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Gene: CCNF & Disease: FTDALS5, 14 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1805877	CCNF	c.481G>A	p.Gly161Arg (p.G161R)	NM_001761.3 M	SNV	VUS	1 +	3
1805877	CCNF	c.-444G>A	--	NM_001323538.2	SNV	VUS	1 +	3
992594	CCNF	c.1870G>A	p.Glu624Lys (p.E624K)	NM_001761.3 M	SNV	P	1 +	1
992591	CCNF	c.1861A>G	p.Ser621Gly (p.S621G)	NM_001761.3 M	SNV	P	1 +	1
992593	CCNF	c.1175G>C	p.Arg392Thr (p.R392T)	NM_001761.3 M	SNV	P	1 +	1
992592	CCNF	c.585T>G	p.Ser195Arg (p.S195R)	NM_001761.3 M	SNV	P	1 +	1
2441693	CCNF	c.205C>T	p.His69Tyr (p.H69Y)	NM_001761.3 M	SNV	VUS	1 +	1
2585153	CCNF	c.62G>A	p.Arg21Gln (p.R21Q)	NM_001761.3 M	SNV	VUS	1 +	1
992594	CCNF	c.946G>A	p.Glu316Lys (p.E316K)	NM_001323538.2	SNV	P	1 +	1
992591	CCNF	c.937A>G	p.Ser313Gly (p.S313G)	NM_001323538.2	SNV	P	1 +	1
992593	CCNF	c.251G>C	p.Arg84Thr (p.R84T)	NM_001323538.2	SNV	P	1 +	1
992592	CCNF	c.-340T>G	--	NM_001323538.2	SNV	P	1 +	1
2441693	CCNF	c.-647+1710C>T	--	NM_001323538.2	SNV	VUS	1 +	1
2585153	CCNF	c.-756G>A	--	NM_001323538.2	SNV	VUS	1 +	1

14 Results, 20 per Page

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