MYBPC3 protein-altering 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 class	LMM class	ExAC frequency
1.	c.1504C>T	p.R502W	missense	104	Pathogenic (59)	Pathogenic (45)	0.000024
2.	c.772G>A	p.E258K	missense	68	Pathogenic (47)	Pathogenic (21)	0.000039
3.	c.2373_2374insG	p.Trp792ValfsTer41	frameshift	66	Pathogenic (40)	Pathogenic (26)	0.000037
4.	c.1624G>C	p.E542Q	missense	41	Pathogenic (24)	Likely Pathogenic (17)	0.000024
5.	c.1928-2A>G		essential splice site	30	Pathogenic (10)	Pathogenic (20)	0.000000
6.	c.655G>C	p.V219L	missense	26	Likely Pathogenic (18)	Likely Pathogenic (8)	0.000000
7.	c.2429G>A	p.R810H	missense	19	VUS (11)	VUS favour pathogenic (8)	0.000033
8.	c.2096delC		frameshift	19	Pathogenic (15)	Pathogenic (4)	0.000000
9.	c.3226_3227insT		frameshift	18	Pathogenic (12)	Pathogenic (6)	0.000000
10.	c.2827C>T	p.R943X	nonsense	18	Pathogenic (11)	Pathogenic (7)	0.000017
11.	c.2864_2865delCT		frameshift	14	Pathogenic (8)	Pathogenic (6)	0.000000
12.	c.1484G>A	p.R495Q	missense	14	Likely Pathogenic (4)	VUS favour pathogenic (10)	0.000008
13.	c.1483C>G	p.R495G	missense	14	Likely Pathogenic (10)	Likely Pathogenic (4)	0.000000
14.	c.3697C>T	p.Q1233X	nonsense	13	Likely Pathogenic (4)	Pathogenic (9)	0.000008
15.	c.3330+2T>G		essential splice site	11		Pathogenic (11)	0.000000
16.	c.2308G>A	p.D770N	missense	11	Likely Pathogenic (5)	Likely Pathogenic (6)	0.000008
17.	c.442G>A	p.G148R	missense	11	Likely Pathogenic (4)	VUS favour pathogenic (7)	0.000042
18.	c.927-2A>G		essential splice site	10	Pathogenic (8)	Pathogenic (2)	0.000000
19.	c.2604_2605delinsA	p.S871fs	frameshift	10	Pathogenic (8)	Pathogenic (2)	0.000000
20.	c.3613C>T	p.R1205W	missense	10	Likely Pathogenic (10)		0.000016
21.	c.3190+2T>G		essential splice site	9	Pathogenic (7)	Pathogenic (2)	0.000016
22.	c.3771C>A	p.N1257K	missense	9	Likely Pathogenic (9)		0.000000
23.	c.2309-2A>G		essential splice site	9		Pathogenic (9)	0.000000
24.	c.1505G>A	p.R502Q	missense	8	Pathogenic (2)	Pathogenic (6)	0.000000
25.	c.2490_2491insT	p.His831SerfsTer2	frameshift	8	Pathogenic (7)	Pathogenic (1)	0.000024
26.	c.3627+1G>A		essential splice site	8	Pathogenic (6)	Pathogenic (2)	0.000000
27.	c.2670G>A	p.W890X	nonsense	7		Pathogenic (7)	0.000000
28.	c.2905+1G>A		essential splice site	7	Pathogenic (3)	Pathogenic (4)	0.000000
29.	c.710A>C	p.Y237S	missense	6	Likely Pathogenic (3)	Likely Pathogenic (3)	0.000000
30.	c.3065G>C	p.R1022P	missense	6	Likely Pathogenic (5)	VUS favour pathogenic (1)	0.000025
31.	c.2573G>A	p.S858N	missense	6	Likely Pathogenic (2)	VUS favour pathogenic (4)	0.000000
32.	c.2459G>A	p.R820Q	missense	6	VUS (5)	Likely Pathogenic (1)	0.000016
33.	c.2374T>C	p.W792R	missense	5		Likely Pathogenic (5)	0.000000
34.	c.3064C>T	p.R1022C	missense	5	VUS (1)	VUS favour pathogenic (4)	0.000008
35.	c.1828G>A	p.D610N	missense	5	VUS (2)	VUS (3)	0.000000
36.	c.2905C>T	p.Q969X	nonsense	5	Pathogenic (2)	Pathogenic (3)	0.000000
37.	c.2267delC		frameshift	5	Pathogenic (5)		0.000000
38.	c.2556_2557delinsTCT	p.Gly853fs	frameshift	5	Pathogenic (4)	Pathogenic (1)	0.000000
39.	c.2610delC		frameshift	5	Pathogenic (5)		0.000000
40.	c.913_914delTT		frameshift	5		Pathogenic (5)	0.000000
41.	c.821+2T>C		essential splice site	5	Pathogenic (4)	Pathogenic (1)	0.000000
