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Gene: FLNC & Disease: CMD1B, 34 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1710097	FLNC	c.6907C>T	p.Gln2303Ter (p.Q2303X)	NM_001458.5 M	SNV	P	5 +	2
1710103	FLNC	c.3943C>T	p.Gln1315Ter (p.Q1315X)	NM_001458.5 M	SNV	P	2 +	2
1710097	FLNC	c.6808C>T	p.Gln2270Ter (p.Q2270X)	NM_001127487.2	SNV	P	5 +	2
1710103	FLNC	c.3943C>T	p.Gln1315Ter (p.Q1315X)	NM_001127487.2	SNV	P	2 +	2
620373	FLNC	c.4021C>T	p.Arg1341Ter (p.R1341X)	NM_001458.5 M	SNV	P	5 +	1
1074155	FLNC	c.7750_7769dup	p.Lys2591fs (p.K2591fs)	NM_001458.5 M	Dup	P	5 +	1
620373	FLNC	c.4021C>T	p.Arg1341Ter (p.R1341X)	NM_001127487.2	SNV	P	5 +	1
1074155	FLNC	c.7651_7670dup	p.Lys2558fs (p.K2558fs)	NM_001127487.2	Dup	P	5 +	1
684824	FLNC	c.7385-1G>A	--	NM_001458.5 M	SNV	LP	2 +	0
1710093	FLNC	c.404G>A	p.Trp135Ter (p.W135X)	NM_001458.5 M	SNV	P	2 +	0
1710094	FLNC	c.5142C>A	p.Tyr1714Ter (p.Y1714X)	NM_001458.5 M	SNV	P	2 +	0
1710095	FLNC	c.5503C>T	p.Gln1835Ter (p.Q1835X)	NM_001458.5 M	SNV	P	2 +	0
1710096	FLNC	c.6742C>T	p.Gln2248Ter (p.Q2248X)	NM_001458.5 M	SNV	LP	2 +	0
1710098	FLNC	c.7316_7317del	p.Val2439fs (p.V2439fs)	NM_001458.5 M	Del	P	2 +	0
1710099	FLNC	c.7581del	p.Ile2527fs (p.I2527fs)	NM_001458.5 M	Del	LP	5 +	0
1710102	FLNC	c.3908dup	p.Tyr1303Ter (p.Y1303X)	NM_001458.5 M	Dup	P	2 +	0
1710104	FLNC	c.4346C>G	p.Ser1449Ter (p.S1449X)	NM_001458.5 M	SNV	LP	2 +	0
1710105	FLNC	c.4581-2A>G	--	NM_001458.5 M	SNV	LP	2 +	0
1710106	FLNC	c.4584dup	p.Phe1529fs (p.F1529fs)	NM_001458.5 M	Dup	LP	2 +	0
1710101	FLNC	c.2405del	p.Gly802fs (p.G802fs)	NM_001458.5 M	Del	P	2 +	0

34 Results, 20 per Page

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