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

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.