42.	c.821+1G>A		essential splice site	5	Pathogenic (1)	Pathogenic (4)	0.000043
43.	c.1591G>A	p.G531R	missense	4	Likely Pathogenic (1)	VUS favour pathogenic (3)	0.000017
44.	c.2454G>A	p.W818X	nonsense	4		Pathogenic (4)	0.000000
45.	c.3277G>T	p.G1093C	missense	4	VUS (3)	VUS (1)	0.000020
46.	c.3286G>T	p.E1096X	nonsense	4	Pathogenic (3)	Pathogenic (1)	0.000000
47.	c.484C>T	p.Q162X	nonsense	4	Pathogenic (4)		0.000000
48.	c.1483C>T	p.R495W	missense	4	Likely Pathogenic (2)	VUS favour pathogenic (2)	0.000000
49.	c.3798C>G	p.C1266W	missense	4	VUS (4)		0.000000
50.	c.2210C>T	p.T737M	missense	4	VUS (3)	VUS (1)	0.000050
51.	c.3408C>A	p.Y1136X	nonsense	4	Pathogenic (3)	Pathogenic (1)	0.000000
52.	c.3763G>A	p.A1255T	missense	4	VUS (3)	VUS favour pathogenic (1)	0.000075
53.	c.3163A>T	p.K1055X	nonsense	4	Pathogenic (4)		0.000000
54.	c.2182G>T	p.E728X	nonsense	4		Pathogenic (4)	0.000000
55.	c.3181C>T	p.Q1061X	nonsense	4	Pathogenic (3)	Pathogenic (1)	0.000016
56.	c.26-2A>G		essential splice site	4		Pathogenic (4)	0.000051
57.	c.2873C>T	p.T958I	missense	4	VUS (1)	VUS favour benign (3)	0.000065
58.	c.3742_3759dup	p.Gly1248_Cys1253dup	inframe	4		Likely Pathogenic (4)	0.000000
59.	c.2311_2312insG	p.Val771GlyfsX62	frameshift	3		Pathogenic (3)	0.000000
60.	c.3767_3769delCCA	p.Thr1256del	inframe	3		Likely Pathogenic (3)	0.000000
61.	c.1790G>A	p.R597Q	missense	3	VUS (1)	VUS favour pathogenic (2)	0.000000
62.	c.3600_3609delCTGCTGTGCT		frameshift	3	Pathogenic (3)	Pathogenic (0)	0.000000
63.	c.833delG	p.Gly278GlufsX22	frameshift	3	Pathogenic (2)	Pathogenic (1)	0.000000
64.	c.2450G>A	p.R817Q	missense	3		VUS favour pathogenic (3)	0.000016
65.	c.3190+1G>A		essential splice site	3		Pathogenic (3)	0.000000
66.	c.2558delG		frameshift	3	Pathogenic (1)	Pathogenic (2)	0.000000
67.	c.1037G>A	p.R346H	missense	3	VUS (1)	VUS (2)	0.000000
68.	c.3233G>A	p.W1078X	nonsense	3		Pathogenic (3)	0.000022
69.	c.3129C>A	p.Y1043X	nonsense	3	Pathogenic (3)		0.000000
70.	c.772+1G>A		essential splice site	3	Pathogenic (1)	Pathogenic (2)	0.000000
71.	c.2309-1G>A		essential splice site	3	Pathogenic (3)		0.000000
72.	c.2545del	p.Val849Serfs*30	frameshift	3	Pathogenic (3)		0.000000
73.	c.177_187del	p.Glu60AlafsX49	frameshift	3	Pathogenic (2)	Pathogenic (1)	0.000000
74.	c.2920C>T	p.Q974X	nonsense	3		Pathogenic (3)	0.000000
75.	c.532G>A	p.V178M	missense	3	VUS (1)	VUS favour pathogenic (2)	0.000020
76.	c.3624delC		frameshift	3	Pathogenic (1)	Pathogenic (2)	0.000000
77.	c.355G>A	p.E119K	missense	3		VUS (3)	0.000000
78.	c.1123G>A	p.V375M	missense	3	VUS (3)		0.000009
79.	c.3491-2A>T		essential splice site	3		Pathogenic (3)	0.000000
80.	c.1828G>C	p.D610H	missense	3	VUS (1)	VUS favour benign (2)	0.000058
81.	c.2308+1G>A		essential splice site	3	Pathogenic (2)	Pathogenic (1)	0.000000
82.	c.1720C>T	p.R574W	missense	3	VUS (3)		0.000054
83.	c.1863delC	p.Phe621LeufsX42	frameshift	2		Pathogenic (2)	0.000000
84.	c.3811C>T	p.R1271X	nonsense	2	VUS (1)	Pathogenic (1)	0.000025
85.	c.1213A>G	p.M405V	missense	2	VUS (1)	Pathogenic (1)	0.000000
86.	c.1841A>G	p.Y614C	missense	2	VUS (1)	VUS favour pathogenic (1)	0.000000
87.	c.2953A>T	p.K985X	nonsense	2	Pathogenic (1)	Pathogenic (1)	0.000000
