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Mutation Direct

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Gene: HSPB3 & Disease: HMND4, 43 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
5429	HSPB3	c.21G>T	p.Arg7Ser (p.R7S)	NM_006308.3 M	SNV	P	2 +	2
846157	HSPB3	c.346C>T	p.Arg116Ter (p.R116X)	NM_006308.3 M	SNV	VUS	2 +	1
721798	HSPB3	c.144C>A	p.Thr48= (p.T48=)	NM_006308.3 M	SNV	LB	2 +	0
648201	HSPB3	c.98dup	p.Leu34fs (p.L34fs)	NM_006308.3 M	Dup	VUS	2 +	0
2413461	HSPB3	c.177G>A	p.Ala59= (p.A59=)	NM_006308.3 M	SNV	LB	2 +	0
906391	HSPB3	c.-67C>T	--	NM_006308.3 M	SNV	VUS	2 +	0
906392	HSPB3	c.-17C>A	--	NM_006308.3 M	SNV	LB	2 +	0
906393	HSPB3	c.67C>T	p.Arg23Ter (p.R23X)	NM_006308.3 M	SNV	VUS	2 +	0
955679	HSPB3	c.246del	p.Glu83fs (p.E83fs)	NM_006308.3 M	Del	VUS	2 +	0
1359519	HSPB3	c.37C>T	p.Pro13Ser (p.P13S)	NM_006308.3 M	SNV	VUS	2 +	0
811167	HSPB3	c.316G>A	p.Glu106Lys (p.E106K)	NM_006308.3 M	SNV	VUS	2 +	0
1665830	HSPB3	c.420G>A	p.Val140= (p.V140=)	NM_006308.3 M	SNV	LB	2 +	0
862897	HSPB3	c.437C>T	p.Pro146Leu (p.P146L)	NM_006308.3 M	SNV	VUS	2 +	0
2414387	HSPB3	c.300C>T	p.His100= (p.H100=)	NM_006308.3 M	SNV	LB	2 +	0
904057	HSPB3	c.*10G>A	--	NM_006308.3 M	SNV	VUS	2 +	0
904058	HSPB3	c.*11G>T	--	NM_006308.3 M	SNV	VUS	2 +	0
1019333	HSPB3	c.2T>C	p.Met1Thr (p.M1T)	NM_006308.3 M	SNV	VUS	2 +	0
1113671	HSPB3	c.90G>T	p.Leu30= (p.L30=)	NM_006308.3 M	SNV	LB	2 +	0
2037449	HSPB3	c.25C>T	p.Leu9Phe (p.L9F)	NM_006308.3 M	SNV	VUS	2 +	0
2046924	HSPB3	c.261T>C	p.Ile87= (p.I87=)	NM_006308.3 M	SNV	LB	2 +	0

43 Results, 20 per Page

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