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Gene: PEX6 & Disease: PBD4B, 180 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
198709	PEX6	c.1802G>A	p.Arg601Gln (p.R601Q)	NM_000287.4 M	SNV	P	6 +	17
198709	PEX6	c.1538G>A	p.Arg513Gln (p.R513Q)	NM_001316313.2	SNV	P	6 +	17
224321	PEX6	c.1314_1321delGGAGGCCT	--	NM_000287.4 M	Del	P	6 +	8
224321	PEX6	c.1314_1321del	p.Glu439fs (p.E439fs)	NM_000287.4 M	Del	P	6 +	8
556244	PEX6	c.2362G>A	p.Val788Met (p.V788M)	NM_000287.4 M	SNV	P	4 +	8
224321	PEX6	c.1050_1057del	p.Glu351fs (p.E351fs)	NM_001316313.2	Del	P	6 +	8
556244	PEX6	c.2098G>A	p.Val700Met (p.V700M)	NM_001316313.2	SNV	P	4 +	8
550358	PEX6	c.1962-1G>A	--	NM_000287.4 M	SNV	P	4 +	7
550358	PEX6	c.1698-1G>A	--	NM_001316313.2	SNV	P	4 +	7
217424	PEX6	c.821C>T	p.Pro274Leu (p.P274L)	NM_000287.4 M	SNV	P	6 +	6
217424	PEX6	c.618+203C>T	--	NM_001316313.2	SNV	P	6 +	6
557701	PEX6	c.517del	p.Ser173fs (p.S173fs)	NM_000287.4 M	Del	P	5 +	5
495796	PEX6	c.1947del	p.Ile650fs (p.I650fs)	NM_000287.4 M	Del	P	5 +	5
555443	PEX6	c.802_815del	p.Asp268fs (p.D268fs)	NM_000287.4 M	Del	P	4 +	5
557701	PEX6	c.517del	p.Ser173fs (p.S173fs)	NM_001316313.2	Del	P	5 +	5
495796	PEX6	c.1683del	p.Ile562fs (p.I562fs)	NM_001316313.2	Del	P	5 +	5
555443	PEX6	c.618+184_618+197del	--	NM_001316313.2	Del	P	4 +	5
557825	PEX6	c.1234-1G>T	--	NM_000287.4 M	SNV	LP	4 +	4
557926	PEX6	c.1479+2del	--	NM_000287.4 M	Del	LP	3 +	4
551023	PEX6	c.510dup	p.Gly171fs (p.G171fs)	NM_000287.4 M	Dup	P	4 +	4

180 Results, 20 per Page

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