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Mutation Direct

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Gene: PMPCB & Disease: MMDS6, 21 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
523138	PMPCB	c.523C>T	p.Arg175Cys (p.R175C)	NM_004279.3 M	SNV	P	1 +	1
523139	PMPCB	c.601G>C	p.Ala201Pro (p.A201P)	NM_004279.3 M	SNV	P	1 +	1
523141	PMPCB	c.530T>G	p.Val177Gly (p.V177G)	NM_004279.3 M	SNV	P	1 +	1
523142	PMPCB	c.1265T>C	p.Ile422Thr (p.I422T)	NM_004279.3 M	SNV	P	1 +	1
523140	PMPCB	c.524G>A	p.Arg175His (p.R175H)	NM_004279.3 M	SNV	P	1 +	1
1325591	PMPCB	c.661A>G	p.Ile221Val (p.I221V)	NM_004279.3 M	SNV	VUS	1 +	0
1030756	PMPCB	c.1087T>C	p.Trp363Arg (p.W363R)	NM_004279.3 M	SNV	VUS	1 +	0
1030757	PMPCB	c.150A>C	p.Gln50His (p.Q50H)	NM_004279.3 M	SNV	VUS	1 +	0
1030758	PMPCB	c.28T>G	p.Leu10Val (p.L10V)	NM_004279.3 M	SNV	LB	1 +	0
1030759	PMPCB	c.470T>G	p.Leu157Arg (p.L157R)	NM_004279.3 M	SNV	VUS	1 +	0
2075245	PMPCB	c.355C>A	p.Leu119Met (p.L119M)	NM_004279.3 M	SNV	VUS	1 +	0
1601646	PMPCB	c.935G>A	p.Cys312Tyr (p.C312Y)	NM_004279.3 M	SNV	LB	1 +	0
1299086	PMPCB	c.1336A>G	p.Asn446Asp (p.N446D)	NM_004279.3 M	SNV	LB	1 +	0
1031399	PMPCB	c.-3G>T	--	NM_004279.3 M	SNV	LB	1 +	0
1341818	PMPCB	c.32C>A	p.Ser11Ter (p.S11X)	NM_004279.3 M	SNV	LP	1 +	0
1342345	PMPCB	c.1462C>T	p.Arg488Cys (p.R488C)	NM_004279.3 M	SNV	LB	1 +	0
1342344	PMPCB	c.606T>A	p.Tyr202Ter (p.Y202X)	NM_004279.3 M	SNV	LP	1 +	0
1806211	PMPCB	c.122G>A	p.Arg41Lys (p.R41K)	NM_004279.3 M	SNV	VUS	1 +	0
1234421	PMPCB	c.737-3T>C	--	NM_004279.3 M	SNV	B	1 +	0
2585259	PMPCB	c.1078dup	p.Thr360fs (p.T360fs)	NM_004279.3 M	Dup	LP	1 +	0

21 Results, 20 per Page

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