88.	c.2449C>T	p.R817W	missense	2	VUS (1)	VUS (1)	0.000000
89.	c.3752A>G	p.Y1251C	missense	2	VUS (2)		0.000000
90.	c.2524dup	p.Tyr842Leufs*42	frameshift	2	Pathogenic (2)		0.000000
91.	c.3271del	p.Asp1091Metfs*98	frameshift	2	Pathogenic (2)		0.000000
92.	c.3373G>A	p.V1125M	missense	2	VUS (1)	VUS favour pathogenic (1)	0.000022
93.	c.3455_3466del	p.Ala1152_Lys1155del	inframe	2	Likely Pathogenic (2)		0.000000
94.	c.2905+2dup		essential splice site	2	Likely Pathogenic (2)		0.000000
95.	c.2534_2538delGCGTC		frameshift	2	Pathogenic (1)	Pathogenic (1)	0.000000
96.	c.3192_3193insC	p.Lys1065GlnfsX12	frameshift	2		Pathogenic (2)	0.000000
97.	c.3624_3625insC	p.Lys1209GlnfsX33	frameshift	2		Pathogenic (2)	0.000000
98.	c.1090+1G>A		essential splice site	2	Pathogenic (1)	Pathogenic (1)	0.000000
99.	c.2943_2947delGACCA		frameshift	2		Pathogenic (2)	0.000000
100.	c.999C>G	p.Y333X	nonsense	2		Pathogenic (2)	0.000000
101.	c.1766G>A	p.R589H	missense	2		VUS (2)	0.000000
102.	c.3627+1G>T		essential splice site	2	Pathogenic (2)		0.000000
103.	c.3005G>A	p.R1002Q	missense	2	VUS (2)		0.000046
104.	c.373G>T	p.A125S	missense	2	VUS (1)	VUS (1)	0.000000
105.	c.2219G>C	p.G740A	missense	2	VUS (2)		0.000000
106.	c.557C>T	p.P186L	missense	2	VUS (2)		0.000047
107.	c.818G>A	p.R273H	missense	2	VUS (2)		0.000042
108.	c.844C>T	p.R282W	missense	2	Likely Pathogenic (1)	VUS favour pathogenic (1)	0.000000
109.	c.1999_2000delinsG	p.Leu667AspfsX15	frameshift	2	Pathogenic (1)	Pathogenic (1)	0.000000
110.	c.126G>A	p.W42X	nonsense	2	Pathogenic (2)		0.000000
111.	c.1895delT	p.Met632ArgfsX31	frameshift	2		Pathogenic (2)	0.000000
112.	c.1038_1042dupCGGCA		frameshift	2	Pathogenic (1)	Pathogenic (1)	0.000008
113.	c.459delC		frameshift	2	Pathogenic (1)	Pathogenic (1)	0.000000
114.	c.2882C>T	p.P961L	missense	2		VUS (2)	0.000048
115.	c.3582_3593delGGGCTACACTGC		inframe	2	Likely Pathogenic (1)		0.000000
116.	c.2197C>T	p.R733C	missense	2	Likely Pathogenic (1)	VUS (1)	0.000085
117.	c.3751T>C	p.Y1251H	missense	2	VUS (2)		0.000000
118.	c.2269G>A	p.V757M	missense	2	VUS (1)	VUS (1)	0.000066
119.	c.1886T>C	p.L629P	missense	2	VUS (2)		0.000000
120.	c.747C>A	p.C249X	nonsense	2	Pathogenic (2)		0.000000
121.	c.443dup	p.Ala149Serfs*4	frameshift	2	Pathogenic (2)		0.000000
122.	c.1210C>T	p.Q404X	nonsense	2		Pathogenic (2)	0.000000
123.	c.932C>A	p.S311X	nonsense	2	Pathogenic (1)	Pathogenic (1)	0.000000
124.	c.25+1G>A		essential splice site	2	Pathogenic (2)		0.000000
125.	c.436_437insA	p.Thr146AsnfsX7	frameshift	2		Pathogenic (2)	0.000000
126.	c.1869C>A	p.C623X	nonsense	2		Pathogenic (2)	0.000000
127.	c.1934C>T	p.P645L	missense	2		VUS (2)	0.000000
128.	c.814C>T	p.R272C	missense	2		VUS (2)	0.000083
129.	c.3470C>T	p.P1157L	missense	2	VUS (2)		0.000093
130.	c.2526C>G	p.Y842X	nonsense	2	Pathogenic (2)		0.000000
131.	c.2320G>A	p.A774T	missense	2		VUS (2)	0.000000
132.	c.2300A>G	p.K767R	missense	2	VUS (2)		0.000016
133.	c.1513_1515delAAG		inframe	2		VUS favour pathogenic (2)	0.000000
134.	c.1273C>T	p.Q425X	nonsense	2	Pathogenic (1)	Pathogenic (1)	0.000000
135.	c.636C>G	p.S212R	missense	2		VUS favour pathogenic (2)	0.000000
136.	c.1090+1G>T		essential splice site	2	Pathogenic (1)	Pathogenic (1)	0.000000
137.	c.3253G>T	p.E1085X	nonsense	2	Pathogenic (1)	Pathogenic (1)	0.000000
