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Mutation Direct

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Gene: MYO9A & Disease: CMS24, 23 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
590980	MYO9A	c.4550G>A	p.Arg1517His (p.R1517H)	NM_006901.4 M	SNV	P	1 +	2
590979	MYO9A	c.608A>G	p.Tyr203Cys (p.Y203C)	NM_006901.4 M	SNV	P	1 +	1
1289337	MYO9A	c.1253+24A>G	--	NM_006901.4 M	SNV	B	1 +	1
1031100	MYO9A	c.1573G>A	p.Glu525Lys (p.E525K)	NM_006901.4 M	SNV	VUS	1 +	1
2506585	MYO9A	c.2062A>G	p.Ile688Val (p.I688V)	NM_006901.4 M	SNV	VUS	1 +	1
1676435	MYO9A	c.3001-2A>G	--	NM_006901.4 M	SNV	LP	1 +	1
1031101	MYO9A	c.3071T>C	p.Ile1024Thr (p.I1024T)	NM_006901.4 M	SNV	VUS	1 +	1
2433980	MYO9A	c.3406C>G	p.Gln1136Glu (p.Q1136E)	NM_006901.4 M	SNV	VUS	1 +	1
1225670	MYO9A	c.3578G>A	p.Gly1193Glu (p.G1193E)	NM_006901.4 M	SNV	B	1 +	1
1223022	MYO9A	c.3771A>G	p.Arg1257= (p.R1257=)	NM_006901.4 M	SNV	B	1 +	1
1031102	MYO9A	c.5110C>T	p.Pro1704Ser (p.P1704S)	NM_006901.4 M	SNV	VUS	2 +	1
590982	MYO9A	c.5093A>G	p.Asp1698Gly (p.D1698G)	NM_006901.4 M	SNV	P	1 +	1
1031103	MYO9A	c.5350C>T	p.Pro1784Ser (p.P1784S)	NM_006901.4 M	SNV	VUS	1 +	1
1031104	MYO9A	c.5807C>T	p.Thr1936Met (p.T1936M)	NM_006901.4 M	SNV	VUS	1 +	1
2580246	MYO9A	c.6419A>G	p.Asp2140Gly (p.D2140G)	NM_006901.4 M	SNV	VUS	1 +	1
871413	MYO9A	c.6476-3dup	--	NM_006901.4 M	Dup	VUS	1 +	1
871413	MYO9A	c.6476-7dup	--	NM_006901.4 M	Dup	VUS	1 +	1
590978	MYO9A	c.6845G>A	p.Gly2282Glu (p.G2282E)	NM_006901.4 M	SNV	P	1 +	1
791639	MYO9A	c.6848G>A	p.Arg2283His (p.R2283H)	NM_006901.4 M	SNV	P	1 +	1
2580247	MYO9A	c.7224G>C	p.Lys2408Asn (p.K2408N)	NM_006901.4 M	SNV	VUS	1 +	1

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