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