138.	c.1897+1G>A		essential splice site	2		Pathogenic (2)	0.000000
139.	c.1456T>G	p.W486G	missense	2	VUS (1)	Likely Pathogenic (1)	0.000000
140.	c.1351+1G>A		essential splice site	2	Pathogenic (1)	Pathogenic (1)	0.000000
141.	c.1021G>A	p.G341S	missense	2	VUS (1)	VUS favour pathogenic (1)	0.000025
142.	c.3676C>T	p.R1226C	missense	2	VUS (1)	VUS (1)	0.000058
143.	c.2432A>G	p.K811R	missense	2	VUS (2)		0.000000
144.	c.1357_1358delCC		frameshift	2		Pathogenic (2)	0.000000
145.	c.391dup	p.Ala131Glyfs*22	frameshift	1	Pathogenic (1)		0.000000
146.	c.3040delC	p.Leu1014TrpfsX6	frameshift	1		Pathogenic (1)	0.000000
147.	c.1352_1353del	p.Glu451Alafs*23	frameshift	1	Pathogenic (1)		0.000000
148.	c.711C>A	p.Y237X	nonsense	1	Pathogenic (1)		0.000000
149.	c.731del	p.Lys244Argfs*56	frameshift	1	Pathogenic (1)		0.000000
150.	c.655-1G>A		essential splice site	1		Pathogenic (1)	0.000000
151.	c.2737+2T>A		essential splice site	1		Pathogenic (1)	0.000000
152.	c.2993A>G	p.Q998R	missense	1		VUS favour pathogenic (1)	0.000000
153.	c.3605G>A	p.C1202Y	missense	1		Likely Pathogenic (1)	0.000000
154.	c.177dup	p.Glu60Argfs*53	frameshift	1	Pathogenic (1)		0.000000
155.	c.1120C>T	p.Q374X	nonsense	1	Pathogenic (1)		0.000000
156.	c.146_148delTCA	p.Ile49del	inframe	1	VUS (1)		0.000039
157.	c.613C>T	p.Q205X	nonsense	1		Pathogenic (1)	0.000000
158.	c.3776delA		frameshift	1		Pathogenic (1)	0.000000
159.	c.241G>T	p.V81F	missense	1	VUS (1)		0.000000
160.	c.3332_3335dupAGTG	p.W1112X	nonsense	1		Pathogenic (1)	0.000000
161.	c.2671C>T	p.R891W	missense	1		Likely Pathogenic (1)	0.000031
162.	c.1A>T	p.Met1?	missense	1	Likely Pathogenic (1)		0.000000
163.	c.2641G>A	p.V881I	missense	1		VUS (1)	0.000018
164.	c.2939G>A	p.R980H	missense	1		VUS (1)	0.000000
165.	c.1535T>A	p.L512Q	missense	1		VUS favour pathogenic (1)	0.000000
166.	c.3815-1G>A		essential splice site	1		Pathogenic (1)	0.000000
167.	c.1892delT		frameshift	1		Pathogenic (1)	0.000000
168.	c.3753T>G	p.Y1251X	nonsense	1		Pathogenic (1)	0.000000
169.	c.3357C>A	p.Y1119X	nonsense	1	Pathogenic (1)		0.000000
170.	c.3605delG		frameshift	1	Pathogenic (1)		0.000000
171.	c.1950C>G	p.D650E	missense	1		VUS (1)	0.000000
172.	c.3713T>C	p.L1238P	missense	1	Likely Pathogenic (1)		0.000000
173.	c.3742G>A	p.G1248R	missense	1		VUS (1)	0.000033
174.	c.518C>A	p.T173N	missense	1		VUS (1)	0.000000
175.	c.2249C>T	p.T750M	missense	1	Likely Pathogenic (1)		0.000024
176.	c.3452C>T	p.A1151V	missense	1	VUS (1)		0.000078
177.	c.2718_2719dup	p.Glu907Glyfs*18	frameshift	1	Pathogenic (1)		0.000000
178.	c.2504G>T	p.R835L	missense	1	Likely Pathogenic (1)		0.000074
179.	c.103C>T	p.R35W	missense	1		VUS (1)	0.000056
180.	c.3614G>A	p.R1205Q	missense	1	VUS (1)		0.000016
181.	c.2654C>T	p.T885M	missense	1		VUS (1)	0.000022
182.	c.2737+1G>C		essential splice site	1		Pathogenic (1)	0.000000
183.	c.1377delC		frameshift	1	Pathogenic (1)		0.000000
184.	c.2371C>T	p.Q791X	nonsense	1	Pathogenic (1)		0.000000
185.	c.2048G>A	p.W683X	nonsense	1		Pathogenic (1)	0.000000
186.	c.1789C>T	p.R597W	missense	1	VUS (1)		0.000038
187.	c.1458G>A	p.W486X	nonsense	1	Pathogenic (1)		0.000000
188.	c.2584C>T	p.Q862X	nonsense	1	Pathogenic (1)		0.000000
189.	c.1021G>C	p.G341R	missense	1	VUS (1)		0.000000
