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Gene: TSC1 & Disease: TSC1, 26042 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Variant type	Clinical Significance	Disease count	Publications
41692	TSC1	c.1960C>G	p.Gln654Glu (p.Q654E)	NM_000368.5 M	SNV	LB	2 +	24
	TSC1	c.1957C>G	p.Gln653Glu (p.Q653E)	NM_001162426.2	SNV	LB	2 +	24
	TSC1	c.1807C>G	p.Gln603Glu (p.Q603E)	NM_001162427.2	SNV	LB	2 +	24
	TSC1	c.1597C>G	p.Gln533Glu (p.Q533E)	NM_001362177.2	SNV	LB	2 +	24
48796	TSC1	c.1525C>T	p.Arg509Ter (p.R509X)	NM_000368.5 M	SNV	P	6 +	18
	TSC1	c.1522C>T	p.Arg508Ter (p.R508X)	NM_001162426.2	SNV	P	6 +	18
	TSC1	c.1372C>T	p.Arg458Ter (p.R458X)	NM_001162427.2	SNV	P	6 +	18
	TSC1	c.1162C>T	p.Arg388Ter (p.R388X)	NM_001362177.2	SNV	P	6 +	18
5103	TSC1	c.2194C>T	p.His732Tyr (p.H732Y)	NM_000368.5 M	SNV	LB	4 +	17
	TSC1	c.2191C>T	p.His731Tyr (p.H731Y)	NM_001162426.2	SNV	LB	4 +	17
	TSC1	c.2041C>T	p.His681Tyr (p.H681Y)	NM_001162427.2	SNV	LB	4 +	17
	TSC1	c.1831C>T	p.His611Tyr (p.H611Y)	NM_001362177.2	SNV	LB	4 +	17
48885	TSC1	c.2074C>T	p.Arg692Ter (p.R692X)	NM_000368.5 M	SNV	P	6 +	16
	TSC1	c.2071C>T	p.Arg691Ter (p.R691X)	NM_001162426.2	SNV	P	6 +	16
	TSC1	c.1921C>T	p.Arg641Ter (p.R641X)	NM_001162427.2	SNV	P	6 +	16
	TSC1	c.1711C>T	p.Arg571Ter (p.R571X)	NM_001362177.2	SNV	P	6 +	16
49083	TSC1	c.682C>T	p.Arg228Ter (p.R228X)	NM_000368.5 M	SNV	P	5 +	14
	TSC1	c.682C>T	p.Arg228Ter (p.R228X)	NM_001162426.2	SNV	P	5 +	14
	TSC1	c.529C>T	p.Arg177Ter (p.R177X)	NM_001162427.2	SNV	P	5 +	14
	TSC1	c.319C>T	p.Arg107Ter (p.R107X)	NM_001362177.2	SNV	P	5 +	14

26042 Results, 20 per Page

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