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Gene: EXOSC8 & Disease: PCH1C, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
802960	EXOSC8	c.321G>A	p.Gln107= (p.Q107=)	NM_181503.3 M	SNV	B	1 +	2
235309	EXOSC8	c.55-10_55-9del	--	NM_181503.3 M	MS	LB	1 +	2
1027899	EXOSC8	c.13T>C	p.Phe5Leu (p.F5L)	NM_181503.3 M	SNV	LB	1 +	2
2185125	EXOSC8	c.540_544del	p.Asn180fs (p.N180fs)	NM_181503.3 M	Del	VUS	1 +	2
2441309	EXOSC8	c.241C>T	p.Pro81Ser (p.P81S)	NM_181503.3 M	SNV	VUS	1 +	1
548522	EXOSC8	c.781G>T	p.Glu261Ter (p.E261X)	NM_181503.3 M	SNV	VUS	1 +	1
870726	EXOSC8	c.89_91del	p.Gly30Del (p.G30del)	NM_181503.3 M	Del	LP	1 +	1
870727	EXOSC8	c.734dup	p.Ala246fs (p.A246fs)	NM_181503.3 M	Dup	LP	1 +	1
813914	EXOSC8	c.17+1G>T	--	NM_181503.3 M	SNV	VUS	1 +	1
813915	EXOSC8	c.695T>C	p.Leu232Pro (p.L232P)	NM_181503.3 M	SNV	VUS	1 +	1
157608	EXOSC8	c.815G>C	p.Ser272Thr (p.S272T)	NM_181503.3 M	SNV	P	1 +	1
157609	EXOSC8	c.5C>T	p.Ala2Val (p.A2V)	NM_181503.3 M	SNV	P	1 +	1

12 Results, 20 per Page

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