190.	c.3791G>A	p.C1264Y	missense	1		VUS (1)	0.000008
191.	c.2065C>T	p.Q689X	nonsense	1	Pathogenic (1)		0.000000
192.	c.821+2T>G		essential splice site	1	Pathogenic (1)		0.000000
193.	c.1569dup	p.His524Alafs*7	frameshift	1	Pathogenic (1)		0.000000
194.	c.1112C>T	p.P371L	missense	1	VUS (1)		0.000028
195.	c.1201C>T	p.Q401X	nonsense	1	Pathogenic (1)		0.000000
196.	c.2149-1G>A		essential splice site	1		Pathogenic (1)	0.000000
197.	c.188G>A	p.R63Q	missense	1	VUS (1)		0.000039
198.	c.821+1G>C		essential splice site	1		Pathogenic (1)	0.000000
199.	c.1376_1377del	p.Pro459Leufs*15	frameshift	1	Pathogenic (1)		0.000000
200.	c.3288delG		frameshift	1		Pathogenic (1)	0.000000
201.	c.1678delG	p.Asp560ThrfsX19	frameshift	1		Pathogenic (1)	0.000000
202.	c.799C>G	p.L267V	missense	1	VUS (1)		0.000080
203.	c.611_618delinsT	p.Gly204Valfs*94	frameshift	1	Pathogenic (1)		0.000000
204.	c.2906-2A>G		essential splice site	1		Pathogenic (1)	0.000000
205.	c.100_110dup	p.Val38Serfs*5	frameshift	1	Pathogenic (1)		0.000000
206.	c.533delT	p.Val178GlyfsX7	frameshift	1		Pathogenic (1)	0.000000
207.	c.2524_2525insT	p.Tyr842LeufsX42	frameshift	1		Pathogenic (1)	0.000000
208.	c.256_258del	p.Ser86del	inframe	1	VUS (1)		0.000000
209.	c.1156G>T	p.E386X	nonsense	1		Pathogenic (1)	0.000000
210.	c.333_334insT	p.E112X	nonsense	1		Pathogenic (1)	0.000000
211.	c.1628delA		frameshift	1		Pathogenic (1)	0.000000
212.	c.3065G>A	p.R1022H	missense	1		VUS favour pathogenic (1)	0.000000
213.	c.2610_2611insC	p.Ser871GlnfsX13	frameshift	1		Pathogenic (1)	0.000000
214.	c.853G>A	p.D285N	missense	1		VUS (1)	0.000000
215.	c.3694A>T	p.K1232X	nonsense	1		Pathogenic (1)	0.000000
216.	c.3281A>T	p.N1094I	missense	1		VUS (1)	0.000000
217.	c.1778C>T	p.S593F	missense	1		VUS favour pathogenic (1)	0.000034
218.	c.1418T>C	p.F473S	missense	1		VUS (1)	0.000000
219.	c.2738-2A>G		essential splice site	1	Pathogenic (1)		0.000000
220.	c.3728C>G	p.P1243R	missense	1	VUS (1)		0.000000
221.	c.2968C>G	p.P990A	missense	1	Likely Pathogenic (1)		0.000000
222.	c.2518G>A	p.V840M	missense	1		VUS (1)	0.000016
223.	c.3413G>C	p.R1138P	missense	1		VUS (1)	0.000000
224.	c.3316del	p.Asp1106Thrfs*83	frameshift	1	Pathogenic (1)		0.000000
225.	c.1672G>A	p.A558T	missense	1		VUS (1)	0.000008
226.	c.3490+1G>A		essential splice site	1	Pathogenic (1)		0.000000
227.	c.2312T>C	p.V771A	missense	1		VUS (1)	0.000000
228.	c.2603-2_2603-1delinsGA		essential splice site	1	Pathogenic (1)		0.000000
229.	c.2304_2308+2delCATCGGT		essential splice site	1	Pathogenic (1)		0.000000
230.	c.2161_2168del	p.Thr721Profs*23	frameshift	1	Pathogenic (1)		0.000000
231.	c.2789del	p.Leu930Argfs*2	frameshift	1	Pathogenic (1)		0.000000
232.	c.1471G>A	p.V491M	missense	1	VUS (1)		0.000058
233.	c.3083C>G	p.T1028S	missense	1		VUS (1)	0.000000
234.	c.2502del	p.Arg835Alafs*2	frameshift	1	Pathogenic (1)		0.000000
235.	c.3415G>A	p.V1139I	missense	1		VUS (1)	0.000087
236.	c.1898-1G>A		essential splice site	1	Pathogenic (1)		0.000000
237.	c.1693A>T	p.K565X	nonsense	1		Pathogenic (1)	0.000000
238.	c.1685C>T	p.A562V	missense	1	VUS (1)		0.000008
239.	c.1405C>T	p.Q469X	nonsense	1	Pathogenic (1)		0.000000
240.	c.1000G>T	p.E334X	nonsense	1		Pathogenic (1)	0.000000
241.	c.2723A>G	p.Y908C	missense	1		VUS (1)	0.000062
