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Gene: PMPCA & Disease: SCAR2, 63 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
221552	PMPCA	c.1129G>A	p.Ala377Thr (p.A377T)	NM_015160.3 M	SNV	P	5 +	3
	PMPCA	c.736G>A	p.Ala246Thr (p.A246T)	NM_001282944.2	SNV	P	5 +	3
	PMPCA	c.829G>A	p.Ala277Thr (p.A277T)	NM_001282946.2	SNV	P	5 +	3
1220620	PMPCA	c.90C>T	p.Tyr30= (p.Y30=)	NM_015160.3 M	SNV	B	1 +	2
1033742	PMPCA	c.897+6G>A	--	NM_015160.3 M	SNV	VUS	1 +	2
1598832	PMPCA	c.633+17G>A	--	NM_015160.3 M	SNV	LB	1 +	2
1220620	PMPCA	c.-209C>T	--	NM_001282944.2	SNV	B	1 +	2
1220620	PMPCA	c.-209C>T	--	NM_001282946.2	SNV	B	1 +	2
1033742	PMPCA	c.597+6G>A	--	NM_001282946.2	SNV	VUS	1 +	2
1033742	PMPCA	c.504+6G>A	--	NM_001282944.2	SNV	VUS	1 +	2
1598832	PMPCA	c.333+17G>A	--	NM_001282946.2	SNV	LB	1 +	2
1598832	PMPCA	c.240+17G>A	--	NM_001282944.2	SNV	LB	1 +	2
1033740	PMPCA	c.1205G>C	p.Arg402Pro (p.R402P)	NM_015160.3 M	SNV	VUS	1 +	1
1033741	PMPCA	c.258G>C	p.Gln86His (p.Q86H)	NM_015160.3 M	SNV	VUS	1 +	1
2435094	PMPCA	c.1099G>A	p.Val367Met (p.V367M)	NM_015160.3 M	SNV	VUS	1 +	1
2435095	PMPCA	c.71+3G>A	--	NM_015160.3 M	SNV	VUS	1 +	1
1295437	PMPCA	c.1200+33G>A	--	NM_015160.3 M	SNV	B	1 +	1
1256053	PMPCA	c.1408+1G>A	--	NM_015160.3 M	SNV	P	1 +	1
1256054	PMPCA	c.634-266T>G	--	NM_015160.3 M	SNV	VUS	1 +	1
1027948	PMPCA	c.803G>A	p.Arg268Gln (p.R268Q)	NM_015160.3 M	SNV	VUS	1 +	1

共63个结果, 每页展示20条

Comparison