2503C>T p.R835Cmissense 1VUS (1)0.000024
322. c.613C>T p.Q205Xnonsense 1Pathogenic (1)0.000000
323. c.2308+1G>T essential splice site 1Pathogenic (1)0.000000
324. c.2834G>A p.R945Qmissense 1VUS (1)0.000000
325. c.3332_3335dupAGTG p.W1112Xnonsense 1Pathogenic (1)0.000000
326. c.1624+2T>C essential splice site 1Pathogenic (1)0.000000
327. c.1266_1267insTGAT p.Ile423*frameshift 1Pathogenic (1)0.000000
328. c.1168delC frameshift 1Pathogenic (1)0.000000
329. c.1457G>A p.W486Xnonsense 1Pathogenic (1)0.000000
330. c.994G>A p.E332Kmissense 1VUS (1)0.000009
331. c.2265C>A p.N755Kmissense 1Pathogenic (1)0.000000
332. c.1535T>A p.L512Qmissense 1VUS favour pathogenic (1)0.000000
333. c.1303C>T p.Q435Xnonsense 1Pathogenic (1)0.000000
334. c.1174G>T p.A392Smissense 1VUS (1)0.000000
335. c.187C>T p.R63Wmissense 1VUS (1)0.000077
336. c.3742G>A p.G1248Rmissense 1VUS (1)0.000033
337. c.1359del p.Val454Cysfs*12frameshift 1Pathogenic (1)0.000000
338. c.743_746delACTG frameshift 1Pathogenic (1)0.000000
339. c.1343T>C p.F448Smissense 1Likely Pathogenic (1)0.000000
340. c.1586C>G p.T529Smissense 1VUS favour pathogenic (1)0.000000
341. c.553_562del p.Lys185Trpfs*12frameshift 1Pathogenic (1)0.000000
342. c.103C>T p.R35Wmissense 1VUS (1)0.000056
343. c.1924C>T p.Q642Xnonsense 1Pathogenic (1)0.000000
344. c.2654C>T p.T885Mmissense 1VUS (1)0.000022
345. c.255del p.Ser86Profs*10frameshift 1Pathogenic (1)0.000000
346. c.3548T>G p.F1183Cmissense 1Likely Pathogenic (1)0.000000
347. c.3791G>A p.C1264Ymissense 1VUS (1)0.000008
348. c.966G>A p.W322Xnonsense 1Pathogenic (1)0.000000
349. c.2737+1G>C essential splice site 1Pathogenic (1)0.000000
350. c.2517_2538del p.Val840ThrfsX32frameshift 1Pathogenic (1)0.000000
351. c.2149-1G>A essential splice site 1Pathogenic (1)0.000000
352. c.821+1G>C essential splice site 1Pathogenic (1)0.000000
353. c.223G>A p.D75Nmissense 1VUS favour pathogenic (1)0.000091
354. c.1678delG p.Asp560ThrfsX19frameshift 1Pathogenic (1)0.000000
355. c.3364A>T p.T1122Smissense 1Likely Pathogenic (1)0.000000
356. c.3792_3793del p.Cys1264*frameshift 1Likely Pathogenic (1)0.000000
357. c.3614G>C p.R1205Pmissense 1Likely Pathogenic (1)0.000000
358. c.3617delG frameshift 1Pathogenic (1)0.000000
359. c.533delT p.Val178GlyfsX7frameshift 1Pathogenic (1)0.000000
360. c.2524_2525insT p.Tyr842LeufsX42frameshift 1Pathogenic (1)0.000000
361. c.2953A>G p.K985Emissense 1Pathogenic (1)0.000000
362. c.2995-1G>A essential splice site 1Pathogenic (1)0.000000
363. c.333_334insT p.E112Xnonsense 1Pathogenic (1)0.000000
364. c.3297dup p.Tyr1100Valfs*49frameshift 1Pathogenic (1)0.000000
365. c.2906-2A>G essential splice site 1Pathogenic (1)0.000000
366. c.2149_2737del p.Leu717Alafs*11frameshift 1Pathogenic (1)0.000000
367. c.1523_1525delinsT p.Gln508Leufs*22frameshift 1Pathogenic (1)0.000000
368. c.2603-1G>C essential splice site 1Pathogenic (1)0.000000
369. c.1072G>A p.D358Nmissense 1VUS (1)0.000008
370. c.2054_2067+11del p.Lys685Argfs*3frameshift 1Pathogenic (1)0.000000
371. c.2748G>A p.W916Xnonsense 1Pathogenic (1)0.000000
372. c.1433C>T p.S478Lmissense 1Likely Pathogenic (1)0.000017
373. c.1800delA frameshift 1Pathogenic (1)0.000000
374. c.2381C>A p.P794Qmissense 1VUS (1)0.000000
375. c.1404del p.Gln469Serfs*19frameshift 1Pathogenic (1)0.000000
376. c.811_817delTTCCGCC frameshift 1Pathogenic (1)0.000000
377. c.1021_1028del p.Gly341*frameshift 1Pathogenic (1)0.000000
378. c.1731G>C p.W577Cmissense 1VUS (1)0.000000
379. c.1223+2T>C essential splice site 1Pathogenic (1)0.000000
380. c.506-1G>A essential splice site 1Pathogenic (1)0.000000
381. c.1090+2T>C essential splice site 1Pathogenic (1)0.000000
382. c.2518G>A p.V840Mmissense 1VUS (1)0.000016
383. c.49C>T p.R17Wmissense 1VUS (1)0.000023
384. c.351_352del p.Gly118Argfs*8frameshift 1Pathogenic (1)0.000000
385. c.1672G>A p.A558Tmissense 1VUS (1)0.000008
386. c.655-2del essential splice site 1Pathogenic (1)0.000000
387. c.121dup p.Arg41Profs*8frameshift 1Pathogenic (1)0.000000
388. c.2780_2781delCA frameshift 1Pathogenic (1)0.000000
389. c.3083C>G p.T1028Smissense 1VUS (1)0.000000
390. c.2528_2536delAGATGCGCG p.Glu843_Arg845delinframe 1Pathogenic (1)0.000000
391. c.3415G>A p.V1139Imissense 1VUS (1)0.000087
392. c.3476_3477delTT frameshift 1Pathogenic (1)0.000000
393. c.3797G>A p.C1266Ymissense 1Likely Pathogenic (1)0.000000
394. c.290C>T p.A97Vmissense 1VUS favour 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.