242.	c.1080G>C	p.K360N	missense	1	VUS (1)		0.000000
243.	c.1756C>G	p.P586A	missense	1	Likely Pathogenic (1)		0.000000
244.	c.1699_1700delGA	p.Glu567GlyfsX4	frameshift	1		Pathogenic (1)	0.000000
245.	c.1153G>A	p.V385M	missense	1	VUS (1)		0.000010
246.	c.1224-1G>T		essential splice site	1	Pathogenic (1)		0.000000
247.	c.1097A>C	p.Q366P	missense	1	VUS (1)		0.000000
248.	c.2394_2395insT	p.Gly799TrpfsX34	frameshift	1		Pathogenic (1)	0.000000
249.	c.148A>G	p.S50G	missense	1	VUS (1)		0.000038
250.	c.365C>A	p.A122D	missense	1	VUS (1)		0.000000
251.	c.3166_3167insG	p.Ala1056GlyfsX9	frameshift	1		Pathogenic (1)	0.000000
252.	c.1591G>C	p.G531R	missense	1		VUS favour pathogenic (1)	0.000017
253.	c.701C>A	p.T234N	missense	1	Likely Pathogenic (1)		0.000000
254.	c.1575T>G	p.Y525X	nonsense	1		Pathogenic (1)	0.000000
255.	c.2747G>A	p.W916X	nonsense	1		Pathogenic (1)	0.000000
256.	c.2163delC	p.Glu722ArgfsX32	frameshift	1		Pathogenic (1)	0.000000
257.	c.211_212delinsTA	p.Val71*	frameshift	1	Pathogenic (1)		0.000000
258.	c.1224-2A>G		essential splice site	1		Pathogenic (1)	0.000000
259.	c.3476_3479dupTTAT	p.Pro1161TyrfsX9	frameshift	1		Pathogenic (1)	0.000000
260.	c.2533C>T	p.R845C	missense	1		VUS favour pathogenic (1)	0.000000
261.	c.3735delC		frameshift	1		Likely Pathogenic (1)	0.000000
262.	c.2965G>T	p.E989X	nonsense	1		Pathogenic (1)	0.000000
263.	c.2013_2016delinsGG	p.Pro672AspfsX20	frameshift	1		Pathogenic (1)	0.000000
264.	c.431_432delGT	p.Gly144AlafsX8	frameshift	1		Pathogenic (1)	0.000000
265.	c.2525A>G	p.Y842C	missense	1		VUS (1)	0.000000
266.	c.932C>T	p.S311L	missense	1		VUS (1)	0.000000
267.	c.566T>A	p.V189D	missense	1		VUS (1)	0.000000
268.	c.3334_3351del	p.Trp1112_Glu1117del	inframe	1	Likely Pathogenic (1)		0.000000
269.	c.1397T>A	p.M466K	missense	1		VUS (1)	0.000008
270.	c.2436G>T	p.K812N	missense	1		VUS (1)	0.000000
271.	c.1960C>T	p.R654C	missense	1		VUS favour benign (1)	0.000008
272.	c.2834G>A	p.R945Q	missense	1	VUS (1)		0.000000
273.	c.2308+1G>T		essential splice site	1		Pathogenic (1)	0.000000
274.	c.2828G>A	p.R943Q	missense	1		VUS (1)	0.000025
275.	c.2512dup	p.Glu838Glyfs*46	frameshift	1	Pathogenic (1)		0.000000
276.	c.3256T>C	p.W1086R	missense	1	VUS (1)		0.000000
277.	c.2198G>A	p.R733H	missense	1	VUS (1)		0.000034
278.	c.3316G>A	p.D1106N	missense	1	VUS (1)		0.000061
279.	c.2708G>A	p.G903D	missense	1	Likely Pathogenic (1)		0.000000
280.	c.2503C>T	p.R835C	missense	1	VUS (1)		0.000024
281.	c.2265C>A	p.N755K	missense	1	Pathogenic (1)		0.000000
282.	c.1303C>T	p.Q435X	nonsense	1	Pathogenic (1)		0.000000
283.	c.1266_1267insTGAT	p.Ile423*	frameshift	1	Pathogenic (1)		0.000000
284.	c.1624+2T>C		essential splice site	1		Pathogenic (1)	0.000000
285.	c.104G>A	p.R35Q	missense	1		VUS (1)	0.000079
286.	c.2833_2834delCG		frameshift	1		Pathogenic (1)	0.000000
287.	c.1457G>A	p.W486X	nonsense	1	Pathogenic (1)		0.000000
288.	c.3825A>G	p.X1275TrpextX77	nonsense	1		Likely Pathogenic (1)	0.000000
289.	c.994G>A	p.E332K	missense	1	VUS (1)		0.000009
290.	c.1168delC		frameshift	1		Pathogenic (1)	0.000000
291.	c.451G>A	p.D151N	missense	1		VUS (1)	0.000041
292.	c.743_746delACTG		frameshift	1	Pathogenic (1)		0.000000
293.	c.1458-1G>A		essential splice site	1		Pathogenic (1)	0.000000
