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Gene: PEX7 & Disease: RCP, 44 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
7782	PEX7	c.649G>A	p.Gly217Arg (p.G217R)	NM_000288.4 M	SNV	P	3 +	11
7785	PEX7	c.903+1G>C	--	NM_000288.4 M	SNV	P	4 +	10
7785	PEX7	c.789+1G>C	--	NM_001410945.1	SNV	P	4 +	10
7783	PEX7	c.694C>T	p.Arg232Ter (p.R232X)	NM_000288.4 M	SNV	P	3 +	8
7781	PEX7	c.653C>T	p.Ala218Val (p.A218V)	NM_000288.4 M	SNV	P	4 +	7
7786	PEX7	c.345T>G	p.Tyr115Ter (p.Y115X)	NM_000288.4 M	SNV	P	3 +	7
370629	PEX7	c.13_19dup	p.Gly7fs (p.G7fs)	NM_000288.4 M	MS	P	3 +	5
7788	PEX7	c.120C>G	p.Tyr40Ter (p.Y40X)	NM_000288.4 M	SNV	P	4 +	4
554785	PEX7	c.429delT	--	NM_000288.4 M	Del	P	3 +	3
554785	PEX7	c.429del	p.Val144fs (p.V144fs)	NM_000288.4 M	Del	P	3 +	3
370682	PEX7	c.277C>T	p.Gln93Ter (p.Q93X)	NM_000288.4 M	SNV	P	5 +	3
1039835	PEX7	c.418-3T>C	--	NM_000288.4 M	SNV	LB	2 +	2
498141	PEX7	c.86C>T	p.Pro29Leu (p.P29L)	NM_000288.4 M	SNV	VUS	4 +	1
1021985	PEX7	c.970T>C	p.Ter324Arg (p.X324R)	NM_000288.4 M	SNV	VUS	2 +	0
1013882	PEX7	c.115C>A	p.His39Asn (p.H39N)	NM_000288.4 M	SNV	VUS	2 +	0
1116547	PEX7	c.681C>T	p.Asp227= (p.D227=)	NM_000288.4 M	SNV	LB	2 +	0
1024459	PEX7	c.331G>A	p.Ala111Thr (p.A111T)	NM_000288.4 M	SNV	LB	2 +	0
1010243	PEX7	c.129G>C	p.Ala43= (p.A43=)	NM_000288.4 M	SNV	LB	4 +	0
828090	PEX7	c.130+48_130+53dup	--	NM_000288.4 M	Dup	B	3 +	0
828091	PEX7	c.693A>G	p.Val231= (p.V231=)	NM_000288.4 M	SNV	VUS	1 +	0

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