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