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Gene: IL18BP & Disease: FVH, 14 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
717003	IL18BP	c.67G>A	p.Val23Ile (p.V23I)	NM_001039660.2 M	SNV	LB	1 +	2
	IL18BP	c.67G>A	p.Val23Ile (p.V23I)	NM_005699.3	SNV	LB	1 +	2
	IL18BP	c.67G>A	p.Val23Ile (p.V23I)	NM_001039659.2	SNV	LB	1 +	2
	IL18BP	c.67G>A	p.Val23Ile (p.V23I)	NM_001145055.1	SNV	LB	1 +	2
	IL18BP	c.67G>A	p.Val23Ile (p.V23I)	NM_001145057.1	SNV	LB	1 +	2
	IL18BP	c.67G>A	p.Val23Ile (p.V23I)	NM_173042.2	SNV	LB	1 +	2
	IL18BP	c.67G>A	p.Val23Ile (p.V23I)	NM_173044.3	SNV	LB	1 +	2
689420	IL18BP	c.508-19_528del	--	NM_001039660.2 M	Del	VUS	1 +	1
	IL18BP	c.508-19_528del	--	NM_173042.2	Del	VUS	1 +	1
	IL18BP	c.120_159del	--	NM_005699.3	Del	VUS	1 +	1
	IL18BP	c.508-19_528del	--	NM_001039659.2	Del	VUS	1 +	1
	IL18BP	c.380-19_400del	--	NM_173044.3	Del	VUS	1 +	1
	IL18BP	c.508-19_528del	--	NM_001145057.1	Del	VUS	1 +	1
	IL18BP	c.236-19_256del	--	NM_001145055.1	Del	VUS	1 +	1

14 Results, 20 per Page

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