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Gene: MYO5B & Disease: PFIC10, 20 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1510451	MYO5B	c.2470C>T	p.Arg824Cys (p.R824C)	NM_001080467.3 M	SNV	P	3 +	3
1686961	MYO5B	c.1860dup	p.Met621fs (p.M621fs)	NM_001080467.3 M	Dup	P	1 +	3
1436086	MYO5B	c.1325T>C	p.Phe442Ser (p.F442S)	NM_001080467.3 M	SNV	VUS	3 +	2
1485987	MYO5B	c.1201C>T	p.Arg401Cys (p.R401C)	NM_001080467.3 M	SNV	P	1 +	2
1626596	MYO5B	c.4764C>T	p.Thr1588= (p.T1588=)	NM_001080467.3 M	SNV	LB	3 +	2
1349914	MYO5B	c.3738G>C	p.Gln1246His (p.Q1246H)	NM_001080467.3 M	SNV	VUS	3 +	2
1038856	MYO5B	c.2995C>T	p.Arg999Cys (p.R999C)	NM_001080467.3 M	SNV	VUS	1 +	2
711603	MYO5B	c.4481C>T	p.Ser1494Leu (p.S1494L)	NM_001080467.3 M	SNV	LB	3 +	2
327027	MYO5B	c.3432G>A	p.Thr1144= (p.T1144=)	NM_001080467.3 M	SNV	LB	3 +	2
327052	MYO5B	c.2076T>C	p.Ala692= (p.A692=)	NM_001080467.3 M	SNV	LB	3 +	2
1686942	MYO5B	c.274C>T	p.Arg92Cys (p.R92C)	NM_001080467.3 M	SNV	P	1 +	2
1686957	MYO5B	c.3538-1G>A	--	NM_001080467.3 M	SNV	P	1 +	2
327092	MYO5B	c.28T>G	p.Cys10Gly (p.C10G)	NM_001080467.3 M	SNV	LB	3 +	2
786341	MYO5B	c.1793C>T	p.Pro598Leu (p.P598L)	NM_001080467.3 M	SNV	B	3 +	2
1686944	MYO5B	c.2414+5G>T	--	NM_001080467.3 M	SNV	P	1 +	1
1705511	MYO5B	c.999G>T	p.Leu333Phe (p.L333F)	NM_001080467.3 M	SNV	VUS	1 +	1
1686943	MYO5B	c.2395C>T	p.Arg799Trp (p.R799W)	NM_001080467.3 M	SNV	P	1 +	1
1686945	MYO5B	c.356A>G	p.Tyr119Cys (p.Y119C)	NM_001080467.3 M	SNV	P	1 +	1
1686959	MYO5B	c.1021C>T	p.Gln341Ter (p.Q341X)	NM_001080467.3 M	SNV	P	1 +	1
1686960	MYO5B	c.1463T>C	p.Ile488Thr (p.I488T)	NM_001080467.3 M	SNV	P	1 +	1

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