294.	c.1174G>T	p.A392S	missense	1	VUS (1)		0.000000
295.	c.187C>T	p.R63W	missense	1	VUS (1)		0.000077
296.	c.1359del	p.Val454Cysfs*12	frameshift	1	Pathogenic (1)		0.000000
297.	c.255del	p.Ser86Profs*10	frameshift	1	Pathogenic (1)		0.000000
298.	c.3331-1G>A		essential splice site	1		Pathogenic (1)	0.000000
299.	c.1586C>G	p.T529S	missense	1		VUS favour pathogenic (1)	0.000000
300.	c.553_562del	p.Lys185Trpfs*12	frameshift	1	Pathogenic (1)		0.000000
301.	c.1343T>C	p.F448S	missense	1		Likely Pathogenic (1)	0.000000
302.	c.1924C>T	p.Q642X	nonsense	1		Pathogenic (1)	0.000000
303.	c.551_552insT	p.Lys185GlufsX56	frameshift	1		Pathogenic (1)	0.000000
304.	c.2541C>A	p.Y847X	nonsense	1		Pathogenic (1)	0.000000
305.	c.3548T>G	p.F1183C	missense	1		Likely Pathogenic (1)	0.000000
306.	c.966G>A	p.W322X	nonsense	1		Pathogenic (1)	0.000000
307.	c.1505G>T	p.R502L	missense	1		VUS favour pathogenic (1)	0.000000
308.	c.3792_3793del	p.Cys1264*	frameshift	1	Likely Pathogenic (1)		0.000000
309.	c.2517_2538del	p.Val840ThrfsX32	frameshift	1		Pathogenic (1)	0.000000
310.	c.223G>A	p.D75N	missense	1		VUS favour pathogenic (1)	0.000091
311.	c.3364A>T	p.T1122S	missense	1	Likely Pathogenic (1)		0.000000
312.	c.2149_2737del	p.Leu717Alafs*11	frameshift	1	Pathogenic (1)		0.000000
313.	c.3614G>C	p.R1205P	missense	1	Likely Pathogenic (1)		0.000000
314.	c.713G>A	p.R238H	missense	1		VUS (1)	0.000074
315.	c.3617delG		frameshift	1	Pathogenic (1)		0.000000
316.	c.2953A>G	p.K985E	missense	1	Pathogenic (1)		0.000000
317.	c.2560A>G	p.M854V	missense	1		VUS (1)	0.000000
318.	c.2995-1G>A		essential splice site	1	Pathogenic (1)		0.000000
319.	c.3297dup	p.Tyr1100Valfs*49	frameshift	1	Pathogenic (1)		0.000000
320.	c.2381C>A	p.P794Q	missense	1	VUS (1)		0.000000
321.	c.1800delA		frameshift	1		Pathogenic (1)	0.000000
322.	c.1523_1525delinsT	p.Gln508Leufs*22	frameshift	1	Pathogenic (1)		0.000000
323.	c.2603-1G>C		essential splice site	1	Pathogenic (1)		0.000000
324.	c.1072G>A	p.D358N	missense	1	VUS (1)		0.000008
325.	c.3746G>T	p.G1249V	missense	1		VUS (1)	0.000000
326.	c.2054_2067+11del	p.Lys685Argfs*3	frameshift	1	Pathogenic (1)		0.000000
327.	c.2905+1G>C		essential splice site	1		Pathogenic (1)	0.000000
328.	c.2748G>A	p.W916X	nonsense	1	Pathogenic (1)		0.000000
329.	c.1433C>T	p.S478L	missense	1	Likely Pathogenic (1)		0.000017
330.	c.3098G>A	p.R1033Q	missense	1		VUS (1)	0.000000
331.	c.1223+2T>C		essential splice site	1	Pathogenic (1)		0.000000
332.	c.2113_2114insA	p.Thr705AsnfsX3	frameshift	1		Pathogenic (1)	0.000000
333.	c.506-1G>A		essential splice site	1	Pathogenic (1)		0.000000
334.	c.1404del	p.Gln469Serfs*19	frameshift	1	Pathogenic (1)		0.000000
335.	c.1351+2T>C		essential splice site	1		Pathogenic (1)	0.000000
336.	c.811_817delTTCCGCC		frameshift	1	Pathogenic (1)		0.000000
337.	c.1021_1028del	p.Gly341*	frameshift	1	Pathogenic (1)		0.000000
338.	c.1731G>C	p.W577C	missense	1	VUS (1)		0.000000
339.	c.3068_3069insA	p.Asn1023LysfsX28	frameshift	1		Pathogenic (1)	0.000000
340.	c.2875_2876delAC	p.Thr959GlyfsX91	frameshift	1		Pathogenic (1)	0.000000
341.	c.121dup	p.Arg41Profs*8	frameshift	1	Pathogenic (1)		0.000000
342.	c.3690_3691delCA	p.Phe1230LeufsX11	frameshift	1		Pathogenic (1)	0.000000
