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Gene: MYH3 & Disease: CPSFS1B, 35 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
587706	MYH3	c.-9+1G>A	--	NM_002470.4 M	SNV	P	3 +	8
129649	MYH3	c.2151C>A	p.Gly717= (p.G717=)	NM_002470.4 M	SNV	B	5 +	3
129652	MYH3	c.2916A>G	p.Thr972= (p.T972=)	NM_002470.4 M	SNV	B	5 +	3
129653	MYH3	c.2952T>C	p.Ser984= (p.S984=)	NM_002470.4 M	SNV	B	5 +	3
129656	MYH3	c.3138A>C	p.Arg1046= (p.R1046=)	NM_002470.4 M	SNV	B	5 +	3
129658	MYH3	c.3574G>A	p.Ala1192Thr (p.A1192T)	NM_002470.4 M	SNV	B	5 +	3
129663	MYH3	c.4731C>T	p.Ile1577= (p.I1577=)	NM_002470.4 M	SNV	B	5 +	3
503890	MYH3	c.1986_1990del	p.Asn662fs (p.N662fs)	NM_002470.4 M	Del	P	3 +	2
321752	MYH3	c.1960-8del	--	NM_002470.4 M	Del	LB	5 +	2
258670	MYH3	c.1575C>T	p.Ile525= (p.I525=)	NM_002470.4 M	SNV	LB	5 +	2
258671	MYH3	c.1581+13A>C	--	NM_002470.4 M	SNV	B	5 +	2
258673	MYH3	c.2166-15A>G	--	NM_002470.4 M	SNV	B	5 +	2
258676	MYH3	c.2926-12A>G	--	NM_002470.4 M	SNV	B	5 +	2
258680	MYH3	c.3409C>T	p.Arg1137Cys (p.R1137C)	NM_002470.4 M	SNV	LB	5 +	2
258691	MYH3	c.4957-16G>C	--	NM_002470.4 M	SNV	B	4 +	2
258698	MYH3	c.5457+9dup	--	NM_002470.4 M	Dup	LB	5 +	2
1708265	MYH3	c.4111C>T	p.Gln1371Ter (p.Q1371X)	NM_002470.4 M	SNV	P	2 +	2
161596	MYH3	c.118G>A	p.Val40Met (p.V40M)	NM_002470.4 M	SNV	VUS	5 +	2
1675303	MYH3	c.5457G>C	p.Arg1819Ser (p.R1819S)	NM_002470.4 M	SNV	VUS	1 +	1
258667	MYH3	c.1003-22C>T	--	NM_002470.4 M	SNV	B	4 +	1

35 Results, 20 per Page

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