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Gene: SUFU & Disease: BCNS1, 1689 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
3573	SUFU	c.71del	p.Pro24fs (p.P24fs)	NM_016169.4 M	Del	P	3 +	9
3573	SUFU	c.71del	p.Pro24fs (p.P24fs)	NM_001178133.2	Del	P	3 +	9
135282	SUFU	c.1018G>T	p.Ala340Ser (p.A340S)	NM_016169.4 M	SNV	LB	4 +	6
135282	SUFU	c.1018G>T	p.Ala340Ser (p.A340S)	NM_001178133.2	SNV	LB	4 +	6
3574	SUFU	c.71dupC	--	NM_016169.4 M	Dup	P	2 +	5
	SUFU	c.71dup	p.Ala25fs (p.A25fs)	NM_016169.4 M	Dup	P	2 +	5
	SUFU	c.71dup	p.Ala25fs (p.A25fs)	NM_001178133.2	Dup	P	2 +	5
1478847	SUFU	c.183-2A>C	--	NM_016169.4 M	SNV	LP	2 +	4
406388	SUFU	c.436C>T	p.Arg146Ter (p.R146X)	NM_016169.4 M	SNV	P	2 +	4
1455211	SUFU	c.37_53dup	p.Gly19fs (p.G19fs)	NM_016169.4 M	Dup	P	2 +	4
571265	SUFU	c.454+1G>A	--	NM_016169.4 M	SNV	P	2 +	4
2136929	SUFU	c.642G>A	p.Trp214Ter (p.W214X)	NM_016169.4 M	SNV	P	2 +	4
1072595	SUFU	c.37_53del	p.Thr13fs (p.T13fs)	NM_016169.4 M	Del	P	2 +	4
1457629	SUFU	c.1077del	p.Glu359fs (p.E359fs)	NM_016169.4 M	Del	P	2 +	4
524654	SUFU	c.183-1G>A	--	NM_016169.4 M	SNV	LP	2 +	4
822842	SUFU	c.895C>T	p.Arg299Ter (p.R299X)	NM_016169.4 M	SNV	P	2 +	4
1478847	SUFU	c.183-2A>C	--	NM_001178133.2	SNV	LP	2 +	4
406388	SUFU	c.436C>T	p.Arg146Ter (p.R146X)	NM_001178133.2	SNV	P	2 +	4
1455211	SUFU	c.37_53dup	p.Gly19fs (p.G19fs)	NM_001178133.2	Dup	P	2 +	4
571265	SUFU	c.454+1G>A	--	NM_001178133.2	SNV	P	2 +	4

1689 Results, 20 per Page

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