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Mutation Direct

Effortless mutation search and display tool

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Gene: HSPB8 & Disease: HMND2, 35 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2618	HSPB8	c.421A>G	p.Lys141Glu (p.K141E)	NM_014365.3 M	SNV	P	3 +	5
307418	HSPB8	c.535G>C	p.Glu179Gln (p.E179Q)	NM_014365.3 M	SNV	B	3 +	3
260402	HSPB8	c.402T>C	p.Ile134= (p.I134=)	NM_014365.3 M	SNV	B	3 +	3
260403	HSPB8	c.582C>T	p.Thr194= (p.T194=)	NM_014365.3 M	SNV	B	3 +	3
2617	HSPB8	c.423G>C	p.Lys141Asn (p.K141N)	NM_014365.3 M	SNV	P	2 +	2
307417	HSPB8	c.266C>G	p.Pro89Arg (p.P89R)	NM_014365.3 M	SNV	LB	3 +	2
307419	HSPB8	c.552C>T	p.Asn184= (p.N184=)	NM_014365.3 M	SNV	B	3 +	2
450945	HSPB8	c.499G>A	p.Glu167Lys (p.E167K)	NM_014365.3 M	SNV	LB	3 +	2
380971	HSPB8	c.233G>T	p.Arg78Met (p.R78M)	NM_014365.3 M	SNV	LB	3 +	1
464510	HSPB8	c.432-10T>A	--	NM_014365.3 M	SNV	LB	3 +	1
567484	HSPB8	c.14A>G	p.Gln5Arg (p.Q5R)	NM_014365.3 M	SNV	LB	3 +	1
977157	HSPB8	c.562del	p.Gln188fs (p.Q188fs)	NM_014365.3 M	Del	LP	2 +	1
1027861	HSPB8	c.403G>C	p.Val135Leu (p.V135L)	NM_014365.3 M	SNV	VUS	2 +	1
560410	HSPB8	c.269C>T	p.Pro90Leu (p.P90L)	NM_014365.3 M	SNV	VUS	2 +	1
560411	HSPB8	c.413A>C	p.Asn138Thr (p.N138T)	NM_014365.3 M	SNV	LP	2 +	1
883245	HSPB8	c.*860T>C	--	NM_014365.3 M	SNV	VUS	3 +	0
307413	HSPB8	c.-201G>T	--	NM_014365.3 M	SNV	VUS	3 +	0
307415	HSPB8	c.-172G>C	--	NM_014365.3 M	SNV	VUS	3 +	0
307416	HSPB8	c.48G>A	p.Leu16= (p.L16=)	NM_014365.3 M	SNV	LB	3 +	0
307420	HSPB8	c.*67T>G	--	NM_014365.3 M	SNV	VUS	3 +	0

35 Results, 20 per Page

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