343.	c.1090+2T>C		essential splice site	1	Pathogenic (1)		0.000000
344.	c.2437A>T	p.K813X	nonsense	1		Pathogenic (1)	0.000000
345.	c.49C>T	p.R17W	missense	1	VUS (1)		0.000023
346.	c.351_352del	p.Gly118Argfs*8	frameshift	1	Pathogenic (1)		0.000000
347.	c.655-2del		essential splice site	1	Pathogenic (1)		0.000000
348.	c.3476_3477delTT		frameshift	1		Pathogenic (1)	0.000000
349.	c.290C>T	p.A97V	missense	1		VUS favour pathogenic (1)	0.000000
350.	c.3797G>A	p.C1266Y	missense	1		Likely Pathogenic (1)	0.000000
351.	c.2780_2781delCA		frameshift	1		Pathogenic (1)	0.000000
352.	c.993_994insT	p.E332X	nonsense	1		Pathogenic (1)	0.000000
353.	c.2528_2536delAGATGCGCG	p.Glu843_Arg845del	inframe	1		Pathogenic (1)	0.000000
354.	c.2234A>G	p.D745G	missense	1		VUS (1)	0.000000
355.	c.326C>T	p.A109V	missense	1		VUS (1)	0.000000
356.	c.2040_2041insT	p.Val681CysfsX12	frameshift	1		Pathogenic (1)	0.000000
357.	c.3580G>A	p.A1194T	missense	1		VUS (1)	0.000008
358.	c.1188G>T	p.W396C	missense	1		VUS (1)	0.000000
359.	c.3335G>A	p.W1112X	nonsense	1		Pathogenic (1)	0.000000
360.	c.*26+2T>C		essential splice site	1	Likely Pathogenic (1)		0.000000
361.	c.436A>C	p.T146P	missense	1		VUS (1)	0.000000
362.	c.481C>A	p.P161T	missense	1		VUS favour pathogenic (1)	0.000041
363.	c.506-1G>T		essential splice site	1		Pathogenic (1)	0.000000
364.	c.3043dup	p.Ala1015Glyfs*36	frameshift	1	Pathogenic (1)		0.000000
365.	c.3019T>C	p.W1007R	missense	1	VUS (1)		0.000000
366.	c.931T>A	p.S311T	missense	1		VUS (1)	0.000000
367.	c.3330+1G>C		essential splice site	1	Pathogenic (1)		0.000000
368.	c.1540A>G	p.I514V	missense	1		VUS (1)	0.000008
369.	c.3572C>T	p.S1191L	missense	1	VUS (1)		0.000016
370.	c.3739G>A	p.D1247N	missense	1	VUS (1)		0.000000
371.	c.3656T>C	p.L1219P	missense	1	VUS (1)		0.000000
372.	c.1358C>T	p.P453L	missense	1		VUS (1)	0.000008
373.	c.2188del	p.Thr730Profs*24	frameshift	1	Pathogenic (1)		0.000000
374.	c.2807dup	p.Ala938Glyfs*113	frameshift	1	Pathogenic (1)		0.000000
375.	c.1624+1G>A		essential splice site	1	Pathogenic (1)		0.000000
376.	c.3049G>A	p.E1017K	missense	1		VUS favour benign (1)	0.000085
377.	c.2909G>A	p.R970Q	missense	1	Likely Pathogenic (1)		0.000032
378.	c.2429_2503delins23	p.Arg810Profs*10	frameshift	1	Pathogenic (1)		0.000000
379.	c.2938C>T	p.R980C	missense	1		VUS (1)	0.000062
380.	c.3206C>A	p.P1069H	missense	1	Likely Pathogenic (1)		0.000000
381.	c.2030C>T	p.P677L	missense	1	VUS (1)		0.000000
382.	c.2170C>T	p.R724W	missense	1		VUS (1)	0.000019
383.	c.3257G>A	p.W1086X	nonsense	1	Pathogenic (1)		0.000021
384.	c.2690_2696del	p.Gly897Glufs*25	frameshift	1	Pathogenic (1)		0.000000
385.	c.1455A>T	p.K485N	missense	1	VUS (1)		0.000000
386.	c.3G>C	p.Met1?	missense	1		Likely Pathogenic (1)	0.000000
387.	c.982delG		frameshift	1	Pathogenic (1)		0.000000
388.	c.2557G>A	p.G853S	missense	1		VUS (1)	0.000008
389.	c.1797del	p.His599Glnfs*3	frameshift	1	Pathogenic (1)		0.000000
390.	c.1291G>A	p.D431N	missense	1	VUS (1)		0.000028
391.	c.1231A>G	p.I411V	missense	1	VUS (1)		0.000000
392.	c.2247C>A	p.Y749X	nonsense	1	Pathogenic (1)		0.000000
393.	c.631G>A	p.D211N	missense	1	VUS (1)		0.000009
394.	c.1294G>A	p.A432T	missense	1		VUS (1)	0.000037

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.