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Gene: HSPG2 & Disease: DDSH, 1041 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
265454	HSPG2	c.7006+1G>A	--	NM_005529.7 M	SNV	P	2 +	5
265454	HSPG2	c.7009+1G>A	--	NM_001291860.2	SNV	P	2 +	5
295909	HSPG2	c.744T>C	p.Leu248= (p.L248=)	NM_005529.7 M	SNV	B	2 +	3
446053	HSPG2	c.10702G>A	p.Val3568Ile (p.V3568I)	NM_005529.7 M	SNV	LB	3 +	3
295909	HSPG2	c.744T>C	p.Leu248= (p.L248=)	NM_001291860.2	SNV	B	2 +	3
446053	HSPG2	c.10705G>A	p.Val3569Ile (p.V3569I)	NM_001291860.2	SNV	LB	3 +	3
197080	HSPG2	c.4916C>T	p.Thr1639Met (p.T1639M)	NM_005529.7 M	SNV	LB	2 +	2
197081	HSPG2	c.4928C>A	p.Pro1643His (p.P1643H)	NM_005529.7 M	SNV	LB	1 +	2
295734	HSPG2	c.10589G>A	p.Arg3530Gln (p.R3530Q)	NM_005529.7 M	SNV	VUS	3 +	2
295889	HSPG2	c.1654+15G>A	--	NM_005529.7 M	SNV	LP	2 +	2
209161	HSPG2	c.2357A>G	p.Asn786Ser (p.N786S)	NM_005529.7 M	SNV	LB	3 +	2
930661	HSPG2	c.3656+4C>T	--	NM_005529.7 M	SNV	VUS	1 +	2
284530	HSPG2	c.4877G>A	p.Arg1626His (p.R1626H)	NM_005529.7 M	SNV	LB	2 +	2
194641	HSPG2	c.2074G>A	p.Val692Met (p.V692M)	NM_005529.7 M	SNV	LB	3 +	2
736738	HSPG2	c.8330G>A	p.Arg2777Gln (p.R2777Q)	NM_005529.7 M	SNV	LB	3 +	2
197080	HSPG2	c.4919C>T	p.Thr1640Met (p.T1640M)	NM_001291860.2	SNV	LB	2 +	2
197081	HSPG2	c.4931C>A	p.Pro1644His (p.P1644H)	NM_001291860.2	SNV	LB	1 +	2
295734	HSPG2	c.10592G>A	p.Arg3531Gln (p.R3531Q)	NM_001291860.2	SNV	VUS	3 +	2
295889	HSPG2	c.1657+15G>A	--	NM_001291860.2	SNV	LP	2 +	2
209161	HSPG2	c.2360A>G	p.Asn787Ser (p.N787S)	NM_001291860.2	SNV	LB	3 +	2

1041 Results, 20 per Page

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