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Gene: WDR19 & Disease: CED1, 18 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
558759	WDR19	c.1623C>G	p.Tyr541Ter (p.Y541X)	NM_025132.4 M	SNV	P	7 +	6
558759	WDR19	c.1143C>G	p.Tyr381Ter (p.Y381X)	NM_001317924.2	SNV	P	7 +	6
127158	WDR19	c.3533G>A	p.Arg1178Gln (p.R1178Q)	NM_025132.4 M	SNV	P	7 +	5
127158	WDR19	c.3053G>A	p.Arg1018Gln (p.R1018Q)	NM_001317924.2	SNV	P	7 +	5
266105	WDR19	c.1434C>G	p.Ile478Met (p.I478M)	NM_025132.4 M	SNV	P	3 +	1
266105	WDR19	c.954C>G	p.Ile318Met (p.I318M)	NM_001317924.2	SNV	P	3 +	1
348730	WDR19	c.1134+13T>G	--	NM_025132.4 M	SNV	LB	6 +	0
348732	WDR19	c.1248T>C	p.Asn416= (p.N416=)	NM_025132.4 M	SNV	VUS	9 +	0
348733	WDR19	c.1249+9A>G	--	NM_025132.4 M	SNV	B	7 +	0
348750	WDR19	c.3362A>G	p.Asn1121Ser (p.N1121S)	NM_025132.4 M	SNV	VUS	7 +	0
348763	WDR19	c.293_296dup	--	NM_025132.4 M	Dup	VUS	4 +	0
195621	WDR19	c.2364-15_2364-14del	--	NM_025132.4 M	Del	B	6 +	0
348730	WDR19	c.654+13T>G	--	NM_001317924.2	SNV	LB	6 +	0
348732	WDR19	c.768T>C	p.Asn256= (p.N256=)	NM_001317924.2	SNV	VUS	9 +	0
348733	WDR19	c.769+9A>G	--	NM_001317924.2	SNV	B	7 +	0
348750	WDR19	c.2882A>G	p.Asn961Ser (p.N961S)	NM_001317924.2	SNV	VUS	7 +	0
348763	WDR19	c.293_296dup	--	NM_001317924.2	Dup	VUS	4 +	0
195621	WDR19	c.1884-15_1884-14del	--	NM_001317924.2	Del	B	6 +	0

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