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Gene: CBL & Disease: Noonan Syndrome and Noonan-Related Syndrome, 62 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
180817	CBL	c.1298C>T	p.Pro433Leu (p.P433L)	NM_005188.4 M	SNV	VUS	2 +	12
133813	CBL	c.2710G>A	p.Val904Ile (p.V904I)	NM_005188.4 M	SNV	LB	4 +	11
302788	CBL	c.2569C>T	p.Leu857Phe (p.L857F)	NM_005188.4 M	SNV	LB	3 +	11
45201	CBL	c.1485G>A	p.Pro495= (p.P495=)	NM_005188.4 M	SNV	B	4 +	10
45202	CBL	c.1641T>C	p.Pro547= (p.P547=)	NM_005188.4 M	SNV	LB	4 +	10
45203	CBL	c.1858C>T	p.Leu620Phe (p.L620F)	NM_005188.4 M	SNV	LB	4 +	10
45208	CBL	c.2592C>T	p.Leu864= (p.L864=)	NM_005188.4 M	SNV	B	4 +	10
45209	CBL	c.513T>C	p.Ser171= (p.S171=)	NM_005188.4 M	SNV	B	4 +	10
136663	CBL	c.1287C>T	p.Ile429= (p.I429=)	NM_005188.4 M	SNV	LB	3 +	10
136665	CBL	c.2190G>C	p.Thr730= (p.T730=)	NM_005188.4 M	SNV	LB	4 +	10
40400	CBL	c.107ACC[8]	p.His42Dup (p.H42dup)	NM_005188.4 M	MS	LB	4 +	10
40400	CBL	c.125_127dup	--	NM_005188.4 M	MS	LB	4 +	10
40412	CBL	c.1459A>G	p.Met487Val (p.M487V)	NM_005188.4 M	SNV	LB	3 +	10
40419	CBL	c.2269G>A	p.Ala757Thr (p.A757T)	NM_005188.4 M	SNV	LB	4 +	10
40424	CBL	c.2484G>A	p.Pro828= (p.P828=)	NM_005188.4 M	SNV	B	4 +	10
45198	CBL	c.1227+4C>T	--	NM_005188.4 M	SNV	LB	4 +	7
240121	CBL	c.2036+9G>T	--	NM_005188.4 M	SNV	LB	2 +	4
45211	CBL	c.869+4A>G	--	NM_005188.4 M	SNV	B	4 +	4
1053208	CBL	c.1100A>G	p.Gln367Arg (p.Q367R)	NM_005188.4 M	SNV	LP	2 +	3
13807	CBL	c.1100A>C	p.Gln367Pro (p.Q367P)	NM_005188.4 M	SNV	P	3 +	3

62 Results, 20 per Page

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